[ { "uniprot_canonical_ac": "Q9Y2G2-5", "uniprot_id": "CARD8_HUMAN", "mass": 60652.0, "length": 537, "protein_name": "Caspase recruitment domain-containing protein 8", "gene_name": "CARD8", "organism": "Human", "refseq_name": "caspase recruitment domain-containing protein 8 isoform d", "refseq_ac": "NP_001171833", "gene_names_uniprotkb": "CARD8; DACAR; KIAA0955; NDPP1", "gene_names_refseq": "CARD8; CARDINAL; DACAR; DAKAR; NDPP1; NDPP; TUCAN", "protein_names_uniprotkb": "Caspase recruitment domain-containing protein 8; 3.4.-.-; CARD-inhibitor of NF-kappa-B-activating ligand; CARDINAL; TUCAN; Tumor up-regulated CARD-containing antagonist of CASP9", "protein_names_refseq": "CARD inhibitor of NF-kappaB-activating ligands; apoptotic protein NDPP1; caspase recruitment domain-containing protein 8 isoform d; tumor up-regulated CARD-containing antagonist of CASP9; tumor up-regulated CARD-containing antagonist of caspase nine", "tax_id": 9606, "disease": "inflammatory bowel disease 30 (Disease Ontology:DOID:0112154)", "pathway": " (hsa:22900); (R-HSA-111458); (R-HSA-9627069)", "pathway_count": 3, "publication_count": 72, "publication_id_list": "10949025;11408476;11551959;11734640;11821383;11956601;12067710;12620238;12660240;12941691;15030775;15271982;17030188;18083711;18212821;19319132;22087307;23481700;23506543;23521171;23695559;24367089;24517500;25313070;25576301;25645385;26462578;27600516;27697150;28192157;28228285;28832583;29242379;29408806;29967349;30315122;31154438;31525884;31848261;32051255;32157095;32558991;32796818;32840892;32897882;32938616;32983136;33053349;33154409;33420028;33420033;33542150;33691108;33731929;33968037;33981976;34019797;34509645;34932366;35051231;35165443;35561310;35580925;36241641;36284347;36357533;37712526;37938771;38350853;38920661;9267021;9390557", "class_list": "", "function": "Association between C10X polymorphism in the CARD8 gene and inflammatory markers in young healthy individuals in the LBA study. Publication Status: Online-Only, [RefSeq, PubMed]; CARD-8 protein, a new CARD family member that regulates caspase-1 activation and apoptosis. (card-8 protein), [RefSeq, PubMed]; CARD8: A Novel Inflammasome Sensor with Well-Known Anti-Inflammatory and Anti-Apoptotic Activity. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Constitutes the active part of the CARD8 inflammasome (PubMed:32840892, PubMed:34019797). In absence of pathogens and other damage-associated signals, interacts with the N-terminal part of CARD8 (Caspase recruitment domain-containing protein 8, N-terminus), preventing activation of the CARD8 inflammasome (PubMed:33542150). In response to pathogen-associated signals, the N-terminal part of CARD8 is degraded by the proteasome, releasing this form, which polymerizes to form the CARD8 inflammasome complex: the CARD8 inflammasome complex then directly recruits pro-caspase-1 (proCASP1) and promotes caspase-1 (CASP1) activation, leading to gasdermin-D (GSDMD) cleavage and subsequent pyroptosis (PubMed:32840892, PubMed:33542150)., [UniProtKB, PubMed, PubMed, PubMed]; Constitutes the precursor of the CARD8 inflammasome, which mediates autoproteolytic processing within the FIIND domain to generate the N-terminal and C-terminal parts, which are associated non-covalently in absence of pathogens and other damage-associated signals., [UniProtKB, PubMed]; Expression and characterization of NDPP1, [RefSeq, PubMed]; Inflammasome sensor, which mediates inflammasome activation in response to various pathogen-associated signals, leading to subsequent pyroptosis of CD4(+) T-cells and macrophages (PubMed:11408476, PubMed:11821383, PubMed:15030775, PubMed:32051255, PubMed:32840892, PubMed:33542150, PubMed:34019797, PubMed:36357533). Inflammasomes are supramolecular complexes that assemble in the cytosol in response to pathogens and other damage-associated signals and play critical roles in innate immunity and inflammation (PubMed:11408476, PubMed:11821383, PubMed:15030775, PubMed:36357533). Acts as a recognition receptor (PRR): recognizes specific pathogens and other damage-associated signals, such as HIV-1 protease activity or Val-boroPro inhibitor, and mediates CARD8 inflammasome activation (PubMed:32840892, PubMed:33542150, PubMed:36357533). In response to pathogen-associated signals, the N-terminal part of CARD8 is degraded by the proteasome, releasing the cleaved C-terminal part of the protein (Caspase recruitment domain-containing protein 8, C-terminus), which polymerizes to initiate the formation of the inflammasome complex: the CARD8 inflammasome directly recruits pro-caspase-1 (proCASP1) independently of PYCARD/ASC and promotes caspase-1 (CASP1) activation, which subsequently cleaves and activates inflammatory cytokines IL1B and IL18 and gasdermin-D (GSDMD), leading to pyroptosis (PubMed:32051255, PubMed:32840892, PubMed:33053349, PubMed:33542150, PubMed:36357533). Ability to sense HIV-1 protease activity leads to the clearance of latent HIV-1 in patient CD4(+) T-cells after viral reactivation; in contrast, HIV-1 can evade CARD8-sensing when its protease remains inactive in infected cells prior to viral budding (PubMed:33542150). Also acts as a negative regulator of the NLRP3 inflammasome (PubMed:24517500). May also act as an inhibitor of NF-kappa-B activation (PubMed:11551959, PubMed:12067710)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Regulatory part that prevents formation of the CARD8 inflammasome: in absence of pathogens and other damage-associated signals, interacts with the C-terminal part of CARD8 (Caspase recruitment domain-containing protein 8, C-terminus), preventing activation of the CARD8 inflammasome (PubMed:33542150). In response to pathogen-associated signals, this part is ubiquitinated by the N-end rule pathway and degraded by the proteasome, releasing the cleaved C-terminal part of the protein, which polymerizes and forms the CARD8 inflammasome (Probable) (PubMed:32558991)., [UniProtKB, PubMed, PubMed, PubMed]; TUCAN/CARDINAL and DRAL participate in a common pathway for modulation of NF-kappaB activation., [RefSeq, PubMed]; The protein encoded by this gene belongs to the caspase recruitment domain (CARD)-containing family of proteins, which are involved in pathways leading to activation of caspases or nuclear factor kappa-B (NFKB). This protein may be a component of the inflammasome, a protein complex that plays a role in the activation of proinflammatory caspases. It is thought that this protein acts as an adaptor molecule that negatively regulates NFKB activation, CASP1-dependent IL1B secretion, and apoptosis. Polymorphisms in this gene may be associated with a susceptibility to rheumatoid arthritis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010]., [RefSeq]; The role of NLRP3 and CARD8 polymorphisms in the risk of rheumatoid arthritis: A meta-analysis of genetic association studies. 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": 36, "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": "B5KVR6;B5KVR8;B7Z496;B7Z4A2;E5RFV9;E9PEM7;G3XAM9;Q6PGP8;Q96P82", "ec_number_list": "3.4.22.62;4.2.1.109;3.4.-.-", "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0008233 peptidase activity;GO:0050700 CARD domain binding;GO:0038187 pattern recognition receptor activity;GO:0032089 NACHT domain binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0072559 NLRP3 inflammasome complex", "go_biological_process": "GO:0006954 inflammatory response;GO:0051607 defense response to virus;GO:0032691 negative regulation of interleukin-1 beta production;GO:0043124 negative regulation of canonical NF-kappaB signal transduction;GO:0050729 positive regulation of inflammatory response", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q9Y2G2-5", "record_type": "protein" }, { "uniprot_canonical_ac": "B2RD01-1", "uniprot_id": "CENP1_HUMAN", "mass": 21052.0, "length": 187, "protein_name": "Putative CENPB DNA-binding domain-containing protein 1", "gene_name": "CENPBD1P", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "CENPBD1P; CENPBD1", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative CENPB DNA-binding domain-containing protein 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 13, "publication_id_list": "23481700;25576301;27846572;27893789;28446606;28832583;29242379;29393594;29632046;32265295;33592498;36010968;37359417", "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:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "B2RD01-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92903-1", "uniprot_id": "CDS1_HUMAN", "mass": 53304.0, "length": 461, "protein_name": "Phosphatidate cytidylyltransferase 1", "gene_name": "CDS1", "organism": "Human", "refseq_name": "phosphatidate cytidylyltransferase 1", "refseq_ac": "NP_001254", "gene_names_uniprotkb": "CDS1; CDS", "gene_names_refseq": "CDS 1; CDS1", "protein_names_uniprotkb": "Phosphatidate cytidylyltransferase 1; 2.7.7.41; CDP-DAG synthase 1; CDP-DG synthase 1; CDP-diacylglycerol synthase 1; CDP-diglyceride pyrophosphorylase 1; CDP-diglyceride synthase 1; CDS 1; CTP:phosphatidate cytidylyltransferase 1", "protein_names_refseq": "CDP-DAG synthase 1; CDP-DG synthase 1; CDP-DG synthetase 1; CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1; CDP-diglyceride pyrophosphorylase 1; CDP-diglyceride synthase 1; CDP-diglyceride synthetase 1; CTP:phosphatidate cytidylyltransferase 1; cytidine diphosphate diacylglycerol synthase 1; phosphatidate cytidylyltransferase 1", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:1040); (R-HSA-1483226)", "pathway_count": 2, "publication_count": 48, "publication_id_list": "10022914;11025670;11096068;11237011;11390408;16959974;17377520;19531498;24715725;25375833;25576301;25645385;25887399;26028218;26946540;28228285;28446606;29242379;29493099;29557506;29632711;30315122;30779550;31092671;31154438;31548309;32157095;32161166;32387766;32897882;32938616;32983136;33537174;33691108;33912179;34087483;34932366;35051231;35318648;35561310;35580925;36240223;36241641;3718705;8863531;9115637;9407135;9806839", "class_list": "", "function": "Breakdown products of phosphoinositides are ubiquitous second messengers that function downstream of many G protein-coupled receptors and tyrosine kinases regulating cell growth, calcium metabolism, and protein kinase C activity. This gene encodes an enzyme which regulates the amount of phosphatidylinositol available for signaling by catalyzing the conversion of phosphatidic acid to CDP-diacylglycerol. This enzyme is an integral membrane protein localized to two subcellular domains, the matrix side of the inner mitochondrial membrane where it is thought to be involved in the synthesis of phosphatidylglycerol and cardiolipin and the cytoplasmic side of the endoplasmic reticulum where it functions in phosphatidylinositol biosynthesis. Two genes encoding this enzyme have been identified in humans, one mapping to human chromosome 4q21 and a second to 20p13. [provided by RefSeq, Jul 2008]., [RefSeq]; Catalyzes the conversion of phosphatidic acid (PA) to CDP-diacylglycerol (CDP-DAG), an essential intermediate in the synthesis of phosphatidylglycerol, cardiolipin and phosphatidylinositol (PubMed:25375833, PubMed:9407135). Exhibits almost no acyl chain preference for PA, showing no discrimination for the sn-1/sn-2 acyl chain composition of PAs (PubMed:25375833). Plays an important role in regulating the growth of lipid droplets which are storage organelles at the center of lipid and energy homeostasis (PubMed:26946540, PubMed:31548309). Positively regulates the differentiation and development of adipocytes (By similarity)., [UniProtKB, 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": 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": 11, "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": "B2RAL5;O00163", "ec_number_list": "2.7.7.41", "go_molecular_function": "GO:0004142 diacylglycerol cholinephosphotransferase activity;GO:0004605 phosphatidate cytidylyltransferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0045600 positive regulation of fat cell differentiation;GO:0006661 phosphatidylinositol biosynthetic process;GO:0007602 phototransduction;GO:0140042 lipid droplet formation", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q92903-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96T59-1", "uniprot_id": "CDRTF_HUMAN", "mass": 20651.0, "length": 188, "protein_name": "CMT1A duplicated region transcript 15 protein", "gene_name": "CDRT15", "organism": "Human", "refseq_name": "CMT1A duplicated region transcript 15 protein isoform 1", "refseq_ac": "NP_001007531", "gene_names_uniprotkb": "CDRT15", "gene_names_refseq": "CDRT15", "protein_names_uniprotkb": "CMT1A duplicated region transcript 15 protein", "protein_names_refseq": "CMT1A duplicated region transcript 15 protein isoform 1; CMT1A duplicated region transcript 15 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:146822)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;11381029;31844290;37543771", "class_list": "", "function": "Bioinformatic analysis the expression and clinical significance of CDRT15 in cholangiocarcinoma using TCGA database., [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": "B2RUU5", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q96T59-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IWA6-1", "uniprot_id": "CCD60_HUMAN", "mass": 63091.0, "length": 550, "protein_name": "Coiled-coil domain-containing protein 60", "gene_name": "CCDC60", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 60", "refseq_ac": "NP_848594", "gene_names_uniprotkb": "CCDC60", "gene_names_refseq": "CCDC60", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 60", "protein_names_refseq": "coiled-coil domain-containing protein 60", "tax_id": 9606, "disease": "", "pathway": " (hsa:160777)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;24715725;30379171;32938616;35051231;35251023;37541260", "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": 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": 0, "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": 3, "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": 1.3, "record_id": "Q8IWA6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6UW01-1", "uniprot_id": "CBLN3_HUMAN", "mass": 21521.0, "length": 205, "protein_name": "Cerebellin-3", "gene_name": "CBLN3", "organism": "Human", "refseq_name": "cerebellin-3 precursor", "refseq_ac": "NP_001034860", "gene_names_uniprotkb": "CBLN3; PRO1486", "gene_names_refseq": "CBLN3; PRO1486", "protein_names_uniprotkb": "Cerebellin-3", "protein_names_refseq": "cerebellin-3 precursor; cerebellin-3", "tax_id": 9606, "disease": "", "pathway": " (hsa:643866)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;12975309;15340161", "class_list": "", "function": "May be involved in synaptic functions in the CNS., [UniProtKB]; Members of the precerebellin family, such as CBLN3, contain a cerebellin motif (see CBLN1; MIM 600432) and a C-terminal C1q signature domain (see MIM 120550) that mediates trimeric assembly of atypical collagen complexes. However, precerebellins do not contain a collagen motif, suggesting that they are not conventional components of the extracellular matrix (Pang et al., 2000 [PubMed 10964938]).[supplied by OMIM, Aug 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": 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_cellular_component": "GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0045202 synapse;GO:0043083 synaptic cleft", "go_biological_process": "GO:0099558 maintenance of synapse structure;GO:0099550 trans-synaptic signaling, modulating synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q6UW01-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5SZD1-1", "uniprot_id": "CF141_HUMAN", "mass": 26754.0, "length": 244, "protein_name": "Uncharacterized protein C6orf141", "gene_name": "C6orf141", "organism": "Human", "refseq_name": "uncharacterized protein C6orf141", "refseq_ac": "NP_001139124", "gene_names_uniprotkb": "C6orf141", "gene_names_refseq": "C6orf141", "protein_names_uniprotkb": "Uncharacterized protein C6orf141", "protein_names_refseq": "uncharacterized protein C6orf141", "tax_id": 9606, "disease": "", "pathway": " (hsa:135398)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;30872783", "class_list": "", "function": "Low C6orf141 Expression is Significantly Associated with a Poor Prognosis in Patients with Oral 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "A8K1H4;Q8N400;Q96NQ1", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q5SZD1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P23435-1", "uniprot_id": "CBLN1_HUMAN", "mass": 21097.0, "length": 193, "protein_name": "Cerebellin-1", "gene_name": "CBLN1", "organism": "Human", "refseq_name": "cerebellin-1 precursor", "refseq_ac": "NP_004343", "gene_names_uniprotkb": "CBLN1", "gene_names_refseq": "CBLN1", "protein_names_uniprotkb": "Cerebellin-1; Precerebellin", "protein_names_refseq": "cerebellin-1 precursor; cerebellin-1; precerebellin", "tax_id": 9606, "disease": "", "pathway": " (hsa:869)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;1704129;24190977;27418511;2760624;28228285;29557506;29671580;30315122;30459171;31154438;31630583;31844290;33091337;33141586;34562210", "class_list": "", "function": "Family-Based Cohort Association Study of PRKCB1, CBLN1 and KCNMB4 Gene Polymorphisms and Autism in Polish Population., [RefSeq, PubMed]; Required for synapse integrity and synaptic plasticity. During cerebellar synapse formation, essential for the matching and maintenance of pre- and post-synaptic elements at parallel fiber-Purkinje cell synapses, the establishment of the proper pattern of climbing fiber-Purkinje cell innervation, and induction of long-term depression at parallel fiber-Purkinje cell synapses. Plays a role as a synaptic organizer that acts bidirectionally on both pre- and post-synaptic components. On the one hand induces accumulation of synaptic vesicles in the pre-synaptic part by binding with NRXN1 and in other hand induces clustering of GRID2 and its associated proteins at the post-synaptic site through association of GRID2. NRXN1-CBLN1-GRID2 complex directly induces parallel fiber protrusions that encapsulate spines of Purkinje cells leading to accumulation of GRID2 and synaptic vesicles. Required for CBLN3 export from the endoplasmic reticulum and secretion (By similarity). NRXN1-CBLN1-GRID2 complex mediates the D-Serine-dependent long term depression signals and AMPA receptor endocytosis (PubMed:27418511). Essential for long-term maintenance but not establishment of excitatory synapses (By similarity). Inhibits the formation and function of inhibitory GABAergic synapses in cerebellar Purkinje cells (By similarity)., [UniProtKB, PubMed, UniProtKB]; Serum amphiregulin and cerebellin-1 levels in severe preeclampsia., [RefSeq, PubMed]; The cerebellin peptide exerts neuromodulatory functions. Directly stimulates norepinephrine release via the adenylate cyclase/PKA-dependent signaling pathway; and indirectly enhances adrenocortical secretion in vivo, through a paracrine mechanism involving medullary catecholamine release (By similarity)., [UniProtKB, UniProtKB]; This gene encodes a cerebellum-specific precursor protein, precerebellin, with similarity to the globular (non-collagen-like) domain of complement component C1qB. Precerebellin is processed to give rise to several derivatives, including the hexadecapeptide, cerebellin, which is highly enriched in postsynaptic structures of Purkinje cells. Cerebellin has also been found in human and rat adrenals, where it has been shown to enhance the secretory activity of this gland. [provided by RefSeq, Aug 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": 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": 0, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2RAN9;P02682;Q52M09", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0045202 synapse", "go_biological_process": "GO:0007399 nervous system development;GO:0050808 synapse organization;GO:0007268 chemical synaptic transmission;GO:0099558 maintenance of synapse structure;GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "P23435-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IZ16-1", "uniprot_id": "SACDR_HUMAN", "mass": 23862.0, "length": 206, "protein_name": "Sperm acrosome developmental regulator", "gene_name": "SPACDR", "organism": "Human", "refseq_name": "sperm acrosome developmental regulator", "refseq_ac": "NP_001004323", "gene_names_uniprotkb": "SPACDR; C7orf61", "gene_names_refseq": "C7orf61; SPACDR", "protein_names_uniprotkb": "Sperm acrosome developmental regulator", "protein_names_refseq": "sperm acrosome developmental regulator; uncharacterized protein C7orf61", "tax_id": 9606, "disease": "", "pathway": " (hsa:402573)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;23481700;23634713;24715725;26154972;29242379;30379171;31154438;31429579;31844290;31985809;33141586;33298915;35051231", "class_list": "", "function": "May play a role in acrosome formation and nucleus shaping during spermiogenesis., [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_cellular_component": "GO:0005634 nucleus;GO:0001669 acrosomal vesicle", "go_biological_process": "GO:0007286 spermatid development", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q8IZ16-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P13500-1", "uniprot_id": "CCL2_HUMAN", "mass": 11025.0, "length": 99, "protein_name": "C-C motif chemokine 2", "gene_name": "CCL2", "organism": "Human", "refseq_name": "C-C motif chemokine 2 precursor", "refseq_ac": "NP_002973", "gene_names_uniprotkb": "CCL2; MCP1; SCYA2", "gene_names_refseq": "CCL2; GDCF-2; HC11; HSMCR30; MCAF; MCP-1; MCP1; SCYA2; SMC-CF", "protein_names_uniprotkb": "C-C motif chemokine 2; HC11; MCAF; MCP-1; Monocyte chemoattractant protein 1; Monocyte chemotactic and activating factor; Monocyte chemotactic protein 1; Monocyte secretory protein JE; Small-inducible cytokine A2", "protein_names_refseq": "C-C motif chemokine 2 precursor; C-C motif chemokine 2; chemokine (C-C motif) ligand 2; monocyte chemoattractant protein-1; monocyte chemotactic and activating factor; monocyte secretory protein JE; small inducible cytokine A2 (monocyte chemotactic protein 1, homologous to mouse Sig-je); small inducible cytokine subfamily A (Cys-Cys), member 2; small-inducible cytokine A2", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); obstructive sleep apnea (Disease Ontology:DOID:0050848); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); stroke (Disease Ontology:DOID:0051061); colitis (Disease Ontology:DOID:0060180); lupus nephritis (Disease Ontology:DOID:0080162); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); COVID-19 (Disease Ontology:DOID:0080600); acute necrotizing pancreatitis (Disease Ontology:DOID:0080998); Graves ophthalmopathy (Disease Ontology:DOID:0081120); portal hypertension (Disease Ontology:DOID:10762); hypertension (Disease Ontology:DOID:10763); age related macular degeneration (Disease Ontology:DOID:10871); Kuhnt-Junius degeneration (Disease Ontology:DOID:10873); intracranial aneurysm (Disease Ontology:DOID:10941); nephritis (Disease Ontology:DOID:10952); IgA vasculitis (Disease Ontology:DOID:11123); sarcoma (Disease Ontology:DOID:1115); pneumocystosis (Disease Ontology:DOID:11339); pulmonary edema (Disease Ontology:DOID:11396); sciatic neuropathy (Disease Ontology:DOID:11446); familial hyperlipidemia (Disease Ontology:DOID:1168); diabetic angiopathy (Disease Ontology:DOID:11713); gestational diabetes (Disease Ontology:DOID:11714); Chagas disease (Disease Ontology:DOID:12140); alcoholic hepatitis (Disease Ontology:DOID:12351); hemolytic-uremic syndrome (Disease Ontology:DOID:12554); Guillain-Barre syndrome (Disease Ontology:DOID:12842); autistic disorder (Disease Ontology:DOID:12849); cardiovascular system disease (Disease Ontology:DOID:1287); endomyocardial fibrosis (Disease Ontology:DOID:12932); intracranial vasospasm (Disease Ontology:DOID:13100); crescentic glomerulonephritis (Disease Ontology:DOID:13139); uveitis (Disease Ontology:DOID:13141); proliferative diabetic retinopathy (Disease Ontology:DOID:13207); Behcet's disease (Disease Ontology:DOID:13241); temporal arteritis (Disease Ontology:DOID:13375); hepatic encephalopathy (Disease Ontology:DOID:13413); obstructive jaundice (Disease Ontology:DOID:13603); anterior uveitis (Disease Ontology:DOID:1407); toxic shock syndrome (Disease Ontology:DOID:14115); aggressive periodontitis (Disease Ontology:DOID:1474); cystic fibrosis (Disease Ontology:DOID:1485); fungal infectious disease (Disease Ontology:DOID:1564); thrombocytopenia (Disease Ontology:DOID:1588); status epilepticus (Disease Ontology:DOID:1824); hyperinsulinism (Disease Ontology:DOID:2018); colon cancer (Disease Ontology:DOID:219); transient cerebral ischemia (Disease Ontology:DOID:224); brain ischemia (Disease Ontology:DOID:2316); multiple sclerosis (Disease Ontology:DOID:2377); orchitis (Disease Ontology:DOID:2518); bronchiolitis obliterans (Disease Ontology:DOID:2799); asthma (Disease Ontology:DOID:2841); endometriosis (Disease Ontology:DOID:289); membranoproliferative glomerulonephritis (Disease Ontology:DOID:2920); severe acute respiratory syndrome (Disease Ontology:DOID:2945); pulmonary tuberculosis (Disease Ontology:DOID:2957); IgA glomerulonephritis (Disease Ontology:DOID:2986); interstitial lung disease (Disease Ontology:DOID:3082); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); ischemia (Disease Ontology:DOID:326); bipolar disorder (Disease Ontology:DOID:3312); coronary artery disease (Disease Ontology:DOID:3393); pulmonary fibrosis (Disease Ontology:DOID:3770); gastritis (Disease Ontology:DOID:4029); systemic scleroderma (Disease Ontology:DOID:418); macular degeneration (Disease Ontology:DOID:4448); macular retinal edema (Disease Ontology:DOID:4449); anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780); pancreatitis (Disease Ontology:DOID:4989); liver cirrhosis (Disease Ontology:DOID:5082); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); retinal detachment (Disease Ontology:DOID:5327); kidney disease (Disease Ontology:DOID:557); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); fibromyalgia (Disease Ontology:DOID:631); pulmonary hypertension (Disease Ontology:DOID:6432); hepatocellular carcinoma (Disease Ontology:DOID:684); rheumatoid arthritis (Disease Ontology:DOID:7148); abdominal aortic aneurysm (Disease Ontology:DOID:7693); end stage renal disease (Disease Ontology:DOID:783); lipodystrophy (Disease Ontology:DOID:811); myocarditis (Disease Ontology:DOID:820); periapical periodontitis (Disease Ontology:DOID:823); periodontitis (Disease Ontology:DOID:824); lung disease (Disease Ontology:DOID:850); skin melanoma (Disease Ontology:DOID:8923); diabetic retinopathy (Disease Ontology:DOID:8947); systemic lupus erythematosus (Disease Ontology:DOID:9074); acute myeloid leukemia (Disease Ontology:DOID:9119); hyperhomocysteinemia (Disease Ontology:DOID:9279); type 2 diabetes mellitus (Disease Ontology:DOID:9352); cholangitis (Disease Ontology:DOID:9446); pulmonary embolism (Disease Ontology:DOID:9477); pulmonary emphysema (Disease Ontology:DOID:9675); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970); Mycobacterium tuberculosis, susceptibility (MONDO:MONDO:0000070)", "pathway": " (hsa:6347); (R-HSA-380108); (R-HSA-380994); (R-HSA-6783783); (R-HSA-6785807); (R-HSA-9818026)", "pathway_count": 6, "publication_count": 234, "publication_id_list": "10023775;10092818;10219247;10229797;10369418;10415057;10433356;10510379;10529171;10586089;10587439;10640743;10706668;10725696;10725697;10781587;10867011;10918580;10958673;11058569;11060282;11084045;11104795;11120780;11237011;11278437;11278729;11356008;11404481;11463377;11960372;12149255;12223527;12242343;12554737;12554859;12600988;12626585;12832402;12884299;1460289;14634100;14712222;14742429;15033992;15067078;15116091;15261459;15385533;15584925;15805299;15869882;15919823;15950906;16007214;16048438;16107333;16107692;16205632;16220540;16236134;16352737;16397018;16451196;16510571;16540365;16606674;1661560;16687408;16912112;16931790;16982608;16989641;17427945;1744577;17458857;17572495;18243101;18285520;18353781;1840701;18447642;1857712;18644974;18840095;1891716;19124156;19185846;19287949;19397496;1940369;1940799;20002784;20022965;20145033;20361218;20493732;2071154;2078213;21102457;21252155;21689689;21730069;21937440;21994466;22046235;2217207;22205702;22383755;22693070;22802018;22819556;22851691;22978410;23086340;23124025;23172665;2322286;23233732;23269699;23455323;23555662;2357211;23765988;23955712;23967200;24097101;2423119;2465924;24743777;2513477;25143907;2518726;25234944;2648385;2663993;2664463;26885690;27044744;27726376;2923622;29242379;29413899;2970963;30568593;3098319;31217245;31986264;32471499;3260265;32983136;33303843;34171305;35071413;39192485;39455952;7510216;7512027;7512451;7516408;7529288;7543512;7593617;7594602;7602097;7622448;7642634;7679328;7684412;7687627;7795521;7796300;7851893;7875320;7898939;7902377;7907877;8048929;8063757;8085155;8102388;8107690;8120391;8163946;8186324;8195247;8301137;8383238;8537680;8602263;8621622;8627182;8639485;8639605;8662928;8663118;8668165;8734788;8742066;8797861;8816495;8849694;8871669;8897595;8898111;8910398;8921438;8946277;8989326;9013879;9013939;9024663;9164944;9166430;9169459;9207005;9276730;9312047;9354687;9390561;9449724;9463416;9550426;9618518;9651359;9723655;9736340;9792674;9794440;9822675;9836587;9837883;9874564;9918218", "class_list": "", "function": "Acts as a ligand for C-C chemokine receptor CCR2 (PubMed:10529171, PubMed:10587439, PubMed:9837883). Signals through binding and activation of CCR2 and induces a strong chemotactic response and mobilization of intracellular calcium ions (PubMed:10587439, PubMed:9837883). Exhibits a chemotactic activity for monocytes and basophils but not neutrophils or eosinophils (PubMed:8195247, PubMed:8627182, PubMed:9792674). May be involved in the recruitment of monocytes into the arterial wall during the disease process of atherosclerosis (PubMed:8107690)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; CCL2/CCR2 signaling in cancer pathogenesis. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Chemokine CCL2 and its receptor CCR2 in different age groups of patients with COVID-19. Publication Status: Online-Only, [RefSeq, PubMed]; Studies indicate manipulating CCL2-CCR2 interaction as a potential approach for combating metastatic disease. Review article, [RefSeq, PubMed]; This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Chemokines are a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of N-terminal cysteine residues of the mature peptide. This chemokine is a member of the CC subfamily which is characterized by two adjacent cysteine residues. This cytokine displays chemotactic activity for monocytes and basophils but not for neutrophils or eosinophils. It has been implicated in the pathogenesis of diseases characterized by monocytic infiltrates, like psoriasis, rheumatoid arthritis and atherosclerosis. It binds to chemokine receptors CCR2 and CCR4. Elevated expression of the encoded protein is associated with severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) infection. [provided by RefSeq, Aug 2020]., [RefSeq]; Virus-Induced Host Chemokine CCL2 in COVID-19 Pathogenesis: Potential Prognostic Marker and Target of Anti-Inflammatory Strategy. 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": 23, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "monitoring; predictive; prognostic", "glycan_count": 0, "disease_count": 101, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R4V3;Q9UDF3", "ec_number_list": "", "go_molecular_function": "GO:0004672 protein kinase activity;GO:0005102 signaling receptor binding;GO:0042056 chemoattractant activity;GO:0008009 chemokine activity;GO:0042379 chemokine receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0016020 membrane", "go_biological_process": "GO:0001525 angiogenesis;GO:0006468 protein phosphorylation;GO:0006935 chemotaxis;GO:0006954 inflammatory response;GO:0007155 cell adhesion", "synthesized_glycan_count": 0, "hit_score": 23.5, "record_id": "P13500-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P00746-1", "uniprot_id": "CFAD_HUMAN", "mass": 27033.0, "length": 253, "protein_name": "Complement factor D", "gene_name": "CFD", "organism": "Human", "refseq_name": "complement factor D isoform 2 precursor", "refseq_ac": "NP_001304264", "gene_names_uniprotkb": "CFD; DF; PFD", "gene_names_refseq": "ADIPSIN; ADN; CFD; DF; PFD", "protein_names_uniprotkb": "Complement factor D; 3.4.21.46; Adipsin; C3 convertase activator; Properdin factor D", "protein_names_refseq": "C3 convertase activator; D component of complement (adipsin); complement factor D isoform 2 precursor; complement factor D preproprotein; properdin factor D", "tax_id": 9606, "disease": "abdominal obesity-metabolic syndrome (Disease Ontology:DOID:0060611); congenital diarrhea 6 (Disease Ontology:DOID:0060780); arthus reaction (Disease Ontology:DOID:1556); obesity (Disease Ontology:DOID:9970); recurrent Neisseria infections due to factor D deficiency (MONDO:MONDO:0013487)", "pathway": " (hsa:1675); (R-HSA-114608); (R-HSA-173736); (R-HSA-6798695)", "pathway_count": 4, "publication_count": 62, "publication_id_list": "10022823;11237011;1374388;1435334;14630798;15297306;16527897;20038603;21205667;22362762;22905912;23640497;23650620;25576301;268620;26992070;27535802;279011;29557506;3052276;31154438;31844290;32161166;32350084;32387766;32938616;32983136;33392160;33981976;34087483;34211107;3421908;34509645;34932366;35051231;35251023;35580925;37744351;38114042;38479005;39209774;497171;6363133;6383466;6457647;6707020;6769474;6776531;6821372;6912277;6987665;7592653;809512;82604;8289289;8467233;8692836;874324;950465;9748277;9753554;978134", "class_list": "", "function": "Adipose tissue-derived adipsin marks human aging in non-type 2 diabetes population. Publication Status: Online-Only, [RefSeq, PubMed]; Adipsin in the pathogenesis of cardiovascular diseases. Review article, [RefSeq, PubMed]; Combinatorial Inhibition of Complement Factor D and BCL2 for Early-Onset Colorectal Cancer., [RefSeq, PubMed]; Complement factor D regulates collagen type I expression and fibroblast migration to enhance human tendon repair and healing outcomes. Publication Status: Online-Only, [RefSeq, PubMed]; Serine protease that initiates the alternative pathway of the complement system, a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive immune system. In contrast to other complement pathways (classical, lectin and GZMK) that are directly activated by pathogens or antigen-antibody complexes, the alternative complement pathway is initiated by the spontaneous hydrolysis of complement C3. The alternative complement pathway acts as an amplification loop that enhances complement activation by mediating the formation of C3 and C5 convertases. Activated CFD cleaves factor B (CFB) when the latter is complexed with complement C3b, activating the C3 convertase of the alternative pathway., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the S1, or chymotrypsin, family of serine peptidases. This protease catalyzes the cleavage of factor B, the rate-limiting step of the alternative pathway of complement activation. This protein also functions as an adipokine, a cell signaling protein secreted by adipocytes, which regulates insulin secretion in mice. Mutations in this gene underlie complement factor D deficiency, which is associated with recurrent bacterial meningitis infections in human patients. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature protease. [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": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DV76;Q5U5S1;Q86VJ5;Q8N4E0;Q8WZB4", "ec_number_list": "1.8.3.2;3.4.19.12;3.6.4.13;2.7.1.35;1.1.1.42;2.3.2.13;2.4.2.1;3.4.21.46;3.4.21.47;1.16.3.1;1.11.1.6;4.1.2.13;2.4.1.1;5.3.1.9;5.1.3.-;3.4.23.5;3.4.22.52;2.4.2.7;3.4.22.1;3.6.4.10;3.2.1.31;2.5.1.18;2.7.10.2;1.13.11.-;1.13.11.34;3.3.2.6;3.4.11.4;1.11.1.7;1.1.1.205;4.2.99.18;5.6.2.4;3.6.5.-;4.2.1.24;3.4.19.1;5.3.2.1;5.3.3.12;2.7.11.1;2.7.1.40;3.4.24.35;3.1.6.14;3.1.6.12;3.2.1.23;2.7.1.11;5.4.2.11;5.4.2.4;2.7.4.6;2.7.13.3;3.4.22.27;2.7.11.24;3.5.4.5;5.4.2.2;2.4.1.186;3.6.1.-;3.4.21.-;2.7.1.1;2.7.1.-;2.3.3.8;3.6.4.6;5.2.1.8;3.1.1.47;3.1.1.-;3.5.4.6;1.11.1.24;2.7.11.39;3.5.1.23;3.5.1.-;3.5.1.109;2.7.11.22;2.7.11.23;2.3.2.5;2.3.2.26;1.8.3.5;1.-.-.-;3.6.1.6;5.4.2.7;3.4.25.1;2.3.2.27;3.4.18.1;4.1.2.4", "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031093 platelet alpha granule lumen;GO:0034774 secretory granule lumen;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006508 proteolysis;GO:0051604 protein maturation;GO:0031638 zymogen activation;GO:0006956 complement activation;GO:0006957 complement activation, alternative pathway", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "P00746-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BW85-1", "uniprot_id": "YJU2_HUMAN", "mass": 37086.0, "length": 323, "protein_name": "Splicing factor YJU2", "gene_name": "YJU2", "organism": "Human", "refseq_name": "splicing factor YJU2", "refseq_ac": "NP_060544", "gene_names_uniprotkb": "YJU2; CCDC94", "gene_names_refseq": "CCDC94; YJU2", "protein_names_uniprotkb": "Splicing factor YJU2; Coiled-coil domain-containing protein 94", "protein_names_refseq": "coiled-coil domain containing 94; coiled-coil domain-containing protein 94; splicing factor YJU2", "tax_id": 9606, "disease": "", "pathway": " (hsa:55702); (R-HSA-72163)", "pathway_count": 2, "publication_count": 129, "publication_id_list": "10882114;11014198;11101529;11233976;11237011;11991638;12176931;12411573;12414731;12477934;14625303;14713954;16314458;16809785;17081983;17095540;17332742;17606899;18322460;18452278;18593880;18669648;19103666;19165350;19536130;19651622;19690332;20068231;20423332;20980672;21406692;21536652;2176635;22110043;22365833;22952453;22959432;22961380;23222130;23236153;23345524;23481700;24196718;24275569;24304693;24448447;24715725;24737827;24914973;25555158;25576301;2558966;25645385;26154972;26385511;26420826;26969736;26992070;27377154;27459055;27600516;27683217;27846572;28062851;28076346;28218747;28228285;28502770;28781166;28832583;29242379;29301961;29360106;29361316;29437277;29508533;29557506;2963332;30315122;30315277;30705154;30728453;30765414;30779550;30975767;31154438;31222486;31409651;31844290;31848261;31998317;32157095;32179686;32329775;32357974;32488085;32494006;32502341;32983136;33141586;33243851;33298915;33446560;33592498;33691108;33912179;33968037;33981976;34087483;34301950;34822310;34932366;35051231;35385551;35580925;36284347;3757028;37938771;40307207;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "Part of the spliceosome which catalyzes two sequential transesterification reactions, first the excision of the non-coding intron from pre-mRNA and then the ligation of the coding exons to form the mature mRNA (PubMed:29301961). Plays a role in stabilizing the structure of the spliceosome catalytic core and docking of the branch helix into the active site, producing 5'-exon and lariat intron-3'-intermediates (By similarity). May protect cells from TP53-dependent apoptosis upon dsDNA break damage through association with PRP19-CD5L complex (PubMed:22952453)., [UniProtKB, PubMed, HAMAP, 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": 11, "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": 2, "binding_glycan_count": 0, "secondary_ac_list": "O75270;Q9H862;Q9NW16", "ec_number_list": "", "go_molecular_function": "GO:0046872 metal ion binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0071006 U2-type catalytic step 1 spliceosome", "go_biological_process": "GO:0000349 generation of catalytic spliceosome for first transesterification step;GO:0000398 mRNA splicing, via spliceosome;GO:0043518 negative regulation of DNA damage response, signal transduction by p53 class mediator;GO:0045292 mRNA cis splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 13.2, "record_id": "Q9BW85-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O00175-1", "uniprot_id": "CCL24_HUMAN", "mass": 13134.0, "length": 119, "protein_name": "C-C motif chemokine 24", "gene_name": "CCL24", "organism": "Human", "refseq_name": "C-C motif chemokine 24 precursor", "refseq_ac": "NP_002982", "gene_names_uniprotkb": "CCL24; MPIF2; SCYA24", "gene_names_refseq": "CCL24; Ckb-6; MPIF-2; MPIF2; SCYA24", "protein_names_uniprotkb": "C-C motif chemokine 24; CK-beta-6; Eosinophil chemotactic protein 2; Eotaxin-2; MPIF-2; Myeloid progenitor inhibitory factor 2; Small-inducible cytokine A24", "protein_names_refseq": "C-C motif chemokine 24 precursor; C-C motif chemokine 24; CK-beta-6; chemokine (C-C motif) ligand 24; eosinophil chemotactic protein 2; eotaxin-2; myeloid progenitor inhibitory factor 2; small inducible cytokine subfamily A (Cys-Cys), member 24; small-inducible cytokine A24", "tax_id": 9606, "disease": "asthma (Disease Ontology:DOID:2841); rhinitis (Disease Ontology:DOID:4483); chronic fatigue syndrome (Disease Ontology:DOID:8544)", "pathway": " (hsa:6369)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "10913244;15340161;24715725;25377782;30237853;32157095;32350084;32983136;33043033;35251023;36131165;36342195;36380370;37345655;38334601;9104803;9365122", "class_list": "", "function": "CCL24 displays antimicrobial activity against S. pneumoniae, S. aureus, Non-typeable H. influenzae, and P. aeruginosa., [RefSeq, PubMed]; CCL24 regulates biliary inflammation and fibrosis in primary sclerosing cholangitis. Publication Status: Online-Only, [RefSeq, PubMed]; CCL24, CXCL9 and CXCL10 are increased in synovial fluid in patients with juvenile idiopathic arthritis requiring advanced treatment. Erratum:[Rheumatology (Oxford). 2025 Mar 1;64(3):1535. doi: 10.1093/rheumatology/keae352. PMID: 39059788], [RefSeq, PubMed]; CCL24/CCR3 axis plays a central role in angiotensin II-induced heart failure by stimulating M2 macrophage polarization and fibroblast activation., [RefSeq, PubMed]; Chemotactic for resting T-lymphocytes, and eosinophils (PubMed:9104803, PubMed:9365122). Has lower chemotactic activity for neutrophils but none for monocytes and activated lymphocytes (PubMed:9104803, PubMed:9365122). Is a strong suppressor of colony formation by a multipotential hematopoietic progenitor cell line (PubMed:9104803, PubMed:9365122). Binds to CCR3 (PubMed:9104803, PubMed:9365122)., [UniProtKB, PubMed, PubMed]; Eotaxin-2 and eotaxin-3 in malaria exposure and pregnancy. Publication Status: Online-Only, [RefSeq, PubMed]; The Role of CCL24 in Primary Sclerosing Cholangitis: Bridging Patient Serum Proteomics to Preclinical Data. Publication Status: Online-Only, [RefSeq, PubMed]; This gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity on resting T lymphocytes, a minimal activity on neutrophils, and is negative on monocytes and activated T lymphocytes. This protein also has antimicrobial activity, displaying an antibacterial effect on S. pneumoniae, S. aureus, Non-typeable H. influenzae, and P. aeruginosa. Finally, the protein is a strong suppressor of colony formation by a multipotential hematopoietic progenitor cell line. [provided by RefSeq, Jul 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": 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": 4, "reported_interactions": 0, "missing_score": 8686, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R5K2", "ec_number_list": "", "go_molecular_function": "GO:0048018 receptor ligand activity;GO:0008009 chemokine activity;GO:0048020 CCR chemokine receptor binding;GO:0031728 CCR3 chemokine receptor binding", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0006935 chemotaxis;GO:0006954 inflammatory response;GO:0006955 immune response;GO:0007165 signal transduction;GO:0007267 cell-cell signaling", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "O00175-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95674-1", "uniprot_id": "CDS2_HUMAN", "mass": 51418.0, "length": 445, "protein_name": "Phosphatidate cytidylyltransferase 2", "gene_name": "CDS2", "organism": "Human", "refseq_name": "phosphatidate cytidylyltransferase 2", "refseq_ac": "NP_003809", "gene_names_uniprotkb": "CDS2", "gene_names_refseq": "CDS2", "protein_names_uniprotkb": "Phosphatidate cytidylyltransferase 2; 2.7.7.41; CDP-DAG synthase 2; CDP-DG synthase 2; CDP-diacylglycerol synthase 2; CDP-diglyceride pyrophosphorylase 2; CDP-diglyceride synthase 2; CDS 2; CTP:phosphatidate cytidylyltransferase 2", "protein_names_refseq": "CDP-DAG synthase 2; CDP-DG synthase 2; CDP-DG synthetase 2; CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2; CDP-diglyceride diphosphorylase 2; CDP-diglyceride pyrophosphorylase 2; CDP-diglyceride synthase 2; CDP-diglyceride synthetase 2; CDS 2; CTP:phosphatidate cytidylyltransferase 2; cytidine diphosphate diacylglycerol synthase 2; phosphatidate cytidylyltransferase 2", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:8760); (R-HSA-1483148)", "pathway_count": 2, "publication_count": 64, "publication_id_list": "10.1101/2023.09.13.557529;17081983;18088087;18318008;18578522;18669648;18691976;19531498;19651622;19690332;20068231;20166139;21406692;21641550;23186163;24275569;24715725;25375833;25418920;25576301;25645385;26154972;26791533;26946540;27090790;27600516;28228285;28832583;29242379;30315122;30429286;31548309;31844290;31998317;32157095;32350084;32897882;32938616;33537174;33592498;33912179;33968037;33981976;34087483;34171305;34185709;34357683;34405274;34725712;35051231;35251023;35318648;35580925;36010968;36241641;36284347;3718705;8380172;8530346;9140189;9407135;9761774;9806839;9889000", "class_list": "", "function": "Breakdown products of phosphoinositides are ubiquitous second messengers that function downstream of many G protein-coupled receptors and tyrosine kinases regulating cell growth, calcium metabolism, and protein kinase C activity. This gene encodes an enzyme which regulates the amount of phosphatidylinositol available for signaling by catalyzing the conversion of phosphatidic acid to CDP-diacylglycerol. This enzyme is an integral membrane protein localized to two subcellular domains, the matrix side of the inner mitochondrial membrane where it is thought to be involved in the synthesis of phosphatidylglycerol and cardiolipin and the cytoplasmic side of the endoplasmic reticulum where it functions in phosphatidylinositol biosynthesis. Two genes encoding this enzyme have been identified in humans, one mapping to human chromosome 4q21 and a second to 20p13. [provided by RefSeq, Jul 2008]., [RefSeq]; Catalyzes the conversion of phosphatidic acid (PA) to CDP-diacylglycerol (CDP-DAG), an essential intermediate in the synthesis of phosphatidylglycerol, cardiolipin and phosphatidylinositol (PubMed:25375833). Exhibits specificity for the nature of the acyl chains at the sn-1 and sn-2 positions in the substrate, PA and the preferred acyl chain composition is 1-stearoyl-2-arachidonoyl-sn-phosphatidic acid (PubMed:25375833). Plays an important role in regulating the growth and maturation of lipid droplets which are storage organelles at the center of lipid and energy homeostasis (PubMed:26946540, PubMed:31548309)., [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": 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": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2RDC6;D3DW04;Q5TDY2;Q5TDY3;Q5TDY4;Q5TDY5;Q9BYK5;Q9NTT2", "ec_number_list": "2.7.7.41", "go_molecular_function": "GO:0004605 phosphatidate cytidylyltransferase activity", "go_cellular_component": "GO:0005743 mitochondrial inner membrane;GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0140042 lipid droplet formation;GO:0006655 phosphatidylglycerol biosynthetic process;GO:0016024 CDP-diacylglycerol biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "O95674-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0C7V0-1", "uniprot_id": "CF217_HUMAN", "mass": 29146.0, "length": 271, "protein_name": "Putative uncharacterized protein encoded by LINC00271", "gene_name": "AHI1-DT", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "AHI1-DT; C6orf217; LINC00271; NCRNA00271", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC00271; AHI1 divergent transcript", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 4, "publication_id_list": "15169551;24715725;33592498;33968037", "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": 0.5, "record_id": "P0C7V0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DN86-1", "uniprot_id": "CGB3_HUMAN", "mass": 17739.0, "length": 165, "protein_name": "Choriogonadotropin subunit beta 3", "gene_name": "CGB3; CGB5; CGB8", "organism": "Human", "refseq_name": "choriogonadotropin subunit beta 3 precursor", "refseq_ac": "NP_000728", "gene_names_uniprotkb": "CGB3; CGB5; CGB8; CGB", "gene_names_refseq": "CG-beta; CGB3; CGB", "protein_names_uniprotkb": "Choriogonadotropin subunit beta 3; CG-beta; Choriogonadotropin subunit beta; Chorionic gonadotropin chain beta", "protein_names_refseq": "choriogonadotropin subunit beta 3 precursor; choriogonadotropin subunit beta 3; chorionic gonadotrophin chain beta; chorionic gonadotropin beta 3 subunit; chorionic gonadotropin beta chain; chorionic gonadotropin beta subunit 3; chorionic gonadotropin chain beta; chorionic gonadotropin, beta polypeptide", "tax_id": 9606, "disease": "", "pathway": " (hsa:1082); (hsa:93659); (hsa:94115); (R-HSA-209822); (R-HSA-8866910)", "pathway_count": 5, "publication_count": 57, "publication_id_list": "10497269;10648798;1150658;11861891;1191677;1374031;14744778;15316280;15870067;16123088;16527410;16880503;1688430;16959230;17998543;1820200;19318566;1967025;19843847;20581866;23684889;24014048;24068570;2422163;2536708;25772240;26308378;2647161;26516771;26832794;30197330;31312959;32161166;3335536;34211107;34645361;39894887;468798;4795659;6194155;6196363;6643471;6690982;6774259;6774759;7215288;7240231;7462224;7891714;8202136;8895516;8898911;9162057;9182571;9449027;9687504;9850080", "class_list": "", "function": "A prospective cohort study on association of first-trimester serum biomarkers and risk of isolated foetal congenital heart defects., [RefSeq, PubMed]; Beta subunit of the human chorionic gonadotropin (hCG). hCG is a complex glycoprotein composed of two glycosylated subunits alpha and beta which are non-covalently associated. The alpha subunit is identical to those in the pituitary gonadotropin hormones (LH, FSH and TSH). The beta subunits are distinct in each of the hormones and confer receptor and biological specificity. Has an essential role in pregnancy and maternal adaptation. Stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy., [UniProtKB]; In this study, we observed that abnormal levels of serum hCG titers and the local presentation of lesions with varying intervals after antecedent term pregnancy were the most common presenting features of extrauterine ETT [Epithelioid trophoblastic tumor]., [RefSeq, PubMed]; The presence of hCGbeta positive tumor cells appears to potentially reflect the aggressive behavior of mucoepidermoid carcinoma and adenoid cystic carcinoma, [RefSeq, PubMed]; This gene is a member of the glycoprotein hormone beta chain family and encodes the beta 3 subunit of chorionic gonadotropin (CG). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. CG is produced by the trophoblastic cells of the placenta and stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy. The beta subunit of CG is encoded by 6 genes which are arranged in tandem and inverted pairs on chromosome 19q13.3 and contiguous with the luteinizing hormone beta subunit 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": 2, "mined_n_glycosites": 1, "mined_o_glycosites": 1, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 4, "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": 4, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 26, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 44, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A1A5E0;B9ZVP5;P01233;Q13991;Q14000;Q3KPI3;Q3SY41;Q8WTT5;Q8WXL1;Q8WXL2;Q8WXL3;Q8WXL4", "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:0007267 cell-cell signaling;GO:0006915 apoptotic process;GO:0009755 hormone-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 11.0, "record_id": "P0DN86-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P10747-1", "uniprot_id": "CD28_HUMAN", "mass": 25066.0, "length": 220, "protein_name": "T-cell-specific surface glycoprotein CD28", "gene_name": "CD28", "organism": "Human", "refseq_name": "T-cell-specific surface glycoprotein CD28 isoform 2 precursor", "refseq_ac": "NP_001230006", "gene_names_uniprotkb": "CD28", "gene_names_refseq": "CD28; IMD123; Tp44", "protein_names_uniprotkb": "T-cell-specific surface glycoprotein CD28; TP44", "protein_names_refseq": "T-cell-specific surface glycoprotein CD28 isoform 2 precursor", "tax_id": 9606, "disease": "immunodeficiency 123 (Disease Ontology:DOID:0061089); diabetic angiopathy (Disease Ontology:DOID:11713); leukemia (Disease Ontology:DOID:1240); respiratory syncytial virus infectious disease (Disease Ontology:DOID:1273); multiple sclerosis (Disease Ontology:DOID:2377); asthma (Disease Ontology:DOID:2841); interstitial lung disease (Disease Ontology:DOID:3082); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); rhinitis (Disease Ontology:DOID:4483); lymphopenia (Disease Ontology:DOID:614); pulmonary hypertension (Disease Ontology:DOID:6432); rheumatoid arthritis (Disease Ontology:DOID:7148); chronic fatigue syndrome (Disease Ontology:DOID:8544); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:940); (R-HSA-1257604); (R-HSA-164939); (R-HSA-2219530); (R-HSA-389356); (R-HSA-389357); (R-HSA-389359); (R-HSA-6811558)", "pathway_count": 8, "publication_count": 122, "publication_id_list": "10191262;10820259;10849438;11147812;11237011;11285224;11735222;11803464;11877290;11916166;12138205;12167717;12196291;12660731;12670391;12670394;12767043;1325671;15067037;15144186;15696168;15718470;15834429;15886116;16339315;16456541;1650475;16647110;16818765;17200115;17626883;18079394;18295596;18317450;18439422;18594509;18606717;18754654;18755892;18829560;18925875;19185485;19349973;19411071;19576174;19644473;19690332;19805105;19901323;19962665;20231295;20338997;20522708;20713702;21188471;21317208;21368164;21478295;2162892;21668414;21827948;21964608;21976531;21984976;22120714;22188813;22588880;22645359;22802530;22936936;24098653;24665965;24715725;25418920;26758079;26811146;26992070;28228285;2825196;28832583;28904123;29242379;29493099;30197180;31844290;33123756;33912179;34214472;35397202;36114179;36284347;36476893;37069229;37074911;37108169;37168864;37336986;7568038;7584133;7637810;7737275;7744773;7807015;8146197;8183372;8609386;8617933;8621607;8645157;8649453;8657148;8946678;8990121;8992971;9032261;9417079;9438848;9694876;9736715;9822663;9895304;9973466", "class_list": "", "function": "C-Kit signaling potentiates CAR T cell efficacy in solid tumors by CD28- and IL-2-independent co-stimulation., [RefSeq, PubMed]; Enhances CD40L-mediated activation of NF-kappa-B and kinases MAPK8 and PAK2 in T-cells (PubMed:15067037)., [UniProtKB, PubMed]; Genome-Wide Meta-Analysis Identifies Multiple Novel Rare Variants to Predict Common Human Infectious Diseases Risk. Publication Status: Online-Only, [RefSeq, PubMed]; Kidney allograft rejection is associated with an imbalance of B cells, regulatory T cells and differentiated CD28-CD8+ T cells: analysis of a cohort of 1095 graft biopsies. Publication Status: Online-Only, [RefSeq, PubMed]; Recent advancements in the B7/CD28 immune checkpoint families: new biology and clinical therapeutic strategies. Review article, [RefSeq, PubMed]; Receptor that plays a role in T-cell activation, proliferation, survival and the maintenance of immune homeostasis (PubMed:1650475, PubMed:7568038). Functions not only as an amplifier of TCR signals but delivers unique signals that control intracellular biochemical events that alter the gene expression program of T-cells (PubMed:24665965). Stimulation upon engagement of its cognate ligands CD80 or CD86 increases proliferation and expression of various cytokines in particular IL2 production in both CD4(+) and CD8(+) T-cell subsets (PubMed:12196291, PubMed:1650475, PubMed:35397202). Mechanistically, ligation induces recruitment of protein kinase C-theta/PRKCQ and GRB2 leading to NF-kappa-B activation via both PI3K/Akt-dependent and -independent pathways (PubMed:21964608, PubMed:24665965, PubMed:7568038). In conjunction with TCR/CD3 ligation and CD40L costimulation, enhances the production of IL4 and IL10 in T-cells (PubMed:8617933)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is essential for T-cell proliferation and survival, cytokine production, and T-helper type-2 development. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]., [RefSeq]; [Clinical Analysis of Pediatric Acute Leukemia Complicated with Septic Shock]., [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": 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": 10, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 9641, "biomarker_type": "", "glycan_count": 4, "disease_count": 14, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A8KAC1;Q13964;Q52M23;Q70WG0;Q8NI54;Q8NI55;Q8NI56;Q8WXJ2;Q9BYV0", "ec_number_list": "", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0015026 coreceptor activity;GO:0019901 protein kinase binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0009897 external side of plasma membrane;GO:0001772 immunological synapse", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0010628 positive regulation of gene expression;GO:0010629 negative regulation of gene expression;GO:0043066 negative regulation of apoptotic process;GO:0031295 T cell costimulation", "synthesized_glycan_count": 0, "hit_score": 13.2, "record_id": "P10747-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P27544-1", "uniprot_id": "CERS1_HUMAN", "mass": 39536.0, "length": 350, "protein_name": "Ceramide synthase 1", "gene_name": "CERS1", "organism": "Human", "refseq_name": "ceramide synthase 1 isoform 1", "refseq_ac": "NP_067090", "gene_names_uniprotkb": "CERS1; LAG1; LASS1; UOG1", "gene_names_refseq": "CERS1; EPM8; LAG1; LASS1; UOG1", "protein_names_uniprotkb": "Ceramide synthase 1; 2.3.1.24; 2.3.1.299; CerS1; LAG1 longevity assurance homolog 1; Longevity assurance gene 1 protein homolog 1; Protein UOG-1; Sphingoid base N-stearoyltransferase CERS1; Sphingosine N-acyltransferase CERS1", "protein_names_refseq": "Embryonic growth/differentiation factor 1; ceramide synthase 1 isoform 1; longevity assurance (LAG1, S. cerevisiae) homolog 1; longevity assurance gene 1 protein homolog 1; protein UOG-1; sphingoid base N-stearoyltransferase CERS1; upstream of GDF1", "tax_id": 9606, "disease": "progressive myoclonus epilepsy 8 (Disease Ontology:DOID:0111451)", "pathway": " (hsa:10715); (R-HSA-1660661)", "pathway_count": 2, "publication_count": 92, "publication_id_list": "10722674;10751414;10802064;10947957;11237011;11937514;12105227;14685229;14685263;14976195;15063729;15317812;15328338;15337768;16100120;16118219;16571669;16793762;16895911;17023427;17050692;17331073;17355976;17449912;17591919;17977534;17982138;18165232;18165233;18184806;19005213;19233134;19243074;19416851;19506037;20061445;20110355;20182505;2034669;21620961;22223895;22517924;22922758;22970244;23160995;23180825;23530041;23602659;23754960;24569996;24782409;25645385;25788259;26887952;26913518;26992070;27600516;28575652;28834231;29242379;29557506;29563527;30429286;30568303;30800706;31154438;31844290;31848261;31895563;31916624;32157095;32387766;32938616;33267708;33798445;33968037;34405274;34509645;35051231;35409383;36010968;36902339;36907437;37224812;37390971;38506902;4339164;4817756;9188692;9312549;9363775;9872981", "class_list": "glycogene", "function": "Ceramide synthase that catalyzes the transfer of the acyl chain from acyl-CoA to a sphingoid base, with high selectivity toward stearoyl-CoA (octadecanoyl-CoA; C18:0-CoA) (PubMed:17977534, PubMed:23530041, PubMed:26887952, PubMed:31916624). N-acylates sphinganine and sphingosine bases to form dihydroceramides and ceramides in de novo synthesis and salvage pathways, respectively (PubMed:17977534, PubMed:23530041, PubMed:24782409, PubMed:26887952, PubMed:31916624). Plays a predominant role in skeletal muscle in regulating C18 ceramide and dihydroceramide levels with an impact on whole-body glucose metabolism and insulin sensitivity. Protects from diet-induced obesity by suppressing the uptake of glucose in multiple organs in a FGF21-dependent way (By similarity). Generates C18 ceramides in the brain, playing a critical role in cerebellar development and Purkinje cell function (By similarity). In response to cellular stress mediates mitophagy, a known defense mechanism against cell transformation and aging. Upon mitochondria fission, generates C18 ceramides that anchor lipidated MAP1LC3B/LC3B-II autophagolysosomes to outer mitochondrial membranes to eliminate damaged mitochondria (PubMed:22922758)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Inhibition of CERS1 in skeletal muscle exacerbates age-related muscle dysfunction. Erratum:[Elife. 2024 May 20;13:e99846. doi: 10.7554/eLife.99846. PMID: 38767943] Publication Status: Online-Only, [RefSeq, PubMed]; LAG1 and C18-ceramide have roles in the regulation of growth of HNSCC, [RefSeq, PubMed]; Regulates N-stearoyl-sphinganine (C18-(dihydro)ceramide) synthesis in a fumonisin B1-independent manner in mammalian cel, [RefSeq, PubMed]; Single nucleotide polymorphisms in the gene LASS1 associated with programmed cell death, providing a potential cellular mechanism for the effects on tissue damage and circulating Creatine kinase., [RefSeq, PubMed]; The Potential Role of CERS1 in Autophagy Through PI3K/AKT Signaling Pathway in Hypophysoma., [RefSeq, PubMed]; This gene encodes a ceramide synthase enzyme, which catalyzes the synthesis of ceramide, the hydrophobic moiety of sphingolipids. The encoded enzyme synthesizes 18-carbon (C18) ceramide in brain neurons. Elevated expression of this gene may be associated with increased longevity, while decreased expression of this gene may be associated with myoclonus epilepsy with dementia in human patients. This protein is transcribed from a monocistronic mRNA as well as a bicistronic mRNA, which also encodes growth differentiation factor 1. [provided by RefSeq, Jul 2016]., [RefSeq]; This study highlights a close interaction between CLN5/CLN8 proteins, and their role in sphingolipid metabolism. Our findings suggest that CLN5p/CLN8p most likely are positive modulators of CerS1 and/or CerS2., [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": 1, "reported_glycation": 0, "reported_snv": 452, "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": "2.3.1.24;2.3.1.299;2.3.1.-;2.3.1.291;2.3.1.298;2.3.1.297", "go_molecular_function": "GO:0050291 sphingosine N-acyltransferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:1901526 positive regulation of mitophagy;GO:0046513 ceramide biosynthetic process;GO:0030148 sphingolipid biosynthetic process;GO:0071466 cellular response to xenobiotic stimulus;GO:0010614 negative regulation of cardiac muscle hypertrophy", "synthesized_glycan_count": 0, "hit_score": 9.3, "record_id": "P27544-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P32929-1", "uniprot_id": "CGL_HUMAN", "mass": 44508.0, "length": 405, "protein_name": "Cystathionine gamma-lyase", "gene_name": "CTH", "organism": "Human", "refseq_name": "cystathionine gamma-lyase isoform 3", "refseq_ac": "NP_001177392", "gene_names_uniprotkb": "CTH", "gene_names_refseq": "CGL; CSE; CTH", "protein_names_uniprotkb": "Cystathionine gamma-lyase; 4.4.1.1; 4.4.1.2; CGL; CSE; Cysteine desulfhydrase; Cysteine-protein sulfhydrase; Gamma-cystathionase; Homocysteine desulfhydrase", "protein_names_refseq": "cystathionase (cystathionine gamma-lyase); cystathionine gamma-lyase isoform 3; cysteine desulfhydrase; cysteine-protein sulfhydrase; gamma-cystathionase; homocysteine desulfhydrase; homoserine deaminase; homoserine dehydratase", "tax_id": 9606, "disease": "cystathioninuria (Disease Ontology:DOID:0090142); cataract (Disease Ontology:DOID:83); amino acid metabolic disorder (Disease Ontology:DOID:9252); homocystinuria (Disease Ontology:DOID:9263)", "pathway": " (hsa:1491); (R-HSA-1614558); (R-HSA-1614603); (R-HSA-2408508)", "pathway_count": 4, "publication_count": 111, "publication_id_list": "10052942;10212249;10727430;11524006;11578145;12574942;12871026;1339280;1483038;14978097;15151507;15347670;16037612;16195549;16408927;16444005;1711890;17135237;17451884;17525332;17581819;18476726;18872649;19019829;19261609;19625201;19961860;20164179;20305127;20383543;22169477;22718265;23038267;2339986;23413359;236774;23698001;24715725;25576301;25892735;26154972;26327310;26437775;26992070;27484215;27600516;27846572;27920218;28228285;28412453;28514659;28832583;28834231;28855257;28904123;29055825;29242379;29254196;29372909;29508533;29557506;29632711;29789417;30315122;30429286;31154438;31217245;31530632;31844290;31937595;31998317;32156684;32157095;32350084;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33592498;33626323;33717175;33912179;33968037;34087483;34171305;34211107;34357683;34509645;34932366;35051231;35138101;35318648;35580925;36010968;36241641;36284347;37800327;37922764;37938771;38238950;38388661;39362925;39534244;40596516;6456763;7305945;9070219;9537447", "class_list": "", "function": "Catalyzes the last step in the trans-sulfuration pathway from L-methionine to L-cysteine in a pyridoxal-5'-phosphate (PLP)-dependent manner, which consists on cleaving the L,L-cystathionine molecule into L-cysteine, ammonia and 2-oxobutanoate (PubMed:10212249, PubMed:18476726, PubMed:19261609, PubMed:19961860). Part of the L-cysteine derived from the trans-sulfuration pathway is utilized for biosynthesis of the ubiquitous antioxidant glutathione (PubMed:18476726). Besides its role in the conversion of L-cystathionine into L-cysteine, it utilizes L-cysteine and L-homocysteine as substrates (at much lower rates than L,L-cystathionine) to produce the endogenous gaseous signaling molecule hydrogen sulfide (H2S) (PubMed:10212249, PubMed:19019829, PubMed:19261609, PubMed:19961860). In vitro, it converts two L-cysteine molecules into lanthionine and H2S, also two L-homocysteine molecules to homolanthionine and H2S, which can be particularly relevant under conditions of severe hyperhomocysteinemia (which is a risk factor for cardiovascular disease, diabetes, and Alzheimer's disease) (PubMed:19261609). Lanthionine and homolanthionine are structural homologs of L,L-cystathionine that differ by the absence or presence of an extra methylene group, respectively (PubMed:19261609). Acts as a cysteine-protein sulfhydrase by mediating sulfhydration of target proteins: sulfhydration consists of converting -SH groups into -SSH on specific cysteine residues of target proteins such as GAPDH, PTPN1 and NF-kappa-B subunit RELA, thereby regulating their function (PubMed:22169477). By generating the gasotransmitter H2S, it participates in a number of physiological processes such as vasodilation, bone protection, and inflammation (Probable) (PubMed:29254196). Plays an essential role in myogenesis by contributing to the biogenesis of H2S in skeletal muscle tissue (By similarity). Can also accept homoserine as substrate (By similarity). Catalyzes the elimination of selenocystathionine (which can be derived from the diet) to yield selenocysteine, ammonia and 2-oxobutanoate (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; Cystathionine gamma-lyase has a role in regulating cell proliferation via a H2S-dependent modulation of ERK1/2 phosphorylation and p21Cip/WAK-1, [RefSeq, PubMed]; Cystathionine-gamma-lyase contributes to tamoxifen resistance, and the compound I194496 alleviates this effect by inhibiting the PPARgamma/ACSL1/STAT3 signalling pathway in oestrogen receptor-positive breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Disrupted Binding of Cystathionine gamma-Lyase to p53 Promotes Endothelial Senescence., [RefSeq, PubMed]; Hypoxia increases persulfide and polysulfide formation by AMP kinase dependent cystathionine gamma lyase phosphorylation., [RefSeq, PubMed]; Identifying CTH and MAP1LC3B as ferroptosis biomarkers for prognostic indication in gastric cancer decoding. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a cytoplasmic enzyme in the trans-sulfuration pathway that converts cystathione derived from methionine into cysteine. Glutathione synthesis in the liver is dependent upon the availability of cysteine. Mutations in this gene cause cystathioninuria. Alternative splicing of this gene results in three transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010]., [RefSeq]; Two nonsense mutations, namely exon 8 c.940-941delCT and exon 11 c.1220delC, and two missense mutations, namely exon 2 c.356C>T (T67I) and exon 7 c.874C>G (Q240E)were found in four probands with cystathioninuria, [RefSeq, PubMed]; [Exploration of cystathionine beta-synthase and cystathionine gamma-lyase gene expression poor prognostic predictive value with the application of bioinformatics data mining in liver cancer]., [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": 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": 11, "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": "B4E1R2;E9PDV0;Q53FB3;Q53Y79;Q9H4W7;Q9H4W8", "ec_number_list": "4.4.1.1;4.4.1.2", "go_molecular_function": "GO:0005516 calmodulin binding;GO:0030170 pyridoxal phosphate binding;GO:0042802 identical protein binding;GO:0004123 cystathionine gamma-lyase activity;GO:0044540 L-cystine L-cysteine-lyase (deaminating)", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0043066 negative regulation of apoptotic process;GO:0051289 protein homotetramerization;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0030968 endoplasmic reticulum unfolded protein response", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "P32929-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P51861-1", "uniprot_id": "CDR1_HUMAN", "mass": 31279.0, "length": 262, "protein_name": "Cerebellar degeneration-related antigen 1", "gene_name": "CDR1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "CDR1", "gene_names_refseq": "", "protein_names_uniprotkb": "Cerebellar degeneration-related antigen 1; CDR34", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 4, "publication_id_list": "15526989;2326268;32488085;3474619", "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": "Q5JXH6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "P51861-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q53S99-1", "uniprot_id": "CB083_HUMAN", "mass": 16373.0, "length": 150, "protein_name": "Putative solute carrier family 19 member 4", "gene_name": "SLC19A4P", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "SLC19A4P; C2orf83", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative solute carrier family 19 member 4; Folate transporter-like protein C2orf83; Solute carrier family 19 member 4, pseudogene", "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": "A2RRG6;B8ZZI8;Q9NPW4", "ec_number_list": "", "go_molecular_function": "GO:0090482 vitamin transmembrane transporter activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q53S99-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q569G3-1", "uniprot_id": "CE047_HUMAN", "mass": 19206.0, "length": 176, "protein_name": "Uncharacterized protein C5orf47", "gene_name": "C5orf47", "organism": "Human", "refseq_name": "uncharacterized protein C5orf47", "refseq_ac": "NP_001138426", "gene_names_uniprotkb": "C5orf47", "gene_names_refseq": "C5orf47", "protein_names_uniprotkb": "Uncharacterized protein C5orf47", "protein_names_refseq": "uncharacterized protein C5orf47", "tax_id": 9606, "disease": "", "pathway": " (hsa:133491)", "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": 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": "Q8IYU7", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q569G3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5JQF7-1", "uniprot_id": "CF100_HUMAN", "mass": 7289.0, "length": 62, "protein_name": "Putative uncharacterized protein encoded by LINC01556", "gene_name": "LINC01556", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "LINC01556; C6orf100", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC01556", "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": "B0S7Y3;B0V298;Q5SNN6;Q96KW1", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q5JQF7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5M9N0-1", "uniprot_id": "CD158_HUMAN", "mass": 127140.0, "length": 1113, "protein_name": "Coiled-coil domain-containing protein 158", "gene_name": "CCDC158", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 158 isoform 2", "refseq_ac": "NP_001036249", "gene_names_uniprotkb": "CCDC158", "gene_names_refseq": "CCDC158", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 158", "protein_names_refseq": "coiled-coil domain-containing protein 158 isoform 2; coiled-coil domain-containing protein 158", "tax_id": 9606, "disease": "", "pathway": " (hsa:339965)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;27600516;29242379;29351928;30379171;32938616;32983136;35051231;39319391", "class_list": "", "function": "Plays a role in receptor-mediated endocytosis in proximal tubular cells of the kidney., [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": 32, "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": "Q8IYQ1;Q8N7D4;Q8N7E3", "ec_number_list": "", "go_molecular_function": "GO:0030276 clathrin binding", "go_cellular_component": "GO:0005769 early endosome;GO:0030136 clathrin-coated vesicle", "go_biological_process": "GO:0006898 receptor-mediated endocytosis", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q5M9N0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99731-1", "uniprot_id": "CCL19_HUMAN", "mass": 10993.0, "length": 98, "protein_name": "C-C motif chemokine 19", "gene_name": "CCL19", "organism": "Human", "refseq_name": "C-C motif chemokine 19 precursor", "refseq_ac": "NP_006265", "gene_names_uniprotkb": "CCL19; ELC; MIP3B; SCYA19", "gene_names_refseq": "CCL19; CKb11; ELC; MIP-3b; MIP3B; SCYA19", "protein_names_uniprotkb": "C-C motif chemokine 19; Beta-chemokine exodus-3; CK beta-11; EBI1 ligand chemokine; ELC; Epstein-Barr virus-induced molecule 1 ligand chemokine; MIP-3-beta; Macrophage inflammatory protein 3 beta; Small-inducible cytokine A19", "protein_names_refseq": "C-C motif chemokine 19 precursor; C-C motif chemokine 19; CC chemokine ligand 19; CK beta-11; EBI1-ligand chemokine; MIP-3-beta; beta chemokine exodus-3; chemokine (C-C motif) ligand 19; epstein-Barr virus-induced molecule 1 ligand chemokine; macrophage inflammatory protein 3-beta; small inducible cytokine subfamily A (Cys-Cys), member 19; small-inducible cytokine A19", "tax_id": 9606, "disease": "pulmonary sarcoidosis (Disease Ontology:DOID:13406); asthma (Disease Ontology:DOID:2841); pulmonary fibrosis (Disease Ontology:DOID:3770)", "pathway": " (hsa:6363); (R-HSA-380108); (R-HSA-418594); (R-HSA-6783783)", "pathway_count": 4, "publication_count": 116, "publication_id_list": "10092818;10229797;10415057;10433356;10640743;10706668;10725696;10725697;10781587;11007482;11060282;11237011;12120503;12149255;12554737;12554859;12626585;12832402;12884299;12949249;1460289;15067078;15919823;15951850;16107333;16634148;16923326;16982608;1744577;1840701;18434541;18577758;1891716;1940369;1940799;20002784;20145033;2078213;2217207;23341447;23783831;2423119;24743777;2534964;27044744;2748346;2834384;29393594;29557506;2970963;3098319;32157095;3260265;32983136;36675182;36723865;37208608;38300311;39190494;7510216;7512027;7512451;7516408;7543512;7593617;7594602;7602097;7622448;7642634;7679328;7684412;7687627;7851893;7875320;7902377;7937899;8015379;8048929;8063757;8102388;8120391;8163946;8186324;8301137;8383238;8406495;8537680;8639485;8662928;8734788;8742066;8849694;8871669;8897595;8910398;8921438;8946277;9013939;9024663;9153236;9164944;9166430;9169459;9207005;9276730;9312047;9354687;9390561;9449724;9463416;9498785;9550426;9618518;9794440;9836587;9918218", "class_list": "", "function": "CCL19 (rs3136658) and CCL21 (rs2812377) Variants Are Associated With Susceptibility and Related Mortality of SARS-CoV-2 Infection., [RefSeq, PubMed]; CCL19 is an antimicrobial protein with bacteriocidal activity against E. coli., [RefSeq, PubMed]; CCL19/CCR7 drives regulatory T cell migration and indicates poor prognosis in gastric cancer. 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]; Downregulation of dermatopontin in cholangiocarcinoma cells suppresses CCL19 secretion of macrophages and immune infiltration. Publication Status: Online-Only, [RefSeq, PubMed]; Heparin Specifically Interacts with Basic BBXB Motifs of the Chemokine CCL21 to Define CCR7 Signaling. Publication Status: Online-Only, [RefSeq, PubMed]; May play a role not only in inflammatory and immunological responses but also in normal lymphocyte recirculation and homing. May play an important role in trafficking of T-cells in thymus, and T-cell and B-cell migration to secondary lymphoid organs. Binds to chemokine receptor CCR7. Recombinant CCL19 shows potent chemotactic activity for T-cells and B-cells but not for granulocytes and monocytes. Binds to atypical chemokine receptor ACKR4 and mediates the recruitment of beta-arrestin (ARRB1/2) to ACKR4., [UniProtKB, PubMed]; This antimicrobial gene is one of several CC cytokine genes clustered on the p-arm of chromosome 9. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene may play a role in normal lymphocyte recirculation and homing. It also plays an important role in trafficking of T cells in thymus, and in T cell and B cell migration to secondary lymphoid organs. It specifically binds to chemokine receptor CCR7. [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": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O00697;O00736", "ec_number_list": "", "go_molecular_function": "GO:0008009 chemokine activity;GO:0031735 CCR10 chemokine receptor binding;GO:0042379 chemokine receptor binding;GO:0048020 CCR chemokine receptor binding;GO:0031732 CCR7 chemokine receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:2000669 negative regulation of dendritic cell apoptotic process;GO:0006954 inflammatory response;GO:0006955 immune response;GO:0030335 positive regulation of cell migration;GO:0046330 positive regulation of JNK cascade", "synthesized_glycan_count": 0, "hit_score": 11.7, "record_id": "Q99731-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6UXH8-1", "uniprot_id": "CCBE1_HUMAN", "mass": 44103.0, "length": 406, "protein_name": "Collagen and calcium-binding EGF domain-containing protein 1", "gene_name": "CCBE1", "organism": "Human", "refseq_name": "collagen and calcium-binding EGF domain-containing protein 1 precursor", "refseq_ac": "NP_597716", "gene_names_uniprotkb": "CCBE1; KIAA1983; PRO4395", "gene_names_refseq": "CCBE1; HKLLS1", "protein_names_uniprotkb": "Collagen and calcium-binding EGF domain-containing protein 1; Full of fluid protein homolog", "protein_names_refseq": "collagen and calcium-binding EGF domain-containing protein 1 precursor; collagen and calcium-binding EGF domain-containing protein 1; full of fluid protein homolog", "tax_id": 9606, "disease": "Hennekam syndrome (Disease Ontology:DOID:0060366)", "pathway": " (hsa:147372)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;12975309;18466450;18519826;19287381;19911200;19935664;25326458;27846572;29485866;31844290;32337544;32938616;34411563;34931668;35051231;36213313;36781122;36849082;37453717;38092144;38726928", "class_list": "", "function": "CCBE1 promotes mitochondrial fusion by inhibiting the TGFbeta-DRP1 axis to prevent the progression of hepatocellular carcinoma., [RefSeq, PubMed]; Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Homozygous cysteine to serine change and SNPS in CCBE1 were identified patients. Erratum:[Hum Genet. 2010 Feb;127(2):243], [RefSeq, PubMed]; Hsa_circ_0076931 suppresses malignant biological properties, down-regulates miR-6760-3p through direct binding, and up-regulates CCBE1 in glioma., [RefSeq, PubMed]; Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans, [RefSeq, PubMed]; Neovascularization directed by CAVIN1/CCBE1/VEGFC confers TMZ-resistance in glioblastoma., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Required for lymphangioblast budding and angiogenic sprouting from venous endothelium during embryogenesis., [UniProtKB, PubMed]; The YAP-TEAD4 complex promotes tumor lymphangiogenesis by transcriptionally upregulating CCBE1 in colorectal cancer., [RefSeq, PubMed]; The promotion of non-small cell lung cancer progression by collagen and calcium binding EGF domain 1 is mediated through the regulation of ERK/JNK/P38 phosphorylation by reactive oxygen species., [RefSeq, PubMed]; This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian cancer cell lines and primary carcinomas, suggesting its role as a tumour suppressor. Mutations in this gene have been associated with Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymphatic dysplasia in humans. [provided by RefSeq, Mar 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": 0, "reported_o_glycosites": 1, "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": 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "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": "Q6MZX5;Q86SS2;Q8TF19", "ec_number_list": "", "go_molecular_function": "GO:0002020 protease binding;GO:0005509 calcium ion binding;GO:0005518 collagen binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0031012 extracellular matrix", "go_biological_process": "GO:0010575 positive regulation of vascular endothelial growth factor production;GO:0045766 positive regulation of angiogenesis;GO:0010954 positive regulation of protein processing;GO:0001946 lymphangiogenesis;GO:0002040 sprouting angiogenesis", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q6UXH8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZTY9-1", "uniprot_id": "CG065_HUMAN", "mass": 16773.0, "length": 151, "protein_name": "Putative uncharacterized protein LINC02902", "gene_name": "LINC02902", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "LINC02902; C7orf65", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein LINC02902; Long intergenic non-protein coding RNA 2902", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "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": "A4D2F8", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q6ZTY9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IVM0-1", "uniprot_id": "CCD50_HUMAN", "mass": 35822.0, "length": 306, "protein_name": "Coiled-coil domain-containing protein 50", "gene_name": "CCDC50", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 50 short isoform", "refseq_ac": "NP_777568", "gene_names_uniprotkb": "CCDC50; C3orf6", "gene_names_refseq": "C3orf6; CCDC50; DFNA44; YMER", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 50; Protein Ymer", "protein_names_refseq": "coiled-coil domain-containing protein 50 short isoform; coiled-coil domain-containing protein 50; protein Ymer", "tax_id": 9606, "disease": "mantle cell lymphoma (Disease Ontology:DOID:0050746); autosomal dominant nonsyndromic deafness 44 (Disease Ontology:DOID:0110569)", "pathway": " (hsa:152137)", "pathway_count": 1, "publication_count": 75, "publication_id_list": "12483295;14527723;15314609;15951569;17016520;17081983;17389395;17503326;19059208;19901323;23186163;23418353;23481700;23783831;24714562;25576301;26728094;26811146;26992070;27600516;27846572;27862975;27920218;28467828;28832583;28834231;28855257;28904123;29242379;29314611;29393594;29508533;29557506;29632046;29632711;30315122;30379171;30429286;30573663;30626607;30779550;30833945;31154438;31217245;31530632;31844290;31848261;32157095;32350084;32488085;32502341;32612200;32897882;32938616;32983136;33277610;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34405274;34453126;34932366;35051231;35251023;35580925;36284347;37672005;37938771;37965313;38665916;40596516", "class_list": "", "function": "A novel selective autophagy receptor, CCDC50, delivers K63 polyubiquitination-activated RIG-I/MDA5 for degradation during viral infection., [RefSeq, PubMed]; Autophagy receptor CCDC50 tunes the STING-mediated interferon response in viral infections and autoimmune diseases. Erratum:[Cell Mol Immunol. 2021 Dec;18(12):2682. doi: 10.1038/s41423-021-00777-7. PMID: 34654907], [RefSeq, PubMed]; CCDC50 promotes tumor growth through regulation of lysosome homeostasis., [RefSeq, PubMed]; Coiled-coil domain containing 50-V2 protein positively regulates neurite outgrowth. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of a novel DFNA locus on chromosome 3q28-29 in a Spanish family with postlingual and progressive hearing loss[DFNA44], [RefSeq, PubMed]; Involved in EGFR signaling., [UniProtKB, PubMed]; Molecular profiling of clinical remission in psoriatic arthritis reveals dysregulation of FOS and CCDC50 genes: a gene expression study. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. 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": 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": 11, "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": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q86VH7", "ec_number_list": "", "go_molecular_function": "GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0007605 sensory perception of sound", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q8IVM0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N4T0-1", "uniprot_id": "CBPA6_HUMAN", "mass": 51008.0, "length": 437, "protein_name": "Carboxypeptidase A6", "gene_name": "CPA6", "organism": "Human", "refseq_name": "carboxypeptidase A6 isoform 1 preproprotein", "refseq_ac": "NP_065094", "gene_names_uniprotkb": "CPA6; CPAH", "gene_names_refseq": "CPA6; CPAH; ETL5; FEB11", "protein_names_uniprotkb": "Carboxypeptidase A6; 3.4.17.-", "protein_names_refseq": "carboxypeptidase A6 isoform 1 preproprotein; carboxypeptidase B", "tax_id": 9606, "disease": "familial temporal lobe epilepsy 5 (Disease Ontology:DOID:0060752); familial febrile seizures 11 (Disease Ontology:DOID:0111308)", "pathway": " (hsa:57094)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11836249;12454025;18178555;19790060;19913121;20855895;21922598;24715725;28411811;29557506;29650774;30779550;31217245;31612389;31844290;32570281;33141586;33392160;35051231;37011707", "class_list": "", "function": "CPA6 may have a role in the regulation of neuropeptides in the extracellular environment within the olfactory bulb and other parts of the brain, [RefSeq, PubMed]; CPA6 promotes the proliferation and migration of hepatocellular carcinoma by up-regulating AKT signaling pathway., [RefSeq, PubMed]; Carboxypeptidase A6 suppresses the proliferation and invasion of colorectal cancer cells and is negatively regulated by miR-96-3p., [RefSeq, PubMed]; Carboxypeptidase A6 was identified and validated as a novel potential biomarker for predicting the occurrence of active ulcerative colitis., [RefSeq, PubMed]; Common variants in PRPF31 and CPA6 were associated with worse and better metformin response, respectively., [RefSeq, PubMed]; May be involved in the proteolytic inactivation of enkephalins and neurotensin in some brain areas. May convert inactive angiotensin I into the biologically active angiotensin II (PubMed:18178555). Releases a C-terminal amino acid, with preference for large hydrophobic C-terminal amino acids and shows only very weak activity toward small amino acids and histidine (PubMed:20855895)., [UniProtKB, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Substrate specificity of human carboxypeptidase A6, [RefSeq, PubMed]; The CPAH gene was interrupted in a patient with DURS carrying a translocation break point in the DURS1 region on chromosome 8q13., [RefSeq, PubMed]; The gene encodes a member of the peptidase M14 family of metallocarboxypeptidases. The encoded preproprotein is proteolytically processed to generate the mature enzyme, which catalyzes the release of large hydrophobic C-terminal amino acids. This enzyme has functions ranging from digestion of food to selective biosynthesis of neuroendocrine peptides. Mutations in this gene may be linked to epilepsy and febrile seizures, and a translocation t(6;8)(q26;q13) involving this gene has been associated with Duane retraction syndrome. [provided by RefSeq, May 2016]., [RefSeq]; Thrombin activation of osteopontin (OPN) (resulting in OPN-R) and its subsequent inactivation by thrombin-activatable carboxypeptidase B (generating OPN-L) occurs locally within inflamed joints in rheumatoid arthritis., [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": 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": 21, "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": "Q8NEX8;Q8TDE8;Q9NRI9", "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": 2.3, "record_id": "Q8N4T0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N6Q3-1", "uniprot_id": "CD177_HUMAN", "mass": 46363.0, "length": 437, "protein_name": "CD177 antigen", "gene_name": "CD177", "organism": "Human", "refseq_name": "CD177 antigen precursor", "refseq_ac": "NP_065139", "gene_names_uniprotkb": "CD177; NB1; PRO1181; PRV1", "gene_names_refseq": "CD177; HNA-2a; HNA-2; HNA2A; NB1 GP; NB1; PRV-1; PRV1", "protein_names_uniprotkb": "CD177 antigen; HNA-2a; Human neutrophil alloantigen 2a; NB1 GP; NB1 glycoprotein; PRV-1; Polycythemia rubra vera protein 1", "protein_names_refseq": "CD177 antigen precursor; CD177 antigen; NB1 glycoprotein; cell surface receptor; human neutrophil alloantigen 2a; human neutrophil antigen 2; polycythemia rubra vera protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:57126); (R-HSA-202733); (R-HSA-6798695); (R-HSA-9769739)", "pathway_count": 4, "publication_count": 134, "publication_id_list": "10026158;10606205;10753836;10764623;11035113;11207550;11237011;11238108;11256994;11465086;11564780;11779189;11812992;11833835;12010833;12052963;12070135;12208882;12239154;12377969;12469115;12623849;12675722;12782713;12907439;12975309;14529530;14615387;14692971;15000751;15340161;15528364;15681301;15721307;1591491;16161994;1618828;16258728;16297198;16585556;16619025;16691243;16737840;16783819;17064312;17099249;17116209;17167768;17172599;17244676;17322099;17379836;17442946;17452516;17505016;17506785;17525755;17563375;17580308;17598008;17600130;17615384;17625065;17635713;18462208;1902833;19279206;19297154;1930190;20427285;21193407;21193412;21659548;21932952;22144186;22618708;2271516;22786881;23202369;23461681;23650620;23683607;2384594;23945545;24043627;24554904;24764293;24926686;2538457;25713144;25855704;27227454;28228285;28240246;28807980;29419409;29557506;29789417;30918026;31262782;31439947;31844290;32157095;32387766;35063507;36010968;36352147;36951953;3744129;37726033;38474126;3863104;39131159;468991;6323392;7499257;7509040;7521878;8144529;8163559;8166770;8314844;8639781;8692836;9052782;9169774;9218519;9242610;9295288;9382878;9459334;9469622;9693095;9763524", "class_list": "", "function": "CD177 is a novel IgG Fc receptor and CD177 genetic variants affect IgG-mediated function. Publication Status: Online-Only, [RefSeq, PubMed]; Competitively disrupting the neutrophil-specific receptor-autoantigen CD177:proteinase 3 membrane complex reduces anti-PR3 antibody-induced neutrophil activation., [RefSeq, PubMed]; Diagnostic, prognostic, and immunological roles of CD177 in cervical cancer., [RefSeq, PubMed]; In association with beta-2 integrin heterodimer ITGAM/CD11b and ITGB2/CD18, mediates activation of TNF primed neutrophils including degranulation and superoxide production (PubMed:21193407). In addition, by preventing beta-2 integrin internalization and attenuating chemokine signaling favors adhesion over migration (PubMed:28807980). Heterophilic interaction with PECAM1 on endothelial cells plays a role in neutrophil transendothelial migration in vitro (PubMed:17580308). However, appears to be dispensable for neutrophil recruitment caused by bacterial infection in vivo (PubMed:23461681). Acts as a receptor for the mature form of protease PRTN3 allowing its display at the cell surface of neutrophils (PubMed:17244676, PubMed:18462208). By displaying PRTN3 at the neutrophil cell surface, may play a role in enhancing endothelial cell junctional integrity and thus vascular integrity during neutrophil diapedesis (PubMed:23202369)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The CD177 c.1291A Allele Leads to a Loss of Membrane Expression and Mimics a CD177-Null Phenotype. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a glycosyl-phosphatidylinositol (GPI)-linked cell surface glycoprotein that plays a role in neutrophil activation. The protein can bind platelet endothelial cell adhesion molecule-1 and function in neutrophil transmigration. Mutations in this gene are associated with myeloproliferative diseases. Over-expression of this gene has been found in patients with polycythemia rubra vera. Autoantibodies against the protein may result in pulmonary transfusion reactions, and it may be involved in Wegener's granulomatosis. A related pseudogene, which is adjacent to this gene on chromosome 19, has been identified. [provided by RefSeq, Apr 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q711Q2;Q8NCV9;Q96QH1;Q9HDA5", "ec_number_list": "", "go_molecular_function": "GO:0002020 protease binding;GO:0005178 integrin binding;GO:0048306 calcium-dependent protein binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030027 lamellipodium;GO:0035579 specific granule membrane;GO:0044853 plasma membrane raft;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007155 cell adhesion;GO:0030100 regulation of endocytosis;GO:0032930 positive regulation of superoxide anion generation;GO:0045087 innate immune response;GO:0098609 cell-cell adhesion", "synthesized_glycan_count": 0, "hit_score": 13.5, "record_id": "Q8N6Q3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N8R5-1", "uniprot_id": "CB069_HUMAN", "mass": 43448.0, "length": 385, "protein_name": "Mitochondrial protein C2orf69", "gene_name": "C2orf69", "organism": "Human", "refseq_name": "mitochondrial protein C2orf69 precursor", "refseq_ac": "NP_710156", "gene_names_uniprotkb": "C2orf69", "gene_names_refseq": "C2orf69; COXPD53", "protein_names_uniprotkb": "Mitochondrial protein C2orf69", "protein_names_refseq": "UPF0565 protein C2orf69; mitochondrial protein C2orf69 precursor; mitochondrial protein C2orf69", "tax_id": 9606, "disease": "combined oxidative phosphorylation deficiency 53 (Disease Ontology:DOID:0070426)", "pathway": " (hsa:205327)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "28218747;30779550;31217245;31844290;32157095;32488085;32938616;33945503;34038740;39894887;40307207", "class_list": "", "function": "C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation., [RefSeq, PubMed]; Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy. Erratum:[Am J Hum Genet. 2021 Jul 1;108(7):1356. doi: 10.1016/j.ajhg.2021.06.009. PMID: 34214448], [RefSeq, PubMed]; May play a role in the respiratory chain., [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": 1, "reported_glycation": 0, "reported_snv": 11, "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": "Q8NE30", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006119 oxidative phosphorylation;GO:0022904 respiratory electron transport chain", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q8N8R5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NHW4-1", "uniprot_id": "CC4L_HUMAN", "mass": 10166.0, "length": 92, "protein_name": "C-C motif chemokine 4-like", "gene_name": "CCL4L1; CCL4L2", "organism": "Human", "refseq_name": "C-C motif chemokine 4-like isoform 1 precursor", "refseq_ac": "NP_001278397", "gene_names_uniprotkb": "CCL4L1; CCL4L2; CCL4L; LAG1; SCYA4L1; SCYA4L2", "gene_names_refseq": "AT744.2; CCL4L2; CCL4L; SCYA4L; SCYQ4L2", "protein_names_uniprotkb": "C-C motif chemokine 4-like; LAG-1; Lymphocyte activation gene 1 protein; MIP-1-beta; Macrophage inflammatory protein 1-beta; Monocyte adherence-induced protein 5-alpha; Small-inducible cytokine A4-like", "protein_names_refseq": "C-C motif chemokine 4-like isoform 1 precursor; C-C motif chemokine 4-like; MIP-1-beta; chemokine (C-C motif) ligand 4-like 2; macrophage inflammatory protein 1-beta; macrophage inflammatory protein-1b2; monocyte adherence-induced protein 5-alpha", "tax_id": 9606, "disease": "status epilepticus (Disease Ontology:DOID:1824); anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:388372); (hsa:9560); (R-HSA-418594)", "pathway_count": 3, "publication_count": 31, "publication_id_list": "11007482;11685466;12120503;14673550;15028295;15240137;15843566;15951850;16634148;16923326;17330138;18434541;18577758;21614014;24727646;2534964;25449536;25502872;2748346;2834384;32157095;32350084;33043033;33091337;33630763;35051231;37285400;38459188;7937899;8015379;8406495", "class_list": "", "function": "Association of VEGFA and CCL4L2 polymorphisms with hand-foot skin reaction and survival of regorafenib in Japanese patients with colorectal cancer., [RefSeq, PubMed]; CCL4L1 allele frequency is higher in severe psoriasis, whereas CCL4L2 is more frequent in patients with a milder disease., [RefSeq, PubMed]; Chemokine that induces chemotaxis of cells expressing CCR5 or CCR1. Inhibits HIV replication in peripheral blood monocytes that express CCR5., [UniProtKB, PubMed]; Identified 13 ADCC-activated genes. Six gene expression assays including 8 of the 13 genes (CCL3, CCL4/CCL4L1/CCL4L2, CD160, IFNG, NR4A3 and XCL1/XCL2) were analyzed in 127 kidney biopsies, [RefSeq, PubMed]; Neutrophil extracellular trap production and CCL4L2 expression influence corticosteroid response in asthma., [RefSeq, PubMed]; PCR results show that lower copy numbers of CCL4L2 are observed in the Caucasian population nd higher copy numbers are observed in the Black population of South Africa., [RefSeq, PubMed]; This gene is one of several cytokine genes that are clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins that function in inflammatory and immunoregulatory processes. The protein encoded by this family member is similar to the chemokine (C-C motif) ligand 4 product, which inhibits HIV entry by binding to the cellular receptor CCR5. The copy number of this gene varies among individuals, where most individuals have one to five copies. This gene copy contains a non-consensus splice acceptor site at the 3' terminal exon found in other highly similar gene copies, and it thus uses other alternative splice sites for the 3' terminal exon, resulting 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RUZ3;B7ZMA8;Q50EM1;Q50EM2;Q50EM3;Q50EM4;Q50EM5;Q50EM6;Q50EM7;Q50EM8;Q569J2;Q6NSB0", "ec_number_list": "", "go_molecular_function": "GO:0008009 chemokine activity;GO:0048020 CCR chemokine receptor binding", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0006954 inflammatory response;GO:0030335 positive regulation of cell migration;GO:0061844 antimicrobial humoral immune response mediated by antimicrobial peptide;GO:0070098 chemokine-mediated signaling pathway;GO:0048245 eosinophil chemotaxis", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q8NHW4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WU49-1", "uniprot_id": "CG033_HUMAN", "mass": 19475.0, "length": 177, "protein_name": "Uncharacterized protein C7orf33", "gene_name": "C7orf33", "organism": "Human", "refseq_name": "uncharacterized protein C7orf33", "refseq_ac": "NP_660347", "gene_names_uniprotkb": "C7orf33", "gene_names_refseq": "C7orf33", "protein_names_uniprotkb": "Uncharacterized protein C7orf33", "protein_names_refseq": "uncharacterized protein C7orf33", "tax_id": 9606, "disease": "", "pathway": " (hsa:202865)", "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": 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_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q8WU49-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99467-1", "uniprot_id": "CD180_HUMAN", "mass": 74179.0, "length": 661, "protein_name": "CD180 antigen", "gene_name": "CD180", "organism": "Human", "refseq_name": "CD180 antigen precursor", "refseq_ac": "NP_005573", "gene_names_uniprotkb": "CD180; LY64; RP105", "gene_names_refseq": "CD180; LY64; Ly78; RP105", "protein_names_uniprotkb": "CD180 antigen; Lymphocyte antigen 64; Radioprotective 105 kDa protein", "protein_names_refseq": "CD180 antigen precursor; CD180 antigen; lymphocyte antigen 64; lymphocyte antigen-64, radioprotective, 105kDa; radioprotective 105 kDa protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:4064); (R-HSA-166016)", "pathway_count": 2, "publication_count": 70, "publication_id_list": "10.1101/2023.09.13.557529;10201950;11274165;12471095;14556004;15276183;15340161;15596121;15852007;16303959;16467847;16751103;16757566;18222170;18233961;18297073;19159218;19664994;21959264;22078883;22158869;23481700;24190977;2462607;24714562;2477488;25576301;25825441;25892735;26728094;26992070;27862975;28063628;28832583;29242379;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30429286;30524438;31844290;31848261;32350084;32357974;32387766;32502341;32983136;33091337;33123756;33691108;33904315;33936100;34124274;34509645;35051231;3537192;35561310;35580925;35849076;36284347;37074911;37460961;37938771;8975706;9665271;9763566", "class_list": "", "function": "CD150 and CD180 are negative regulators of IL-10 expression and secretion in chronic lymphocytic leukemia B cells., [RefSeq, PubMed]; CD180 is a cell surface molecule consisting of extracellular leucine-rich repeats (LRR) and a short cytoplasmic tail. The extracellular LRR is associated with a molecule called MD-1 and form the cell surface receptor complex, RP105/MD-1. It belongs to the family of pathogen receptors, Toll-like receptors (TLR). RP105/MD1, by working in concert with TLR4, controls B cell recognition and signaling of lipopolysaccharide (LPS), a membrane constituent of Gram-negative bacteria. [provided by RefSeq, Jul 2008]., [RefSeq]; Cell surface expression of human RP105 depends on N-glycosylation of MD-1., [RefSeq, PubMed]; Pattern recognition receptor predominantly expressed on B-cells, dendritic cells, and certain monocytes/macrophages, structurally resembling Toll-like receptors (TLRs) that plays a role in modulating immune responses (PubMed:15852007). While ressembling a TLR, lacks the intracellular TIR (Toll/IL-1R) signaling domain and thus does not directly transduce signals. Instead, modulates immune responses, often in conjunction with other TLRs. For example, in cooperation with MD-1/LY86, interacts directly with the TLR4 signaling complex, inhibiting its ability to bind microbial ligand (PubMed:15852007)., [UniProtKB, PubMed]; The role of CD180 in hematological malignancies and inflammatory disorders. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Toll-Like Receptor Homolog CD180 Expression Is Diminished on Natural Autoantibody-Producing B Cells of Patients with Autoimmune CNS Disorders. Publication Status: Online-Only, [RefSeq, PubMed]", "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": 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": 2, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 39, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 11, "disease_count": 0, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "B2R7Z7;Q32MM5", "ec_number_list": "", "go_molecular_function": "GO:0001875 lipopolysaccharide immune receptor activity;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0006954 inflammatory response;GO:0045087 innate immune response;GO:0071222 cellular response to lipopolysaccharide;GO:0002322 B cell proliferation involved in immune response;GO:0042100 B cell proliferation", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "Q99467-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99626-1", "uniprot_id": "CDX2_HUMAN", "mass": 33520.0, "length": 313, "protein_name": "Homeobox protein CDX-2", "gene_name": "CDX2", "organism": "Human", "refseq_name": "homeobox protein CDX-2 isoform 1", "refseq_ac": "NP_001256", "gene_names_uniprotkb": "CDX2; CDX3", "gene_names_refseq": "CDX-3; CDX2/AS; CDX2; CDX3", "protein_names_uniprotkb": "Homeobox protein CDX-2; CDX-3; Caudal-type homeobox protein 2", "protein_names_refseq": "caudal type homeobox transcription factor 2; caudal-type homeobox protein 2; homeobox protein CDX-2 isoform 1; homeobox protein CDX-2; homeobox protein miniCDX2", "tax_id": 9606, "disease": "Barrett's esophagus (Disease Ontology:DOID:9206)", "pathway": " (hsa:1045); (R-HSA-381771)", "pathway_count": 2, "publication_count": 41, "publication_id_list": "11161380;11564718;11729123;11978683;12540594;12651102;12810581;14719035;14719797;1499644;15126524;15584901;15619630;16027724;16219666;16728727;17065399;17681422;18519800;19001044;28473536;29242379;29557506;29789417;30315122;30828317;32387766;34509645;35051231;3841689;38514066;38555678;3900195;39060046;7883856;8100523;8105782;8798518;9036867;9459001;9933478", "class_list": "", "function": "Combined Use of Helicobacter pylori Genotyping and CDX2 Expression as a Predictor of Malignant Potential in Gastric Intestinal Metaplasia., [RefSeq, PubMed]; Concomitant expression patterns of CDX2 and SATB2 as prognostic factors in stage III colorectal cancers., [RefSeq, PubMed]; Knockdown of CDX2 Induces microRNA-221 Up-regulation in Human Colon Cancer Cells., [RefSeq, PubMed]; This gene is a member of the caudal-related homeobox transcription factor gene family. The encoded protein is a major regulator of intestine-specific genes involved in cell growth an differentiation. This protein also plays a role in early embryonic development of the intestinal tract. Aberrant expression of this gene is associated with intestinal inflammation and tumorigenesis. [provided by RefSeq, Jan 2012]., [RefSeq]; Transcription factor which regulates the transcription of multiple genes expressed in the intestinal epithelium (By similarity). Binds to the promoter of the intestinal sucrase-isomaltase SI and activates SI transcription (By similarity). Binds to the DNA sequence 5'-ATAAAAACTTAT-3' in the promoter region of VDR and activates VDR transcription (By similarity). Binds to and activates transcription of LPH (By similarity). Activates transcription of CLDN2 and intestinal mucin MUC2 (By similarity). Binds to the 5'-AATTTTTTACAACACCT-3' DNA sequence in the promoter region of CA1 and activates CA1 transcription (By similarity). Important in broad range of functions from early differentiation to maintenance of the intestinal epithelial lining of both the small and large intestine. Binds preferentially to methylated DNA (PubMed:28473536)., [UniProtKB, UniProtKB, PubMed, 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": 10, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "O00503;Q5VTU7;Q969L8;Q9UD92", "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:0000794 condensed nuclear chromosome;GO:0005634 nucleus;GO:0017053 transcription repressor complex;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:0008284 positive regulation of cell population proliferation;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q99626-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9GZU0-1", "uniprot_id": "CF062_HUMAN", "mass": 27083.0, "length": 229, "protein_name": "Uncharacterized protein C6orf62", "gene_name": "C6orf62", "organism": "Human", "refseq_name": "uncharacterized protein C6orf62 isoform 1", "refseq_ac": "NP_112201", "gene_names_uniprotkb": "C6orf62; Nbla00237; XTP12", "gene_names_refseq": "C6orf62; Nbla00237; XTP12; dJ30M3.2", "protein_names_uniprotkb": "Uncharacterized protein C6orf62; HBV X-transactivated gene 12 protein; HBV XAg-transactivated protein 12", "protein_names_refseq": "HBV X-transactivated gene 12 protein; HBV X-transactivated protein 12; HBV XAg-transactivated protein 12; uncharacterized protein C6orf62 isoform 1; uncharacterized protein C6orf62", "tax_id": 9606, "disease": "", "pathway": " (hsa:81688)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11230166;12880961;26375851;26992070;28228285;28834231;28904123;29242379;30315122;30429286;31844290;32488085;33968037;35051231;35580925", "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": "Q3LIB6;Q5JVZ2;Q5JVZ3;Q6IA63;Q9H1Z2", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q9GZU0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HCU0-1", "uniprot_id": "CD248_HUMAN", "mass": 80859.0, "length": 757, "protein_name": "Endosialin", "gene_name": "CD248", "organism": "Human", "refseq_name": "endosialin precursor", "refseq_ac": "NP_065137", "gene_names_uniprotkb": "CD248; CD164L1; TEM1", "gene_names_refseq": "CD164L1; CD248; TEM1", "protein_names_uniprotkb": "Endosialin; Tumor endothelial marker 1", "protein_names_refseq": "2610111G01Rik; CD164 sialomucin-like 1; CD248 antigen, endosialin; CD248 molecule, endosialin; endosialin precursor; tumor endothelial marker 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:57124)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "10947988;11084048;1438285;15624764;15862292;16076089;16959974;20484976;21466550;24275569;25576301;27846572;28671670;30459171;31154438;31844290;32502341;33936100;34405274;35051231;37298499;38129304;38254097;38396325;38665916;39113704", "class_list": "glycogene", "function": "Cell surface glycoprotein involved in various biological processes including angiogenesis, immune response modulation, and tissue remodeling and repair. Participates in pericyte proliferation through positive modulation of the PDGF receptor signaling pathway (PubMed:20484976). Acts as a scaffold for factor X, triggering allosteric changes and the spatial re-alignment of factor X with the TF-factor VIIa complex, thereby enhancing coagulation activation. Modulates the insulin signaling pathway by interacting with insulin receptor/INSR and by diminishing its capacity to be autophosphorylated in response to insulin. Also regulates LPS-induced inflammatory response in macrophages by favoring the production of proinflammatory cytokines. In human, negatively regulates T-cell proliferation compared with stromal cells where it increases proliferation (PubMed:21466550)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Endosialin colocalized with thrombomodulin, suggesting the proteins may have complementary functions in tumor progression., [RefSeq, PubMed]; IL-8 from CD248-expressing cancer-associated fibroblasts generates cisplatin resistance in non-small cell lung cancer., [RefSeq, PubMed]; Inflammatory Mesenchymal Stem Cells Express Abundant Membrane-Bound and Soluble Forms of C-Type Lectin-like CD248. Publication Status: Online-Only, [RefSeq, PubMed]; Regulation of matrix reloading by tumor endothelial marker 1 protects against abdominal aortic aneurysm. Publication Status: Online-Only, [RefSeq, PubMed]; TEM1/endosialin/CD248 promotes pathologic scarring and TGF-beta activity through its receptor stability in dermal fibroblasts. Publication Status: Online-Only, [RefSeq, PubMed]; [Expression of endosialin in human hypertrophic scars and its regulation on fibroblast phenotype]., [RefSeq, PubMed]", "predicted_glycosites": 19, "predicted_n_glycosites": 0, "predicted_o_glycosites": 19, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 10, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 17, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 17, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 17, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 926, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 0, "glyco_site_count": 35, "binding_glycan_count": 0, "secondary_ac_list": "Q2M2V5;Q3SX55;Q96KB6", "ec_number_list": "", "go_molecular_function": "GO:1990430 extracellular matrix protein binding;GO:0005509 calcium ion binding;GO:0030246 carbohydrate binding;GO:0050840 extracellular matrix binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0016477 cell migration", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q9HCU0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HD87-1", "uniprot_id": "CF050_HUMAN", "mass": 12368.0, "length": 102, "protein_name": "Putative uncharacterized protein C6orf50", "gene_name": "C6orf50", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "C6orf50; NAG19", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein C6orf50; Nasopharyngeal carcinoma-associated gene 19 protein", "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": "Q9HD87-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NRJ3-1", "uniprot_id": "CCL28_HUMAN", "mass": 14280.0, "length": 127, "protein_name": "C-C motif chemokine 28", "gene_name": "CCL28", "organism": "Human", "refseq_name": "C-C motif chemokine 28 isoform a precursor", "refseq_ac": "NP_001288802", "gene_names_uniprotkb": "CCL28; SCYA28", "gene_names_refseq": "CCK1; CCL28; MEC; SCYA28", "protein_names_uniprotkb": "C-C motif chemokine 28; MEC; Mucosae-associated epithelial chemokine; Protein CCK1; Small-inducible cytokine A28", "protein_names_refseq": "C-C motif chemokine 28 isoform a precursor; C-C motif chemokine 28; CC chemokine CCL28; chemokine (C-C motif) ligand 28; mucosae-associated epithelial chemokine; small inducible cytokine A28; small inducible cytokine subfamily A (Cys-Cys), member 28", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763); atopic dermatitis (Disease Ontology:DOID:3310); lymphopenia (Disease Ontology:DOID:614)", "pathway": " (hsa:56477); (R-HSA-380108); (R-HSA-418594)", "pathway_count": 3, "publication_count": 68, "publication_id_list": "10229797;10640743;10706668;10725696;10725697;10781587;10975800;11007482;11060282;11237011;12120503;12149255;12538707;12554737;12884299;15067078;15951850;16107333;16634148;16923326;1744577;1840701;18434541;18577758;1891716;20002784;2078213;2217207;2423119;2534964;2748346;27600516;28228285;2834384;29493099;2970963;3098319;31844290;32157095;3260265;35580925;36284347;37222480;37394140;38453037;39075504;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": "Analysis of the mucosal chemokines CCL28, CXCL14, and CXCL17 in dry eye disease: An in vitro and clinical investigation., [RefSeq, PubMed]; CCL28 may play dual roles in mucosal immunity as a chemoattractant for cells expressing CCR10 and/or CCR3 such as plasma cells and also as a broad-spectrum antimicrobial protein secreted into low-salt body fluids., [RefSeq, PubMed]; Chemotactic activity for resting CD4, CD8 T-cells and eosinophils. Binds to CCR3 and CCR10 and induces calcium mobilization in a dose-dependent manner., [UniProtKB]; LncRNA H19 aggravates primary graft dysfunction after lung transplantation via KLF5-mediated activation of CCL28., [RefSeq, PubMed]; Mucosal CCL28 Chemokine Improves Protection against Genital Herpes through Mobilization of Antiviral Effector Memory CCR10+CD44+ CD62L-CD8+ T Cells and Memory CCR10+B220+CD27+ B Cells into the Infected Vaginal Mucosa., [RefSeq, PubMed]; Pericytes recruited by CCL28 promote vascular normalization after anti-angiogenesis therapy through RA/RXRA/ANGPT1 pathway in lung adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; This antimicrobial gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for resting CD4 or CD8 T cells and eosinophils. The product of this gene binds to chemokine receptors CCR3 and CCR10. This chemokine may play a role in the physiology of extracutaneous epithelial tissues, including diverse mucosal organs. Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Sep 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D7RIE7", "ec_number_list": "", "go_molecular_function": "GO:0008009 chemokine activity;GO:0045236 CXCR chemokine receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006935 chemotaxis;GO:0006954 inflammatory response;GO:0007584 response to nutrient;GO:0061844 antimicrobial humoral immune response mediated by antimicrobial peptide;GO:0071222 cellular response to lipopolysaccharide", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q9NRJ3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IUB9-1", "uniprot_id": "KR191_HUMAN", "mass": 9008.0, "length": 90, "protein_name": "Keratin-associated protein 19-1", "gene_name": "KRTAP19-1", "organism": "Human", "refseq_name": "keratin-associated protein 19-1", "refseq_ac": "NP_853638", "gene_names_uniprotkb": "KRTAP19-1; KAP19.1; KRTAP19.1", "gene_names_refseq": "KAP19.1; KRTAP19-1", "protein_names_uniprotkb": "Keratin-associated protein 19-1; High tyrosine-glycine keratin-associated protein 19.1", "protein_names_refseq": "high tyrosine-glycine keratin-associated protein 19.1; keratin-associated protein 19-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:337882); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 12, "publication_id_list": "12359730;15373777;16382671;1691188;1694855;1714783;17521629;23481192;2414304;25208914;38253038;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": 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": 12, "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": "A4QN27;Q3LI75", "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": "Q8IUB9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6GQQ9-1", "uniprot_id": "OTU7B_HUMAN", "mass": 92526.0, "length": 843, "protein_name": "OTU domain-containing protein 7B", "gene_name": "OTUD7B", "organism": "Human", "refseq_name": "OTU domain-containing protein 7B", "refseq_ac": "NP_064590", "gene_names_uniprotkb": "OTUD7B; ZA20D1", "gene_names_refseq": "CEZANNE; OTUD7B; ZA20D1", "protein_names_uniprotkb": "OTU domain-containing protein 7B; 3.4.19.12; Cellular zinc finger anti-NF-kappa-B protein; Cezanne; Zinc finger A20 domain-containing protein 1; Zinc finger protein Cezanne", "protein_names_refseq": "OTU domain containing 7B; OTU domain-containing protein 7B; cellular zinc finger anti-NF-kappa-B protein; cellular zinc finger anti-NF-kappaB Cezanne; zinc finger A20 domain-containing protein 1; zinc finger protein Cezanne; zinc finger, A20 domain containing 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:56957); (R-HSA-5357786); (R-HSA-5357905); (R-HSA-5357956); (R-HSA-5689896)", "pathway_count": 5, "publication_count": 140, "publication_id_list": "10385526;10521396;10837247;11098060;11181075;11237011;11427719;11463333;11577081;12167698;12682062;12709429;12721308;12887920;14661020;14716293;14748687;15024054;15258597;15334086;15870263;16260783;16282325;16603398;16682944;16829951;16829952;16953224;16964243;17314102;17702576;18178551;18212344;18220336;18669648;19278658;19289468;19383985;19413330;19416807;19464428;19818707;19910467;19996094;20005846;20068231;20185725;20219915;20304918;20385093;20553488;20622874;21097510;21235526;21408173;21888622;22124327;22179575;22179831;22297296;22435550;22848449;23186163;23301498;23313255;23746843;23827681;24098568;24246475;24323043;24610782;24726323;24726327;25418920;25565632;25904330;26154972;26280536;26344099;26811146;26900751;26903241;26992070;26997266;27307491;27458237;27545878;27552911;27591049;27600516;27732584;27862975;27920218;28489822;28506461;28832583;28904123;28920952;28920954;29242379;29351928;29393594;29557506;29642005;30146158;30361438;30420664;30429286;30988283;31154438;31366726;31511692;31844290;32157095;32265295;32320653;32357974;32387766;32938616;33469115;33592498;33912179;33968037;33981976;34162724;34357683;34363755;34876703;35051231;35580925;35941131;36010968;36241641;37429790;37516734;38088504;7531702;7667287;9049422;9065443", "class_list": "", "function": "Cleaves ubiquitin from proteins, [RefSeq, PubMed]; Negative regulator of the non-canonical NF-kappa-B pathway that acts by mediating deubiquitination of TRAF3, an inhibitor of the NF-kappa-B pathway, thereby acting as a negative regulator of B-cell responses (PubMed:18178551). In response to non-canonical NF-kappa-B stimuli, deubiquitinates 'Lys-48'-linked polyubiquitin chains of TRAF3, preventing TRAF3 proteolysis and over-activation of non-canonical NF-kappa-B (By similarity). Negatively regulates mucosal immunity against infections (By similarity). Deubiquitinates ZAP70, and thereby regulates T cell receptor (TCR) signaling that leads to the activation of NF-kappa-B (PubMed:26903241). Plays a role in T cell homeostasis and is required for normal T cell responses, including production of IFNG and IL2 (By similarity). Mediates deubiquitination of EGFR (PubMed:22179831). Has deubiquitinating activity toward 'Lys-11', 'Lys-48' and 'Lys-63'-linked polyubiquitin chains (PubMed:11463333, PubMed:20622874, PubMed:23827681, PubMed:27732584). Has a much higher catalytic rate with 'Lys-11'-linked polyubiquitin chains (in vitro); however the physiological significance of these data are unsure (PubMed:27732584). Hydrolyzes both linear and branched forms of polyubiquitin (PubMed:12682062). Acts as a regulator of mTORC1 and mTORC2 assembly by mediating 'Lys-63'-linked deubiquitination of MLST8, thereby promoting assembly of the mTORC2 complex, while inhibiting formation of the mTORC1 complex (PubMed:28489822)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; OTU deubiquitinase 7B facilitates the hyperthermia-induced inhibition of lung cancer progression through enhancing Smac-mediated mitochondrial dysfunction., [RefSeq, PubMed]; OTUD7B deubiquitinates and stabilizes YAP1 to upregulate NUAK2 expression, thus accelerating gastric cancer procession., [RefSeq, PubMed]; The deubiquitinating enzyme OTUD7b protects dendritic cells from TNF-induced apoptosis by stabilizing the E3 ligase TRAF2. 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": 6, "reported_mutagensis": 17, "reported_glycation": 0, "reported_snv": 20, "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": "B7Z643;D3DUZ8;Q5SZ60;Q8WWA7;Q9NQ53;Q9UFF4", "ec_number_list": "2.7.11.10;2.7.11.1;2.7.11.25;3.4.19.12;2.3.2.-;2.3.2.27;2.3.2.31", "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0008234 cysteine-type peptidase activity;GO:0070530 K63-linked polyubiquitin modification-dependent protein binding;GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0016579 protein deubiquitination;GO:0070536 protein K63-linked deubiquitination;GO:1900181 negative regulation of protein localization to nucleus;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 14.3, "record_id": "Q6GQQ9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96EH5-1", "uniprot_id": "RL39L_HUMAN", "mass": 6293.0, "length": 51, "protein_name": "Ribosomal protein eL39-like 2", "gene_name": "RPL39L", "organism": "Human", "refseq_name": "ribosomal protein eL39-like 2", "refseq_ac": "NP_443201", "gene_names_uniprotkb": "RPL39L; RPL39L1", "gene_names_refseq": "L39-2; RPL39L1; RPL39L", "protein_names_uniprotkb": "Ribosomal protein eL39-like 2; 60S ribosomal protein L39-2; 60S ribosomal protein L39-like; Large ribosomal subunit protein eL39-like", "protein_names_refseq": "60S ribosomal protein L39-2; 60S ribosomal protein L39-like; large ribosomal subunit protein eL39-like; ribosomal protein L39-like 1; ribosomal protein L39-like protein; ribosomal protein eL39-like 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:116832); (R-HSA-156827); (R-HSA-156902); (R-HSA-1799339); (R-HSA-192823); (R-HSA-2408557); (R-HSA-6791226); (R-HSA-72689); (R-HSA-72706); (R-HSA-72764); (R-HSA-9010553); (R-HSA-9633012); (R-HSA-975956); (R-HSA-975957); (R-HSA-9954709); (R-HSA-9954714); (R-HSA-9954716)", "pathway_count": 17, "publication_count": 207, "publication_id_list": "10358005;10659855;1095581;10970870;10982836;11018020;11018027;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11922599;11964406;12068309;12150911;12359333;12417715;12490704;12493757;12554878;12588972;12718880;12832468;12853463;1400365;14527413;14567916;14630918;14636577;14742663;14973490;15034551;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16989641;17053788;17142313;17189298;17267404;17352659;17353269;17363904;17412707;17726049;17803942;17893241;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18455985;18524595;18539146;1856230;1861871;18657639;18974281;19060897;19106111;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608919;19706539;19801658;19859661;19909264;20023408;20038530;20056613;2006156;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21419344;22072790;22190735;22195017;22645359;22916032;23085078;23217742;23234702;23269699;23439679;23482395;23685075;23746841;2388630;24424021;24452241;24550520;24815453;24998577;25132172;25242263;25525153;25576301;25578875;25969445;26154972;26237581;26992070;27526673;27600516;27920218;28063628;28065601;28132843;28218747;28228285;28685749;28834231;29242379;29393594;29413899;29437277;29493099;29632046;29632312;29632711;29786170;30244831;30293783;30315122;30379171;30804176;31011209;31844290;31998317;32099016;32157095;32579943;32897882;32983136;33091337;33392160;33406423;33633747;33717175;33909987;33968037;33981976;36302773;37676773;429297;592398;592399;641056;6568109;6901506;7990965;8336711;8407925;8890909;9211906;9431993;9482744;9631292;9637248;9712840", "class_list": "", "function": "High RPL39L expression is associated with drug-resistant lacrimal gland adenoid cystic carcinoma., [RefSeq, PubMed]; Locus, structure and expression of the gene and its relevance to the biological activities of the ribosome, [RefSeq, PubMed]; Male germ cell-specific component of the ribosome, which is required for the formation of sperm and male fertility. Replaces the RPL39 paralog in the ribosome of male germ cells. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. The male germ cell-specific ribosome displays a ribosomal polypeptide exit tunnel of distinct size and charge states compared with the classical ribosome. It is responsible for regulating the biosynthesis and folding of a subset of male germ-cell-specific proteins that are essential for the formation of sperm., [UniProtKB, UniProtKB]; Results show the RP paralog Rpl39l is highly expressed in Embryonic Stem Cells and its expression strongly correlates with hepatocellular carcinoma tumor (HCC) samples with high tumor grading and alpha-fetoprotein level giving it diagnostic potential., [RefSeq, PubMed]; The ribosomal protein L39-L gene may have effects on the drug resistance mechanism of lung cancer A549 cells., [RefSeq, PubMed]; This gene encodes a protein sharing high sequence similarity with ribosomal protein L39. Although the name of this gene has been referred to as 'ribosomal protein L39' in the public databases, its official name is 'ribosomal protein L39-like'. It is not currently known whether the encoded protein is a functional ribosomal protein or whether it has evolved a function that is independent of the ribosome. [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": 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": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q8IUD0", "ec_number_list": "", "go_molecular_function": "GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0022625 cytosolic large ribosomal subunit", "go_biological_process": "GO:0007283 spermatogenesis;GO:0002181 cytoplasmic translation", "synthesized_glycan_count": 0, "hit_score": 21.2, "record_id": "Q96EH5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7L945-1", "uniprot_id": "ZN627_HUMAN", "mass": 52853.0, "length": 461, "protein_name": "Zinc finger protein 627", "gene_name": "ZNF627", "organism": "Human", "refseq_name": "zinc finger protein 627 isoform 2", "refseq_ac": "NP_001277012", "gene_names_uniprotkb": "ZNF627", "gene_names_refseq": "ZNF627", "protein_names_uniprotkb": "Zinc finger protein 627", "protein_names_refseq": "zinc finger protein 627 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:199692); (R-HSA-212436)", "pathway_count": 2, "publication_count": 51, "publication_id_list": "10235266;10330177;11237011;11395415;12016960;14519192;15175151;15896744;16606702;16719718;17967605;2163759;22299025;23481700;25576301;26992070;27600516;27862975;28218747;28228285;28832583;28904123;29242379;29393594;29557506;30315122;30379171;30429286;30484775;30779550;31154438;31217245;31844290;31848261;32157095;32357974;32983136;33592498;33968037;35051231;35494241;35580925;36010968;36215666;36241641;36284347;37938771;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; 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": 1, "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": "O14846;Q4KMP9;Q6NT81;Q9BRG4", "ec_number_list": "", "go_molecular_function": "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_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": 5.4, "record_id": "Q7L945-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NV29-1", "uniprot_id": "TM100_HUMAN", "mass": 14386.0, "length": 134, "protein_name": "Transmembrane protein 100", "gene_name": "TMEM100", "organism": "Human", "refseq_name": "transmembrane protein 100", "refseq_ac": "NP_001093110", "gene_names_uniprotkb": "TMEM100", "gene_names_refseq": "TMEM100", "protein_names_uniprotkb": "Transmembrane protein 100", "protein_names_refseq": "transmembrane protein 100", "tax_id": 9606, "disease": "", "pathway": " (hsa:55273)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;19058789;22223368;22783020;23485812;30429286;31154438;31848261;34278505;34514518;34687431;36514220;37019973", "class_list": "", "function": "Functional expression of TRPA1 channel, TRPV1 channel and TMEM100 in human odontoblasts., [RefSeq, PubMed]; Histone deacetylase 6-mediated downregulation of TMEM100 expedites the development and progression of non-small cell lung cancer., [RefSeq, PubMed]; Loss of TMEM100 is associated with lung adenocarcinoma., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Plays a role during embryonic arterial endothelium differentiation and vascular morphogenesis through the ACVRL1 receptor-dependent signaling pathway upon stimulation by bone morphogenetic proteins, such as GDF2/BMP9 and BMP10. Involved in the regulation of nociception, acting as a modulator of the interaction between TRPA1 and TRPV1, two molecular sensors and mediators of pain signals in dorsal root ganglia (DRG) neurons. Mechanistically, it weakens their interaction, thereby releasing the inhibition of TRPA1 by TRPV1 and increasing the single-channel open probability of the TRPA1-TRPV1 complex., [UniProtKB, UniProtKB]; Role of TMEM100 in mechanically insensitive nociceptor un-silencing. Publication Status: Online-Only, [RefSeq, PubMed]; TMEM100 negatively regulated by microRNA106b facilitates cellular apoptosis by suppressing survivin expression in NSCLC., [RefSeq, PubMed]; Upregulation of DRG protein TMEM100 facilitates dry-skin-induced pruritus by enhancing TRPA1 channel 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "D3DTY7;I3L214;Q96FZ0", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0043204 perikaryon;GO:0048471 perinuclear region of cytoplasm;GO:0016020 membrane", "go_biological_process": "GO:0030154 cell differentiation;GO:0051930 regulation of sensory perception of pain;GO:0030509 BMP signaling pathway;GO:0045603 positive regulation of endothelial cell differentiation;GO:0071773 cellular response to BMP stimulus", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q9NV29-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95400-1", "uniprot_id": "CD2B2_HUMAN", "mass": 37646.0, "length": 341, "protein_name": "CD2 antigen cytoplasmic tail-binding protein 2", "gene_name": "CD2BP2", "organism": "Human", "refseq_name": "CD2 antigen cytoplasmic tail-binding protein 2", "refseq_ac": "NP_001230575", "gene_names_uniprotkb": "CD2BP2; KIAA1178", "gene_names_refseq": "CD2BP2; FWP010; LIN1; PPP1R59; Snu40; U5-52K", "protein_names_uniprotkb": "CD2 antigen cytoplasmic tail-binding protein 2; CD2 cytoplasmic domain-binding protein 2; CD2 tail-binding protein 2; U5 snRNP 52K protein; U5-52K", "protein_names_refseq": "CD2 antigen cytoplasmic tail-binding protein 2; CD2 cytoplasmic domain-binding protein 2; U5 snRNP 52K protein; protein phosphatase 1, regulatory subunit 59", "tax_id": 9606, "disease": "", "pathway": " (hsa:10421); (R-HSA-9918481)", "pathway_count": 2, "publication_count": 81, "publication_id_list": "10404223;11747608;12426371;14519844;14762106;15084397;15840814;16723661;17081983;17287340;17322306;17467737;17693683;17906334;17924679;18318008;18452278;18669648;18691976;18767875;19007248;19367720;19651622;19664995;20068231;21406692;21911577;23186163;24275569;24715725;24781215;26092250;26154972;26992070;27108190;27846572;28832583;28904123;29242379;29351928;29393594;29493099;29557506;29632711;29786170;29902443;30429286;30484775;30599162;30779550;31154438;31217245;31844290;31848261;31937595;31998317;32157095;32488085;32502341;32938616;32983136;33141586;33177556;33298915;33691108;33912179;33936100;33968037;33981976;34019948;34185709;35051231;35215846;35318648;35580925;36241641;37217939;37938771;40596516;40914422;9843987", "class_list": "", "function": "Involved in pre-mRNA splicing as component of the U5 snRNP complex that is involved in spliceosome assembly., [UniProtKB, PubMed]; This gene encodes a bi-functional protein. In the cytoplasm, the encoded protein binds the cytoplasmic tail of human surface antigen CD2 via its C-terminal GYF domain, and regulate CD2-triggered T lymphocyte activation. In the nucleus, this protein is a component of the U5 small nuclear ribonucleoprotein complex and is involved in RNA splicing. A pseudogene has been identified on chromosome 7. Alternative splicing results in multiple transcript variants but their biological validity has not been determined. [provided by RefSeq, Nov 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": 10, "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": "B2RDX2;Q9ULP2", "ec_number_list": "", "go_molecular_function": "GO:0043021 ribonucleoprotein complex binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016607 nuclear speck", "go_biological_process": "GO:0000244 spliceosomal tri-snRNP complex assembly;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "O95400-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95711-1", "uniprot_id": "LY86_HUMAN", "mass": 17906.0, "length": 162, "protein_name": "Lymphocyte antigen 86", "gene_name": "LY86", "organism": "Human", "refseq_name": "lymphocyte antigen 86 precursor", "refseq_ac": "NP_004262", "gene_names_uniprotkb": "LY86; MD1", "gene_names_refseq": "LY86; MD-1; MD1; MMD-1; dJ80N2.1", "protein_names_uniprotkb": "Lymphocyte antigen 86; Ly-86; Protein MD-1", "protein_names_refseq": "MD-1, RP105-associated; ly-86; lymphocyte antigen 86 precursor; protein MD-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9450); (R-HSA-166016)", "pathway_count": 2, "publication_count": 46, "publication_id_list": "10079183;10201950;11274165;12471095;14556004;15276183;15340161;15596121;16303959;16467847;16751103;16757566;18222170;18233961;18297073;21959264;22078883;22158869;24190977;2462607;24715725;2477488;25469497;25825441;26992070;27846572;27920218;28063628;28832583;28904123;29242379;29393594;29632046;29741879;32251450;32265295;32350084;32387766;33394553;33717175;34357683;3537192;37074911;37861500;9665271;9763566", "class_list": "", "function": "Genetic variability of immune-related lncRNAs: polymorphisms in LINC-PINT and LY86-AS1 are associated with pemphigus foliaceus susceptibility., [RefSeq, PubMed]; Higher expression of PLEK and LY86 as the potential biomarker of carotid atherosclerosis., [RefSeq, PubMed]; LY86 knockdown results in reduced monocyte migration towards the chemokine MCP-1, thereby implying that this reduced migration may underlie the increased susceptibility to candidemia. Publication Status: Online-Only, [RefSeq, PubMed]; May cooperate with CD180 and TLR4 to mediate the innate immune response to bacterial lipopolysaccharide (LPS) and cytokine production. Important for efficient CD180 cell surface expression (By similarity)., [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": 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": 5, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q9UQC4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0006954 inflammatory response;GO:0045087 innate immune response;GO:0031666 positive regulation of lipopolysaccharide-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "O95711-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75914-1", "uniprot_id": "PAK3_HUMAN", "mass": 62310.0, "length": 559, "protein_name": "Serine/threonine-protein kinase PAK 3", "gene_name": "PAK3", "organism": "Human", "refseq_name": "serine/threonine-protein kinase PAK 3 isoform a", "refseq_ac": "NP_001121638", "gene_names_uniprotkb": "PAK3; OPHN3", "gene_names_refseq": "ARA; MRX30; MRX47; OPHN3; PAK-3; PAK3beta; PAK3; XLID30; bPAK; beta-PAK", "protein_names_uniprotkb": "Serine/threonine-protein kinase PAK 3; 2.7.11.1; Beta-PAK; Oligophrenin-3; PAK-3; p21-activated kinase 3", "protein_names_refseq": "adriamycin resistance-associated; oligophrenin-3; p21 (CDKN1A)-activated kinase 3; p21 protein (Cdc42/Rac)-activated kinase 3; serine/threonine-protein kinase PAK 3 isoform a; serine/threonine-protein kinase PAK 3", "tax_id": 9606, "disease": "non-syndromic X-linked intellectual disability 30 (Disease Ontology:DOID:0112051)", "pathway": " (hsa:5063); (R-HSA-202433); (R-HSA-389359); (R-HSA-3928664); (R-HSA-399954); (R-HSA-428540); (R-HSA-5218920); (R-HSA-5621575); (R-HSA-5627123); (R-HSA-5687128); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013409); (R-HSA-9013420)", "pathway_count": 14, "publication_count": 442, "publication_id_list": "10047984;10075701;10092231;10232922;10464238;10470034;10490598;10508610;10523665;10523675;10526156;10559246;10559936;10579713;10639334;10671560;10699171;10699464;10721994;10724160;10747096;10748018;10805734;10811803;10849438;10873802;10896954;10946356;10958683;10967094;10975528;11007481;11017109;11048639;11058585;11085924;11149925;11276226;11278486;11306516;11373293;11390650;11396949;11431473;11432776;11459829;11557983;11584266;11584276;11604131;11606631;11607830;11672528;11696321;11704860;11707441;11741931;11752630;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11948177;11961559;11983165;12071859;12093360;12096337;12172552;12195014;12198493;12221096;12351724;12432077;12453877;12456660;12456725;12464619;12515809;12531887;12546821;12547822;12628924;12650940;12665586;12670394;12676796;12695502;12773384;12777533;12808096;12857875;12860998;12877655;12884430;12890786;12907671;12915405;12923183;14506234;14510693;14512443;14514689;14580336;1464587;14675773;14718541;15000491;15023524;15033976;15064355;15107133;15133129;15147912;15157669;15226418;15260990;15302923;15304341;15339924;15342493;15350535;15378014;15485661;15507211;15520807;15538386;15556869;15577943;15579468;15601624;15611138;15710388;15728722;15800193;15850391;15858067;15886116;15897194;16002401;16112081;16116428;16135789;16184169;16204230;16217026;16243036;16360641;16371649;16434485;16473593;16492808;16507994;16519628;16630611;16636067;16702231;16714282;16762923;16777452;16777849;16854367;16862148;16896804;16914516;16968698;16971392;16973613;17060906;17064668;17077126;17145773;17161475;17196961;17214551;17244649;17254968;17310244;17344846;17395884;17462920;17504809;17583407;17599059;17652306;17702745;17728103;17765681;17804252;17932950;17947239;17976533;18006505;18031682;18045877;18056264;18162290;18218625;18235225;18248330;18249095;18295596;18347018;18363964;18385332;18396277;18426980;18507705;18593949;18644862;18653540;18720373;18786931;18829550;18835169;18838382;18929667;19036346;19064640;19122653;19166925;19197368;19269969;19289088;19473979;19494238;19513348;19593530;19605563;19673492;19713215;19915143;19934221;20236090;20363321;20400958;20444238;20460433;20536836;20543837;20547754;20596523;20679435;20734105;20810653;20849292;21098037;21148482;21177870;21317288;21329875;21329882;21372320;21454492;21508312;21542010;21565175;21613211;21685891;21730051;21865595;21989057;22004470;22096251;22267219;22279049;22298643;22407364;22461490;22475431;22505454;22508986;22571869;22608513;22734669;22800433;22970203;22971344;23029280;23069990;23161543;23200924;23209303;23255595;23288169;23406282;23434736;23572525;23707487;23718289;23878308;23940355;24086303;24166499;24190977;24259668;24309468;24335996;24352656;24584464;24585635;24859002;24933155;24960694;24996924;25024229;25211221;25339975;25428919;25704760;25721503;25795300;25862245;25963737;26129894;26154972;26299518;26529257;26598554;26598620;26811146;26887924;26992070;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27798618;27806292;27846572;28028151;28114311;28196833;28825699;28860633;29089502;29358323;29382922;29557506;30061681;30315122;30779550;3079756;30833945;30853411;30858169;31092671;31154438;31530632;31844290;31848261;31871319;31998317;32203420;32302585;32350084;32357974;32387766;32488085;32737221;32938616;32983136;33968037;34381046;34509645;34550532;35051231;35580925;36284347;3839510;38785043;39137120;7479768;7512369;7517401;7559638;7565724;7673236;7721814;7737275;7753201;7799959;7835339;8021274;8107774;8537347;8543060;8643598;8645157;8649427;8662891;8670801;8756646;8769096;8798379;8798539;8805223;8810315;8816443;8824201;8939998;8990121;8994827;9013646;9032261;9099726;9113980;9115214;9268338;9305890;9405671;9438848;9438849;9490638;9497316;9535855;9582072;9628874;9659915;9660950;9670022;9683637;9694876;9705280;9731525;9747882;9792683;9822598;9822663;9829970;9843499;9846482;9846874;9988689", "class_list": "", "function": "Loss of Smad4 promotes aggressive lung cancer metastasis by de-repression of PAK3 via miRNA regulation. Publication Status: Online-Only, [RefSeq, PubMed]; PAK3 Exacerbates Cardiac Lipotoxicity via SREBP1c in Obesity Cardiomyopathy., [RefSeq, PubMed]; PAK3 codes for a splice variant that contains a 45-bp alternatively spliced exon. The exon encodes 15 aa that are inserted in the regulatory domain. PAK3b displays a high kinase activity in starved cells that is not further stimulated by active GTPases., [RefSeq, PubMed]; PAK3 is a key signature gene of the glioma proneural subtype and affects its proliferation, differentiation and growth., [RefSeq, PubMed]; Porocarcinomas with PAK1/2/3 fusions: a series of 12 cases., [RefSeq, PubMed]; Serine/threonine protein kinase that plays a role in a variety of different signaling pathways including cytoskeleton regulation, cell migration, or cell cycle regulation. Plays a role in dendrite spine morphogenesis as well as synapse formation and plasticity. Acts as a downstream effector of the small GTPases CDC42 and RAC1. Activation by the binding of active CDC42 and RAC1 results in a conformational change and a subsequent autophosphorylation on several serine and/or threonine residues. Phosphorylates MAPK4 and MAPK6 and activates the downstream target MAPKAPK5, a regulator of F-actin polymerization and cell migration. Additionally, phosphorylates TNNI3/troponin I to modulate calcium sensitivity and relaxation kinetics of thin myofilaments. May also be involved in early neuronal development. In hippocampal neurons, necessary for the formation of dendritic spines and excitatory synapses; this function is dependent on kinase activity and may be exerted by the regulation of actomyosin contractility through the phosphorylation of myosin II regulatory light chain (MLC) (By similarity)., [UniProtKB, UniProtKB, PubMed]; The protein encoded by this gene is a serine-threonine kinase and forms an activated complex with GTP-bound RAS-like (P21), CDC2 and RAC1. This protein may be necessary for dendritic development and for the rapid cytoskeletal reorganization in dendritic spines associated with synaptic plasticity. Defects in this gene are the cause of a non-syndromic form of X-linked intellectual disability. Alternatively spliced transcript variants encoding different isoforms 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": 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": 5, "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": "A8K389;B1GX77;B1GX78;B1GX79;Q5JWX1;Q5JWX2;Q7Z2D6;Q7Z2E4;Q7Z3Z8;Q8WWK5;Q8WX23;Q9P0J8", "ec_number_list": "2.7.11.1;2.3.2.26;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;3.1.4.4;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;3.6.5.2;1.6.3.-;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.7.10.1;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;1.16.1.-;2.7.11.38;2.7.11.34;3.4.19.12;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0017124 SH3 domain binding;GO:0046872 metal ion binding;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0014069 postsynaptic density", "go_biological_process": "GO:0050770 regulation of axonogenesis;GO:0007409 axonogenesis;GO:0016358 dendrite development;GO:0016477 cell migration;GO:0032956 regulation of actin cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 44.5, "record_id": "O75914-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P60321-1", "uniprot_id": "NANO2_HUMAN", "mass": 15132.0, "length": 138, "protein_name": "Nanos homolog 2", "gene_name": "NANOS2", "organism": "Human", "refseq_name": "nanos homolog 2", "refseq_ac": "NP_001025032", "gene_names_uniprotkb": "NANOS2; NOS2", "gene_names_refseq": "NANOS2; NOS-2; NOS2; ZC2HC12B", "protein_names_uniprotkb": "Nanos homolog 2; NOS-2", "protein_names_refseq": "nanos homolog 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:339345)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "14615895;19168545;21421998;27794480;35705038", "class_list": "", "function": "A cooperative mechanism of target RNA selection via germ-cell-specific RNA-binding proteins NANOS2 and DND1., [RefSeq, PubMed]; Data describe for the first time the expression pattern of the NANOS2 gene in human tissues and show that it is testis specific. We found that NANOS2 protein is present in prenatal germ cells and at later stages in spermatogenesis., [RefSeq, PubMed]; Plays a key role in the sexual differentiation of germ cells by promoting the male fate but suppressing the female fate. Represses the female fate pathways by suppressing meiosis, which in turn results in the promotion of the male fate. Maintains the suppression of meiosis by preventing STRA8 expression, which is required for premeiotic DNA replication, after CYP26B1 is decreased. Regulates the localization of the CCR4-NOT deadenylation complex to P-bodies and plays a role in recruiting the complex to trigger the degradation of mRNAs involved in meiosis. Required for the maintenance of the spermatogonial stem cell population. Not essential for the assembly of P-bodies but is required for the maintenance of their normal state (By similarity)., [UniProtKB]; The increased NO production with increased expression of iNOS and ncNOS may contribute to the pathological and physiological features of UVB-induced erythema and skin inflammation., [RefSeq, PubMed]; We conclude that heterogeneous population of the HEK293T cells might be easily shifted towards expression of the pluripotency markers by ectopic expression of the SON factors or by growth in serum depleted media., [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": "Q17R30;Q4G0P8", "ec_number_list": "", "go_molecular_function": "GO:0003729 mRNA binding;GO:0008047 enzyme activator activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0048471 perinuclear region of cytoplasm;GO:0000932 P-body", "go_biological_process": "GO:0007283 spermatogenesis;GO:0017148 negative regulation of translation;GO:0006402 mRNA catabolic process;GO:0048477 oogenesis;GO:0061157 mRNA destabilization", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "P60321-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N987-1", "uniprot_id": "NECA1_HUMAN", "mass": 40571.0, "length": 351, "protein_name": "N-terminal EF-hand calcium-binding protein 1", "gene_name": "NECAB1", "organism": "Human", "refseq_name": "N-terminal EF-hand calcium-binding protein 1", "refseq_ac": "NP_071746", "gene_names_uniprotkb": "NECAB1; EFCAB1; EFCBP1", "gene_names_refseq": "EFCAB1; EFCBP1; NECAB1; STIP-1", "protein_names_uniprotkb": "N-terminal EF-hand calcium-binding protein 1; EF-hand calcium-binding protein 1; Neuronal calcium-binding protein 1", "protein_names_refseq": "EF-hand calcium-binding protein 1; N-terminal EF-hand calcium-binding protein 1; neuronal calcium binding protein; neuronal calcium-binding protein 1; synaptotagmin interacting protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:64168)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "12044471;26843217;30429286;31844290;34087483;35580925", "class_list": "", "function": "Study suggests that the phenotypic segregation of Neuronal calcium-binding protein 1 and -2 (NECAB1 and -2) to respective excitatory and inhibitory spinal systems can underpin functional modalities in determining the fidelity of synaptic neurotransmission and neuronal responsiveness, and might bear translational relevance to humans. Erratum:[Brain Struct Funct. 2016 Sep;221(7):3843. doi: 10.1007/s00429-016-1236-7. PMID: 27206425], [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": 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": "Q6NUS7;Q96AZ7;Q9HBW8", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0042984 regulation of amyloid precursor protein biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8N987-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BT49-1", "uniprot_id": "THAP7_HUMAN", "mass": 34414.0, "length": 309, "protein_name": "THAP domain-containing protein 7", "gene_name": "THAP7", "organism": "Human", "refseq_name": "THAP domain-containing protein 7", "refseq_ac": "NP_001008695", "gene_names_uniprotkb": "THAP7", "gene_names_refseq": "THAP7", "protein_names_uniprotkb": "THAP domain-containing protein 7", "protein_names_refseq": "THAP domain-containing protein 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:80764)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "15561719;16195249;18691976;23186163;24275569;25418920;25576301;28218747;29242379;29393594;30429286;31905202;32938616", "class_list": "", "function": "Chromatin-associated, histone tail-binding protein that represses transcription via recruitment of HDAC3 and nuclear hormone receptor corepressors., [UniProtKB, PubMed]; Demonstration of the transcriptional regulatory properties of a human THAP domain protein, and a critical identification of a potential transducer of the repressive signal of hypoacetylated histone H4 in higher eukaryotes, [RefSeq, PubMed]; THAP7 may represent a novel class of transcription factor that uses TAF-Ibeta as a corepressor to maintain histones in a hypoacetylated, repressed state., [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": 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": "B2RD97;D3DX40", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0042826 histone deacetylase binding;GO:0140296 general transcription initiation factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;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:0006355 regulation of DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription;GO:0006325 chromatin organization", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q9BT49-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96RD9-1", "uniprot_id": "FCRL5_HUMAN", "mass": 106437.0, "length": 977, "protein_name": "Fc receptor-like protein 5", "gene_name": "FCRL5", "organism": "Human", "refseq_name": "Fc receptor-like protein 5 isoform 2 precursor", "refseq_ac": "NP_001182317", "gene_names_uniprotkb": "FCRL5; FCRH5; IRTA2; PRO820", "gene_names_refseq": "BXMAS1; CD307e; CD307; FCRH5; FCRL5; IRTA2; PRO820", "protein_names_uniprotkb": "Fc receptor-like protein 5; BXMAS1; Fc receptor homolog 5; FcR-like protein 5; FcRH5; FcRL5; Immune receptor translocation-associated protein 2", "protein_names_refseq": "Fc receptor-like protein 5 isoform 2 precursor; fc receptor homolog 5; fcR-like protein 5; immune receptor translocation-associated protein 2; immunoglobulin superfamily receptor translocation associated 2 (IRTA2)", "tax_id": 9606, "disease": "", "pathway": " (hsa:83416)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "11290337;11453668;11493702;11929751;12975309;16849395;16959974;23481700;24190977;24715725;25502872;26992070;28832583;28834231;29242379;29557506;29632711;29786170;30107486;30771554;31844290;32157095;32350084;32502341;32805738;32892204;32938616;33141586;33912179;33936100;34371177;34932366;34936684;35051231;35154160;35494241;35580925;37074911;39894887", "class_list": "", "function": "Characterization and comparison of the structure and B-cell expression pattern of the entire family of IRTA genes, which includes 5 members contiguously located on chromosome., [RefSeq, PubMed]; Fc receptor-like 4 and 5 define human atypical memory B cells., [RefSeq, PubMed]; Plays an important role in B-cell response to antigen that acts both as a negative or positive coreceptor. Inhibits B-cell receptor (BCR) signaling in the absence of CR2 stimulation but engagement with CR2 and the BCR lead to a superior calcium response compared to CR2 and BCR costimulation (PubMed:30107486). May be involved in B-cell development and differentiation in peripheral lymphoid organs and may be useful markers of B-cell stages. May have an immunoregulatory role in marginal zone B-cells. May play a role in fertilization (By similarity)., [UniProtKB, PubMed, UniProtKB]; SARS-CoV-2 spike-specific memory B cells express higher levels of T-bet and FcRL5 after non-severe COVID-19 as compared to severe disease. Publication Status: Online-Only, [RefSeq, PubMed]; The rs6427384 and rs6692977 Single Nucleotide Polymorphisms of the Fc Receptor-Like 5 (FCRL5) Gene and the Risk of Ankylosing Spondylitis: A Case Control Study in a Single Center in China. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the immunoglobulin receptor superfamily and the Fc-receptor like family. This gene and several other Fc receptor-like gene members are clustered on the long arm of chromosome 1. The encoded protein is a single-pass type I membrane protein and contains 8 immunoglobulin-like C2-type domains. This gene is implicated in B cell development and lymphomagenesis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Sep 2010]., [RefSeq]; This study identified novel Single nucleotide polymorphism in FCRL3 and FCRL5 significantly associated with the risk for asthma with comorbid allergic rhinitis in the Chinese population, [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": 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": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 40, "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": "A0N0M2;B7WNT9;B7WP94;Q495Q2;Q495Q4;Q5VYK9;Q6UY46", "ec_number_list": "", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0015026 coreceptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0043235 receptor complex;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0006955 immune response;GO:0007166 cell surface receptor signaling pathway;GO:0042113 B cell activation;GO:0007338 single fertilization", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q96RD9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O14879-1", "uniprot_id": "IFIT3_HUMAN", "mass": 55985.0, "length": 490, "protein_name": "Interferon-induced protein with tetratricopeptide repeats 3", "gene_name": "IFIT3", "organism": "Human", "refseq_name": "interferon-induced protein with tetratricopeptide repeats 3 isoform a", "refseq_ac": "NP_001026853", "gene_names_uniprotkb": "IFIT3; CIG-49; IFI60; IFIT4; ISG60", "gene_names_refseq": "CIG-49; GARG-49; IFI60; IFIT3; IFIT4; IRG2; ISG60; P60; RIG-G; cig41", "protein_names_uniprotkb": "Interferon-induced protein with tetratricopeptide repeats 3; CIG49; IFI-60K; IFIT-3; IFIT-4; ISG-60; Interferon-induced 60 kDa protein; Interferon-induced protein with tetratricopeptide repeats 4; P60; RIG-G; Retinoic acid-induced gene G protein", "protein_names_refseq": "CIG49; IFI-60K; IFIT-3; IFIT-4; ISG-60; interferon-induced 60 kDa protein; interferon-induced protein with tetratricopeptide repeats 3 isoform a; interferon-induced protein with tetratricopeptide repeats 4; retinoic acid-induced gene G protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:3437); (R-HSA-909733)", "pathway_count": 2, "publication_count": 161, "publication_id_list": "10395669;10542297;10982844;11092454;11237011;11337497;11377645;11404376;11585831;12029096;12766484;12842042;14769151;15047845;15312780;15449939;15778442;16009940;16171819;16964243;16987978;17050680;17251292;1730654;17351669;17969444;18035202;18575461;18669648;18691976;18706081;20068231;20130243;20363976;20643137;20686046;20950130;21190939;21642987;21813773;21993680;2211721;23061660;23121362;23481700;24275569;24366607;24417533;24715725;25371710;25418920;25505266;25576301;25880248;25892735;26154972;26375851;26992070;27452731;27543614;27846572;27862975;27920218;28228285;28446606;28467828;28514659;28832583;28834231;28904123;29242379;29331515;29351928;29508533;29557506;29769354;29786170;29789417;30315122;30379171;30429286;30484775;30485383;30573663;30779550;30833945;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32032529;32113509;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32511913;32574262;32661006;32758689;32862111;32938616;32983136;33117408;33141586;33189161;33193462;33298915;33396578;33592498;33717175;33912179;33936100;33968037;34087483;34171305;34185709;34211107;34357683;34509645;34561969;34932366;35051231;35318648;35580925;36010968;36284347;37496288;37846815;37938771;38200280;38273364;38963029;40914422;6162102;6548414;688397;7510216;7526154;7537377;7540766;8197134;8232552;8605876;8621447;8702790;9096384;9121453;9242679;9334213;9391139;9660177;9828129;9847332;9861020", "class_list": "", "function": "ETV7 promotes colorectal cancer progression through upregulation of IFIT3. Publication Status: Online-Only, [RefSeq, PubMed]; Expression of ISG60 is induced by TLR3 signaling in BEAS-2B bronchial epithelial cells: Possible involvement in CXCL10 expression., [RefSeq, PubMed]; IFIT3 accelerates the progression of head and neck squamous cell carcinoma by targeting PD-L1 to activate PI3K/AKT signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; IFN-induced antiviral protein which acts as an inhibitor of cellular as well as viral processes, cell migration, proliferation, signaling, and viral replication. Enhances MAVS-mediated host antiviral responses by serving as an adapter bridging TBK1 to MAVS which leads to the activation of TBK1 and phosphorylation of IRF3 and phosphorylated IRF3 translocates into nucleus to promote antiviral gene transcription. Exhibits an antiproliferative activity via the up-regulation of cell cycle negative regulators CDKN1A/p21 and CDKN1B/p27. Normally, CDKN1B/p27 turnover is regulated by COPS5, which binds CDKN1B/p27 in the nucleus and exports it to the cytoplasm for ubiquitin-dependent degradation. IFIT3 sequesters COPS5 in the cytoplasm, thereby increasing nuclear CDKN1B/p27 protein levels. Up-regulates CDKN1A/p21 by down-regulating MYC, a repressor of CDKN1A/p21. Can negatively regulate the apoptotic effects of IFIT2., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Lysyl oxidase-like 2 promotes stemness and enhances antitumor effects of gefitinib in head and neck cancer via IFIT1 and IFIT3., [RefSeq, PubMed]; NMI promotes tumor progression and gemcitabine resistance in pancreatic cancer via STAT3-IFIT3 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": 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": 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": "Q99634;Q9BSK7", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0008285 negative regulation of cell population proliferation;GO:0043066 negative regulation of apoptotic process;GO:0009615 response to virus;GO:0071345 cellular response to cytokine stimulus;GO:0140374 antiviral innate immune response", "synthesized_glycan_count": 0, "hit_score": 16.5, "record_id": "O14879-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95926-1", "uniprot_id": "SYF2_HUMAN", "mass": 28722.0, "length": 243, "protein_name": "Pre-mRNA-splicing factor SYF2", "gene_name": "SYF2", "organism": "Human", "refseq_name": "pre-mRNA-splicing factor SYF2 isoform 1", "refseq_ac": "NP_056299", "gene_names_uniprotkb": "SYF2; CBPIN; GCIPIP", "gene_names_refseq": "CBPIN; NTC31; P29; SYF2; fSAP29", "protein_names_uniprotkb": "Pre-mRNA-splicing factor SYF2; CCNDBP1-interactor; p29", "protein_names_refseq": "CCNDBP1 interactor; GCIP-interacting protein p29; SYF2 homolog, RNA splicing factor; functional spliceosome-associated protein 29; pre-mRNA-splicing factor SYF2 isoform 1; pre-mRNA-splicing factor SYF2", "tax_id": 9606, "disease": "encephalitis (Disease Ontology:DOID:9588)", "pathway": " (hsa:25949); (R-HSA-72163)", "pathway_count": 2, "publication_count": 143, "publication_id_list": "10882114;11014198;11101529;11118353;11230166;11233976;11991638;12176931;12411573;12414731;12477934;14625303;14713954;16314458;16809785;16951160;17095540;17332742;17606899;18322460;18593880;19103666;19165350;19536130;20423332;20980672;21536652;2176635;22110043;22365833;22959432;22961380;23222130;23236153;23345524;24196718;24304693;24448447;24714562;24715725;24737827;24914973;25418920;25505266;25555158;25576301;2558966;26154972;26375851;26385511;26420826;26754738;26969736;26992070;27377154;27459055;27683217;27846572;27862975;27920218;28062851;28076346;28218747;28228285;28502770;28781166;28832583;28834231;28904123;29242379;29301961;29360106;29361316;29393594;29437277;29493099;29557506;29632046;29632711;2963332;29786170;29789417;30315122;30315277;30410026;30429286;30484775;30705154;30728453;30765414;30779550;30975767;31154438;31217245;31409651;31530632;31799663;31844290;31848261;31943118;31998317;32157095;32179686;32265295;32329775;32357974;32387766;32494006;32897882;32938616;32983136;33243851;33446560;33592498;33691108;33717175;33912179;33968037;33981976;34171305;34185709;34301950;34822310;34932366;35051231;35318648;35385551;35561310;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:11991638, PubMed:28076346, PubMed:28502770)., [UniProtKB, PubMed, PubMed, PubMed]; LncRNA HOST2 enhances gefitinib-resistance in non-small cell lung cancer by down-regulating miRNA-621., [RefSeq, PubMed]; Novel function of p29 in the regulation of DNA replication checkpoint responses in Hela cells., [RefSeq, PubMed]; These data identify Aletrnative splicing programs controlled by ZRANB2 and SYF2 and converging on ECT2, that participate to breast cancer cell resistance to doxorubicin., [RefSeq, PubMed]; This gene encodes a nuclear protein that interacts with cyclin D-type binding-protein 1, which is thought to be a cell cycle regulator at the G1/S transition. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5TH73", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0071013 catalytic step 2 spliceosome;GO:0071014 post-mRNA release spliceosomal complex", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 14.4, "record_id": "O95926-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IUR0-1", "uniprot_id": "TPPC5_HUMAN", "mass": 20783.0, "length": 188, "protein_name": "Trafficking protein particle complex subunit 5", "gene_name": "TRAPPC5", "organism": "Human", "refseq_name": "trafficking protein particle complex subunit 5", "refseq_ac": "NP_001035926", "gene_names_uniprotkb": "TRAPPC5", "gene_names_refseq": "TRAPPC5; TRS31", "protein_names_uniprotkb": "Trafficking protein particle complex subunit 5", "protein_names_refseq": "trafficking protein particle complex 5; trafficking protein particle complex subunit 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:126003); (R-HSA-204005); (R-HSA-8876198)", "pathway_count": 3, "publication_count": 310, "publication_id_list": 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"class_list": "", "function": "May play a role in vesicular transport from endoplasmic reticulum to 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A8K7I6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:1990072 TRAPPIII protein complex;GO:1990070 TRAPPI protein complex", "go_biological_process": "GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0048208 COPII vesicle coating;GO:0006901 vesicle coating;GO:0099022 vesicle tethering;GO:0048193 Golgi vesicle transport", "synthesized_glycan_count": 0, "hit_score": 31.1, "record_id": "Q8IUR0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TAI1-1", "uniprot_id": "TYMOS_HUMAN", "mass": 13402.0, "length": 123, "protein_name": "TYMS opposite strand protein", "gene_name": "TYMSOS", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TYMSOS; C18orf56", "gene_names_refseq": "", "protein_names_uniprotkb": "TYMS opposite strand protein", "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": "A8K1S1", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q8TAI1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WVJ9-1", "uniprot_id": "TWST2_HUMAN", "mass": 18124.0, "length": 160, "protein_name": "Twist-related protein 2", "gene_name": "TWIST2", "organism": "Human", "refseq_name": "twist-related protein 2", "refseq_ac": "NP_001258822", "gene_names_uniprotkb": "TWIST2; BHLHA39; DERMO1", "gene_names_refseq": "AMS; BBRSAY; DERMO1; FFDD3; SETLSS; TWIST2; bHLHa39", "protein_names_uniprotkb": "Twist-related protein 2; Class A basic helix-loop-helix protein 39; Dermis-expressed protein 1; Dermo-1; bHLHa39", "protein_names_refseq": "class A basic helix-loop-helix protein 39; dermis-expressed protein 1; twist basic helix-loop-helix transcription factor 2; twist homolog 2; twist-related bHLH protein Dermo1; twist-related protein 2", "tax_id": 9606, "disease": "Barber-Say syndrome (Disease Ontology:DOID:0060549); ablepharon macrostomia syndrome (Disease Ontology:DOID:0060550); Saethre-Chotzen syndrome (Disease Ontology:DOID:14768); focal facial dermal dysplasia type III (MONDO:MONDO:0009203)", "pathway": " (hsa:117581); (R-HSA-8878166); (R-HSA-9764725)", "pathway_count": 3, "publication_count": 52, "publication_id_list": "10655587;11062344;11857736;11912130;12391164;12434152;12434156;12700765;15030764;15542832;16407259;17130829;17142326;17171635;18223689;19144722;20418909;20691403;20871592;21913213;22065775;22158034;22544321;23466526;24850862;25410422;25576301;25728771;26119818;26212009;29237092;29729076;30524438;30833945;30898548;31492838;32157095;33608512;33879188;33949284;34509645;35008676;35051231;35138000;35162374;35292107;35851744;36010968;36374263;40596516;9182764;9207800", "class_list": "", "function": "Binds to the E-box consensus sequence 5'-CANNTG-3' as a heterodimer and inhibits transcriptional activation by MYOD1, MYOG, MEF2A and MEF2C. Also represses expression of pro-inflammatory cytokines such as TNFA and IL1B. Involved in postnatal glycogen storage and energy metabolism (By similarity). Inhibits the premature or ectopic differentiation of preosteoblast cells during osteogenesis, possibly by changing the internal signal transduction response of osteoblasts to external growth factors., [UniProtKB, PubMed]; MIR205 host gene (MIR205HG) drives osteosarcoma metastasis via regulating the microRNA 2114-3p (miR-2114-3p)/twist family bHLH transcription factor 2 (TWIST2) axis., [RefSeq, PubMed]; Single Nucleotide Polymorphism of TWIST2 May Be a Modifier for the Association between High-Density Lipoprotein Cholesterol and Blood Lead (Pb) Level. Publication Status: Online-Only, [RefSeq, PubMed]; TWIST2 and the PPAR signaling pathway are important in the progression of nonalcoholic steatohepatitis. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a basic helix-loop-helix type transcription factor and shares similarity with Twist. This protein may inhibit osteoblast maturation and maintain cells in a preosteoblast phenotype during osteoblast development. This gene may be upregulated in certain cancers. Mutations in this gene cause focal facial dermal dysplasia 3, Setleis type. Two transcript variants encoding the same protein have been found. [provided by RefSeq, Apr 2014]., [RefSeq]; Twist2-expressing cells reside in human skeletal muscle and are responsive to aging and resistance exercise training., [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": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q3SYL6", "ec_number_list": "", "go_molecular_function": "GO:0046983 protein dimerization activity;GO:0000977 RNA polymerase II transcription 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:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation;GO:0030335 positive regulation of cell migration;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q8WVJ9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q01826-1", "uniprot_id": "SATB1_HUMAN", "mass": 85957.0, "length": 763, "protein_name": "DNA-binding protein SATB1", "gene_name": "SATB1", "organism": "Human", "refseq_name": "DNA-binding protein SATB1 isoform 1", "refseq_ac": "NP_001124482", "gene_names_uniprotkb": "SATB1", "gene_names_refseq": "DEFDA; DHDBV; KTZSL; SATB1", "protein_names_uniprotkb": "DNA-binding protein SATB1; Special AT-rich sequence-binding protein 1", "protein_names_refseq": "DNA-binding protein SATB1 isoform 1; DNA-binding protein SATB1; special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)", "tax_id": 9606, "disease": "SATB2-associated syndrome (Disease Ontology:DOID:0060428); Sjogren's syndrome (Disease Ontology:DOID:12894); developmental delay with dysmorphic facies and dental anomalies (MONDO:MONDO:0030988); Kohlschutter-Tonz syndrome-like (MONDO:MONDO:0030990)", "pathway": " (hsa:6304); (R-HSA-111465); (R-HSA-4551638); (R-HSA-9976102)", "pathway_count": 4, "publication_count": 112, "publication_id_list": "10200466;10453075;10490026;10595394;10800076;11106668;11237011;11278797;11313965;11463840;11741893;11960997;12032081;12036295;12107159;12374985;12668660;12692553;14578449;14605447;14701874;1505028;15199155;15561718;15592428;15618465;15713622;15851481;15970696;16079286;16123041;16371359;16377216;16630892;16983089;17018294;17173041;17297457;17376900;17512569;17652321;18187506;18337816;18408014;18628979;18691969;19103759;19247486;19332023;19430959;20098713;20351170;20417598;20694677;22402492;22493095;23750026;24068740;24369422;24556848;24715725;24782567;25391492;25548167;25645385;25704882;25810538;26811146;26992070;27068747;29351928;29437277;29493099;29557506;30429286;31844290;32157095;32387766;32488085;32897882;32938616;32983136;33141586;33298915;33392160;33513338;33592498;33968037;34171305;34185709;34405274;34509645;35051231;35132862;35318648;35580925;35705054;36010968;36241641;36284347;37985573;38150791;38385627;38755179;39195213;8976194;9111059;9252332;9325343;9431985;9548713;9973322", "class_list": "", "function": "Crucial silencing factor contributing to the initiation of X inactivation mediated by Xist RNA that occurs during embryogenesis and in lymphoma (By similarity). Binds to DNA at special AT-rich sequences, the consensus SATB1-binding sequence (CSBS), at nuclear matrix- or scaffold-associated regions. Thought to recognize the sugar-phosphate structure of double-stranded DNA. Transcriptional repressor controlling nuclear and viral gene expression in a phosphorylated and acetylated status-dependent manner, by binding to matrix attachment regions (MARs) of DNA and inducing a local chromatin-loop remodeling. Acts as a docking site for several chromatin remodeling enzymes (e.g. PML at the MHC-I locus) and also by recruiting corepressors (HDACs) or coactivators (HATs) directly to promoters and enhancers. Modulates genes that are essential in the maturation of the immune T-cell CD8SP from thymocytes. Required for the switching of fetal globin species, and beta- and gamma-globin genes regulation during erythroid differentiation. Plays a role in chromatin organization and nuclear architecture during apoptosis. Interacts with the unique region (UR) of cytomegalovirus (CMV). Alu-like motifs and SATB1-binding sites provide a unique chromatin context which seems preferentially targeted by the HIV-1 integration machinery. Moreover, HIV-1 Tat may overcome SATB1-mediated repression of IL2 and IL2RA (interleukin) in T-cells by binding to the same domain as HDAC1. Delineates specific epigenetic modifications at target gene loci, directly up-regulating metastasis-associated genes while down-regulating tumor-suppressor genes. Reprograms chromatin organization and the transcription profiles of breast tumors to promote growth and metastasis. Promotes neuronal differentiation of neural stem/progenitor cells in the adult subventricular zone, possibly by positively regulating the expression of NEUROD1 (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Long Non-Coding RNA ANRIL Regulates Inflammatory Factor Expression in Ulcerative Colitis Via the miR-191-5p/SATB1 Axis., [RefSeq, PubMed]; Long non-coding RNA LINC00491 accelerates head and neck squamous cell carcinoma progression through regulating miR-508-3p/SATB1 axis and activating Wnt signaling pathway., [RefSeq, PubMed]; SATB1 and p16 Expression and Prognostic Value in Croatian Hodgkin Lymphoma Patients: A Unicentric Study. Publication Status: Online-Only, [RefSeq, PubMed]; SATB1 mediated tumor colonization and beta-catenin nuclear localization are associated with colorectal cancer progression., [RefSeq, PubMed]; The miR-641-STIM1 and SATB1 axes play important roles in the regulation of the Th17/Treg balance in ITP. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a matrix protein which binds nuclear matrix and scaffold-associating DNAs through a unique nuclear architecture. The protein recruits chromatin-remodeling factors in order to regulate chromatin structure and gene expression. [provided by RefSeq, Apr 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": 3, "reported_mutagensis": 29, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 4, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B3KXF1;C9JTR6;Q59EQ0", "ec_number_list": "", "go_molecular_function": "GO:0003690 double-stranded DNA 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: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:0016604 nuclear body;GO:0016363 nuclear matrix;GO:0016605 PML body", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006325 chromatin organization", "synthesized_glycan_count": 0, "hit_score": 11.7, "record_id": "Q01826-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UHR5-1", "uniprot_id": "S30BP_HUMAN", "mass": 33870.0, "length": 308, "protein_name": "SAP30-binding protein", "gene_name": "SAP30BP", "organism": "Human", "refseq_name": "SAP30-binding protein isoform 3", "refseq_ac": "NP_001288768", "gene_names_uniprotkb": "SAP30BP; HCNGP; HTRG; HTRP", "gene_names_refseq": "HCNGP; HTRG; HTRP; SAP30BP", "protein_names_uniprotkb": "SAP30-binding protein; Transcriptional regulator protein HCNGP", "protein_names_refseq": "HSV-1 binding; SAP30-binding protein isoform 3; transcriptional regulator protein HCNGP", "tax_id": 9606, "disease": "", "pathway": " (hsa:29115); (R-HSA-427413)", "pathway_count": 2, "publication_count": 100, "publication_id_list": "10471499;10931946;11237011;14610093;15496587;17355984;18212344;18452278;18669648;18767875;19415658;19664994;19690332;19838300;20068231;20532202;21221920;21406692;22661428;23186163;23301498;25218447;25576301;25645385;25772364;25916849;26992070;27114449;27600516;27655845;27920218;28510447;28649982;28657654;28832583;28904123;29237092;29242379;29351928;29493099;29508533;29557506;29632711;30059200;30192525;30379171;30524438;30620550;30779550;31373491;31492838;31844290;32119511;32157095;32357974;32387766;32574038;32897882;32938616;32938750;32983136;33214551;33298915;33592498;33912179;33968037;33981976;34019948;34087483;34171305;34509645;34725712;34846842;35051231;35132862;35138101;35254053;35513511;35705054;36010968;36240223;36241641;36284347;36833294;37217939;37340703;37541260;38059508;38065098;38665916;38838015;39302247;39531497;39534244;40136647;40307207;40596516;40914422;41350704;7597036", "class_list": "", "function": "(Microbial infection) Involved in transcriptional repression of HHV-1 genes TK and gC., [UniProtKB, PubMed]; Association between the rs820218 Variant within the SAP30BP Gene and Rotator Cuff Rupture in an Amazonian Population. Publication Status: Online-Only, [RefSeq, PubMed]; HTRP is involved in cellular co-repressors, [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in transcriptional repression by promoting histone deacetylase activity, leading to deacetylation of histone H3 (PubMed:21221920). Acts as a regulator of pre-mRNA splicing by facilitating assembly of the cyclin-L-CDK11 cyclin-dependent protein kinase complex, thereby promoting phosphorylation of SF3B1 (PubMed:38059508). May be involved in the regulation of beta-2-microglobulin genes (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; SAP30BP interacts with RBM17/SPF45 to promote splicing in a subset of human short introns., [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": 24, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 24, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 24, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 24, "binding_glycan_count": 0, "secondary_ac_list": "B3KML7;Q8N1R5;Q8TDR8;Q96D27", "ec_number_list": "", "go_molecular_function": "GO:0016538 cyclin-dependent protein serine/threonine kinase regulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006397 mRNA processing;GO:0006355 regulation of DNA-templated transcription;GO:0009615 response to virus;GO:0008380 RNA splicing", "synthesized_glycan_count": 0, "hit_score": 12.7, "record_id": "Q9UHR5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UBC2-1", "uniprot_id": "EP15R_HUMAN", "mass": 94255.0, "length": 864, "protein_name": "Epidermal growth factor receptor substrate 15-like 1", "gene_name": "EPS15L1", "organism": "Human", "refseq_name": "epidermal growth factor receptor substrate 15-like 1 isoform 1", "refseq_ac": "NP_001245303", "gene_names_uniprotkb": "EPS15L1; EPS15R", "gene_names_refseq": "EPS15L1; EPS15R", "protein_names_uniprotkb": "Epidermal growth factor receptor substrate 15-like 1; Eps15-related protein; Eps15R", "protein_names_refseq": "epidermal growth factor receptor substrate 15-like 1 isoform 1; epidermal growth factor receptor substrate EPS15R; eps15-related protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:58513); (R-HSA-182971); (R-HSA-8856825); (R-HSA-8856828)", "pathway_count": 4, "publication_count": 307, "publication_id_list": "10097102;10393179;10436022;10514377;10535736;10542231;10559856;10559861;10559924;10567358;10613896;10625686;10652316;10766823;10769163;10953014;10983987;11071885;11076969;11082044;11231140;11237011;11239472;11247302;11454741;11470803;11516654;11517213;11532990;11577110;11588219;11823423;11877457;11877461;11889126;11894095;11919637;11927540;11988742;12057195;12072436;12086608;12213833;12218189;12221107;12234920;12234931;12429842;12447393;12451172;12464600;12593795;12593796;12717448;12847086;12944396;12952949;12958364;1317852;14505571;14555962;14581451;14617351;14622578;14622579;14662753;14726597;14985334;15021893;15117950;15134832;15144186;15252009;15260957;15318165;15339664;1535555;15465819;15473838;15475003;15502812;15502813;15649145;15671180;15701692;15703209;15728179;15802264;15895077;15916959;15962011;16103228;16159959;16215232;16326391;16407834;16410077;16459302;16460808;16516836;16707488;16723738;16798879;16880396;16903783;16964243;17018281;17035995;17081983;17158794;17267500;17322306;17360967;17456551;17494869;17512409;17522231;17540576;17609109;17681954;17713526;17762867;17765681;17924679;17978091;18032517;18093523;18166656;18199683;18388313;18452278;1847920;18491316;18669648;18767875;18775314;18790740;18819912;18981233;19054389;19092055;19140243;19262564;19287005;19296720;19413330;19415658;19458185;19536138;19575674;19603039;19651622;19664994;19664995;1968060;19690332;19696796;19696798;19713939;19732400;19776351;19809571;19814798;19853559;20033059;20058876;20059951;20068231;20166139;20211604;20231386;20351096;20428113;20448150;20826345;20946875;21102408;2115402;21187331;21278753;21316588;21376233;21406692;21445324;21482805;21499258;21613550;21779028;21841790;21883765;21927000;21927001;21962517;21995445;22099461;22118466;22233676;22357968;22484487;22505844;2257624;22648170;22815487;22863004;22942912;23186163;23297414;23481700;23536704;23823722;23861397;23891661;24130457;24186068;24275569;24366607;24384571;24581490;24680432;24714562;24715725;24746795;24789820;24966051;25107275;25263444;25303366;25341920;25576301;25645385;25880248;25892735;26042225;26154972;26403691;26829388;26992070;27846572;27862975;28218747;28904123;2890644;29437277;29557506;30315122;30429286;30779550;31154438;31217245;31222486;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33592498;33691108;33968037;33981976;34019948;34087483;34171305;3417785;34357683;34509645;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;41350704;6146630;7541030;7542744;7569928;7657591;7822302;7877694;8524399;8552632;8553074;8621719;8837779;9092476;9100026;9169477;9303539;9407958;9427626;9428629;9635431;9723620;9736607;9812899;9853615", "class_list": "", "function": "Seems to be a constitutive component of clathrin-coated pits that is required for receptor-mediated endocytosis. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR); internalization of ITGB1 as DAB2-dependent cargo but not TFR seems to require association with DAB2., [UniProtKB, PubMed, PubMed, 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": 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": 33, "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": "A2RRF3;A5PL29;B4DKA3", "ec_number_list": "", "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0005509 calcium ion binding;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006897 endocytosis;GO:0016197 endosomal transport;GO:0048488 synaptic vesicle endocytosis", "synthesized_glycan_count": 0, "hit_score": 31.0, "record_id": "Q9UBC2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z7A1-1", "uniprot_id": "CNTRL_HUMAN", "mass": 268886.0, "length": 2325, "protein_name": "Centriolin", "gene_name": "CNTRL", "organism": "Human", "refseq_name": "centriolin isoform 2", "refseq_ac": "NP_001317691", "gene_names_uniprotkb": "CNTRL; CEP110; CEP1", "gene_names_refseq": "CEP110; CEP1; CNTRL; FAN; bA165P4.1", "protein_names_uniprotkb": "Centriolin; Centrosomal protein 1; Centrosomal protein of 110 kDa; Cep110", "protein_names_refseq": "110 kDa centrosomal protein; bA165P4.1 (ortholog of mouse Ma2a8); bA165P4.2 (centrosomal protein 1); centriole associated protein; centriolin isoform 2; centrosomal protein 110kDa; centrosomal protein of 110 kDa", "tax_id": 9606, "disease": "nephronophthisis (Disease Ontology:DOID:12712)", "pathway": " (hsa:11064); (R-HSA-2565942); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-5620912); (R-HSA-8854518)", "pathway_count": 8, "publication_count": 138, "publication_id_list": "10688839;11076968;11237011;11956313;11956314;12207013;12221128;12364337;12732615;12852856;13678582;14580337;14654843;15498487;15705883;16112646;16213214;16357211;16462731;16890155;17081983;17140400;17547437;17574030;17646400;17719545;17924679;18037885;18378770;18477460;18521620;18566290;18615013;18694559;18801063;19004860;19081074;19664994;19940019;20068231;20230748;20308558;20399632;20558667;21273506;21347367;21422230;21548880;21565611;21620453;21725307;21792235;22094468;22179047;22365832;22433857;22641346;22645359;22653444;23141531;23141541;23186163;23253480;23301498;23348840;23400999;23481700;23530209;23747070;23769972;23777766;23789104;23921553;24053599;24089205;24231678;24366607;24469809;24714562;24982133;25047611;25313408;25418920;25532896;25576301;25880248;26992070;27846572;27920218;28063628;28218747;28228285;28514659;28832583;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;30315122;30429286;31092671;31250523;31844290;32157095;32265295;32357974;32387766;32502341;32897882;32938616;32983136;33298915;33402344;33592498;33633747;33691108;33912179;33936100;33968037;34509645;34561969;34932366;35051231;35494241;35561310;35580925;36010968;36241641;36284347;37217939;7769006;7790358;8838651", "class_list": "", "function": "CNTRL and FGFR1 have roles in myeloid and lymphoid malignancies in both human and mouse models, [RefSeq, PubMed]; In this study, we present two new cases of CNTRL-FGFR1 fusion, [RefSeq, PubMed]; Involved in cell cycle progression and cytokinesis. During the late steps of cytokinesis, anchors exocyst and SNARE complexes at the midbody, thereby allowing secretory vesicle-mediated abscission., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a centrosomal protein required for the centrosome to function as a microtubule organizing center. The gene product is also associated with centrosome maturation. One version of stem cell myeloproliferative disorder is the result of a reciprocal translocation between chromosomes 8 and 9, with the breakpoint associated with fibroblast growth factor receptor 1 and centrosomal protein 1. [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": 0, "reported_glycation": 0, "reported_snv": 10, "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": "A2A2Y1;B2RP67;Q3MN79;Q5FWF8;Q5JVD0;Q6MZR3;Q6PKC1;Q8TEP3;Q9Y489", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0090619 meiotic spindle pole;GO:0005813 centrosome;GO:0005829 cytosol;GO:0016020 membrane;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0051301 cell division", "synthesized_glycan_count": 0, "hit_score": 14.1, "record_id": "Q7Z7A1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N129-1", "uniprot_id": "CNPY4_HUMAN", "mass": 28310.0, "length": 248, "protein_name": "Protein canopy homolog 4", "gene_name": "CNPY4", "organism": "Human", "refseq_name": "protein canopy homolog 4 precursor", "refseq_ac": "NP_689968", "gene_names_uniprotkb": "CNPY4; PRO4354; PSEC0237", "gene_names_refseq": "CNPY4; PRAT4B", "protein_names_uniprotkb": "Protein canopy homolog 4", "protein_names_refseq": "PRotein Associated with Tlr4; canopy 4 homolog; protein canopy homolog 4 precursor; protein canopy homolog 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:245812)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "11237011;12975309;16303743;16338228;19413330;20068231;22447933;25576301;26992070;27600516;27846572;28834231;29557506;30429286;31844290;31998317;32350084;32488085;32502341;33592498;33968037;34171305;35051231;35251023", "class_list": "", "function": "A PRotein Associated with Tlr4 (PRAT4B), regulates cell surface expression of TLR4. PRAT4B has a signal peptide followed by a mature peptide. PRAT4B is associated with the hypoglycosylated, immature form of TLR4 but not with MD-2 or TLR2., [RefSeq, PubMed]; A mechanism for the differential trafficking of TLR1 I602S variants, and highlight the distinct roles for PRAT4A and PRAT4B in the regulation of TLR1 surface expression., [RefSeq, PubMed]; Plays a role in the regulation of the cell surface expression of TLR4., [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": 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": "Q8WUN9", "ec_number_list": "", "go_molecular_function": "GO:0005102 signaling receptor binding", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:1903078 positive regulation of protein localization to plasma membrane", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q8N129-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75400-1", "uniprot_id": "PR40A_HUMAN", "mass": 108805.0, "length": 957, "protein_name": "Pre-mRNA-processing factor 40 homolog A", "gene_name": "PRPF40A", "organism": "Human", "refseq_name": "pre-mRNA-processing factor 40 homolog A isoform 1", "refseq_ac": "NP_060362", "gene_names_uniprotkb": "PRPF40A; FBP11; FLAF1; FNBP3; HIP10; HSPC225; HYPA", "gene_names_refseq": "FBP-11; FBP11; FLAF1; FNBP3; HIP-10; HIP10; HYPA; NY-REN-6; PRPF40A; Prp40", "protein_names_uniprotkb": "Pre-mRNA-processing factor 40 homolog A; Fas ligand-associated factor 1; Formin-binding protein 11; Formin-binding protein 3; HIP-10; Huntingtin yeast partner A; Huntingtin-interacting protein 10; Huntingtin-interacting protein A; Renal carcinoma antigen NY-REN-6", "protein_names_refseq": "Fas-ligand associated factor 1; Huntingtin-interacting protein A; NY-REN-6 antigen; PRP40 pre-mRNA processing factor 40 homolog A; fas ligand-associated factor 1; formin binding protein 3; formin-binding protein 11; huntingtin yeast partner A; huntingtin-interacting protein 10; pre-mRNA processing factor 40 homolog A; pre-mRNA-processing factor 40 homolog A isoform 1; renal carcinoma antigen NY-REN-6", "tax_id": 9606, "disease": "", "pathway": " (hsa:55660); (R-HSA-72163); (R-HSA-9770562)", "pathway_count": 3, "publication_count": 212, "publication_id_list": "10508479;10669729;10882114;11014198;11060040;11101529;11233976;11237011;11991638;12176931;12381297;12411573;12414731;12477934;14625303;14713954;14749727;15037765;15565158;16314458;16391387;16809785;17081983;17095540;17128255;17332742;17606899;18220336;18288197;18322460;18593880;18669648;19103666;19165350;19217410;19536130;19608861;20068231;20423332;20695905;20980672;21295486;21406692;21536652;2176635;21834987;22110043;22121020;22365833;22544926;22813749;22959432;22961380;23186163;23222130;23236153;23301498;23345524;23874216;24029068;24076191;24129315;24149845;24196718;24275569;24304693;24448447;24714562;24715725;24737827;24914973;25218447;25301780;25301781;25555158;25576301;2558966;25645385;25802875;25810538;25880248;25892735;26154972;26375851;26385511;26420826;26728094;26969736;26992070;27377154;27397612;27459055;27600516;27655845;27683217;27846572;27862975;27920218;28062851;28063628;28076346;28096519;28228285;28502770;28510447;28781166;28832583;28834231;28904123;28911096;29186539;29242379;29274231;29301961;29351928;29360106;29361316;29393594;29493099;29508533;29557506;29632046;29632711;2963332;29769354;29786170;29789417;30139799;30257008;30315122;30315277;30397120;30484775;30524438;30705154;30728453;30765414;30779550;30975767;31217245;31409651;31844290;32119511;32157095;32179686;32265295;32329775;32350084;32357974;32387766;32488085;32494006;32502341;32522876;32816001;32897882;32938616;32983136;33123756;33141586;33214551;33243851;33392160;33446560;33465208;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34185709;34229054;34301950;34509645;34561969;34725712;34822310;34932366;35051231;35177536;35318648;35385551;35580925;36010968;36241641;36284347;36581221;37217939;3757028;37938771;38665916;38719828;40596516;40914422;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9659921;9671485;9700202;9701291;9731529", "class_list": "", "function": "Binds to WASL/N-WASP and suppresses its translocation from the nucleus to the cytoplasm, thereby inhibiting its cytoplasmic function. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape and migration. May play a role in cytokinesis. May be involved in pre-mRNA splicing., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed]; Data describe the structure of an FF domain from HYPA/FBP11, which differs from those of other phosphopeptide-binding domains and represents a novel phosphopeptide-binding fold., [RefSeq, PubMed]; Intramolecular autoinhibition regulates the selectivity of PRPF40A tandem WW domains for proline-rich motifs. 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": 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": 4, "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": "O43856;O75404;Q8TBQ1;Q9H782;Q9NWU9;Q9P0Q2;Q9Y5A8", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005685 U1 snRNP;GO:0005654 nucleoplasm;GO:0016020 membrane;GO:0016607 nuclear speck;GO:0016363 nuclear matrix", "go_biological_process": "GO:0051301 cell division;GO:0000398 mRNA splicing, via spliceosome;GO:0045292 mRNA cis splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 21.7, "record_id": "O75400-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WUQ7-1", "uniprot_id": "CATIN_HUMAN", "mass": 88702.0, "length": 758, "protein_name": "Splicing factor Cactin", "gene_name": "CACTIN", "organism": "Human", "refseq_name": "splicing factor Cactin", "refseq_ac": "NP_001074012", "gene_names_uniprotkb": "CACTIN; C19orf29", "gene_names_refseq": "C19orf29; CACTIN; NY-REN-24; fSAPc", "protein_names_uniprotkb": "Splicing factor Cactin; Renal carcinoma antigen NY-REN-24", "protein_names_refseq": "NY REN 24 antigen; functional spliceosome-associated protein c; renal carcinoma antigen NY-REN-24; splicing factor Cactin", "tax_id": 9606, "disease": "", "pathway": " (hsa:58509); (R-HSA-72163)", "pathway_count": 2, "publication_count": 117, "publication_id_list": "10508479;10882114;11014198;11101529;11233976;11237011;11991638;12176931;12411573;12414731;12477934;14625303;14713954;16314458;16809785;17095540;17332742;17606899;18322460;18593880;19103666;19165350;19536130;20068231;20423332;20829348;20980672;21536652;2176635;21872626;21993680;22110043;22365833;22959432;22961380;23186163;23222130;23236153;23345524;24196718;24275569;24304693;24448447;24715725;24737827;24914973;25555158;25576301;2558966;26033110;26363554;26385511;26420826;26969736;26992070;27377154;27459055;27600516;27683217;27846572;28062851;28076346;28502770;28781166;28832583;28904123;29242379;29301961;29360106;29361316;29508533;29557506;29632711;2963332;30315122;30315277;30429286;30705154;30728453;30765414;30975767;31217245;31409651;31844290;31998317;32157095;32179686;32329775;32387766;32494006;32502341;32938616;33243851;33446560;33592498;33717175;33912179;34185709;34301950;34365507;34561969;34822310;35154160;35385551;36284347;37217939;3757028;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "Cellular complexes comprising cactin, DHX8 and SRRM2 sustain precise chromosome segregation, genome stability and cell proliferation by allowing faithful splicing of specific pre-mRNAs., [RefSeq, PubMed]; Plays a role in pre-mRNA splicing by facilitating excision of a subset of introns (PubMed:28062851). Required for the splicing of CDCA5/Sororin, a regulator of sister chromatid cohesion (PubMed:28062851). Involved in the regulation of innate immune response (PubMed:20829348). Acts as a negative regulator of Toll-like receptor, interferon-regulatory factor (IRF) and canonical NF-kappa-B signaling pathways (PubMed:20829348, PubMed:26363554). Contributes to the regulation of transcriptional activation of NF-kappa-B target genes in response to endogenous pro-inflammatory stimuli (PubMed:20829348, PubMed:26363554)., [UniProtKB, PubMed, PubMed, PubMed]; Results indicate that PKC-mediated cortactin phosphorylation might be implicated in the maintenance of growth cone, [RefSeq, PubMed]; TRIM39 negatively regulates the NFkappaB signaling pathway possibly via stabilization of cactin., [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": 8, "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": "A6NNA9;A9UL12;O75229;Q7LE08;Q9BTA6;Q9Y5A4", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016607 nuclear speck", "go_biological_process": "GO:0045087 innate immune response;GO:0001933 negative regulation of protein phosphorylation;GO:0032720 negative regulation of tumor necrosis factor production;GO:0071222 cellular response to lipopolysaccharide;GO:0043124 negative regulation of canonical NF-kappaB signal transduction", "synthesized_glycan_count": 0, "hit_score": 12.0, "record_id": "Q8WUQ7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P12110-1", "uniprot_id": "CO6A2_HUMAN", "mass": 108579.0, "length": 1019, "protein_name": "Collagen alpha-2(VI) chain", "gene_name": "COL6A2", "organism": "Human", "refseq_name": "collagen alpha-2(VI) chain isoform 2C2 precursor", "refseq_ac": "NP_001840", "gene_names_uniprotkb": "COL6A2", "gene_names_refseq": "BTHLM1B; BTHLM1; COL6A2; PP3610; UCMD1B; UCMD1", "protein_names_uniprotkb": "Collagen alpha-2(VI) chain", "protein_names_refseq": "collagen VI, alpha-2 polypeptide; collagen alpha-2(VI) chain isoform 2C2 precursor; collagen alpha-2(VI) chain; collagen, type VI, alpha 2; epididymis secretory sperm binding protein; human mRNA for collagen VI alpha-2 C-terminal globular domain", "tax_id": 9606, "disease": "Ullrich congenital muscular dystrophy 1B (Disease Ontology:DOID:0060942); Bethlem myopathy 1A (Disease Ontology:DOID:0061198); Bethlem myopathy 1B (Disease Ontology:DOID:0061199); myocardial infarction (Disease Ontology:DOID:5844); myosclerosis (MONDO:MONDO:0009714)", "pathway": " (hsa:1292); (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": 293, "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;1556127;15563506;15615512;15689448;15713743;15751060;15767546;1577494;15837520;1588291;15899827;15950618;16002701;16051604;16239428;16267048;16293224;16331269;1639841;16436588;16474853;16493581;16591531;16731529;16754661;16825197;1690728;16933105;1704217;17074750;17088321;171650;17339034;17367763;17588949;17604334;1765372;17886299;17943726;17968485;18059411;18083107;18487197;18559524;18622425;18710925;18775695;18852439;19075007;19159218;19502598;19564526;19690332;19693541;20033473;2005102;2010551;20106987;20470363;2059554;20705068;20813817;21251937;21376233;21593211;21642437;2169335;21789315;21878990;21935455;21967573;22134916;22241472;22382088;2253219;22539938;22884367;22905912;22933705;23040494;2307289;23090970;23271734;23374253;23583652;2364322;2412224;24190977;2420006;24275569;2430969;25328409;2537292;2543975;2548603;2551668;2551898;25576301;25597754;26740625;26768311;27535533;27846572;27862975;2809592;2834383;28435517;2845110;28657654;29093181;29137923;29242379;29263244;29408302;29493099;29557506;29741879;29786170;29789417;29964125;3038863;30389923;30429286;30459171;31085175;31154438;3173483;31844290;31848261;3198591;32157095;3223920;32387766;32488085;32938616;32983136;33123756;3348212;33592498;33968037;34171305;34185709;34405274;34509645;35051231;35318648;35484284;35580925;36010968;36241641;36284347;36292982;36521657;3665927;36982625;37074911;37217939;37938771;38665916;38860406;3905801;3938630;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;8305732;8344274;8440685;8463259;8560266;8576151;8782832;8798654;8838667;8900172;8910476;8920930;8943283;8999957;9008168;9054364;9092507;9099729;9251239;9252349;9294172;9334164;9334230;9341124;9346959;9398268;9443892;9545296;9560306;9565552;9582318;9651395;9685393;9739761;9856810;9858236;9949188", "class_list": "", "function": "A novel interplay between PRC2 and miR-3189 regulates epithelial-mesenchymal transition (EMT) via modulating COL6A2 in glioblastoma., [RefSeq, PubMed]; Collagen VI acts as a cell-binding protein., [UniProtKB]; Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes. Publication Status: Online-Only, [RefSeq, PubMed]; Role of COL6A2 in malignant progression and temozolomide resistance of glioma., [RefSeq, PubMed]; The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. 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 this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three 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": 1, "mined_n_glycosites": 1, "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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "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": 71, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 115, "disease_count": 5, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "Q13909;Q13910;Q13911;Q14048;Q14049;Q16259;Q16597;Q6P0Q1;Q9UML3;Q9Y4S8", "ec_number_list": "", "go_molecular_function": "GO:0005518 collagen binding;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:0005886 plasma membrane;GO:0031012 extracellular matrix", "go_biological_process": "GO:0007155 cell adhesion", "synthesized_glycan_count": 0, "hit_score": 41.8, "record_id": "P12110-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96AJ1-1", "uniprot_id": "CLUA1_HUMAN", "mass": 48125.0, "length": 413, "protein_name": "Clusterin-associated protein 1", "gene_name": "CLUAP1", "organism": "Human", "refseq_name": "clusterin-associated protein 1 isoform 1", "refseq_ac": "NP_055856", "gene_names_uniprotkb": "CLUAP1; KIAA0643", "gene_names_refseq": "CFAP22; CLUAP1; FAP22; IFT38", "protein_names_uniprotkb": "Clusterin-associated protein 1; Qilin", "protein_names_refseq": "cilia and flagella associated protein 22; clusterin associated protein 1; clusterin-associated protein 1 isoform 1; flagellar associated protein 22, qilin-like protein, homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:23059); (R-HSA-5620924)", "pathway_count": 2, "publication_count": 103, "publication_id_list": "10069812;11237011;11285270;12795688;15231740;15269286;15480429;15489852;15523559;15530380;15955805;16049494;16435301;16492809;16775004;16782012;17203229;17312020;17314406;17574030;18180368;18304522;18364699;18369462;18452278;18852297;19112494;19147001;19253336;19384852;19413330;19450523;19690332;19720863;19805633;20435895;20526327;20526328;20530210;20889716;21427764;21936775;22118932;22922713;22992454;23945166;23990561;24140113;24296415;24596149;24616010;25205765;25349261;25443296;25576301;25645385;25880248;25892735;26375851;26389662;26820066;26992070;28228285;28514659;28832583;28834231;28904123;29242379;29508533;29557506;29769354;29786170;30315122;30429286;30524438;31844290;32157095;32357974;32488085;32897882;32938616;32983136;33537174;33592498;33717175;33912179;33968037;33981976;34171305;34185709;35051231;35580925;36010968;36284347;36581221;37783116;37938771;8516294;8522608;9114011;9585416;9585417;9852153", "class_list": "", "function": "CLUAP1 (clusterin-associated protein 1) is highly expressed in osteosarcoma, ovarian, colon, and lung cancers, [RefSeq, PubMed]; Consistent with the knowledge that CLUAP1 plays an important role in cilia function and that cilia are critical to photoreceptor function, our results indicate that hypomorphic mutations in CLUAP1 can result in dysfunctional photoreceptors without systemic abnormalities. This is the first report linking mutations in CLUAP1 to human disease and establishes CLUAP1 as a candidate Leber congenital amaurosis gene, [RefSeq, PubMed]; Identification of the primary ciliary proteins IFT38 and IFT144 to enhance serum-mediated YAP activation and cell proliferation., [RefSeq, PubMed]; Inactivation of CLUAP1 may conceivably serve in the future as a novel therapeutic intervention for treatment of colon cancer Erratum:[Oncogene. 2005 Jun 16;24(26):4320], [RefSeq, PubMed]; Required for cilia biogenesis. Appears to function within the multiple intraflagellar transport complex B (IFT-B). Key regulator of hedgehog signaling., [UniProtKB, UniProtKB]; The protein encoded by this gene contains a single coiled-coil region. Alternative splicing results in multiple transcript variants and protein isoforms. [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": 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": "O75138;Q65ZA3;Q9H8R4;Q9H8T1", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005813 centrosome;GO:0005929 cilium;GO:0005815 microtubule organizing center;GO:0097546 ciliary base", "go_biological_process": "GO:0060271 cilium assembly;GO:0035720 intraciliary anterograde transport;GO:0030030 cell projection organization", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "Q96AJ1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y5X4-1", "uniprot_id": "NR2E3_HUMAN", "mass": 44692.0, "length": 410, "protein_name": "Photoreceptor-specific nuclear receptor", "gene_name": "NR2E3", "organism": "Human", "refseq_name": "photoreceptor-specific nuclear receptor isoform b", "refseq_ac": "NP_055064", "gene_names_uniprotkb": "NR2E3; PNR; RNR", "gene_names_refseq": "ESCS1; ESCS; NR2E3; PNR; RNR; RP37; rd7", "protein_names_uniprotkb": "Photoreceptor-specific nuclear receptor; Nuclear receptor subfamily 2 group E member 3; Retina-specific nuclear receptor", "protein_names_refseq": "photoreceptor-specific nuclear receptor isoform b; photoreceptor-specific nuclear receptor; retina-specific nuclear receptor", "tax_id": 9606, "disease": "enhanced S-cone syndrome 1 (Disease Ontology:DOID:0061231); enhanced S-cone syndrome (Disease Ontology:DOID:0090059); retinitis pigmentosa 37 (Disease Ontology:DOID:0110399)", "pathway": " (hsa:10002)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "10220376;10611353;10655056;11071390;12963616;15459973;15689355;16225923;17081983;17564971;18294254;19006237;24069298;33138239;34405274;35051231;36215666;37510230;37628579;38253038;38652563;38790135", "class_list": "", "function": "Clinical and Genetic Features of NR2E3-Associated Retinopathy: A Report of Eight Families with a Longitudinal Study and Literature Review. Publication Status: Online-Only, [RefSeq, PubMed]; NR2E3 loss disrupts photoreceptor cell maturation and fate in human organoid models of retinal development. Publication Status: Online-Only, [RefSeq, PubMed]; Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients. Publication Status: Online-Only, [RefSeq, PubMed]; Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3): Role in Retinal Development and Disease. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Orphan nuclear receptor of retinal photoreceptor cells. Transcriptional factor that is an activator of rod development and repressor of cone development. Binds the promoter region of a number of rod- and cone-specific genes, including rhodopsin, M- and S-opsin and rod-specific phosphodiesterase beta subunit. Enhances rhodopsin expression. Represses M- and S-cone opsin expression., [UniProtKB, PubMed, PubMed]; The Loss of an Orphan Nuclear Receptor NR2E3 Augments Wnt/beta-catenin Signaling via Epigenetic Dysregulation that Enhances Sp1-beta catenin-p300 Interactions in Hepatocellular Carcinoma., [RefSeq, PubMed]; This protein is part of a large family of nuclear receptor transcription factors involved in signaling pathways. Nuclear receptors have been shown to regulate pathways involved in embryonic development, as well as in maintenance of proper cell function in adults. Members of this family are characterized by discrete domains that function in DNA and ligand binding. This gene encodes a retinal nuclear receptor that is a ligand-dependent transcription factor. Defects in this gene are a cause of enhanced S cone syndrome. 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": 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": 2, "reported_glycation": 0, "reported_snv": 10, "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": "B6ZGU0;Q9UHM4", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0003707 nuclear steroid receptor activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0043565 sequence-specific DNA binding;GO:0004879 nuclear receptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005667 transcription regulator complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0007165 signal transduction;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0007601 visual perception;GO:0030182 neuron differentiation", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q9Y5X4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15287-1", "uniprot_id": "RNPS1_HUMAN", "mass": 34208.0, "length": 305, "protein_name": "RNA-binding protein with serine-rich domain 1", "gene_name": "RNPS1", "organism": "Human", "refseq_name": "RNA-binding protein with serine-rich domain 1 isoform a", "refseq_ac": "NP_001273554", "gene_names_uniprotkb": "RNPS1; LDC2", "gene_names_refseq": "E5.1; RNPS1", "protein_names_uniprotkb": "RNA-binding protein with serine-rich domain 1; SR-related protein LDC2", "protein_names_refseq": "RNA binding protein with serine-rich domain; RNA-binding protein S1, serine-rich domain; RNA-binding protein with serine-rich domain 1 isoform a; SR protein; SR-related protein LDC2", "tax_id": 9606, "disease": "", "pathway": " (hsa:10921); (R-HSA-159236); (R-HSA-72163); (R-HSA-72187); (R-HSA-9010553); (R-HSA-975957); (R-HSA-9918481)", "pathway_count": 7, "publication_count": 247, "publication_id_list": "10228171;10323864;10449421;10489353;10668806;10882114;11014198;11073998;11101529;11118221;11233976;11237011;11256625;11259411;11259602;11331269;11477570;11532962;11544179;11546874;11551508;11579093;11739738;11747608;11756420;11979277;11991638;12093754;12176931;12411573;12414731;12417715;12477934;12554878;12665594;12718880;12832468;12871933;12944400;14517304;14519844;14527413;14625303;14636577;14654843;14713954;14729963;14742663;14752011;14762106;14973490;15034551;15084397;15302935;15546618;15592455;15684395;15721257;15998806;16186820;16209946;16284618;16314397;16314458;16452507;16601204;16809785;17000901;17053788;17081983;17095540;17190602;17287340;17332742;17352659;17363904;17586820;17606899;17803942;17893241;17984224;18066079;18256688;18322460;18364396;18411249;18423201;18423202;18452278;18524595;18593880;18657639;18669648;18767875;18957205;18974281;19060897;19103666;19150429;19165350;19324961;19359157;19417104;19478851;19503078;19536130;19556969;19608861;19664995;19706539;19836239;19859661;19909264;20023408;20068231;20129943;20423332;20479275;20573985;20691628;20817927;20844015;20930030;20966198;20980672;21145460;21406692;21419344;21536652;2176635;21911577;21947206;22110043;22203037;22207203;22365833;22388736;22893130;22928037;22959432;22961380;23085078;23217742;23222130;23234702;23236153;23299939;23345524;23746841;23826332;24196718;24244187;24304693;24448447;24715725;24737827;24914973;25242263;25555158;2558966;25662211;25836925;25892735;26092250;26385511;26420826;26758079;26969736;26992070;27108190;27377154;27459055;27683217;27862975;28062851;28076346;28502770;28510447;28781166;28832583;28904123;29242379;29301961;29360106;29361316;29393594;29493099;29557506;2963332;29769354;29902443;30315122;30315277;30599162;30705154;30728453;30765414;30833945;30975767;31154438;31217245;31409651;31844290;31848261;32157095;32179686;32329775;32350084;32357974;32488085;32494006;32983136;33141586;33177556;33214551;33243851;33446560;33465208;33592498;33912179;34301950;34822310;35051231;35215846;35251023;35385551;35580925;36284347;36300671;37217939;3757028;38246918;40596516;8543184;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9580558;9618489;9660949;9671485;9701291;9731529", "class_list": "", "function": "Part of pre- and post-splicing multiprotein mRNP complexes. Auxiliary component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. Component of the ASAP and PSAP complexes which bind RNA in a sequence-independent manner and are proposed to be recruited to the EJC prior to or during the splicing process and to regulate specific excision of introns in specific transcription subsets. The ASAP complex can inhibit RNA processing during in vitro splicing reactions. The ASAP complex promotes apoptosis and is disassembled after induction of apoptosis. Enhances the formation of the ATP-dependent A complex of the spliceosome. Involved in both constitutive splicing and, in association with SRP54 and TRA2B/SFRS10, in distinctive modulation of alternative splicing in a substrate-dependent manner. Involved in the splicing modulation of BCL2L1/Bcl-X (and probably other apoptotic genes); specifically inhibits formation of proapoptotic isoforms such as Bcl-X(S); the activity is different from the established EJC assembly and function. Participates in mRNA 3'-end cleavage. Involved in UPF2-dependent nonsense-mediated decay (NMD) of mRNAs containing premature stop codons. Also mediates increase of mRNA abundance and translational efficiency. Binds spliced mRNA 20-25 nt upstream of exon-exon junctions., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; RNPS1 functions as an oncogenic splicing factor in cervical cancer cells., [RefSeq, PubMed]; RNPS1 stabilizes NAT10 protein to facilitate translation in cancer via tRNA ac[4]C modification. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. This protein contains many serine residues. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 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": 15, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 9, "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": "A8K1P0;B4DDU8;B4DZU7;B7ZA17;O75308;Q32P25;Q8WY42;Q9NYG3", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003730 mRNA 3'-UTR binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016607 nuclear speck", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0043065 positive regulation of apoptotic process;GO:0008380 RNA splicing;GO:0048025 negative regulation of mRNA splicing, via spliceosome;GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay", "synthesized_glycan_count": 0, "hit_score": 25.1, "record_id": "Q15287-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P62316-1", "uniprot_id": "SMD2_HUMAN", "mass": 13527.0, "length": 118, "protein_name": "Small nuclear ribonucleoprotein Sm D2", "gene_name": "SNRPD2", "organism": "Human", "refseq_name": "small nuclear ribonucleoprotein Sm D2 isoform 1", "refseq_ac": "NP_004588", "gene_names_uniprotkb": "SNRPD2; SNRPD1", "gene_names_refseq": "SMD2; SNRPD1; SNRPD2; Sm-D2", "protein_names_uniprotkb": "Small nuclear ribonucleoprotein Sm D2; Sm-D2; snRNP core protein D2", "protein_names_refseq": "small nuclear ribonucleoprotein D2 polypeptide 16.5kDa; small nuclear ribonucleoprotein Sm D2 isoform 1; small nuclear ribonucleoprotein Sm D2; snRNP core protein D2", "tax_id": 9606, "disease": "systemic lupus erythematosus (Disease Ontology:DOID:9074)", "pathway": " (hsa:6633); (R-HSA-191859); (R-HSA-72163); (R-HSA-72165); (R-HSA-9754678); (R-HSA-9770562); (R-HSA-9918481); (R-HSA-9943411)", "pathway_count": 8, "publication_count": 272, "publication_id_list": "10.1101/2023.09.13.557529;10025403;10199952;10207048;10500148;10531003;10556282;10601333;10669729;10725331;10851237;10882114;11014198;11060040;11101529;11233976;11237011;11333016;11333026;11607023;11714716;11747608;11748230;11823543;11991638;12042320;12065586;12095920;12176931;12411573;12414731;12441251;12477934;12682017;12776181;14519844;14625303;14654843;14713954;14749727;14762106;15037765;15084397;15104674;15146077;15565158;15647753;16263726;16314458;16314521;16372014;16809785;17095540;17128255;17332742;17433364;17606899;17717186;17940139;18042460;18288197;18322460;18593880;18669648;18984161;19052544;19103666;19165350;19217410;19325628;19536130;19651622;19691289;19838190;20068231;20112406;20211137;20305658;20423332;20695905;20980672;21295486;21516107;21536652;2176635;21816274;21911577;22046413;22110043;22121020;22365833;22569126;22645359;22813749;22922743;22959432;22961380;23186163;23222130;23236153;23333303;23345524;23481700;23874216;24076191;24149845;24196718;24304693;24366607;24448447;24737827;24914973;2524422;25301780;25301781;25418920;25469497;25555158;25576301;2558966;25645385;25772364;26092250;26154972;26385511;26420826;26811146;26912367;26929215;26969736;26992070;27108190;27377154;27459055;27510544;27543614;27600516;27661449;27683217;27726376;27846572;27920218;28062851;28063628;28076346;28096519;28218747;28228285;28502770;28781166;28834231;28860189;28871256;28904123;28911096;29186539;29242379;29274231;29301961;29360106;29361316;29393594;29437277;29532871;29557506;29632046;29632711;2963332;29786170;29789417;29902443;30139799;30192525;30257008;30315122;30315277;30410026;30599162;30705154;30728453;30765414;30779550;30833945;30975767;31217245;31222486;31409651;31530632;31799625;31844290;31848261;31998317;32157095;32161166;32179686;32329775;32350084;32387766;32488085;32494006;32680882;32816001;32897882;32908316;32938616;32983136;32995776;32995777;33080218;33091337;33177556;33188728;33214551;33243851;33268501;33446560;33465208;33479166;33592498;33633747;33717175;33968037;33981976;34019948;34087483;34171305;34211107;34229054;34301950;34315815;34357683;34373319;34433824;34624207;34725712;34822310;35008409;35051231;35154160;35177536;35215846;35251023;35385551;35561310;35580925;36215666;36241641;36284347;36610391;36797247;37217939;3757028;37938771;38665916;39018261;40596516;40930100;7527560;8196654;8566756;8608946;8835860;9016565;9242493;9512519;9524131;9539711;9659921;9671485;9701291;9731529;9845364", "class_list": "", "function": "Intron Retention of DDX39A Driven by SNRPD2 is a Crucial Splicing Axis for Oncogenic MYC/Spliceosome Program in Hepatocellular Carcinoma., [RefSeq, PubMed]; 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. Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene belongs to the small nuclear ribonucleoprotein core protein family. It is required for pre-mRNA splicing and small nuclear ribonucleoprotein biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 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": 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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "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": "A8K797;J3KPM5;P43330", "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:0070062 extracellular exosome", "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": 27.8, "record_id": "P62316-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UQ90-1", "uniprot_id": "SPG7_HUMAN", "mass": 88235.0, "length": 795, "protein_name": "Mitochondrial inner membrane m-AAA protease component paraplegin", "gene_name": "SPG7", "organism": "Human", "refseq_name": "mitochondrial inner membrane m-AAA protease component paraplegin isoform 1 precursor", "refseq_ac": "NP_003110", "gene_names_uniprotkb": "SPG7; CAR; CMAR; PGN", "gene_names_refseq": "CAR; CMAR; PGN; SPG5C; SPG7", "protein_names_uniprotkb": "Mitochondrial inner membrane m-AAA protease component paraplegin; 3.4.24.-; 3.6.-.-; Cell matrix adhesion regulator; Paraplegin; Spastic paraplegia 7 protein", "protein_names_refseq": "SPG7, paraplegin matrix AAA peptidase subunit; cell matrix adhesion regulator; mitochondrial inner membrane m-AAA protease component paraplegin isoform 1 precursor; mitochondrial inner membrane m-AAA protease component paraplegin; spastic paraplegia 7 (pure and complicated autosomal recessive); spastic paraplegia 7 protein", "tax_id": 9606, "disease": "hereditary spastic paraplegia 7 (Disease Ontology:DOID:0110816)", "pathway": " (hsa:6687); (R-HSA-8949664); (R-HSA-9837999)", "pathway_count": 3, "publication_count": 88, "publication_id_list": "10480368;11237011;11549317;11923310;12198491;14623864;15522782;15870080;16115876;16534102;17101804;17297443;17579211;17646629;19841671;20186691;20579626;22262461;22710082;23201127;23931759;24315374;24366607;24520911;26154972;26387735;26504172;26923599;26992070;27217339;27496948;27499296;27642048;27737933;27920218;28228285;28377575;28396416;28904123;29242379;29301859;29557506;29786170;29789417;29932645;30120231;30429286;30524438;31097542;31217245;31327635;31695197;31844290;32157095;32350084;32357974;32387766;32897882;32938616;33141586;33257573;33298915;33392160;33912179;33968037;33981976;34019948;34171305;34357683;34500365;34509645;34561969;34704252;34943861;35051231;35251023;35561310;35580925;35637455;35870450;36010968;36215666;36241641;36629048;37938771;39894887;7623837;9635427", "class_list": "", "function": "A novel compound heterozygous SPG7 variant is associated with progressive spastic ataxia and persecutory delusions found in Chinese patients: two case reports. Publication Status: Online-Only, [RefSeq, PubMed]; Catalytic component of the m-AAA protease, a protease that plays a key role in proteostasis of inner mitochondrial membrane proteins, and which is essential for axonal and neuron development (PubMed:11549317, PubMed:28396416, PubMed:31097542, PubMed:9635427). SPG7 possesses both ATPase and protease activities: the ATPase activity is required to unfold substrates, threading them into the internal proteolytic cavity for hydrolysis into small peptide fragments (By similarity). The m-AAA protease exerts a dual role in the mitochondrial inner membrane: it mediates the processing of specific regulatory proteins and ensures protein quality control by degrading misfolded polypeptides (By similarity). Mediates protein maturation of the mitochondrial ribosomal subunit MRPL32/bL32m by catalyzing the cleavage of the presequence of MRPL32/bL32m prior to assembly into the mitochondrial ribosome (By similarity). Acts as a regulator of calcium in neurons by mediating degradation of SMDT1/EMRE before its assembly with the uniporter complex, limiting the availability of SMDT1/EMRE for MCU assembly and promoting efficient assembly of gatekeeper subunits with MCU (PubMed:28396416, PubMed:31097542). Also regulates mitochondrial calcium by catalyzing degradation of MCU (PubMed:31097542). Plays a role in the formation and regulation of the mitochondrial permeability transition pore (mPTP) and its proteolytic activity is dispensable for this function (PubMed:26387735)., [UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations., [RefSeq, PubMed]; This gene encodes a mitochondrial metalloprotease protein that is a member of the AAA family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Mutations in this gene cause autosomal recessive spastic paraplegia 7. Two transcript variants encoding distinct isoforms have been identified. [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": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 12, "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": "O75756;Q2TB70;Q58F00;Q96IB0", "ec_number_list": "5.6.2.4;3.6.1.-;3.6.4.-;3.6.4.13;3.6.4.6;3.6.1.5;2.7.7.7;2.7.7.49;3.4.24.64;3.6.4.10;3.1.3.1;3.9.1.1;4.2.99.18;5.6.1.6;5.6.2.3;3.6.4.12;3.4.21.53;5.6.2.5;3.1.-.-;3.6.5.-;7.6.2.1;2.3.2.27;7.2.2.-;5.6.2.-;2.3.2.-;2.7.11.1;3.6.1.15;3.1.4.-;3.6.-.-;3.4.24.-;3.1.13.1;5.6.2.6;3.4.-.-;2.7.4.3", "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0051082 unfolded protein binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005745 m-AAA complex;GO:0005757 mitochondrial permeability transition pore complex;GO:0016020 membrane", "go_biological_process": "GO:1902686 mitochondrial outer membrane permeabilization involved in programmed cell death;GO:0006508 proteolysis;GO:0007399 nervous system development;GO:0046902 regulation of mitochondrial membrane permeability;GO:0034982 mitochondrial protein processing", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "Q9UQ90-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P09012-1", "uniprot_id": "SNRPA_HUMAN", "mass": 31280.0, "length": 282, "protein_name": "U1 small nuclear ribonucleoprotein A", "gene_name": "SNRPA", "organism": "Human", "refseq_name": "U1 small nuclear ribonucleoprotein A", "refseq_ac": "NP_004587", "gene_names_uniprotkb": "SNRPA", "gene_names_refseq": "Mud1; SNRPA; U1-A; U1A", "protein_names_uniprotkb": "U1 small nuclear ribonucleoprotein A; U1 snRNP A; U1-A; U1A", "protein_names_refseq": "U1 small nuclear RNP-specific A; U1 small nuclear ribonucleoprotein A; U1 snRNP A; U1 snRNP-specific protein A", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); germ cell cancer (Disease Ontology:DOID:2994); connective tissue disease (Disease Ontology:DOID:65)", "pathway": " (hsa:6626); (R-HSA-72163); (R-HSA-9770562)", "pathway_count": 3, "publication_count": 214, "publication_id_list": "10669729;10882114;11014198;11060040;11101529;11233976;11237011;11862315;11991638;12176931;12203842;12411573;12414731;12477934;14625303;14713954;14749727;15037765;15116427;15565158;16314458;16809785;1708261;17095540;17128255;1717192;17332742;17606899;1826055;18288197;1831431;18322460;1833186;18593880;18669648;18849143;19103666;19165350;19217410;19248110;19536130;19561594;19608861;20068231;20423332;20695905;20980672;21295486;21362751;2147232;21536652;2176635;22110043;22365833;22813749;22959432;22961380;23186163;23222130;23236153;23345524;23874216;24076191;24129315;24149845;24196718;24304693;24448447;24715725;24737827;24914973;25301780;25301781;25555158;25576301;2558966;26154972;26385511;26420826;26758079;26811146;26969736;26992070;27377154;27459055;27600516;27683217;27862975;27920218;28062851;28076346;28096519;28218747;28228285;28446606;28502770;28781166;28832583;28834231;28904123;28911096;29186539;29237092;29242379;29274231;29301961;29360106;29361316;29393594;29437277;29485866;29508533;29532871;29557506;2962859;29632046;29632711;2963332;29786170;29789417;30059200;30139799;30257008;30315122;30315277;30379171;30410026;30429286;30524438;30538201;30705154;30728453;30765414;30833945;30975767;31154438;31222486;31373491;31409651;31492838;31530632;31844290;31848261;31937595;32119511;32157095;32161166;32179686;32329775;32357974;32387766;32488085;32494006;32502341;32816001;32897882;32938616;32938750;32983136;33214551;33243851;33446560;33537174;33592498;33912179;33936100;33968037;34019948;34171305;34185709;34301950;34725712;34822310;34932366;35051231;35098410;35154160;35177536;35254053;35289036;35318648;35385551;35513511;35580925;35705054;36010968;36240223;3757028;37938771;39302247;39531497;39534244;40307207;40596516;7984237;8070414;8566756;8602269;8608946;8609632;8621944;9016565;9242493;9265619;9312034;9512519;9524131;9539711;9659921;9671485;9701291;9731529;9802926;9848648", "class_list": "", "function": "Circ_0009910 Serves as miR-361-3p Sponge to Promote the Proliferation, Metastasis, and Glycolysis of Gastric Cancer via Regulating SNRPA., [RefSeq, PubMed]; Component of the spliceosomal U1 snRNP, which is essential for recognition of the pre-mRNA 5' splice-site and the subsequent assembly of the spliceosome. U1 snRNP is the first snRNP to interact with pre-mRNA. This interaction is required for the subsequent binding of U2 snRNP and the U4/U6/U5 tri-snRNP. SNRPA binds stem loop II of U1 snRNA. In a snRNP-free form (SF-A) may be involved in coupled pre-mRNA splicing and polyadenylation process. May bind preferentially to the 5'-UGCAC-3' motif on RNAs., [UniProtKB, PubMed]; The protein encoded by this gene associates with stem loop II of the U1 small nuclear ribonucleoprotein, which binds the 5' splice site of precursor mRNAs and is required for splicing. The encoded protein autoregulates itself by polyadenylation inhibition of its own pre-mRNA via dimerization and has been implicated in the coupling of splicing and polyadenylation. [provided by RefSeq, Oct 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": 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": 5, "reported_glycation": 0, "reported_snv": 8, "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": "", "ec_number_list": "", "go_molecular_function": "GO:1990446 U1 snRNP binding;GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0042802 identical protein binding;GO:0030619 U1 snRNA binding", "go_cellular_component": "GO:0005685 U1 snRNP;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005681 spliceosomal complex", "go_biological_process": "GO:0000387 spliceosomal snRNP assembly;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 21.8, "record_id": "P09012-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75419-1", "uniprot_id": "CDC45_HUMAN", "mass": 65569.0, "length": 566, "protein_name": "Cell division control protein 45 homolog", "gene_name": "CDC45", "organism": "Human", "refseq_name": "cell division control protein 45 homolog isoform 1", "refseq_ac": "NP_001171481", "gene_names_uniprotkb": "CDC45; CDC45L2; CDC45L; PRO710", "gene_names_refseq": "CDC45L2; CDC45L; CDC45; MGORS7; PORC-PI-1", "protein_names_uniprotkb": "Cell division control protein 45 homolog; PORC-PI-1", "protein_names_refseq": "CDC45 cell division cycle 45 homolog; CDC45 cell division cycle 45-like; CDC45-related protein; cell division control protein 45 homolog isoform 1; cell division control protein 45 homolog; cell division cycle 45-like 2; human CDC45", "tax_id": 9606, "disease": "Meier-Gorlin syndrome (Disease Ontology:DOID:0060306); chromosome 22q11.2 deletion syndrome, distal (Disease Ontology:DOID:0060413); Meier-Gorlin syndrome 7 (Disease Ontology:DOID:0080518)", "pathway": " (hsa:8318); (R-HSA-176187); (R-HSA-176974); (R-HSA-68962); (R-HSA-69205)", "pathway_count": 5, "publication_count": 130, "publication_id_list": "10051334;10051570;10228158;10373362;10373557;10454584;10518787;10523313;10597240;10692433;10757793;10777662;10827953;10846177;10859164;10882098;11095689;11125146;11237011;11390642;11959842;11988738;12045100;12399544;12578958;12676583;12676925;12750860;12759351;12782299;12791985;12963847;12975309;14500360;14603323;14605214;14624239;14990995;15014447;15190204;15226314;15510213;15707391;15743907;15833913;16327781;16407120;17417653;18477386;18480045;18669648;24397554;25231993;25418920;25576301;25880248;25933514;26154972;26375851;26811146;26992070;27374770;27846572;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29493099;29769354;30315122;30379171;30429286;30524438;30779550;31154438;31530632;31844290;32157095;32265295;32357974;32387766;32453425;32488085;32897882;32938616;33141586;33298915;33392160;33691108;33912179;33936100;33968037;33981976;34087483;34509645;34694004;34700328;34932366;35154160;35318648;35580925;35585232;36010968;36082823;36241641;37938771;37985379;38467731;38515458;7623816;7929342;8114698;8196638;8288595;8618861;8943031;8943353;9020173;9278511;9278512;9520412;9660782;9662327;9724329;9755170;9778043", "class_list": "", "function": "A second hotspot for pathogenic exon-skipping variants in CDC45., [RefSeq, PubMed]; IGF2BP2 promotes glycolysis and hepatocellular carcinoma stemness by stabilizing CDC45 mRNA via m6A modification., [RefSeq, PubMed]; Required for initiation of chromosomal DNA replication. Core component of CDC45-MCM-GINS (CMG) helicase, the molecular machine that unwinds template DNA during replication, and around which the replisome is built., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Systematic pancancer analysis identifies CDC45 as having an oncogenic role in human cancers., [RefSeq, PubMed]; The protein encoded by this gene was identified by its strong similarity with Saccharomyces cerevisiae Cdc45, an essential protein required to the initiation of DNA replication. Cdc45 is a member of the highly conserved multiprotein complex including Cdc6/Cdc18, the minichromosome maintenance proteins (MCMs) and DNA polymerase, which is important for early steps of DNA replication in eukaryotes. This protein has been shown to interact with MCM7 and DNA polymerase alpha. Studies of the similar gene in Xenopus suggested that this protein play a pivotal role in the loading of DNA polymerase alpha onto chromatin. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]., [RefSeq]; Validation of CDC45 as a novel biomarker for diagnosis and prognosis of gastric 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": 4, "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": "B4DDB4;B4DDU3;E9PDH7;O60856;Q20WK8;Q6UW54;Q9UP68", "ec_number_list": "", "go_molecular_function": "GO:0003688 DNA replication origin binding;GO:0003682 chromatin binding;GO:0003697 single-stranded DNA binding", "go_cellular_component": "GO:0031261 DNA replication preinitiation complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0036064 ciliary basal body", "go_biological_process": "GO:0000076 DNA replication checkpoint signaling;GO:1902977 mitotic DNA replication preinitiation complex assembly;GO:0006260 DNA replication;GO:0006270 DNA replication initiation;GO:0000727 double-strand break repair via break-induced replication", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "O75419-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6TDU7-1", "uniprot_id": "DNAI7_HUMAN", "mass": 83160.0, "length": 716, "protein_name": "Dynein axonemal intermediate chain 7", "gene_name": "DNAI7", "organism": "Human", "refseq_name": "dynein axonemal intermediate chain 7 isoform c", "refseq_ac": "NP_001076441", "gene_names_uniprotkb": "DNAI7; CASC1; CFAP94; LAS1; PPP1R54", "gene_names_refseq": "CASC1; CFAP94; DNAI7; LAS1; PPP1R54", "protein_names_uniprotkb": "Dynein axonemal intermediate chain 7; Cancer susceptibility candidate gene 1 protein; Cilia and flagella associated protein 94; Lung adenoma susceptibility 1-like protein; Protein CASC1; Protein phosphatase 1 regulatory subunit 54", "protein_names_refseq": "cancer susceptibility 1; cancer susceptibility candidate 1; cancer susceptibility candidate gene 1 protein; cilia and flagella associated protein 94; dynein axonemal intermediate chain 7 isoform c; dynein intermediate chain CFAP94, axonemal; lung adenoma susceptibility 1-like protein; protein CASC1; protein phosphatase 1 regulatory subunit 54", "tax_id": 9606, "disease": "", "pathway": " (hsa:55259)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;14583591;16410263;18299280;20639392;26992070;35051231;35580925", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Via its association with the multisubunit axonemal dynein complex, is potentially involved in the regulation of cilia function. May also act as a cell cycle regulator., [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": "B4DNP2;F5H6T6;Q17RL2;Q4G171;Q5U5K5;Q9NV50", "ec_number_list": "", "go_molecular_function": "GO:0008017 microtubule binding;GO:0048487 beta-tubulin binding", "go_cellular_component": "GO:0005929 cilium;GO:0005930 axoneme;GO:0005858 axonemal dynein complex", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q6TDU7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96MT4-1", "uniprot_id": "CF195_HUMAN", "mass": 13896.0, "length": 127, "protein_name": "Uncharacterized protein encoded by LINC01600", "gene_name": "LINC01600", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "LINC01600; C6orf195", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein encoded by LINC01600", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "29557506;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": "Q3SY08;Q3SY09;Q3SY10;Q5TAW4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q96MT4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BRJ6-1", "uniprot_id": "CHOLN_HUMAN", "mass": 22083.0, "length": 194, "protein_name": "Protein cholesin", "gene_name": "CHLSN", "organism": "Human", "refseq_name": "protein cholesin isoform a", "refseq_ac": "NP_001127867", "gene_names_uniprotkb": "CHLSN; C7orf50; FP15621", "gene_names_refseq": "C7orf50; CHLSN; YCR016W", "protein_names_uniprotkb": "Protein cholesin", "protein_names_refseq": "protein cholesin isoform a; protein cholesin; uncharacterized protein C7orf50", "tax_id": 9606, "disease": "", "pathway": " (hsa:84310)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "11237011;15498874;17081983;17287340;18452278;18669648;18707149;19415658;19651622;19664994;20058876;20068231;21406692;23186163;23301498;28063628;28228285;28510447;28832583;28904123;29242379;29493099;29557506;29632046;30315122;30429286;31844290;32488085;33298915;33968037;35051231;35494241;35580925;38503280", "class_list": "", "function": "A gut-derived hormone regulates cholesterol metabolism., [RefSeq, PubMed]; Hormone secreted from the intestine in response to cholesterol, where it acts to inhibit cholesterol synthesis in the liver and VLDL secretion,leading to a reduction in circulating cholesterol levels. Acts through binding to its receptor, GPR146., [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": 5, "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": "", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0005179 hormone activity", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0045541 negative regulation of cholesterol biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q9BRJ6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P25774-1", "uniprot_id": "CATS_HUMAN", "mass": 37496.0, "length": 331, "protein_name": "Cathepsin S", "gene_name": "CTSS", "organism": "Human", "refseq_name": "cathepsin S isoform 2 preproprotein", "refseq_ac": "NP_001186668", "gene_names_uniprotkb": "CTSS", "gene_names_refseq": "CTSS", "protein_names_uniprotkb": "Cathepsin S; 3.4.22.27", "protein_names_refseq": "cathepsin S isoform 2 preproprotein", "tax_id": 9606, "disease": "obstructive sleep apnea (Disease Ontology:DOID:0050848); COVID-19 (Disease Ontology:DOID:0080600); Raynaud disease (Disease Ontology:DOID:10300); pneumoconiosis (Disease Ontology:DOID:10316); Alzheimer's disease (Disease Ontology:DOID:10652); intracranial aneurysm (Disease Ontology:DOID:10941); sarcoidosis (Disease Ontology:DOID:11335); Duchenne muscular dystrophy (Disease Ontology:DOID:11723); Down syndrome (Disease Ontology:DOID:14250); cystic fibrosis (Disease Ontology:DOID:1485); diffuse scleroderma (Disease Ontology:DOID:1580); relapsing-remitting multiple sclerosis (Disease Ontology:DOID:2378); idiopathic interstitial pneumonia (Disease Ontology:DOID:2797); asthma (Disease Ontology:DOID:2841); interstitial lung disease (Disease Ontology:DOID:3082); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); carotid artery disease (Disease Ontology:DOID:3407); neuropathy (Disease Ontology:DOID:870); type 2 diabetes mellitus (Disease Ontology:DOID:9352); pulmonary emphysema (Disease Ontology:DOID:9675)", "pathway": " (hsa:1520); (R-HSA-1236977); (R-HSA-1474228); (R-HSA-1679131); (R-HSA-2022090); (R-HSA-2132295); (R-HSA-6798695); (R-HSA-9766229); (R-HSA-9958810)", "pathway_count": 9, "publication_count": 245, "publication_id_list": "10036229;10064083;10072072;10229672;10386589;10468607;10480952;10540230;10593899;10596943;10631941;10631952;10639150;10706100;10748235;10809722;10809954;10966814;10986281;11237011;11247303;11375993;11529500;11684289;11790530;11813165;11853874;11856830;11872628;12078484;12198549;12482924;12727852;12742663;12748383;12843408;1373132;1377692;1400327;14517306;14602708;14716310;14731593;14973287;15226270;15234972;15265795;15591058;15749704;15837520;15911768;15958533;16133547;16181339;16242130;16415873;1649600;16618111;16631740;16824007;16825321;16857668;16973841;1698775;1707285;17142755;17275357;17283181;17332331;17354228;17452530;17469812;17608959;17686471;18046453;18082565;18166152;18268517;18292509;18305481;18434311;18507432;18509083;18653540;18658137;18802471;18820679;18931679;19010778;19079358;19451267;19498108;1956401;19564404;19571574;19657146;19693541;19714641;19918052;19965672;20142769;20855885;20865800;21030783;21081667;21116285;2121367;21297635;21398612;21402738;21441454;21441952;21604257;21670566;21784848;21864727;2190094;22159414;22164301;22223641;22323579;23035980;2307289;23328677;23650620;23719902;23845380;2391366;24190977;24714562;25253721;25418920;25469497;25502872;25505266;25880248;25892735;26154972;26280083;26811146;27090790;27452731;28228285;28278510;28467828;28649982;28832583;28855257;29242379;29314611;29317506;29356040;29393594;29437277;29508533;29557506;29632046;29632711;29769354;29774024;29786170;30315122;30429286;30573663;30612035;30626607;30833945;31611695;31844290;32157095;32162841;32350084;32357974;32387766;32502341;32938616;32983136;33043033;33091337;33298915;33392160;33592498;33633747;33912179;33936100;34078123;34357683;34932366;35051231;35154160;35251023;35561310;35580925;36284347;36982499;37020415;37263311;38701365;38914301;7075587;7481823;7547873;7592972;7604034;7650016;7667286;8046351;8134367;8145819;8148318;8157683;8207089;8226919;8313912;8315383;8344253;8397411;8415765;8626565;8642258;8687433;8692836;8849454;8909537;8939989;8947036;9008168;9065415;9075930;9115292;9148753;9202021;9311912;9312039;9366419;9461298;9497313;9524075;9539769;9545226;9606180;9799232;9852107;9856810;9876921", "class_list": "glycogene", "function": "Cathepsin S Knockdown Suppresses Endothelial Inflammation, Angiogenesis, and Complement Protein Activity under Hyperglycemic Conditions In Vitro by Inhibiting NF-kappaB Signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Elevated Cathepsin S Serum Levels in New-Onset Type 1 Diabetes and Autoantibody-Positive Siblings., [RefSeq, PubMed]; Granulomatous rosacea in Chinese patients: Clinical-histopathological analysis and pathogenesis exploration., [RefSeq, PubMed]; Macrophage-Derived Cathepsin S Remodels the Extracellular Matrix to Promote Liver Fibrogenesis., [RefSeq, PubMed]; Potential role of CTSS in AMDImmune modulatory and anti-angiogenic effects of cathepsin S knockdown in ARPE-19 cells., [RefSeq, PubMed]; The preproprotein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that participates in the degradation of antigenic proteins to peptides for presentation on MHC class II molecules. The mature protein cleaves the invariant chain of MHC class II molecules in endolysosomal compartments and enables the formation of antigen-MHC class II complexes and the proper display of extracellular antigenic peptides by MHC-II. The mature protein also functions as an elastase over a broad pH range. When secreted from cells, this protein can remodel components of the extracellular matrix such as elastin, collagen, and fibronectin. This gene is implicated in the pathology of many inflammatory and autoimmune diseases and, given its elastase activity, plays a significant role in some pulmonary diseases. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2020]., [RefSeq]; Thiol protease (PubMed:30612035). Key protease responsible for the removal of the invariant chain from MHC class II molecules and MHC class II antigen presentation (PubMed:30612035). The bond-specificity of this proteinase is in part similar to the specificities of cathepsin L (PubMed:30612035). Elicits itch by mediating cleavage and activation of MRGPRX1 (By similarity)., [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": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "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": 1, "reported_glycation": 0, "reported_snv": 313, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 20, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B4DWC9;D3DV05;Q5T5I0;Q6FHS5;Q9BUG3", "ec_number_list": "1.8.3.2;3.4.19.12;3.6.4.13;3.4.24.-;3.4.22.43;1.1.1.42;2.4.2.1;3.4.21.46;3.4.21.-;1.16.3.1;3.4.24.7;1.11.1.6;4.1.2.13;2.4.1.1;5.3.1.9;5.1.3.-;3.4.23.5;3.4.22.52;3.4.22.15;3.4.22.1;3.6.4.10;3.2.1.31;3.4.24.17;2.5.1.18;3.4.24.23;1.13.11.-;1.13.11.34;3.3.2.6;3.4.11.4;3.4.16.5;3.4.16.-;1.1.1.205;4.2.99.18;5.6.2.4;3.6.5.-;4.2.1.24;3.4.19.1;3.4.23.34;5.3.2.1;5.3.3.12;2.7.10.2;2.7.11.1;2.7.1.40;3.4.24.35;3.1.6.14;3.1.6.12;3.2.1.23;2.7.1.11;5.4.2.11;5.4.2.4;2.7.4.6;2.7.13.3;3.4.24.34;3.4.22.27;2.7.11.24;3.1.3.48;3.5.4.5;3.4.21.4;5.4.2.2;3.4.24.65;3.4.22.42;3.4.22.38;2.4.1.186;3.6.1.-;2.7.1.1;2.7.1.-;2.3.3.8;3.4.14.1;3.6.4.6;3.2.1.17;5.2.1.8;3.1.1.47;3.1.1.-;3.5.4.6;1.11.1.24;3.2.1.14;3.5.1.23;3.5.1.-;3.5.1.109;2.7.11.22;2.7.11.23;2.3.2.5;2.3.2.27;2.3.2.26;3.6.1.6;3.4.19.9;5.4.2.7;3.4.25.1;3.4.22.34;2.1.1.348;2.1.1.9;3.5.1.3;3.4.18.1;3.4.22.41;4.1.2.4", "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0005518 collagen binding;GO:0043236 laminin binding;GO:0008233 peptidase activity;GO:0043394 proteoglycan binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:1904813 ficolin-1-rich granule lumen;GO:0005764 lysosome", "go_biological_process": "GO:0006508 proteolysis;GO:0006955 immune response;GO:0016485 protein processing;GO:0022617 extracellular matrix disassembly;GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II", "synthesized_glycan_count": 0, "hit_score": 24.9, "record_id": "P25774-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P17844-1", "uniprot_id": "DDX5_HUMAN", "mass": 69148.0, "length": 614, "protein_name": "Probable ATP-dependent RNA helicase DDX5", "gene_name": "DDX5", "organism": "Human", "refseq_name": "probable ATP-dependent RNA helicase DDX5 isoform a", "refseq_ac": "NP_001307524", "gene_names_uniprotkb": "DDX5; G17P1; HELR; HLR1", "gene_names_refseq": "DDX5; G17P1; HLR1; HUMP68; p68", "protein_names_uniprotkb": "Probable ATP-dependent RNA helicase DDX5; 3.6.4.13; DEAD box protein 5; RNA helicase p68", "protein_names_refseq": "ATP-dependent RNA helicase DDX5; DEAD (Asp-Glu-Ala-Asp) box helicase 5; DEAD (Asp-Glu-Ala-Asp) box polypeptide 5; DEAD box protein 5; DEAD box-5; DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD); RNA helicase p68; probable ATP-dependent RNA helicase DDX5 isoform a", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); nicotine dependence (Disease Ontology:DOID:0050742); abdominal obesity-metabolic syndrome (Disease Ontology:DOID:0060611); alcoholic neuropathy (Disease Ontology:DOID:14183); Parkinson's disease (Disease Ontology:DOID:14330); alcohol use disorder (Disease Ontology:DOID:1574); cancer (Disease Ontology:DOID:162); skin squamous cell carcinoma (Disease Ontology:DOID:3151); schizophrenia (Disease Ontology:DOID:5419); amphetamine abuse (Disease Ontology:DOID:670); cocaine dependence (Disease Ontology:DOID:9975); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:1655); (R-HSA-3899300); (R-HSA-72163); (R-HSA-9018519); (R-HSA-9682706); (R-HSA-9694686); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 8, "publication_count": 472, "publication_id_list": "10.1101/2023.09.13.557529;10409727;10500157;10513815;10648785;10669729;10807784;10828826;10837141;10873660;10882114;11010967;11014198;11034064;11060040;11101529;11103799;11136970;11165043;11233976;11237011;11250900;11345900;11410592;11452016;11477070;11581164;11682626;11747608;11823473;11842083;11991638;12042320;12150977;12176931;12411573;12414731;12477934;12498683;12527917;12529333;12595555;12612073;12679040;12718889;12959972;14519844;14625303;14631847;14654843;14675539;14713954;14749727;14762106;15001666;15004565;15037765;15084397;15104674;15116427;15276198;15282324;15298701;15343269;15345050;1546328;15514030;15565158;15592455;15660129;15766567;15944288;15958389;15976810;15986123;16009131;16046058;16087863;16098147;16113099;1630819;16314458;16757475;16809785;16980581;17011493;17013392;17018282;17079232;17081986;17095540;17128255;17277772;17287340;17298944;17308301;17332742;17369852;17384675;17412694;17463000;17495528;17510434;17535915;17547437;17606899;17637753;17666587;17690249;17803295;17924679;17932509;17942393;17960593;18082607;18187655;18211901;18212344;18219272;18256232;18279852;18288197;18322460;18322535;18339323;18358809;18476782;18488044;18533032;18593880;18669648;18691976;18762174;18805503;18829551;19001364;19020303;19054851;19098913;19103666;19165350;19217410;19224332;19240082;19274700;19295514;19321454;19383337;19536130;19596686;19608861;19615980;19651622;19718048;19786986;1996094;19995069;20068231;20098713;20112406;20176810;20219941;20220130;20423332;20498280;20570965;20676127;20676135;20682797;20695905;20941364;20980672;21106759;21136679;21151129;21295486;21338522;21343338;21406692;21445275;21527249;21536652;21573489;2176635;2181374;21835891;21878914;21911577;21934649;21940756;22034099;22056668;22110043;22265404;22301153;22362731;22365833;22424782;22467880;22492511;22544926;22545144;22645359;22704330;22713328;22813749;22959432;22961380;22967762;23110695;23145106;23172872;23186163;23192763;23222130;23236153;23303788;23322042;23345524;23349811;23403292;23404503;23435229;23482664;2349099;23673342;23723241;23874216;23906331;24076191;24149845;24167369;24196718;24304693;24366607;24371278;24448447;2451786;24644279;24714562;24715725;24735615;24737827;24854081;24885040;24914973;24973012;24998469;25114211;25218447;25296600;25301780;25301781;25365482;25418920;25433557;25469497;25502872;25505266;25542856;25555158;25576301;2558966;25633194;25663755;25674852;25728767;25732088;25755297;25772364;25800734;25810538;25892735;26024233;26030138;26056233;26092250;26153859;26154972;26204489;26212035;26375851;26385511;26420826;26462610;26479350;26492414;26811146;26969736;26992070;27062924;27070377;27108190;27377154;27459055;27600516;27683217;27846572;27862975;27886276;27920218;28062851;28063628;28076346;28096519;28216662;28218747;28228285;28502770;28510447;28514659;28539435;28649982;28781166;28832583;28834231;28855257;28860189;28904123;28911096;29186539;2919170;29242379;29274231;29301961;29314611;29351928;29360106;29361316;29393594;29437277;29493099;29508533;29557506;29603667;29632046;29632711;2963332;29769354;29786170;29789417;29902443;30139799;30192525;30257008;30315122;30315277;30379171;30397120;30410026;30418433;30429286;30444036;3045126;30484775;30484950;30524438;30599162;30705154;30728453;30765414;30975767;31020640;31092671;31217245;31409651;31844290;31848261;32119511;32157095;32179686;32265295;32329775;32350084;32357974;32387766;32488085;32494006;32502341;32522876;3281094;32816001;32897882;32938616;32983136;33043033;33123756;33141586;33177556;33214551;33243851;33298915;33392160;33446560;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34301950;34357683;34405274;34433824;34509645;34561969;34725712;34822310;34932366;3498214;35051231;35083852;35132862;35138101;35154160;35177536;35215846;35251023;35254053;35318648;35385551;35561310;35580925;36010968;36215666;36241641;36284347;36581221;3677090;3757028;37938771;38665916;38782119;38953887;39093065;39289531;39534244;39990658;40596516;40914422;41018975;7525583;7559524;7935485;7937828;8195246;8197458;8419924;8566756;8608946;8876171;9016565;9201922;9242493;9338790;9388265;9512519;9524131;9539711;9611253;9659921;9671459;9671485;9701291;9731529;9731700", "class_list": "", "function": "DDX5 played an important role in the proliferation and tumorigenesis of non-small-cell lung cancer cells by activating the beta-catenin signaling pathway., [RefSeq, PubMed]; DDX5 promotes esophageal squamous cell carcinoma growth through sustaining VAV3 mRNA stability., [RefSeq, PubMed]; Helicases DDX5 and DDX17 promote heterogeneity in HBV transcription termination in infected human hepatocytes., [RefSeq, PubMed]; Involved in the alternative regulation of pre-mRNA splicing; its RNA helicase activity is necessary for increasing tau exon 10 inclusion and occurs in a RBM4-dependent manner. Binds to the tau pre-mRNA in the stem-loop region downstream of exon 10. The rate of ATP hydrolysis is highly stimulated by single-stranded RNA. Involved in transcriptional regulation; the function is independent of the RNA helicase activity. Transcriptional coactivator for androgen receptor AR but probably not ESR1. Synergizes with DDX17 and SRA1 RNA to activate MYOD1 transcriptional activity and involved in skeletal muscle differentiation. Transcriptional coactivator for p53/TP53 and involved in p53/TP53 transcriptional response to DNA damage and p53/TP53-dependent apoptosis. Transcriptional coactivator for RUNX2 and involved in regulation of osteoblast differentiation. Acts as a transcriptional repressor in a promoter-specific manner; the function probably involves association with histone deacetylases, such as HDAC1. As component of a large PER complex is involved in the inhibition of 3' transcriptional termination of circadian target genes such as PER1 and NR1D1 and the control of the circadian rhythms., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Mechanism by which p68 may act as a tumour cosuppressor in governing p53 transcriptional activity, [RefSeq, PubMed]; NAP1L1 Promotes Endometrial Cancer Progression via EP300-Mediated DDX5 Promoter Acetylation., [RefSeq, PubMed]; Regulatory mechanism of DDX5 in ox-LDL-induced endothelial cell injury through the miR-640/SOX6 axis., [RefSeq, PubMed]; This gene encodes a member of the DEAD box family of RNA helicases that are involved in a variety of cellular processes as a result of its role as an adaptor molecule, promoting interactions with a large number of other factors. This protein is involved in pathways that include the alteration of RNA structures, plays a role as a coregulator of transcription, a regulator of splicing, and in the processing of small noncoding RNAs. Members of this family contain nine conserved motifs, including the conserved Asp-Glu-Ala-Asp (DEAD) motif, important to ATP binding and hydrolysis as well as RNA binding and unwinding activities. Dysregulation of this gene may play a role in cancer development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 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": 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": 19, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 3, "disease_count": 12, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B4DLW8;B5BU21;D3DU32;E7ETL9;O75681;Q53Y61", "ec_number_list": "5.6.2.4;3.6.1.-;3.6.4.-;3.6.4.13;2.3.2.27;5.2.1.8;3.6.4.6;3.6.1.5;2.7.7.7;2.7.7.49;2.3.2.-;3.6.4.10;3.1.3.1;3.9.1.1;4.2.99.18;5.6.1.6;5.6.2.3;3.1.13.-;2.7.7.48;2.7.7.6;3.6.4.12;3.4.21.53;5.6.2.5;2.7.7.19;3.1.-.-;3.6.5.-;3.1.3.16;3.1.3.53;7.6.2.1;2.3.1.48;2.3.1.-;2.7.11.1;7.2.2.-;3.4.19.12;5.6.2.-;2.1.1.319;3.6.1.15;3.1.4.-;2.3.1.57;3.6.-.-;2.7.1.78;3.4.24.-;3.1.13.1;5.6.2.6;3.4.-.-;2.7.7.52;3.1.27.-;2.7.4.3", "go_molecular_function": "GO:0036002 pre-mRNA binding;GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0005516 calmodulin binding;GO:0005524 ATP binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006357 regulation of transcription by RNA polymerase II;GO:0030509 BMP signaling pathway;GO:0048511 rhythmic process;GO:0043517 positive regulation of DNA damage response, signal transduction by p53 class mediator", "synthesized_glycan_count": 0, "hit_score": 48.3, "record_id": "P17844-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P003-1", "uniprot_id": "CNIH4_HUMAN", "mass": 16093.0, "length": 139, "protein_name": "Protein cornichon homolog 4", "gene_name": "CNIH4", "organism": "Human", "refseq_name": "protein cornichon homolog 4 isoform 2", "refseq_ac": "NP_001264126", "gene_names_uniprotkb": "CNIH4; HSPC163", "gene_names_refseq": "CNIH-4; CNIH4; HSPC163", "protein_names_uniprotkb": "Protein cornichon homolog 4; CNIH-4; Cornichon family AMPA receptor auxiliary protein 4", "protein_names_refseq": "cornichon family AMPA receptor auxiliary protein 4; protein cornichon homolog 4 isoform 2; protein cornichon homolog 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:29097)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11230166;11237011;23481700;24405750;28130019;28218747;28510447;28832583;29242379;29786170;32157095;32938616;33592498;33968037;34932366;36220450;36404537;38087815", "class_list": "", "function": "Comprehensive analysis of clinical prognosis and biological significance of CNIH4 in cervical cancer. Erratum:[Cancer Med. 2024 Sep;13(17):e70214. doi: 10.1002/cam4.70214. PMID: 39245962], [RefSeq, PubMed]; Hsa_circ_0000190 (gene symbol is CNIH4) may be a novel non-invasive biomarker for the diagnosis of gastric cancer, [RefSeq, PubMed]; Involved in G protein-coupled receptors (GPCRs) trafficking from the endoplasmic reticulum to the cell surface; it promotes the exit of GPCRs from the early secretory pathway, likely through interaction with the COPII machinery (PubMed:24405750)., [UniProtKB, PubMed]; Potential roles of Cornichon Family AMPA Receptor Auxiliary Protein 4 (CNIH4) in head and neck squamous cell carcinoma., [RefSeq, PubMed]; Screening and identification of CNIH4 gene associated with cell proliferation in gastric cancer based on a large-scale CRISPR-Cas9 screening database DepMap., [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": "A8K1Q8;B2R553;Q9H0X8", "ec_number_list": "", "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0031730 CCR5 chemokine receptor binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0030134 COPII-coated ER to Golgi transport vesicle;GO:0005789 endoplasmic reticulum membrane;GO:0005793 endoplasmic reticulum-Golgi intermediate compartment;GO:0016020 membrane", "go_biological_process": "GO:0015031 protein transport;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q9P003-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P42695-1", "uniprot_id": "CNDD3_HUMAN", "mass": 168891.0, "length": 1498, "protein_name": "Condensin-2 complex subunit D3", "gene_name": "NCAPD3", "organism": "Human", "refseq_name": "condensin-2 complex subunit D3 isoform 1", "refseq_ac": "NP_056076", "gene_names_uniprotkb": "NCAPD3; CAPD3; KIAA0056", "gene_names_refseq": "CAP-D3; CAPD3; MCPH22; NCAPD3; hCAP-D3; hHCP-6; hcp-6", "protein_names_uniprotkb": "Condensin-2 complex subunit D3; Non-SMC condensin II complex subunit D3; hCAP-D3", "protein_names_refseq": "condensin-2 complex subunit D3 isoform 1; condensin-2 complex subunit D3", "tax_id": 9606, "disease": "primary autosomal recessive microcephaly 22 (Disease Ontology:DOID:0051033); primary autosomal recessive microcephaly 23 (Disease Ontology:DOID:0051034)", "pathway": " (hsa:23310); (R-HSA-2299718)", "pathway_count": 2, "publication_count": 116, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12086618;12208845;14532007;15302935;15750587;16565220;16964243;17081983;17924679;18077418;18211953;18220336;18367646;18452278;18669648;18691976;18718915;19007248;19651622;19664995;19690332;19691289;20068231;20551165;20551166;20622854;20630806;20966048;21406692;21498573;21515671;21872626;21911480;23186163;23481700;23498719;23728299;24366607;24714562;24715725;25418920;25576301;25880248;26154972;26375851;26811146;26992070;27600516;27737959;27846572;27893789;27920218;28063628;28218747;28228285;28832583;28834231;28855257;28904123;29028794;29242379;29331515;29393594;29493099;29508533;29557506;29632046;29769354;30192525;30315122;30429286;30484775;31217245;31844290;31885422;31998317;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34509645;34932366;35051231;35085770;35318648;35494241;35580925;36010968;36215666;36241641;36284347;37938771;38253038;38566039;40914422", "class_list": "", "function": "Condensin II(CAP-D3 and CAP-H2) and GAIT subunits associate with L1 RNA in a co-dependent manner, independent of IFN-gamma. These findings suggest that cooperation between the Condensin II and GAIT complexes may facilitate a novel mechanism of L1 repression, thus contributing to the maintenance of genome stability in somatic cells Publication Status: Online-Only, [RefSeq, PubMed]; Condensin complexes I and II play essential roles in mitotic chromosome assembly and segregation. Both condensins contain 2 invariant structural maintenance of chromosome (SMC) subunits, SMC2 (MIM 605576) and SMC4 (MIM 605575), but they contain different sets of non-SMC subunits. NCAPD3 is 1 of 3 non-SMC subunits that define condensin II (Ono et al., 2003 [PubMed 14532007]).[supplied by OMIM, Mar 2008]., [RefSeq]; Knockdown of NCAPD3 inhibits the tumorigenesis of non-small cell lung cancer by regulation of the PI3K/Akt pathway. Publication Status: Online-Only, [RefSeq, PubMed]; NCAPD2 and NCAPD3 expression levels have been confirmed to be significantly up-regulated in the intestinal mucosa of patients with active ulcerative colitis. In vitro, the data suggested that silencing NACPD2 and NACPD3 could depress the expression of IL-1beta, IL-6 and TNF-alpha. Further, knockdown of NACPD2 and NACPD3 could remarkably suppress IKK nucleation and NF-kappaB volume., [RefSeq, PubMed]; NCAPD3 promotes prostate cancer progression by up-regulating EZH2 and MALAT1 through STAT3 and E2F1., [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 (PubMed:14532007). 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. Specifically required for decatenation of 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, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The CAP-D3 subunit of the condensin II complex implicated in chromosome assembly and segeregation, [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": 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": 25, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 39, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 2, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A6NFS2;Q4KMQ9", "ec_number_list": "", "go_molecular_function": "GO:0042393 histone binding;GO:0140117 histone H4K20me1 reader activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0016020 membrane;GO:0000796 condensin complex;GO:0000779 condensed chromosome, centromeric region;GO:0005721 pericentric heterochromatin", "go_biological_process": "GO:0051301 cell division;GO:0007076 mitotic chromosome condensation;GO:0010032 meiotic chromosome condensation", "synthesized_glycan_count": 0, "hit_score": 12.5, "record_id": "P42695-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92600-1", "uniprot_id": "CNOT9_HUMAN", "mass": 33631.0, "length": 299, "protein_name": "CCR4-NOT transcription complex subunit 9", "gene_name": "CNOT9", "organism": "Human", "refseq_name": "CCR4-NOT transcription complex subunit 9 isoform 1", "refseq_ac": "NP_001258563", "gene_names_uniprotkb": "CNOT9; RCD1; RQCD1", "gene_names_refseq": "CAF40; CNOT9; CT129; RCD-1; RCD1; RQCD1", "protein_names_uniprotkb": "CCR4-NOT transcription complex subunit 9; Cell differentiation protein RQCD1 homolog; Rcd-1", "protein_names_refseq": "CCR4-NOT transcription complex subunit 9 isoform 1; RCD1 required for cell differentiation1 homolog; cancer/testis antigen 129; cell differentiation protein RCD1 homolog; cell differentiation protein RQCD1 homolog; protein involved in sexual development", "tax_id": 9606, "disease": "", "pathway": " (hsa:9125); (R-HSA-429947); (R-HSA-5617472); (R-HSA-6804115); (R-HSA-9820841)", "pathway_count": 5, "publication_count": 160, "publication_id_list": "10637334;10777502;10882133;11237011;11283721;11814693;11889047;11896574;12356739;12897130;1355481;14583602;14749774;14968113;15475613;15713436;15867264;16079151;16140933;16141059;16160013;16284618;16549775;17052452;17146433;17185360;17189474;17245413;17428788;1756725;17595167;17660710;17713478;17761849;17851529;18180299;18337750;18625844;18781158;19115252;19232136;19239894;19276069;19558367;19747919;1975088;19782034;19854132;20068231;20085832;20352051;20531387;22252318;22424782;22569366;22705304;22879880;23219899;23232451;23236473;23534758;23630040;24174538;24312487;24586203;24714562;24715725;25101834;25135475;25418920;25480299;25544760;25576301;25645385;2570724;25802875;25913784;26154972;26811146;26992070;27543614;27600516;27862975;28228285;28832583;28834231;28904123;29242379;29493099;29508533;29557506;29605689;29632711;29786170;30315122;30429286;30524438;30779550;31092671;31154438;31217245;31222486;31844290;31848261;31937595;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32502391;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34171305;34211107;34357683;34509645;34647228;34932366;35051231;35251023;35318648;35580925;36010968;36215666;36241641;36581221;37092538;40914422;7488013;7501971;7831296;7906964;7908827;8674428;8759021;8944033;9099687;9184226;9218805;9272954;9447985;9482740;9671765;9712883", "class_list": "", "function": "CCR4 plays a role in the regulation of certain endogenous RARalpha target genes and RCD1 and CCR4 might mediate their function through their interaction with NIF-1, [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. Involved in down-regulation of MYB- and JUN-dependent transcription. May play a role in cell differentiation (By similarity). Can bind oligonucleotides, such as poly-G, poly-C or poly-T (in vitro), but the physiological relevance of this is not certain. Does not bind poly-A. Enhances ligand-dependent transcriptional activity of nuclear hormone receptors, including RARA, expect ESR1-mediated transcription that is not only slightly increased, if at all., [UniProtKB, PubMed, PubMed]; De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy., [RefSeq, PubMed]; Mammalian protein is a novel transcriptional cofactor that mediates retinoic acid-induced cell differentiation, [RefSeq, PubMed]; This gene encodes a member of the highly conserved RCD1 protein family. The encoded protein is a transcriptional cofactor and a core protein of the CCR4-NOT complex. It may be involved in signal transduction as well as retinoic acid-regulated cell differentiation and development. Alternatively spliced transcript variants have been described for this gene. [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": 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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RPI0;B5MDQ4;B7Z1E5;Q96IX4", "ec_number_list": "", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0019904 protein domain specific binding;GO:0042803 protein homodimerization activity;GO:0019900 kinase binding;GO:0005154 epidermal growth factor receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0016020 membrane;GO:0000932 P-body;GO:0032991 protein-containing complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0033138 positive regulation of peptidyl-serine phosphorylation;GO:0045742 positive regulation of epidermal growth factor receptor signaling pathway;GO:0017148 negative regulation of translation;GO:0007548 sex differentiation", "synthesized_glycan_count": 0, "hit_score": 16.3, "record_id": "Q92600-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P43146-1", "uniprot_id": "DCC_HUMAN", "mass": 158457.0, "length": 1447, "protein_name": "Netrin receptor DCC", "gene_name": "DCC", "organism": "Human", "refseq_name": "netrin receptor DCC", "refseq_ac": "NP_005206", "gene_names_uniprotkb": "DCC; IGDCC1", "gene_names_refseq": "CRC18; CRCR1; DCC; HGPPS2; IGDCC1; MRMV1; NTN1R1", "protein_names_uniprotkb": "Netrin receptor DCC; Colorectal cancer suppressor; Immunoglobulin superfamily DCC subclass member 1; Tumor suppressor protein DCC", "protein_names_refseq": "colorectal cancer suppressor; deleted in colorectal carcinoma; immunoglobulin superfamily DCC subclass member 1; netrin receptor DCC; putative colorectal tumor suppressor; tumor suppressor protein DCC", "tax_id": 9606, "disease": "mirror movements 1 (Disease Ontology:DOID:0070636); congenital mirror movement disorder (Disease Ontology:DOID:0111153); depressive disorder (Disease Ontology:DOID:1596); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); colorectal cancer (Disease Ontology:DOID:9256); gaze palsy, familial horizontal, with progressive scoliosis, 2 (MONDO:MONDO:0054602)", "pathway": " (hsa:1630); (R-HSA-373752); (R-HSA-376172); (R-HSA-418885); (R-HSA-418886); (R-HSA-418889); (R-HSA-418890); (R-HSA-428542)", "pathway_count": 8, "publication_count": 63, "publication_id_list": "10925149;10995436;11237011;11248093;11453658;11817894;12011067;12149262;12154370;12810718;15040784;15310786;15494732;15494734;15557120;15573119;15574733;15646429;15788770;15960985;16158190;16762451;16959974;17174565;18066058;18212043;18216854;18216855;18253061;1991322;20431009;21642953;2294591;24715725;24936616;25123307;26586761;27920218;28250454;28250456;28411811;28904123;29557506;29786170;30524438;31844290;33592498;34087483;35051231;36215666;37074911;38289148;38314870;38419228;38556604;7926722;8187090;8188295;8861902;9334332;9796814;9858595;9950216", "class_list": "", "function": "Identification of specific codon 201 mutation of the DCC Gene in the colonoscopic specimen of colorectal cancer., [RefSeq, PubMed]; NME1 and DCC variants are associated with susceptibility and tumor characteristics in Mexican patients with colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Possible Role of Netrin-1/Deleted in Colorectal Cancer/Vascular Endothelial Growth Factor Signaling Pathway in the Pathogenesis of Placenta Accreta Spectrum: A Case-control Study., [RefSeq, PubMed]; Receptor for netrin required for axon guidance. Mediates axon attraction of neuronal growth cones in the developing nervous system upon ligand binding. Its association with UNC5 proteins may trigger signaling for axon repulsion. It also acts as a dependence receptor required for apoptosis induction when not associated with netrin ligand. Implicated as a tumor suppressor gene., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; This gene encodes a netrin 1 receptor. The transmembrane protein is a member of the immunoglobulin superfamily of cell adhesion molecules, and mediates axon guidance of neuronal growth cones towards sources of netrin 1 ligand. The cytoplasmic tail interacts with the tyrosine kinases Src and focal adhesion kinase (FAK, also known as PTK2) to mediate axon attraction. The protein partially localizes to lipid rafts, and induces apoptosis in the absence of ligand. The protein functions as a tumor suppressor, and is frequently mutated or downregulated in colorectal cancer and esophageal carcinoma. [provided by RefSeq, Oct 2009]., [RefSeq]", "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": 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": 5, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 106, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 6, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0030424 axon;GO:0098839 postsynaptic density membrane", "go_biological_process": "GO:0007409 axonogenesis;GO:0001764 neuron migration;GO:0006915 apoptotic process;GO:0010977 negative regulation of neuron projection development;GO:0098609 cell-cell adhesion", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "P43146-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6IBW4-1", "uniprot_id": "CNDH2_HUMAN", "mass": 68227.0, "length": 605, "protein_name": "Condensin-2 complex subunit H2", "gene_name": "NCAPH2", "organism": "Human", "refseq_name": "condensin-2 complex subunit H2 isoform 3", "refseq_ac": "NP_001171940", "gene_names_uniprotkb": "NCAPH2; CAPH2", "gene_names_refseq": "CAPH2; NCAPH2", "protein_names_uniprotkb": "Condensin-2 complex subunit H2; Chromosome-associated protein H2; Kleisin-beta; Non-SMC condensin II complex subunit H2; hCAP-H2", "protein_names_refseq": "CAP-H2 subunit of the condensin II complex; CTA-384D8.36; chromosome-associated protein H2; condensin-2 complex subunit H2 isoform 3; kleisin beta", "tax_id": 9606, "disease": "", "pathway": " (hsa:29781); (R-HSA-2299718)", "pathway_count": 2, "publication_count": 88, "publication_id_list": "11237011;12086618;12208845;14532007;15302935;15750587;16565220;16964243;17081983;17525332;18077418;18211953;18212344;18367646;18452278;18477386;18669648;18691976;18718915;18991276;19413330;19651622;19664995;19690332;19691289;19913121;20068231;20551165;20551166;20622854;20966048;21498573;21515671;21911480;23186163;23301498;23481700;23498719;24366607;24714562;24934155;25505266;25576301;25645385;26154972;26374642;26728094;26992070;27846572;28218747;28510447;28717250;28832583;28834231;28904123;29242379;29437277;29485866;29493099;29557506;30410026;30429286;30524438;31217245;31844290;32157095;32357974;32502341;32897882;32938616;32983136;33078399;33141586;33392160;33592498;33936100;33968037;34171305;34185709;34561969;34768935;34932366;35580925;36010968;36284347;36806511;37938771;40914422", "class_list": "", "function": "Associations Between Levels of Peripheral NCAPH2 Promoter Methylation and Different Stages of Alzheimer's Disease: A Cross-Sectional Study., [RefSeq, PubMed]; Cancer-associated mutations in the condensin II subunit CAPH2 cause genomic instability through telomere dysfunction and anaphase chromosome bridges., [RefSeq, PubMed]; OCT1 Is a Poor Prognostic Factor for Breast Cancer Patients and Promotes Cell Proliferation via Inducing NCAPH. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Regulatory subunit of the condensin-2 complex, a complex that seems to provide chromosomes with an additional level of organization and rigidity and in establishing mitotic chromosome architecture (PubMed:14532007). 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 chromatin bridges at 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 (By similarity). Seems to have lineage-specific role in T-cell development (PubMed:14532007)., [UniProtKB, UniProtKB, PubMed]; The CAP-H2 subunit of the condensin II complex implicated in chromosome assembly and segregation, [RefSeq, PubMed]; This gene encodes one of the non-SMC subunits of the condensin II complex. This complex plays an essential role in mitotic chromosome assembly. Alternate splicing of this gene results in multiple transcript variants.[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": 24, "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": "B7WPH1;O43788;Q13391;Q96C14;Q96GJ0;Q9BQ71;Q9BUT3;Q9BVD1", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding", "go_cellular_component": "GO:0000794 condensed nuclear chromosome;GO:0005634 nucleus;GO:0005654 nucleoplasm;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:0021987 cerebral cortex development;GO:0007076 mitotic chromosome condensation;GO:0051306 mitotic sister chromatid separation", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "Q6IBW4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q02246-1", "uniprot_id": "CNTN2_HUMAN", "mass": 113393.0, "length": 1040, "protein_name": "Contactin-2", "gene_name": "CNTN2", "organism": "Human", "refseq_name": "contactin-2 precursor", "refseq_ac": "NP_001333012", "gene_names_uniprotkb": "CNTN2; AXT; TAG1; TAX1", "gene_names_refseq": "AXT; CNTN2; EPEO5; FAME5; TAG-1; TAX1; TAX", "protein_names_uniprotkb": "Contactin-2; Axonal glycoprotein TAG-1; Axonin-1; TAX-1; Transient axonal glycoprotein 1", "protein_names_refseq": "axonal glycoprotein TAG-1; axonin-1 cell adhesion molecule; contactin 2 (axonal); contactin 2 (transiently expressed); contactin-2 precursor; transient axonal glycoprotein 1", "tax_id": 9606, "disease": "familial adult myoclonic epilepsy 5 (Disease Ontology:DOID:0111691); epilepsy (Disease Ontology:DOID:1826); high grade glioma (Disease Ontology:DOID:3070); T-cell adult acute lymphocytic leukemia (Disease Ontology:DOID:5602); lung disease (Disease Ontology:DOID:850)", "pathway": " (hsa:6900); (R-HSA-373760); (R-HSA-419037); (R-HSA-447038)", "pathway_count": 4, "publication_count": 33, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12765789;14978216;15340161;16000162;16267048;16335952;17322306;17766378;18059411;21152083;23518707;25911201;27543614;27862975;2809592;28121444;28228285;29557506;31844290;32806791;32983136;35051231;36734072;37074911;37565279;38460076;8262246;8307567;8425542;8586412;9398268", "class_list": "", "function": "Assessment of Bcl-xL, TAX, and HBZ Gene Expression in Adult T cell Leukemia/Lymphoma Patients., [RefSeq, PubMed]; Contactin-1 Is Reduced in Cerebrospinal Fluid of Parkinson's Disease Patients and Is Present within Lewy Bodies. Publication Status: Online-Only, [RefSeq, PubMed]; Gene-gene interaction network analysis indicates CNTN2 is a candidate gene for idiopathic generalized epilepsy. Erratum:[Neurogenetics. 2025 Jan 28;26(1):24. doi: 10.1007/s10048-025-00802-1. PMID: 39873752], [RefSeq, PubMed]; In conjunction with another transmembrane protein, CNTNAP2, contributes to the organization of axonal domains at nodes of Ranvier by maintaining voltage-gated potassium channels at the juxtaparanodal region. May be involved in cell adhesion., [UniProtKB, PubMed]; The molecular mechanism of gamma-aminobutyric acid against AD: the role of CEBPalpha/circAPLP2/miR-671-5p in regulating CNTN1/2 expression. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the contactin family of proteins, part of the immunoglobulin superfamily of cell adhesion molecules. The encoded glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein plays a role in the proliferation, migration, and axon guidance of neurons of the developing cerebellum. A mutation in this gene may be associated with adult myoclonic epilepsy. [provided by RefSeq, Sep 2016]., [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": 7, "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": 9, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 9, "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": 47, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 5, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "P78432;Q5T054", "ec_number_list": "", "go_molecular_function": "GO:0030246 carbohydrate binding;GO:0098632 cell-cell adhesion mediator activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0030424 axon;GO:0043025 neuronal cell body;GO:0043209 myelin sheath", "go_biological_process": "GO:0007155 cell adhesion;GO:0050808 synapse organization;GO:0045444 fat cell differentiation;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:0022604 regulation of cell morphogenesis", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q02246-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NWW5-1", "uniprot_id": "CLN6_HUMAN", "mass": 35919.0, "length": 311, "protein_name": "Ceroid-lipofuscinosis neuronal protein 6", "gene_name": "CLN6", "organism": "Human", "refseq_name": "ceroid-lipofuscinosis neuronal protein 6 isoform 1", "refseq_ac": "NP_060352", "gene_names_uniprotkb": "CLN6", "gene_names_refseq": "CLN4A; CLN6A; CLN6; HsT18960; nclf", "protein_names_uniprotkb": "Ceroid-lipofuscinosis neuronal protein 6; Protein CLN6", "protein_names_refseq": "ceroid-lipofuscinosis neuronal 6 late infantile; ceroid-lipofuscinosis neuronal protein 6 isoform 1; ceroid-lipofuscinosis neuronal protein 6; ceroid-lipofuscinosis, neuronal 6, late infantile", "tax_id": 9606, "disease": "reticular dysgenesis (Disease Ontology:DOID:0060020); neuronal ceroid lipofuscinosis 6A (Disease Ontology:DOID:0110729); neuronal ceroid lipofuscinosis 6B (Disease Ontology:DOID:0110730); neuronal ceroid lipofuscinosis (Disease Ontology:DOID:14503); temporal lobe epilepsy (Disease Ontology:DOID:3328)", "pathway": " (hsa:54982)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "11237011;11727201;11791207;12673792;12815591;15265688;17081983;17237713;18691976;19201763;19235893;19651622;19941651;20068231;20166139;20430023;21549341;21990111;22645359;23481700;24714562;26992070;27535533;28904123;29437277;29493099;30315122;30410026;31217245;31530632;31611695;31844290;32357974;32938616;33123756;33141586;33392160;33912179;33936100;34357683;34380921;34509645;34561969;34597687;35012600;35051231;35580925;38382230", "class_list": "", "function": "CLN6's luminal tail-mediated functional interference between CLN6 mutants as a novel pathomechanism for the neuronal ceroid lipofuscinoses., [RefSeq, PubMed]; Gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein, [RefSeq, PubMed]; Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica's experience. Publication Status: Online-Only, [RefSeq, PubMed]; P.Asn77Lys homozygous CLN6 mutation in two unrelated Japanese patients with Kufs disease, an adult onset neuronal ceroid lipofuscinosis., [RefSeq, PubMed]; This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. [provided by RefSeq, Oct 2008]., [RefSeq]; Whole exome sequencing identifies variable expressivity of CLN6 variants in Progressive myoclonic epilepsy affected families., [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": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K560;B4DDH6;Q6IAB1;Q96SR0", "ec_number_list": "", "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0035727 lysophosphatidic acid binding;GO:0120146 sulfatide binding", "go_cellular_component": "GO:0005769 early endosome;GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0016020 membrane;GO:0045121 membrane raft", "go_biological_process": "GO:0008203 cholesterol metabolic process;GO:0007040 lysosome organization;GO:0030163 protein catabolic process;GO:0030203 glycosaminoglycan metabolic process;GO:0045862 positive regulation of proteolysis", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q9NWW5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H000-1", "uniprot_id": "MKRN2_HUMAN", "mass": 46940.0, "length": 416, "protein_name": "E3 ubiquitin-protein ligase makorin-2", "gene_name": "MKRN2", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase makorin-2 isoform 2", "refseq_ac": "NP_001258636", "gene_names_uniprotkb": "MKRN2; HSPC070; RNF62", "gene_names_refseq": "HSPC070; MKRN2; RNF62", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase makorin-2; 2.3.2.27; RING finger protein 62; RING-type E3 ubiquitin transferase makorin-2", "protein_names_refseq": "E3 ubiquitin-protein ligase makorin-2 isoform 2; RING finger protein 62; RING-type E3 ubiquitin transferase makorin-2; makorin RING zinc-finger protein 2; probable E3 ubiquitin-protein ligase makorin-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:23609)", "pathway_count": 1, "publication_count": 71, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11597136;19413330;21872626;23481700;24275569;24366607;24715725;25576301;25645385;26992070;27600516;27846572;27920218;28008940;28063628;28218747;28228285;28510447;28514659;28832583;28834231;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30524438;30779550;30833945;31154438;31217245;31844290;31848261;31998317;32157095;32350084;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33633747;33717175;33968037;33981976;34019948;34087483;34171305;34211107;34932366;35051231;35580925;36010968;36241641;36284347;36938725;37528788;38665916;38753876", "class_list": "", "function": "E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins (By similarity). Promotes the polyubiquitination and proteasome-dependent degradation of RELA/p65, thereby suppressing RELA-mediated NF-kappaB transactivation and negatively regulating inflammatory responses (By similarity). Plays a role in the regulation of spermiation and in male fertility (By similarity)., [UniProtKB, UniProtKB]; Identifying cellular RNA-binding proteins during infection uncovers a role for MKRN2 in influenza mRNA trafficking. Publication Status: Online-Only, [RefSeq, PubMed]; MKRN1/2 serve as tumor suppressors in renal clear cell carcinoma by regulating the expression of p53., [RefSeq, PubMed]; MKRN2 and RAF1 are co-expressed in tissues and cell lines, [RefSeq, PubMed]; This gene encodes a probable E3 ubiquitin ligase containing several zinc finger domains, that is a member of the makorin RING zinc-finger protein family. This gene overlaps the v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1) gene in an antisense orientation and may have a co-regulatory function with RAF1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]., [RefSeq]; [Overexpression of MKRN2 Inhibits the Growth of Ovarian 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": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 0, "reported_glycation": 0, "reported_snv": 11, "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": "A6NIA2;B3KRC5;B4DPR4;Q8N391;Q96BD4;Q9BUY2;Q9NRY1", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0002862 negative regulation of inflammatory response to antigenic stimulus", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "Q9H000-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P51911-1", "uniprot_id": "CNN1_HUMAN", "mass": 33170.0, "length": 297, "protein_name": "Calponin-1", "gene_name": "CNN1", "organism": "Human", "refseq_name": "calponin-1 isoform 1", "refseq_ac": "NP_001290", "gene_names_uniprotkb": "CNN1", "gene_names_refseq": "CNN1; HEL-S-14; SMCC; Sm-Calp", "protein_names_uniprotkb": "Calponin-1; Basic calponin; Calponin H1, smooth muscle", "protein_names_refseq": "basic calponin; calponin 1, basic, smooth muscle; calponin H1, smooth muscle; calponin-1 isoform 1; calponins, basic; epididymis secretory protein Li 14", "tax_id": 9606, "disease": "oral squamous cell carcinoma (Disease Ontology:DOID:0050866); myelodysplastic syndrome (Disease Ontology:DOID:0050908); immunodeficiency 71 (Disease Ontology:DOID:0112004); stomach cancer (Disease Ontology:DOID:10534); gastritis (Disease Ontology:DOID:4029); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:1264); (R-HSA-9927432)", "pathway_count": 2, "publication_count": 26, "publication_id_list": "10873572;11237011;15206927;23481700;25576301;27846572;28068849;29242379;29557506;29786170;29789417;31844290;32157095;32938616;33592498;33657658;34357683;35051231;35580925;36010968;36284347;37938771;38240701;38665916;8526917;9332369", "class_list": "", "function": "Calponin and MUC6 complement inhibin as diagnostic immunomarkers of serous cystadenoma in endoscopic ultrasound-guided aspiration/biopsy specimens., [RefSeq, PubMed]; Long non-coding RNA MEG3 acts as a suppressor in breast cancer by regulating miR-330/CNN1., [RefSeq, PubMed]; Studied maternal serum calponin 1 levels in the prediction of delivery within 7 days among pregnancies complicated with threatened preterm labor. Of 73 women included in the study, found the maternal serum calponin 1 level was significantly high in women who delivered within 7 days vs. those who delivered after 7 days., [RefSeq, PubMed]; 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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 6, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R868;B4DUX6;O00638;Q15416;Q8IY93;Q99438", "ec_number_list": "", "go_molecular_function": "GO:0005516 calmodulin binding;GO:0051015 actin filament binding;GO:0003779 actin binding", "go_cellular_component": "GO:0005856 cytoskeleton;GO:0005925 focal adhesion;GO:0015629 actin cytoskeleton", "go_biological_process": "GO:0006940 regulation of smooth muscle contraction;GO:0007015 actin filament organization;GO:0031032 actomyosin structure organization;GO:1904706 negative regulation of vascular associated smooth muscle cell proliferation", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "P51911-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P14735-1", "uniprot_id": "IDE_HUMAN", "mass": 117968.0, "length": 1019, "protein_name": "Insulin-degrading enzyme", "gene_name": "IDE", "organism": "Human", "refseq_name": "insulin-degrading enzyme isoform 2", "refseq_ac": "NP_001159418", "gene_names_uniprotkb": "IDE", "gene_names_refseq": "IDE; INSULYSIN", "protein_names_uniprotkb": "Insulin-degrading enzyme; 3.4.24.56; Abeta-degrading protease; Insulin protease; Insulinase; Insulysin", "protein_names_refseq": "Abeta-degrading protease; insulin protease; insulin-degrading enzyme isoform 2; insulinase", "tax_id": 9606, "disease": "diabetic encephalopathy (Disease Ontology:DOID:0050850); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); Alzheimer's disease (Disease Ontology:DOID:10652); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:3416); (R-HSA-5689880); (R-HSA-77387); (R-HSA-9033241)", "pathway_count": 4, "publication_count": 222, "publication_id_list": "10022913;10444327;10562279;10673331;10684867;10982817;11101887;11237011;11546814;11566882;11779865;11781871;11923872;11931631;12456682;12559034;12578380;12717447;12885776;12917689;12917691;14661020;15053880;15545321;15850385;15858711;15916963;16214042;16271887;16574064;16854980;16901786;16964248;17007944;17051221;17055432;17290220;17443180;17553876;17613531;17726030;17873522;17980597;17981138;18172164;18359941;18406720;18467330;18632802;18636086;18712838;18986166;19015242;19135894;19188362;19197237;19208625;19321446;19363159;19398555;19424180;19584060;19632994;19838211;19874889;19910467;20068231;20096447;20178365;20228808;20364150;20368735;20501646;21098034;21239494;21362556;21554508;21571647;21596315;21659512;21849505;21962518;21976670;21980954;22002062;22029577;22057399;22085928;22087256;22128162;22216260;22371489;22747494;2293021;23159851;23395819;23486064;23824326;23825189;23922390;23963456;24056413;24235149;24260525;24397554;24493797;24714562;24715725;24847884;24865970;24896179;25016021;25197364;25305019;25418920;25505266;25538232;25576301;25578727;25854684;25880248;25892735;26086376;26138649;26154972;26220973;26344566;26394692;26758079;26811146;26968463;26992070;27397612;27597759;27846572;27862975;28521612;28611990;28765278;28787099;28904123;29437277;29557506;29596046;2986535;30315122;30397120;30410026;30429286;30484775;3059494;3061785;30779550;30833945;31154438;31217245;31530632;31844290;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34078123;34087483;34171305;34357683;34725712;34932366;35051231;35154160;35236268;35318648;35546756;35580925;36010968;36215666;36241641;36284347;36551314;36581221;37371470;37466059;37938771;38665916;7578059;7719337;7790377;7929063;8300632;8682206;8824437;8858165;8991089;8995282;9090381;9090382;9090383;9539740;9609117;9653144;9668159;9793760;9830016;9837948", "class_list": "", "function": "(Microbial infection) The membrane-associated isoform acts as an entry receptor for varicella-zoster virus (VZV)., [UniProtKB, PubMed, PubMed]; Correlation between insulin-degrading enzyme versus total tau and selected cytokines in patients with Alzheimer s disease compared to non-demented controls., [RefSeq, PubMed]; Insights into Non-Proteolytic Inhibitory Mechanisms of Polymorphic Early-Stage Amyloid beta Oligomers by Insulin Degrading Enzyme. Publication Status: Online-Only, [RefSeq, PubMed]; Insulin-Degrading Enzyme Interacts with Mitochondrial Ribosomes and Respiratory Chain Proteins. Publication Status: Online-Only, [RefSeq, PubMed]; Link of BIN1, CLU, and IDE Gene Polymorphisms with the Susceptibility of Alzheimer's Disease: Evidence from a Meta-analysis., [RefSeq, PubMed]; Plays a role in the cellular breakdown of insulin, APP peptides, IAPP peptides, natriuretic peptides, glucagon, bradykinin, kallidin, and other peptides, and thereby plays a role in intercellular peptide signaling (PubMed:10684867, PubMed:17051221, PubMed:17613531, PubMed:18986166, PubMed:19321446, PubMed:21098034, PubMed:2293021, PubMed:23922390, PubMed:24847884, PubMed:26394692, PubMed:26968463, PubMed:29596046). Substrate binding induces important conformation changes, making it possible to bind and degrade larger substrates, such as insulin (PubMed:23922390, PubMed:26394692, PubMed:29596046). Contributes to the regulation of peptide hormone signaling cascades and regulation of blood glucose homeostasis via its role in the degradation of insulin, glucagon and IAPP (By similarity). Plays a role in the degradation and clearance of APP-derived amyloidogenic peptides that are secreted by neurons and microglia (Probable) (PubMed:26394692, PubMed:9830016). Degrades the natriuretic peptides ANP, BNP and CNP, inactivating their ability to raise intracellular cGMP (PubMed:21098034). Also degrades an aberrant frameshifted 40-residue form of NPPA (fsNPPA) which is associated with familial atrial fibrillation in heterozygous patients (PubMed:21098034). Involved in antigen processing. Produces both the N terminus and the C terminus of MAGEA3-derived antigenic peptide (EVDPIGHLY) that is presented to cytotoxic T lymphocytes by MHC class I., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Polymorphism Rs2421943 of the Insulin-Degrading Enzyme Gene and the Risk of Late-Onset Alzheimer's Disease., [RefSeq, PubMed]; This gene encodes a zinc metallopeptidase that degrades intracellular insulin, and thereby terminates insulins activity, as well as participating in intercellular peptide signalling by degrading diverse peptides such as glucagon, amylin, bradykinin, and kallidin. The preferential affinity of this enzyme for insulin results in insulin-mediated inhibition of the degradation of other peptides such as beta-amyloid. Deficiencies in this protein's function are associated with Alzheimer's disease and type 2 diabetes mellitus but mutations in this gene have not been shown to be causitive for these diseases. This protein localizes primarily to the cytoplasm but in some cell types localizes to the extracellular space, cell membrane, peroxisome, and mitochondrion. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described but have not been experimentally verified.[provided by RefSeq, Sep 2009]., [RefSeq]; This study systematically characterizes IDE mRNAs, identifies a novel, catalytically inefficient splice form and compares its subcellular distribution, kinetic properties and ability to degrade amyloid beta protein to the known isoform., [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": 13, "reported_glycation": 0, "reported_snv": 6, "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": "B2R721;B7ZAU2;D3DR35;Q5T5N2", "ec_number_list": "3.6.1.-;3.6.1.77;3.1.2.2;3.1.2.27;3.1.2.1;3.1.2.11;3.1.2.3;3.1.2.5;6.2.1.3;6.2.1.-;6.2.1.7;6.2.1.24;6.2.1.15;2.3.1.42;1.3.3.6;2.3.2.27;1.1.1.42;1.11.1.6;3.4.23.5;3.4.24.56;1.4.3.3;2.6.1.51;2.6.1.44;2.3.1.176;2.3.1.16;2.3.1.155;2.3.2.36;1.14.13.39;4.1.3.4;2.3.1.137;2.3.1.7;5.3.3.21;2.3.1.65;5.2.1.8;3.4.21.-;1.5.3.13;3.4.19.12;3.4.21.53;3.6.5.-;1.4.3.1;1.1.1.184;1.3.1.38;1.3.1.124;1.1.3.15;1.5.3.1;1.5.3.7;5.1.99.4;4.1.2.63;1.2.3.5;2.5.1.18;3.1.1.29", "go_molecular_function": "GO:0031626 beta-endorphin binding;GO:0004175 endopeptidase activity;GO:0004222 metalloendopeptidase activity;GO:0005524 ATP binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0031597 cytosolic proteasome complex;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "GO:0010992 ubiquitin recycling;GO:1901142 insulin metabolic process;GO:0006508 proteolysis;GO:0032092 positive regulation of protein binding;GO:0050435 amyloid-beta metabolic process", "synthesized_glycan_count": 0, "hit_score": 22.5, "record_id": "P14735-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TEV9-1", "uniprot_id": "SMCR8_HUMAN", "mass": 105022.0, "length": 937, "protein_name": "Guanine nucleotide exchange protein SMCR8", "gene_name": "SMCR8", "organism": "Human", "refseq_name": "guanine nucleotide exchange protein SMCR8", "refseq_ac": "NP_658988", "gene_names_uniprotkb": "SMCR8", "gene_names_refseq": "DENND8A; SMCR8", "protein_names_uniprotkb": "Guanine nucleotide exchange protein SMCR8; Smith-Magenis syndrome chromosomal region candidate gene 8 protein", "protein_names_refseq": "Smith-Magenis syndrome chromosome region, candidate 8; guanine nucleotide exchange protein SMCR8; smith-Magenis syndrome chromosomal region candidate gene 8 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:140775)", "pathway_count": 1, "publication_count": 81, "publication_id_list": "10.1101/2023.09.13.557529;11997338;17081983;18669648;19413330;19651622;19664994;19690332;20562859;21406692;23186163;23248642;23481700;24715725;25576301;25645385;26154972;27103069;27193190;27397612;27559131;27617292;27846572;28195531;28218747;28514659;28649982;28832583;28904123;29242379;29331515;29351928;29393594;29437277;29493099;29508533;29557506;29632711;29786170;30315122;30379171;30429286;30524438;30620550;30779550;30833945;31154438;31217245;31844290;31848261;32157095;32161166;32303654;32357974;32387766;32502341;32678027;32848248;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33912179;33936100;33968037;33981976;34087483;34211107;34357683;35051231;35154160;35561310;35580925;36010968;36215666;36284347;37938771;38064514", "class_list": "", "function": "ALS-linked C9orf72-SMCR8 complex is a negative regulator of primary ciliogenesis., [RefSeq, PubMed]; C9orf72-associated SMCR8 protein binds in the ubiquitin pathway and with proteins linked with neurological disease. Publication Status: Online-Only, [RefSeq, PubMed]; Component of the C9orf72-SMCR8 complex, a complex that has guanine nucleotide exchange factor (GEF) activity and regulates autophagy (PubMed:20562859, PubMed:27103069, PubMed:27193190, PubMed:27559131, PubMed:27617292, PubMed:28195531, PubMed:32303654). In the complex, C9orf72 and SMCR8 probably constitute the catalytic subunits that promote the exchange of GDP to GTP, converting inactive GDP-bound RAB8A and RAB39B into their active GTP-bound form, thereby promoting autophagosome maturation (PubMed:20562859, PubMed:27103069, PubMed:27617292, PubMed:28195531). The C9orf72-SMCR8 complex also acts as a negative regulator of autophagy initiation by interacting with the ULK1/ATG1 kinase complex and inhibiting its protein kinase activity (PubMed:27617292, PubMed:28195531). As part of the C9orf72-SMCR8 complex, stimulates RAB8A and RAB11A GTPase activity in vitro (PubMed:32303654). Acts as a regulator of mTORC1 signaling by promoting phosphorylation of mTORC1 substrates (PubMed:27559131, PubMed:28195531). In addition to its activity in the cytoplasm within the C9orf72-SMCR8 complex, SMCR8 also localizes in the nucleus, where it associates with chromatin and negatively regulates expression of suppresses ULK1 and WIPI2 genes (PubMed:28195531)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Our study not only illustrates the basis of C9ORF72-SMCR8-WDR41 complex assembly but also reveals the GAP activity of the C9ORF72-SMCR8 complex, [RefSeq, PubMed]; Structure of the C9orf72 ARF GAP complex that is haploinsufficient in ALS and FTD., [RefSeq, PubMed]; Study describes the identification of two binding partners for C9orf72: SMCR8 and WDR41 and demonstrated that C9orf72/SMCR8/WDR41 interacts with the FIP200/Ulk1/ATG13/ATG101 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": 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": 12, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 25, "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": "A5PKZ5;Q3ZCN0;Q6PJL3", "ec_number_list": "", "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0019901 protein kinase binding;GO:0004860 protein kinase inhibitor activity;GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0098794 postsynapse;GO:0000785 chromatin;GO:0098793 presynapse", "go_biological_process": "GO:1902902 negative regulation of autophagosome assembly;GO:0006351 DNA-templated transcription;GO:0010506 regulation of autophagy;GO:0010629 negative regulation of gene expression;GO:0006914 autophagy", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "Q8TEV9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q14011-1", "uniprot_id": "CIRBP_HUMAN", "mass": 18648.0, "length": 172, "protein_name": "Cold-inducible RNA-binding protein", "gene_name": "CIRBP", "organism": "Human", "refseq_name": "cold-inducible RNA-binding protein isoform 1", "refseq_ac": "NP_001271", "gene_names_uniprotkb": "CIRBP; A18HNRNP; CIRP", "gene_names_refseq": "CIRBP; CIRP", "protein_names_uniprotkb": "Cold-inducible RNA-binding protein; A18 hnRNP; Glycine-rich RNA-binding protein CIRP", "protein_names_refseq": "A18 hnRNP; cold-inducible RNA-binding protein isoform 1; glycine-rich RNA binding protein; testicular tissue protein Li 39", "tax_id": 9606, "disease": "", "pathway": " (hsa:1153)", "pathway_count": 1, "publication_count": 91, "publication_id_list": "11237011;11574538;15075239;16513844;18669648;20068231;20305658;21740066;23186163;23481700;24715725;25505266;25576301;25810538;25880248;25892735;26154972;26375851;26992070;27600516;27846572;27862975;28228285;28514659;28649982;28832583;28904123;29242379;29331515;29393594;29485866;29493099;29508533;29557506;29632711;29786170;29789417;30192525;30410026;30429286;30484775;30524438;30779550;31154438;31217245;31844290;31848261;31937595;31998317;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33123756;33141586;33214551;33592498;33691108;33717175;33912179;33936100;33981976;34019948;34087483;34171305;34211107;34509645;34932366;35051231;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37938771;38218010;38565387;38847971;38938563;9334257;9434172", "class_list": "", "function": "BMAL2 promotes eCIRP-induced macrophage endotoxin tolerance. Publication Status: Online-Only, [RefSeq, PubMed]; Cold-inducible mRNA binding protein that plays a protective role in the genotoxic stress response by stabilizing transcripts of genes involved in cell survival. Acts as a translational activator. Seems to play an essential role in cold-induced suppression of cell proliferation. Binds specifically to the 3'-untranslated regions (3'-UTRs) of stress-responsive transcripts RPA2 and TXN. Acts as a translational repressor (By similarity). Promotes assembly of stress granules (SGs), when overexpressed., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Extracellular CIRP co-stimulated T cells through IL6R/STAT3 in pediatric IgA vasculitis., [RefSeq, PubMed]; Extracellular CIRP induces abnormal activation of fibroblast-like synoviocytes from patients with RA via the TLR4-mediated HDAC3 pathways., [RefSeq, PubMed]; Genomic analysis uncovers that cold-inducible RNA binding protein is associated with estrogen receptor in 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": 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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KT17;B4E2X2", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0030371 translation repressor activity;GO:0003730 mRNA 3'-UTR binding;GO:0070181 small ribosomal subunit rRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005681 spliceosomal complex;GO:0010494 cytoplasmic stress granule", "go_biological_process": "GO:0009409 response to cold;GO:0048255 mRNA stabilization;GO:0009411 response to UV;GO:0045727 positive regulation of translation;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 9.4, "record_id": "Q14011-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9GZT6-1", "uniprot_id": "CC90B_HUMAN", "mass": 29506.0, "length": 254, "protein_name": "Coiled-coil domain-containing protein 90B, mitochondrial", "gene_name": "CCDC90B", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 90B, mitochondrial isoform c", "refseq_ac": "NP_001273046", "gene_names_uniprotkb": "CCDC90B; CUA003; MDS011; MDS025", "gene_names_refseq": "CCDC90B; MDS011; MDS025", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 90B, mitochondrial", "protein_names_refseq": "coiled-coil domain-containing protein 90B, mitochondrial isoform c; coiled-coil domain-containing protein 90B, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:60492)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "11230166;11237011;11256614;17525332;20877624;23481700;27184846;28218747;28514659;28832583;28904123;29393594;29437277;29493099;30315122;30612859;31844290;32157095;32161166;32350084;32357974;32938616;33298915;33912179;33936100;33968037;34357683;35051231;35251023", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Using MCUR1, the functionally characterized paralog of study the role of individual domains, results find that the conserved head domain in CCDC90B interacts directly with mitochondrial calcium uniporter and is destabilized upon Ca(2+) binding., [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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K8I4;B3KP87;B4E3L2;Q3B781;Q9GZU6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0031966 mitochondrial membrane;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q9GZT6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y2H1-1", "uniprot_id": "ST38L_HUMAN", "mass": 54003.0, "length": 464, "protein_name": "Serine/threonine-protein kinase 38-like", "gene_name": "STK38L", "organism": "Human", "refseq_name": "serine/threonine-protein kinase 38-like", "refseq_ac": "NP_055815", "gene_names_uniprotkb": "STK38L; KIAA0965; NDR2", "gene_names_refseq": "NDR2; STK38L", "protein_names_uniprotkb": "Serine/threonine-protein kinase 38-like; 2.7.11.1; NDR2 protein kinase; Nuclear Dbf2-related kinase 2", "protein_names_refseq": "NDR2 protein kinase; nuclear Dbf2-related 2; nuclear Dbf2-related kinase 2; serine/threonine-protein kinase 38-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:23012)", "pathway_count": 1, "publication_count": 76, "publication_id_list": "10513815;11237011;11875071;15037617;15067004;15104674;15582665;15944288;16314523;17308301;17344846;20068231;22645359;23481700;24714562;24715725;25418920;25469497;25645385;25880248;26154972;26811146;26929215;26992070;27846572;27920218;28063628;28218747;28228285;28514659;28649982;28832583;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30429286;31217245;31844290;31848261;32157095;32265295;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33633747;33691108;33912179;33936100;33968037;33981976;34171305;34357683;34561969;34932366;35051231;35318648;35580925;35670107;36010968;36241641;38092743", "class_list": "", "function": "Hypoxia-induced activation of NDR2 underlies brain metastases from Non-Small Cell Lung Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in the regulation of structural processes in differentiating and mature neuronal cells., [UniProtKB, PubMed, PubMed]; NDR1 and NDR2 serine-threonine kinases are regulated by mob proteins, [RefSeq, PubMed]; TRIM27 cooperates with STK38L to inhibit ULK1-mediated autophagy and promote tumorigenesis., [RefSeq, PubMed]; The NDR1 and NDR2 kinases were incorporated into HIV-1 particles and were cleaved by the HIV-1 protease., [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": 7, "reported_mutagensis": 4, "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": "A8K4U0;B4E3J8;Q8TBX7", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0003779 actin binding;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0015629 actin cytoskeleton;GO:0016020 membrane", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0035556 intracellular signal transduction;GO:0010507 negative regulation of autophagy;GO:0051128 regulation of cellular component organization;GO:0009892 negative regulation of metabolic process", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q9Y2H1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P49770-1", "uniprot_id": "EI2BB_HUMAN", "mass": 38990.0, "length": 351, "protein_name": "Translation initiation factor eIF2B subunit beta", "gene_name": "EIF2B2", "organism": "Human", "refseq_name": "translation initiation factor eIF2B subunit beta", "refseq_ac": "NP_055054", "gene_names_uniprotkb": "EIF2B2; EIF2BB", "gene_names_refseq": "EIF-2Bbeta; EIF2B2; EIF2Bbeta; EIF2B; VWM2", "protein_names_uniprotkb": "Translation initiation factor eIF2B subunit beta; S20I15; S20III15; eIF2B GDP-GTP exchange factor subunit beta", "protein_names_refseq": "S20I15; S20III15; eIF-2B GDP-GTP exchange factor subunit beta; eIF2B GDP-GTP exchange factor subunit beta; eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa; translation initiation factor eIF-2B subunit beta; translation initiation factor eIF2B subunit beta", "tax_id": 9606, "disease": "Peters anomaly (Disease Ontology:DOID:0060673); leukoencephalopathy with vanishing white matter (Disease Ontology:DOID:0060868); leukoencephalopathy with vanishing white matter 2 (Disease Ontology:DOID:0070373); foveal hypoplasia 1 (Disease Ontology:DOID:0070530); aniridia 1 (Disease Ontology:DOID:0070532); anterior segment dysgenesis 5 (Disease Ontology:DOID:0080610); cataract 27 (Disease Ontology:DOID:0110233); autosomal dominant keratitis (Disease Ontology:DOID:0111383); bilateral optic nerve hypoplasia (Disease Ontology:DOID:0111531); glucose intolerance (Disease Ontology:DOID:10603); microphthalmia (Disease Ontology:DOID:10629); juvenile glaucoma (Disease Ontology:DOID:1068); coloboma of optic nerve (Disease Ontology:DOID:11975); aniridia (Disease Ontology:DOID:12271); paranoid schizophrenia (Disease Ontology:DOID:1229); autistic disorder (Disease Ontology:DOID:12849); Smith-Lemli-Opitz syndrome (Disease Ontology:DOID:14692); transient cerebral ischemia (Disease Ontology:DOID:224); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); cataract (Disease Ontology:DOID:83); type 2 diabetes mellitus (Disease Ontology:DOID:9352); congenital nystagmus (Disease Ontology:DOID:9649)", "pathway": " (hsa:8892); (R-HSA-72731)", "pathway_count": 2, "publication_count": 65, "publication_id_list": "11237011;11704758;12707859;14978097;15776425;20068231;21484434;22285377;22729508;23481700;24714562;2491852;25576301;25802875;25858979;25892735;26375851;26740508;26992070;27023709;27058226;28228285;28514659;28832583;28834231;28904123;29242379;29493099;29508533;29557506;30315122;30429286;30524438;30779550;30833945;31048492;31217245;31530632;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32488085;32502341;32897882;32938616;33334879;3356695;33691108;33717175;33936100;33968037;33981976;34087483;34171305;35051231;35318648;35561310;35580925;36241641;37938771;7596406", "class_list": "", "function": "Acts as a component of the translation initiation factor 2B (eIF2B) complex, which catalyzes the exchange of GDP for GTP on eukaryotic initiation factor 2 (eIF2) gamma subunit (PubMed:25858979, PubMed:27023709, PubMed:31048492). Its guanine nucleotide exchange factor activity is repressed when bound to eIF2 complex phosphorylated on the alpha subunit, thereby limiting the amount of methionyl-initiator methionine tRNA available to the ribosome and consequently global translation is repressed (PubMed:25858979, PubMed:31048492)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Mutational analysis of the alpha subunit of eIF2B provides insights into the role of eIF2B bodies in translational control and VWM disease., [RefSeq, PubMed]; This gene encodes the beta subunit of eukaryotic initiation factor-2B (EIF2B). EIF2B is involved in protein synthesis and exchanges GDP and GTP for its activation and deactivation. [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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "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": "O43201", "ec_number_list": "", "go_molecular_function": "GO:0005524 ATP binding;GO:0005525 GTP binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0003743 translation initiation factor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005851 eukaryotic translation initiation factor 2B complex", "go_biological_process": "GO:0002183 cytoplasmic translational initiation;GO:0042552 myelination;GO:0050852 T cell receptor signaling pathway;GO:0007417 central nervous system development;GO:0006413 translational initiation", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "P49770-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6IA69-1", "uniprot_id": "NADE_HUMAN", "mass": 79285.0, "length": 706, "protein_name": "Glutamine-dependent NAD(+) synthetase", "gene_name": "NADSYN1", "organism": "Human", "refseq_name": "glutamine-dependent NAD(+) synthetase", "refseq_ac": "NP_060631", "gene_names_uniprotkb": "NADSYN1", "gene_names_refseq": "NADSYN1; VCRL3", "protein_names_uniprotkb": "Glutamine-dependent NAD(+) synthetase; 6.3.5.1; NAD(+) synthase [glutamine-hydrolyzing]; NAD(+) synthetase", "protein_names_refseq": "NAD(+) synthase; NAD(+) synthetase; glutamine-dependent NAD synthetase; glutamine-dependent NAD(+) synthetase", "tax_id": 9606, "disease": "high grade glioma (Disease Ontology:DOID:3070); vertebral, cardiac, renal, and limb defects syndrome 3 (MONDO:MONDO:0030077)", "pathway": " (hsa:55191); (R-HSA-196807)", "pathway_count": 2, "publication_count": 106, "publication_id_list": "10331643;10613898;11237011;11248244;11594753;11788603;11866528;11991719;12359228;12547821;12574164;12790796;13563527;14516279;14966140;15090606;15137942;15381699;15674325;16118205;1637327;16690024;17402747;17604275;17641676;17868694;17914902;18411268;19531469;20388704;2129526;21504897;21699903;21933152;21994945;22701565;22822066;23212377;23230272;23481700;24366607;24715725;24717514;24847004;25418920;25531177;25576301;25645385;25892735;26154972;26929215;26992070;27920218;28228285;28832583;28834231;28855257;28904123;29242379;29393594;29493099;29769354;30315122;31092671;31530632;31844290;31883644;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32906142;32938288;32938616;32983136;33087354;33123756;33141586;33298915;33592498;33691108;33717175;33912179;33968037;34171305;34509645;34681008;34932366;35051231;35491967;35494241;35580925;36241641;36951206;38253038;38357931;4349867;8182091;8289818;8527488;8575745;8809081;9473669", "class_list": "", "function": "A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder. Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the final step of the nicotinamide adenine dinucleotide (NAD) de novo synthesis pathway, the ATP-dependent amidation of deamido-NAD using L-glutamine as a nitrogen source., [UniProtKB, PubMed, PubMed]; Clinical heterogeneity of NADSYN1-associated VCRL syndrome., [RefSeq, PubMed]; Disruptive NADSYN1 Variants Implicated in Congenital Vertebral Malformations. Publication Status: Online-Only, [RefSeq, PubMed]; Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies., [RefSeq, PubMed]; Genetic variants of vitamin D metabolism-related DHCR7/NADSYN1 locus and CYP2R1 gene are associated with clinical features of Parkinson's disease., [RefSeq, PubMed]; Nicotinamide adenine dinucleotide (NAD) is a coenzyme in metabolic redox reactions, a precursor for several cell signaling molecules, and a substrate for protein posttranslational modifications. NAD synthetase (EC 6.3.5.1) catalyzes the final step in the biosynthesis of NAD from nicotinic acid adenine dinucleotide (NaAD).[supplied by OMIM, Apr 2004]., [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": 22, "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": "B3KUU4;Q86SN2;Q9HA25;Q9NVM8", "ec_number_list": "6.3.5.1", "go_molecular_function": "GO:0005524 ATP binding;GO:0003952 NAD+ synthase (glutamine-hydrolyzing) activity;GO:0004359 glutaminase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0009435 NAD+ biosynthetic process;GO:0034354 'de novo' NAD+ biosynthetic process from L-tryptophan;GO:0034355 NAD+ biosynthetic process via the salvage pathway", "synthesized_glycan_count": 0, "hit_score": 10.9, "record_id": "Q6IA69-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BXT2-1", "uniprot_id": "CCG6_HUMAN", "mass": 28129.0, "length": 260, "protein_name": "Voltage-dependent calcium channel gamma-6 subunit", "gene_name": "CACNG6", "organism": "Human", "refseq_name": "voltage-dependent calcium channel gamma-6 subunit isoform c", "refseq_ac": "NP_114103", "gene_names_uniprotkb": "CACNG6", "gene_names_refseq": "CACNG6", "protein_names_uniprotkb": "Voltage-dependent calcium channel gamma-6 subunit; Neuronal voltage-gated calcium channel gamma-6 subunit", "protein_names_refseq": "calcium channel, voltage-dependent, gamma subunit 6; neuronal voltage-gated calcium channel gamma-6 subunit; voltage-dependent calcium channel gamma-6 subunit isoform c; voltage-dependent calcium channel gamma-6 subunit", "tax_id": 9606, "disease": "aspirin-induced respiratory disease (Disease Ontology:DOID:0080822)", "pathway": " (hsa:59285); (R-HSA-5576892); (R-HSA-5576893)", "pathway_count": 3, "publication_count": 23, "publication_id_list": "10646604;11170751;11237011;11290418;11738816;1309946;14500339;15000524;18093912;18184654;19406745;20860846;21127204;21566136;21817159;22054663;22514276;23804213;24591645;25966690;27102562;29393594;8107964", "class_list": "", "function": "CACNG6 variants might be associated with the risk of aspirin-intolerant asthma in a Korean population. GeneRIF: Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit., [UniProtKB, UniProtKB, UniProtKB, PubMed]; These results indicate that CACNG4, CACNG5, CACNG6 and CACNG8 may contribute to the risk of SCZ. The statistical epistasis identified between CACNG5 and CACNG6 suggests that there may be an underlying biological interaction between the two genes. Publication Status: Online-Only, [RefSeq, PubMed]; Voltage-dependent calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of two known gamma subunit proteins. This particular gamma subunit is an integral membrane protein that is thought to stabilize the calcium channel in an inactive (closed) state. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members that function as transmembrane AMPA receptor regulatory proteins (TARPs). Alternative splicing results in multiple transcript variants. Variants in this gene have been associated with aspirin-intolerant asthma. [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": 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:0005246 calcium channel regulator activity;GO:0005245 voltage-gated calcium channel activity;GO:0005262 calcium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:1990454 L-type voltage-gated calcium channel complex;GO:0005891 voltage-gated calcium channel complex;GO:0034702 monoatomic ion channel complex;GO:0016020 membrane", "go_biological_process": "GO:0006816 calcium ion transport;GO:1902514 regulation of calcium ion transmembrane transport via high voltage-gated calcium channel", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q9BXT2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P48449-1", "uniprot_id": "LSS_HUMAN", "mass": 83309.0, "length": 732, "protein_name": "Lanosterol synthase", "gene_name": "LSS", "organism": "Human", "refseq_name": "lanosterol synthase isoform 1", "refseq_ac": "NP_001001438", "gene_names_uniprotkb": "LSS; OSC", "gene_names_refseq": "APMR4; CTRCT44; HYPT14; LSS; OSC", "protein_names_uniprotkb": "Lanosterol synthase; 2,3-epoxysqualene--lanosterol cyclase; 5.4.99.7; OSC; Oxidosqualene--lanosterol cyclase; hOSC", "protein_names_refseq": "2,3-epoxysqualene-lanosterol cyclase; epididymis secretory sperm binding protein; hOSC; lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase); lanosterol synthase isoform 1; oxidosqualene--lanosterol cyclase", "tax_id": 9606, "disease": "hypotrichosis 14 (Disease Ontology:DOID:0080582); alopecia-mental retardation syndrome 4 (Disease Ontology:DOID:0080950); cataract 44 (Disease Ontology:DOID:0110267); cataract (Disease Ontology:DOID:83)", "pathway": " (hsa:4047); (R-HSA-2426168); (R-HSA-9969896)", "pathway_count": 3, "publication_count": 155, "publication_id_list": "10026212;10400691;10598817;10620343;10666321;10759542;10896663;11160603;11237011;11414710;12083769;12177166;12764144;1377680;14729858;14730012;14766201;15525992;16464866;16519518;16684881;17449569;17925399;18327899;18559965;18654640;18682402;18726356;18937434;1968462;20068231;20112406;20138239;20394422;20450493;20719759;20937905;21420384;22634312;23328677;24366607;24715725;25418920;25502872;25505266;25576301;25892735;26154972;26200341;26375851;26811146;26929215;26992070;27600516;27846572;27893789;27920218;28063628;28218747;28228285;28467828;28649982;28832583;28834231;28855257;28904123;29016354;29242379;29314611;29393594;29437277;29508533;29557506;29632046;29769354;29774024;30315122;30401459;30410026;30484775;30573663;30723320;30779550;31020640;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32877255;32938616;32983136;33222230;33246356;33298915;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34318586;34357683;34433824;34561969;34725712;34932366;35051231;35154160;35251023;35318648;35580925;36010968;36215666;36241641;36284347;37628669;37938771;38665916;5918048;7567999;7592729;7639730;7732023;7909540;7911016;7913309;8020941;8593458;8619637;8626466;8626488;8647822;8655142;8663599;8798690;8806705;8976377;9099716;9380443;9604010;9634533;9741684;9748295", "class_list": "", "function": "Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes., [RefSeq, PubMed]; Key enzyme in the cholesterol biosynthesis pathway. Catalyzes the cyclization of (S)-2,3 oxidosqualene to lanosterol, a reaction that forms the sterol nucleus (PubMed:14766201, PubMed:26200341, PubMed:7639730). Through the production of lanosterol may regulate lens protein aggregation and increase transparency (PubMed:26200341)., [UniProtKB, PubMed, PubMed, PubMed]; LSS rs2254524 Increases the Risk of Hypertension in Children and Adolescents with Obesity. Publication Status: Online-Only, [RefSeq, PubMed]; Novel mutations in Chinese hypotrichosis simplex patients associated with LSS gene., [RefSeq, PubMed]; The Polymorphism rs2968 of LSS Gene Confers Susceptibility to Age-Related Cataract., [RefSeq, PubMed]; The protein encoded by this gene catalyzes the conversion of (S)-2,3 oxidosqualene to lanosterol. The encoded protein is a member of the terpene cyclase/mutase family and catalyzes the first step in the biosynthesis of cholesterol, steroid hormones, and vitamin D. Alternative splicing results in multiple transcript variants encoding different isoforms.[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": 8, "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": "B4DJZ9;D3DSN0;E9PEI9;G5E9Q9;Q8IYL6;Q9UEZ1", "ec_number_list": "5.4.99.7", "go_molecular_function": "GO:0000250 lanosterol synthase activity;GO:0016866 intramolecular transferase activity;GO:0031559 oxidosqualene cyclase activity", "go_cellular_component": "GO:0098554 cytoplasmic side of endoplasmic reticulum membrane;GO:0005811 lipid droplet;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006695 cholesterol biosynthetic process;GO:0031647 regulation of protein stability;GO:0006694 steroid biosynthetic process;GO:0033489 cholesterol biosynthetic process via desmosterol;GO:0033490 cholesterol biosynthetic process via lathosterol", "synthesized_glycan_count": 0, "hit_score": 15.8, "record_id": "P48449-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WY64-1", "uniprot_id": "MYLIP_HUMAN", "mass": 49910.0, "length": 445, "protein_name": "E3 ubiquitin-protein ligase MYLIP", "gene_name": "MYLIP", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase MYLIP isoform 1", "refseq_ac": "NP_037394", "gene_names_uniprotkb": "MYLIP; BM-023; BZF1; IDOL; PP5242", "gene_names_refseq": "IDOL; MIR; MYLIP", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase MYLIP; 2.3.2.27; Idol; Inducible degrader of the LDL-receptor; MIR; Myosin regulatory light chain interacting protein; RING-type E3 ubiquitin transferase MYLIP", "protein_names_refseq": "E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor; E3 ubiquitin-protein ligase MYLIP isoform 1; E3 ubiquitin-protein ligase MYLIP; RING-type E3 ubiquitin transferase MYLIP; band 4.1 superfamily member BZF1; cellular modulator of immune recognition (c-MIR); inducible degrader of the LDL-receptor", "tax_id": 9606, "disease": "neurodegenerative disease (Disease Ontology:DOID:1289)", "pathway": " (hsa:29116); (R-HSA-8866427); (R-HSA-9031525); (R-HSA-983168)", "pathway_count": 4, "publication_count": 100, "publication_id_list": "10593918;11062501;11237011;11350924;12646216;12826659;14550572;14734113;15224091;15224092;15498874;15571818;16595681;16849449;16954532;17452316;18039658;18662542;19028597;19352404;19452197;19489725;19520913;19851334;19874575;19940261;20427281;21273557;21685362;21734303;22109552;22510808;2261476;22936343;23481700;25576301;25645385;25892735;26154972;26375851;26992070;27600516;27846572;27862975;28228285;28832583;28834231;28855257;29242379;29393594;29493099;29557506;29632711;29769354;29786170;29789417;30315122;30429286;30524438;30779550;31154438;31217245;31844290;32157095;32265295;32357974;32373127;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33185588;33298915;33392160;33450693;33537174;33592498;33717175;33845890;33912179;33936100;33968037;34087483;34185709;34932366;35051231;35318648;35561310;35580925;36010968;36241641;36284347;37047406;37094639;37938771;9380723;9668046", "class_list": "", "function": "E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of myosin regulatory light chain (MRLC), LDLR, VLDLR and LRP8. Activity depends on E2 enzymes of the UBE2D family. Proteasomal degradation of MRLC leads to inhibit neurite outgrowth in presence of NGF by counteracting the stabilization of MRLC by saposin-like protein (CNPY2/MSAP) and reducing CNPY2-stimulated neurite outgrowth. Acts as a sterol-dependent inhibitor of cellular cholesterol uptake by mediating ubiquitination and subsequent degradation of LDLR., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Effect of type 2 diabetes on the inducible degrader of LDL receptor., [RefSeq, PubMed]; Genetic polymorphism of IDOL gene was associated with the susceptibility of coronary artery disease in Han population in Xinjiang, China. Erratum:[Hereditas. 2021 Jun 5;158(1):19. doi: 10.1186/s41065-021-00185-x. PMID: 34090523] Publication Status: Online-Only, [RefSeq, PubMed]; Identification of MYLIP gene and miRNA-802 involved in the growth and metastasis of cervical cancer cells., [RefSeq, PubMed]; MSAP interacts with this protein that enhances neurite outgrowth and increases myosin regulatory light chain in fetal and adult brain., [RefSeq, PubMed]; Mouse Spinal Cord Vascular Transcriptome Analysis Identifies CD9 and MYLIP as Injury-Induced Players. Publication Status: Online-Only, [RefSeq, PubMed]; Novel associations of SNPs MYLIP rs3757354 and ABCA1 2230806 gene with early-onset-preeclampsia: A case-control candidate genetic study., [RefSeq, PubMed]; The ERM protein family members ezrin, radixin, and moesin are cytoskeletal effector proteins linking actin to membrane-bound proteins at the cell surface. Myosin regulatory light chain interacting protein (MYLIP) is a novel ERM-like protein that interacts with myosin regulatory light chain and inhibits neurite outgrowth. [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": 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": "Q5TIA4;Q9BU73;Q9NRL9;Q9UHE7", "ec_number_list": "2.3.2.24;2.3.2.23;2.3.2.26;2.3.2.27;2.3.2.31;2.3.2.-;6.2.1.-;2.3.2.34;2.3.2.32;3.6.4.-;2.3.2.25;2.3.2.36;2.7.11.1", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0008092 cytoskeletal protein binding;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005737 cytoplasm", "go_biological_process": "GO:0007399 nervous system development;GO:0010977 negative regulation of neuron projection development;GO:0042632 cholesterol homeostasis;GO:0010989 negative regulation of low-density lipoprotein particle clearance;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "Q8WY64-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0C0L5-1", "uniprot_id": "CO4B_HUMAN", "mass": 192751.0, "length": 1744, "protein_name": "Complement C4-B", "gene_name": "C4B_2; C4B", "organism": "Human", "refseq_name": "complement C4-B preproprotein", "refseq_ac": "NP_001002029", "gene_names_uniprotkb": "C4B_2; C4B; C4B; CO4; CPAMD3", "gene_names_refseq": "C4B12; C4B1; C4B3; C4B5; C4BD; C4B; C4F; CH; CO4; CPAMD3", "protein_names_uniprotkb": "Complement C4-B; Basic complement C4; C3 and PZP-like alpha-2-macroglobulin domain-containing protein 3", "protein_names_refseq": "C3 and PZP-like alpha-2-macroglobulin domain-containing protein 3; Chido form of C4; basic complement C4; complement C4-B preproprotein; complement C4-B; complement C4B (Chido blood group); complement C4B1a; complement component 4B (Chido blood group)", "tax_id": 9606, "disease": "complement component 4b deficiency (Disease Ontology:DOID:0060298); Graves' disease (Disease Ontology:DOID:12361); autistic disorder (Disease Ontology:DOID:12849); renal cell carcinoma (Disease Ontology:DOID:4450); rheumatoid arthritis (Disease Ontology:DOID:7148); systemic lupus erythematosus (Disease Ontology:DOID:9074)", "pathway": " (hsa:100293534); (hsa:721); (R-HSA-166663); (R-HSA-174577); (R-HSA-977606); (R-HSA-9920588)", "pathway_count": 6, "publication_count": 115, "publication_id_list": "10.1021/acs.analchem.6b02887;10092831;10531307;1067618;10925294;11237011;11367523;11694537;11939578;12055245;12396008;12754519;12878586;1386357;14280442;14760718;14989716;15199963;16079145;16192651;16740002;1699796;16999828;17182573;17503323;17505110;17989688;18496526;19754307;21566123;21788512;22802338;23090970;23487775;2395880;24173023;24190977;2420889;2431902;2465906;2466593;2481448;26814963;26992070;27832191;28035807;28467828;28764923;293688;293746;2956252;29649283;29671580;2971659;2972794;29741879;301546;30237853;30550790;31492838;31867016;32065623;32125861;32152943;32432721;3265961;32769120;32778820;32938616;33043033;34357683;34725484;35017157;35898513;36127336;3696167;37105991;3848661;3944109;4098172;6019133;6167582;6214588;6219696;6222381;6230668;6238120;6334079;6454142;6546707;6607952;670886;6832377;6906228;6950384;6978711;702059;70787;7391570;7391573;7542572;760802;761607;7690834;7691959;8175757;8345200;8495193;8538770;8575831;8786315;9038722;9171898;9759862;978134", "class_list": "", "function": "Cryo-EM structures of Trypanosoma brucei gambiense ISG65 with human complement C3 and C3b and their roles in alternative pathway restriction. Publication Status: Online-Only, [RefSeq, PubMed]; Non-enzymatic component of C3 and C5 convertases (By similarity). Generated following cleavage by complement proteases (C1S, MASP2 or GZMK, depending on the complement pathway), it covalently attaches to the surface of pathogens, where it acts as an opsonin that marks the surface of antigens for removal (By similarity). It then recruits the serine protease complement C2b to form the C3 and C5 convertases, which cleave and activate C3 and C5, respectively, the next components of the complement pathways (PubMed:8538770). Complement C4b-B isotype catalyzes the transacylation of the thioester carbonyl group to form ester bonds with carbohydrate antigens, while C4b-A isotype is responsible for effective binding to form amide bonds with immune aggregates or protein antigens (PubMed:8538770)., [UniProtKB, UniProtKB, PubMed]; Plasma Complement 3 and Complement 4 Are Promising Biomarkers for Distinguishing NMOSD From MOGAD and Are Associated With the Blood-Brain-Barrier Disruption in NMOSD. Publication Status: Online-Only, [RefSeq, PubMed]; Precursor of non-enzymatic components of the classical, lectin and GZMK complement pathways, which consist in a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive immune system., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Putative humoral mediator released following cleavage by complement proteases (C1S, MASP2 or GZMK, depending on the complement pathway). While it is strongly similar to anaphylatoxins, its role is unclear. Was reported to act as a mediator of local inflammatory process; however these effects were probably due to contamination with C3a and/C5a anaphylatoxins in biological assays., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Serum complement component 3, complement component 4 and complement component 1q levels predict progressive visual field loss in older women with primary angle closure glaucoma., [RefSeq, PubMed]; This gene encodes the basic form of complement factor 4, and together with the C4A gene, is part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. In addition, this gene exists as a long form and a short form due to the presence or absence of a 6.4 kb endogenous HERV-K retrovirus in intron 9. [provided by RefSeq, May 2020]., [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": 4, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "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": 1, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 40, "disease_count": 6, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "A2BHY4;P01028;P78445;Q13160;Q13906;Q14033;Q14835;Q6U2E9;Q6U2G1;Q6U2I5;Q6U2L1;Q6U2L7;Q6U2L9;Q6U2M5;Q6VCV8;Q96SA7;Q9NPK5;Q9UIP5", "ec_number_list": "", "go_molecular_function": "GO:0004866 endopeptidase inhibitor activity;GO:0030246 carbohydrate binding;GO:0001848 complement binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0030424 axon", "go_biological_process": "GO:0006954 inflammatory response;GO:0006958 complement activation, classical pathway;GO:0006956 complement activation;GO:2000427 positive regulation of apoptotic cell clearance;GO:0008228 opsonization", "synthesized_glycan_count": 0, "hit_score": 16.4, "record_id": "P0C0L5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q02548-1", "uniprot_id": "PAX5_HUMAN", "mass": 42149.0, "length": 391, "protein_name": "Paired box protein Pax-5", "gene_name": "PAX5", "organism": "Human", "refseq_name": "paired box protein Pax-5 isoform 2", "refseq_ac": "NP_001267476", "gene_names_uniprotkb": "PAX5", "gene_names_refseq": "ALL3; BSAP; PAX-5; PAX5", "protein_names_uniprotkb": "Paired box protein Pax-5; B-cell-specific transcription factor; BSAP", "protein_names_refseq": "B-cell lineage specific activator; paired box homeotic gene 5; paired box protein Pax-5 isoform 2; paired box protein Pax-5; paired domain gene 5; transcription factor PAX 5", "tax_id": 9606, "disease": "acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:5079); (R-HSA-8939245)", "pathway_count": 2, "publication_count": 52, "publication_id_list": "10197586;10207087;10455134;10811620;11237011;11779502;14970218;1516825;15385562;17344859;19725825;22593617;23481700;23678172;24013638;24366607;24715725;25576301;25880248;25892735;27181361;28514659;28832583;29242379;29557506;29769354;31154438;31217245;31530632;31844290;31848261;31941781;32357974;32502341;32612238;32897882;32983136;33298915;33691108;33912179;34211107;34932366;35051231;35561310;35580925;36064939;37335685;38318177;38866979;39097885;39183332;9742255", "class_list": "", "function": "(Microbial infection) Plays an essential role in the maintenance of Epstein-Barr virus genome copy number within the host cell by promoting EBNA1/oriP-dependent binding and transcription (PubMed:31941781). Also participates in the inhibition of lytic EBV reactivation by modulating viral BZLF1 activity (PubMed:23678172)., [UniProtKB, PubMed, PubMed]; Diagnostic efficacy of SEPT9 and PAX5 gene methylation in gastrointestinal cancer and precancerous lesions. Publication Status: Online-Only, [RefSeq, PubMed]; EBF1, PAX5, and MYC: regulation on B cell development and association with hematologic neoplasms. Review article Publication Status: Online-Only, [RefSeq, PubMed]; PAX5 fusion genes in acute lymphoblastic leukemia: A literature review. Review article, [RefSeq, PubMed]; The transcription factor PAX5 activates human LINE1 retrotransposons to induce cellular senescence., [RefSeq, PubMed]; This gene encodes a member of the paired box (PAX) family of transcription factors. The central feature of this gene family is a novel, highly conserved DNA-binding motif, known as the paired box. Paired box transcription factors are important regulators in early development, and alterations in the expression of their genes are thought to contribute to neoplastic transformation. This gene encodes the B-cell lineage specific activator protein that is expressed at early, but not late stages of B-cell differentiation. Its expression has also been detected in developing CNS and testis and so the encoded protein may also play a role in neural development and spermatogenesis. This gene is located at 9p13, which is involved in t(9;14)(p13;q32) translocations recurring in small lymphocytic lymphomas of the plasmacytoid subtype, and in derived large-cell lymphomas. This translocation brings the potent E-mu enhancer of the IgH gene into close proximity of the PAX5 promoter, suggesting that the deregulation of transcription of this gene contributes to the pathogenesis of these lymphomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]., [RefSeq]; Transcription factor that plays an essential role in commitment of lymphoid progenitors to the B-lymphocyte lineage (PubMed:10811620, PubMed:27181361). Fulfills a dual role by repressing B-lineage inappropriate genes and simultaneously activating B-lineage-specific genes (PubMed:10811620, PubMed:27181361). In turn, regulates cell adhesion and migration, induces V(H)-to-D(H)J(H) recombination, facilitates pre-B-cell receptor signaling and promotes development to the mature B-cell stage (PubMed:32612238). Repression of the cohesin-release factor WAPL causes global changes of the chromosomal architecture in pro-B cells to facilitate the generation of a diverse antibody repertoire (PubMed:32612238)., [UniProtKB, PubMed, PubMed, PubMed]; Understanding the function of Pax5 in development of docetaxel-resistant neuroendocrine-like prostate cancers. 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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 43, "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": "A3QVP6;A3QVP7;A3QVP8;C0KTF6;C0KTF7;C0KTF8;C0KTF9;C0KTG0;O75933;Q5SFM2;Q6S728;Q6S729;Q6S730;Q6S731;Q6S732", "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:0003677 DNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0007283 spermatogenesis;GO:0007399 nervous system development;GO:0030183 B cell differentiation;GO:0006366 transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q02548-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UHC6-1", "uniprot_id": "CNTP2_HUMAN", "mass": 148167.0, "length": 1331, "protein_name": "Contactin-associated protein-like 2", "gene_name": "CNTNAP2", "organism": "Human", "refseq_name": "contactin-associated protein-like 2 precursor", "refseq_ac": "NP_054860", "gene_names_uniprotkb": "CNTNAP2; CASPR2; KIAA0868", "gene_names_refseq": "AUTS15; CASPR2; CDFE; CNTNAP2; NRXN4; PTHSL1", "protein_names_uniprotkb": "Contactin-associated protein-like 2; Cell recognition molecule Caspr2", "protein_names_refseq": "cell recognition molecule Caspr2; contactin associated protein like 2; contactin-associated protein-like 2 precursor; homolog of Drosophila neurexin IV", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); specific language impairment (Disease Ontology:DOID:0060244); autosomal recessive intellectual developmental disorder (Disease Ontology:DOID:0060308); cortical dysplasia-focal epilepsy syndrome (Disease Ontology:DOID:0090130); social phobia (Disease Ontology:DOID:11257); autistic disorder (Disease Ontology:DOID:12849); reading disorder (Disease Ontology:DOID:13365); major depressive disorder (Disease Ontology:DOID:1470); epilepsy (Disease Ontology:DOID:1826); articulation disorder (Disease Ontology:DOID:4186); mutism (Disease Ontology:DOID:4189); schizophrenia (Disease Ontology:DOID:5419); autism, susceptibility to, 15 (MONDO:MONDO:0012801)", "pathway": " (hsa:26047)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "10624965;11237011;11352571;16571880;18179895;19413330;19896112;25977097;26768311;28855257;29557506;31844290;32157095;33238150;33592498;34171305;35051231;35580925;36010968;37001843;37183190;37805811;37938771;38315301;38386048", "class_list": "", "function": "Bilateral temporal lobe dysplasia and seizure onset associated with biallelic CNTNAP2 variants., [RefSeq, PubMed]; Different pain phenotypes are associated with anti-Caspr2 autoantibodies., [RefSeq, PubMed]; Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder. Review article, [RefSeq, PubMed]; Loss of CNTNAP2 Alters Human Cortical Excitatory Neuron Differentiation and Neural Network Development., [RefSeq, PubMed]; Novel and known minor alleles of CNTNAP2 gene variants are associated with comorbidity of intellectual disability and epilepsy phenotypes: a case-control association study reveals potential biomarkers. Publication Status: Online-Only, [RefSeq, PubMed]; Required for gap junction formation (Probable). Required, with CNTNAP1, for radial and longitudinal organization of myelinated axons. Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Demarcates the juxtaparanodal region of the axo-glial junction., [UniProtKB, UniProtKB, PubMed]; This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, thrombospondin N-terminal-like domains and a putative PDZ binding site. This protein is localized at the juxtaparanodes of myelinated axons, and mediates interactions between neurons and glia during nervous system development and is also involved in localization of potassium channels within differentiating axons. This gene encompasses almost 1.5% of chromosome 7 and is one of the largest genes in the human genome. It is directly bound and regulated by forkhead box protein P2, a transcription factor related to speech and language development. This gene has been implicated in multiple neurodevelopmental disorders, including Gilles de la Tourette syndrome, schizophrenia, epilepsy, autism, ADHD and intellectual disability. [provided by RefSeq, Jul 2017]., [RefSeq]", "predicted_glycosites": 12, "predicted_n_glycosites": 12, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 129, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 13, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "D3DWG2;Q14DG2;Q52LV1;Q5H9Q7;Q9UQ12", "ec_number_list": "", "go_molecular_function": "GO:0002020 protease binding;GO:0019899 enzyme binding;GO:0044325 transmembrane transporter binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0005769 early endosome;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007165 signal transduction;GO:0007399 nervous system development;GO:0007612 learning;GO:0008283 cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q9UHC6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96NU0-1", "uniprot_id": "CNT3B_HUMAN", "mass": 140415.0, "length": 1288, "protein_name": "Contactin-associated protein-like 3B", "gene_name": "CNTNAP3B", "organism": "Human", "refseq_name": "contactin-associated protein-like 3B precursor", "refseq_ac": "NP_001188309", "gene_names_uniprotkb": "CNTNAP3B; CASPR3B", "gene_names_refseq": "CNTNAP3B", "protein_names_uniprotkb": "Contactin-associated protein-like 3B; Cell recognition molecule Caspr3b", "protein_names_refseq": "cell recognition molecule Caspr3b; contactin associated protein like 3B; contactin-associated protein-like 3B precursor", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); autosomal recessive intellectual developmental disorder (Disease Ontology:DOID:0060308)", "pathway": " (hsa:728577)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "10.1101/2023.09.13.557529;11237011;15820314;25645385;27543614;27600516;28834231;29351928;29393594;30429286;30779550;32157095;33141586;33968037;34171305;35051231;35580925;36581221;37217939;37938771", "class_list": "", "function": "", "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": 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": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 40, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 2, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A0A087WUH3;B1B0V7;B1B0V8;B1B0V9;B1B0W0;B1B0X8;B1B162;Q4VXF0;Q9H7W3", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0045202 synapse;GO:0016020 membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007165 signal transduction;GO:0007399 nervous system development", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q96NU0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q2KHM9-1", "uniprot_id": "MOONR_HUMAN", "mass": 109407.0, "length": 967, "protein_name": "Protein moonraker", "gene_name": "KIAA0753", "organism": "Human", "refseq_name": "protein moonraker isoform 1", "refseq_ac": "NP_055619", "gene_names_uniprotkb": "KIAA0753; MNR; OFIP", "gene_names_refseq": "JBTS38; KIAA0753; MNR; OFIP; SRTD21", "protein_names_uniprotkb": "Protein moonraker; MNR; OFD1- and FOPNL-interacting protein", "protein_names_refseq": "OFD1 and FOPNL interacting protein; OFD1 and FOR20 interacting protein; protein moonraker isoform 1; protein moonraker", "tax_id": 9606, "disease": "asphyxiating thoracic dystrophy (Disease Ontology:DOID:0050592); Joubert syndrome (Disease Ontology:DOID:0050777); ciliopathy (Disease Ontology:DOID:0060340); orofaciodigital syndrome (Disease Ontology:DOID:4501); orofaciodigital syndrome XV (MONDO:MONDO:0014932); Joubert syndrome 38 (MONDO:MONDO:0030353); short-rib thoracic dysplasia 21 without polydactyly (MONDO:MONDO:0030356)", "pathway": " (hsa:9851)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "11237011;23186163;24613305;24714562;25576301;26297806;26643951;26728094;27846572;28220259;29138412;30379171;31816441;31844290;32157095;32357974;32387766;32488085;32938616;33298915;33717175;33875766;33968037;34241634;34523780;34711653;35051231;35580925;36215666;36284347;37217939;39894887", "class_list": "", "function": "A ciliopathy complex builds distal appendages to initiate ciliogenesis., [RefSeq, PubMed]; CEP120-mediated KIAA0753 recruitment onto centrioles is required for timely neuronal differentiation and germinal zone exit in the developing cerebellum., [RefSeq, PubMed]; Genetic and phenotypic heterogeneity in KIAA0753-related ciliopathies., [RefSeq, PubMed]; Involved in centriole duplication (PubMed:24613305, PubMed:26297806). Positively regulates CEP63 centrosomal localization (PubMed:24613305, PubMed:26297806). Required for WDR62 centrosomal localization and promotes the centrosomal localization of CDK2 (PubMed:24613305, PubMed:26297806). May play a role in cilium assembly., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a subunit of a protein complex that regulates ciliogenesis and cilia maintenance. The encoded protein has also been shown to regulate centriolar duplication. Mutations in this gene cause an orofaciodigital syndrome and a form of Joubert syndrome in human patients. [provided by RefSeq, May 2017]., [RefSeq]; We demonstrate that KIAA0753 is expressed in normal fetal human growth plate and show that the affected fetus, with a compound heterozygous frameshift and a nonsense mutation in KIAA0753, has an abnormal proliferative zone and a broad hypertrophic zone. 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": 6, "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": "A8KA11;B7Z479;O94853;Q05D97;Q2KHN0;Q9UG45", "ec_number_list": "", "go_molecular_function": "GO:0046872 metal ion binding;GO:0051537 2 iron, 2 sulfur cluster binding", "go_cellular_component": "GO:0005813 centrosome;GO:0005815 microtubule organizing center;GO:0005814 centriole;GO:0034451 centriolar satellite", "go_biological_process": "GO:0060271 cilium assembly;GO:0071539 protein localization to centrosome;GO:0007099 centriole replication;GO:0061824 cytosolic ciliogenesis", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q2KHM9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z7G1-1", "uniprot_id": "CLNK_HUMAN", "mass": 49554.0, "length": 428, "protein_name": "Cytokine-dependent hematopoietic cell linker", "gene_name": "CLNK", "organism": "Human", "refseq_name": "cytokine-dependent hematopoietic cell linker", "refseq_ac": "NP_443196", "gene_names_uniprotkb": "CLNK; MIST", "gene_names_refseq": "CLNK; MIST", "protein_names_uniprotkb": "Cytokine-dependent hematopoietic cell linker; Mast cell immunoreceptor signal transducer", "protein_names_refseq": "cytokine-dependent hematopoietic cell linker; mast cell immunoreceptor signal transducer", "tax_id": 9606, "disease": "", "pathway": " (hsa:116449)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "10744659;11237011;18987618;25591661;26009488;26438387;27893789;28218747;28832583;29242379;29437277;29632711;34357683;34371177;35051231;35705054", "class_list": "", "function": "An adapter protein which plays a role in the regulation of immunoreceptor signaling, including PLC-gamma-mediated B-cell antigen receptor (BCR) signaling and FC-epsilon R1-mediated mast cell degranulation (By similarity). Together with FGR, it acts as a negative regulator of natural killer cell-activating receptors and inhibits interferon-gamma production (By similarity). Acts as a positive regulator of both T-cell receptor and natural killer T (NKT) cell receptor signaling in CD4-positive NKT cells (By similarity). Together with MAP4K1, it enhances CD3-triggered activation of T-cells and subsequent IL2 production (By similarity). May be involved in tumor necrosis factor induced cell death by promoting reactive oxidative species generation, and MLKL oligomerization, ultimately leading to necrosis (By similarity). Involved in phosphorylation of LAT (By similarity). May be involved in high affinity immunoglobulin epsilon receptor signaling in mast cells (By similarity)., [UniProtKB, UniProtKB]; CLNK and ZNF518B SNPs may have potential as diagnostic and prognostic marker for Chinese gout patients., [RefSeq, PubMed]; Identify positive correlations between WDR1 and CLNK gene polymorphisms in Chinese-Tibetan gout populations., [RefSeq, PubMed]; MIST is a member of the SLP76 family of adaptors (see LCP2, MIM 601603; BLNK, MIM 604515). MIST plays a role in the regulation of immunoreceptor signaling, including PLC-gamma (PLCG1; MIM 172420)-mediated B cell antigen receptor (BCR) signaling and FC-epsilon R1 (see FCER1A, MIM 147140)-mediated mast cell degranulation (Cao et al., 1999 [PubMed 10562326]; Goitsuka et al., 2000, 2001 [PubMed 10744659] [PubMed 11463797]).[supplied by OMIM, Mar 2008]., [RefSeq]; 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": 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": 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": "Q05C27;Q9P2U9", "ec_number_list": "", "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0042629 mast cell granule;GO:0032991 protein-containing complex", "go_biological_process": "GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0035556 intracellular signal transduction;GO:0043303 mast cell degranulation;GO:0002729 positive regulation of natural killer cell cytokine production;GO:0032815 negative regulation of natural killer cell activation", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q7Z7G1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96PU8-1", "uniprot_id": "QKI_HUMAN", "mass": 37671.0, "length": 341, "protein_name": "KH domain-containing RNA-binding protein QKI", "gene_name": "QKI", "organism": "Human", "refseq_name": "KH domain-containing RNA-binding protein QKI isoform 5", "refseq_ac": "NP_001288014", "gene_names_uniprotkb": "QKI; HKQ", "gene_names_refseq": "Hqk; QK1; QK3; QKI; QK; hqkI", "protein_names_uniprotkb": "KH domain-containing RNA-binding protein QKI; HqkI; Hqk; Protein quaking", "protein_names_refseq": "KH domain-containing RNA-binding protein QKI isoform 5; KH domain-containing RNA-binding protein QKI; QKI/LOC100132735 fusion; RNA binding protein HQK; homolog of mouse quaking QKI (KH domain RNA binding protein); quaking homolog, KH domain RNA binding", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:9444); (R-HSA-6802952)", "pathway_count": 2, "publication_count": 127, "publication_id_list": "10.1101/2023.09.13.557529;10535969;11237011;11856480;12529443;15630448;16342280;16641098;16959974;18974108;20526349;21424530;22398723;22424782;22544926;22745804;23186163;23301498;23455924;23481700;23583981;23630077;23783831;24129315;24135138;24345920;24714562;24715725;25204415;25505266;25576301;25645385;25768908;25907612;26154972;26375851;26811146;26992070;27029405;27397612;27503676;27600516;27767378;27846572;27862975;27920218;28228285;28514659;28657654;28832583;28834231;28904123;29242379;29331515;29393594;29485866;29493099;29508533;29557506;29632711;29786170;29789417;30315122;30429286;30524438;30620550;31154438;31217245;31331967;31492838;31530632;31792053;31829086;31844290;31848261;31937595;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32732889;32897882;32938616;32938750;32983136;33123756;33141586;33214551;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34171305;34211107;34405274;34428287;34509645;34561969;34804823;34932366;35051231;35154160;35254053;35561310;35580925;36010968;36284347;37379838;37938771;38372062;38665916;38769028;38814217;39032650;39531497;39534244;40307207;40596516", "class_list": "", "function": "Circular RNA Circ_0001322 inhibits gastric cancer progression by modulating the miR-1264/QKI axis and suppressing the Hedgehog pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Cytosolic isoform that specifically recognizes and binds mRNA transcripts modified by internal N(7)-methylguanine (m7G) (PubMed:37379838). Interaction with G3BP1 promotes localization of m7G-containing mRNAs into stress granules in response to stress, thereby suppressing their translation (PubMed:37379838). Acts as a translational repressor for HNRNPA1 and GLI1 (By similarity). Translation inhibition of HNRNPA1 during oligodendrocyte differentiation prevents inclusion of exon 12 in MAG pre-mRNA splicing (By similarity). Involved in astrocyte differentiation by regulating translation of target mRNAs (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Involvement of circRNA Regulators MBNL1 and QKI in the Progression of Esophageal Squamous Cell Carcinoma., [RefSeq, PubMed]; Isoform balance of the long noncoding RNA NEAT1 is regulated by the RNA-binding protein QKI, governs the glioma transcriptome, and impacts cell migration., [RefSeq, PubMed]; Mature microRNA-binding protein QKI promotes microRNA-mediated gene silencing., [RefSeq, PubMed]; Nuclear isoform that acts as an indirect regulator of mRNA splicing (By similarity). Regulates mRNA splicing of MAG pre-mRNA by inhibiting translation of HNRNPA1 mRNA, thereby preventing MAG exon 12 alternative splicing (By similarity). Involved in oligodendrocyte differentiation by promoting stabilization of SIRT2 mRNA (By similarity). Acts as a negative regulator of the interferon response by binding to MAVS mRNA, downregulating its expression (PubMed:31829086). Also inhibits the interferon response by binding to fibrinectin FN1 pre-mRNA, repressing EDA exon inclusion in FN1 (PubMed:34428287). Delays macrophage differentiation by binding to CSF1R mRNA, promoting its degradation (PubMed:22398723). In addition to its RNA-binding activity, also acts as a nuclear transcription coactivator for SREBF2/SREBP2, promoting SREBF2/SREBP2-dependent cholesterol biosynthesis (By similarity). SREBF2/SREBP2-dependent cholesterol biosynthesis participates to myelinization and is required for eye lens transparency (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; RNA reader protein, which recognizes and binds specific RNAs, thereby regulating RNA metabolic processes, such as pre-mRNA splicing, circular RNA (circRNA) formation, mRNA export, mRNA stability and/or translation (PubMed:22398723, PubMed:23630077, PubMed:25768908, PubMed:27029405, PubMed:31331967, PubMed:37379838). Involved in various cellular processes, such as mRNA storage into stress granules, apoptosis, lipid deposition, interferon response, glial cell fate and development (PubMed:25768908, PubMed:31829086, PubMed:34428287, PubMed:37379838). Binds to the 5'-NACUAAY-N(1,20)-UAAY-3' RNA core sequence (PubMed:23630077). Acts as a mRNA modification reader that specifically recognizes and binds mRNA transcripts modified by internal N(7)-methylguanine (m7G) (PubMed:37379838). Promotes the formation of circular RNAs (circRNAs) during the epithelial to mesenchymal transition and in cardiomyocytes: acts by binding to sites flanking circRNA-forming exons (PubMed:25768908). CircRNAs are produced by back-splicing circularization of pre-mRNAs (PubMed:25768908). Plays a central role in myelinization via 3 distinct mechanisms (PubMed:16641098). First, acts by protecting and promoting stability of target mRNAs such as MBP, SIRT2 and CDKN1B, which promotes oligodendrocyte differentiation (By similarity). Second, participates in mRNA transport by regulating the nuclear export of MBP mRNA (By similarity). Finally, indirectly regulates mRNA splicing of MAG pre-mRNA during oligodendrocyte differentiation by acting as a negative regulator of MAG exon 12 alternative splicing: acts by binding to HNRNPA1 mRNA splicing factor, preventing its translation (By similarity). Involved in microglia differentiation and remyelination by regulating microexon alternative splicing of the Rho GTPase pathway (By similarity). Involved in macrophage differentiation: promotes monocyte differentiation by regulating pre-mRNA splicing in naive peripheral blood monocytes (PubMed:27029405). Acts as an important regulator of muscle development: required for the contractile function of cardiomyocytes by regulating alternative splicing of cardiomyocyte transcripts (By similarity). Acts as a negative regulator of thermogenesis by decreasing stability, nuclear export and translation of mRNAs encoding PPARGC1A and UCP1 (By similarity). Also required for visceral endoderm function and blood vessel development (By similarity). May also play a role in smooth muscle development (PubMed:31331967). In addition to its RNA-binding activity, also acts as a nuclear transcription coactivator for SREBF2/SREBP2 (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is an RNA-binding protein that regulates pre-mRNA splicing, export of mRNAs from the nucleus, protein translation, and mRNA stability. The encoded protein is involved in myelinization and oligodendrocyte differentiation and may play a role in schizophrenia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]., [RefSeq]; There are many isoforms of this RNA binding protein. QKI-6 has been shown to be a translational repressor., [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": 2, "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": 1, "reported_phosphosites": 2, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q2I375;Q5MJQ1;Q969L9;Q96EJ3;Q96KA3;Q96PU6;Q96PU7;Q9P0X6;Q9P0X7;Q9P0X8;Q9P0X9;Q9P0Y0;Q9P0Y1", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003713 transcription coactivator activity;GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0017124 SH3 domain binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0045202 synapse;GO:0010494 cytoplasmic stress granule", "go_biological_process": "GO:0010717 regulation of epithelial to mesenchymal transition;GO:0035886 vascular associated smooth muscle cell differentiation;GO:0048255 mRNA stabilization;GO:0048714 positive regulation of oligodendrocyte differentiation;GO:0045542 positive regulation of cholesterol biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 13.6, "record_id": "Q96PU8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N137-1", "uniprot_id": "CNTRB_HUMAN", "mass": 101253.0, "length": 903, "protein_name": "Centrobin", "gene_name": "CNTROB", "organism": "Human", "refseq_name": "centrobin isoform beta", "refseq_ac": "NP_001032221", "gene_names_uniprotkb": "CNTROB; LIP8; PP1221", "gene_names_refseq": "CNTROB; LIP8; PP1221", "protein_names_uniprotkb": "Centrobin; Centrosomal BRCA2-interacting protein; LYST-interacting protein 8", "protein_names_refseq": "LYST-interacting protein 8; LYST-interacting protein LIP8; centrobin isoform beta; centrobin, centrosomal BRCA2 interacting protein; centrosomal BRCA2-interacting protein", "tax_id": 9606, "disease": "male infertility due to acephalic spermatozoa (Disease Ontology:DOID:0112311)", "pathway": " (hsa:116840)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "11237011;11984006;15498874;16275750;17525332;17535851;20068231;23186163;25576301;26375851;26992070;27862975;27920218;28832583;29242379;29440264;29493099;31416397;31844290;32157095;32357974;32387766;32502341;32938616;33592498;33912179;33968037;33981976;34105348;34509645;35051231;35580925;36010968;37759442", "class_list": "", "function": "Centrobin is a centriole-associated protein that asymmetrically localizes to the daughter centriole., [RefSeq, PubMed]; Centrobin plays a role in the cellular response to DNA damage., [RefSeq, PubMed]; Protein Phosphatase 4 Is Required for Centrobin Function in DNA Damage Repair. Publication Status: Online-Only, [RefSeq, PubMed]; Required for centriole duplication. Inhibition of centriole duplication leading to defects in cytokinesis., [UniProtKB, PubMed]; Results report that NIP2, previously identified as centrobin, is a novel substrate of Nek2, and that NIP2 has a role in stabilizing the microtubule structure., [RefSeq, PubMed]; Suggest centrobin functions as a positive regulator of vertebrate ciliogenesis., [RefSeq, PubMed]; This gene encodes a centrosomal protein that interacts with BRCA2, and is required for centriole duplication and cytokinesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "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": "A6NHQ1;Q331K3;Q69YV7;Q8NCB8;Q8WXV3;Q96CQ7;Q9C060", "ec_number_list": "", "go_molecular_function": "GO:0019904 protein domain specific binding", "go_cellular_component": "GO:0005813 centrosome;GO:0005814 centriole;GO:0036064 ciliary basal body", "go_biological_process": "GO:1902017 regulation of cilium assembly;GO:0007099 centriole replication;GO:0051299 centrosome separation;GO:1902410 mitotic cytokinetic process", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q8N137-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96M83-1", "uniprot_id": "CCDC7_HUMAN", "mass": 157448.0, "length": 1385, "protein_name": "Coiled-coil domain-containing protein 7", "gene_name": "CCDC7", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 7 isoform a", "refseq_ac": "NP_001021554", "gene_names_uniprotkb": "CCDC7; BIOT2; C10orf68", "gene_names_refseq": "BIOT2; BioT2-A; BioT2-B; BioT2-C; C10orf68; CCDC7", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 7; Protein BIOT2", "protein_names_refseq": "coiled-coil domain-containing protein 7 isoform a; coiled-coil domain-containing protein 7; epididymis secretory sperm binding protein; uncharacterized protein C10orf68", "tax_id": 9606, "disease": "", "pathway": " (hsa:79741)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;16385451;18984674;21109960;22024937;28832583;30379171;31844290;32387766;32938616;35051231;35494241;38253038", "class_list": "", "function": "A higher expression of hBiot2 in primary CRC patients independently indicates a poorer prognosis., [RefSeq, PubMed]; May play a role in tumorigenesis., [UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Overexpression of hBiot2 is associated with early and interim development of human cervical 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 32, "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": "B0QZ71;Q08AN7;Q5VW55;Q8IVQ0;Q8N7T7;Q8NEQ0;Q9H943", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q96M83-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q14031-1", "uniprot_id": "CO4A6_HUMAN", "mass": 163807.0, "length": 1691, "protein_name": "Collagen alpha-6(IV) chain", "gene_name": "COL4A6", "organism": "Human", "refseq_name": "collagen alpha-6(IV) chain isoform 5 precursor", "refseq_ac": "NP_001274689", "gene_names_uniprotkb": "COL4A6", "gene_names_refseq": "COL4A6; CXDELq22.3; DELXq22.3; DFNX6", "protein_names_uniprotkb": "Collagen alpha-6(IV) chain", "protein_names_refseq": "collagen IV, alpha-6 polypeptide; collagen alpha-6(IV) chain isoform 5 precursor; collagen alpha-6(IV) chain; collagen of basement membrane, alpha-6; collagen, type IV, alpha 6; dJ889N15.4 (Collagen Alpha 6(IV))", "tax_id": 9606, "disease": "X-linked deafness 6 (Disease Ontology:DOID:0111740); myopathy (Disease Ontology:DOID:423); collagen disease (Disease Ontology:DOID:854)", "pathway": " (hsa:1288); (R-HSA-1442490); (R-HSA-1566977); (R-HSA-1650814); (R-HSA-2022090); (R-HSA-216083); (R-HSA-2214320); (R-HSA-2243919); (R-HSA-3000157); (R-HSA-3000171); (R-HSA-3000178); (R-HSA-8948216); (R-HSA-9638630)", "pathway_count": 13, "publication_count": 243, "publication_id_list": "10022829;10049780;10209034;10339611;10366422;10438935;10479448;10543983;10551873;10593924;10596943;10605720;10640428;10673326;10673366;10713152;10809722;10811134;10934207;10966814;10982388;11013208;11054877;11084047;11119712;11158588;11237011;11259413;11313359;11518510;11572855;11577169;11713259;11739641;11847221;11927537;11964076;11980922;11986329;12211432;12225811;12237301;1237296;12473679;12475640;12482924;12496264;12579531;12585966;12646579;12682293;12784310;12807887;1323838;1348714;1376317;1400327;14500733;14602708;14715956;1484505;15005656;15044469;15075323;15240572;15257288;15265795;15296743;15330449;15345499;15383545;1544908;1567360;15713743;1577494;15837520;1588291;15899827;15950618;16002701;16051604;16239428;16272566;16293224;16413178;16493581;16563355;16581764;16591531;16731529;16754661;16806867;16825197;16933105;16959974;1704217;17088321;171650;17339034;17588949;17968485;18487197;18599485;18622425;18710925;18775695;19075007;19502598;19693541;19729652;20033473;2005102;2010551;2045422;20470363;2059554;20690820;20705068;21593211;21642437;2169335;21789315;21878990;21935455;21967573;22134916;22241472;22382088;22493504;2253219;22539938;22842973;22884367;2307289;23374253;2364322;23714752;2412224;2420006;2430969;24715725;2537292;2543975;2548603;2551898;2834383;2845110;28832583;29242379;29351928;29422532;29557506;30192525;3038863;3082888;3173483;31844290;3223920;32387766;33392160;33840813;34087483;35051231;3595596;36010968;36215666;37217939;38253038;3872795;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;7657706;7685013;7693733;7852349;7890717;8002934;8118028;8125972;8175748;8207089;8344274;8356449;8440685;8463259;8560266;8576151;8636146;8661006;8798654;8838667;8910476;8920930;8943283;8999957;9008168;9054364;9092507;9245798;9251239;9252349;9294172;9341124;9346959;9443892;9470928;9545296;9560306;9565552;9582318;9645947;9651395;9659899;9659900;9671947;9685393;9856810;9858236;9949188", "class_list": "", "function": "Confirmation of COL4A6 variants in X-linked nonsyndromic hearing loss and its clinical implications., [RefSeq, PubMed]; These findings indicate that alpha112:alpha556 (IV) network, which is the only network that includes the alpha6(IV) chain, is one regulator of KRT10 expression in keratinization of oral mucosal epithelium. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. 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, alpha 5 type IV collagen, so that the gene pair shares a common promoter. Deletions in the alpha 5 gene that extend into the alpha 6 gene result in diffuse leiomyomatosis accompanying the X-linked Alport syndrome caused by the deletion in the alpha 5 gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]., [RefSeq]; 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, UniProtKB, UniProtKB]", "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": 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 34, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "Q12823;Q14053;Q5JYH6;Q5JYH8;Q9NQM5;Q9NTX3;Q9UJ76;Q9UMG6;Q9Y4L4", "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:0005604 basement membrane;GO:0005587 collagen type IV trimer", "go_biological_process": "GO:0007155 cell adhesion;GO:0030198 extracellular matrix organization;GO:0030199 collagen fibril organization;GO:0038063 collagen-activated tyrosine kinase receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 25.1, "record_id": "Q14031-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P20908-1", "uniprot_id": "CO5A1_HUMAN", "mass": 183560.0, "length": 1838, "protein_name": "Collagen alpha-1(V) chain", "gene_name": "COL5A1", "organism": "Human", "refseq_name": "collagen alpha-1(V) chain isoform 2 preproprotein", "refseq_ac": "NP_001265003", "gene_names_uniprotkb": "COL5A1", "gene_names_refseq": "COL5A1; EDSCL1; EDSC; FMDMF", "protein_names_uniprotkb": "Collagen alpha-1(V) chain", "protein_names_refseq": "collagen alpha-1(V) chain isoform 2 preproprotein; collagen alpha-1(V) chain; collagen, type V, alpha 1", "tax_id": 9606, "disease": "Ehlers-Danlos syndrome (Disease Ontology:DOID:13359); Ehlers-Danlos syndrome classic type 1 (Disease Ontology:DOID:14720); fibromuscular dysplasia, multifocal (MONDO:MONDO:0859151)", "pathway": " (hsa:1289); (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": 304, "publication_id_list": "37268159;10.1101/2023.09.13.557529;10022829;10049780;10209034;10339611;10366422;10438935;10471441;10479448;10508235;10521801;10543983;10551873;10593924;10596943;10602121;10605720;10640428;10673326;10673366;10713152;10809722;10811134;10934207;10966814;10982388;11013208;11084047;11119712;11158588;11237011;11259413;11518510;11572855;11577169;11713259;11739641;11847221;11927537;11980922;11992482;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;15580559;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;1722213;17314405;17339034;17367763;17574028;17588949;17604334;17943726;17968485;18059411;18487197;18559524;18622425;18710925;18775695;18972565;19075007;19502598;19564526;19693541;20033473;2005102;20068231;2010551;2045422;20470363;2059554;20690820;20705068;2071595;20802513;20813817;21248752;21251937;21376233;21593211;21642437;2169335;21789315;21878990;21935455;21967573;2203476;22134916;22149965;22241472;22382088;2253219;22539938;22884367;22933705;2307289;23090970;23374253;23583652;2364322;2412224;24190977;2420006;2430969;24480479;2496661;25328409;2537292;2543975;2548603;2551898;25597754;26477546;27726376;2809592;2834383;28435517;2845110;28832583;28904123;29093181;29137923;29242379;29263244;29408302;29557506;2963012;29741879;29786170;29964125;3038863;30389923;30459171;30484775;31085175;31154438;3173483;31844290;32157095;32161166;3223920;32350084;32488085;32938213;32938616;32983136;33141586;33592498;33912179;33968037;33981976;34171305;34357683;34846842;35051231;35251023;35289036;36010968;36241641;36284347;37074911;37217939;37471146;37938771;38665916;3872795;39030862;39043220;3905801;3938630;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;9042913;9054364;9092507;9099729;9115237;9251239;9252349;9294172;9334164;9341124;9346959;9398268;9417118;9443892;9545296;9560306;9565552;9582318;9614116;9651395;9659899;9659900;9685393;9739761;9856810;9858236;9949188", "class_list": "", "function": "COL5A1 overexpression correlates with poor prognosis in human cervical cancer., [RefSeq, PubMed]; CircCOL5A1 is involved in proliferation, invasion, and inhibition of ferroptosis of colorectal cancer cells via miR-1287-5p/SLC7A11., [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. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]., [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., [UniProtKB]", "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": 2, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 8, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 8, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 8, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 81, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 22, "disease_count": 3, "glyco_site_count": 16, "binding_glycan_count": 0, "secondary_ac_list": "A0A087WXW9;Q15094;Q5SUX4", "ec_number_list": "", "go_molecular_function": "GO:0005178 integrin binding;GO:0008201 heparin binding;GO:0046872 metal ion binding;GO:0043394 proteoglycan 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:0005592 collagen type XI trimer", "go_biological_process": "GO:0007155 cell adhesion;GO:0016477 cell migration;GO:0030199 collagen fibril organization;GO:0035313 wound healing, spreading of epidermal cells;GO:0043588 skin development", "synthesized_glycan_count": 0, "hit_score": 33.9, "record_id": "P20908-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9ULV8-1", "uniprot_id": "CBLC_HUMAN", "mass": 52456.0, "length": 474, "protein_name": "E3 ubiquitin-protein ligase CBL-C", "gene_name": "CBLC", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase CBL-C isoform 2", "refseq_ac": "NP_001124324", "gene_names_uniprotkb": "CBLC; CBL3; RNF57", "gene_names_refseq": "CBL-3; CBL-SL; CBLC; RNF57", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase CBL-C; 2.3.2.27; RING finger protein 57; RING-type E3 ubiquitin transferase CBL-C; SH3-binding protein CBL-3; SH3-binding protein CBL-C; Signal transduction protein CBL-C", "protein_names_refseq": "Cas-Br-M (murine) ecotropic retroviral transforming sequence c; Cas-Br-M (murine) ectropic retroviral transforming sequence c; Cbl proto-oncogene C, E3 ubiquitin protein ligase; Cbl proto-oncogene, E3 ubiquitin protein ligase C; E3 ubiquitin-protein ligase CBL-C isoform 2; E3 ubiquitin-protein ligase CBL-C; RING finger protein 57; RING-type E3 ubiquitin transferase CBL-C; SH3-binding protein CBL-3; SH3-binding protein CBL-C; signal transduction protein CBL-C", "tax_id": 9606, "disease": "", "pathway": " (hsa:23624)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "10362357;10571044;11237011;14661060;15302935;18753381;19413330;20525694;22888118;23145173;29557506;30779550;31844290;35051231;35149839;35580925;36043996", "class_list": "", "function": "Acts as an E3 ubiquitin-protein ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their degradation by the proteasome. Functionally coupled with the E2 ubiquitin-protein ligases UB2D1, UB2D2 and UB2D3. Regulator of EGFR mediated signal transduction; upon EGF activation, ubiquitinates EGFR. Isoform 1, but not isoform 2, inhibits EGF stimulated MAPK1 activation. Promotes ubiquitination of SRC phosphorylated at 'Tyr-419'. In collaboration with CD2AP may act as regulatory checkpoint for Ret signaling by modulating the rate of RET degradation after ligand activation; CD2AP converts it from an inhibitor to a promoter of RET degradation; the function limits the potency of GDNF on neuronal survival., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; CBLC inhibits the proliferation and metastasis of breast cancer cells via ubiquitination and degradation of CTTN., [RefSeq, PubMed]; E3 ubiquitin-protein ligase which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and transfers it to substrates, generally promoting their degradation by the proteasome., [UniProtKB, UniProtKB]; Stabilization of AURKA by the E3 ubiquitin ligase CBLC in lung adenocarcinoma., [RefSeq, PubMed]; This gene encodes a member of the Cbl family of E3 ubiquitin ligases. Cbl proteins play important roles in cell signaling through the ubiquitination and subsequent downregulation of tyrosine kinases. Expression of this gene may be restricted to epithelial cells, and alternatively spliced transcript variants encoding multiple isoforms have been observed 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": 4, "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": "Q8N1E5;Q9Y5Z2;Q9Y5Z3", "ec_number_list": "", "go_molecular_function": "GO:0001784 phosphotyrosine residue binding;GO:0008270 zinc ion binding;GO:0017124 SH3 domain binding;GO:0005509 calcium ion binding;GO:0005154 epidermal growth factor receptor binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0045121 membrane raft", "go_biological_process": "GO:0007165 signal transduction;GO:0007166 cell surface receptor signaling pathway;GO:0016567 protein ubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0042059 negative regulation of epidermal growth factor receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q9ULV8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BYE9-1", "uniprot_id": "CDHR2_HUMAN", "mass": 141543.0, "length": 1310, "protein_name": "Cadherin-related family member 2", "gene_name": "CDHR2", "organism": "Human", "refseq_name": "cadherin-related family member 2 precursor", "refseq_ac": "NP_001165447", "gene_names_uniprotkb": "CDHR2; PCDH24; PCLKC", "gene_names_refseq": "CDHR2; PCDH24; PCLCK; PCLKC", "protein_names_uniprotkb": "Cadherin-related family member 2; PC-LKC; Protocadherin LKC; Protocadherin-24", "protein_names_refseq": "cadherin-related family member 2 precursor; protocadherin-24", "tax_id": 9606, "disease": "", "pathway": " (hsa:54825)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "11237011;12117771;15534908;18987736;19383367;22628312;24275569;24725409;25576301;26812017;26812018;27862975;29391424;29557506;30484775;31154438;31217245;31530632;32209652;32357974;32387766;34087483;34871294;35051231;35580925;37074911;38253038", "class_list": "", "function": "CDHR24 is directly involved in cell and tissue morphogenesis, [RefSeq, PubMed]; Heterophilic and homophilic cadherin interactions in intestinal intermicrovillar links are species dependent. Publication Status: Online-Only, [RefSeq, PubMed]; Intermicrovillar adhesion molecule that forms, via its extracellular domain, calcium-dependent heterophilic complexes with CDHR5 on adjacent microvilli. Thereby, controls the packing of microvilli at the apical membrane of epithelial cells. Through its cytoplasmic domain, interacts with microvillus cytoplasmic proteins to form the intermicrovillar adhesion complex/IMAC. This complex plays a central role in microvilli and epithelial brush border differentiation (PubMed:24725409). May also play a role in cell-cell adhesion and contact inhibition in epithelial cells (PubMed:12117771)., [UniProtKB, PubMed, PubMed]; Study found that brush border assembly is driven by the formation of Ca(2+)-dependent adhesion links between adjacent microvilli. Intermicrovillar links are composed of protocadherin-24 and mucin-like protocadherin, which target to microvillar tips and interact to form a trans-heterophilic complex., [RefSeq, PubMed]; Suppression of beta-catenin signaling by PCDH24 leads to contact inhibition, [RefSeq, PubMed]; This gene is a member of the protocadherin family, which represents a subset of the larger cadherin superfamily. The members of the protocadherin family encode non-classical cadherins that function as calcium-dependent cell-cell adhesion molecules. This protocadherin represents a new candidate for tumor suppression. Alternatively spliced transcript variants that encode the same protein have been identified. [provided by RefSeq, Jan 2010]., [RefSeq]", "predicted_glycosites": 22, "predicted_n_glycosites": 21, "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": 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": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 99, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 26, "disease_count": 0, "glyco_site_count": 28, "binding_glycan_count": 0, "secondary_ac_list": "A1L3U4;A6NC80;Q9NXP8", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005903 brush border;GO:0005912 adherens junction;GO:0070062 extracellular exosome;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0007409 axonogenesis;GO:0030855 epithelial cell differentiation;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:1904970 brush border assembly;GO:0032532 regulation of microvillus length", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q9BYE9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q08050-1", "uniprot_id": "FOXM1_HUMAN", "mass": 84283.0, "length": 763, "protein_name": "Forkhead box protein M1", "gene_name": "FOXM1", "organism": "Human", "refseq_name": "forkhead box protein M1 isoform 4", "refseq_ac": "NP_001230017", "gene_names_uniprotkb": "FOXM1; FKHL16; HFH11; MPP2; WIN", "gene_names_refseq": "FKHL16; FOXM1A; FOXM1B; FOXM1C; FOXM1; HFH-11; HFH11; HNF-3; INS-1; MPHOSPH2; MPP-2; MPP2; PIG29; TRIDENT", "protein_names_uniprotkb": "Forkhead box protein M1; Forkhead-related protein FKHL16; HFH-11; HNF-3/fork-head homolog 11; Hepatocyte nuclear factor 3 forkhead homolog 11; M-phase phosphoprotein 2; MPM-2 reactive phosphoprotein 2; Transcription factor Trident; Winged-helix factor from INS-1 cells", "protein_names_refseq": "Forkhead, drosophila, homolog-like 16; HNF-3/fork-head homolog 11; M-phase phosphoprotein 2; MPM-2 reactive phosphoprotein 2; forkhead box M1-D; forkhead box protein M1 isoform 4; forkhead-related protein FKHL16; hepatocyte nuclear factor 3 forkhead homolog 11; transcription factor Trident; winged-helix factor from INS-1 cells", "tax_id": 9606, "disease": "lymphoproliferative syndrome (Disease Ontology:DOID:0060704); aspirin-induced respiratory disease (Disease Ontology:DOID:0080822); tuberculoid leprosy (Disease Ontology:DOID:1025); stomach cancer (Disease Ontology:DOID:10534); Alzheimer's disease (Disease Ontology:DOID:10652); dengue hemorrhagic fever (Disease Ontology:DOID:12206); lung cancer (Disease Ontology:DOID:1324); limited scleroderma (Disease Ontology:DOID:1577); diffuse scleroderma (Disease Ontology:DOID:1580); multiple sclerosis (Disease Ontology:DOID:2377); cervix carcinoma (Disease Ontology:DOID:2893); pulmonary tuberculosis (Disease Ontology:DOID:2957); allergic contact dermatitis (Disease Ontology:DOID:3042); pancreatic ductal adenocarcinoma (Disease Ontology:DOID:3498); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); cervical cancer (Disease Ontology:DOID:4362); reactive arthritis (Disease Ontology:DOID:6196); hepatocellular carcinoma (Disease Ontology:DOID:684); ankylosing spondylitis (Disease Ontology:DOID:7147); rheumatoid arthritis (Disease Ontology:DOID:7148); psoriasis (Disease Ontology:DOID:8893); systemic lupus erythematosus (Disease Ontology:DOID:9074); type 2 diabetes mellitus (Disease Ontology:DOID:9352); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:2305); (R-HSA-156711); (R-HSA-69273); (R-HSA-9725371)", "pathway_count": 4, "publication_count": 162, "publication_id_list": "10393926;10395539;10600115;10652300;10827953;11063929;11169414;11237011;11238451;11313932;11751994;11897663;11907280;12411508;12738781;12748172;12754270;1384126;15024056;15037762;15070733;15302935;15456846;15572030;15654331;16009132;16582612;17101782;17110082;17111047;1717476;17416736;17533373;17690253;17922009;18024471;18097461;1828290;18285455;1836978;18384749;18394995;18452278;18669648;18691976;19160488;19192479;19651622;19737929;20015877;20068231;20360007;20360045;20493732;21715655;21720365;21813648;21900495;22094256;22391450;22955283;23109430;23186163;23240008;23242214;23481700;24060861;24366607;24714562;24715725;25218447;25505266;25576301;25645385;25755297;25772364;25818168;25880248;25892735;26279295;26375851;26912724;26992070;27399334;27553022;27600516;27846572;27920218;28218747;28228285;28393243;28832583;28834231;28904123;29154753;29242379;29331515;29432282;29437277;29493099;29557506;29588546;29769354;29786170;29789417;30139873;30192525;30315122;30620550;30692217;30791546;31217245;31366041;31390744;31434245;31844290;32157095;32357974;32488085;32502341;32606397;32897882;32938616;32983136;33141586;33235818;33298915;33314660;33402344;33592498;33691108;33754036;33771996;33936100;33968037;33981976;34171305;34185709;34932366;35051231;35318648;36010968;36241641;39019868;39060874;39179895;39425454;39441582;7737117;7743995;7799941;8119945;8290587;8428596;8440392;8703070;9032290;9242644;9268380;9670027;9679058;9930702", "class_list": "", "function": "ALKBH5 Regulates Corneal Neovascularization by Mediating FOXM1 M6A Demethylation., [RefSeq, PubMed]; Biochemical role of FOXM1-dependent histone linker H1B in human epidermal stem cells. Publication Status: Online-Only, [RefSeq, PubMed]; KIAA1429 increases FOXM1 expression through YTHDF1-mediated m6A modification to promote aerobic glycolysis and tumorigenesis in multiple myeloma. Publication Status: Online-Only, [RefSeq, PubMed]; Required for the activation of Rho-associated protein kinases ROCK1 and ROCK2 and promotes epithelial-mesenchymal transition (PubMed:27399334). Enhances the activation of phosphatidylinositol 4,5-bisphosphate 3-kinase (PI3K) by binding simultaneously to the catalytic and regulatory subunits (PubMed:32606397). This relieves the inhibitory effect of the regulatory subunit on the kinase activity of the catalytic subunit, resulting in downstream signaling events such as AKT activation, GSK3B inactivation, and increased levels of SNAI1 (PubMed:32606397). Promotes glycolysis by binding to the pyruvate kinase PKM homotetramer to form a heterooctamer, inhibiting PKM activity (PubMed:33314660). Promotes the IMP4-mediated nuclear translocation of both PKM and the NF-kappa-B complex which increases transcription of VEGFA, leading to increased angiogenesis (PubMed:33314660)., [UniProtKB, PubMed, PubMed, PubMed]; SIRT2 deacetylates and decreases the expression of FOXM1 in colon cancer., [RefSeq, PubMed]; The RNA-binding protein IGF2BP1 regulates stability of mRNA transcribed from FOXM1 target genes in hypermitotic meningiomas. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a transcriptional activator involved in cell proliferation. The encoded protein is phosphorylated in M phase and regulates the expression of several cell cycle genes, such as cyclin B1 and cyclin D1. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]., [RefSeq]; Transcription factor regulating the expression of cell cycle genes essential for DNA replication and mitosis (PubMed:19160488, PubMed:20360045). Plays a role in the control of cell proliferation (PubMed:19160488). Also plays a role in DNA break repair, participating in the DNA damage checkpoint response (PubMed:17101782). Promotes transcription of PHB2 (PubMed:33754036)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, 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": 34, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 1, "disease_count": 24, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A0A2P9DTZ0;O43258;O43259;O43260;Q4ZGG7;Q9BRL2", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0019901 protein kinase 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_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006281 DNA repair;GO:0006351 DNA-templated transcription;GO:0008284 positive regulation of cell population proliferation;GO:0042127 regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 16.5, "record_id": "Q08050-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96JQ2-1", "uniprot_id": "CLMN_HUMAN", "mass": 111651.0, "length": 1002, "protein_name": "Calmin", "gene_name": "CLMN", "organism": "Human", "refseq_name": "calmin", "refseq_ac": "NP_079010", "gene_names_uniprotkb": "CLMN; KIAA1188", "gene_names_refseq": "CLMN", "protein_names_uniprotkb": "Calmin; Calponin-like transmembrane domain protein", "protein_names_refseq": "calmin (calponin-like, transmembrane); calmin; calponin-like transmembrane domain protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:79789)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "11237011;11386753;18669648;20339536;24275569;26992070;28218747;28228285;28411811;28834231;28904123;29242379;29437277;29557506;31844290;32350084;32938616;32983136;33298915;33592498;33912179;33968037;33981976;35051231;35580925;36010968", "class_list": "", "function": "Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) 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": 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": 0, "reported_glycation": 0, "reported_snv": 41, "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": "B2RAR7;Q9H713;Q9HA23;Q9HA57;Q9UFP4;Q9ULN2", "ec_number_list": "", "go_molecular_function": "GO:0051015 actin filament binding;GO:0003779 actin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005640 nuclear outer membrane;GO:0034993 meiotic nuclear membrane microtubule tethering complex;GO:0016020 membrane", "go_biological_process": "GO:0008285 negative regulation of cell population proliferation;GO:0007097 nuclear migration", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q96JQ2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N9A8-1", "uniprot_id": "NEPR1_HUMAN", "mass": 14267.0, "length": 125, "protein_name": "Nuclear envelope phosphatase-regulatory subunit 1", "gene_name": "CNEP1R1", "organism": "Human", "refseq_name": "nuclear envelope phosphatase-regulatory subunit 1 isoform 2", "refseq_ac": "NP_001268718", "gene_names_uniprotkb": "CNEP1R1; C16orf69; TMEM188", "gene_names_refseq": "C16orf69; CNEP1R1; NEP1-R1; NEP1R1; TMEM188; TMP125", "protein_names_uniprotkb": "Nuclear envelope phosphatase-regulatory subunit 1; NEP1-R1; Transmembrane protein 188", "protein_names_refseq": "nuclear envelope phosphatase 1-regulatory subunit 1; nuclear envelope phosphatase-regulatory subunit 1 isoform 2; nuclear envelope phosphatase-regulatory subunit 1; transmembrane protein 188", "tax_id": 9606, "disease": "", "pathway": " (hsa:255919); (R-HSA-4419969)", "pathway_count": 2, "publication_count": 28, "publication_id_list": "11237011;15889145;16861033;17158099;17420445;18694939;19494125;19494126;20876142;21081492;21413788;2188730;2188731;22134922;22986494;2344612;25548215;28832583;29242379;31844290;31848261;32157095;34357683;35051231;37217939;38776370;8034666;8463284", "class_list": "", "function": "Forms with the serine/threonine protein phosphatase CTDNEP1 an active complex which dephosphorylates and may activate LPIN1 and LPIN2. LPIN1 and LPIN2 are phosphatidate phosphatases that catalyze the conversion of phosphatidic acid to diacylglycerol and control the metabolism of fatty acids at different levels. May indirectly modulate the lipid composition of nuclear and/or endoplasmic reticulum membranes and be required for proper nuclear membrane morphology and/or dynamics. May also indirectly regulate the production of lipid droplets and triacylglycerol., [UniProtKB, PubMed]; Nuclear envelope phosphatase 1-regulatory subunit 1 (formerly TMEM188) is the metazoan Spo7p ortholog and functions in the lipin activation pathway., [RefSeq, PubMed]; Structure and mechanism of the human CTDNEP1-NEP1R1 membrane protein phosphatase complex necessary to maintain ER membrane morphology., [RefSeq, PubMed]; The endoplasmic reticulum adaptor protein ERAdP initiates NK cell activation via the Ubc13-mediated NF-kappaB pathway., [RefSeq, PubMed]; This gene encodes a transmembrane protein that belongs to the Tmemb_18A family. A similar protein in yeast is a component of an endoplasmic reticulum-associated protein phosphatase complex and is thought to play a role in the synthesis of triacylglycerol. 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": 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": "Q4G1A9;Q5H9V0;Q8NE06", "ec_number_list": "", "go_molecular_function": "GO:0019888 protein phosphatase regulator activity", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0031965 nuclear membrane;GO:0071595 Nem1-Spo7 phosphatase complex", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0034504 protein localization to nucleus;GO:0010867 positive regulation of triglyceride biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q8N9A8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P55290-1", "uniprot_id": "CAD13_HUMAN", "mass": 78287.0, "length": 713, "protein_name": "Cadherin-13", "gene_name": "CDH13", "organism": "Human", "refseq_name": "cadherin-13 isoform 3 precursor", "refseq_ac": "NP_001207418", "gene_names_uniprotkb": "CDH13; CDHH", "gene_names_refseq": "CDH13; CDHH; P105", "protein_names_uniprotkb": "Cadherin-13; H-cadherin; Heart cadherin; P105; T-cadherin; T-cad; Truncated cadherin", "protein_names_refseq": "T-cadherin; cadherin 13, H-cadherin (heart); cadherin-13 isoform 3 precursor; heart cadherin", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); urinary bladder cancer (Disease Ontology:DOID:11054); breast cancer (Disease Ontology:DOID:1612); arteriosclerosis (Disease Ontology:DOID:2349); ovarian cancer (Disease Ontology:DOID:2394); endometrial carcinoma (Disease Ontology:DOID:2871); substance-related disorder (Disease Ontology:DOID:303); breast carcinoma (Disease Ontology:DOID:3459); lung non-small cell carcinoma (Disease Ontology:DOID:3908); coronary restenosis (Disease Ontology:DOID:4247); cervical cancer (Disease Ontology:DOID:4362)", "pathway": " (hsa:1012); (R-HSA-418990)", "pathway_count": 2, "publication_count": 54, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10225955;10737605;11027617;11237011;12050160;14729458;16099944;16150497;16335952;16467305;17566972;17967169;19159218;19354288;19463088;20039275;21220648;23481700;23584533;24715725;25372031;25576301;27726376;28228285;28657654;29242379;29391424;29557506;30315122;30429286;31217245;31222486;31844290;32157095;32161166;32502341;32938616;33392160;33592498;35051231;35289036;35494241;36241641;37074911;38665916;7806582;7982033;8673923;9219219;9468307;9737784;9845526", "class_list": "", "function": "Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. May act as a negative regulator of neural cell growth., [UniProtKB, PubMed]; Coating of culture plates with recombinant T-cad protein or with antibody against the first amino-terminal domain of T-cad (anti-EC1) significantly decreased adhesion and spreading of smooth muscle cells and HUVEC., [RefSeq, PubMed]; Data implicate T-cadherin in regulation of endothelial barrier function, and suggest a complex signaling network that links T-cadherin and regulation of barrier function., [RefSeq, PubMed]; T-cad overexpression in vascular endothelial cells protects against stress-induced apoptosis through activation of the PI3K/Akt/mTOR survival signal pathway and concomitant suppression of the p38 MAPK proapoptotic pathway, [RefSeq, PubMed]; T-cadherin transcriptionally activated Rac1 and Cdc42., [RefSeq, PubMed]; This gene encodes a member of the cadherin superfamily. The encoded protein is localized to the surface of the cell membrane and is anchored by a GPI moiety, rather than by a transmembrane domain. The protein lacks the cytoplasmic domain characteristic of other cadherins, and so is not thought to be a cell-cell adhesion glycoprotein. This protein acts as a negative regulator of axon growth during neural differentiation. It also protects vascular endothelial cells from apoptosis due to oxidative stress, and is associated with resistance to atherosclerosis. The gene is hypermethylated in many types of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 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": 8, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 8, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 8, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 8, "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": 41, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 81, "disease_count": 11, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "A8W476;A8W477;B7Z590;C9JRI6;J3KN62;Q6GTW4;Q8TBX3", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0005509 calcium ion binding;GO:0045296 cadherin binding;GO:0008013 beta-catenin binding;GO:0071813 lipoprotein particle binding", "go_cellular_component": "GO:0098982 GABA-ergic synapse;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:0007162 negative regulation of cell adhesion;GO:0008285 negative regulation of cell population proliferation;GO:0016477 cell migration;GO:0030100 regulation of endocytosis;GO:0030335 positive regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 14.7, "record_id": "P55290-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95476-1", "uniprot_id": "CNEP1_HUMAN", "mass": 28377.0, "length": 244, "protein_name": "CTD nuclear envelope phosphatase 1", "gene_name": "CTDNEP1", "organism": "Human", "refseq_name": "CTD nuclear envelope phosphatase 1", "refseq_ac": "NP_001137247", "gene_names_uniprotkb": "CTDNEP1; DULLARD", "gene_names_refseq": "CTDNEP1; DULLARD; HSA011916; NET56", "protein_names_uniprotkb": "CTD nuclear envelope phosphatase 1; 3.1.3.16; Serine/threonine-protein phosphatase dullard", "protein_names_refseq": "C-terminal domain nuclear envelope phosphatase 1; CTD nuclear envelope phosphatase 1; dullard homolog; serine/threonine-protein phosphatase dullard", "tax_id": 9606, "disease": "", "pathway": " (hsa:23399); (R-HSA-4419969)", "pathway_count": 2, "publication_count": 65, "publication_id_list": "11237011;12083771;15889145;16533400;16861033;17158099;17420445;18669648;18694939;19494125;19494126;20876142;21081492;21413788;2188730;2188731;22134922;22986494;2344612;25576301;25944354;26992070;27846572;28228285;28287811;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29786170;30315122;30429286;30484775;30524438;31020640;31154438;31217245;31844290;32157095;32271860;32357974;32387766;32502341;32897882;32938616;32983136;33717175;33912179;34171305;34357683;34932366;35051231;35154160;35580925;36010968;36215666;36241641;36765089;37938771;38776370;8034666;8463284", "class_list": "", "function": "CTDNEP1 is upregulated in non-alcoholic fatty liver disease. Up-regulation of miR-122 can trigger the compensatory response of LPIN1 and CTDNEP1 in hepatosteatosis., [RefSeq, PubMed]; Dullard participates in a unique phosphatase cascade regulating nuclear membrane biogenesis, a cascade that is conserved from yeast to mammals., [RefSeq, PubMed]; Dullard shows specificity for the peptide corresponding to the insulin-dependent phosphorylation site (Ser106) of lipin, [RefSeq, PubMed]; Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane., [UniProtKB, UniProtKB]; Loss of phosphatase CTDNEP1 potentiates aggressive medulloblastoma by triggering MYC amplification and genomic instability. Publication Status: Online-Only, [RefSeq, PubMed]; Regulated lipid synthesis and LEM2/CHMP7 jointly control nuclear envelope closure., [RefSeq, PubMed]; Serine/threonine protein phosphatase forming with CNEP1R1 an active phosphatase complex that dephosphorylates and may activate LPIN1 and LPIN2. LPIN1 and LPIN2 are phosphatidate phosphatases that catalyze the conversion of phosphatidic acid to diacylglycerol and control the metabolism of fatty acids at different levels. May indirectly modulate the lipid composition of nuclear and/or endoplasmic reticulum membranes and be required for proper nuclear membrane morphology and/or dynamics. May also indirectly regulate the production of lipid droplets and triacylglycerol. May antagonize BMP signaling., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Structure and mechanism of the human CTDNEP1-NEP1R1 membrane protein phosphatase complex necessary to maintain ER membrane morphology., [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": 2, "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": "D3DTN7;Q96GQ9", "ec_number_list": "3.1.3.16;3.1.3.48;3.1.3.-;3.1.3.67;3.1.3.53;3.1.3.4;3.1.3.52;3.1.3.27;3.1.3.86;3.1.3.36;3.1.3.74", "go_molecular_function": "GO:0004722 protein serine/threonine phosphatase activity;GO:0004721 phosphoprotein phosphatase activity", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005737 cytoplasm;GO:0031965 nuclear membrane;GO:0005789 endoplasmic reticulum membrane;GO:0071595 Nem1-Spo7 phosphatase complex", "go_biological_process": "GO:0007077 mitotic nuclear membrane disassembly;GO:0006470 protein dephosphorylation;GO:0034504 protein localization to nucleus;GO:0006998 nuclear envelope organization;GO:0010867 positive regulation of triglyceride biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "O95476-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6PI25-1", "uniprot_id": "CNIH2_HUMAN", "mass": 18931.0, "length": 160, "protein_name": "Protein cornichon homolog 2", "gene_name": "CNIH2", "organism": "Human", "refseq_name": "protein cornichon homolog 2", "refseq_ac": "NP_872359", "gene_names_uniprotkb": "CNIH2; CNIL", "gene_names_refseq": "CNIH-2; CNIH2; Cnil", "protein_names_uniprotkb": "Protein cornichon homolog 2; CNIH-2; Cornichon family AMPA receptor auxiliary protein 2; Cornichon-like protein", "protein_names_refseq": "cornichon homolog 2; protein cornichon homolog 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:254263); (R-HSA-204005); (R-HSA-5694530)", "pathway_count": 3, "publication_count": 84, "publication_id_list": "10445031;10559958;10559959;10652252;10679020;10747087;10788476;10825291;10903204;10982397;11035026;11237011;11285137;11306556;11927603;12070132;12235121;12237308;15037235;16129679;16303754;16495487;16624868;16912714;17005010;17010120;17038314;17192411;17287728;17316621;17499046;17562788;17607000;17684057;18025080;18283111;18287528;18843296;19164740;19265014;19269366;19566487;19638414;19656848;20427317;20477988;20533886;20545907;20679433;20805473;20966969;21478858;21525241;21532587;21689688;21878990;22013193;22157747;22675024;23103966;23378591;23479643;23698585;23852824;23864707;24119662;24917561;25202031;25406594;25492864;25586378;25619252;25619253;38718887;8221884;8620540;8663406;9094723;9150144;9177194;9307973;9395526;9472029;9647643", "class_list": "", "function": "CPSF3 regulates alternative polyadenylation of CNIH2 to promote esophageal squamous cell carcinoma progression., [RefSeq, PubMed]; Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by regulating their rates of activation, deactivation and desensitization. Blocks CACNG8-mediated resensitization of AMPA receptors., [UniProtKB, PubMed]; Significant upregulation of CNIH-2 mRNA expression was found in schizophrenia., [RefSeq, PubMed]; The protein encoded by this gene is an auxiliary subunit of the ionotropic glutamate receptor of the AMPA subtype. AMPA receptors mediate fast synaptic neurotransmission in the central nervous system. This protein has been reported to interact with the Type I AMPA receptor regulatory protein isoform gamma-8 to control assembly of hippocampal AMPA receptor complexes, thereby modulating receptor gating and pharmacology. 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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:0005102 signaling receptor binding", "go_cellular_component": "GO:0014069 postsynaptic density;GO:0030425 dendrite;GO:0043197 dendritic spine;GO:0043198 dendritic shaft;GO:0045202 synapse", "go_biological_process": "GO:0035249 synaptic transmission, glutamatergic;GO:0016192 vesicle-mediated transport;GO:2000311 regulation of AMPA receptor activity", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "Q6PI25-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5BN46-1", "uniprot_id": "PIRC1_HUMAN", "mass": 15260.0, "length": 136, "protein_name": "Piercer of microtubule wall 1 protein", "gene_name": "PIERCE1", "organism": "Human", "refseq_name": "piercer of microtubule wall 1 protein isoform 1", "refseq_ac": "NP_001041730", "gene_names_uniprotkb": "PIERCE1", "gene_names_refseq": "C9orf116; PIERCE1; RbEST47", "protein_names_uniprotkb": "Piercer of microtubule wall 1 protein; Pierce1; UPF0691 protein C9orf116; p53-induced expression in RB-null cells protein 1", "protein_names_refseq": "UPF0691 protein C9orf116; p53-induced expression 1 in Rb-/- cells; p53-induced expression 1 in Rba^'/a^' cells; p53-induced expression in RB-null cells protein 1; pierce 1; piercer of microtubule wall 1 protein isoform 1; piercer of microtubule wall 1 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:138162)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "10.1101/2023.09.13.557529;11237011;18182857;25880248;26992070;28834231;29242379;29393594;32161166;32745107;32983136;33912179;33981976;35580925;36191189", "class_list": "", "function": "Divergence of the PIERCE1 expression between mice and humans as a p53 target gene. Publication Status: Online-Only, [RefSeq, PubMed]; Microtubule inner protein involved in the attachment of outer dynein arms (ODAs) to dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (PubMed:36191189). Functions at the initial step of left-right asymmetry specification of the visceral organs., [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": 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": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5T897;Q8WU44", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0036126 sperm flagellum;GO:0005879 axonemal microtubule;GO:0160111 axonemal A tubule inner sheath", "go_biological_process": "GO:0030317 flagellated sperm motility;GO:0007368 determination of left/right symmetry;GO:0003341 cilium movement;GO:0035082 axoneme assembly;GO:0061966 establishment of left/right asymmetry", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q5BN46-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75829-1", "uniprot_id": "CNMD_HUMAN", "mass": 37102.0, "length": 334, "protein_name": "Leukocyte cell-derived chemotaxin 1", "gene_name": "CNMD", "organism": "Human", "refseq_name": "leukocyte cell-derived chemotaxin 1 isoform 2 precursor", "refseq_ac": "NP_001011705", "gene_names_uniprotkb": "CNMD; CHMI; LECT1; MYETS1", "gene_names_refseq": "BRICD3; CHM-I; CHM1; CNMD; LECT1; MYETS1", "protein_names_uniprotkb": "Leukocyte cell-derived chemotaxin 1; ChM-I; Chondromodulin-I; Chondromodulin", "protein_names_refseq": "BRICHOS domain containing 3; chondromodulin-1; chondromodulin-I; leukocyte cell derived chemotaxin 1; leukocyte cell-derived chemotaxin 1 isoform 2 precursor; multiple myeloma tumor suppressor 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:11061)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "10103018;10570955;10912526;11237011;16980969;23481700;25576301;25892735;27035228;27281613;28319320;28638739;28983591;31595395;35051231;36428578;9731231", "class_list": "", "function": "Bifunctional growth regulator that stimulates the growth of cultured chondrocytes in the presence of basic fibroblast growth factor (FGF) but inhibits the growth of cultured vascular endothelial cells. May contribute to the rapid growth of cartilage and vascular invasion prior to the replacement of cartilage by bone during endochondral bone development. Inhibits in vitro tube formation and mobilization of endothelial cells. Plays a role as antiangiogenic factor in cardiac valves to suppress neovascularization., [UniProtKB, PubMed, UniProtKB, UniProtKB]; CHM1 seems to have pleiotropic functions in Ewing sarcoma., [RefSeq, PubMed]; ChMI directly suppressed the proliferation and growth of osteosarcoma cells., [RefSeq, PubMed]; Chondromodulin-1 and vascular endothelial growth factor-A expression in esophageal squamous cell carcinoma: accelerator and brake theory for angiogenesis at the early stage of cancer progression., [RefSeq, PubMed]; The results of the present study indicated that ChMI was able to inhibit the growth of breast cancer cells; thus suggesting that ChM-I may have potential clinical applications in the treatment of breast cancer., [RefSeq, PubMed]; This gene encodes a glycosylated transmembrane protein that is cleaved to form a mature, secreted protein. The N-terminus of the precursor protein shares characteristics with other surfactant proteins and is sometimes called chondrosurfactant protein although no biological activity has yet been defined for it. The C-terminus of the precursor protein contains a 25 kDa mature protein called leukocyte cell-derived chemotaxin-1 or chondromodulin-1. The mature protein promotes chondrocyte growth and inhibits angiogenesis. This gene is expressed in the avascular zone of prehypertrophic cartilage and its expression decreases during chondrocyte hypertrophy and vascular invasion. The mature protein likely plays a role in endochondral bone development by permitting cartilaginous anlagen to be vascularized and replaced by bone. It may be involved also in the broad control of tissue vascularization during development. Alternative splicing results in multiple transcript variants encoding different isoforms. [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": 9, "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": "Q5TAM4;Q8TAY6;Q9UM18", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0012505 endomembrane system", "go_biological_process": "GO:0030154 cell differentiation;GO:0001501 skeletal system development;GO:0001937 negative regulation of endothelial cell proliferation;GO:0016525 negative regulation of angiogenesis;GO:0051216 cartilage development", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "O75829-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IWV2-1", "uniprot_id": "CNTN4_HUMAN", "mass": 113454.0, "length": 1026, "protein_name": "Contactin-4", "gene_name": "CNTN4", "organism": "Human", "refseq_name": "contactin-4 isoform a precursor", "refseq_ac": "NP_001193884", "gene_names_uniprotkb": "CNTN4", "gene_names_refseq": "AXCAM; BIG-2; CNTN4", "protein_names_uniprotkb": "Contactin-4; BIG-2; Brain-derived immunoglobulin superfamily protein 2", "protein_names_refseq": "axonal-associated cell adhesion molecule; brain-derived immunoglobulin superfamily protein 2; contactin-4 isoform a precursor; neural cell adhesion protein BIG-2", "tax_id": 9606, "disease": "acrokeratosis verruciformis (Disease Ontology:DOID:0050606); Brody myopathy (Disease Ontology:DOID:0050692); essential hypertension (Disease Ontology:DOID:10825); heart disease (Disease Ontology:DOID:114); abdominal obesity-metabolic syndrome 1 (Disease Ontology:DOID:14221); hypothyroidism (Disease Ontology:DOID:1459); keratosis follicularis (Disease Ontology:DOID:2734); euthyroid sick syndrome (Disease Ontology:DOID:2856); congestive heart failure (Disease Ontology:DOID:6000); pulmonary hypertension (Disease Ontology:DOID:6432); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:152330); (R-HSA-163125)", "pathway_count": 2, "publication_count": 30, "publication_id_list": "11013081;11072085;11237011;12202991;14571131;15106122;16335952;16959974;17030759;17915252;18349135;19651622;20133774;24190977;2443973;28218747;28938490;29258006;29391424;29437277;29671580;29741879;32357974;33968037;3422494;35051231;35494241;36010968;37074911;38745463", "class_list": "", "function": "CNTN4 modulates neural elongation through interplay with APP., [RefSeq, PubMed]; Contactins mediate cell surface interactions during nervous system development. Has some neurite outgrowth-promoting activity. May be involved in synaptogenesis., [UniProtKB]; High CNTN4 expression is associated with Pheochromocytomas and Paragangliomas., [RefSeq, PubMed]; Our results demonstrate the association of CNTN4 disruption with the 3p deletion syndrome phenotype and strongly suggest a causal relationship, [RefSeq, PubMed]; PPARGC1B and CNTN4 genotypes are associated with elevated thromboxane A2 formation and with an excess of cardiovascular events. Aspirin appears to blunt these associations., [RefSeq, PubMed]; Pathological examinations and molecular biological examinations are needed to confirm that this mutation is a true cause of SCA16 GeneRIF: Observational study of genotype prevalence. (HuGE Navigator), [RefSeq, PubMed]; The contactin 4 gene (CNTN4) is associated with cerebellar degeneration in spinocerebellar ataxia type 16. Additional studies are necessary to prove 4,256C-->T to be a causative mutation., [RefSeq, PubMed]; This gene encodes a member of the contactin family of immunoglobulins. Contactins are axon-associated cell adhesion molecules that function in neuronal network formation and plasticity. The encoded protein is a glycosylphosphatidylinositol-anchored neuronal membrane protein that may play a role in the formation of axon connections in the developing nervous system. Deletion or mutation of this gene may play a role in 3p deletion syndrome and autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]., [RefSeq]; This report suggests that mutations affecting CNTN4 function may be relevant to Autism spectrum disorder pathogenesis., [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": 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": 9, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 9, "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": 82, "reported_interactions": 0, "missing_score": 8593, "biomarker_type": "", "glycan_count": 32, "disease_count": 11, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "B2RAX3;Q8IX14;Q8TC35", "ec_number_list": "", "go_molecular_function": "GO:0098632 cell-cell adhesion mediator activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0030424 axon;GO:0045202 synapse;GO:0098552 side of membrane", "go_biological_process": "GO:0007399 nervous system development;GO:0007409 axonogenesis;GO:0031175 neuron projection development;GO:0045665 negative regulation of neuron differentiation;GO:0050808 synapse organization", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q8IWV2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0C0L4-1", "uniprot_id": "CO4A_HUMAN", "mass": 192785.0, "length": 1744, "protein_name": "Complement C4-A", "gene_name": "C4A", "organism": "Human", "refseq_name": "complement C4-A isoform 2 preproprotein", "refseq_ac": "NP_001239133", "gene_names_uniprotkb": "C4A; CO4; CPAMD2", "gene_names_refseq": "C4A2; C4A3; C4A4; C4A6; C4AD; C4A; C4S; C4; CO4; CPAMD2; RG", "protein_names_uniprotkb": "Complement C4-A; Acidic complement C4; C3 and PZP-like alpha-2-macroglobulin domain-containing protein 2; Complement C4b-alpha' chain", "protein_names_refseq": "C3 and PZP-like alpha-2-macroglobulin domain-containing protein 2; C4A anaphylatoxin; MHC class III region complement; Rodgers form of C4; acidic C4; acidic complement C4; complement C4-A isoform 2 preproprotein; complement C4-A; complement C4A (Rodgers blood group); complement component 4A (Rodgers blood group)", "tax_id": 9606, "disease": "C1 inhibitor deficiency (Disease Ontology:DOID:0060002); complement component 4a deficiency (Disease Ontology:DOID:0060297); vitiligo (Disease Ontology:DOID:12306); Graves' disease (Disease Ontology:DOID:12361); renal cell carcinoma (Disease Ontology:DOID:4450); systemic lupus erythematosus (Disease Ontology:DOID:9074)", "pathway": " (hsa:720); (hsa:721); (R-HSA-166663); (R-HSA-174577); (R-HSA-381426); (R-HSA-8957275); (R-HSA-977606); (R-HSA-9920588)", "pathway_count": 8, "publication_count": 263, "publication_id_list": "10.1101/2023.09.13.557529;10026136;10077652;10092831;10218588;10512690;10531307;10614670;1067618;10681634;10810289;10898936;10912521;10925294;10951195;10990447;11158056;11237011;11250653;11264294;11316783;11367523;11522292;11527969;11606061;11694537;11739083;11751371;11788658;11939578;12055245;12241545;12367531;12379487;12396008;12466191;12754519;12810533;12878586;12904166;1370451;1383255;1386357;14280442;14760718;15126567;15199963;15308688;15469690;15485880;15525596;15642270;1573268;16079145;16169853;16192651;16335952;1699796;16999828;17047378;17132627;17182573;17249697;17312271;1740458;17503323;17505110;17985932;17989688;18204047;18496526;18780401;19139490;19159218;19562805;19615748;19664994;19754307;19838169;1988494;21081667;21566123;21788512;22691502;22802338;22949645;23090970;23234360;23487775;23719902;2387864;2395880;24173023;24190977;2420889;2431902;24530628;2465906;2466593;24715725;2476804;2479552;2481448;25576301;25645385;25659340;25892735;25911760;26091039;26154972;26814963;27252379;27452731;27599733;27726376;27738201;27832191;27862975;28228285;28514659;28649982;28657654;28764923;29242379;29314611;29331515;293688;293746;29508533;29557506;2956252;29632711;29649283;29671580;2971659;29741879;29786170;29789417;301546;30315122;30429286;30459171;30484775;30524438;30550790;30573663;30779550;31147461;31154438;31492838;31844290;31848261;31867016;32065623;32125861;32152943;32157095;32350084;32373127;32387766;32432721;32488085;32769120;32778820;32938616;32983136;33043033;33123756;33141586;33592498;33633747;33936100;33968037;33981976;34171305;34185709;34211107;34357683;34509645;34725484;35051231;35154160;35251023;35428691;35494241;35580925;36010968;36127336;36215666;36284347;3696167;37938771;3838531;3848661;38594415;38665916;3874204;3944109;39814882;39914456;4098172;4424566;467643;6019133;6167582;6214588;6219696;6222381;6230668;6238120;6319179;6334079;6454142;6546707;6572000;6577433;6607952;670886;6832377;6906228;6950384;6978711;702059;70787;7391570;7391573;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7542572;7543116;7588299;760802;761607;7683646;7689487;7690834;7691959;76991;8012361;8345200;8473511;8495193;8538770;8781553;8786315;8817670;8894645;8964575;9038722;9171898;9422791;9497324;9709957;9733769;9759862;978134;9786878;9922210", "class_list": "", "function": "Complement components C3a and C4a, but not C5a, display antimicrobial activity against P. aeruginosa, E. coli, B. subtilis, and C. albicans., [RefSeq, PubMed]; Low C4A copy numbers and higher HERV gene insertion contributes to increased risk of SLE, with absence of association with disease phenotype and disease activity., [RefSeq, PubMed]; Non-enzymatic component of C3 and C5 convertases (PubMed:8538770). Generated following cleavage by complement proteases (C1S, MASP2 or GZMK, depending on the complement pathway), it covalently attaches to the surface of pathogens, where it acts as an opsonin that marks the surface of antigens for removal (PubMed:27738201, PubMed:8538770). It then recruits the serine protease complement C2b to form the C3 and C5 convertases, which cleave and activate C3 and C5, respectively, the next components of the complement pathways (PubMed:12878586, PubMed:18204047, PubMed:2387864, PubMed:6906228). Complement C4b-A isotype is responsible for effective binding to form amide bonds with immune aggregates or protein antigens, while complement C4b-B isotype catalyzes the transacylation of the thioester carbonyl group to form ester bonds with carbohydrate antigens (PubMed:8538770)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Precursor of non-enzymatic components of the classical, lectin and GZMK complement pathways, which consist in a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive immune system., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Putative humoral mediator released following cleavage by complement proteases (C1S, MASP2 or GZMK, depending on the complement pathway). While it is strongly similar to anaphylatoxins, its role is unclear. Was reported to act as a mediator of local inflammatory process; however these effects were probably due to contamination with C3a and/C5a anaphylatoxins in biological assays., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; This gene encodes the acidic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain is cleaved to release C4 anaphylatoxin, an antimicrobial peptide and a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus and type I diabetes mellitus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 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": 4, "reported_o_glycosites": 2, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "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": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 47, "disease_count": 6, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "A6H8M8;A6NHJ5;A7E2V2;B0QZR6;B0V2C8;B2RUT6;B7ZVZ6;P01028;P78445;Q13160;Q13906;Q14033;Q14835;Q4LE82;Q5JNX2;Q5JQM8;Q6P4R1;Q6U2E5;Q6U2E8;Q6U2F0;Q6U2F3;Q6U2F4;Q6U2F6;Q6U2F8;Q6U2G0;Q96EG2;Q96SA8;Q9NPK5;Q9UIP5", "ec_number_list": "", "go_molecular_function": "GO:0004866 endopeptidase inhibitor activity;GO:0001849 complement component C1q complex binding;GO:0001848 complement binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0006954 inflammatory response;GO:0006958 complement activation, classical pathway;GO:0006956 complement activation;GO:2000427 positive regulation of apoptotic cell clearance;GO:0160257 complement activation, GZMK pathway", "synthesized_glycan_count": 0, "hit_score": 32.2, "record_id": "P0C0L4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P47755-1", "uniprot_id": "CAZA2_HUMAN", "mass": 32949.0, "length": 286, "protein_name": "F-actin-capping protein subunit alpha-2", "gene_name": "CAPZA2", "organism": "Human", "refseq_name": "F-actin-capping protein subunit alpha-2", "refseq_ac": "NP_006127", "gene_names_uniprotkb": "CAPZA2", "gene_names_refseq": "CAPPA2; CAPZA2; CAPZ", "protein_names_uniprotkb": "F-actin-capping protein subunit alpha-2; CapZ alpha-2", "protein_names_refseq": "F-actin capping protein alpha-2 subunit; F-actin-capping protein subunit alpha-2; capZ alpha-2; capping actin protein of muscle Z-line alpha subunit 2; capping protein (actin filament) muscle Z-line, alpha 2; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "intellectual disability (Disease Ontology:DOID:1059)", "pathway": " (hsa:830); (R-HSA-2132295); (R-HSA-3371497); (R-HSA-6807878); (R-HSA-6811436); (R-HSA-879415); (R-HSA-9662360); (R-HSA-983231)", "pathway_count": 8, "publication_count": 379, "publication_id_list": "10025409;10036229;10052452;10064083;10072072;10318838;10359595;10445031;10480952;10531386;10540230;10559959;10559986;10562278;10593899;10631941;10631952;10639150;10679020;10747884;10748235;10761932;10809954;10903204;10921873;11035033;11042108;11062261;11080672;11163272;11172815;11237011;11242053;11285137;11306556;11461920;11483508;11529500;11589254;11684289;11689559;11701661;11703931;11726511;11744692;11748249;11751636;11751894;11790530;11813165;11853874;11895428;11950885;12032298;12047556;12070132;12078484;12134158;12198549;12388752;12401177;12427746;12432908;12447383;12470955;12634853;12665801;12742663;12748383;12781197;12925777;12935895;13486053;14654841;14731593;14742712;1493716;15020713;15037235;15159550;15247287;15381148;15483056;15591061;15616190;15632110;15710388;15728195;15749704;15813748;15850461;15878873;15911768;15914536;16030262;16054028;16181339;16207721;16242130;1630448;1631136;16314391;16403413;1651976;16618111;16633337;16723730;1680566;16824007;16912714;16926190;16940185;17027967;17142755;17196961;17253781;17274799;17283181;17360540;17429068;17451557;17488286;17591767;17760859;17804755;17827179;17927562;17956946;18046453;18086915;18182008;18215318;18243712;18254226;18283113;18292509;18524849;18635947;18641641;18664496;18809720;1898986;19015319;19109418;19164740;19293402;19296914;19359544;19413330;1956401;19564404;1957170;19615748;19631211;19635840;19651622;19753100;19758564;19922875;20006655;20038533;20058876;20068231;20072699;20357002;20420828;20427317;20530532;20627800;20637885;21116285;21158691;21173190;21183720;2121367;21219331;21376746;21441454;21689688;21700222;21796517;21844168;218813;2190094;21993680;22011577;22013193;22094269;22130221;22223895;22266222;22304919;22318716;22433123;22562055;22791416;23186163;23333653;23481700;23783758;23839779;2391366;24012426;24119662;24694367;24806965;24891604;25233431;25418920;25436559;25453831;25492864;25645385;25802875;26073023;26154972;26203193;26313416;26375851;26811146;26845023;26929215;26992070;27452731;27462449;27543614;27663436;27846572;27862975;27920218;28063628;28083797;28218747;28228285;28301631;28514659;28649982;28755533;28832583;28834231;28904123;28919297;29242379;29314611;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30197098;30315122;30361697;30410026;30429286;30833945;31110491;31141847;31154438;31530632;31731497;31826031;31844290;31848261;32016915;32157095;32320027;32350084;32357974;32387766;32448030;32488085;32502341;32544881;32897882;32938616;32982970;32983136;33141586;33537174;33592498;33633747;33912179;33968037;33981976;34087483;3409321;34185709;34357683;34509645;34561969;34796874;35051231;35154160;35561310;35580925;36010968;36241641;36284347;37938771;38374166;38665916;39990658;40914422;40930100;6645495;6891012;7481823;7592972;7650016;7665558;7667286;7691276;8001155;8046351;8128252;8132710;8134367;8145819;8148318;8157723;8221884;8253837;8282004;8313912;8397411;8415765;8505331;8529130;8560673;8620540;8636227;8642258;8662638;8687433;8816476;8849454;8909537;8939989;8947036;8991093;9030515;9050864;9065479;9075930;9114004;9150144;9177194;9202021;9230307;9244307;9288971;9311912;9312039;9323141;9326583;9331217;9380700;9382863;9405360;9422515;9464360;9464361;9490716;9497313;9539769;9545226;9606180;9667968;9671725;9671731;9733780;9751720;9927674;9990005", "class_list": "", "function": "Capping protein regulates endosomal trafficking by controlling F-actin density around endocytic vesicles and recruiting RAB5 effectors. Publication Status: Online-Only, [RefSeq, PubMed]; F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review. Review article, [RefSeq, PubMed]; The protein encoded by this gene is a member of the F-actin capping protein alpha subunit family. It is the alpha subunit of the barbed-end actin binding protein Cap Z. By capping the barbed end of actin filaments, Cap Z regulates the growth of the actin filaments at the barbed 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": 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": "B4DG50", "ec_number_list": "", "go_molecular_function": "GO:0051015 actin filament binding;GO:0003779 actin binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005829 cytosol;GO:0005903 brush border;GO:0015629 actin cytoskeleton;GO:0016020 membrane", "go_biological_process": "GO:0030036 actin cytoskeleton organization;GO:0051016 barbed-end actin filament capping;GO:0065003 protein-containing complex assembly", "synthesized_glycan_count": 0, "hit_score": 38.2, "record_id": "P47755-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9GZY4-1", "uniprot_id": "COA1_HUMAN", "mass": 16694.0, "length": 146, "protein_name": "Cytochrome c oxidase assembly factor 1 homolog", "gene_name": "COA1", "organism": "Human", "refseq_name": "cytochrome c oxidase assembly factor 1 homolog isoform a", "refseq_ac": "NP_001308126", "gene_names_uniprotkb": "COA1; C7orf44; MITRAC15", "gene_names_refseq": "C7orf44; COA1; MITRAC15", "protein_names_uniprotkb": "Cytochrome c oxidase assembly factor 1 homolog; Mitochondrial translation regulation assembly intermediate of cytochrome c oxidase protein of 15 kDa", "protein_names_refseq": "cytochrome c oxidase assembly factor 1 homolog isoform a; cytochrome c oxidase assembly factor 1 homolog; cytochrome c oxidase assembly protein 1 homolog; mitochondrial translation regulation assembly intermediate of cytochrome c oxidase protein of 15 kDa", "tax_id": 9606, "disease": "", "pathway": " (hsa:55744); (R-HSA-611105); (R-HSA-6799198); (R-HSA-9864848)", "pathway_count": 4, "publication_count": 86, "publication_id_list": "10327278;11220739;11237011;11695836;12231006;12837546;1327877;14741580;15250827;16230336;17033964;17936786;186667;19503089;19752196;20406883;20552642;20858599;21924235;22342701;22356826;23125284;23150584;23260140;23270816;23345593;23481700;23553477;23564345;23746447;23747254;239860;24191001;24403053;25564869;25678554;25892735;25926683;25959673;26321642;26375851;26655997;26992070;27499296;27626371;27693358;28082314;28199844;28218747;28330871;28904123;29154948;29437277;29557506;30315122;30410026;31536960;31666358;31721420;31844290;31866046;32157095;32161166;32317297;32320651;32350084;32357974;32375044;32938616;33879611;33882309;33968037;34081057;34171305;34405274;34969438;35251023;35333655;35580925;35614220;35750769;38199007;4288886;9571201;9843204;9878551", "class_list": "", "function": "Association of COA1 with Patellar Tendonitis: A Genome-wide Association Analysis., [RefSeq, PubMed]; 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 assembly of mitochondrial respiratory chain complex I and complex IV (PubMed:23260140). As part of the MCIA complex, required for efficient assembly of the mitochondrial complex I (PubMed:32320651)., [UniProtKB, PubMed, PubMed]; Human ortholog of fungal COA1 (Cytochrome Oxidase Assembly 1) GeneRIF: Encodes a mitochondrial protein Publication Status: Online-Only, [RefSeq, PubMed]; MITRAC15/COA1 promotes mitochondrial translation in a ND2 ribosome-nascent chain complex., [RefSeq, PubMed]; Restoration of miR-127-3p and miR-376a-3p counteracts the neoplastic phenotype of giant cell tumor of bone derived stromal cells by targeting COA1, GLE1 and PDIA6., [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": "A6NJU8;A8KAH8;Q9HAB7;Q9NVD2", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0160295 mitochondrial complex I intermediate assembly complex", "go_biological_process": "GO:0032981 mitochondrial respiratory chain complex I assembly;GO:0033617 mitochondrial respiratory chain complex IV assembly", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "Q9GZY4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15417-1", "uniprot_id": "CNN3_HUMAN", "mass": 36414.0, "length": 329, "protein_name": "Calponin-3", "gene_name": "CNN3", "organism": "Human", "refseq_name": "calponin-3 isoform 2", "refseq_ac": "NP_001272984", "gene_names_uniprotkb": "CNN3", "gene_names_refseq": "CNN3", "protein_names_uniprotkb": "Calponin-3; Calponin, acidic isoform", "protein_names_refseq": "calponin 3, acidic; calponin-3 isoform 2; dJ639P13.2.2 (acidic calponin 3)", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); nicotine dependence (Disease Ontology:DOID:0050742); metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); sensorineural hearing loss (Disease Ontology:DOID:10003); portal hypertension (Disease Ontology:DOID:10762); hypertension (Disease Ontology:DOID:10763); drug psychosis (Disease Ontology:DOID:1742); opiate dependence (Disease Ontology:DOID:2559); glioblastoma (Disease Ontology:DOID:3068); brain infarction (Disease Ontology:DOID:3454); liver cirrhosis (Disease Ontology:DOID:5082); hepatocellular carcinoma (Disease Ontology:DOID:684); type 2 diabetes mellitus (Disease Ontology:DOID:9352); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:1266)", "pathway_count": 1, "publication_count": 97, "publication_id_list": "10.1101/2023.09.13.557529;11237011;15206927;17081983;17287340;18212344;19664995;20861310;21406692;22645359;22661428;23301498;23481700;24129315;24190977;24715725;25418920;25576301;25645385;25892735;26154972;26375851;26758079;26992070;27397612;27528401;27600516;27846572;27862975;27920218;28063628;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29741879;29786170;29789417;30192525;30429286;30518778;30779550;30833945;31092671;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32051425;32157095;32161166;32357974;32488085;32502341;32667904;32897882;32938616;33141586;33298915;33392160;33537174;33592498;33633747;33717175;33912179;33936100;33968037;33981976;34019948;34211107;34229054;34357683;34405274;35051231;35318648;35580925;35792226;36010968;36241641;36284347;36581221;37074911;37217939;37938771;38665916;8526917", "class_list": "", "function": "CNN3 acts as a potential oncogene in cervical cancer by affecting RPLP1 mRNA expression. Publication Status: Online-Only, [RefSeq, PubMed]; Calponin 3 Acts as a Potential Diagnostic and Prognostic Marker and Promotes Glioma Cell Proliferation, Migration, and Invasion., [RefSeq, PubMed]; Calponin 3 is associated with poor prognosis and regulates proliferation and metastasis in osteosarcoma., [RefSeq, PubMed]; Cnn3 depletion resulted in increased and uncoordinated contractility of stress fibers that often led to breakage of individual actomyosin bundles within the stress fiber network. Publication Status: Online-Only, [RefSeq, PubMed]; These results reveal the importance of the MEKK1-calponin-3 signaling pathway to cell contractility., [RefSeq, PubMed]; 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]; This gene encodes a protein with a markedly acidic C terminus; the basic N-terminus is highly homologous to the N-terminus of a related gene, CNN1. Members of the CNN gene family all contain similar tandemly repeated motifs. This encoded protein is associated with the cytoskeleton but is not involved in contraction. [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": 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": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 15, "disease_count": 14, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DFK6;B4DP09;F8WA86;Q6FHA7", "ec_number_list": "", "go_molecular_function": "GO:0005516 calmodulin binding;GO:0051015 actin filament binding;GO:0098641 cadherin binding involved in cell-cell adhesion;GO:0003779 actin binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005912 adherens junction;GO:0005925 focal adhesion;GO:0015629 actin cytoskeleton", "go_biological_process": "GO:0007015 actin filament organization;GO:0030855 epithelial cell differentiation;GO:0031032 actomyosin structure organization", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "Q15417-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96MI9-1", "uniprot_id": "CBPC4_HUMAN", "mass": 125330.0, "length": 1112, "protein_name": "Cytosolic carboxypeptidase 4", "gene_name": "AGBL1", "organism": "Human", "refseq_name": "cytosolic carboxypeptidase 4 isoform 2", "refseq_ac": "NP_689549", "gene_names_uniprotkb": "AGBL1; CCP4", "gene_names_refseq": "AGBL1; CCP4; FECD8", "protein_names_uniprotkb": "Cytosolic carboxypeptidase 4; 3.4.17.-; 3.4.17.24; ATP/GTP-binding protein-like 1; Protein deglutamylase CCP4", "protein_names_refseq": "ATP/GTP binding protein like 1; cytosolic carboxypeptidase 4 isoform 2; cytosolic carboxypeptidase 4; protein deglutamylase CCP4", "tax_id": 9606, "disease": "Fuchs' endothelial dystrophy (Disease Ontology:DOID:11555)", "pathway": " (hsa:123624); (R-HSA-8955332)", "pathway_count": 2, "publication_count": 30, "publication_id_list": "11237011;1520276;15890843;16901895;17244817;17244818;17360631;17499049;18331838;19524510;19531357;20519502;21074048;23358242;24094747;25103237;25468068;25957412;28218747;29146868;29557506;29789417;30315122;30620550;31603707;32502341;34171305;35051231;36215666;7452228", "class_list": "", "function": "Metallocarboxypeptidase that mediates deglutamylation of tubulin and non-tubulin target proteins. Catalyzes the removal of polyglutamate side chains present on the gamma-carboxyl group of glutamate residues within the C-terminal tail of tubulin protein. Specifically cleaves tubulin long-side-chains, while it is not able to remove the branching point glutamate. Also catalyzes the removal of polyglutamate residues from the carboxy-terminus of non-tubulin proteins such as MYLK., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Polyglutamylation is a reversible posttranslational modification catalyzed by polyglutamylases that results in the addition of glutamate side chains on the modified protein. This gene encodes a glutamate decarboxylase that catalyzes the deglutamylation of polyglutamylated proteins. Mutations in this gene result in dominant late-onset Fuchs corneal dystrophy. [provided by RefSeq, Nov 2013]., [RefSeq]; Rs4513061 in AGBL1 Gene is associated with decrease in the risk of lung cancer., [RefSeq, PubMed]; That AGBL1 interacts biochemically with the FCD-associated protein TCF4., [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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A1C7CYX3;A1A4X5;A6NJH6;C9JHL5", "ec_number_list": "3.6.5.-;3.4.17.-;3.4.17.24", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0004181 metallocarboxypeptidase activity;GO:0015631 tubulin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0015630 microtubule cytoskeleton", "go_biological_process": "GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q96MI9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VU57-1", "uniprot_id": "CBPC6_HUMAN", "mass": 58230.0, "length": 503, "protein_name": "Cytosolic carboxypeptidase 6", "gene_name": "AGBL4", "organism": "Human", "refseq_name": "cytosolic carboxypeptidase 6 isoform 2", "refseq_ac": "NP_001310502", "gene_names_uniprotkb": "AGBL4; CCP6", "gene_names_refseq": "AGBL4; CCP6", "protein_names_uniprotkb": "Cytosolic carboxypeptidase 6; 3.4.17.24; ATP/GTP-binding protein-like 4; Protein deglutamylase CCP6", "protein_names_refseq": "ATP/GTP binding protein like 4; cytosolic carboxypeptidase 6 isoform 2; cytosolic carboxypeptidase 6; protein deglutamylase CCP6", "tax_id": 9606, "disease": "", "pathway": " (hsa:84871); (R-HSA-8955332)", "pathway_count": 2, "publication_count": 29, "publication_id_list": "11237011;1520276;15890843;16901895;17244817;17244818;17360631;17499049;18331838;19240061;19524510;19531357;20519502;21074048;23085998;23358242;25103237;25416787;25468068;25472652;25957412;27853278;29146868;29593216;30720667;36674791;37226238;39007144;7452228", "class_list": "", "function": "ABGL4, LRP8 and PCSK9 polymorphisms and gene interactions increase cardiometabolic risk. Publication Status: Online-Only, [RefSeq, PubMed]; AGBL4 promoter hypermethylation is associated with Colorectal Cancer., [RefSeq, PubMed]; AGBL4 promotes malignant progression of glioblastoma via modulation of MMP-1 and inflammatory pathways. Publication Status: Online-Only, [RefSeq, PubMed]; CCP5 and CCP6 retain CP110 and negatively regulate ciliogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Metallocarboxypeptidase that mediates protein deglutamylation of tubulin and non-tubulin target proteins. Catalyzes the removal of polyglutamate side chains present on the gamma-carboxyl group of glutamate residues within the C-terminal tail of tubulin protein. Specifically cleaves tubulin long-side-chains, while it is not able to remove the branching point glutamate. Also catalyzes the removal of polyglutamate residues from the carboxy-terminus of non-tubulin proteins such as MYLK. Mediates the deglutamylation of nucleotidyltransferase CGAS, leading to CGAS antiviral defense response activation (By similarity). Involved in KLF4 deglutamylation which promotes KLF4 proteasome-mediated degradation, thereby negatively regulating cell pluripotency maintenance and embryogenesis (PubMed:29593216)., [UniProtKB, UniProtKB, PubMed]; Nna1 and CCP4 remove the C-terminal glutamate from substrates with two or more glutamates, whereas CCP6 requires four or more glutamates. CCP4 behaves as a promiscuous glutamase with little preference for chain length or neighboring amino acid composition, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Proximity Mapping of CCP6 Reveals Its Association with Centrosome Organization and Cilium Assembly. Publication Status: Online-Only, [RefSeq, PubMed]; 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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "B3KT26;B4DG37", "ec_number_list": "3.6.5.-;3.4.17.-;3.4.17.24", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0004181 metallocarboxypeptidase activity;GO:0015631 tubulin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0015630 microtubule cytoskeleton;GO:0005814 centriole", "go_biological_process": "GO:0006508 proteolysis;GO:0051607 defense response to virus", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q5VU57-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NKD9-1", "uniprot_id": "CC85C_HUMAN", "mass": 45210.0, "length": 419, "protein_name": "Coiled-coil domain-containing protein 85C", "gene_name": "CCDC85C", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 85C", "refseq_ac": "NP_001138467", "gene_names_uniprotkb": "CCDC85C", "gene_names_refseq": "CCDC85C", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 85C", "protein_names_refseq": "coiled-coil domain-containing protein 85C", "tax_id": 9606, "disease": "hydrocephalus (Disease Ontology:DOID:10908)", "pathway": " (hsa:317762)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11237011;21406692;23186163;23301498;24275569;25009281;25649651;32157095;32387766;32488085;32938616;32983136;33968037;34509645;35580925", "class_list": "", "function": "Genome-wide SNP analysis identified multiple suggestive novel loci and two of them were also significant in gene-based analysis (CCDC85C and NARS2) that survived after controlling for false-discovery rate at 0.05., [RefSeq, PubMed]; May play a role in cell-cell adhesion and epithelium development through its interaction with proteins of the beta-catenin family (Probable). May play an important role in cortical development, especially in the maintenance of radial glia (By similarity)., [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": 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": 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": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005912 adherens junction;GO:0005923 bicellular tight junction;GO:0030054 cell junction;GO:0043296 apical junction complex", "go_biological_process": "GO:0021987 cerebral cortex development", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "A6NKD9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NC51-1", "uniprot_id": "SERB1_HUMAN", "mass": 44965.0, "length": 408, "protein_name": "SERPINE1 mRNA-binding protein 1", "gene_name": "SERBP1", "organism": "Human", "refseq_name": "SERPINE1 mRNA-binding protein 1 isoform 1", "refseq_ac": "NP_001018077", "gene_names_uniprotkb": "SERBP1; CGI-55; PAIRBP1", "gene_names_refseq": "CGI-55; CHD3IP; HABP4L; Hero45; PAI-RBP1; PAIRBP1; SERBP1", "protein_names_uniprotkb": "SERPINE1 mRNA-binding protein 1; PAI-RBP1; PAI1 RNA-binding protein 1; Plasminogen activator inhibitor 1 RNA-binding protein", "protein_names_refseq": "PAI-1 mRNA binding protein; PAI1 RNA-binding protein 1; SERPINE1 mRNA-binding protein 1 isoform 1; chromodomain helicase DNA binding protein 3 interacting protein; plasminogen activator inhibitor 1 RNA-binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:26135)", "pathway_count": 1, "publication_count": 145, "publication_id_list": "11001948;11230166;11972486;12027469;12505151;14654843;15345747;16679534;16964243;17081983;17287340;17322306;17924679;18452278;18632687;18669648;18767875;19007248;19413330;19415658;19608861;19615748;19651622;19664994;19690332;20058876;20068230;20166139;20305658;21740066;21872626;21993680;23186163;23301498;23481700;23636399;23783831;24029068;24129315;24275569;24366607;24714562;24715725;25114211;25218447;25418920;25502872;25576301;25645385;25755297;25772364;25802875;26154972;26375851;26728094;26758079;26992070;27600516;27846572;27862975;27920218;28063628;28228285;28514659;28649982;28695742;28832583;28834231;28882895;29242379;29314611;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29786170;29789417;29930882;30192525;30379171;30429286;30524438;30779550;30833945;31154438;31217245;31222486;31373491;31530632;31844290;31848261;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32687489;32897882;32938616;32983136;33043033;33123756;33141586;33214551;33392160;33592498;33691108;33717175;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34357683;34561969;34725712;34784519;34836941;34932366;35008409;35051231;35132862;35138101;35156513;35251023;35561310;35580925;36010968;36215666;36241641;36284347;36691768;37217939;37240062;37938771;38665916;40596516", "class_list": "glycogene", "function": "A genetically-encoded crosslinker screen identifies SERBP1 as a PKCepsilon substrate influencing translation and cell division. Publication Status: Online-Only, [RefSeq, PubMed]; Circ_0046600 promotes hepatocellular carcinoma progression via up-regulating SERBP1 through sequestering miR-1258., [RefSeq, PubMed]; Interacts with the C-terminal region of the human chromatin-remodeling factor CHD-3, [RefSeq, PubMed]; Polymorphism of the PAI-1 gene promoter does not influence the development of AAA. However, the effect of PAI-1 genotype (5G5G) appears protective on survival following open aneurysm repair., [RefSeq, PubMed]; Ribosome-binding protein that promotes ribosome hibernation, a process during which ribosomes are stabilized in an inactive state and preserved from proteasomal degradation (PubMed:36691768). Acts via its association with EEF2/eEF2 factor, sequestering EEF2/eEF2 at the A-site of the ribosome and promoting ribosome stabilization and storage in an inactive state (By similarity). May also play a role in the regulation of mRNA stability: binds to the 3'-most 134 nt of the SERPINE1/PAI1 mRNA, a region which confers cyclic nucleotide regulation of message decay (PubMed:11001948). Seems to play a role in PML-nuclear bodies formation (PubMed:28695742)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; SERPINE1 mRNA Binding Protein 1 Is Associated with Ischemic Stroke Risk: A Comprehensive Molecular-Genetic and Bioinformatics Analysis of SERBP1 SNPs. Publication Status: Online-Only, [RefSeq, PubMed]; The 4G allele of the 4G/5G polymorphism in the PAI-1 gene may be a risk factor for IgE-mediated asthma and allergic diseases., [RefSeq, PubMed]; This gene encodes a protein, PAI-RBP1, that binds to an RNA sequence (cyclic nucleotide responsive sequence, CRS) in the plasminogen activator-inhibitor (PAI-1) mRNA that confers cAMP regulation of mRNA stability., [RefSeq, PubMed]; We observed that CGI-55 localizes to the nucleolus and co-localizes with p80-coilin positive nuclear-coiled bodies., [RefSeq, PubMed]; YY1-induced long non-coding RNA small nucleolar RNA host gene 8 promotes the tumorigenesis of melanoma via the microRNA-656-3p/SERPINE1 mRNA binding protein 1 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": 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": 25, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 409, "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": "Q5VU19;Q5VU20;Q5VU22;Q8WUH0;Q96SE2;Q9BTY3;Q9BUM4;Q9Y367;Q9Y4S3", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0045296 cadherin binding;GO:0030371 translation repressor activity;GO:0043022 ribosome binding;GO:0003730 mRNA 3'-UTR binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0030578 PML body organization;GO:0043488 regulation of mRNA stability;GO:0017148 negative regulation of translation;GO:0141014 ribosome hibernation", "synthesized_glycan_count": 0, "hit_score": 15.0, "record_id": "Q8NC51-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BT43-1", "uniprot_id": "RPC7L_HUMAN", "mass": 25334.0, "length": 218, "protein_name": "DNA-directed RNA polymerase III subunit RPC7-like", "gene_name": "POLR3GL", "organism": "Human", "refseq_name": "DNA-directed RNA polymerase III subunit RPC7-like isoform 2", "refseq_ac": "NP_001317614", "gene_names_uniprotkb": "POLR3GL", "gene_names_refseq": "POLR3GL; RPC32HOM; SOFM; flj32422", "protein_names_uniprotkb": "DNA-directed RNA polymerase III subunit RPC7-like; DNA-directed RNA polymerase III subunit G-like; RNA polymerase III 32 kDa beta subunit; RNA polymerase III subunit C7-like; RPC32-beta", "protein_names_refseq": "DNA-directed RNA polymerase III subunit G-like; DNA-directed RNA polymerase III subunit RPC7-like isoform 2; DNA-directed RNA polymerase III subunit RPC7-like; RNA polymerase III 32 kDa beta subunit; RNA polymerase III subunit C7-like; RNA polymerase III subunit G like; RPC32-beta; RPC32-like protein; alternative RNA polymerase III subunit 32; polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like; polymerase (RNA) III subunit G like", "tax_id": 9606, "disease": "short stature, oligodontia, dysmorphic facies, and motor delay (MONDO:MONDO:0030992)", "pathway": " (hsa:84265); (R-HSA-1834949); (R-HSA-73780); (R-HSA-73980); (R-HSA-749476); (R-HSA-76061); (R-HSA-76066); (R-HSA-76071)", "pathway_count": 8, "publication_count": 55, "publication_id_list": "10421633;11056176;11118217;11237011;11419933;11463379;12381659;19158675;19158676;19158679;1946469;19609254;19631370;19651622;20154270;21358628;21398614;23251783;23388631;2404611;24107381;24715725;25576301;26394183;26992070;28494942;29632711;30524438;30820548;30833945;31089205;31092671;31695177;31844290;32387766;32897882;33392160;33558766;34171305;34932366;35051231;35637192;7568218;7891697;7995525;8035818;8308883;8407894;8423814;9003788;9171375;9234698;9312031;9418884;9660958", "class_list": "", "function": "DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; Depletion of POLR3G selectively triggers proliferative arrest and differentiation of prostate cancer cells, responses not elicited when POLR3GL is depleted., [RefSeq, PubMed]; Structural insights into transcriptional regulation of human RNA polymerase III., [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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B1MVG5", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005666 RNA polymerase III complex", "go_biological_process": "GO:0006383 transcription by RNA polymerase III", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q9BT43-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P49760-1", "uniprot_id": "CLK2_HUMAN", "mass": 60090.0, "length": 499, "protein_name": "Dual specificity protein kinase CLK2", "gene_name": "CLK2", "organism": "Human", "refseq_name": "dual specificity protein kinase CLK2 isoform 1", "refseq_ac": "NP_001281267", "gene_names_uniprotkb": "CLK2", "gene_names_refseq": "CLK2", "protein_names_uniprotkb": "Dual specificity protein kinase CLK2; 2.7.12.1; CDC-like kinase 2", "protein_names_refseq": "CLK kinase; dual specificity protein kinase CLK2 isoform 1; dual specificity protein kinase CLK2", "tax_id": 9606, "disease": "inflammatory bowel disease (Disease Ontology:DOID:0050589); familial encephalopathy with neuroserpin inclusion bodies (Disease Ontology:DOID:0050831); coarctation of the aorta (Disease Ontology:DOID:0051054); stroke (Disease Ontology:DOID:0051061); atrial fibrillation (Disease Ontology:DOID:0060224); polycystic kidney disease (Disease Ontology:DOID:0080322); pre-eclampsia (Disease Ontology:DOID:10591); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); gastric ulcer (Disease Ontology:DOID:10808); meconium aspiration syndrome (Disease Ontology:DOID:11049); hydronephrosis (Disease Ontology:DOID:11111); IgA vasculitis (Disease Ontology:DOID:11123); pulmonary edema (Disease Ontology:DOID:11396); sciatic neuropathy (Disease Ontology:DOID:11446); prediabetes syndrome (Disease Ontology:DOID:11716); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); allergic disease (Disease Ontology:DOID:1205); otosclerosis (Disease Ontology:DOID:12185); primary biliary cholangitis (Disease Ontology:DOID:12236); alcoholic hepatitis (Disease Ontology:DOID:12351); dilated cardiomyopathy (Disease Ontology:DOID:12930); focal segmental glomerulosclerosis (Disease Ontology:DOID:1312); alpha 1-antitrypsin deficiency (Disease Ontology:DOID:13372); sick sinus syndrome (Disease Ontology:DOID:13884); Fabry disease (Disease Ontology:DOID:14499); diffuse scleroderma (Disease Ontology:DOID:1580); breast cancer (Disease Ontology:DOID:1612); impotence (Disease Ontology:DOID:1875); atherosclerosis (Disease Ontology:DOID:1936); hyperinsulinism (Disease Ontology:DOID:2018); transient cerebral ischemia (Disease Ontology:DOID:224); multiple sclerosis (Disease Ontology:DOID:2377); glomerulonephritis (Disease Ontology:DOID:2921); temporal lobe epilepsy (Disease Ontology:DOID:3328); carotid artery disease (Disease Ontology:DOID:3407); middle cerebral artery infarction (Disease Ontology:DOID:3525); pulmonary fibrosis (Disease Ontology:DOID:3770); systemic scleroderma (Disease Ontology:DOID:418); anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780); liver cirrhosis (Disease Ontology:DOID:5082); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); pulmonary hypertension (Disease Ontology:DOID:6432); cerebrovascular disease (Disease Ontology:DOID:6713); chronic myeloid leukemia (Disease Ontology:DOID:8552); intermediate coronary syndrome (Disease Ontology:DOID:8805); skin melanoma (Disease Ontology:DOID:8923); diabetic retinopathy (Disease Ontology:DOID:8947); type 2 diabetes mellitus (Disease Ontology:DOID:9352); mitral valve prolapse (Disease Ontology:DOID:988); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:1196)", "pathway_count": 1, "publication_count": 68, "publication_id_list": "10480872;11237011;12705895;14759258;18669648;18691976;19168442;19282290;19369195;20074525;20682768;23186163;23481700;25645385;25880248;26154972;26375851;26992070;27846572;27862975;27920218;28228285;28289210;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29769258;30524438;31844290;32157095;32357974;32387766;32488085;32897882;32938616;32983136;33141586;33298915;33392160;33691108;33721432;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;34561969;34932366;35051231;35293765;35561310;35580925;36010968;36215666;36241641;7990150;8910305;9331372;9637771;9852100", "class_list": "", "function": "CDC Like Kinase 2 plays an oncogenic role in colorectal cancer via modulating the Wnt/beta-catenin signaling., [RefSeq, PubMed]; CLK2 promotes occurrence and development of non-small cell lung cancer., [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. May be a constituent of a network of regulatory mechanisms that enable SR proteins to control RNA splicing and can cause redistribution of SR proteins from speckles to a diffuse nucleoplasmic distribution. Acts as a suppressor of hepatic gluconeogenesis and glucose output by repressing PPARGC1A transcriptional activity on gluconeogenic genes via its phosphorylation. Phosphorylates PPP2R5B thereby stimulating the assembly of PP2A phosphatase with the PPP2R5B-AKT1 complex leading to dephosphorylation of AKT1. Phosphorylates: PTPN1, SRSF1 and SRSF3. Regulates the alternative splicing of tissue factor (F3) pre-mRNA in endothelial cells. Phosphorylates PAGE4 at several serine and threonine residues and this phosphorylation attenuates the ability of PAGE4 to potentiate the transcriptional activator activity of JUN (PubMed:28289210)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a dual specificity protein kinase that phosphorylates serine/threonine and tyrosine-containing substrates. Activity of this protein regulates serine- and arginine-rich (SR) proteins of the spliceosomal complex, thereby influencing alternative transcript splicing. Chromosomal translocations have been characterized between this locus and the PAFAH1B3 (platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)) gene on chromosome 19, resulting in the production of a fusion protein. Note that this gene is distinct from the TELO2 gene (GeneID:9894), which shares the CLK2 alias, but encodes a protein that is involved in telomere length regulation. There is a pseudogene for this gene on chromosome 7. 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 52, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B1AVS9;B5MBX6;Q96CQ0", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.10.1;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.32;2.7.1.82;2.7.10.4;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0004713 protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0004712 protein serine/threonine/tyrosine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0016604 nuclear body", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0046777 protein autophosphorylation;GO:0010212 response to ionizing radiation;GO:0043484 regulation of RNA splicing;GO:0045721 negative regulation of gluconeogenesis", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "P49760-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y375-1", "uniprot_id": "CIA30_HUMAN", "mass": 37764.0, "length": 327, "protein_name": "Complex I intermediate-associated protein 30, mitochondrial", "gene_name": "NDUFAF1", "organism": "Human", "refseq_name": "complex I intermediate-associated protein 30, mitochondrial precursor", "refseq_ac": "NP_057097", "gene_names_uniprotkb": "NDUFAF1; CGI-65; CIA30", "gene_names_refseq": "CGI-65; CGI65; CIA30; MC1DN11; NDUFAF1", "protein_names_uniprotkb": "Complex I intermediate-associated protein 30, mitochondrial; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 1", "protein_names_refseq": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1; NADH dehydrogenase (ubiquinone) complex I, assembly factor 1; NADH-ubiquinone oxidoreductase 1 alpha subcomplex, assembly factor 1; complex I intermediate-associated protein 30, mitochondrial precursor; complex I intermediate-associated protein 30, mitochondrial", "tax_id": 9606, "disease": "nuclear type mitochondrial complex I deficiency 11 (Disease Ontology:DOID:0112089); mitochondrial metabolism disease (Disease Ontology:DOID:700)", "pathway": " (hsa:51103); (R-HSA-6799198)", "pathway_count": 2, "publication_count": 52, "publication_id_list": "11220739;11237011;11935339;16218961;17344420;17557076;17936786;19752196;20406883;20552642;20816094;20858599;21924235;21931170;23481700;23553477;24191001;24275569;25678554;25880248;26992070;27452731;27499296;27626371;28228285;28514659;28832583;28904123;29493099;29632046;30315122;31666358;31844290;31866046;32157095;32161166;32265295;32320651;32350084;32357974;32938616;33141586;33879611;33882309;33968037;34171305;34211107;34357683;35333655;35614220;38199007;9571201", "class_list": "", "function": "As part of the MCIA complex, involved in the assembly of the mitochondrial complex I., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; CIA30 is a crucial component in the early assembly of complex I and mutations in its gene can cause mitochondrial disease, [RefSeq, PubMed]; NDUFAF1 is an important protein for the assembly/stability of complex I (NADH:ubiquinone oxidoreductase)., [RefSeq, PubMed]; Study shows a mitochondrial function for Ecsit in the assembly of mitochondrial complex I, an N-terminal targeting signal directs Ecsit to mitochondria, where it interacts with assembly chaperone NDUFAF1., [RefSeq, PubMed]; This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. The encoded protein is required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [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": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q9BVZ5", "ec_number_list": "", "go_molecular_function": "GO:0051082 unfolded protein binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix;GO:0160295 mitochondrial complex I intermediate assembly complex", "go_biological_process": "GO:0032981 mitochondrial respiratory chain complex I assembly;GO:0006120 mitochondrial electron transport, NADH to ubiquinone;GO:0065003 protein-containing complex assembly", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q9Y375-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P51878-1", "uniprot_id": "CASP5_HUMAN", "mass": 49736.0, "length": 434, "protein_name": "Caspase-5", "gene_name": "CASP5", "organism": "Human", "refseq_name": "caspase-5 isoform b", "refseq_ac": "NP_001129581", "gene_names_uniprotkb": "CASP5; ICH3", "gene_names_refseq": "CASP5; ICE(rel)III; ICEREL-III; ICH-3", "protein_names_uniprotkb": "Caspase-5; 3.4.22.58; CASP-5; ICE(rel)-III; Protease ICH-3; Protease TY", "protein_names_refseq": "TY protease; caspase 5, apoptosis-related cysteine peptidase; caspase 5, apoptosis-related cysteine protease; caspase-5 isoform b; protease ICH-3; protease TY", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652)", "pathway": " (hsa:838); (R-HSA-5620971); (R-HSA-9948011); (R-HSA-9960525)", "pathway_count": 4, "publication_count": 52, "publication_id_list": "11237011;16893518;16897187;17431422;19859801;25119034;26374642;26375003;26508369;26992070;27281216;27383986;27418190;28045099;28218747;28314590;28392147;28459430;28832583;29177860;29242379;29437277;29493099;29539421;29557506;29891674;29898893;29990470;30143555;30692621;30976076;31113851;31154438;31848261;32109412;32188940;32367036;32502341;32820063;32938616;32983136;33968037;34895171;35030963;35051231;35318648;35580925;37603195;37993712;37993714;7797592;8617266", "class_list": "", "function": "CASP5 and CR1 as potential biomarkers for Kawasaki disease: an Integrated Bioinformatics-Experimental Study. Publication Status: Online-Only, [RefSeq, PubMed]; Caspase 5 depletion is linked to hyper-inflammatory response and progeroid syndrome., [RefSeq, PubMed]; Inhibition of circular RNA circ_0138959 alleviates pyroptosis of human gingival fibroblasts via the microRNA-527/caspase-5 axis., [RefSeq, PubMed]; Novel exon was present in six alternatively spliced caspase-5 mRNA variants expressed in human peripheral blood mononuclear cells (PBMC) and encoded the previously unknown amino-terminus of caspase-5., [RefSeq, PubMed]; Thiol protease that acts as a mediator of programmed cell death (PubMed:28314590, PubMed:29898893). Initiates pyroptosis, a programmed lytic cell death pathway through cleavage of Gasdermin-D (GSDMD): cleavage releases the N-terminal gasdermin moiety (Gasdermin-D, N-terminal) that binds to membranes and forms pores, triggering pyroptosis (PubMed:29898893). Also mediates cleavage and maturation of IL18 (PubMed:37993714). Cleavage of GSDMD and IL18 is not strictly dependent on the consensus cleavage site but depends on an exosite interface on CASP4 (PubMed:37993714). During non-canonical inflammasome activation, cuts CGAS and may play a role in the regulation of antiviral innate immune activation (PubMed:28314590)., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. Overexpression of the active form of this enzyme induces apoptosis in fibroblasts. Max, a central component of the Myc/Max/Mad transcription regulation network important for cell growth, differentiation, and apoptosis, is cleaved by this protein; this process requires Fas-mediated dephosphorylation of Max. The expression of this gene is regulated by interferon-gamma and lipopolysaccharide. Alternatively spliced transcript variants have been identified 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": 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": 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": "B4DKP5;Q0QVY7;Q0QVY8;Q0QVZ0;Q0QVZ1;Q0QVZ2;Q14DD6;Q1HBJ3;Q6DJV7", "ec_number_list": "3.4.22.56;3.4.22.58", "go_molecular_function": "GO:0004197 cysteine-type endopeptidase activity;GO:0008234 cysteine-type peptidase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0072558 NLRP1 inflammasome complex", "go_biological_process": "GO:0006508 proteolysis;GO:0006915 apoptotic process;GO:0021762 substantia nigra development;GO:0050729 positive regulation of inflammatory response;GO:0043525 positive regulation of neuron apoptotic process", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "P51878-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y2B0-1", "uniprot_id": "CNPY2_HUMAN", "mass": 20652.0, "length": 182, "protein_name": "Protein canopy homolog 2", "gene_name": "CNPY2", "organism": "Human", "refseq_name": "protein canopy homolog 2 isoform 2 precursor", "refseq_ac": "NP_001177920", "gene_names_uniprotkb": "CNPY2; MSAP; PRO4426; TMEM4; ZSIG9", "gene_names_refseq": "CNPY2; HP10390; MSAP; TMEM4; ZSIG9", "protein_names_uniprotkb": "Protein canopy homolog 2; MIR-interacting saposin-like protein; Putative secreted protein Zsig9; Transmembrane protein 4", "protein_names_refseq": "MIR-interacting saposin-like protein; protein canopy homolog 2 isoform 2 precursor; protein canopy homolog 2; putative secreted protein Zsig9; transmembrane protein 4", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283)", "pathway": " (hsa:10330)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "10072769;11237011;12826659;12975309;19240061;19664994;20068231;20166139;28510447;29393594;31047986;31894275;32350084;32357974;32488085;32502341;33482578;33592498;33721832;35251023", "class_list": "", "function": "Hypoxia-induced CNPY2 upregulation promotes glycolysis in cervical cancer through activation of AKT pathway., [RefSeq, PubMed]; Knockout of Cnpy2 resulted in up-regulation of p16(INK4a)., [RefSeq, PubMed]; MSAP is a novel MIR-interacting protein that enhances neurite outgrowth and increases myosin regulatory light chain in fetal and adult brain., [RefSeq, PubMed]; MiR30a3p suppresses the proliferation and migration of lung adenocarcinoma cells by downregulating CNPY2., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Positive regulator of neurite outgrowth by stabilizing myosin regulatory light chain (MRLC). It prevents MIR-mediated MRLC ubiquitination and its subsequent proteasomal degradation., [UniProtKB]; Sleeping Beauty insertional mutagenesis screen identifies the pro-metastatic roles of CNPY2 and ACTN2 in hepatocellular carcinoma 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": 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": 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": "B2R7B9;Q9UHE9", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0010629 negative regulation of gene expression;GO:0010988 regulation of low-density lipoprotein particle clearance", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q9Y2B0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O15484-1", "uniprot_id": "CAN5_HUMAN", "mass": 73169.0, "length": 640, "protein_name": "Calpain-5", "gene_name": "CAPN5", "organism": "Human", "refseq_name": "calpain-5 isoform 1", "refseq_ac": "NP_004046", "gene_names_uniprotkb": "CAPN5; NCL3", "gene_names_refseq": "ADNIV; CAPN5; HTRA3; VRNI; nCL-3", "protein_names_uniprotkb": "Calpain-5; 3.4.22.-; Calpain htra-3; New calpain 3; nCL-3", "protein_names_refseq": "calpain htra-3; calpain-5 isoform 1; new calpain 3; testis tissue sperm-binding protein Li 91mP", "tax_id": 9606, "disease": "neovascular inflammatory vitreoretinopathy (Disease Ontology:DOID:9719)", "pathway": " (hsa:726); (R-HSA-1474228)", "pathway_count": 2, "publication_count": 75, "publication_id_list": "10229672;10386589;10706100;10809722;10986281;11237011;11375993;11872628;12727852;12843408;14973287;15234972;15591058;15958533;16133547;1649600;16631740;16825321;1698775;1707285;17332331;17354228;17608959;18434311;18658137;19010778;19571574;19657146;19714641;20142769;21030783;21297635;21441952;21670566;21784848;21864727;22159414;23035980;23055945;23845380;25418920;25576301;25645385;27846572;29557506;29786170;30779550;31154438;31844290;31848261;32157095;32938616;33592498;33811937;33968037;33981976;34185709;34405274;35398613;35580925;36010968;36284347;36369866;37949151;7075587;7547873;8226919;8626565;9065415;9115292;9148753;9339374;9367857;9461298;9852107", "class_list": "", "function": "Calcium-regulated non-lysosomal thiol-protease., [UniProtKB, UniProtKB, UniProtKB]; Calpains are calcium-dependent cysteine proteases involved in signal transduction in a variety of cellular processes. A functional calpain protein consists of an invariant small subunit and 1 of a family of large subunits. CAPN5 is one of the large subunits. Unlike some of the calpains, CAPN5 and CAPN6 lack a calmodulin-like domain IV. Because of the significant similarity to Caenorhabditis elegans sex determination gene tra-3, CAPN5 is also called as HTRA3. [provided by RefSeq, Jul 2008]., [RefSeq]; Early-onset Neovascular Inflammatory Vitreoretinopathy Due to Two de Novo CAPN5 Mutations in Chinese Patients: A Case Series., [RefSeq, PubMed]; Mitochondrial calpain-5 truncates caspase-4 during endoplasmic reticulum stress., [RefSeq, PubMed]; Role of calpain-5 in cerebral ischemia and reperfusion injury., [RefSeq, PubMed]; The C2 domain of calpain 5 contributes to enzyme activation and membrane localization., [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": 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": "O00263", "ec_number_list": "3.4.22.53;3.4.22.-;3.4.22.52;3.4.22.54", "go_molecular_function": "GO:0004198 calcium-dependent cysteine-type endopeptidase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005925 focal adhesion;GO:0009986 cell surface;GO:0045202 synapse;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006508 proteolysis;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "O15484-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P02462-1", "uniprot_id": "CO4A1_HUMAN", "mass": 160611.0, "length": 1669, "protein_name": "Collagen alpha-1(IV) chain", "gene_name": "COL4A1", "organism": "Human", "refseq_name": "collagen alpha-1(IV) chain isoform 2 precursor", "refseq_ac": "NP_001290039", "gene_names_uniprotkb": "COL4A1", "gene_names_refseq": "BSVD1; BSVD; COL4A1s; COL4A1; PADMAL; RATOR", "protein_names_uniprotkb": "Collagen alpha-1(IV) chain", "protein_names_refseq": "COL4A1 NC1 domain; arresten; collagen IV, alpha-1 polypeptide; collagen alpha-1(IV) chain isoform 2 precursor; collagen alpha-1(IV) chain; collagen of basement membrane, alpha-1 chain", "tax_id": 9606, "disease": "Walker-Warburg syndrome (Disease Ontology:DOID:0050560); alcohol dependence (Disease Ontology:DOID:0050741); nicotine dependence (Disease Ontology:DOID:0050742); obstructive sleep apnea (Disease Ontology:DOID:0050848); stroke (Disease Ontology:DOID:0051061); withdrawal disorder (Disease Ontology:DOID:0060001); autism spectrum disorder (Disease Ontology:DOID:0060041); porencephaly (Disease Ontology:DOID:0060263); congenital central hypoventilation syndrome (Disease Ontology:DOID:0060731); Parkinsonism (Disease Ontology:DOID:0080855); traumatic brain injury (Disease Ontology:DOID:0081292); brain small vessel disease 1 (Disease Ontology:DOID:0090125); retinal arterial tortuosity (Disease Ontology:DOID:0111547); brain small vessel disease (Disease Ontology:DOID:0112313); keratoconus (Disease Ontology:DOID:10126); Alzheimer's disease (Disease Ontology:DOID:10652); primary open angle glaucoma (Disease Ontology:DOID:1070); amnestic disorder (Disease Ontology:DOID:10914); obsessive-compulsive disorder (Disease Ontology:DOID:10933); attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); sciatic neuropathy (Disease Ontology:DOID:11446); trigeminal neuralgia (Disease Ontology:DOID:12098); acoustic neuroma (Disease Ontology:DOID:12689); Huntington's disease (Disease Ontology:DOID:12858); Sjogren's syndrome (Disease Ontology:DOID:12894); uterine fibroid (Disease Ontology:DOID:13223); color blindness (Disease Ontology:DOID:13399); pulmonary sarcoidosis (Disease Ontology:DOID:13406); low tension glaucoma (Disease Ontology:DOID:13544); premature ejaculation (Disease Ontology:DOID:13709); Parkinson's disease (Disease Ontology:DOID:14330); hypothyroidism (Disease Ontology:DOID:1459); major depressive disorder (Disease Ontology:DOID:1470); urticaria (Disease Ontology:DOID:1555); cognitive disorder (Disease Ontology:DOID:1561); alcohol use disorder (Disease Ontology:DOID:1574); depressive disorder (Disease Ontology:DOID:1596); cystitis (Disease Ontology:DOID:1679); glaucoma (Disease Ontology:DOID:1686); status epilepticus (Disease Ontology:DOID:1824); anxiety disorder (Disease Ontology:DOID:2030); post-traumatic stress disorder (Disease Ontology:DOID:2055); transient cerebral ischemia (Disease Ontology:DOID:224); multiple sclerosis (Disease Ontology:DOID:2377); opiate dependence (Disease Ontology:DOID:2559); morphine dependence (Disease Ontology:DOID:2560); asthma (Disease Ontology:DOID:2841); interstitial lung disease (Disease Ontology:DOID:3082); atopic dermatitis (Disease Ontology:DOID:3310); mood disorder (Disease Ontology:DOID:3324); middle cerebral artery infarction (Disease Ontology:DOID:3525); pulmonary fibrosis (Disease Ontology:DOID:3770); systemic scleroderma (Disease Ontology:DOID:418); myopathy (Disease Ontology:DOID:423); rhinitis (Disease Ontology:DOID:4483); borna disease (Disease Ontology:DOID:5154); intestinal disease (Disease Ontology:DOID:5295); kidney disease (Disease Ontology:DOID:557); myocardial infarction (Disease Ontology:DOID:5844); acute stress disorder (Disease Ontology:DOID:6088); pulmonary hypertension (Disease Ontology:DOID:6432); amphetamine abuse (Disease Ontology:DOID:670); retinal degeneration (Disease Ontology:DOID:8466); collagen disease (Disease Ontology:DOID:854); vascular dementia (Disease Ontology:DOID:8725); intermediate coronary syndrome (Disease Ontology:DOID:8805); diabetic retinopathy (Disease Ontology:DOID:8947); type 2 diabetes mellitus (Disease Ontology:DOID:9352); hypertensive encephalopathy (Disease Ontology:DOID:9427); bacterial meningitis (Disease Ontology:DOID:9470); cannabis abuse (Disease Ontology:DOID:9505); neovascular inflammatory vitreoretinopathy (Disease Ontology:DOID:9719); diabetic neuropathy (Disease Ontology:DOID:9743); irritable bowel syndrome (Disease Ontology:DOID:9778); alopecia (Disease Ontology:DOID:987); obesity (Disease Ontology:DOID:9970); cocaine dependence (Disease Ontology:DOID:9975); heroin dependence (Disease Ontology:DOID:9976); schizencephaly (MONDO:MONDO:0010011); autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome (MONDO:MONDO:0012726); microangiopathy and leukoencephalopathy, pontine, autosomal dominant (MONDO:MONDO:0032814); hemorrhage, intracerebral, susceptibility to (MONDO:MONDO:0100533)", "pathway": " (hsa:1282); (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-3000480); (R-HSA-419037); (R-HSA-8948216); (R-HSA-9638630)", "pathway_count": 16, "publication_count": 350, "publication_id_list": "10022829;10049780;10209034;10224290;10339611;10366422;10438935;10479448;10508235;10543983;10551873;10593924;10596943;10605720;10640428;10651831;10673326;10673366;10686426;10713152;10722588;10809722;10811134;10934207;10966814;10982388;11013208;11054877;11084047;11119712;11158588;11237011;11259413;11313359;11518510;11564734;11572855;11577169;11713259;11739641;11820786;11847221;11927537;11964076;11980922;11986329;12011424;12211432;12225811;12237301;12369853;1237296;12473679;12475640;12482924;12488451;12496264;12538485;12579531;12585966;12646579;12682293;12761161;12763022;12765789;12807887;12847263;1311092;1323838;1339697;1348714;1376317;1400327;14500733;14602708;14609958;14715956;1484505;15005656;15044469;15075323;15207811;15240572;15257288;15265795;15296743;15330449;15345499;15383545;1544908;15615512;1567360;15713743;15767546;1577494;15837520;1588291;15899827;15905400;15950618;16002701;16051604;16107487;16151532;16237101;16239428;16267048;16272566;16293224;16331269;1639841;16413178;16436588;16474853;16481288;16493581;16525990;16563355;16581764;16591531;16598045;16731529;16754661;16806867;16825197;16882874;16926412;16933105;16984918;1704217;17088321;171650;17179669;17332894;17339034;17367763;17379824;17588949;17604334;17696175;17709607;17943726;17968485;18059411;18160688;18487197;1852209;18559524;18599485;18622425;18710925;18775695;19073604;19075007;19194877;19227971;19477666;19502598;19564526;19693541;19729652;19911804;20033473;2005102;2010551;20360967;20385946;2045422;20470363;2059554;20690820;20705068;20810988;20813817;20818663;20849212;20888598;20956340;21251937;21376233;21527998;21593211;21642437;2169335;21782039;21789315;21878990;21935455;21967573;22134916;22241472;22382088;22493504;2251254;22522439;2253219;22539938;22570530;22574627;22842973;22884367;22933705;2307289;2318890;23197261;23225343;23374253;23394911;23583652;2364322;2412224;2420006;2430969;24628545;25228067;25328409;2537292;2543975;2548603;2551898;25597754;25645385;2581969;2582422;26758079;2701944;27600516;27666438;2809592;2834383;28369186;28435517;2844531;2845110;29093181;29137923;29263244;29408302;29557506;29789417;29964125;3038863;30389923;30429286;30459171;3082888;31085175;3173483;3182844;31844290;32157095;3223920;32488085;32897882;3311751;3467373;35051231;35580925;3595596;3691802;38253038;3872795;3905801;3938630;3992061;3997977;4043082;41816;5246001;5723342;6088540;6129847;6193777;6255257;6258630;6270089;6307276;641035;6434307;6439184;6643500;6694361;6809411;710450;7499434;7505120;7525578;7527058;7541634;7542249;7542669;7559467;7607209;7685013;7693733;7852349;7890717;8002934;8118028;8127896;8207089;8262246;8344274;8429030;8440685;8463259;8560266;8576151;8636146;8751442;8784195;8798654;8809141;8838667;8900172;8910476;8920930;8943283;8999957;9008168;9054364;9092507;9225214;9245798;9251239;9252349;9294172;9334164;9341124;9346959;9398268;9443892;9465098;9468508;9470928;9511720;9545296;9548586;9560306;9565552;9582318;9645947;9651395;9659899;9659900;9685393;9739761;9856810;9858236;9949188", "class_list": "", "function": "Arresten, comprising the C-terminal NC1 domain, inhibits angiogenesis and tumor formation. The C-terminal half is found to possess the anti-angiogenic activity. Specifically inhibits endothelial cell proliferation, migration and tube formation., [UniProtKB, PubMed, PubMed]; This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]., [RefSeq]; 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, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 14, "predicted_n_glycosites": 1, "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": 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": 51, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 82, "glyco_site_count": 17, "binding_glycan_count": 0, "secondary_ac_list": "A7E2W4;B1AM70;F5H5K0;Q1P9S9;Q5VWF6;Q86X41;Q8NF88;Q9NYC5", "ec_number_list": "", "go_molecular_function": "GO:0005201 extracellular matrix structural constituent;GO:0030020 extracellular matrix structural constituent conferring tensile strength;GO:0048407 platelet-derived growth factor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005788 endoplasmic reticulum lumen;GO:0031012 extracellular matrix;GO:0005604 basement membrane;GO:0005587 collagen type IV trimer", "go_biological_process": "GO:0030198 extracellular matrix organization;GO:0030855 epithelial cell differentiation;GO:0007420 brain development;GO:0030199 collagen fibril organization;GO:0048514 blood vessel morphogenesis", "synthesized_glycan_count": 0, "hit_score": 35.6, "record_id": "P02462-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P07360-1", "uniprot_id": "CO8G_HUMAN", "mass": 22277.0, "length": 202, "protein_name": "Complement component C8 gamma chain", "gene_name": "C8G", "organism": "Human", "refseq_name": "complement component C8 gamma chain precursor", "refseq_ac": "NP_000597", "gene_names_uniprotkb": "C8G", "gene_names_refseq": "C8C; C8G", "protein_names_uniprotkb": "Complement component C8 gamma chain", "protein_names_refseq": "complement component 8, gamma polypeptide; complement component C8 gamma chain precursor; complement component C8 gamma chain", "tax_id": 9606, "disease": "", "pathway": " (hsa:733); (R-HSA-166665); (R-HSA-977606)", "pathway_count": 3, "publication_count": 72, "publication_id_list": "10531307;1067618;11058761;11237011;11694537;11939578;12033936;12055245;1386357;16079145;16192651;16999828;1707134;17182573;17452033;17505110;17692377;21454577;21788512;22802338;23487775;2420889;2446620;2447883;2465906;2466593;2481448;26841837;27052168;29242379;293688;293746;2956252;2971659;301546;3052276;30552328;31061395;34667172;35051231;36509166;3676249;36797260;3848661;39814882;39914456;4098172;6177822;6214588;6219696;6222381;6230668;6238120;6334079;6454142;6607952;670886;6833260;6906228;702059;7391570;7542572;760802;761607;7690834;7691959;8172891;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 (PubMed:26841837, PubMed:27052168, PubMed:30552328). The MAC is initiated by proteolytic cleavage of C5 into complement C5b in response to the classical, alternative, lectin and GZMK complement pathways (PubMed:30552328, PubMed:39914456, PubMed:39814882). 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 (PubMed:30552328). C8G, together with C8A and C8B, inserts into the target membrane, but does not form pores by itself (PubMed:30552328). 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 (PubMed:30552328, PubMed:6833260)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Elevated complement component 8 gamma levels in astrocyte-derived exosomes are associated with cognitive impairment in obstructive sleep apnea patients without dementia., [RefSeq, PubMed]; The protein encoded by this gene belongs to the lipocalin family. It is one of the three subunits that constitutes complement component 8 (C8), which is composed of a disulfide-linked C8 alpha-gamma heterodimer and a non-covalently associated C8 beta chain. C8 participates in the formation of the membrane attack complex (MAC) on bacterial cell membranes. While subunits alpha and beta play a role in complement-mediated bacterial killing, the gamma subunit is not required for the bactericidal activity. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "Q14CT8;Q14CU0;Q5SQ07", "ec_number_list": "", "go_molecular_function": "GO:0019841 retinol binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0072562 blood microparticle;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": 7.3, "record_id": "P07360-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UF02-1", "uniprot_id": "CCG5_HUMAN", "mass": 30903.0, "length": 275, "protein_name": "Voltage-dependent calcium channel gamma-5 subunit", "gene_name": "CACNG5", "organism": "Human", "refseq_name": "voltage-dependent calcium channel gamma-5 subunit isoform 1", "refseq_ac": "NP_665810", "gene_names_uniprotkb": "CACNG5", "gene_names_refseq": "CACNG5", "protein_names_uniprotkb": "Voltage-dependent calcium channel gamma-5 subunit; Neuronal voltage-gated calcium channel gamma-5 subunit; TARP gamma-5; Transmembrane AMPAR regulatory protein gamma-5", "protein_names_refseq": "TARP gamma-5; calcium channel, voltage-dependent, gamma subunit 5; neuronal voltage-gated calcium channel gamma-5 subunit; transmembrane AMPAR regulatory protein gamma-5; voltage-dependent calcium channel gamma-5 subunit isoform 1; voltage-dependent calcium channel gamma-5 subunit", "tax_id": 9606, "disease": "", "pathway": " (hsa:27091)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "10613843;11237011;11738816;11927536;21057379;27102562", "class_list": "", "function": "Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Regulates the gating properties of AMPA-selective glutamate receptors (AMPARs). Modulates their gating properties by accelerating their rates of activation, deactivation and desensitization. Displays subunit-specific AMPA receptor regulation. Shows specificity for GRIA1, GRIA4 and the long isoform of GRIA2. Thought to stabilize the calcium channel in an inactivated (closed) state (By similarity)., [UniProtKB]; The protein encoded by this gene is a type II transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type I TARP and a calcium channel gamma subunit. This gene is a susceptibility locus for schizophrenia and bipolar disorder. [provided by RefSeq, Dec 2010]., [RefSeq]; These results indicate that CACNG4, CACNG5, CACNG6 and CACNG8 may contribute to the risk of SCZ. The statistical epistasis identified between CACNG5 and CACNG6 suggests that there may be an underlying biological interaction between the two genes. 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": 10, "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": "A8K2A6;Q547R3;Q8WXS7;Q9UHM3", "ec_number_list": "", "go_molecular_function": "GO:0015075 monoatomic ion transmembrane transporter activity;GO:0005245 voltage-gated calcium channel activity;GO:0016247 channel regulator activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0014069 postsynaptic density;GO:0032281 AMPA glutamate receptor complex;GO:0098839 postsynaptic density membrane;GO:0016020 membrane", "go_biological_process": "GO:0051968 positive regulation of synaptic transmission, glutamatergic;GO:0019226 transmission of nerve impulse;GO:2000311 regulation of AMPA receptor activity;GO:0098970 postsynaptic neurotransmitter receptor diffusion trapping;GO:0006816 calcium ion transport", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q9UF02-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NZZ3-1", "uniprot_id": "CHMP5_HUMAN", "mass": 24571.0, "length": 219, "protein_name": "Charged multivesicular body protein 5", "gene_name": "CHMP5", "organism": "Human", "refseq_name": "charged multivesicular body protein 5 isoform 2", "refseq_ac": "NP_001182465", "gene_names_uniprotkb": "CHMP5; C9orf83; CGI-34; HSPC177; PNAS-114; PNAS-2; SNF7DC2", "gene_names_refseq": "C9orf83; CGI-34; CHMP5; HSPC177; PNAS-2; SNF7DC2; Spike; Vps60", "protein_names_uniprotkb": "Charged multivesicular body protein 5; Chromatin-modifying protein 5; SNF7 domain-containing protein 2; Vacuolar protein sorting-associated protein 60; Vps60; hVps60", "protein_names_refseq": "SNF7 domain containing 2; SNF7 domain-containing protein 2; apoptosis-related protein PNAS-2; charged multivesicular body protein 5 isoform 2; chromatin-modifying protein 5; hVps60; small protein with inherent killing effect; vacuolar protein sorting-associated protein 60", "tax_id": 9606, "disease": "", "pathway": " (hsa:51510); (R-HSA-162588); (R-HSA-917729)", "pathway_count": 3, "publication_count": 100, "publication_id_list": "10.1101/2023.09.13.557529;11563910;14519844;14624836;15075231;15218037;15473846;15644320;16371348;16973552;17261583;17853893;18507432;18669648;19527882;20068231;21543490;21757351;22484091;22762019;23266279;23301498;23305486;23481700;23719902;24714562;24715725;25502872;25576301;25645385;25810538;26154972;26375851;26992070;27600516;27812135;27846572;27862975;27920218;28228285;28467828;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632711;29786170;29789417;30061757;30315122;30429286;30573663;30833945;31154438;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32350084;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33717175;33912179;33936100;33968037;34019948;34087483;34171305;34211107;34357683;34433824;34586919;35051231;35132862;35251023;35318648;35580925;36010968;36215666;36241641;36284347;37212088;37768378;37938771;38664616;40307207;40596516", "class_list": "", "function": "CHMP5 attenuates osteoarthritis via inhibiting chondrocyte apoptosis and extracellular matrix degradation: involvement of NF-kappaB pathway. Publication Status: Online-Only, [RefSeq, PubMed]; CHMP5 belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]., [RefSeq]; Circ_CHMP5 aggravates oxidized low-density lipoprotein-induced damage to human umbilical vein endothelial cells through miR-516b-5p/TGFbetaR2 axis., [RefSeq, PubMed]; Interactions of ubiquitin and CHMP5 with the V domain of HD-PTP reveals role for regulation of Vps4 ATPase., [RefSeq, PubMed]; Probable peripherally associated component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses) (PubMed:14519844). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. Involved in HIV-1 p6- and p9-dependent virus release (PubMed:14519844)., [UniProtKB, PubMed]; Vps60 initiates alternative ESCRT-III filaments., [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": 2, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 8, "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": "B2RD95;B4DIR6;Q5VXW2;Q96AV2;Q9HB68;Q9NYS4;Q9Y323", "ec_number_list": "", "go_molecular_function": "GO:0045296 cadherin binding", "go_cellular_component": "GO:0000815 ESCRT III complex;GO:0005828 kinetochore microtubule;GO:0000421 autophagosome membrane;GO:0005635 nuclear envelope;GO:0005643 nuclear pore", "go_biological_process": "GO:0001778 plasma membrane repair;GO:0010824 regulation of centrosome duplication;GO:0031468 nuclear membrane reassembly;GO:0036258 multivesicular body assembly;GO:0039702 viral budding via host ESCRT complex", "synthesized_glycan_count": 0, "hit_score": 10.6, "record_id": "Q9NZZ3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HD42-1", "uniprot_id": "CHM1A_HUMAN", "mass": 21703.0, "length": 196, "protein_name": "Charged multivesicular body protein 1a", "gene_name": "CHMP1A", "organism": "Human", "refseq_name": "charged multivesicular body protein 1a isoform 2", "refseq_ac": "NP_002759", "gene_names_uniprotkb": "CHMP1A; CHMP1; KIAA0047; PCOLN3; PRSM1", "gene_names_refseq": "CHMP1A; CHMP1; PCH8; PCOLN3; PRSM1; VPS46-1; VPS46A", "protein_names_uniprotkb": "Charged multivesicular body protein 1a; CHMP1a; Chromatin-modifying protein 1a; Vacuolar protein sorting-associated protein 46-1; Vps46-1; hVps46-1", "protein_names_refseq": "VPS46 homolog A; charged multivesicular body protein 1/chromatin modifying protein 1; charged multivesicular body protein 1a isoform 2; chromatin modifying protein 1A; procollagen (type III) N-endopeptidase; protease, metallo, 1, 33kD; vacuolar protein sorting-associated protein 46-1", "tax_id": 9606, "disease": "pontocerebellar hypoplasia type 8 (Disease Ontology:DOID:0060277)", "pathway": " (hsa:5119); (R-HSA-9610379)", "pathway_count": 2, "publication_count": 72, "publication_id_list": "11237011;11559747;11559748;14505570;14519844;17928862;18767875;19129479;19129480;19640981;23023333;23045692;23186163;24275569;24714562;25576301;26728094;26992070;27600516;27846572;27862975;28063628;28228285;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29632046;29632711;29786170;29789417;30192525;30315122;30429286;30833945;31154438;31844290;31848261;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33392160;33592498;33717175;33936100;33968037;33981976;34019948;34087483;34426578;34509645;35051231;35580925;36010968;36241641;36284347;37938771;38665916;8863740", "class_list": "", "function": "A single genetic locus controls both expression of DPEP1/CHMP1A and kidney disease development via ferroptosis. Publication Status: Online-Only, [RefSeq, PubMed]; Probable peripherally associated component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. Involved in cytokinesis. Involved in recruiting VPS4A and/or VPS4B to the midbody of dividing cells. May also be involved in chromosome condensation. Targets the Polycomb group (PcG) protein BMI1/PCGF4 to regions of condensed chromatin. May play a role in stable cell cycle progression and in PcG gene silencing., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the CHMP/Chmp family of proteins which are involved in multivesicular body sorting of proteins to the interiors of lysosomes. The initial prediction of the protein sequence encoded by this gene suggested that the encoded protein was a metallopeptidase. The nomenclature has been updated recently to reflect the correct biological function of this encoded protein. Several transcripts encoding different isoforms have been found 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": 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": 2, "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": "A2RU09;Q14468;Q15779;Q96G31", "ec_number_list": "", "go_molecular_function": "GO:0008237 metallopeptidase activity;GO:0008270 zinc ion binding;GO:0019904 protein domain specific binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0000815 ESCRT III complex;GO:0005828 kinetochore microtubule;GO:0000421 autophagosome membrane;GO:0000794 condensed nuclear chromosome;GO:0005643 nuclear pore", "go_biological_process": "GO:0001778 plasma membrane repair;GO:0010824 regulation of centrosome duplication;GO:0031468 nuclear membrane reassembly;GO:0036258 multivesicular body assembly;GO:0039702 viral budding via host ESCRT complex", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q9HD42-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P32239-1", "uniprot_id": "GASR_HUMAN", "mass": 48419.0, "length": 447, "protein_name": "Gastrin/cholecystokinin type B receptor", "gene_name": "CCKBR", "organism": "Human", "refseq_name": "gastrin/cholecystokinin type B receptor isoform 2", "refseq_ac": "NP_001304958", "gene_names_uniprotkb": "CCKBR; CCKRB", "gene_names_refseq": "CCK-2R; CCK-B; CCK2R; CCKBR; GASR", "protein_names_uniprotkb": "Gastrin/cholecystokinin type B receptor; CCK-B receptor; CCK-BR; CCK2-R; Cholecystokinin-2 receptor", "protein_names_refseq": "CCK-B receptor; CCK2 receptor; cholecystokinin type 2 receptor; cholecystokinin-2 receptor; gastrin receptor; gastrin/cholecystokinin type B receptor isoform 2", "tax_id": 9606, "disease": "colitis (Disease Ontology:DOID:0060180); toxic shock syndrome (Disease Ontology:DOID:14115); pancreatic cancer (Disease Ontology:DOID:1793); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); panic disorder (Disease Ontology:DOID:594)", "pathway": " (hsa:887); (R-HSA-375276); (R-HSA-416476); (R-HSA-881907)", "pathway_count": 4, "publication_count": 142, "publication_id_list": "10079109;10100623;10191087;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10567430;10604470;10727532;10854085;10861009;10899166;10913157;11015615;11237011;11322507;11385580;11457843;11495676;11562423;11683476;11742120;11753430;11773063;11926817;12120503;12427552;12429993;12540846;12719537;1280419;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;15139756;15196926;15539556;1567413;15947423;15951850;16182515;16268778;16339447;1655761;16754659;16923326;16963136;1710450;1710578;1719979;1722333;18127230;18434541;1847994;18515384;18577758;18936096;1905813;19064631;23446738;23690594;24906252;2649896;27496565;2841328;3086311;3202875;32387766;3366244;33968037;34556863;34924075;35251023;3525564;35430166;35672283;3856870;39083706;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7681836;7797512;7848914;7887934;7905839;7937899;8035319;8062389;8063797;8185170;8185599;8201839;8221657;8222757;8248172;8294032;8349705;8373420;8381365;8383682;8395824;8415658;8440682;8463333;8503909;8615752;8664309;8666380;8702752;873923;8823230;9171878;9305846;9521323;9530155;9593744;9607765;9685625;9722565;9770463;9792798;9832121;9851594;9872672", "class_list": "", "function": "Cholecystokinin B receptor gene polymorphism (rs2941026) is associated with anxious personality and suicidal thoughts in a longitudinal study., [RefSeq, PubMed]; Cholesterol-dependent dynamic changes in the conformation of the type 1 cholecystokinin receptor affect ligand binding and G protein coupling. Publication Status: Online-Only, [RefSeq, PubMed]; Isoform 2 is constitutively activated and may regulate cancer cell proliferation via a gastrin-independent mechanism., [UniProtKB]; Receptor for the peptide hormones gastrin and cholecystokinin (CCK). Expressed throughout the central nervous system, where it modulates processes such as anxiety, analgesia, arousal and neuroleptic activity. Couples to both GNAI1 and GNAQ signaling pathways, but not to GNAS (PubMed:34556863). Upon gastrin activation, reduces glucose absorption in intestinal epithelial cells by downregulating SGLT1 and GLUT2 expression through suppression of the PI3K/Akt/eIF4B pathway (By similarity). In the kidney, decreases SGLT2 expression under high-glucose conditions via ERK/NF-kappa-B signaling (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a G-protein coupled receptor for gastrin and cholecystokinin (CCK), regulatory peptides of the brain and gastrointestinal tract. This protein is a type B gastrin receptor, which has a high affinity for both sulfated and nonsulfated CCK analogs and is found principally in the central nervous system and the gastrointestinal tract. Alternative splicing results in multiple transcript variants. A misspliced transcript variant including an intron has been observed in cells from colorectal and pancreatic tumors. [provided by RefSeq, Dec 2015]., [RefSeq]; Unique membranous gastrin receptor expression of parietal cells and its distribution pattern in the gastric oxyntic mucosa and fundic gland polyps., [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": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 33, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8K7P9;O75824;Q16144;Q92492;Q96LC6;Q9NYK7;Q9UBV1", "ec_number_list": "", "go_molecular_function": "GO:0017046 peptide hormone binding;GO:0046935 1-phosphatidylinositol-3-kinase regulator activity;GO:0008188 neuropeptide receptor activity;GO:0015054 gastrin receptor activity;GO:0004951 cholecystokinin receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "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:0007218 neuropeptide signaling pathway;GO:0008284 positive regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 14.3, "record_id": "P32239-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TD17-1", "uniprot_id": "ZN398_HUMAN", "mass": 71311.0, "length": 642, "protein_name": "Zinc finger protein 398", "gene_name": "ZNF398", "organism": "Human", "refseq_name": "zinc finger protein 398 isoform b", "refseq_ac": "NP_065832", "gene_names_uniprotkb": "ZNF398; KIAA1339; ZER6", "gene_names_refseq": "P51; P71; ZER6; ZNF398; p52-ZER6; p71-ZER6", "protein_names_uniprotkb": "Zinc finger protein 398; Zinc finger DNA-binding protein p52/p71", "protein_names_refseq": "zinc finger DNA binding protein ZER6; zinc finger DNA binding protein p52/p71; zinc finger protein 398 isoform b; zinc finger-estrogen receptor interaction, clone 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:57541); (R-HSA-212436)", "pathway_count": 2, "publication_count": 48, "publication_id_list": "10235266;10330177;11395415;11779858;14519192;15175151;15896744;16606702;16719718;2163759;23481700;26992070;27846572;27920218;28063628;28218747;28832583;28834231;28904123;29242379;29393594;29437277;29508533;29557506;29632046;30315122;30429286;30779550;31154438;31217245;31530632;31844290;32157095;32357974;32387766;32398665;32488085;32938616;32983136;33717175;33912179;35051231;35580925;36241641;8183939;8769649;9637681;9653119", "class_list": "", "function": "Functions as a transcriptional activator., [UniProtKB]; The transcriptional regulator ZNF398 mediates pluripotency and epithelial character downstream of TGF-beta in human PSCs. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the Kruppel family of C2H2-type zinc-finger transcription factor proteins. The encoded protein acts as a transcriptional activator. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described, but their full length sequence has not been determined. [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": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K384;B4E377;Q8TD18;Q9P2K7;Q9UDV8", "ec_number_list": "", "go_molecular_function": "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_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;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q8TD17-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P40121-1", "uniprot_id": "CAPG_HUMAN", "mass": 38499.0, "length": 348, "protein_name": "Macrophage-capping protein", "gene_name": "CAPG", "organism": "Human", "refseq_name": "macrophage-capping protein isoform 1", "refseq_ac": "NP_001243068", "gene_names_uniprotkb": "CAPG; AFCP; MCP", "gene_names_refseq": "AFCP; CAPG; HEL-S-66; MCP", "protein_names_uniprotkb": "Macrophage-capping protein; Actin regulatory protein CAP-G", "protein_names_refseq": "actin-regulatory protein CAP-G; capping protein (actin filament), gelsolin-like; epididymis secretory protein Li 66; gelsolin-like capping protein; macrophage-capping protein isoform 1; macrophage-capping protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:822)", "pathway_count": 1, "publication_count": 59, "publication_id_list": "11237011;12637565;1322908;17081065;17145369;18266911;18507432;19651622;19690332;20068231;23481700;24275569;25892735;26375851;26992070;28467828;28904123;29317506;29437277;29557506;30315122;30397120;30410026;30626607;30833945;31844290;31848261;32157095;32350084;32387766;32488085;32502341;32938616;32938750;32983136;33214551;33236143;33298915;33392160;33592498;33711419;33717175;33912179;33968037;34019948;34171305;34357683;34509645;35051231;35251023;35580925;36215666;36244872;36284347;37468079;37938771;38665916;7814409;7851883", "class_list": "", "function": "CAPG facilitates diffuse large B-cell lymphoma cell progression through PI3K/AKT signaling pathway., [RefSeq, PubMed]; CAPG interference induces apoptosis and ferroptosis in colorectal cancer cells through the P53 pathway., [RefSeq, PubMed]; Calcium-sensitive protein which reversibly blocks the barbed ends of actin filaments but does not sever preformed actin filaments. May play an important role in macrophage function. May play a role in regulating cytoplasmic and/or nuclear structures through potential interactions with actin. May bind DNA., [UniProtKB]; CapG lacks a nuclear export sequence present in structurally related proteins, [RefSeq, PubMed]; Oncogenic potential of macrophagecapping protein in clear cell renal cell carcinoma., [RefSeq, PubMed]; The migration behavior of human glioblastoma cells is influenced by the redox-sensitive human macrophage capping protein CAPG., [RefSeq, PubMed]; This gene encodes a member of the gelsolin/villin family of actin-regulatory proteins. The encoded protein reversibly blocks the barbed ends of F-actin filaments in a Ca2+ and phosphoinositide-regulated manner, but does not sever preformed actin filaments. By capping the barbed ends of actin filaments, the encoded protein contributes to the control of actin-based motility in non-muscle cells. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 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": 2, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "B8ZZS7;D6W5K8;Q53SA7", "ec_number_list": "", "go_molecular_function": "GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0019904 protein domain specific binding;GO:0051015 actin filament binding;GO:0045296 cadherin binding;GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0015629 actin cytoskeleton", "go_biological_process": "GO:0007417 central nervous system development;GO:0051016 barbed-end actin filament capping;GO:0008154 actin polymerization or depolymerization;GO:0051014 actin filament severing;GO:0065003 protein-containing complex assembly", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "P40121-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P27658-1", "uniprot_id": "CO8A1_HUMAN", "mass": 73364.0, "length": 744, "protein_name": "Collagen alpha-1(VIII) chain", "gene_name": "COL8A1", "organism": "Human", "refseq_name": "collagen alpha-1(VIII) chain precursor", "refseq_ac": "NP_001841", "gene_names_uniprotkb": "COL8A1; C3orf7", "gene_names_refseq": "C3orf7; COL8A1", "protein_names_uniprotkb": "Collagen alpha-1(VIII) chain; Endothelial collagen", "protein_names_refseq": "cell proliferation-inducing protein 41; collagen VIII, alpha-1 polypeptide; collagen alpha-1(VIII) chain precursor; collagen alpha-1(VIII) chain; collagen, type VIII, alpha 1; endothelial collagen; smooth muscle cell-expressed and macrophage conditioned medium-induced protein smag-64", "tax_id": 9606, "disease": "dilated cardiomyopathy (Disease Ontology:DOID:12930)", "pathway": " (hsa:1295); (R-HSA-1442490); (R-HSA-1650814); (R-HSA-2022090); (R-HSA-216083); (R-HSA-8948216)", "pathway_count": 6, "publication_count": 164, "publication_id_list": "10049780;10209034;10366422;10438935;10479448;10543983;10551873;10593924;10596943;10605720;10640428;10673366;10686422;10713152;10809722;10811134;10934207;10966814;10982388;11013208;11119712;11158588;11237011;11518510;11572855;11577169;11708810;11713259;11927537;11980922;12473679;12475640;12482924;12496264;12579531;12585966;12646579;12682293;12807887;1323838;1400327;14500733;14602708;14990571;15005656;15044469;1515454;15240572;15257288;15265795;15330449;15345499;15383545;15713743;1577494;15837520;1588291;15899827;15950618;16002701;16051604;16239428;16591531;16731529;16754661;16825197;16933105;1704217;17088321;171650;17339034;17888087;17968485;18487197;18622425;18710925;18775695;19075007;19502598;19693541;20033473;2005102;2010551;2029894;20470363;20705068;21593211;2169335;21878990;21935455;21967573;22241472;22382088;2253219;22539938;22884367;2307289;23374253;2376131;24715725;2537292;2543975;2548603;2551898;25645385;2834383;2845110;29242379;29557506;3038863;30429286;30459171;3173483;32157095;32161166;3223920;33592498;33968037;35051231;36241641;36577251;38225203;38429534;38575892;38719174;3905801;3938630;6258630;6270089;6307276;6694361;6809411;710450;7505120;7525578;7541634;7542249;7559467;7685013;7734329;7890717;8118028;8207089;8344274;8463259;8560266;8576151;8798654;8838667;8910476;8920930;8999957;9008168;9054364;9092507;9251239;9443892;9545296;9560306;9565552;9582318;9651395;9856810;9858236", "class_list": "", "function": "COL8A1 Regulates Esophageal Squamous Carcinoma Proliferation and Invasion Through PI3K/AKT Pathway., [RefSeq, PubMed]; COL8A1 enhances the invasion/metastasis in MDA-MB-231 cells via the induction of IL1B and MMP1 expression., [RefSeq, PubMed]; COL8A1 is a potential prognostic biomarker associated with migration, proliferation, and tumor microenvironment in glioma., [RefSeq, PubMed]; Macromolecular component of the subendothelium. Major component of the Descemet's membrane (basement membrane) of corneal endothelial cells. Also a component of the endothelia of blood vessels. Necessary for migration and proliferation of vascular smooth muscle cells and thus, has a potential role in the maintenance of vessel wall integrity and structure, in particular in atherogenesis., [UniProtKB, PubMed]; Molecular prognostic of nine parthanatos death-related genes in glioma, particularly in COL8A1 identification., [RefSeq, PubMed]; This gene encodes one of the two alpha chains of type VIII collagen. The gene product is a short chain collagen and a major component of the basement membrane of the corneal endothelium. The type VIII collagen fibril can be either a homo- or a heterotrimer. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Dec 2011]., [RefSeq]; Two patients with Knobloch syndrome due to mutation in COL8A1 gene: case report and review of the literature. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Vastatin, the C-terminal fragment comprising the NC1 domain, inhibits aortic endothelial cell proliferation and causes cell apoptosis., [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": 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": 9, "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": "D3DN42;Q53XI6;Q96D07", "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:0031012 extracellular matrix;GO:0071953 elastic fiber;GO:0005591 collagen type VIII trimer", "go_biological_process": "GO:0001525 angiogenesis;GO:0007155 cell adhesion;GO:0030198 extracellular matrix organization;GO:0035987 endodermal cell differentiation;GO:0070831 basement membrane assembly", "synthesized_glycan_count": 0, "hit_score": 16.7, "record_id": "P27658-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y3X0-1", "uniprot_id": "CCDC9_HUMAN", "mass": 59703.0, "length": 531, "protein_name": "Coiled-coil domain-containing protein 9", "gene_name": "CCDC9", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 9", "refseq_ac": "NP_056418", "gene_names_uniprotkb": "CCDC9", "gene_names_refseq": "CCDC9", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 9", "protein_names_refseq": "coiled-coil domain-containing protein 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:26093)", "pathway_count": 1, "publication_count": 47, "publication_id_list": "11230166;11237011;15302935;17081983;18220336;18669648;18767875;19413330;19651622;19664995;19690332;20068231;21406692;23186163;23301498;24129315;24275569;24715725;25576301;26154972;27846572;27920218;28832583;29242379;29393594;29493099;29632711;30315122;30833945;31502483;31530632;31844290;31848261;32157095;32502341;32938616;32983136;33298915;33592498;33936100;33968037;33973408;33981976;34932366;35051231;35580925;37217939", "class_list": "", "function": "Homozygous variant (NC_000019.9: g.47763960C>T, NM_015603.3, NP_056418.1: p. Ser109Leu) associated with severe asthenozoospermia, [RefSeq, PubMed]; Probable component of the exon junction complex (EJC), a multiprotein complex that associates immediately upstream of the exon-exon junction on mRNAs and serves as a positional landmark for the intron exon structure of genes and directs post-transcriptional processes in the cytoplasm such as mRNA export, nonsense-mediated mRNA decay (NMD) or translation., [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": 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": 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": "", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0035145 exon-exon junction complex", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q9Y3X0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UNI1-1", "uniprot_id": "CELA1_HUMAN", "mass": 27798.0, "length": 258, "protein_name": "Chymotrypsin-like elastase family member 1", "gene_name": "CELA1", "organism": "Human", "refseq_name": "chymotrypsin-like elastase family member 1", "refseq_ac": "NP_001962", "gene_names_uniprotkb": "CELA1; ELA1", "gene_names_refseq": "CELA1; ELA1", "protein_names_uniprotkb": "Chymotrypsin-like elastase family member 1; 3.4.21.36; Elastase-1; Pancreatic elastase 1", "protein_names_refseq": "chymotrypsin like elastase family member 1; chymotrypsin-like elastase family member 1; elastase 1, pancreatic; elastase-1; pancreatic elastase 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:1990)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "10620133;16959974;25319362;26601880;28604957;29521945;30054822", "class_list": "", "function": "A heterozygous frameshift variant c.419delC in exons of the CELA1 gene identified in all punctate palmoplantar keratoderma patients., [RefSeq, PubMed]; Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Unlike other elastases, pancreatic elastase 1 is not expressed in the pancreas. To date, elastase 1 expression has only been detected in skin keratinocytes. Clinical literature that describes human elastase 1 activity in the pancreas or fecal material is actually referring to chymotrypsin-like elastase family, member 3B. [provided by RefSeq, May 2009]., [RefSeq]; High Serum Elastase 1 Level is associated with Postoperative Recurrence in Patients with Well-Differentiated Pancreatic Neuroendocrine Neoplasms., [RefSeq, PubMed]; Inverse association of HbA1c with faecal elastase 1 in people without diabetes suggests that pancreatic exocrine dysfunction might be an early disturbance that develops in parallel with hyperglycemia., [RefSeq, PubMed]; Results indicate that the extract of the mycelium of Tricholoma matsutake decreased elastase activity in a dose-dependent manner and reduced the levels of matrix metalloproteinase 1 (MMP-1)., [RefSeq, PubMed]; Results show that fecal elastase 1 (FE1) fails to detect steatorrhea in patients with locally advanced pancreatic cancer (LAPC) and is an inappropriate marker of exocrine pancreatic insufficiency in daily clinical practice., [RefSeq, PubMed]; Serine proteases that hydrolyze many proteins in addition to elastin., [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": 0, "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": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q5MLF0;Q6DJT0;Q6ISM6", "ec_number_list": "", "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0006508 proteolysis;GO:0006954 inflammatory response", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q9UNI1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y4X3-1", "uniprot_id": "CCL27_HUMAN", "mass": 12618.0, "length": 112, "protein_name": "C-C motif chemokine 27", "gene_name": "CCL27", "organism": "Human", "refseq_name": "C-C motif chemokine 27 precursor", "refseq_ac": "NP_006655", "gene_names_uniprotkb": "CCL27; ILC; SCYA27", "gene_names_refseq": "ALP; CCL27; CTACK; CTAK; ESKINE; ILC; PESKY; SCYA27", "protein_names_uniprotkb": "C-C motif chemokine 27; CC chemokine ILC; CTACK; Cutaneous T-cell-attracting chemokine; ESkine; IL-11 R-alpha-locus chemokine; Skinkine; Small-inducible cytokine A27", "protein_names_refseq": "C-C motif chemokine 27 precursor; C-C motif chemokine 27; CC chemokine ILC; IL-11 R-alpha-locus chemokine; IL-11 Ralpha-locus chemokine; chemokine (C-C motif) ligand 27; cutaneous T-cell attracting chemokine; skinkine; small inducible cytokine subfamily A (Cys-Cys), member 27; small-inducible cytokine A27", "tax_id": 9606, "disease": "COVID-19 (Disease Ontology:DOID:0080600); asthma (Disease Ontology:DOID:2841); atopic dermatitis (Disease Ontology:DOID:3310)", "pathway": " (hsa:10850); (R-HSA-380108); (R-HSA-418594)", "pathway_count": 3, "publication_count": 63, "publication_id_list": "10229797;10556532;10588729;10640743;10706668;10725696;10725697;10781587;11007482;11060282;12120503;12149255;12554737;12884299;15067078;15951850;16107333;16634148;16923326;1744577;1840701;18434541;18577758;1891716;20002784;20200157;2078213;2217207;2423119;2534964;27044744;2748346;2834384;29295705;2970963;3098319;3260265;35051231;36169116;37450610;38885591;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": "Association of CTACK, IL-2, and IL-13 with increased risk of lung cancer: A Mendelian randomization study., [RefSeq, PubMed]; Chemotactic factor that attracts skin-associated memory T-lymphocytes. May play a role in mediating homing of lymphocytes to cutaneous sites. Binds to CCR10., [UniProtKB]; Connexin26 Modulates Radiation-Induced Skin Damage by Regulating Chemokine CCL27 through MAPK Signaling., [RefSeq, PubMed]; Plasma CCL27 levels were significantly lower in the VCA-IgA-negative normal subjects than in either the VCA-IgA-positive healthy donorsor the NPC patients. Publication Status: Online-Only, [RefSeq, PubMed]; The CCL27-CCR10 axis contributes to promoting proliferation, migration, and invasion of lung squamous cell carcinoma., [RefSeq, PubMed]; This gene is one of several CC cytokine genes clustered on the p-arm of chromosome 9. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The protein encoded by this gene is chemotactic for skin-associated memory T lymphocytes. This cytokine may also play a role in mediating homing of lymphocytes to cutaneous sites. It specifically binds to chemokine receptor 10 (CCR10). Studies of a similar murine protein indicate that these protein-receptor interactions have a pivotal role in T cell-mediated skin inflammation. [provided by RefSeq, Sep 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": 1, "reported_glycation": 0, "reported_snv": 4, "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": "", "ec_number_list": "", "go_molecular_function": "GO:0008009 chemokine activity;GO:0031728 CCR3 chemokine receptor binding;GO:0045236 CXCR chemokine receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0006935 chemotaxis;GO:0006954 inflammatory response;GO:0006955 immune response;GO:0007267 cell-cell signaling;GO:0061844 antimicrobial humoral immune response mediated by antimicrobial peptide", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q9Y4X3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y6F7-1", "uniprot_id": "CDY2_HUMAN", "mass": 60524.0, "length": 541, "protein_name": "Testis-specific chromodomain protein Y 2", "gene_name": "CDY2A; CDY2B", "organism": "Human", "refseq_name": "testis-specific chromodomain protein Y 2", "refseq_ac": "NP_001001722", "gene_names_uniprotkb": "CDY2A; CDY2B; CDY2", "gene_names_refseq": "CDY2B; CDY", "protein_names_uniprotkb": "Testis-specific chromodomain protein Y 2; 2.3.1.48", "protein_names_refseq": "Y chromosome chromodomain protein 2B; chromodomain protein, Y chromosome, 2 related; chromodomain protein, Y-linked, 2B; testis-specific chromodomain protein Y 2; testis-specific chromodomain protein Y protein 2 related", "tax_id": 9606, "disease": "", "pathway": " (hsa:203611); (hsa:9426)", "pathway_count": 2, "publication_count": 4, "publication_id_list": "10192397;19507244;23481700;28904123", "class_list": "", "function": "May have histone acetyltransferase activity., [UniProtKB]; This intronless gene encodes a protein containing a chromodomain and a histone acetyltransferase catalytic domain. Chromodomain proteins are components of heterochromatin-like complexes and can act as gene repressors. This protein is localized to the nucleus of late spermatids where histone hyperacetylation takes place. Histone hyperacetylation is thought to facilitate the transition in which protamines replace histones as the major DNA-packaging protein. Two nearly identical copies of this gene are found in a palindromic region on chromosome Y; this record represents the centromeric copy. Chromosome Y also contains a pair of closely related genes in another more telomeric palindrome as well as several 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "A8K868", "ec_number_list": "2.3.1.48;2.3.1.-;2.7.11.1;2.3.1.57;2.3.1.259;2.3.1.80", "go_molecular_function": "GO:0061733 protein-lysine-acetyltransferase activity;GO:0003714 transcription corepressor activity;GO:0061628 histone H3K27me3 reader activity;GO:0062072 histone H3K9me2/3 reader activity", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0007283 spermatogenesis;GO:0120094 negative regulation of peptidyl-lysine crotonylation", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q9Y6F7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y6F8-1", "uniprot_id": "CDY1_HUMAN", "mass": 60473.0, "length": 540, "protein_name": "Testis-specific chromodomain protein Y 1", "gene_name": "CDY1B; CDY1", "organism": "Human", "refseq_name": "testis-specific chromodomain protein Y 1 isoform a", "refseq_ac": "NP_001003894", "gene_names_uniprotkb": "CDY1B; CDY1; CDY1A", "gene_names_refseq": "CDY1B; CDY", "protein_names_uniprotkb": "Testis-specific chromodomain protein Y 1; 2.3.1.48", "protein_names_refseq": "chromodomain protein, Y chromosome, 1, centromeric; chromodomain protein, Y-linked, 1B; testis-specific chromodomain protein Y 1 isoform a; testis-specific chromodomain protein Y 1; testis-specific chromodomain protein on Y, centromeric", "tax_id": 9606, "disease": "", "pathway": " (hsa:253175); (hsa:9085)", "pathway_count": 2, "publication_count": 12, "publication_id_list": "10192397;12072557;18450745;19507244;20068231;26992070;27457284;28218747;29437277;33981976;35051231;9381176", "class_list": "", "function": "Has histone acetyltransferase activity, with a preference for histone H4., [UniProtKB, 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 encodes a protein containing a chromodomain and a histone acetyltransferase catalytic domain. Chromodomain proteins are components of heterochromatin-like complexes and can act as gene repressors. This protein is localized to the nucleus of late spermatids where histone hyperacetylation takes place. Histone hyperacetylation is thought to facilitate the transition in which protamines replace histones as the major DNA-packaging protein. The human chromosome Y has two identical copies of this gene within a palindromic region; this record represents the more centromeric copy. Chromosome Y also contains a pair of closely related genes in another more telomeric palindrome as well as several related pseudogenes. Two protein isoforms are encoded by transcript variants of this gene. Additional transcript variants have been described, but their full-length nature 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A2RUK1;O14600", "ec_number_list": "2.3.1.48;2.3.1.-;2.7.11.1;2.3.1.57;2.3.1.259;2.3.1.80", "go_molecular_function": "GO:0061733 protein-lysine-acetyltransferase activity;GO:0003714 transcription corepressor activity;GO:0061628 histone H3K27me3 reader activity;GO:0062072 histone H3K9me2/3 reader activity", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0007283 spermatogenesis;GO:0120094 negative regulation of peptidyl-lysine crotonylation", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9Y6F8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96LZ3-1", "uniprot_id": "CANB2_HUMAN", "mass": 19533.0, "length": 170, "protein_name": "Calcineurin subunit B type 2", "gene_name": "PPP3R2", "organism": "Human", "refseq_name": "calcineurin subunit B type 2", "refseq_ac": "NP_671709", "gene_names_uniprotkb": "PPP3R2; CBLP; PPP3RL", "gene_names_refseq": "PPP3R2; PPP3RL", "protein_names_uniprotkb": "Calcineurin subunit B type 2; CBLP; CNBII; Calcineurin B-like protein; Calcineurin BII; PPP3R1-like; Protein phosphatase 2B regulatory subunit 2; Protein phosphatase 3 regulatory subunit B beta isoform", "protein_names_refseq": "CBLP; CNBII; calcineurin B, type II (19kDa); calcineurin B-like protein; calcineurin BII; calcineurin subunit B type 2; protein phosphatase 2B regulatory subunit 2", "tax_id": 9606, "disease": "traumatic brain injury (Disease Ontology:DOID:0081292)", "pathway": " (hsa:5535)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;15865209;20628086;25576301;27600516;27920218;28832583;28904123;29786170", "class_list": "", "function": "Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; PPP3RL gene localizes to human chromosome 9q22 and transcripts of PPP3RL gene are specifically expressed in the testis., [RefSeq, PubMed]; Regulatory subunit of calcineurin, a calcium-dependent, calmodulin stimulated protein phosphatase. Confers calcium sensitivity., [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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5VTR4;Q7Z4V8;Q8WYJ4", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0019902 phosphatase binding;GO:0008597 calcium-dependent protein serine/threonine phosphatase regulator activity", "go_cellular_component": "GO:0097226 sperm mitochondrial sheath;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0005955 calcineurin complex", "go_biological_process": "GO:0097720 calcineurin-mediated signaling;GO:0070886 positive regulation of calcineurin-NFAT signaling cascade;GO:1905665 positive regulation of calcium ion import across plasma membrane;GO:1905949 negative regulation of calcium ion import across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q96LZ3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P31415-1", "uniprot_id": "CASQ1_HUMAN", "mass": 45160.0, "length": 396, "protein_name": "Calsequestrin-1", "gene_name": "CASQ1", "organism": "Human", "refseq_name": "calsequestrin-1 precursor", "refseq_ac": "NP_001222", "gene_names_uniprotkb": "CASQ1; CASQ", "gene_names_refseq": "CASQ1; CASQ; CSQ1; PDIB1; VMCQA", "protein_names_uniprotkb": "Calsequestrin-1; Calmitine; Calsequestrin, skeletal muscle isoform", "protein_names_refseq": "calmitine; calsequestrin 1 (fast-twitch, skeletal muscle); calsequestrin-1 precursor", "tax_id": 9606, "disease": "tubular aggregate myopathy 1 (Disease Ontology:DOID:0080089); type 2 diabetes mellitus (Disease Ontology:DOID:9352); myopathy due to calsequestrin and SERCA1 protein overload (MONDO:MONDO:0014546)", "pathway": " (hsa:844); (R-HSA-2672351); (R-HSA-5578775)", "pathway_count": 3, "publication_count": 144, "publication_id_list": "10220561;10564087;10642508;10720933;10767424;10830164;10831588;10913253;11062458;11182090;11237011;11588175;11687798;11734858;11842292;11904445;11904675;11956057;12119109;12393854;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;18000046;18063579;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;22337878;22427649;22707725;22773952;22946059;22972900;2298749;23112050;2321095;23362265;23549614;23610579;23616951;2430951;2477373;25116801;2536303;2559024;25994790;26136523;26359375;26562072;27185316;27196359;28071645;28154142;2838329;28645727;28790369;28895244;2953725;29557506;29789417;30258016;31844290;32387766;33912179;34078123;35051231;6328127;7588753;7665160;7702581;7795595;7929371;7945294;8041726;8112288;8383669;8533761;8544406;8626462;8798450;8809036;8918259;9037075;9346285;9395096;9571199;9662395;9700209;9719863;9744806", "class_list": "", "function": "Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle (PubMed:28895244). Calcium ions are bound by clusters of acidic residues at the protein surface, often at the interface between subunits. Can bind around 80 Ca(2+) ions (PubMed:28895244). Regulates the release of lumenal Ca(2+) via the calcium release channel RYR1; this plays an important role in triggering muscle contraction. Negatively regulates store-operated Ca(2+) entry (SOCE) activity (PubMed:27185316)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; The p.D244G variant in CASQ1 is associated with a skeletal muscle disease and alters sarcoplasmic calcium release Publication Status: Online-Only, [RefSeq, PubMed]; These results widen the spectrum of skeletal muscle diseases associated with CASQ1 and indicate that these mutations affect properties critical for correct Ca(2+) handling in skeletal muscle fibers., [RefSeq, PubMed]; This gene encodes the skeletal muscle specific member of the calsequestrin protein family. Calsequestrin functions as a luminal sarcoplasmic reticulum calcium sensor in both cardiac and skeletal muscle cells. This protein, also known as calmitine, functions as a calcium regulator in the mitochondria of skeletal muscle. This protein is absent in patients with Duchenne and Becker types of muscular dystrophy. [provided by RefSeq, Jun 2013]., [RefSeq]; This study showed that twenty-two CASQ1-mutated patients (12 families) were identified, 21 sharing the previously described founder mutation (p.Asp244Gly) and 1 with the p.Gly103Asp mutation., [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": 4, "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": "B1AKZ2;B2R863;Q8TBW7", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005783 endoplasmic reticulum;GO:0005790 smooth endoplasmic reticulum;GO:0030018 Z disc", "go_biological_process": "GO:1901341 positive regulation of store-operated calcium channel activity;GO:0051281 positive regulation of release of sequestered calcium ion into cytosol;GO:0014894 response to denervation involved in regulation of muscle adaptation;GO:0045214 sarcomere organization;GO:0051258 protein polymerization", "synthesized_glycan_count": 0, "hit_score": 14.5, "record_id": "P31415-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O14958-1", "uniprot_id": "CASQ2_HUMAN", "mass": 46436.0, "length": 399, "protein_name": "Calsequestrin-2", "gene_name": "CASQ2", "organism": "Human", "refseq_name": "calsequestrin-2 precursor", "refseq_ac": "NP_001223", "gene_names_uniprotkb": "CASQ2", "gene_names_refseq": "CASQ2; PDIB2", "protein_names_uniprotkb": "Calsequestrin-2; Calsequestrin, cardiac muscle isoform", "protein_names_refseq": "calsequestrin 2 (cardiac muscle); calsequestrin 2, fast-twitch, cardiac muscle; calsequestrin-2 precursor", "tax_id": 9606, "disease": "catecholaminergic polymorphic ventricular tachycardia 2 (Disease Ontology:DOID:0060676); supravalvular aortic stenosis (Disease Ontology:DOID:1929); congestive heart failure (Disease Ontology:DOID:6000)", "pathway": " (hsa:845); (R-HSA-2672351); (R-HSA-5578775)", "pathway_count": 3, "publication_count": 144, "publication_id_list": "10220561;10564087;10642508;10720933;10767424;10830164;10831588;10913253;11062458;11182090;11237011;11588175;11687798;11704930;11734858;11842292;11904445;11904675;11956057;12119109;12393854;12832055;12907679;12953268;1379744;14571276;14584882;14634667;15010458;15044642;15147738;15174025;15260953;15318163;15485681;15504734;15505377;15598648;15754088;15916532;15919655;16219661;16754674;16813530;16849430;16850186;16908766;1693919;17224452;17357072;17381423;17448995;17486119;17699613;17881003;18000046;18063579;18310267;18399795;18400985;18449189;18508966;18662336;18669648;18724360;18995841;19153159;19278978;19307298;19380724;19387438;19620632;19751721;19808995;1985907;19953639;20388639;20388710;20466723;20525693;20538786;21040849;21108950;21416293;21527911;21984732;22002868;22210847;2226863;22427649;22707725;22773952;22946059;22972900;2298749;23112050;2321095;23362265;23549614;23610579;23616951;2430951;2477373;2536303;2559024;25994790;26359375;26562072;27157848;28071645;28154142;2838329;28645727;28790369;2953725;29557506;30429286;33392160;35051231;35580925;39062601;6328127;7588753;7665160;7702581;7795595;7929371;8041726;8112288;8383669;8533761;8544406;8626462;8798450;8809036;8918259;9037075;9346285;9395096;9571199;9662395;9700209;9719863;9744806", "class_list": "", "function": "Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle. Calcium ions are bound by clusters of acidic residues at the protein surface, especially at the interface between subunits. Can bind around 60 Ca(2+) ions. Regulates the release of lumenal Ca(2+) via the calcium release channel RYR2; this plays an important role in triggering muscle contraction. Plays a role in excitation-contraction coupling in the heart and in regulating the rate of heart beats., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Investigation of a Large Kindred Reveals Cardiac Calsequestrin (CASQ2) as a Cause of Brugada Syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene specifies the cardiac muscle family member of the calsequestrin family. Calsequestrin is localized to the sarcoplasmic reticulum in cardiac and slow skeletal muscle cells. The protein is a calcium binding protein that stores calcium for muscle function. Mutations in this gene cause stress-induced polymorphic ventricular tachycardia, also referred to as catecholaminergic polymorphic ventricular tachycardia 2 (CPVT2), a disease characterized by bidirectional ventricular tachycardia that may lead to cardiac arrest. [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": 6, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R7M6;B4DIB0;Q5T1D2;Q8TBW8", "ec_number_list": "", "go_molecular_function": "GO:0048306 calcium-dependent protein binding;GO:0005509 calcium ion binding;GO:0140314 calcium ion sequestering activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0030018 Z disc;GO:0014701 junctional sarcoplasmic reticulum membrane;GO:0016529 sarcoplasmic reticulum;GO:0034704 calcium channel complex", "go_biological_process": "GO:0006874 intracellular calcium ion homeostasis;GO:0060306 regulation of membrane repolarization;GO:0060048 cardiac muscle contraction;GO:0043267 negative regulation of potassium ion transport;GO:0006941 striated muscle contraction", "synthesized_glycan_count": 0, "hit_score": 14.5, "record_id": "O14958-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60911-1", "uniprot_id": "CATL2_HUMAN", "mass": 37329.0, "length": 334, "protein_name": "Cathepsin L2", "gene_name": "CTSV", "organism": "Human", "refseq_name": "cathepsin L2 preproprotein", "refseq_ac": "NP_001188504", "gene_names_uniprotkb": "CTSV; CATL2; CTSL2; CTSU; PRO305", "gene_names_refseq": "CATL2; CTSL2; CTSU; CTSV", "protein_names_uniprotkb": "Cathepsin L2; 3.4.22.43; Cathepsin U; Cathepsin V", "protein_names_refseq": "cathepsin L2 preproprotein; cathepsin L2, preproprotein; cathepsin U", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); otitis media (Disease Ontology:DOID:10754); nephrotic syndrome (Disease Ontology:DOID:1184); dilated cardiomyopathy (Disease Ontology:DOID:12930); alcohol use disorder (Disease Ontology:DOID:1574); brain ischemia (Disease Ontology:DOID:2316); lung adenocarcinoma (Disease Ontology:DOID:3910); pancreatitis (Disease Ontology:DOID:4989); hepatocellular carcinoma (Disease Ontology:DOID:684); muscular atrophy (Disease Ontology:DOID:767); hyperthyroidism (Disease Ontology:DOID:7998)", "pathway": " (hsa:1515); (R-HSA-1236977); (R-HSA-1474228); (R-HSA-1592389); (R-HSA-1679131); (R-HSA-2022090); (R-HSA-2132295); (R-HSA-8939242)", "pathway_count": 8, "publication_count": 227, "publication_id_list": "10.1101/2023.09.13.557529;10029531;10036229;10064083;10072072;10229672;10382972;10386589;10468607;10480952;10540230;10593899;10596943;10631941;10631952;10639150;10706100;10748235;10809722;10809954;10966814;10986281;11027133;11237011;11247303;11375993;11529500;11684289;11790530;11813165;11830519;11853874;11872628;12078484;12198549;12482924;12504904;12727852;12742663;12748383;12809493;12843408;12975309;1311314;1371271;1390635;1400327;14602708;14716310;14731593;1480033;14973287;15226270;15234972;15265795;15565337;15591058;15749704;15837520;15911768;15958533;16133547;16181339;16242130;16415873;1649600;16618111;16631740;16824007;16825321;16857668;16973841;1698775;1707285;17142755;17275357;17283181;17332331;17354228;17452530;17608959;1783204;18046453;18082565;18166152;18268517;18292509;18305481;18434311;18509083;18658137;18802471;18820679;18931679;19010778;19079358;19451267;19498108;1956401;19564404;19571574;19657146;19693541;19714641;19918052;19965672;20142769;20855885;20865800;21030783;21116285;2121367;21297635;21398612;21402738;21441454;21441952;2159879;21604257;21670566;2169257;21723253;2176865;21784848;21864727;2190094;22159414;22164301;22223641;2269296;22967898;23034403;23035980;2307289;23090970;2383557;23845380;2391366;24190977;2546891;25505266;2551898;2557753;28904123;29557506;30425301;3058116;31611695;32350084;32938616;32983136;33592498;33968037;34171305;35051231;35251023;35305807;35443863;35494076;35580925;36010968;37074911;38051285;4216367;6263256;7075587;7481823;7547873;7592972;7650016;7667286;7669817;7746327;7780967;7826345;7890645;7896811;7981201;8015608;8046351;8134367;8145819;8148318;8194591;8207089;8226919;8313912;8314771;8344253;8397411;8415765;8530478;8576151;8621565;8626565;8642258;8645182;8663255;8687433;8804434;8849454;8909537;8939989;8947036;9008168;9065415;9075930;9115292;9148753;9202021;9261109;9311912;9312039;9346290;9422744;9461298;9497313;9539769;9545226;9563472;9578462;9606180;9632662;9727401;9799232;9852107;9856810", "class_list": "", "function": "CTSV (cathepsin V) promotes bladder cancer progression by increasing NF-kappaB activity., [RefSeq, PubMed]; Cathepsin V is correlated with the prognosis and tumor microenvironment in liver cancer., [RefSeq, PubMed]; Cathepsin V: Molecular characteristics and significance in health and disease. Review article, [RefSeq, PubMed]; Cysteine protease. May have an important role in corneal physiology., [UniProtKB, PubMed, PubMed]; The protein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that may play an important role in corneal physiology. This gene is expressed in colorectal and breast carcinomas but not in normal colon, mammary gland, or peritumoral tissues, suggesting a possible role for this gene in tumor processes. Alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2011]., [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": 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": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 5, "disease_count": 11, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "O60233;Q2TB86;Q5T1U0", "ec_number_list": "3.4.24.-;3.4.22.43;3.4.23.5;3.4.22.15;3.4.22.1;3.4.24.17;3.4.24.23;3.4.16.5;3.4.16.-;3.4.23.34;3.4.24.35;3.4.22.27;3.4.22.42;3.4.22.38;3.4.14.1;3.4.22.41", "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0004197 cysteine-type endopeptidase activity;GO:0008234 cysteine-type peptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005764 lysosome;GO:0043202 lysosomal lumen", "go_biological_process": "GO:0022617 extracellular matrix disassembly;GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II;GO:0051603 proteolysis involved in protein catabolic process;GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 23.5, "record_id": "O60911-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P52907-1", "uniprot_id": "CAZA1_HUMAN", "mass": 32923.0, "length": 286, "protein_name": "F-actin-capping protein subunit alpha-1", "gene_name": "CAPZA1", "organism": "Human", "refseq_name": "F-actin-capping protein subunit alpha-1", "refseq_ac": "NP_006126", "gene_names_uniprotkb": "CAPZA1", "gene_names_refseq": "CAPPA1; CAPZA1; CAPZ; CAZ1", "protein_names_uniprotkb": "F-actin-capping protein subunit alpha-1; CapZ alpha-1", "protein_names_refseq": "Cap Z; F-actin-capping protein subunit alpha-1; capZ alpha-1; capping actin protein of muscle Z-line alpha subunit 1; capping protein (actin filament) muscle Z-line, alpha 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:829); (R-HSA-2132295); (R-HSA-3371497); (R-HSA-6807878); (R-HSA-6811436); (R-HSA-879415); (R-HSA-8950505); (R-HSA-9662360); (R-HSA-983231)", "pathway_count": 9, "publication_count": 399, "publication_id_list": "10025409;10036229;10052452;10064083;10072072;10318838;10359595;10445031;10480952;10531386;10540230;10559959;10559986;10562278;10593899;10631941;10631952;10639150;10679020;10747884;10748235;10761932;10809954;10903204;10921873;11035033;11042108;11062261;11080672;11163272;11172815;11242053;11285137;11306556;11461920;11483508;11529500;11589254;11684289;11689559;11701661;11703931;11726511;11744692;11748249;11751636;11751894;11790530;11813165;11853874;11895428;11950885;12032298;12047556;12070132;12078484;12134158;12198549;12388752;12401177;12427746;12432908;12447383;12470955;12480931;12634853;12742663;12748383;12781197;12925777;12935895;13486053;14654841;14731593;14742712;1493716;15020713;15037235;15159550;15247287;15381148;15483056;15591061;15616190;15632110;15710388;15728195;15749704;15813748;15831458;15878873;15911768;15914536;16030262;16038020;16054028;16181339;16207721;16242130;1630448;1631136;16314391;16403413;1651976;16618111;16633337;16723730;1680566;16824007;16912714;16926190;16940185;17027967;17142755;17196961;17253781;17274799;17283181;17360540;17377532;17429068;17451557;17488286;17591767;17760859;17804755;17827179;17927562;17956946;18046453;18086915;18182008;18215318;18243712;18254226;18283113;18292509;18524849;18635947;18641641;18664496;18809720;1898986;19015319;19109418;19164740;19293402;19296914;19359544;1956401;19564404;1957170;19608861;19631211;19635840;19651622;19691289;19753100;19758564;19922875;20006655;20038533;20068231;20072699;20112406;20357002;20420828;20427317;20530532;20627800;20637885;21116285;21158691;21173190;21183720;2121367;21219331;21376746;21441454;21689688;21700222;21796517;21844168;21872626;218813;2190094;21993680;22011577;22013193;22094269;22130221;22266222;22304919;22318716;22433123;22562055;22645359;22791416;22891260;23186163;23333653;23481700;23719902;23783758;23839779;2391366;24012426;24119662;24694367;24714562;24806965;24891604;24951542;25233431;25418920;25436559;25453831;25492864;25576301;25810538;25892735;26073023;26154972;26203193;26313416;26375851;26728094;26758079;26845023;26992070;27397612;27452731;27462449;27663436;27862975;27920218;28083797;28218747;28228285;28301631;28446606;28514659;28649982;28755533;28832583;28834231;28904123;28919297;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30197098;30315122;30361697;30397120;30410026;30429286;30444036;30484775;30779550;30833945;31092671;31110491;31141847;31154438;31217245;31222486;31530632;31731497;31826031;31844290;31848261;31998317;32016915;32157095;32161166;32265295;32320027;32350084;32357974;32387766;32448030;32502341;32544881;32897882;32938616;32982970;32983136;33091337;33214551;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34087483;3409321;34171305;34229054;34357683;34725712;34796874;35051231;35154160;35251023;35561310;35580925;36010968;36215666;36241641;36643863;37938771;38665916;39990658;40596516;40914422;6645495;6891012;7481823;7592972;7650016;7667286;7691276;8001155;8046351;8128252;8132710;8134367;8145819;8148318;8157723;8221884;8253837;8282004;8313912;8397411;8415765;8505331;8529130;8560673;8620540;8636227;8642258;8662638;8687433;8816476;8849454;8909537;8939989;8947036;8991093;9030515;9050864;9065479;9075930;9114004;9150144;9177194;9202021;9230307;9244307;9288971;9311912;9312039;9323141;9326583;9331217;9380700;9382863;9405360;9422515;9464360;9464361;9490716;9497313;9539769;9545226;9606180;9667968;9671725;9671731;9733780;9751720;9927674;9990005", "class_list": "", "function": "CAPZA1 is a member of the F-actin capping protein alpha subunit family. This gene encodes the alpha subunit of the barbed-end actin binding protein. The protein regulates growth of the actin filament by capping the barbed end of growing actin filaments. [provided by RefSeq, Jul 2008]., [RefSeq]; Capping protein regulates endosomal trafficking by controlling F-actin density around endocytic vesicles and recruiting RAB5 effectors. Publication Status: Online-Only, [RefSeq, PubMed]; Exosome-Delivered circSTAU2 Inhibits the Progression of Gastric Cancer by Targeting the miR-589/CAPZA1 Axis. Publication Status: Online-Only, [RefSeq, PubMed]; F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments. May play a role in the formation of epithelial cell junctions (PubMed:22891260). Forms, with CAPZB, the barbed end of the fast growing ends of actin filaments in the dynactin complex and stabilizes dynactin structure. The dynactin multiprotein complex activates the molecular motor dynein for ultra-processive transport along microtubules (By similarity)., [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": 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": 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": "Q53FQ6;Q6FHD5", "ec_number_list": "", "go_molecular_function": "GO:0003779 actin binding;GO:0051015 actin filament binding;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0015629 actin cytoskeleton;GO:0070062 extracellular exosome", "go_biological_process": "GO:0034329 cell junction assembly;GO:0030036 actin cytoskeleton organization;GO:0051016 barbed-end actin filament capping;GO:0065003 protein-containing complex assembly", "synthesized_glycan_count": 0, "hit_score": 40.2, "record_id": "P52907-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5T0J3-1", "uniprot_id": "CA220_HUMAN", "mass": 15074.0, "length": 134, "protein_name": "Putative uncharacterized protein C1orf220", "gene_name": "C1orf220", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "C1orf220", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein C1orf220", "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": "B2RN72;Q8NAD3", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q5T0J3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6P4E1-4", "uniprot_id": "GOLM2_HUMAN", "mass": 49498.0, "length": 436, "protein_name": "Protein GOLM2", "gene_name": "GOLM2", "organism": "Human", "refseq_name": "protein GOLM2 isoform a", "refseq_ac": "NP_612432", "gene_names_uniprotkb": "GOLM2; CASC4; PRO6308", "gene_names_refseq": "CASC4; GOLM2; H63", "protein_names_uniprotkb": "Protein GOLM2; CASC4; Cancer susceptibility candidate gene 4 protein; Golgi membrane protein 2", "protein_names_refseq": "cancer susceptibility 4; cancer susceptibility candidate 4; cancer susceptibility candidate gene 4 protein; gene associated with HER-2/neu overexpression; protein CASC4; protein GOLM2 isoform a; protein GOLM2", "tax_id": 9606, "disease": "", "pathway": " (hsa:113201)", "pathway_count": 1, "publication_count": 44, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;12764679;12845212;12975309;18452278;19651622;20068231;20166139;23090970;23186163;23584533;24190977;24275569;25732826;25813380;29485866;29557506;29741879;30459171;31020640;31611695;31844290;32157095;32350084;32387766;32820145;32938616;33214551;33592498;33968037;34019948;34078123;34357683;34509645;35051231;35251023;35289036;36215666;37493437;38665916;40307207;40596516", "class_list": "", "function": "In spite of missing correlation between survival and her-2/ neu overexpression in our study, the predictive value of the her-2/ neu protooncogene in adjuvant therapy in OSCC needs further investigation., [RefSeq, PubMed]; Of 62 analyzed specimens, 43 tumors were HER2/neu negative compared to 19 HER2/neu positive tumors. Kaplan-Meier analysis indicated no difference in survival according to HER2/neu expression (p = 0.31, log-rank test = 1.10, [RefSeq, PubMed]; Shedding of cancer susceptibility candidate 4 by the convertases PC7/furin unravels a novel secretory protein implicated in cancer progression. Publication Status: Online-Only, [RefSeq, PubMed]; The increased expression level of this gene is associated with HER-2/neu proto-oncogene overexpression. Amplification and resulting overexpression of this proto-oncogene are found in approximately 30% of human breast and 20% of human ovarian cancers. Alternatively spliced variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Dec 2010]., [RefSeq]; Tn antigen promotes breast cancer metastasis via impairment of CASC4., [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": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 21, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 21, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 21, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 9, "disease_count": 0, "glyco_site_count": 26, "binding_glycan_count": 0, "secondary_ac_list": "B4DPZ6;G5E934;Q6UY45;Q96EM1", "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": 8.0, "record_id": "Q6P4E1-4", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86X55-3", "uniprot_id": "CARM1_HUMAN", "mass": 65854.0, "length": 608, "protein_name": "Histone-arginine methyltransferase CARM1", "gene_name": "CARM1", "organism": "Human", "refseq_name": "histone-arginine methyltransferase CARM1 isoform 1", "refseq_ac": "NP_954592", "gene_names_uniprotkb": "CARM1; PRMT4", "gene_names_refseq": "CARM1; PRMT4", "protein_names_uniprotkb": "Histone-arginine methyltransferase CARM1; 2.1.1.319; Coactivator-associated arginine methyltransferase 1; Protein arginine N-methyltransferase 4", "protein_names_refseq": "histone-arginine methyltransferase CARM1 isoform 1; histone-arginine methyltransferase CARM1; protein arginine N-methyltransferase 4", "tax_id": 9606, "disease": "hepatocellular adenoma (Disease Ontology:DOID:0050868); estrogen-receptor positive breast cancer (Disease Ontology:DOID:0060075); asthma (Disease Ontology:DOID:2841); hepatocellular carcinoma (Disease Ontology:DOID:684); prostate carcinoma in situ (Disease Ontology:DOID:8634)", "pathway": " (hsa:10498); (R-HSA-1368108); (R-HSA-1989781); (R-HSA-2151201); (R-HSA-2426168); (R-HSA-3214858); (R-HSA-381340); (R-HSA-400206); (R-HSA-6804114); (R-HSA-9018519); (R-HSA-9707564); (R-HSA-9707616); (R-HSA-9931509); (R-HSA-9933387)", "pathway_count": 14, "publication_count": 452, "publication_id_list": 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"class_list": "", "function": "CARM1 hypermethylates the NuRD chromatin remodeling complex to promote cell cycle gene expression and breast cancer development., [RefSeq, PubMed]; CARM1 phosphorylation at S595 by p38gamma MAPK drives ROS-mediated cellular senescence., [RefSeq, PubMed]; Methylates (mono- and asymmetric dimethylation) the guanidino nitrogens of arginyl residues in several proteins involved in DNA packaging, transcription regulation, pre-mRNA splicing, and mRNA stability (PubMed:12237300, PubMed:16497732, PubMed:19405910). Recruited to promoters upon gene activation together with histone acetyltransferases from EP300/P300 and p160 families, methylates histone H3 at 'Arg-17' (H3R17me), forming mainly asymmetric dimethylarginine (H3R17me2a), leading to activation of transcription via chromatin remodeling (PubMed:12237300, PubMed:16497732, PubMed:19405910). During nuclear hormone receptor activation and TCF7L2/TCF4 activation, acts synergically with EP300/P300 and either one of the p160 histone acetyltransferases NCOA1/SRC1, NCOA2/GRIP1 and NCOA3/ACTR or CTNNB1/beta-catenin to activate transcription (By similarity). During myogenic transcriptional activation, acts together with NCOA3/ACTR as a coactivator for MEF2C (By similarity). During monocyte inflammatory stimulation, acts together with EP300/P300 as a coactivator for NF-kappa-B (By similarity). Acts as a coactivator for PPARG, promotes adipocyte differentiation and the accumulation of brown fat tissue (By similarity). Plays a role in the regulation of pre-mRNA alternative splicing by methylation of splicing factors (By similarity). Also seems to be involved in p53/TP53 transcriptional activation (By similarity). Methylates EP300/P300, both at 'Arg-2142', which may loosen its interaction with NCOA2/GRIP1, and at 'Arg-580' and 'Arg-604' in the KIX domain, which impairs its interaction with CREB and inhibits CREB-dependent transcriptional activation (PubMed:15731352). Also methylates arginine residues in RNA-binding proteins PABPC1, ELAVL1 and ELAV4, which may affect their mRNA-stabilizing properties and the half-life of their target mRNAs (By similarity). Acts as a transcriptional coactivator of ACACA/acetyl-CoA carboxylase by enriching H3R17 methylation at its promoter, thereby positively regulating fatty acid synthesis (By similarity). Independently of its methyltransferase activity, involved in replication fork progression: promotes PARP1 recruitment to replication forks, leading to poly-ADP-ribosylation of chromatin at replication forks and reduced fork speed (PubMed:33412112)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Methylates PAB1 and TARPP, suggesting a role in regulating transcription/translation., [RefSeq, PubMed]; Protein Arginine Methyltransferase CARM1 in Human Breast Cancer. Review article, [RefSeq, PubMed]; This gene belongs to the protein arginine methyltransferase (PRMT) family. The encoded enzyme catalyzes the methylation of guanidino nitrogens of arginyl residues of proteins. The enzyme acts specifically on histones and other chromatin-associated proteins and is involved in regulation of gene expression. The enzyme may act in association with other proteins or within multi-protein complexes and may play a role in cell type-specific functions and cell lineage specification. A related pseudogene is located on chromosome 9. [provided by RefSeq, Aug 2013]., [RefSeq]; Trans-Activation of the Coactivator-Associated Arginine Methyltransferase 1 (Carm1) Gene by the Oncogene Product Tax of Human T-Cell Leukemia Virus Type 1. Publication Status: Online-Only, [RefSeq, PubMed]; Tyrosine phosphorylation of CARM1 promotes its enzymatic activity and alters its target specificity. 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": 4, "mined_n_glycosites": 0, "mined_o_glycosites": 4, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A6NN38", "ec_number_list": "3.5.1.-;3.5.1.98;2.3.1.48;1.14.19.44;2.4.1.17;2.1.1.319;7.6.2.1;1.14.14.1;4.2.1.152;1.3.8.7;2.3.1.37;3.6.4.13;1.14.14.23;1.14.14.26;2.3.1.21;6.2.1.3;6.2.1.24;6.2.1.15;2.5.1.21;1.1.1.40;2.7.11.22;2.7.11.23;2.3.1.-;2.3.3.10;1.14.14.80;2.8.2.14;2.8.2.2;1.8.1.9;1.11.1.2;3.6.4.-;6.2.1.-;2.3.1.57;2.1.1.-;3.1.13.1;5.6.2.6", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0000976 transcription cis-regulatory region binding;GO:0008013 beta-catenin binding;GO:0008276 protein methyltransferase activity;GO:0016274 protein-arginine N-methyltransferase activity", "go_cellular_component": "GO:0043596 nuclear replication fork;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0008284 positive regulation of cell population proliferation;GO:0045600 positive regulation of fat cell differentiation;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 45.5, "record_id": "Q86X55-3", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96PX6-1", "uniprot_id": "CC85A_HUMAN", "mass": 59976.0, "length": 553, "protein_name": "Coiled-coil domain-containing protein 85A", "gene_name": "CCDC85A", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 85A isoform 2", "refseq_ac": "NP_001073902", "gene_names_uniprotkb": "CCDC85A; KIAA1912", "gene_names_refseq": "CCDC85A", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 85A", "protein_names_refseq": "coiled-coil domain-containing protein 85A isoform 2; coiled-coil domain-containing protein 85A", "tax_id": 9606, "disease": "", "pathway": " (hsa:114800)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "25009281;26768311;32265295", "class_list": "", "function": "May play a role in cell-cell adhesion and epithelium development through its interaction with proteins of the beta-catenin family., [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": 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": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005912 adherens junction", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q96PX6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NWV4-1", "uniprot_id": "CZIB_HUMAN", "mass": 18048.0, "length": 160, "protein_name": "CXXC motif containing zinc binding protein", "gene_name": "CZIB", "organism": "Human", "refseq_name": "CXXC motif containing zinc binding protein isoform 2", "refseq_ac": "NP_001291688", "gene_names_uniprotkb": "CZIB; C1orf123", "gene_names_refseq": "C1orf123; CZIB", "protein_names_uniprotkb": "CXXC motif containing zinc binding protein; UPF0587 protein C1orf123", "protein_names_refseq": "CXXC motif containing zinc binding protein isoform 2; UPF0587 protein C1orf123", "tax_id": 9606, "disease": "", "pathway": " (hsa:54987)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "23186163;23301498;26919524;28510447;30260988;30280012;30429286;31530632;31844290;32938616;33592498;33912179;33968037;38665916", "class_list": "", "function": "Study performed yeast two-hybrid screening of the human proteome and found an uncharacterized protein encoded as open reading frame 123 in chromosome 1 (C1orf123) that can interact specifically with the heavy metal-associated domain of a copper chaperone for superoxide dismutase. 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": 4, "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": "", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q9NWV4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UPW5-1", "uniprot_id": "CBPC1_HUMAN", "mass": 138448.0, "length": 1226, "protein_name": "Cytosolic carboxypeptidase 1", "gene_name": "AGTPBP1", "organism": "Human", "refseq_name": "cytosolic carboxypeptidase 1 isoform a", "refseq_ac": "NP_001273644", "gene_names_uniprotkb": "AGTPBP1; CCP1; KIAA1035; NNA1", "gene_names_refseq": "AGTPBP1; CCP1; CONDCA; NNA1", "protein_names_uniprotkb": "Cytosolic carboxypeptidase 1; 3.4.17.-; 3.4.17.24; ATP/GTP-binding protein 1; Nervous system nuclear protein induced by axotomy protein 1 homolog; Protein deglutamylase CCP1", "protein_names_refseq": "ATP/GTP binding protein 1; carboxypeptidase-tubulin; cytosolic carboxypeptidase 1 isoform a; cytosolic carboxypeptidase 1; nervous system nuclear protein induced by axotomy protein 1 homolog; protein deglutamylase CCP1; soluble carboxypeptidase; tubulinyl-Tyr carboxypeptidase; tyrosine carboxypeptidase", "tax_id": 9606, "disease": "retinitis pigmentosa (Disease Ontology:DOID:10584); neurodegeneration, childhood-onset, with cerebellar atrophy (MONDO:MONDO:0032650)", "pathway": " (hsa:23287); (R-HSA-8955332)", "pathway_count": 2, "publication_count": 92, "publication_id_list": "10.1101/2023.09.13.557529;11237011;1520276;15890843;16901895;16959974;17244817;17244818;17360631;17499049;18331838;19524510;19531357;20519502;21074048;22170066;22424782;22544926;23085998;23186163;23358242;23481700;24022482;24714562;24715725;25103237;25468068;25576301;25645385;25892735;25957412;26154972;26375851;26728094;26992070;27600516;27846572;28159928;28228285;28514659;28832583;28834231;28904123;29146868;29242379;29437277;29493099;29508533;29557506;29593216;29632711;29769354;29786170;30315122;30420557;30524438;30976113;31217245;31844290;32157095;32357974;32387766;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33592498;33691108;33717175;33909173;33936100;33968037;33981976;34171305;34211107;34405274;34509645;34637898;34932366;35051231;35318648;35580925;36010968;36241641;36284347;36581221;37937809;39129004;7452228", "class_list": "", "function": "A novel pathogenic variant in the 3' end of the AGTPBP1 gene gives rise to neurodegeneration without cerebellar atrophy: an expansion of the disease phenotype? Review article, [RefSeq, PubMed]; Deleterious genetic changes in AGTPBP1 result in teratozoospermia with sperm head and flagella defects., [RefSeq, PubMed]; Metallocarboxypeptidase that mediates protein deglutamylation of tubulin and non-tubulin target proteins (PubMed:22170066, PubMed:24022482, PubMed:30420557). Catalyzes the removal of polyglutamate side chains present on the gamma-carboxyl group of glutamate residues within the C-terminal tail of alpha- and beta-tubulin (PubMed:22170066, PubMed:24022482, PubMed:30420557). Specifically cleaves tubulin long-side-chains, while it is not able to remove the branching point glutamate (PubMed:24022482). Also catalyzes the removal of polyglutamate residues from the carboxy-terminus of alpha-tubulin as well as non-tubulin proteins such as MYLK (PubMed:22170066). Involved in KLF4 deglutamylation which promotes KLF4 proteasome-mediated degradation, thereby negatively regulating cell pluripotency maintenance and embryogenesis (PubMed:29593216)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; NNA1 is a zinc carboxypeptidase that contains nuclear localization signals and an ATP/GTP-binding motif that was initially cloned from regenerating spinal cord neurons of the mouse.[supplied by OMIM, Jul 2002]., [RefSeq]; Targeting AGTPBP1 inhibits pancreatic cancer progression via regulating microtubules and ERK signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; The AGTPBP1 gene in neurobiology., [RefSeq, PubMed]; We conclude that complete loss-of-function of AGTPBP1 in humans, just like in mice and sheep, is associated with cerebellar and motor neuron disease, reminiscent of Pontocerebellar Hypoplasia Type 1 (PCH1)., [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": 30, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DIT6;B4DRZ8;Q5VV80;Q63HM7;Q658P5;Q6P9D6;Q9H8U6;Q9H9W8;Q9NVK1", "ec_number_list": "3.6.5.-;3.4.17.-;3.4.17.24", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0004181 metallocarboxypeptidase activity;GO:0015631 tubulin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0006508 proteolysis;GO:0050905 neuromuscular process;GO:0007005 mitochondrion organization;GO:0021702 cerebellar Purkinje cell differentiation;GO:0001754 eye photoreceptor cell differentiation", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "Q9UPW5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3B7I2-1", "uniprot_id": "CNPY1_HUMAN", "mass": 10960.0, "length": 92, "protein_name": "Protein canopy homolog 1", "gene_name": "CNPY1", "organism": "Human", "refseq_name": "protein canopy homolog 1 isoform b", "refseq_ac": "NP_001096646", "gene_names_uniprotkb": "CNPY1", "gene_names_refseq": "CNPY1", "protein_names_uniprotkb": "Protein canopy homolog 1", "protein_names_refseq": "canopy 1 homolog; protein canopy homolog 1 isoform b; protein canopy homolog 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:285888)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "Cnpy1 is expressed in the midbrain-hindbrain (MHB) boundary in zebrafish, binds FGFR1 (MIM 136350), and plays a role in FGF signaling (Hirate and Okamoto, 2006 [PubMed 16488878]).[supplied by OMIM, Dec 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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NGX3", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q3B7I2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NS75-1", "uniprot_id": "CLTR2_HUMAN", "mass": 39635.0, "length": 346, "protein_name": "Cysteinyl leukotriene receptor 2", "gene_name": "CYSLTR2", "organism": "Human", "refseq_name": "cysteinyl leukotriene receptor 2", "refseq_ac": "NP_001295394", "gene_names_uniprotkb": "CYSLTR2; CYSLT2R; CYSLT2; PSEC0146", "gene_names_refseq": "CYSLT2R; CYSLT2; CYSLTR2; GPCR21; HG57; HPN321; KPG_011; PSEC0146; hGPCR21", "protein_names_uniprotkb": "Cysteinyl leukotriene receptor 2; CysLTR2; G protein-coupled receptor GPCR21; G protein-coupled receptor HG57; HPN321; hGPCR21", "protein_names_refseq": "G-protein coupled receptor GPCR21; G-protein coupled receptor HG57; cysteinyl leukotriene CysLT2 receptor; cysteinyl leukotriene receptor 2", "tax_id": 9606, "disease": "obstructive sleep apnea (Disease Ontology:DOID:0050848); aspirin-induced respiratory disease (Disease Ontology:DOID:0080822); asthma (Disease Ontology:DOID:2841); rhinitis (Disease Ontology:DOID:4483)", "pathway": " (hsa:57105); (R-HSA-391906); (R-HSA-416476); (R-HSA-418555); (R-HSA-9664535)", "pathway_count": 5, "publication_count": 96, "publication_id_list": "10191087;10391245;10462554;10567430;10727532;10851239;10861009;10913337;10934230;11007482;11015615;11093801;11237011;11742120;11753430;12036966;12044878;12058044;12106601;12120503;12180353;12235216;12860470;13549488;14671004;1517224;15765929;15769620;15951850;16182515;16268778;16313925;16339447;16687412;16754659;16923326;16990797;17168849;18044684;18434541;18515384;18577758;18936096;1905813;19105585;19876791;19929708;20381629;21036126;2163110;2417744;24687066;2491850;2543269;2548477;2553411;2553705;26417854;2841328;2871555;29226425;29443750;29557506;29602314;30833991;3086311;31092671;31154438;3127824;31279028;31399091;31983287;32226383;32497535;32540603;32618402;32715661;33049737;34932366;35777853;36834820;38088514;39894887;6085243;7937899;8340388;8514797;8664309;8672451;9177352;9263355;9305846;9417641;9504401;9651336;9770463", "class_list": "", "function": "DNA Methylation and Gene Expression of the Cysteinyl Leukotriene Receptors as a Prognostic and Metastatic Factor for Colorectal Cancer Patients. Publication Status: Online-Only, [RefSeq, PubMed]; Plasmalogen-Mediated Activation of GPCR21 Regulates Cytolytic Activity of NK Cells against the Target Cells., [RefSeq, PubMed]; Receptor for cysteinyl leukotrienes. The response is mediated via a G protein that activates a phosphatidylinositol-calcium second messenger system. Stimulation by BAY u9773, a partial agonist, induces specific contractions of pulmonary veins and might also have an indirect role in the relaxation of the pulmonary vascular endothelium. The rank order of affinities for the leukotrienes is LTC4 = LTD4 >> LTE4., [UniProtKB]; The IL-31/CysLT2R axis is associated with itching in patients with allergic rhinitis., [RefSeq, PubMed]; The cysteinyl leukotrienes LTC4, LTD4, and LTE4 are important mediators of human bronchial asthma. Pharmacologic studies have determined that cysteinyl leukotrienes activate at least 2 receptors, the protein encoded by this gene and CYSLTR1. This encoded receptor is a member of the superfamily of G protein-coupled receptors. It seems to play a major role in endocrine and cardiovascular systems. [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": 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": 24, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q9HCQ2", "ec_number_list": "", "go_molecular_function": "GO:0001631 cysteinyl leukotriene receptor activity;GO:0004974 leukotriene receptor activity;GO:0004966 galanin receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0006955 immune response;GO:0007218 neuropeptide signaling pathway", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "Q9NS75-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P08572-1", "uniprot_id": "CO4A2_HUMAN", "mass": 167553.0, "length": 1712, "protein_name": "Collagen alpha-2(IV) chain", "gene_name": "COL4A2", "organism": "Human", "refseq_name": "collagen alpha-2(IV) chain preproprotein", "refseq_ac": "NP_001837", "gene_names_uniprotkb": "COL4A2", "gene_names_refseq": "BSVD2A; BSVD2B; BSVD2; COL4A2; ICH; POREN2", "protein_names_uniprotkb": "Collagen alpha-2(IV) chain", "protein_names_refseq": "canstatin; collagen alpha-2(IV) chain preproprotein; collagen alpha-2(IV) chain", "tax_id": 9606, "disease": "porencephaly (Disease Ontology:DOID:0060263); congenital muscular dystrophy with rapid progression (Disease Ontology:DOID:0061202); autosomal recessive brain small vessel disease 2B (Disease Ontology:DOID:0061233); autosomal dominant brain small vessel disease 2A (Disease Ontology:DOID:0112314); severe pre-eclampsia (Disease Ontology:DOID:13129); uterine fibroid (Disease Ontology:DOID:13223); atherosclerosis (Disease Ontology:DOID:1936); myopathy (Disease Ontology:DOID:423); collagen disease (Disease Ontology:DOID:854); hemorrhage, intracerebral, susceptibility to (MONDO:MONDO:0100533)", "pathway": " (hsa:1284); (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-3000480); (R-HSA-419037); (R-HSA-8948216); (R-HSA-9638630)", "pathway_count": 16, "publication_count": 357, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10022829;10049780;10209034;10224290;10339611;10366422;10438935;10479448;10508235;10543983;10551873;10593924;10596943;10605720;10625665;10640428;10651831;10673326;10673366;10686426;10713152;10722588;10809722;10811134;10934207;10966814;10982388;11013208;11054877;11084047;11119712;11158588;11237011;11259413;11313359;11518510;11564734;11572855;11577169;11713259;11739641;11820786;11847221;11927537;11964076;11980922;11986329;12011424;12211432;12225811;12237301;12369853;1237296;12473679;12475640;12482924;12488451;12496264;12538485;12579531;12585966;12646579;12682293;12761161;12763022;12765789;12807887;12847263;12876280;1311092;1323838;1339697;1348714;1376317;1400327;14500733;14602708;14609958;14715956;1484505;15005656;15044469;15075323;15207811;15240572;15257288;15265795;15296743;15330449;15345499;15383545;1544908;15615512;1567360;15713743;15767546;1577494;15837520;1588291;15899827;15950618;16002701;16051604;16237101;16239428;16267048;16272566;16293224;16331269;1639841;16413178;16436588;16474853;16493581;16525990;16563355;16581764;16591531;16731529;16754661;16806867;16825197;16882874;16926412;16933105;16984918;1704217;17088321;171650;17179669;17332894;17339034;17367763;17588949;17604334;17709607;17943726;17968485;18059411;18487197;1852209;18559524;18599485;18622425;18710925;18775695;19073604;19075007;19227971;19502598;19564526;19693541;19729652;19911804;20033473;2005102;20068231;2010551;20360967;2045422;20470363;2059554;20690820;20705068;20810988;20813817;20849212;20888598;20956340;21251937;21376233;21527998;21593211;21642437;2169335;21782039;21789315;21878990;21935455;21967573;22134916;22209246;22209247;22241472;22333902;22382088;22493504;2251254;2253219;22539938;22570530;22842973;22884367;22933705;2307289;2318890;23197261;23374253;23583652;23584533;2364322;2412224;2420006;2430969;2439508;24715725;25328409;2537292;2543975;2548603;2551898;25597754;25645385;27452731;2809592;28218747;2834383;28435517;2844531;2845110;2846280;29093181;29137923;29263244;29408302;29557506;29789417;29964125;3025878;3038863;30389923;30459171;3082888;31085175;31154438;31611695;3173483;3182844;31844290;3198637;32157095;3223920;32571911;32938616;3345760;33592498;33912663;33968037;3467373;34846842;35051231;35318648;35580925;3582677;3595596;36241641;36603335;3692475;37217939;37642429;37938771;38253038;38565785;3872795;39006838;3905801;39216230;39220121;3938630;3992061;3997977;41816;5246001;5723342;6088540;6129847;6193777;6255257;6258630;6270089;6307276;641035;6439184;6643500;6694361;6809411;710450;7499434;7505120;7525578;7527058;7541634;7542249;7542669;7559467;7607209;7685013;7693733;7852349;7890717;7925562;8002934;8118028;8127896;8207089;8262246;8317999;8344274;8429030;8440685;8463259;8548560;8560266;8576151;8636146;8751442;8784195;8798654;8838667;8900172;8910476;8920930;8943283;8999957;9008168;9054364;9092507;9225214;9245798;9251239;9252349;9294172;9334164;9341124;9346959;9398268;9443892;9465098;9468508;9470928;9511720;9545296;9548586;9560306;9565552;9582318;9645947;9651395;9659899;9659900;9685393;9739761;9856810;9858236;9949188", "class_list": "", "function": "Association of the COL4A2 Gene Polymorphisms with Primary Intracerebral Hemorrhage Risk and Outcome in Chinese Han Population., [RefSeq, PubMed]; COL4A2 enhances thyroid cancer cell proliferation through the AKT pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Canstatin, a cleavage product corresponding to the collagen alpha 2(IV) NC1 domain, possesses both anti-angiogenic and anti-tumor cell activity. It inhibits proliferation and migration of endothelial cells, reduces mitochondrial membrane potential, and induces apoptosis. Specifically induces Fas-dependent apoptosis and activates procaspase-8 and -9 activity. Ligand for alphavbeta3 and alphavbeta5 integrins., [UniProtKB]; Col4a2 Mutations Contribute to Infantile Epileptic Spasm Syndrome and Neuroinflammation. Publication Status: Online-Only, [RefSeq, PubMed]; Collagen IV deficiency causes hypertrophic remodeling and endothelium-dependent hyperpolarization in small vessel disease with intracerebral hemorrhage., [RefSeq, PubMed]; This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. The C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. 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. [provided by RefSeq, Jul 2008]., [RefSeq]; 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, UniProtKB, UniProtKB]; Venous Tortuosity in COL4A2-Associated Gould Syndrome., [RefSeq, PubMed]", "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": 1, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 17, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 17, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 17, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 45, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 10, "glyco_site_count": 23, "binding_glycan_count": 0, "secondary_ac_list": "Q14052;Q548C3;Q5VZA9;Q66K23", "ec_number_list": "", "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0005201 extracellular matrix structural constituent;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:0070062 extracellular exosome;GO:0005587 collagen type IV trimer", "go_biological_process": "GO:0001525 angiogenesis;GO:0006351 DNA-templated transcription;GO:0030198 extracellular matrix organization;GO:0030199 collagen fibril organization;GO:0014823 response to activity", "synthesized_glycan_count": 0, "hit_score": 38.3, "record_id": "P08572-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NI79-1", "uniprot_id": "CCD69_HUMAN", "mass": 34796.0, "length": 296, "protein_name": "Coiled-coil domain-containing protein 69", "gene_name": "CCDC69", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 69", "refseq_ac": "NP_056436", "gene_names_uniprotkb": "CCDC69", "gene_names_refseq": "CCDC69", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 69", "protein_names_refseq": "coiled-coil domain-containing protein 69", "tax_id": 9606, "disease": "", "pathway": " (hsa:26112)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11237011;20962590;23186163;24275569;24714562;27846572;27862975;29557506;30651135;31844290;32350084;32502341;32938616;32983136;33634680;33691108;33717175;33912179;33968037;35051231", "class_list": "", "function": "CCDC69 could play an important role in regulating chemoresistance in ovarian cancer through activation of p14ARF/MDM2/p53 signaling pathway Publication Status: Online-Only, [RefSeq, PubMed]; May act as a scaffold to regulate the recruitment and assembly of spindle midzone components. Required for the localization of AURKB and PLK1 to the spindle midzone., [UniProtKB, PubMed]; Results indicate that CCDC69 acts as a scaffold to regulate the recruitment of midzone components and the assembly of central spindles., [RefSeq, PubMed]; Study on CCDC69 interfering with the prognosis of patients with breast cancer through PPAR signal 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A8K9X6", "ec_number_list": "", "go_molecular_function": "GO:0008017 microtubule binding", "go_cellular_component": "GO:0005634 nucleus;GO:0051233 spindle midzone;GO:0030496 midbody;GO:0005819 spindle", "go_biological_process": "GO:0051255 spindle midzone assembly", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "A6NI79-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P80098-1", "uniprot_id": "CCL7_HUMAN", "mass": 11200.0, "length": 99, "protein_name": "C-C motif chemokine 7", "gene_name": "CCL7", "organism": "Human", "refseq_name": "C-C motif chemokine 7 precursor", "refseq_ac": "NP_006264", "gene_names_uniprotkb": "CCL7; MCP3; SCYA6; SCYA7", "gene_names_refseq": "CCL7; FIC; MARC; MCP-3; MCP3; NC28; SCYA6; SCYA7", "protein_names_uniprotkb": "C-C motif chemokine 7; MCP-3; Monocyte chemoattractant protein 3; Monocyte chemotactic protein 3; NC28; Small-inducible cytokine A7", "protein_names_refseq": "C-C motif chemokine 7 precursor; C-C motif chemokine 7; chemokine (C-C motif) ligand 7; monocyte chemoattractant protein 3; small inducible cytokine A7 (monocyte chemotactic protein 3); small-inducible cytokine A7", "tax_id": 9606, "disease": "COVID-19 (Disease Ontology:DOID:0080600); silicosis (Disease Ontology:DOID:10325); interstitial nephritis (Disease Ontology:DOID:1063); allergic conjunctivitis (Disease Ontology:DOID:11204); multiple sclerosis (Disease Ontology:DOID:2377); nephrosis (Disease Ontology:DOID:2527); bronchiolitis obliterans (Disease Ontology:DOID:2799); asthma (Disease Ontology:DOID:2841); glomerulonephritis (Disease Ontology:DOID:2921); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); rhinitis (Disease Ontology:DOID:4483); periapical granuloma (Disease Ontology:DOID:4617); pneumonia (Disease Ontology:DOID:552); periapical periodontitis (Disease Ontology:DOID:823); ulcerative colitis (Disease Ontology:DOID:8577); viral infectious disease (Disease Ontology:DOID:934); ethmoid sinusitis (Disease Ontology:DOID:9507); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:6354); (R-HSA-380108)", "pathway_count": 2, "publication_count": 60, "publication_id_list": "10229797;10477718;10640743;10706668;10725696;10725697;10781587;11060282;11237011;12149255;12554737;12884299;15067078;15340161;16107333;1613466;1744577;1840701;1891716;20002784;2078213;2217207;2423119;27044744;2970963;3098319;31986264;32360286;3260265;35051231;36585204;38316963;38417634;38914803;39231238;7602097;7622448;7642634;7679328;7851893;7875320;7916328;8048929;8318676;8383238;8461011;8639485;8849694;8898111;9024663;9109648;9164944;9166430;9169459;9207005;9276730;9364936;9390561;9463416;9618518", "class_list": "", "function": "Chemotactic factor that plays an important role in immune regulation. Attracts monocytes, eosinophils, basophils, and T-cells to sites of inflammation or infection. Upon binding to various chemokine receptors including CCR1, CCR2, CCR3, and CCR5, facilitates immune cell migration by guiding them to infected tissues (PubMed:9364936, PubMed:10477718). Interacts with CCR2 to facilitate the release of monocytes from the bone marrow into the bloodstream, maintaining monocyte homeostasis. In turn, monocytes recruited to inflamed or injured tissues can differentiate into macrophages or dendritic cells, which are essential for immune defense and tissue repair. Through CCR1, contributes to macrophage polarization via NF-kappa-B activation which leads to the release of inflammatory factors (PubMed:38417634). In the trigeminal ganglion neurons, activates ERK via CCR2 and CCR3 to enhance neuronal excitability, which contributes to the maintenance of trigeminal neuropathic pain. Additionally, modulates the early immune response in the skin, preventing pathogen dissemination while maintaining cutaneous immune control., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Inhibition of CCL7 improves endothelial dysfunction and vasculopathy in mouse models of diabetes mellitus., [RefSeq, PubMed]; Nucleus pulposus cells regulate macrophages in degenerated intervertebral discs via the integrated stress response-mediated CCL2/7-CCR2 signaling pathway., [RefSeq, PubMed]; Serum CCL7 Is a Novel Prognostic Biomarker of Metastatic Colorectal Cancer., [RefSeq, PubMed]; TREM1[+] tumor-associated macrophages secrete CCL7 to promote hepatocellular carcinoma metastasis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes monocyte chemotactic protein 3, a secreted chemokine which attracts macrophages during inflammation and metastasis. It is a member of the C-C subfamily of chemokines which are characterized by having two adjacent cysteine residues. The protein is an in vivo substrate of matrix metalloproteinase 2, an enzyme which degrades components of the extracellular matrix. This gene is part of a cluster of C-C chemokine family members on chromosome 17q. [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": 3, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "monitoring", "glycan_count": 0, "disease_count": 18, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q569J6", "ec_number_list": "", "go_molecular_function": "GO:0008201 heparin binding;GO:0031726 CCR1 chemokine receptor binding;GO:0008009 chemokine activity;GO:0048020 CCR chemokine receptor binding;GO:0031727 CCR2 chemokine receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0006935 chemotaxis;GO:0006954 inflammatory response;GO:0007165 signal transduction;GO:0007267 cell-cell signaling;GO:0010332 response to gamma radiation", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "P80098-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P13671-1", "uniprot_id": "CO6_HUMAN", "mass": 104786.0, "length": 934, "protein_name": "Complement component C6", "gene_name": "C6", "organism": "Human", "refseq_name": "complement component C6 precursor", "refseq_ac": "NP_000056", "gene_names_uniprotkb": "C6", "gene_names_refseq": "C6", "protein_names_uniprotkb": "Complement component C6", "protein_names_refseq": "complement component 6; complement component C6 precursor; complement component C6", "tax_id": 9606, "disease": "complement component 6 deficiency (Disease Ontology:DOID:0060299); alcohol-associated liver disease (Disease Ontology:DOID:0070658); glomerulonephritis (Disease Ontology:DOID:2921); proteinuria (Disease Ontology:DOID:576); end stage renal disease (Disease Ontology:DOID:783)", "pathway": " (hsa:729); (R-HSA-166665); (R-HSA-977606)", "pathway_count": 3, "publication_count": 89, "publication_id_list": "10531307;10551839;1067618;11237011;11694537;11939578;12055245;1386357;15565285;16079145;16192651;16335952;16999828;17182573;17505110;18452278;19007248;21081667;21788512;22267737;22500023;22802338;22832194;23487775;2420889;24279413;2465906;2466593;2468158;24715725;2481448;26841837;27052168;27452731;27862975;2789218;2808363;293688;293746;29391424;29557506;2956252;2971659;29741879;29789417;301546;3052276;30552328;30779550;31061395;32157095;32363891;32569291;34241972;34667172;35051231;36797260;37074911;38253038;3848661;39814882;39914456;4098172;6177822;6214588;6219696;6222381;6230668;6238120;6334079;6454142;6607952;670886;6906228;702059;7391570;7542572;760802;761607;7690834;7691959;8101442;8345200;8495193;8512929;8786315;9038722;9366265;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 (PubMed:22267737, PubMed:22832194, PubMed:26841837, PubMed:27052168, PubMed:30552328). The MAC is initiated by proteolytic cleavage of C5 into complement C5b in response to the classical, alternative, lectin and GZMK complement pathways (PubMed:30552328, PubMed:39914456, PubMed:39814882). 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 (PubMed:30552328). Together with component C5b, involved in MAC complex assembly: complement C5b and C6 associate with the outer leaflet of target cell membrane, reducing the energy for membrane bending (PubMed:30552328, PubMed:32569291)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Similarities and differences in the structures and proteoform profiles of the complement proteins C6 and C7., [RefSeq, PubMed]; This gene encodes a component of the complement cascade. The encoded protein is part of the membrane attack complex that can be incorporated into the cell membrane and cause cell lysis. Mutations in this gene are associated with complement component-6 deficiency. Transcript variants encoding the same protein have been described.[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": 2, "reported_o_glycosites": 2, "reported_c_glycosites": 6, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 6, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 6, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 3, "total_c_glycosites": 6, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 3, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 60, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 29, "disease_count": 5, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "", "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:0045766 positive regulation of angiogenesis;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": 13.2, "record_id": "P13671-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P25067-1", "uniprot_id": "CO8A2_HUMAN", "mass": 67244.0, "length": 703, "protein_name": "Collagen alpha-2(VIII) chain", "gene_name": "COL8A2", "organism": "Human", "refseq_name": "collagen alpha-2(VIII) chain isoform 2", "refseq_ac": "NP_001281276", "gene_names_uniprotkb": "COL8A2", "gene_names_refseq": "COL8A2; FECD1; FECD; PPCD2; PPCD", "protein_names_uniprotkb": "Collagen alpha-2(VIII) chain; Endothelial collagen", "protein_names_refseq": "collagen VIII, alpha-2 polypeptide; collagen alpha-2(VIII) chain isoform 2; collagen alpha-2(VIII) chain; collagen, type VIII, alpha 2; endothelial collagen", "tax_id": 9606, "disease": "posterior polymorphous corneal dystrophy 2 (Disease Ontology:DOID:0110856); Fuchs' endothelial dystrophy (Disease Ontology:DOID:11555)", "pathway": " (hsa:1296); (R-HSA-1442490); (R-HSA-1650814); (R-HSA-2022090); (R-HSA-216083); (R-HSA-8948216)", "pathway_count": 6, "publication_count": 156, "publication_id_list": "10049780;10209034;10366422;10438935;10479448;10543983;10551873;10593924;10596943;10605720;10640428;10673366;10686422;10713152;10809722;10811134;10934207;10966814;10982388;11013208;11119712;11158588;11237011;11518510;11572855;11577169;11689488;11713259;11927537;11980922;12473679;12475640;12482924;12496264;12579531;12585966;12646579;12682293;12807887;1323838;1400327;14500733;14602708;14990571;15005656;15044469;1515454;15175909;15240572;15257288;15265795;15330449;15345499;15383545;15713743;1577494;15837520;1588291;15899827;15950618;16002701;16051604;16239428;16591531;16731529;16754661;16825197;16933105;1704217;17088321;171650;17339034;17888087;17968485;18487197;18622425;18710925;18775695;19075007;19502598;19615748;19693541;20033473;2005102;2010551;2019595;20470363;20705068;21593211;2169335;21878990;21935455;21967573;22241472;22382088;2253219;22539938;22884367;2307289;23374253;2537292;2543975;2548603;2551898;26992070;27121161;2834383;2845110;29557506;3038863;3173483;3223920;32387766;32931574;33405048;35051231;36284347;38253038;3905801;3938630;6258630;6270089;6307276;6694361;6809411;710450;7505120;7525578;7541634;7542249;7559467;7685013;7890717;8118028;8207089;8344274;8463259;8560266;8576151;8798654;8838667;8910476;8920930;8999957;9008168;9054364;9092507;9251239;9443892;9545296;9560306;9565552;9582318;9651395;9856810;9858236", "class_list": "", "function": "Analysis of SLC4A11, ZEB1, LOXHD1, COL8A2 and TCF4 gene sequences in a multi-generational family with late-onset Fuchs corneal dystrophy found no evidence for found polymorophisms causing the disease in this specific pedigree., [RefSeq, PubMed]; COL8A2 Regulates the Fate of Corneal Endothelial Cells., [RefSeq, PubMed]; Collagen type VIII alpha 2 chain (COL8A2), an important component of the basement membrane of the corneal endothelium, facilitates the malignant development of glioblastoma cells via inducing EMT., [RefSeq, PubMed]; Macromolecular component of the subendothelium. Major component of the Descemet's membrane (basement membrane) of corneal endothelial cells. Also a component of the endothelia of blood vessels. Necessary for migration and proliferation of vascular smooth muscle cells and thus, has a potential role in the maintenance of vessel wall integrity and structure, in particular in atherogenesis (By similarity)., [UniProtKB]; This gene encodes the alpha 2 chain of type VIII collagen. This protein is a major component of the basement membrane of the corneal endothelium and forms homo- or heterotrimers with alpha 1 (VIII) type collagens. Defects in this gene are associated with Fuchs endothelial corneal dystrophy and posterior polymorphous corneal dystrophy type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 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": 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "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": "Q5JV31;Q8TEJ5", "ec_number_list": "", "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0005201 extracellular matrix structural constituent;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:0071953 elastic fiber", "go_biological_process": "GO:0001525 angiogenesis;GO:0030198 extracellular matrix organization;GO:0098609 cell-cell adhesion;GO:0070831 basement membrane assembly", "synthesized_glycan_count": 0, "hit_score": 16.1, "record_id": "P25067-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O76031-1", "uniprot_id": "CLPX_HUMAN", "mass": 69224.0, "length": 633, "protein_name": "ATP-dependent clpX-like chaperone, mitochondrial", "gene_name": "CLPX", "organism": "Human", "refseq_name": "ATP-dependent clpX-like chaperone, mitochondrial precursor", "refseq_ac": "NP_006651", "gene_names_uniprotkb": "CLPX", "gene_names_refseq": "CLPX; EPP2", "protein_names_uniprotkb": "ATP-dependent clpX-like chaperone, mitochondrial; 3.6.4.10; ATP-dependent Clp protease ATP-binding subunit clpX-like, mitochondrial; Caseinolytic mitochondrial matrix peptidase chaperone subunit X", "protein_names_refseq": "ATP-dependent Clp protease ATP-binding subunit clpX-like, mitochondrial; ATP-dependent clpX-like chaperone, mitochondrial precursor; ATP-dependent clpX-like chaperone, mitochondrial; ClpX caseinolytic peptidase X homolog; ClpX caseinolytic protease X homolog; energy-dependent regulator of proteolysis", "tax_id": 9606, "disease": "erythropoietic protoporphyria (Disease Ontology:DOID:13270); Sjogren-Larsson syndrome (Disease Ontology:DOID:14501); arteriosclerosis (Disease Ontology:DOID:2349); protoporphyria, erythropoietic, 2 (MONDO:MONDO:0060729)", "pathway": " (hsa:10845); (R-HSA-9837999)", "pathway_count": 2, "publication_count": 101, "publication_id_list": "11003706;11237011;11923310;12198491;14623864;15522782;15870080;15944288;16115876;16964243;17101804;17297443;17579211;18452278;19608861;19690332;19841671;22262461;22710082;22841477;23186163;23201127;23481700;23931759;24315374;24520911;24715725;25418920;25802875;25957689;26154972;26504172;26552660;26811146;26923599;26992070;27496948;27642048;27846572;27920218;28218747;28377575;28396416;28510447;28832583;28874591;28904123;29242379;29301859;29393594;29557506;29632046;29632711;29786170;29789417;29932645;30120231;30315122;30379171;30524438;31059136;31092671;31217245;31327635;31530632;31695197;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33257573;33298915;33465208;33912179;33936100;33968037;34087483;34171305;34211107;34357683;34509645;34561969;34704252;34943861;35051231;35870450;36629048;38665916;40596516;40914422;7623837", "class_list": "", "function": "ATP-dependent chaperone that functions as an unfoldase. As part of the ClpXP protease complex, it recognizes specific protein substrates, unfolds them using energy derived from ATP hydrolysis, and then translocates them to the proteolytic subunit (CLPP) of the ClpXP complex for degradation (PubMed:11923310, PubMed:22710082, PubMed:28874591). Thanks to its chaperone activity, it also functions in the incorporation of the pyridoxal phosphate cofactor into 5-aminolevulinate synthase, thereby activating 5-aminolevulinate (ALA) synthesis, the first step in heme biosynthesis (PubMed:28874591). This chaperone is also involved in the control of mtDNA nucleoid distribution, by regulating mitochondrial transcription factor A (TFAM) activity (PubMed:22841477)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Experiencing community and domestic violence is associated with epigenetic changes in DNA methylation of BDNF and CLPX in adolescents., [RefSeq, PubMed]; Heme-dependent recognition of 5-aminolevulinate synthase by the human mitochondrial molecular chaperone ClpX., [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]; The mutation in CLPX inactivates its ATPase activity, resulting in coassembly of mutant and WT protomers to form an enzyme with reduced activity. The presence of low-activity CLPX increases the posttranslational stability of ALAS, causing increased ALAS protein and ALA levels, leading to abnormal accumulation of PPIX., [RefSeq, PubMed]; The protein encoded by this gene is part of a protease found in mitochondria. This protease is ATP-dependent and targets specific proteins for degradation. The protease consists of two heptameric rings of the CLPP catalytic subunit sandwiched between two hexameric rings of the chaperone subunit encoded by this gene. Targeted proteins are unwound by this protein and then passed on to the CLPP subunit for degradation. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [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": 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": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 15, "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": "A1L428;A8K8F1;B9EGI8;Q9H4D9", "ec_number_list": "5.6.2.4;3.6.1.-;3.6.4.-;3.6.4.13;3.6.4.6;3.6.1.5;2.3.3.1;2.7.7.7;2.7.7.49;7.1.1.2;3.6.4.10;1.2.1.3;3.1.3.1;3.9.1.1;7.1.2.2;4.2.1.2;1.2.4.1;1.8.1.4;5.6.1.7;4.2.99.18;2.3.1.37;5.6.1.6;5.6.2.3;4.98.1.1;1.1.1.38;2.3.1.9;3.6.4.12;1.2.1.36;1.7.1.-;1.2.1.28;3.4.21.53;5.6.2.5;1.1.1.37;5.3.3.8;1.1.1.42;3.1.2.2;1.1.1.41;3.1.-.-;2.8.3.5;3.6.5.-;7.6.2.1;3.5.3.1;1.2.4.2;1.1.1.30;5.3.3.21;2.3.2.27;2.7.11.2;2.7.11.-;3.4.21.92;1.1.1.35;7.2.2.-;5.6.2.-;2.3.2.-;2.7.11.1;3.6.1.15;3.1.4.-;3.6.-.-;6.2.1.-;6.2.1.4;3.4.24.-;4.2.1.3;3.1.13.1;5.6.2.6;3.4.-.-;2.3.1.41;1.3.8.5;2.7.4.3", "go_molecular_function": "GO:0005524 ATP binding;GO:0016504 peptidase activator activity;GO:0046872 metal ion binding;GO:0051082 unfolded protein binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix;GO:0042645 mitochondrial nucleoid;GO:0009368 endopeptidase Clp complex", "go_biological_process": "GO:0006508 proteolysis;GO:0046034 ATP metabolic process;GO:0051603 proteolysis involved in protein catabolic process;GO:0006457 protein folding", "synthesized_glycan_count": 0, "hit_score": 10.5, "record_id": "O76031-1", "record_type": "protein" }, { "uniprot_canonical_ac": "I3L3R5-1", "uniprot_id": "CCER2_HUMAN", "mass": 30352.0, "length": 266, "protein_name": "Coiled-coil domain-containing glutamate-rich protein 2", "gene_name": "CCER2", "organism": "Human", "refseq_name": "coiled-coil domain-containing glutamate-rich protein 2 precursor", "refseq_ac": "NP_001230141", "gene_names_uniprotkb": "CCER2", "gene_names_refseq": "CCER2", "protein_names_uniprotkb": "Coiled-coil domain-containing glutamate-rich protein 2", "protein_names_refseq": "coiled-coil domain-containing glutamate-rich protein 2 precursor; coiled-coil domain-containing glutamate-rich protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:643669)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;23481700;27717682;31844290;33981976", "class_list": "", "function": "The present study identified CCER2 as a novel susceptibility gene for MMD. CCER2 shows a brain-specific expression pattern, and its product has the structure of secreted 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": 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:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "I3L3R5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99616-1", "uniprot_id": "CCL13_HUMAN", "mass": 10986.0, "length": 98, "protein_name": "C-C motif chemokine 13", "gene_name": "CCL13", "organism": "Human", "refseq_name": "C-C motif chemokine 13 precursor", "refseq_ac": "NP_005399", "gene_names_uniprotkb": "CCL13; MCP4; NCC1; SCYA13", "gene_names_refseq": "CCL13; CKb10; MCP-4; NCC-1; NCC1; SCYA13; SCYL1", "protein_names_uniprotkb": "C-C motif chemokine 13; CK-beta-10; MCP-4; Monocyte chemoattractant protein 4; Monocyte chemotactic protein 4; NCC-1; Small-inducible cytokine A13", "protein_names_refseq": "C-C motif chemokine 13 precursor; C-C motif chemokine 13; CK-beta-10; chemokine (C-C motif) ligand 13; monocyte chemoattractant protein 4; monocyte chemotactic protein 4; new CC chemokine 1; small inducible cytokine subfamily A (Cys-Cys), member 13; small-inducible cytokine A13", "tax_id": 9606, "disease": "pleurisy (Disease Ontology:DOID:10247); allergic conjunctivitis (Disease Ontology:DOID:11204); prostatitis (Disease Ontology:DOID:14654); multiple sclerosis (Disease Ontology:DOID:2377); asthma (Disease Ontology:DOID:2841); endometriosis (Disease Ontology:DOID:289); allergic rhinitis (Disease Ontology:DOID:4481); rhinitis (Disease Ontology:DOID:4483); pneumonia (Disease Ontology:DOID:552); cataract (Disease Ontology:DOID:83); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:6357); (R-HSA-380108); (R-HSA-418594)", "pathway_count": 3, "publication_count": 68, "publication_id_list": "10049733;10229797;10640743;10706668;10725696;10725697;10781587;11007482;11060282;11237011;12120503;12149255;12554737;12884299;12949249;15067078;15951850;16107333;16634148;16923326;1744577;18323622;1840701;18434541;18577758;1891716;20002784;2078213;2217207;2423119;2534964;2748346;28005267;28170001;2834384;29557506;2970963;3098319;3260265;32983136;37153575;37200921;7602097;7622448;7642634;7679328;7851893;7875320;7937899;8015379;8048929;8383238;8406495;8639485;8642349;8849694;8955214;9024663;9060459;9164944;9166430;9169459;9195948;9207005;9276730;9390561;9463416;9618518", "class_list": "", "function": "CCL13 and human diseases. Review article Publication Status: Online-Only, [RefSeq, PubMed]; CCL13 expression is significantly upregulated in human masticatory mucosa during wound healing, [RefSeq, PubMed]; CCL13 is an antimicrobial protein with bacteriocidal activity against E. coli., [RefSeq, PubMed]; Chemotactic factor that attracts monocytes, lymphocytes, basophils and eosinophils, but not neutrophils. Signals through CCR2B and CCR3 receptors. Plays a role in the accumulation of leukocytes at both sides of allergic and non-allergic inflammation. May be involved in the recruitment of monocytes into the arterial wall during the disease process of atherosclerosis. May play a role in the monocyte attraction in tissues chronically exposed to exogenous pathogens., [UniProtKB]; In plasma, but not CSF, the bivariate MCP4 (CCL13)/ MCP1(CCL2) ratio is ca. twofold elevated in PTSD patients compared with healthy controls. Publication Status: Online-Only, [RefSeq, PubMed]; MCP-4 and Eotaxin-3 Are Novel Biomarkers for Chronic Obstructive Pulmonary Disease. Publication Status: Online-Only, [RefSeq, PubMed]; This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for monocytes, lymphocytes, basophils and eosinophils, but not neutrophils. This chemokine plays a role in accumulation of leukocytes during inflammation. It may also be involved in the recruitment of monocytes into the arterial wall during artherosclerosis. [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": 0, "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": "O95689;Q6ICQ6", "ec_number_list": "", "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0008009 chemokine activity;GO:0048020 CCR chemokine receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0006935 chemotaxis;GO:0006954 inflammatory response;GO:0007165 signal transduction;GO:0007267 cell-cell signaling;GO:0030335 positive regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q99616-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P78357-1", "uniprot_id": "CNTP1_HUMAN", "mass": 156267.0, "length": 1384, "protein_name": "Contactin-associated protein 1", "gene_name": "CNTNAP1", "organism": "Human", "refseq_name": "contactin-associated protein 1 precursor", "refseq_ac": "NP_003623", "gene_names_uniprotkb": "CNTNAP1; CASPR; NRXN4", "gene_names_refseq": "CASPR; CHN3; CNTNAP1; CNTNAP; NRXN4; P190", "protein_names_uniprotkb": "Contactin-associated protein 1; Caspr1; Caspr; Neurexin IV; Neurexin-4; p190", "protein_names_refseq": "caspr1; contactin-associated protein 1 precursor; neurexin IV; neurexin-4", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); autosomal recessive intellectual developmental disorder (Disease Ontology:DOID:0060308); lethal congenital contracture syndrome (Disease Ontology:DOID:0060558); lethal congenital contracture syndrome 7 (Disease Ontology:DOID:0061263); congenital hypomyelinating neuropathy 3 (Disease Ontology:DOID:0070680)", "pathway": " (hsa:8506); (R-HSA-447043)", "pathway_count": 2, "publication_count": 66, "publication_id_list": "10.1101/2023.09.13.557529;11152476;11237011;23481700;24190977;24319099;24714562;24715725;25505266;25576301;25892735;26154972;26728094;27668699;27782105;27818385;27920218;28063628;28228285;28254648;28374019;28446606;28514659;28832583;29242379;29508533;29511323;29557506;29632046;29632711;29769354;29786170;30315122;30429286;30792309;31217245;31530632;31844290;31848261;32157095;32161166;32502341;32938616;33141586;33148880;33592498;33717175;33968037;34019948;34211107;34561969;34932366;35023290;35051231;35182943;35289036;36010968;36284347;36581221;37074911;37862170;38665916;8922386;9118959;9371782;9804856", "class_list": "", "function": "CNTNAP1-encephalopathy: Six novel patients surviving the neonatal period., [RefSeq, PubMed]; M2-polarization-related CNTNAP1 gene might be a novel immunotherapeutic target and biomarker for clear cell renal cell carcinoma., [RefSeq, PubMed]; Mouse models of human CNTNAP1-associated congenital hypomyelinating neuropathy and genetic restoration of murine neurological deficits., [RefSeq, PubMed]; Mutations of CNTNAP1 led to defects in neuronal development. Publication Status: Online-Only, [RefSeq, PubMed]; Required, with CNTNAP2, for radial and longitudinal organization of myelinated axons. Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Demarcates the paranodal region of the axo-glial junction. In association with contactin involved in the signaling between axons and myelinating glial cells., [UniProtKB, PubMed, PubMed, PubMed]; The gene product was initially identified as a 190-kD protein associated with the contactin-PTPRZ1 complex. The 1,384-amino acid protein, also designated p190 or CASPR for 'contactin-associated protein,' includes an extracellular domain with several putative protein-protein interaction domains, a putative transmembrane domain, and a 74-amino acid cytoplasmic domain. Northern blot analysis showed that the gene is transcribed predominantly in brain as a transcript of 6.2 kb, with weak expression in several other tissues tested. The architecture of its extracellular domain is similar to that of neurexins, and this protein may be the signaling subunit of contactin, enabling recruitment and activation of intracellular signaling pathways in neurons. [provided by RefSeq, Jan 2009]., [RefSeq]; These results demonstrate that CASPR1 binds with ATP1B3 and thereby contributes to the regulation of Na(+)/K(+)-ATPase maturation and trafficking to the plasma membrane in brain microvascular endothelial cells., [RefSeq, PubMed]", "predicted_glycosites": 7, "predicted_n_glycosites": 4, "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": 13, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 12, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 13, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 13, "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": 61, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 14, "disease_count": 5, "glyco_site_count": 21, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0017124 SH3 domain binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0045202 synapse;GO:0033010 paranodal junction;GO:0033270 paranode region of axon", "go_biological_process": "GO:0007155 cell adhesion;GO:0007165 signal transduction;GO:0007399 nervous system development;GO:0007409 axonogenesis;GO:0022010 central nervous system myelination", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "P78357-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O00585-1", "uniprot_id": "CCL21_HUMAN", "mass": 14646.0, "length": 134, "protein_name": "C-C motif chemokine 21", "gene_name": "CCL21", "organism": "Human", "refseq_name": "C-C motif chemokine 21 precursor", "refseq_ac": "NP_002980", "gene_names_uniprotkb": "CCL21; PRO1600; SCYA21", "gene_names_refseq": "6Ckine; CCL21; CKb9; ECL; SCYA21; SLC; TCA4", "protein_names_uniprotkb": "C-C motif chemokine 21; 6Ckine; Beta-chemokine exodus-2; SLC; Secondary lymphoid-tissue chemokine; Small-inducible cytokine A21", "protein_names_refseq": "C-C motif chemokine 21 precursor; C-C motif chemokine 21; Efficient Chemoattractant for Lymphocytes; beta chemokine exodus-2; chemokine (C-C motif) ligand 21; secondary lymphoid tissue chemokine; small inducible cytokine subfamily A (Cys-Cys), member 21", "tax_id": 9606, "disease": "pulmonary fibrosis (Disease Ontology:DOID:3770)", "pathway": " (hsa:6366); (R-HSA-380108); (R-HSA-418594)", "pathway_count": 3, "publication_count": 81, "publication_id_list": "10201891;10229797;10640743;10706668;10725696;10725697;10781587;11007482;11060282;11237011;12120503;12149255;12554737;12884299;12949249;12975309;14978162;15067078;15951850;16107333;16634148;16923326;1744577;1840701;18434541;18577758;1891716;20002784;2078213;2217207;22221265;23341447;23719902;23783831;2423119;2534964;27044744;2748346;2834384;29557506;29632711;2970963;3098319;31154438;32157095;3260265;32983136;33091337;35051231;36675182;36723865;37314567;37377898;38553809;7602097;7622448;7642634;7679328;7851893;7875320;7937899;8015379;8048929;8383238;8406495;8639485;8849694;9024663;9164944;9166430;9169459;9207005;9235955;9257816;9276730;9300671;9390561;9419363;9463416;9507024;9618518", "class_list": "", "function": "Binds to atypical chemokine receptor ACKR4 and mediates the recruitment of beta-arrestin (ARRB1/2) to ACKR4 (PubMed:23341447). Binds to chemokine receptor CCR7 (PubMed:9507024). Does not bind to chemokine receptor CXCR3 (PubMed:10201891). Binds to G protein-coupled receptor GPR174 (By similarity). Inhibits hemopoiesis and stimulates chemotaxis. Chemotactic in vitro for thymocytes and activated T-cells, but not for B-cells, macrophages, or neutrophils. Shows preferential activity towards naive T-cells. May play a role in mediating homing of lymphocytes to secondary lymphoid organs., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; CCL19 (rs3136658) and CCL21 (rs2812377) Variants Are Associated With Susceptibility and Related Mortality of SARS-CoV-2 Infection., [RefSeq, PubMed]; CCL21 and CLDN11 Are Key Driving Factors of Lymph Node Metastasis in Gastric Cancer., [RefSeq, PubMed]; CCL21 is an antimicrobial protein with bacteriocidal activity against E. coli and S. aureus., [RefSeq, PubMed]; CCL21-CCR7 signaling promotes microglia/macrophage recruitment and chemotherapy resistance in glioblastoma. Publication Status: Online-Only, [RefSeq, PubMed]; Chemokine Analysis in Patients with Metastatic Uveal Melanoma Suggests a Role for CCL21 Signaling in Combined Epigenetic Therapy and Checkpoint Immunotherapy. Publication Status: Online-Only, [RefSeq, PubMed]; Heparin Specifically Interacts with Basic BBXB Motifs of the Chemokine CCL21 to Define CCR7 Signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Inhibits hemopoiesis and stimulates chemotaxis. Chemotactic in vitro for thymocytes and activated T-cells, but not for B-cells, macrophages, or neutrophils. Shows preferential activity towards naive T-cells. May play a role in mediating homing of lymphocytes to secondary lymphoid organs. Binds to atypical chemokine receptor ACKR4 and mediates the recruitment of beta-arrestin (ARRB1/2) to ACKR4., [UniProtKB, UniProtKB]; This antimicrobial gene is one of several CC cytokine genes clustered on the p-arm of chromosome 9. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. Similar to other chemokines the protein encoded by this gene inhibits hemopoiesis and stimulates chemotaxis. This protein is chemotactic in vitro for thymocytes and activated T cells, but not for B cells, macrophages, or neutrophils. The cytokine encoded by this gene may also play a role in mediating homing of lymphocytes to secondary lymphoid organs. It is a high affinity functional ligand for chemokine receptor 7 that is expressed on T and B lymphocytes and a known receptor for another member of the cytokine family (small inducible cytokine A19). [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": 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": "Q6ICR7", "ec_number_list": "", "go_molecular_function": "GO:0008009 chemokine activity;GO:0042379 chemokine receptor binding;GO:0048020 CCR chemokine receptor binding;GO:0031732 CCR7 chemokine receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:1990869 cellular response to chemokine;GO:2000669 negative regulation of dendritic cell apoptotic process;GO:0006954 inflammatory response;GO:0006955 immune response;GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "O00585-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P01031-1", "uniprot_id": "CO5_HUMAN", "mass": 188305.0, "length": 1676, "protein_name": "Complement C5", "gene_name": "C5", "organism": "Human", "refseq_name": "complement C5 isoform 2", "refseq_ac": "NP_001304092", "gene_names_uniprotkb": "C5; CPAMD4", "gene_names_refseq": "C5D; C5a; C5b; C5; CPAMD4; ECLZB", "protein_names_uniprotkb": "Complement C5; C3 and PZP-like alpha-2-macroglobulin domain-containing protein 4; Complement C5 alpha' chain", "protein_names_refseq": "C3 and PZP-like alpha-2-macroglobulin domain-containing protein 4; C5a anaphylatoxin; anaphylatoxin C5a analog; complement C5 isoform 2; complement component 5; prepro-C5", "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); obsolete eculizumab, poor response to (MONDO:MONDO:0014330)", "pathway": " (hsa:727); (R-HSA-166665); (R-HSA-174577); (R-HSA-375276); (R-HSA-418594); (R-HSA-977606)", "pathway_count": 6, "publication_count": 253, "publication_id_list": "10079109;10100623;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10531307;10604470;1067618;106884;10854085;10899166;11007482;11237011;11322507;11385580;11457843;11562423;11683476;11694537;11773063;11939578;12055245;12120503;12427552;12540846;12719537;1280419;12878586;12956774;1314587;1317848;1325670;1337145;1346068;1386357;14463577;14550283;14573733;15139756;15199963;15488949;15539556;15598652;1567413;15778377;15947423;15951850;15995705;16079145;16192651;16335952;1655761;16634148;16923326;16999828;1710450;1710578;17182573;1719979;1722333;17505110;17975675;17989688;18127230;18204047;18434541;1847994;18536718;18577758;1984448;1996961;20133685;21081667;21217642;21788512;22028381;22500023;22802338;22832194;23090970;23446738;23487775;23690594;2420889;24521109;2465906;2466593;2481448;24906252;2534964;2579066;2649896;26841837;27018802;27052168;2730871;27452731;2748346;27496565;27726376;2784981;28228285;2834384;28514659;28832583;29242379;293688;293746;29391424;29423024;29557506;2956252;29632711;29649283;29671580;2971659;29789417;301546;30429286;3052276;30552328;30643019;30833945;31061395;31092671;31217245;31844290;31871188;3202875;32065623;32157095;32357974;32387766;32569291;32938616;32983136;33091337;33123364;33392160;33592498;3365401;3366244;33912179;3408713;34087483;34171305;342601;34357683;34667172;35051231;3525564;35494241;35561310;35580925;36010968;36127336;36797260;36806352;37074911;37169960;37471146;37852260;38117213;3848661;3856870;38665916;38795684;39195219;39814882;39914456;4098172;5765461;6177822;6214588;6219696;6222381;6230668;6238120;624565;6274691;6281660;6334079;6373251;6454142;6554279;6589611;6607952;670886;690134;6906228;702059;7057924;7391570;7524088;7542572;7590751;7592910;7592911;760802;761607;7624359;7690834;7691959;7730648;7797512;7905839;7937899;8015379;8035319;8062389;8063797;8182049;8185599;8201839;8248172;8294032;8345200;8373420;8381365;8383682;8395824;8406495;8440682;8463333;8495193;8503909;8615752;8666380;8702752;873923;8786315;8823230;9007977;9038722;9171878;9171898;9188742;9247584;9521323;9530155;9553099;9593744;9607765;9685625;9722565;978134;9792798;9832121;9851594", "class_list": "", "function": "Association between TRAF1/C5 Gene Polymorphisms and IgA Vasculitis in Chinese Children., [RefSeq, PubMed]; Complement Component C5a and Fungal Pathogen Induce Diverse Responses through Crosstalk between Transient Receptor Potential Channel (TRPs) Subtypes in Human Conjunctival Epithelial Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Complement decay-accelerating factor inhibits inflammation-induced myopia development., [RefSeq, PubMed]; 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 (PubMed:26841837, PubMed:27052168, PubMed:30552328, PubMed:30643019). Complement C5b is generated following cleavage by C5 convertase and initiates formation of the MAC complex: C5b binds sequentially C6, C7, C8 and multiple copies of the pore-forming subunit C9 (PubMed:30552328, PubMed:30643019). During MAC complex assembly, the C5b6 subcomplex, composed of complement C5b and C6, associates with the outer leaflet of target cell membrane, reducing the energy for membrane bending (PubMed:30552328, PubMed:32569291)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Mediator of local inflammatory process released following cleavage by C5 convertase (PubMed:8182049, PubMed:9553099). Acts by binding to its receptor (C5AR1 or C5AR2), activating G protein-coupled receptor signaling and inducing a variety of responses including intracellular calcium release, contraction of smooth muscle, increased vascular permeability, and histamine release from mast cells and basophilic leukocytes (PubMed:36806352, PubMed:37852260, PubMed:37169960, PubMed:8182049, PubMed:9553099). C5a is also a potent chemokine which stimulates the locomotion of polymorphonuclear leukocytes and directs their migration toward sites of inflammation (PubMed:342601, PubMed:37852260, PubMed:37169960, PubMed:5765461, PubMed:8182049, PubMed:9553099)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Mediator of local inflammatory process released following cleavage by C5 convertase. Acts by binding to its receptor (C5AR1 or C5AR2), activating G protein-coupled receptor signaling and inducing a variety of responses including intracellular calcium release, contraction of smooth muscle, increased vascular permeability, and histamine release from mast cells and basophilic leukocytes. C5a is also a potent chemokine which stimulates the locomotion of polymorphonuclear leukocytes and directs their migration toward sites of inflammation., [UniProtKB, UniProtKB]; Precursor of the C5a anaphylatoxin and complement C5b components of the complement pathways, which consist in a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive immune system (PubMed:12878586, PubMed:18204047, PubMed:30643019, PubMed:6554279). Activated downstream of classical, alternative, lectin and GZMK complement pathways (PubMed:12878586, PubMed:18204047, PubMed:30643019, PubMed:39914456, PubMed:39814882, PubMed:6554279)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; This gene encodes a component of the complement system, a part of the innate immune system that plays an important role in inflammation, host homeostasis, and host defense against pathogens. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the C5 alpha chain, C5 beta chain, C5a anaphylatoxin and C5b. The C5 protein is comprised of the C5 alpha and beta chains, which are linked by a disulfide bridge. Cleavage of the alpha chain by a convertase enzyme results in the formation of the C5a anaphylatoxin, which possesses potent spasmogenic and chemotactic activity, and the C5b macromolecular cleavage product, a subunit of the membrane attack complex (MAC). Mutations in this gene cause complement component 5 deficiency, a disease characterized by recurrent bacterial infections. Alternative splicing results in multiple transcript variants. [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": 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": 2, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 49, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 29, "disease_count": 13, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q14CJ0;Q27I61", "ec_number_list": "", "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0004866 endopeptidase inhibitor activity;GO:0008009 chemokine activity;GO:0001664 G protein-coupled receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0070062 extracellular exosome;GO:0005579 membrane attack complex;GO:0044218 other organism cell membrane", "go_biological_process": "GO:0006935 chemotaxis;GO:0006954 inflammatory response;GO:0007166 cell surface receptor signaling pathway;GO:0007186 G protein-coupled receptor signaling pathway;GO:0010575 positive regulation of vascular endothelial growth factor production", "synthesized_glycan_count": 0, "hit_score": 28.8, "record_id": "P01031-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P02748-1", "uniprot_id": "CO9_HUMAN", "mass": 63173.0, "length": 559, "protein_name": "Complement component C9", "gene_name": "C9", "organism": "Human", "refseq_name": "complement component C9 preproprotein", "refseq_ac": "NP_001728", "gene_names_uniprotkb": "C9", "gene_names_refseq": "ARMD15; C9D; C9", "protein_names_uniprotkb": "Complement component C9", "protein_names_refseq": "complement component 9; complement component C9 preproprotein; complement component C9", "tax_id": 9606, "disease": "complement component 9 deficiency (Disease Ontology:DOID:0060303); polycystic kidney disease (Disease Ontology:DOID:0080322); age related macular degeneration 15 (Disease Ontology:DOID:0110027); opiate dependence (Disease Ontology:DOID:2559); autosomal dominant polycystic kidney disease (Disease Ontology:DOID:898)", "pathway": " (hsa:735); (R-HSA-166665); (R-HSA-977606)", "pathway_count": 3, "publication_count": 102, "publication_id_list": "10408378;10531307;10551839;1067618;11237011;11694537;11939578;12055245;1386357;14760718;16079145;16192651;16263699;16335952;16999828;17182573;17505110;19139490;19159218;19824718;20068231;21788512;22802338;22832194;23090970;23487775;2395434;24036952;2420889;2465906;2466593;2481448;26841837;26841934;27052168;27726376;293688;293746;29391424;29557506;2956252;29632711;29671580;2971659;29741879;29786170;29789417;30111885;301546;30444036;30459171;3052276;30552328;31061395;31844290;32157095;3219351;32938616;34667172;34752492;35051231;35580925;36284347;36376872;36639734;36797260;37074911;37471146;3848661;39814882;39914456;4018030;4055801;4098172;6095282;6177822;6214588;6219696;6222381;6230668;6238120;6334079;6454142;6607952;670886;6906228;702059;7391570;7542572;760802;761607;7690834;7691959;8315383;8345200;8495193;8603752;8786315;9038722;9212048;9634479;978134", "class_list": "", "function": "Hepatitis B virus suppresses complement C9 synthesis by limiting the availability of transcription factor USF-1 and inhibits formation of membrane attack complex: implications in disease pathogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Pore-forming 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. Constitutes the pore-forming subunit of the MAC complex: during MAC assembly, C9 associates with the C5b8 intermediate complex, and polymerizes to complete the pore., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes the final component of the complement system. It participates in the formation of the Membrane Attack Complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause component C9 deficiency. [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": 4, "reported_o_glycosites": 1, "reported_c_glycosites": 2, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 2, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 2, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 6, "total_c_glycosites": 2, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 2, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 46, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 56, "disease_count": 5, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "", "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:0072562 blood microparticle", "go_biological_process": "GO:0051260 protein homooligomerization;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": 17.1, "record_id": "P02748-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P06307-1", "uniprot_id": "CCKN_HUMAN", "mass": 12669.0, "length": 115, "protein_name": "Cholecystokinin", "gene_name": "CCK", "organism": "Human", "refseq_name": "cholecystokinin preproprotein", "refseq_ac": "NP_000720", "gene_names_uniprotkb": "CCK", "gene_names_refseq": "CCK", "protein_names_uniprotkb": "Cholecystokinin; (1-49)-CCK58; CCK", "protein_names_refseq": "cholecystokinin preproprotein; cholecystokinin triacontatriapeptide; prepro-cholecystokinin", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); nicotine dependence (Disease Ontology:DOID:0050742); morbid obesity (Disease Ontology:DOID:11981); Parkinson's disease (Disease Ontology:DOID:14330); acute pancreatitis (Disease Ontology:DOID:2913); alcoholic pancreatitis (Disease Ontology:DOID:4988); cataract (Disease Ontology:DOID:83)", "pathway": " (hsa:885); (R-HSA-375276); (R-HSA-416476)", "pathway_count": 3, "publication_count": 130, "publication_id_list": "10079109;10100623;10191087;10336644;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10567430;10604470;10727532;10854085;10861009;10899166;11015615;11076522;11322507;11385580;11457843;11562423;11683476;11742120;11753430;11773063;12120503;12427552;12540846;12719537;1280419;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;15139756;15539556;1567413;15947423;15951850;16182515;16268778;16339447;1655761;16754659;16923326;1710450;1710578;1719979;1722333;18127230;18434541;1847994;18515384;18577758;18936096;1905813;23446738;23690594;24906252;25326458;2649896;27496565;2841328;29557506;3086311;31154438;3202875;3366244;34932366;3525564;35830620;36495169;37258205;37453717;37931511;38047304;3856870;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7797512;7905839;7937899;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8440682;8463333;8503909;8615752;8664309;8666380;8702752;873923;8823230;9171878;9305846;9371719;9521323;9530155;9593744;9607765;9685625;9722565;9770463;9792798;9832121;9851594", "class_list": "", "function": "Anatomical basis of gastrin- and CCK-secreting cells and their functions. A review. Review article, [RefSeq, PubMed]; CCK regulates osteogenic differentiation through TNFalpha/NF-kappaB in peri-implantitis., [RefSeq, PubMed]; Elevated Fasting Satiety-Promoting Cholecystokinin (CCK) in Avoidant/Restrictive Food Intake Disorder Compared to Healthy Controls. Publication Status: Online-Only, [RefSeq, PubMed]; Substance P, NPY, CCK and their receptors in five brain regions in major depressive disorder with transcriptomic analysis of locus coeruleus neurons., [RefSeq, PubMed]; TRPV1 enhances cholecystokinin signaling in primary vagal afferent neurons and mediates the central effects on spontaneous glutamate release in the NTS., [RefSeq, PubMed]; This gene encodes a member of the gastrin/cholecystokinin family of proteins. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the peptide hormones cholecystokinin-8, -12, -33, and others. The encoded peptides have been shown to regulate gastric acid secretion and food intake. A sulfated form of cholecystokinin-8 may modulate neuronal activity in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]., [RefSeq]; This peptide hormone induces gall bladder contraction and the release of pancreatic enzymes in the gut. Its function in the brain is not clear. Binding to CCK-A receptors stimulates amylase release from the pancreas, binding to CCK-B receptors stimulates gastric acid secretion., [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": 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": 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": 1, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 7, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0005184 neuropeptide hormone activity;GO:0005179 hormone activity;GO:0051428 peptide hormone receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0030424 axon", "go_biological_process": "GO:0007165 signal transduction;GO:0007409 axonogenesis;GO:0001764 neuron migration;GO:0042755 eating behavior;GO:0007586 digestion", "synthesized_glycan_count": 0, "hit_score": 13.2, "record_id": "P06307-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P07357-1", "uniprot_id": "CO8A_HUMAN", "mass": 65163.0, "length": 584, "protein_name": "Complement component C8 alpha chain", "gene_name": "C8A", "organism": "Human", "refseq_name": "complement component C8 alpha chain preproprotein", "refseq_ac": "NP_000553", "gene_names_uniprotkb": "C8A", "gene_names_refseq": "C8A", "protein_names_uniprotkb": "Complement component C8 alpha chain; Complement component 8 subunit alpha", "protein_names_refseq": "complement component 8 alpha subunit; complement component 8 subunit alpha; complement component 8, alpha polypeptide; complement component C8 alpha chain preproprotein; complement component C8 alpha chain", "tax_id": 9606, "disease": "type I complement component 8 deficiency (Disease Ontology:DOID:0060301); myocardial infarction (Disease Ontology:DOID:5844)", "pathway": " (hsa:731); (R-HSA-166665); (R-HSA-977606)", "pathway_count": 3, "publication_count": 86, "publication_id_list": "10531307;10551839;1067618;11237011;11694537;11939578;12055245;1386357;16079145;16192651;16335952;16999828;17182573;17505110;17692377;17872444;18440555;19159218;19664994;21454577;21788512;22802338;22832194;23090970;23487775;2420889;2465906;2466593;24715725;2481448;26841837;27052168;2820471;293688;293746;29557506;2956252;29671580;2971659;29741879;301546;3052276;30552328;31061395;32157095;32769119;32983136;33392160;34667172;35051231;35580925;36797260;37074911;37217939;3848661;39814882;39914456;4098172;6177822;6214588;6219696;6222381;6230668;6238120;6334079;6454142;6607952;670886;6833260;6906228;702059;7391570;7440581;7542572;760802;761607;7649542;7690834;7691959;7759071;8345200;8495193;8786315;9038722;9759902;978134", "class_list": "", "function": "A Point Mutation Creating a 3' Splice Site in C8A Is a Predominant Cause of C8alpha-gamma Deficiency in African Americans., [RefSeq, PubMed]; C8 is a component of the complement system and contains three polypeptides, alpha, beta and gamma. This gene encodes the alpha subunit of C8. C8 participates in the formation of the membrane attack complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause complement C8 alpha-gamma deficiency. [provided by RefSeq, Nov 2008]., [RefSeq]; 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 (PubMed:17872444, PubMed:22832194, PubMed:26841837, PubMed:27052168, PubMed:30552328, PubMed:7440581). The MAC is initiated by proteolytic cleavage of C5 into complement C5b in response to the classical, alternative, lectin and GZMK complement pathways (PubMed:17872444, PubMed:30552328, PubMed:39914456, PubMed:39814882, PubMed:7440581). 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 (PubMed:17872444, PubMed:30552328, PubMed:7440581). C8A, together with C8B and C8G, inserts into the target membrane, but does not form pores by itself (PubMed:17872444, PubMed:30552328). 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 (PubMed:30552328, PubMed:6833260)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, 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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 4, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 4, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 4, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 4, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 36, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 18, "disease_count": 2, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A2RUI4;A2RUI5;Q13668;Q9H130", "ec_number_list": "", "go_molecular_function": "GO:0044877 protein-containing complex binding;GO:0001848 complement 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": 11.2, "record_id": "P07357-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P10147-1", "uniprot_id": "CCL3_HUMAN", "mass": 10085.0, "length": 92, "protein_name": "C-C motif chemokine 3", "gene_name": "CCL3", "organism": "Human", "refseq_name": "C-C motif chemokine 3 precursor", "refseq_ac": "NP_002974", "gene_names_uniprotkb": "CCL3; G0S19-1; MIP1A; SCYA3", "gene_names_refseq": "CCL3; G0S19-1; LD78ALPHA; LD78; MIP-1-alpha; MIP1A; SCI; SCYA3", "protein_names_uniprotkb": "C-C motif chemokine 3; G0/G1 switch regulatory protein 19-1; LD78-alpha(4-69); MIP-1-alpha; Macrophage inflammatory protein 1-alpha; PAT 464.1; SIS-beta; Small-inducible cytokine A3; Tonsillar lymphocyte LD78 alpha protein", "protein_names_refseq": "C-C motif chemokine 3 precursor; G0/G1 switch regulatory protein 19-1; PAT 464.1; SIS-beta; macrophage inflammatory protein 1-alpha; small inducible cytokine A3 (homologous to mouse Mip-1a); tonsillar lymphocyte LD78 alpha protein", "tax_id": 9606, "disease": "renal fibrosis (Disease Ontology:DOID:0050855); COVID-19 (Disease Ontology:DOID:0080600); nephritis (Disease Ontology:DOID:10952); Chagas disease (Disease Ontology:DOID:12140); alcoholic hepatitis (Disease Ontology:DOID:12351); focal segmental glomerulosclerosis (Disease Ontology:DOID:1312); crescentic glomerulonephritis (Disease Ontology:DOID:13139); anterior uveitis (Disease Ontology:DOID:1407); status epilepticus (Disease Ontology:DOID:1824); colon cancer (Disease Ontology:DOID:219); acute kidney failure (Disease Ontology:DOID:3021); systemic scleroderma (Disease Ontology:DOID:418); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); end stage renal disease (Disease Ontology:DOID:783)", "pathway": " (hsa:6348); (R-HSA-380108); (R-HSA-6783783); (R-HSA-9942503)", "pathway_count": 4, "publication_count": 129, "publication_id_list": "10092818;10229797;10347159;10415057;10433356;10640743;10706668;10725696;10725697;10781587;11060282;12070155;12149255;12401480;12554737;12554859;12626585;12832402;12884299;1460289;15067078;15905581;15919823;16107333;1694014;16982608;1744577;1840701;1891716;1940369;1940799;20002784;20041127;20145033;2078213;21850230;2217207;2271120;2423119;24743777;2521882;25502872;26154972;28228285;28514659;28832583;29242379;29508533;29557506;2970963;29789417;3086300;3098319;31217245;31844290;31986264;32157095;32162841;32222466;32350084;3260265;32983136;33043033;33630763;33936100;34531288;35051231;35154160;38437646;38485250;38797155;38816384;7510216;7512027;7512451;7516408;7537510;7543512;7593617;7594602;7602097;7622448;7642634;7679328;7684412;7687627;7851893;7875320;7902377;8048929;8063757;8102388;8120391;8163946;8186324;8245442;8301137;8383238;8525373;8537680;8541527;8639485;8662928;8734788;8742066;8849694;8871669;8897595;8910398;8921438;8946277;9013939;9024663;9092555;9164944;9166430;9169459;9207005;9276730;9312047;9354687;9390561;9449724;9463416;9550426;9618518;9794440;9836587;9918218", "class_list": "", "function": "Chronic Stress Exacerbates the Immunosuppressive Microenvironment and Progression of Gliomas by Reducing Secretion of CCL3., [RefSeq, PubMed]; KAT7 serves as an oncogenic gene and regulates CCL3 expression via STAT1 signaling in osteosarcoma., [RefSeq, PubMed]; Lumbar instability remodels cartilage endplate to induce intervertebral disc degeneration by recruiting osteoclasts via Hippo-CCL3 signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Monokine with inflammatory and chemokinetic properties. Binds to CCR1, CCR4 and CCR5. One of the major HIV-suppressive factors produced by CD8+ T-cells. Recombinant MIP-1-alpha induces a dose-dependent inhibition of different strains of HIV-1, HIV-2, and simian immunodeficiency virus (SIV)., [UniProtKB, PubMed, PubMed]; This locus represents a small inducible cytokine. The encoded protein, also known as macrophage inflammatory protein 1 alpha, plays a role in inflammatory responses through binding to the receptors CCR1, CCR4 and CCR5. Polymorphisms at this locus may be associated with both resistance and susceptibility to infection by human immunodeficiency virus type 1.[provided by RefSeq, Sep 2010]., [RefSeq]; Utility of peripheral protein biomarkers for the prediction of incident interstitial features: a multicentre retrospective cohort study. 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": 5, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "monitoring", "glycan_count": 0, "disease_count": 14, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0004672 protein kinase activity;GO:0042056 chemoattractant activity;GO:0042802 identical protein binding;GO:0016301 kinase activity;GO:0016004 phospholipase activator activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:1904141 positive regulation of microglial cell migration;GO:0006935 chemotaxis;GO:0006954 inflammatory response;GO:0007267 cell-cell signaling;GO:0010628 positive regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 13.0, "record_id": "P10147-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P20849-1", "uniprot_id": "CO9A1_HUMAN", "mass": 91869.0, "length": 921, "protein_name": "Collagen alpha-1(IX) chain", "gene_name": "COL9A1", "organism": "Human", "refseq_name": "collagen alpha-1(IX) chain isoform 1 precursor", "refseq_ac": "NP_001842", "gene_names_uniprotkb": "COL9A1", "gene_names_refseq": "COL9A1; DJ149L1.1.2; EDM6; MED; STL4", "protein_names_uniprotkb": "Collagen alpha-1(IX) chain", "protein_names_refseq": "alpha-1(IX) collagen chain; cartilage-specific short collagen; collagen IX, alpha-1 polypeptide; collagen alpha-1(IX) chain isoform 1 precursor; collagen alpha-1(IX) chain; collagen, type IX, alpha 1", "tax_id": 9606, "disease": "multiple epiphyseal dysplasia 6 (Disease Ontology:DOID:0070301); Stickler syndrome (Disease Ontology:DOID:0080046); dilated cardiomyopathy (Disease Ontology:DOID:12930); osteochondrodysplasia (Disease Ontology:DOID:2256); osteoarthritis (Disease Ontology:DOID:8398); Stickler syndrome, type 4 (MONDO:MONDO:0013590)", "pathway": " (hsa:1297); (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": 234, "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;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;15047691;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;1690886;16909383;16933105;1704217;17088321;171650;17339034;17367763;17553797;17588949;17604334;17943726;17968485;18059411;18487197;18559524;18622425;18710925;18775695;19075007;19502598;19564526;19693541;20033473;2005102;2010551;20470363;2059554;20705068;20813817;21251937;21376233;21421862;21593211;21642437;2169335;21789315;21878990;21935455;21967573;2209617;22134916;22241472;22382088;2253219;22539938;22884367;22933705;2307289;23374253;23583652;2364322;2412224;2420006;2430969;2465149;25328409;2537292;2543975;2548603;2551898;25597754;2809592;2834383;28435517;2845110;29093181;29137923;29263244;29408302;29557506;29964125;3038863;30389923;31085175;31090205;31732751;3173483;3223920;33372835;35051231;36010968;38253038;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;8660302;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": "", "function": "Gene Environment Interactions Between the COL9A1 Gene and Maternal Drinking of Alcohol Contribute to the Risk of Congenital Talipes Equinovarus., [RefSeq, PubMed]; Relationship of COL9A1 and SOX9 Genes with Genetic Susceptibility of Postmenopausal Osteoporosis., [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, which is a minor (5-20%) collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack of type IX collagen is associated with early onset osteoarthritis. Mutations in this gene are associated with osteoarthritis in humans, with multiple epiphyseal dysplasia, 6, a form of chondrodysplasia, and with Stickler syndrome, a disease characterized by ophthalmic, orofacial, articular, and auditory defects. Two transcript variants that encode 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": 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": 6, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q13699;Q13700;Q5TF52;Q6P467;Q96BM8;Q99225;Q9H151;Q9H152;Q9Y6P2;Q9Y6P3", "ec_number_list": "", "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0046872 metal ion binding;GO:0030246 carbohydrate 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:0005594 collagen type IX trimer", "go_biological_process": "GO:0030198 extracellular matrix organization;GO:0009887 animal organ morphogenesis", "synthesized_glycan_count": 0, "hit_score": 23.7, "record_id": "P20849-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P25940-1", "uniprot_id": "CO5A3_HUMAN", "mass": 172121.0, "length": 1745, "protein_name": "Collagen alpha-3(V) chain", "gene_name": "COL5A3", "organism": "Human", "refseq_name": "collagen alpha-3(V) chain preproprotein", "refseq_ac": "NP_056534", "gene_names_uniprotkb": "COL5A3", "gene_names_refseq": "COL5A3", "protein_names_uniprotkb": "Collagen alpha-3(V) chain", "protein_names_refseq": "collagen alpha-3(V) chain preproprotein; collagen alpha-3(V) chain; collagen, type V, alpha 3; pro-(alpha)3(V) collagen", "tax_id": 9606, "disease": "", "pathway": " (hsa:50509); (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": 264, "publication_id_list": "10.1101/2023.09.13.557529;10022829;10049780;10209034;10339611;10366422;10438935;10479448;10508235;10521801;10543983;10551873;10593924;10596943;10605720;10640428;10673326;10673366;10713152;10722718;10809722;10811134;10934207;10966814;10982388;11013208;11084047;11119712;11158588;11259413;11518510;11572855;11577169;11713259;11739641;11847221;11927537;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;17287340;17314405;17339034;17367763;17574028;17588949;17604334;17943726;17968485;18059411;18487197;18559524;18622425;18710925;18775695;19075007;19159218;19502598;19564526;19693541;20033473;2005102;2010551;2045422;20470363;2059554;20690820;20705068;20802513;20813817;21251937;21376233;21593211;21642437;2169335;21789315;21878990;21935455;21967573;22134916;22241472;22382088;2253219;22539938;22884367;22933705;2307289;23374253;23583652;2364322;2412224;2420006;2430969;24480479;25328409;2537292;2543975;2548603;2551898;25597754;2809592;2834383;28435517;2845110;28514659;29093181;29137923;29168291;29263244;29408302;29557506;2963012;29741879;29964125;3038863;30389923;30459171;31085175;31092671;31154438;31217245;3173483;31844290;3223920;32387766;34357683;35051231;35580925;36213313;37074911;37453717;37938771;3872795;3905801;3938630;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;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;9443892;9545296;9560306;9565552;9582318;9651395;9659899;9659900;9685393;9739761;9856810;9858236;9949188", "class_list": "", "function": "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 thought to be responsible for the symptoms of a subset of patients with Ehlers-Danlos syndrome type III. Messages of several sizes can be detected in northern blots but sequence information cannot confirm the identity of the shorter messages. [provided by RefSeq, Jul 2008]., [RefSeq]; This study identified significant interaction between two new genes, COL5A3 and MMP9, which may be accounted for by a degradation of COL5A3 by MMP9 influencing eczema susceptibility, [RefSeq, PubMed]; 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., [UniProtKB]", "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": 2, "reported_o_glycosites": 1, "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": 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": 60, "reported_interactions": 0, "missing_score": 8836, "biomarker_type": "", "glycan_count": 9, "disease_count": 0, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "Q9NZQ6", "ec_number_list": "", "go_molecular_function": "GO:0008201 heparin binding;GO:0005518 collagen 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:0005788 endoplasmic reticulum lumen;GO:0031012 extracellular matrix;GO:0005588 collagen type V trimer", "go_biological_process": "GO:0030199 collagen fibril organization;GO:0043588 skin development;GO:0048705 skeletal system morphogenesis", "synthesized_glycan_count": 0, "hit_score": 28.2, "record_id": "P25940-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P32238-1", "uniprot_id": "CCKAR_HUMAN", "mass": 47841.0, "length": 428, "protein_name": "Cholecystokinin receptor type A", "gene_name": "CCKAR", "organism": "Human", "refseq_name": "cholecystokinin receptor type A", "refseq_ac": "NP_000721", "gene_names_uniprotkb": "CCKAR; CCKRA", "gene_names_refseq": "CCK-1R; CCK-A; CCK1-R; CCK1R; CCKAR; CCKRA", "protein_names_uniprotkb": "Cholecystokinin receptor type A; CCK-A receptor; CCK-AR; CCK1-R; Cholecystokinin-1 receptor", "protein_names_refseq": "CCK-A receptor; CCK-AR; cholecystokinin receptor type A; cholecystokinin type 1 receptor; cholecystokinin type-A receptor; cholecystokinin-1 receptor", "tax_id": 9606, "disease": "cholelithiasis (Disease Ontology:DOID:10211); pancreatic cancer (Disease Ontology:DOID:1793); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:886); (R-HSA-375276); (R-HSA-416476)", "pathway_count": 3, "publication_count": 129, "publication_id_list": "10079109;10100623;10191087;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10555959;10567430;10604470;10682840;10727532;10854085;10861009;10899166;11015615;11300760;11322507;11385580;11457843;11562423;11683476;11742120;11753430;11773063;12120503;12427552;12540846;12719537;1280419;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;15139756;15539556;1567413;15947423;15951850;16182515;16268778;16339447;1655761;16754659;16923326;1710450;1710578;1719979;1722333;18127230;18434541;1847994;18515384;18577758;18936096;1905813;23446738;23690594;24715725;24906252;25892735;2649896;27496565;2841328;30429286;3086311;31324691;3202875;33050050;3366244;34086670;3525564;3856870;39083706;6274691;6281660;6373251;6589611;7057924;7524088;7557108;7590751;7592910;7592911;7624359;7797512;7905839;7937899;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8343165;8373420;8381365;8383682;8395824;8440682;8463333;8503909;8615752;8664309;8666380;8702752;873923;8823230;9171878;9305846;9521323;9530155;9593744;9607765;9685625;9722565;9770463;9792798;9832121;9851594", "class_list": "", "function": "Cholesterol-dependent dynamic changes in the conformation of the type 1 cholecystokinin receptor affect ligand binding and G protein coupling. Publication Status: Online-Only, [RefSeq, PubMed]; Photodynamic Activation of Cholecystokinin 1 Receptor with Different Genetically Encoded Protein Photosensitizers and from Varied Subcellular Sites. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for cholecystokinin. Mediates pancreatic growth and enzyme secretion, smooth muscle contraction of the gall bladder and stomach. Has a 1000-fold higher affinity for CCK rather than for gastrin. It modulates feeding and dopamine-induced behavior in the central and peripheral nervous system. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system., [UniProtKB]; Structures of the human cholecystokinin 1 (CCK1) receptor bound to Gs and Gq mimetic proteins provide insight into mechanisms of G protein selectivity. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a G-protein coupled receptor that binds non-sulfated members of the cholecystokinin (CCK) family of peptide hormones. This receptor is a major physiologic mediator of pancreatic enzyme secretion and smooth muscle contraction of the gallbladder and stomach. In the central and peripheral nervous system this receptor regulates satiety and the release of beta-endorphin and dopamine. [provided by RefSeq, Jul 2008]., [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": 28, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2R9Z5", "ec_number_list": "", "go_molecular_function": "GO:0017046 peptide hormone binding;GO:0004951 cholecystokinin receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0046883 regulation of hormone secretion;GO:0032870 cellular response to hormone stimulus;GO:0007200 phospholipase C-activating G protein-coupled receptor signaling pathway;GO:0038188 cholecystokinin signaling pathway", "synthesized_glycan_count": 0, "hit_score": 13.0, "record_id": "P32238-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P34972-1", "uniprot_id": "CNR2_HUMAN", "mass": 39681.0, "length": 360, "protein_name": "Cannabinoid receptor 2", "gene_name": "CNR2", "organism": "Human", "refseq_name": "cannabinoid receptor 2", "refseq_ac": "NP_001832", "gene_names_uniprotkb": "CNR2; CB2A; CB2B", "gene_names_refseq": "CB-2; CB2; CNR2; CX5", "protein_names_uniprotkb": "Cannabinoid receptor 2; CB-2; CB2; CX5; hCB2", "protein_names_refseq": "cannabinoid receptor 2 (macrophage); cannabinoid receptor 2", "tax_id": 9606, "disease": "sciatic neuropathy (Disease Ontology:DOID:11446); Huntington's disease (Disease Ontology:DOID:12858); alcohol use disorder (Disease Ontology:DOID:1574); anxiety disorder (Disease Ontology:DOID:2030); pancreatitis (Disease Ontology:DOID:4989); cocaine abuse (Disease Ontology:DOID:809); arthritis (Disease Ontology:DOID:848); cocaine dependence (Disease Ontology:DOID:9975)", "pathway": " (hsa:1269); (R-HSA-373076); (R-HSA-418594)", "pathway_count": 3, "publication_count": 73, "publication_id_list": "10051546;10400664;10617657;11007482;11727770;12120503;12153574;12417328;12511587;12522134;12524422;12663043;12711605;12955148;14617636;14657172;15141213;15266552;15280385;15326175;15929991;15951850;16540462;1656963;16634148;16754668;16844083;16923326;17139494;17339491;17462861;17876302;18286196;18434541;18577758;18588883;18692962;19397896;19496827;21796212;2263478;23955712;24715725;2534964;2748346;27920218;28218747;2834384;28832583;29242379;29314611;29437277;31217245;31844290;32502341;32983136;33912179;34087483;34357683;35154160;38069049;38338960;38802979;39097161;7498464;7556170;7568007;7689702;7775459;7937899;7946354;8015379;8406495", "class_list": "", "function": "CB1 and CB2 receptor mRNA expression in human peripheral blood mononuclear cells (PBMC) from various donor types., [RefSeq, PubMed]; CB2 Cannabinoid Receptor as a Potential Target in Myocardial Infarction: Exploration of Molecular Pathogenesis and Therapeutic Strategies. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Cannabinoid receptor 2 plays a key role in renal fibrosis through inhibiting lipid metabolism in renal tubular cells., [RefSeq, PubMed]; Heterotrimeric G protein-coupled receptor for endocannabinoid 2-arachidonoylglycerol mediating inhibition of adenylate cyclase. May function in inflammatory response, nociceptive transmission and bone homeostasis., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Neuroprotection and Beyond: The Central Role of CB1 and CB2 Receptors in Stroke Recovery. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Single nucleotide polymorphisms in the cannabinoid CB2 receptor: Molecular pharmacology and disease associations. Review article, [RefSeq, PubMed]; The cannabinoid delta-9-tetrahydrocannabinol is the principal psychoactive ingredient of marijuana. The proteins encoded by this gene and the cannabinoid receptor 1 (brain) (CNR1) gene have the characteristics of a guanine nucleotide-binding protein (G-protein)-coupled receptor for cannabinoids. They inhibit adenylate cyclase activity in a dose-dependent, stereoselective, and pertussis toxin-sensitive manner. These proteins have been found to be involved in the cannabinoid-induced CNS effects (including alterations in mood and cognition) experienced by users of marijuana. The cannabinoid receptors are members of family 1 of the G-protein-coupled receptors. [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": 4, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 8, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "C6ES44;Q4VBK8;Q5JRH7;Q6B0G7;Q6NSY0", "ec_number_list": "", "go_molecular_function": "GO:0004949 cannabinoid receptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0030425 dendrite;GO:0031234 extrinsic component of cytoplasmic side of plasma membrane", "go_biological_process": "GO:0006954 inflammatory response;GO:0006955 immune response;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0032496 response to lipopolysaccharide;GO:0045471 response to ethanol", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "P34972-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P56277-1", "uniprot_id": "CMC4_HUMAN", "mass": 7747.0, "length": 68, "protein_name": "Cx9C motif-containing protein 4", "gene_name": "CMC4", "organism": "Human", "refseq_name": "cx9C motif-containing protein 4", "refseq_ac": "NP_001018024", "gene_names_uniprotkb": "CMC4; C6.1B; MTCP1NB; MTCP1", "gene_names_refseq": "C6.1B; CMC4; MTCP1B; MTCP1NB; MTCP1; p8MTCP1; p8", "protein_names_uniprotkb": "Cx9C motif-containing protein 4; MTCP-1 type A; Mature T-cell proliferation 1 neighbor protein; Mature T-cell proliferation-1 type A; Protein p8 MTCP-1; p8MTCP1", "protein_names_refseq": "C-x(9)-C motif containing 4 homolog; MTCP-1 type A; cx9C motif-containing protein 4; mature T-cell proliferation 1 neighbor protein; mature T-cell proliferation-1 type A; protein p8 MTCP-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:100272147); (R-HSA-1268020)", "pathway_count": 2, "publication_count": 24, "publication_id_list": "14726512;15254020;15644312;15683237;16185709;16849325;17510655;18174896;18678864;19409522;19453276;19767391;19962426;20593814;21750375;23041349;23597483;23811401;25315652;26697887;31844290;7784073;8361760;9405159", "class_list": "", "function": "This gene was identified by involvement in some t(X;14) translocations associated with mature T-cell proliferations. This region has a complex gene structure, with a common promoter and 5' exon spliced to two different sets of 3' exons that encode two different proteins. This gene represents the downstream 8 kDa protein that localizes to mitochondria.[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": 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": "Q5HYP9", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005758 mitochondrial intermembrane space", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "P56277-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P78556-1", "uniprot_id": "CCL20_HUMAN", "mass": 10762.0, "length": 96, "protein_name": "C-C motif chemokine 20", "gene_name": "CCL20", "organism": "Human", "refseq_name": "C-C motif chemokine 20 isoform 2 precursor", "refseq_ac": "NP_001123518", "gene_names_uniprotkb": "CCL20; LARC; MIP3A; SCYA20", "gene_names_refseq": "CCL20; CKb4; Exodus; LARC; MIP-3-alpha; MIP-3a; MIP3A; SCYA20; ST38", "protein_names_uniprotkb": "C-C motif chemokine 20; Beta-chemokine exodus-1; CC chemokine LARC; Liver and activation-regulated chemokine; MIP-3-alpha; Macrophage inflammatory protein 3 alpha; Small-inducible cytokine A20", "protein_names_refseq": "C-C motif chemokine 20 isoform 2 precursor; CC chemokine LARC; beta chemokine exodus-1; chemokine (C-C motif) ligand 20; liver and activation-regulated chemokine; macrophage inflammatory protein 3 alpha; small inducible cytokine subfamily A (Cys-Cys), member 20; small-inducible cytokine A20", "tax_id": 9606, "disease": "exanthem (Disease Ontology:DOID:0050486); primary cutaneous T-cell non-Hodgkin lymphoma (Disease Ontology:DOID:0060061); anogenital venereal wart (Disease Ontology:DOID:11168); Lyme disease (Disease Ontology:DOID:11729); fungal infectious disease (Disease Ontology:DOID:1564); pancreatic cancer (Disease Ontology:DOID:1793); transient cerebral ischemia (Disease Ontology:DOID:224); brain ischemia (Disease Ontology:DOID:2316); acrodermatitis (Disease Ontology:DOID:2722); asthma (Disease Ontology:DOID:2841); IgA glomerulonephritis (Disease Ontology:DOID:2986); skin papilloma (Disease Ontology:DOID:3178); atopic dermatitis (Disease Ontology:DOID:3310); systemic scleroderma (Disease Ontology:DOID:418); ulcerative colitis (Disease Ontology:DOID:8577); psoriasis (Disease Ontology:DOID:8893)", "pathway": " (hsa:6364); (R-HSA-380108); (R-HSA-418594); (R-HSA-6783783)", "pathway_count": 4, "publication_count": 120, "publication_id_list": "10092818;10229797;10415057;10433356;10640743;10706668;10725696;10725697;10781587;11007482;11035086;11060282;11237011;11352563;12120503;12149255;12554737;12554859;12626585;12832402;12884299;12949249;1460289;15067078;15919823;15951850;16107333;16634148;16923326;16982608;1744577;1840701;18434541;18577758;1891716;1940369;1940799;20002784;20068036;20145033;2078213;21376174;2217207;23765988;2423119;24743777;25122636;2534964;2748346;2834384;28855257;2970963;3098319;31848261;3260265;33043033;34357683;35051231;37721971;38197598;38374573;38600588;38809918;7510216;7512027;7512451;7516408;7543512;7593617;7594602;7602097;7622448;7642634;7679328;7684412;7687627;7851893;7875320;7902377;7937899;8015379;8048929;8063757;8102388;8120391;8163946;8186324;8301137;8383238;8406495;8537680;8639485;8662928;8734788;8742066;8849694;8871669;8897595;8910398;8921438;8946277;9013939;9024663;9038201;9129037;9164944;9166430;9169459;9207005;9276730;9312047;9354687;9390561;9449724;9463416;9550426;9618518;9794440;9836587;9918218", "class_list": "", "function": "Acts as a ligand for C-C chemokine receptor CCR6. Signals through binding and activation of CCR6 and induces a strong chemotactic response and mobilization of intracellular calcium ions (PubMed:11035086, PubMed:11352563, PubMed:20068036). The ligand-receptor pair CCL20-CCR6 is responsible for the chemotaxis of dendritic cells (DC), effector/memory T-cells and B-cells and plays an important role at skin and mucosal surfaces under homeostatic and inflammatory conditions, as well as in pathology, including cancer and various autoimmune diseases (PubMed:21376174). CCL20 acts as a chemotactic factor that attracts lymphocytes and, slightly, neutrophils, but not monocytes (PubMed:11352563, PubMed:9038201). Involved in the recruitment of both the pro-inflammatory IL17 producing helper T-cells (Th17) and the regulatory T-cells (Treg) to sites of inflammation. Required for optimal migration of thymic natural regulatory T cells (nTregs) and DN1 early thymocyte progenitor cells (By similarity). C-terminal processed forms have been shown to be equally chemotactically active for leukocytes (PubMed:11035086). Positively regulates sperm motility and chemotaxis via its binding to CCR6 which triggers Ca2+ mobilization in the sperm which is important for its motility (PubMed:23765988, PubMed:25122636). Inhibits proliferation of myeloid progenitors in colony formation assays (PubMed:9129037). May be involved in formation and function of the mucosal lymphoid tissues by attracting lymphocytes and dendritic cells towards epithelial cells (By similarity). Possesses antibacterial activity towards E.coli ATCC 25922 and S.aureus ATCC 29213 (PubMed:12149255)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; CCL20 is an antimicrobial protein with bacteriocidal activity against E. coli and S. aureus., [RefSeq, PubMed]; Food protein-induced allergic proctocolitis in infants is associated with low serum levels of macrophage inflammatory protein-3a., [RefSeq, PubMed]; Role of the CCL20/CCR6 axis in tubular epithelial cell injury: Kidney-specific translational insights from acute kidney injury to chronic kidney disease., [RefSeq, PubMed]; TH1L involvement in colorectal cancer pathogenesis by regulation of CCL20 through the NF-kappaB signalling pathway., [RefSeq, PubMed]; This antimicrobial gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The protein encoded by this gene displays chemotactic activity for lymphocytes and can repress proliferation of myeloid progenitors. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]., [RefSeq]; Transcription Factor TCF3 Promotes Macrophage-Mediated Inflammation and MMP Secretion in Abdominal Aortic Aneurysm by Regulating miR-143-5p /CCL20. Publication Status: Online-Only, [RefSeq, PubMed]; VDR promotes pancreatic cancer progression in vivo by activating CCL20-mediated M2 polarization of tumor associated macrophage. 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": 0, "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": "Q53S51;Q99664", "ec_number_list": "", "go_molecular_function": "GO:0008009 chemokine activity;GO:0031731 CCR6 chemokine receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0006935 chemotaxis;GO:0006954 inflammatory response;GO:0006955 immune response;GO:0007165 signal transduction;GO:0007267 cell-cell signaling", "synthesized_glycan_count": 0, "hit_score": 12.1, "record_id": "P78556-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P80075-1", "uniprot_id": "CCL8_HUMAN", "mass": 11246.0, "length": 99, "protein_name": "C-C motif chemokine 8", "gene_name": "CCL8", "organism": "Human", "refseq_name": "C-C motif chemokine 8 precursor", "refseq_ac": "NP_005614", "gene_names_uniprotkb": "CCL8; MCP2; SCYA10; SCYA8", "gene_names_refseq": "CCL8; HC14; MCP-2; MCP2; SCYA10; SCYA8", "protein_names_uniprotkb": "C-C motif chemokine 8; HC14; MCP-2; Monocyte chemoattractant protein 2; Monocyte chemotactic protein 2; Small-inducible cytokine A8", "protein_names_refseq": "C-C motif chemokine 8 precursor; C-C motif chemokine 8; chemokine (C-C motif) ligand 8; monocyte chemoattractant protein 2; small inducible cytokine subfamily A (Cys-Cys), member 8 (monocyte chemotactic protein 2); small-inducible cytokine A8", "tax_id": 9606, "disease": "COVID-19 (Disease Ontology:DOID:0080600); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); rhinitis (Disease Ontology:DOID:4483)", "pathway": " (hsa:6355)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11087354;12949249;1613466;2518726;25418920;32768961;32983136;33833397;34725321;35051231;36072582;36628560;8898111;9070881;9119400;9558113", "class_list": "", "function": "CCL2, CCL8, CXCL12 chemokines in resectable non-small cell lung cancer (NSCLC)., [RefSeq, PubMed]; CCL8 as a promising prognostic factor in diffuse large B-cell lymphoma via M2 macrophage interactions: A bioinformatic analysis of the tumor microenvironment. Publication Status: Online-Only, [RefSeq, PubMed]; CCL8 is an antimicrobial protein with bacteriocidal activity against E. coli., [RefSeq, PubMed]; CCL8 mediates crosstalk between endothelial colony forming cells and triple-negative breast cancer cells through IL-8, aggravating invasion and tumorigenicity., [RefSeq, PubMed]; Chemotactic factor that attracts monocytes, lymphocytes, basophils and eosinophils. May play a role in neoplasia and inflammatory host responses. This protein can bind heparin. The processed form MCP-2(6-76) does not show monocyte chemotactic activity, but inhibits the chemotactic effect most predominantly of CCL7, and also of CCL2 and CCL5 and CCL8., [UniProtKB, PubMed]; PERK signaling through C/EBPdelta contributes to ER stress-induced expression of immunomodulatory and tumor promoting chemokines by cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; Possible involvement of crosstalk between endometrial cells and mast cells in the development of endometriosis via CCL8/CCR1., [RefSeq, PubMed]; This antimicrobial gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of N-terminal cysteine residues of the mature peptide. This chemokine is a member of the CC subfamily which is characterized by two adjacent cysteine residues. This cytokine displays chemotactic activity for monocytes, lymphocytes, basophils and eosinophils. By recruiting leukocytes to sites of inflammation this cytokine may contribute to tumor-associated leukocyte infiltration and to the antiviral state against HIV infection. [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": 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": "A0AV77;P78388", "ec_number_list": "", "go_molecular_function": "GO:0004672 protein kinase activity;GO:0008201 heparin binding;GO:0016004 phospholipase activator activity;GO:0008009 chemokine activity;GO:0048020 CCR chemokine receptor binding", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0006935 chemotaxis;GO:0006954 inflammatory response;GO:0007165 signal transduction;GO:0007267 cell-cell signaling;GO:0030335 positive regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "P80075-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q01955-1", "uniprot_id": "CO4A3_HUMAN", "mass": 161813.0, "length": 1670, "protein_name": "Collagen alpha-3(IV) chain", "gene_name": "COL4A3", "organism": "Human", "refseq_name": "collagen alpha-3(IV) chain precursor", "refseq_ac": "NP_000082", "gene_names_uniprotkb": "COL4A3", "gene_names_refseq": "ATS2; ATS3A; ATS3B; ATS3; BFH2; COL4A3", "protein_names_uniprotkb": "Collagen alpha-3(IV) chain; Goodpasture antigen", "protein_names_refseq": "collagen IV, alpha-3 polypeptide; collagen alpha-3(IV) chain precursor; collagen alpha-3(IV) chain; collagen, type IV, alpha 3 (Goodpasture antigen); tumstatin", "tax_id": 9606, "disease": "sinusitis (Disease Ontology:DOID:0050127); Alport syndrome 3B (Disease Ontology:DOID:0051080); complement component 2 deficiency (Disease Ontology:DOID:0060295); lupus nephritis (Disease Ontology:DOID:0080162); atypical hemolytic-uremic syndrome (Disease Ontology:DOID:0080301); polycystic kidney disease (Disease Ontology:DOID:0080322); erythema nodosum (Disease Ontology:DOID:0080750); age related macular degeneration 14 (Disease Ontology:DOID:0110026); Alport syndrome 3A (Disease Ontology:DOID:0110032); Alport syndrome 2 (Disease Ontology:DOID:0110033); benign familial hematuria (Disease Ontology:DOID:0111365); Alzheimer's disease (Disease Ontology:DOID:10652); lepromatous leprosy (Disease Ontology:DOID:10887); sickle cell anemia (Disease Ontology:DOID:10923); membranous glomerulonephritis (Disease Ontology:DOID:10976); Alport syndrome (Disease Ontology:DOID:10983); pyelonephritis (Disease Ontology:DOID:11400); factor VIII deficiency (Disease Ontology:DOID:12134); beta thalassemia (Disease Ontology:DOID:12241); paracoccidioidomycosis (Disease Ontology:DOID:12662); Behcet's disease (Disease Ontology:DOID:13241); anterior uveitis (Disease Ontology:DOID:1407); boutonneuse fever (Disease Ontology:DOID:14095); breast cancer (Disease Ontology:DOID:1612); membranoproliferative glomerulonephritis (Disease Ontology:DOID:2920); glomerulonephritis (Disease Ontology:DOID:2921); IgA glomerulonephritis (Disease Ontology:DOID:2986); systemic scleroderma (Disease Ontology:DOID:418); macular degeneration (Disease Ontology:DOID:4448); conjunctivitis (Disease Ontology:DOID:6195); end stage renal disease (Disease Ontology:DOID:783); retinal degeneration (Disease Ontology:DOID:8466); psoriasis (Disease Ontology:DOID:8893); diabetic retinopathy (Disease Ontology:DOID:8947); autosomal dominant polycystic kidney disease (Disease Ontology:DOID:898); systemic lupus erythematosus (Disease Ontology:DOID:9074); type 1 diabetes mellitus (Disease Ontology:DOID:9744); acute lymphoblastic leukemia (Disease Ontology:DOID:9952); hematuria, benign familial, 2 (MONDO:MONDO:0958186)", "pathway": " (hsa:1285); (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-9638630)", "pathway_count": 15, "publication_count": 302, "publication_id_list": "10022829;10049780;10209034;10212244;10339611;10366422;10438935;10479448;10508235;10543983;10551873;10593924;10596943;10605720;10640428;10673326;10673366;10713152;10766752;10809722;10811134;10837460;10934207;10966814;10982388;11013208;11044206;11054877;11084047;11119712;11134255;11158588;11237011;11259413;11313359;11518510;11572855;11577169;11713259;11739641;11847221;11927537;11961012;11964076;11980922;11986329;12193605;12211432;12225811;12237301;12369853;1237296;12473679;12475640;12482924;12496264;12538485;12579531;12585966;12646579;12682293;12765789;12807887;1311092;1323838;1348714;1376317;1400291;1400327;14500733;14569090;14602708;14715956;1484505;15005656;15044469;15075323;15199166;15207811;15240572;15257288;15265795;15296743;15330449;15345499;15383545;1544908;15492988;15615512;1567360;15713743;15767546;1577494;15837520;1588291;15899827;15950618;15954103;16002701;16051604;16239428;16267048;16272566;16293224;16331269;1639841;16413178;16436588;16474853;16493581;16563355;16581764;16591531;16731529;16754661;16806867;16825197;16933105;1704217;17088321;171650;1721062;17287425;17339034;17367763;1737849;17588949;17604334;17943726;17968485;18059411;18216317;18487197;18559524;18599485;18622425;18710925;18775695;1882840;19075007;19502598;19564526;19693541;19729652;20033473;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;23374253;23583652;2364322;23927549;2412224;2420006;2430969;25328409;2537292;2543975;2548603;2551898;25597754;25645385;2809592;28218747;2834383;28435517;2845110;28467828;29093181;29137923;29263244;29408302;29644627;29946535;29964125;3038863;30389923;3082888;31085175;3173483;31844290;3223920;32387766;35051231;3595596;36215666;37217939;38253038;3872795;38838015;38978054;3905801;3938630;3992061;3997977;41816;5246001;5723342;6129847;6193777;6258630;6270089;6307276;641035;6439184;6643500;6694361;6809411;710450;7499434;7505120;7523402;7525578;7527058;7541634;7542249;7542669;7559467;7685013;7693733;7758473;7768924;7852349;7890717;7987301;7987396;8002934;8083201;8118028;8207089;8262246;8294492;8344274;8440685;8463259;8505332;8548560;8560266;8576151;8636146;8691734;8702503;8798654;8838667;8900172;8910476;8920930;8943283;8999957;9008168;9054364;9092507;9195222;9245798;9251239;9252349;9294172;9334164;9341124;9346959;9398268;9443892;9470928;9537506;9545296;9560306;9565552;9565555;9582318;9645947;9651395;9659899;9659900;9685393;9739761;9856810;9858236;9949188", "class_list": "", "function": "Four novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Tumstatin, a cleavage fragment corresponding to the collagen alpha 3(IV) NC1 domain, possesses both anti-angiogenic and anti-tumor cell activity; these two anti-tumor properties may be regulated via RGD-independent ITGB3-mediated mechanisms., [UniProtKB]; 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]; Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. This gene encodes alpha 3. In the Goodpasture syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. The epitopes that elicit these autoantibodies are localized largely to the non-collagenous C-terminal domain of the protein. A specific kinase phosphorylates amino acids in this same C-terminal region and the expression of this kinase is upregulated during pathogenesis. This gene is also linked to an autosomal recessive form of Alport syndrome. The mutations contributing to this syndrome are also located within the exons that encode this C-terminal region. 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. [provided by RefSeq, Jun 2010]., [RefSeq]", "predicted_glycosites": 10, "predicted_n_glycosites": 1, "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": 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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 39, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 39, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "Q53QQ1;Q53R14;Q53RW8;Q9BQT2;Q9NYC4;Q9UDJ9;Q9UDK9;Q9UDL0;Q9UDL1", "ec_number_list": "", "go_molecular_function": "GO:0005178 integrin binding;GO:0005198 structural molecule activity;GO:0008191 metalloendopeptidase inhibitor activity;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:0005604 basement membrane;GO:0005587 collagen type IV trimer", "go_biological_process": "GO:0007155 cell adhesion;GO:0007166 cell surface receptor signaling pathway;GO:0008285 negative regulation of cell population proliferation;GO:0030198 extracellular matrix organization;GO:0030199 collagen fibril organization", "synthesized_glycan_count": 0, "hit_score": 30.6, "record_id": "Q01955-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q14028-1", "uniprot_id": "CNGB1_HUMAN", "mass": 139678.0, "length": 1251, "protein_name": "Cyclic nucleotide-gated channel beta-1", "gene_name": "CNGB1", "organism": "Human", "refseq_name": "cyclic nucleotide-gated channel beta-1 isoform b", "refseq_ac": "NP_001129111", "gene_names_uniprotkb": "CNGB1; CNCG2; CNCG3L; CNCG4; RCNC2", "gene_names_refseq": "CNCG2; CNCG3L; CNCG4; CNG4; CNGB1B; CNGB1; GAR1; GARP2; GARP; RCNC2; RCNCbeta; RCNCb; RP45", "protein_names_uniprotkb": "Cyclic nucleotide-gated channel beta-1; CNG channel 4; CNG channel beta-1; CNG-4; CNG4; Cyclic nucleotide-gated cation channel 4; Cyclic nucleotide-gated cation channel gamma; Cyclic nucleotide-gated cation channel modulatory subunit; GARP; Glutamic acid-rich protein", "protein_names_refseq": "CNG channel beta-1; CNG-4; cyclic nucleotide gated channel beta 1; cyclic nucleotide-gated cation channel 4; cyclic nucleotide-gated cation channel beta-1; cyclic nucleotide-gated cation channel gamma; cyclic nucleotide-gated cation channel modulatory subunit; cyclic nucleotide-gated channel beta-1 isoform b; glutamic-acid-rich protein", "tax_id": 9606, "disease": "retinitis pigmentosa 45 (Disease Ontology:DOID:0110402); retinitis pigmentosa (Disease Ontology:DOID:10584); hypertension (Disease Ontology:DOID:10763); asthma (Disease Ontology:DOID:2841); acute kidney failure (Disease Ontology:DOID:3021); ureteral obstruction (Disease Ontology:DOID:5199); end stage renal disease (Disease Ontology:DOID:783); hyperargininemia (Disease Ontology:DOID:9278)", "pathway": " (hsa:1258); (R-HSA-2485179); (R-HSA-2514859); (R-HSA-5620916)", "pathway_count": 4, "publication_count": 140, "publication_id_list": "10.1074/mcp.M114.046862;10037746;10051575;10564809;10676965;10717482;11237011;11292825;11379879;11601986;11687658;11713293;11754336;11764791;12036349;12119397;12221131;12432397;12467591;12467592;12499365;12825937;1356371;1379636;1387789;1436039;14702087;15158452;15195096;15728366;15946941;16038802;16136078;1614872;16155582;16274222;16280326;16407240;16431365;16460277;16537653;16782012;16895762;16908407;17007872;17030804;17114291;1720239;1722240;17574030;17628206;17636946;17646400;17956946;18685082;18803695;19017632;19153612;19297529;19454479;19818506;1999465;20083215;20308558;20430952;20850105;20975703;21273506;21550243;2155175;21565611;2161380;21775626;22389062;22420621;22433857;22658984;22983554;23351793;23567335;23945166;2422346;24296415;24339724;2457685;2467600;2473195;2540796;2550422;2558719;2578616;25813380;2748346;28056120;28218747;2835761;2837463;29800053;3006923;3095147;3164688;33847019;34209753;34699778;34971760;35494241;37056049;3933561;4359491;4361997;4366891;4772407;6264430;6930647;7525588;7526403;7590744;7644482;7670478;7678445;7682292;7777544;7983048;8382952;8494894;8500562;8626439;8673138;8706659;8766832;8812493;8913594;9119368;9353336;9430683;9459445;9478004;9506952;9535905;9819391", "class_list": "", "function": "CNGB1-related rod-cone dystrophy: A mutation review and update. Review article, [RefSeq, PubMed]; Development of a translatable gene augmentation therapy for CNGB1-retinitis pigmentosa., [RefSeq, PubMed]; Functional Evaluation of Splicing for Variants of Uncertain Significance in Patients with Inherited Retinal Diseases. Publication Status: Online-Only, [RefSeq, PubMed]; High affinity rod photoreceptor phosphodiesterase (PDE6)-binding protein that modulates its catalytic properties: it is a regulator of spontaneous activation of rod PDE6, thereby serving to lower rod photoreceptor 'dark noise' and allowing these sensory cells to operate at the single photon detection limit., [UniProtKB, PubMed]; In humans, the rod photoreceptor cGMP-gated cation channel helps regulate ion flow into the rod photoreceptor outer segment in response to light-induced alteration of the levels of intracellular cGMP. This channel consists of two subunits, alpha and beta, with the protein encoded by this gene representing the beta subunit. Defects in this gene are a cause of cause of retinitis pigmentosa type 45. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]., [RefSeq]; Pore-forming subunit of the rod cyclic nucleotide-gated channel. Mediates rod photoresponses at dim 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 (By similarity) (PubMed:34699778). 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 (By similarity). Conducts cGMP- and cAMP-gated ion currents, with permeability for monovalent and divalent cations. The selectivity for Ca(2+) over Na(+) increases with cGMP concentrations, whereas the selectivity among monovalent ions is independent of the cGMP levels (By similarity) (PubMed:34699778)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; Structural basis of the partially open central gate in the human CNGA1/CNGB1 channel explained by additional density for calmodulin in cryo-EM map., [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": 38, "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": "H3BN09;O43636;Q13059;Q14029;Q9UMG2", "ec_number_list": "2.7.11.1;1.8.-.-", "go_molecular_function": "GO:0005262 calcium channel activity;GO:0015276 ligand-gated monoatomic ion channel activity;GO:0044877 protein-containing complex binding;GO:0005223 intracellularly cGMP-activated cation channel activity;GO:0005272 sodium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043195 terminal bouton;GO:0060170 ciliary membrane;GO:0001750 photoreceptor outer segment;GO:0017071 intracellular cyclic nucleotide activated cation channel complex", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0006816 calcium ion transport;GO:0051480 regulation of cytosolic calcium ion concentration;GO:0051899 membrane depolarization;GO:0007601 visual perception", "synthesized_glycan_count": 0, "hit_score": 14.3, "record_id": "Q14028-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q49A92-6", "uniprot_id": "CH034_HUMAN", "mass": 59434.0, "length": 538, "protein_name": "Uncharacterized protein C8orf34", "gene_name": "C8orf34", "organism": "Human", "refseq_name": "uncharacterized protein C8orf34 isoform 1", "refseq_ac": "NP_443190", "gene_names_uniprotkb": "C8orf34", "gene_names_refseq": "C8orf34; VEST-1; VEST1", "protein_names_uniprotkb": "Uncharacterized protein C8orf34; Protein VEST-1", "protein_names_refseq": "protein VEST-1; uncharacterized protein C8orf34 isoform 1; uncharacterized protein C8orf34; vestibule-1 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:116328)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "16959974;30429286;32983136", "class_list": "", "function": "This gene encodes a protein that is related to the cyclic AMP dependent protein kinase regulators. Naturally occurring mutations in this gene are associated with an increased risk for severe toxicities, such as diarrhea and neutropenia, in patients undergoing chemotherapeutic treatment. [provided by RefSeq, Mar 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": 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": "A0A0C4DFS7;A8K5X1;G3XAM6;Q8N1X0;Q8N9M7;Q8ND19;Q96Q28", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q49A92-6", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5K131-1", "uniprot_id": "CLLU1_HUMAN", "mass": 14228.0, "length": 121, "protein_name": "Chronic lymphocytic leukemia up-regulated protein 1", "gene_name": "CLLU1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "CLLU1", "gene_names_refseq": "", "protein_names_uniprotkb": "Chronic lymphocytic leukemia up-regulated protein 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 4, "publication_id_list": "16339396;17284524;19212335;19726446", "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:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q5K131-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5T8R8-1", "uniprot_id": "DOAS1_HUMAN", "mass": 31184.0, "length": 295, "protein_name": "Uncharacterized protein DOCK8-AS1", "gene_name": "DOCK8-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "DOCK8-AS1; C9orf66", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein DOCK8-AS1; DOCK8 antisense RNA 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "23481700;27893789;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": "Q96NB0", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q5T8R8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZUL3-1", "uniprot_id": "CH086_HUMAN", "mass": 24736.0, "length": 223, "protein_name": "Uncharacterized protein LINC03042", "gene_name": "LINC03042", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "LINC03042; C8orf86", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein LINC03042; Long intergenic non-protein coding RNA 3042", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "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": "A4QPB7", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q6ZUL3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N910-1", "uniprot_id": "CO056_HUMAN", "mass": 17040.0, "length": 161, "protein_name": "Putative uncharacterized protein PAK6-AS1", "gene_name": "PAK6-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "PAK6-AS1; C15orf56", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein PAK6-AS1; PAK6 antisense RNA 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "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": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q8N910-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N9P6-1", "uniprot_id": "CI163_HUMAN", "mass": 22154.0, "length": 203, "protein_name": "Uncharacterized protein C9orf163", "gene_name": "C9orf163", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "C9orf163", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein C9orf163", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "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": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q8N9P6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TBE1-1", "uniprot_id": "CNIH3_HUMAN", "mass": 18976.0, "length": 160, "protein_name": "Protein cornichon homolog 3", "gene_name": "CNIH3", "organism": "Human", "refseq_name": "protein cornichon homolog 3 isoform 1", "refseq_ac": "NP_689708", "gene_names_uniprotkb": "CNIH3", "gene_names_refseq": "CNIH-3; CNIH3", "protein_names_uniprotkb": "Protein cornichon homolog 3; CNIH-3; Cornichon family AMPA receptor auxiliary protein 3", "protein_names_refseq": "protein cornichon homolog 3 isoform 1; protein cornichon homolog 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:149111); (R-HSA-204005); (R-HSA-5694530)", "pathway_count": 3, "publication_count": 85, "publication_id_list": "10445031;10559958;10559959;10652252;10679020;10747087;10788476;10825291;10903204;10982397;11035026;11285137;11306556;11927603;12070132;12235121;12237308;15037235;16129679;16303754;16495487;16624868;16912714;17005010;17010120;17038314;17192411;17287728;17316621;17499046;17562788;17607000;17684057;18025080;18283111;18287528;18843296;19164740;19265014;19269366;19566487;19638414;19656848;20427317;20477988;20533886;20545907;20679433;20805473;20966969;21478858;21525241;21532587;21689688;21878990;22013193;22157747;22675024;23103966;23378591;23479643;23698585;23852824;23864707;24119662;24917561;25202031;25406594;25492864;25586378;25619252;25619253;25892735;26239289;35580925;8221884;8620540;8663406;9094723;9150144;9177194;9307973;9395526;9472029;9647643", "class_list": "", "function": "Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by regulating their rates of activation, deactivation and desensitization., [UniProtKB, PubMed]; Significant upregulation of CNIH-3 mRNA expression was found in schizophrenia., [RefSeq, PubMed]; Study's convergent findings in humans and mice support CNIH3 involvement in the pathophysiology of opioid dependence, complementing prior studies implicating the alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) glutamate 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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:0005102 signaling receptor binding;GO:0016247 channel regulator activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0030425 dendrite;GO:0043198 dendritic shaft;GO:0045202 synapse;GO:0045211 postsynaptic membrane", "go_biological_process": "GO:0035249 synaptic transmission, glutamatergic;GO:0016192 vesicle-mediated transport;GO:2000311 regulation of AMPA receptor activity;GO:0099645 neurotransmitter receptor localization to postsynaptic specialization membrane", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "Q8TBE1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96KA5-1", "uniprot_id": "CLP1L_HUMAN", "mass": 62229.0, "length": 538, "protein_name": "Lipid scramblase CLPTM1L", "gene_name": "CLPTM1L", "organism": "Human", "refseq_name": "lipid scramblase CLPTM1L", "refseq_ac": "NP_110409", "gene_names_uniprotkb": "CLPTM1L; CRR9", "gene_names_refseq": "CLPTM1L; CRR9", "protein_names_uniprotkb": "Lipid scramblase CLPTM1L; CLPTM1-like protein; CRR9p; Cisplatin resistance-related protein 9; Cleft lip and palate transmembrane protein 1-like protein", "protein_names_refseq": "CLPTM1-like protein; cisplatin resistance related protein CRR9p; cisplatin resistance-related protein 9; cleft lip and palate transmembrane protein 1-like protein; lipid scramblase CLPTM1L", "tax_id": 9606, "disease": "oral squamous cell carcinoma (Disease Ontology:DOID:0050866); pharynx squamous cell carcinoma (Disease Ontology:DOID:0050921); lung cancer (Disease Ontology:DOID:1324); 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); gallbladder carcinoma (Disease Ontology:DOID:4948); hepatocellular carcinoma (Disease Ontology:DOID:684); nasopharynx carcinoma (Disease Ontology:DOID:9261); pulmonary emphysema (Disease Ontology:DOID:9675)", "pathway": " (hsa:81037)", "pathway_count": 1, "publication_count": 102, "publication_id_list": "37268159;10.1101/2023.09.13.557529;11162647;11237011;16959974;18978787;18978790;19151717;19159218;19369581;22645359;23481700;24190977;24714562;25418920;25576301;25880248;25892735;26154972;26375851;26728094;26992070;27452731;27846572;27862975;27920218;28218747;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29741879;29769354;29786170;30059200;30315122;30410026;30524438;30779550;30833945;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33592498;33633747;33691108;33717175;33794208;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34357683;34846842;34932366;35051231;35154160;35251023;35254053;35318648;35344438;35561310;35580925;36215666;36241641;36284347;36459980;36581221;37074911;37389656;37938771;38254939;38665916;40596516", "class_list": "", "function": "CLPTM1L is a GPI-anchoring pathway component targeted by HCMV., [RefSeq, PubMed]; Exploring the Relationship between CLPTM1L-MS2 Variants and Susceptibility to Bladder Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Functional characterization of 5p15.33 risk locus in uveal melanoma reveals rs452384 as a functional variant and NKX2.4 as an allele-specific interactor., [RefSeq, PubMed]; Genetic variation in cervical preinvasive and invasive disease: a genome-wide association study., [RefSeq, PubMed]; Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator), [RefSeq, PubMed]; Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Scramblase that mediates the translocation of glucosaminylphosphatidylinositol (alpha-D-GlcN-(1-6)-(1,2-diacyl-sn-glycero-3-phospho)-1D-myo-inositol, GlcN-PI) across the endoplasmic reticulum (ER) membrane, from the cytosolic leaflet to the luminal leaflet of the ER membrane, where it participates in the biosynthesis of glycosylphosphatidylinositol (GPI) (PubMed:35344438). GPI is a lipid glycoconjugate involved in post-translational modification of proteins (PubMed:35344438). Can also translocate 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) (phosphatidylinositol or PI), as well as several other phospholipids (1,2-diacyl-sn-glycero-3-phosphocholine, 1,2-diacyl-sn-glycero-3-phosphoethanolamine), and N-acetylglucosaminylphosphatidylinositol (GlcNAc-PI) in vitro (PubMed:35344438)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Sequence variants at the TERT-CLPTM1L locus associate with many cancer types., [RefSeq, PubMed]; The protein encoded by this gene is a membrane protein whose overexpression in cisplatin-sensitive cells causes apoptosis. Polymorphisms in this gene have been reported to increase susceptibility to several cancers, including lung, pancreatic, and breast cancers. [provided by RefSeq, Nov 2015]., [RefSeq]; The susceptibility region contains two genes, TERT and CLPTM1L, suggesting that one or both may have a role in lung cancer etiology. GeneRIF: 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": 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 24, "disease_count": 11, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "D3DTC1;Q658W6;Q7LG29;Q96AZ0;Q9H3N4", "ec_number_list": "3.1.-.-", "go_molecular_function": "GO:0017128 phospholipid scramblase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 13.1, "record_id": "Q96KA5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96LT7-1", "uniprot_id": "CI072_HUMAN", "mass": 54328.0, "length": 481, "protein_name": "Guanine nucleotide exchange factor C9orf72", "gene_name": "C9orf72", "organism": "Human", "refseq_name": "guanine nucleotide exchange factor C9orf72 isoform a", "refseq_ac": "NP_001242983", "gene_names_uniprotkb": "C9orf72; DENND9; DENNL72", "gene_names_refseq": "ALSFTD; C9orf72; DENND9; DENNL72; FTDALS1; FTDALS", "protein_names_uniprotkb": "Guanine nucleotide exchange factor C9orf72", "protein_names_refseq": "guanine nucleotide exchange C9orf72; guanine nucleotide exchange factor C9orf72 isoform a; guanine nucleotide exchange factor C9orf72; protein C9orf72", "tax_id": 9606, "disease": "C9orf72 frontotemporal dementia and/or amyotrophic lateral sclerosis (Disease Ontology:DOID:0060213); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); autoimmune disease (Disease Ontology:DOID:417)", "pathway": " (hsa:203228)", "pathway_count": 1, "publication_count": 40, "publication_id_list": "11237011;21944778;21944779;22936364;23329412;23393093;24132570;24549040;24598541;26174152;27037575;27103069;27193190;27334615;27559131;27617292;27723745;28195531;29393594;30366907;31844290;31848261;32157095;32303654;32357974;32387766;32938616;32983136;33298915;33912179;33968037;33981976;34357683;35580925;36010968;37340703;37821429;39000564;39226712;39289761", "class_list": "", "function": "A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked amyotrophic lateral sclerosis-frontotemporal dementia., [RefSeq, PubMed]; Acts as a guanine-nucleotide releasing factor (GEF) for Rab GTPases by promoting the conversion of inactive RAB-GDP to the active form RAB-GTP (PubMed:27103069, PubMed:27193190, PubMed:27617292, PubMed:28195531, PubMed:37821429). Acts as a GEF for RAB39A which enables HOPS-mediated autophagosome-lysosome membrane tethering and fusion in mammalian autophagy (PubMed:37821429). Component of the C9orf72-SMCR8 complex where both subunits display GEF activity and that regulates autophagy (PubMed:27103069, PubMed:27193190, PubMed:27617292, PubMed:28195531). As part of the C9orf72-SMCR8-WDR41 (CSW) complex, functions as GEF for RAB8A and RAB39B, thereby promoting autophagosome maturation (PubMed:27103069). As part of the C9orf72-SMCR8 complex, also functions as GTPase activating protein (GAP) for RAB8A and RAB11A in vitro (PubMed:32303654). The C9orf72-SMCR8 complex also acts as a regulator of autophagy initiation by interacting with the ULK1/ATG1 kinase complex and modulating its protein kinase activity (PubMed:27617292). Promotes initiation of autophagy by regulating the RAB1A-dependent trafficking of the ULK1/ATG1 kinase complex to the phagophore which leads to autophagosome formation (PubMed:27334615). Acts as a regulator of mTORC1 signaling by promoting phosphorylation of mTORC1 substrates (PubMed:27559131). Plays a role in endosomal trafficking (PubMed:24549040). May be involved in regulating the maturation of phagosomes to lysosomes (By similarity). Promotes the lysosomal localization and lysosome-mediated degradation of CARM1 which leads to inhibition of starvation-induced lipid metabolism (By similarity). Regulates actin dynamics in motor neurons by inhibiting the GTP-binding activity of ARF6, leading to ARF6 inactivation (PubMed:27723745). This reduces the activity of the LIMK1 and LIMK2 kinases which are responsible for phosphorylation and inactivation of cofilin, leading to CFL1/cofilin activation (PubMed:27723745). Positively regulates axon extension and axon growth cone size in spinal motor neurons (PubMed:27723745). Required for SMCR8 protein expression and localization at pre- and post-synaptic compartments in the forebrain, also regulates protein abundance of RAB3A and GRIA1/GLUR1 in post-synaptic compartments in the forebrain and hippocampus (By similarity). Plays a role within the hematopoietic system in restricting inflammation and the development of autoimmunity (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; C9orf72 gene repeat expansion phenotype profile of motor neurone disease in Portugal. Erratum:[J Neurol Sci. 2025 Jan 15;468:123363. doi: 10.1016/j.jns.2024.123363. PMID: 39705762], [RefSeq, PubMed]; Does not play a role in regulation of stress granule assembly in response to cellular stress., [UniProtKB, PubMed]; Molecular pathology, developmental changes and synaptic dysfunction in (pre-) symptomatic human C9ORF72-ALS/FTD cerebral organoids. Publication Status: Online-Only, [RefSeq, PubMed]; Our findings indicate that repeat expansion in C9ORF72 is a major cause of both frontotemporal dementia and amyotrophic lateral sclerosis., [RefSeq, PubMed]; Regulates stress granule assembly in response to cellular stress., [UniProtKB, PubMed]; The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a GGGGCC repeat from 2-22 copies to 700-1600 copies in the intronic sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients (PMID: 23393093). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2016]., [RefSeq]; These findings directly link the FTLD/ALS-associated genetic mutation to the predominant pathology in patients with C9orf72 hexanucleotide expansion., [RefSeq, PubMed]; Unveiling New Genetic Variants Associated with Age at Onset in Alzheimer's Disease and Frontotemporal Lobar Degeneration Due to C9orf72 Repeat Expansions. 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": 12, "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": "A8K5W0;D3DRK6;G8I0B6;Q6NUS9", "ec_number_list": "", "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005768 endosome", "go_biological_process": "GO:0006897 endocytosis;GO:0010506 regulation of autophagy;GO:0001933 negative regulation of protein phosphorylation;GO:0032880 regulation of protein localization;GO:0006914 autophagy", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q96LT7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96NL8-1", "uniprot_id": "CF418_HUMAN", "mass": 23381.0, "length": 207, "protein_name": "Cilia- and flagella-associated protein 418", "gene_name": "CFAP418", "organism": "Human", "refseq_name": "cilia- and flagella-associated protein 418 isoform 1", "refseq_ac": "NP_808880", "gene_names_uniprotkb": "CFAP418; C8orf37; smalltalk", "gene_names_refseq": "BBS21; C8orf37; CFAP418; CORD16; FAP418; MOT25; RP64; smalltalk", "protein_names_uniprotkb": "Cilia- and flagella-associated protein 418", "protein_names_refseq": "Bardet-Biedl syndrome 21; cilia- and flagella-associated protein 418 isoform 1; protein C8orf37", "tax_id": 9606, "disease": "Bardet-Biedl syndrome 21 (Disease Ontology:DOID:0081010); cone-rod dystrophy 16 (Disease Ontology:DOID:0111022); retinitis pigmentosa (Disease Ontology:DOID:10584)", "pathway": " (hsa:157657)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "22177090;23788369;25113443;26854863;27008867;34171305;35580925;36233334;37971880", "class_list": "", "function": "Disruption of CFAP418 interaction with lipids causes widespread abnormal membrane-associated cellular processes in retinal degenerations. Publication Status: Online-Only, [RefSeq, PubMed]; In a ciliary-expressed gene (C8orf37), mutations were identified that are associated with autosomal recessive cone-rod dystrophy and retinitis pigmentosa with early macular involvement., [RefSeq, PubMed]; Interactions between C8orf37 and FAM161A, Two Ciliary Proteins Essential for Photoreceptor Survival. Publication Status: Online-Only, [RefSeq, PubMed]; May be involved in photoreceptor outer segment disk morphogenesis (By similarity)., [UniProtKB, UniProtKB]; Mutations in C8orf37 give rise to an early or adolescent-onset autosomal recessive cone rod dystrophy or retinitis pigmentosa phenotype with early macular atrophy. Publication Status: Online-Only, [RefSeq, PubMed]; Our study identified two novel truncating mutations of the C8orf37 gene in siblings with early-onset retinal dystrophy, macular atrophy, cataracts, and high myopia., [RefSeq, PubMed]; This gene encodes a ubiquitously expressed protein of unknown function. It has high levels of mRNA expression in the brain, heart, and retina and the protein co-localizes with polyglutamylated tubulin at the base of the primary cilium in human retinal pigment epithelial cells. Mutations in this gene have been associated with autosomal recessive cone-rod dystrophy (arCRD) and retinitis pigmentosa (arRP). [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": 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": "F4Y588", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0001917 photoreceptor inner segment;GO:0097546 ciliary base", "go_biological_process": "GO:0008594 photoreceptor cell morphogenesis", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q96NL8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99828-1", "uniprot_id": "CIB1_HUMAN", "mass": 21703.0, "length": 191, "protein_name": "Calcium and integrin-binding protein 1", "gene_name": "CIB1", "organism": "Human", "refseq_name": "calcium and integrin-binding protein 1 isoform a", "refseq_ac": "NP_001264693", "gene_names_uniprotkb": "CIB1; CIB; KIP; PRKDCIP", "gene_names_refseq": "CIB1; CIBP; CIB; EV3; KIP1; PRKDCIP; SIP2-28", "protein_names_uniprotkb": "Calcium and integrin-binding protein 1; CIBP; CIB; Calcium- and integrin-binding protein; Calmyrin; DNA-PKcs-interacting protein; KIP; Kinase-interacting protein; SIP2-28; SNK-interacting protein 2-28", "protein_names_refseq": "DNA-PK interaction protein; DNA-PKcs-interacting protein; DNA-dependent protein kinase interacting protein; SNK-interacting protein 2-28; calcium and integrin binding 1 (calmyrin); calcium and integrin-binding protein 1 isoform a; testicular secretory protein Li 9", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); epidermodysplasia verruciformis (Disease Ontology:DOID:13777); epidermodysplasia verruciformis, susceptibility to, 3 (MONDO:MONDO:0032644)", "pathway": " (hsa:10519)", "pathway_count": 1, "publication_count": 129, "publication_id_list": "10366599;10477286;10822252;10826701;11237011;11323029;11756406;11856312;12011095;12023286;12714504;12881299;14992593;15475008;15574431;15685448;15840829;15883187;15933764;16061695;16418530;16723353;17074750;18446792;18627437;19054851;19388079;19805025;19854831;20473878;20639889;20951827;21215777;21264284;21388953;21748785;22283712;22424782;22779914;22964641;23481700;23503467;24011356;24366607;24715725;25418920;25502872;25548167;25576301;25880248;26154972;26768311;26929215;26992070;27397612;27600516;27846572;27862975;28228285;28467828;28514659;28832583;28834231;28904123;29242379;29317506;29393594;29493099;29508533;29557506;29632711;29786170;29789417;30068544;30315122;30429286;30484775;30524438;30833945;31092671;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32917726;32938616;32983136;33141586;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34357683;34509645;34561969;34794407;34932366;35051231;35251023;35561310;35580925;36010968;36215666;36241641;36284347;37187730;37938771;38451745;38993552;9030514;9372844", "class_list": "", "function": "Acts as a restriction factor that promotes keratinocyte-intrinsic immunity to human beta-papillomaviruses (HPVs)., [UniProtKB, PubMed]; CIB1a is a novel mediator of PKD2-driven carcinogenesis., [RefSeq, PubMed]; Calcium-binding protein that plays a role in the regulation of numerous cellular processes, such as cell differentiation, cell division, cell proliferation, cell migration, thrombosis, angiogenesis, cardiac hypertrophy and apoptosis. Involved in bone marrow megakaryocyte differentiation by negatively regulating thrombopoietin-mediated signaling pathway. Participates in the endomitotic cell cycle of megakaryocyte, a form of mitosis in which both karyokinesis and cytokinesis are interrupted. Plays a role in integrin signaling by negatively regulating alpha-IIb/beta3 activation in thrombin-stimulated megakaryocytes preventing platelet aggregation. Up-regulates PTK2/FAK1 activity, and is also needed for the recruitment of PTK2/FAK1 to focal adhesions; it thus appears to play an important role in focal adhesion formation. Positively regulates cell migration on fibronectin in a CDC42-dependent manner, the effect being negatively regulated by PAK1. Functions as a negative regulator of stress activated MAP kinase (MAPK) signaling pathways. Down-regulates inositol 1,4,5-trisphosphate receptor-dependent calcium signaling. Involved in sphingosine kinase SPHK1 translocation to the plasma membrane in a N-myristoylation-dependent manner preventing TNF-induced apoptosis. Regulates serine/threonine-protein kinase PLK3 activity for proper completion of cell division progression. Plays a role in microtubule (MT) dynamics during neuronal development; disrupts the MT depolymerization activity of STMN2 attenuating NGF-induced neurite outgrowth and the MT reorganization at the edge of lamellipodia. Promotes cardiomyocyte hypertrophy via activation of the calcineurin/NFAT signaling pathway. Stimulates calcineurin PPP3R1 activity by mediating its anchoring to the sarcolemma. In ischemia-induced (pathological or adaptive) angiogenesis, stimulates endothelial cell proliferation, migration and microvessel formation by activating the PAK1 and ERK1/ERK2 signaling pathway. Also promotes cancer cell survival and proliferation. May regulate cell cycle and differentiation of spermatogenic germ cells, and/or differentiation of supporting Sertoli cells. Forms a complex with TMC6/EVER1 and TMC8/EVER2 in lymphocytes and keratynocytes where CIB1 stabilizes TMC6 and TMC8 levels and reciprocally (PubMed:30068544, PubMed:32917726)., [UniProtKB, PubMed, PubMed]; Deubiquitination of CIB1 by USP14 promotes lenvatinib resistance via the PAK1-ERK1/2 axis in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Expression of CIB1 correlates with colorectal liver metastases but not with peritoneal carcinomatosis. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of calcium and integrin-binding protein 1 as a reprogrammed glucose metabolism mediator to restrict immune cell infiltration in the stromal compartment of pancreatic ductal adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a regulatory role in angiogenesis and tumor growth by mediating PKD/PRKD2-induced vascular endothelial growth factor A (VEGFA) secretion., [UniProtKB, PubMed]; Role of calcium integrin-binding protein 1 in the mechanobiology of the liver endothelium., [RefSeq, PubMed]; This gene encodes a member of the EF-hand domain-containing calcium-binding superfamily. The encoded protein interacts with many other proteins, including the platelet integrin alpha-IIb-beta-3, DNA-dependent protein kinase, presenilin-2, focal adhesion kinase, p21 activated kinase, and protein kinase D. The encoded protein may be involved in cell survival and proliferation, and is associated with several disease states including cancer and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 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": 14, "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": "B5BU40;H6WJF3;O00693;O00735;Q6IB49;Q96J54;Q99971", "ec_number_list": "", "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0044325 transmembrane transporter binding;GO:0005509 calcium ion binding;GO:0031267 small GTPase binding;GO:0043495 protein-membrane adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0001525 angiogenesis;GO:0001934 positive regulation of protein phosphorylation;GO:0002931 response to ischemia;GO:0007155 cell adhesion;GO:0008284 positive regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 13.0, "record_id": "Q99828-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H8S5-1", "uniprot_id": "CCNP_HUMAN", "mass": 33574.0, "length": 307, "protein_name": "Cyclin-P", "gene_name": "CCNP", "organism": "Human", "refseq_name": "cyclin-P isoform 2", "refseq_ac": "NP_079153", "gene_names_uniprotkb": "CCNP; CNTD2", "gene_names_refseq": "CCNP; CNTD2", "protein_names_uniprotkb": "Cyclin-P; Cyclin N-terminal domain-containing protein 2", "protein_names_refseq": "cyclin N-terminal domain containing 2; cyclin N-terminal domain-containing protein 2; cyclin-P isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:79935)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;24715725;28860486;29557506;30087414;34604945;35051231;38253038", "class_list": "", "function": "Atypical cyclin P regulates cancer cell stemness through activation of the WNT pathway., [RefSeq, PubMed]; CNTD2 is significantly upregulated in Colorectal cancer (CRC) tissue compared to the adjacent normal one. CNTD2 overexpression in CRC cell lines increases their proliferation capacity and migration, as well as spheroid formation capacity and anchorage-independent growth. Publication Status: Online-Only, [RefSeq, PubMed]; Seems to be involved in the regulation of proliferation and migration., [UniProtKB, PubMed, PubMed]; Study reports that CNTD2 is upregulated in human lung cancer tissues and correlates with worse prognosis. CNTD2 is found to be an oncogenic driver in lung cancer cell lines and mouse xenograft models. 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": 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": 3, "binding_glycan_count": 0, "secondary_ac_list": "B4DX65", "ec_number_list": "", "go_molecular_function": "GO:0016538 cyclin-dependent protein serine/threonine kinase regulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0000307 cyclin-dependent protein kinase holoenzyme complex", "go_biological_process": "GO:0000082 G1/S transition of mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q9H8S5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NQW8-1", "uniprot_id": "CNGB3_HUMAN", "mass": 92167.0, "length": 809, "protein_name": "Cyclic nucleotide-gated channel beta-3", "gene_name": "CNGB3", "organism": "Human", "refseq_name": "cyclic nucleotide-gated channel beta-3", "refseq_ac": "NP_061971", "gene_names_uniprotkb": "CNGB3", "gene_names_refseq": "ACHM1; CNGB3", "protein_names_uniprotkb": "Cyclic nucleotide-gated channel beta-3; CNG channel beta-3; Cone photoreceptor cGMP-gated channel subunit beta; Cyclic nucleotide-gated cation channel beta-3; Cyclic nucleotide-gated cation channel modulatory subunit", "protein_names_refseq": "CNG channel beta-3; cone photoreceptor cGMP-gated cation channel beta-subunit; cyclic nucleotide gated channel beta 3; cyclic nucleotide-gated cation channel modulatory subunit; cyclic nucleotide-gated channel beta-3", "tax_id": 9606, "disease": "Stargardt disease (Disease Ontology:DOID:0050817); Stargardt disease 1 (Disease Ontology:DOID:0061241); achromatopsia 3 (Disease Ontology:DOID:0110008); hypertension (Disease Ontology:DOID:10763); color blindness (Disease Ontology:DOID:13399); renal cell carcinoma (Disease Ontology:DOID:4450); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:54714)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "10888875;10958649;11237011;11764791;12357335;12730238;12815043;14757870;15657609;15712225;21878911;29769354;30484775;32488085;32938616;32983136;33968037;34703197;34969976;37158316;37372476;37463923", "class_list": "", "function": "A deep intronic substitution in CNGB3 is one of the major causes of achromatopsia among Jewish patients. Publication Status: Online-Only, [RefSeq, PubMed]; Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and CNGB3., [RefSeq, PubMed]; Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia. Publication Status: Online-Only, [RefSeq, PubMed]; NH2- and COOH-terminal calmodulin-binding sites in CNGB3 are functionally important for regulation of cyclic nucleotide-gated channel activity, [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. Conducts cGMP- and cAMP-gated ion currents, with permeability for monovalent and divalent cations., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene encodes the beta subunit of a cyclic nucleotide-gated ion channel. The encoded beta subunit appears to play a role in modulation of channel function in cone photoreceptors. This heterotetrameric channel is necessary for sensory transduction, and mutations in this gene have been associated with achromatopsia 3, progressive cone dystrophy, and juvenile macular degeneration, also known as Stargardt Disease. [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "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": "C9JA51;Q9NRE9", "ec_number_list": "2.7.11.1;1.8.-.-", "go_molecular_function": "GO:0005223 intracellularly cGMP-activated cation channel activity;GO:0005222 intracellularly cAMP-activated cation channel activity;GO:0030553 cGMP binding;GO:0005221 intracellularly cyclic nucleotide-activated monoatomic cation channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0001750 photoreceptor outer segment;GO:0017071 intracellular cyclic nucleotide activated cation channel complex;GO:1902495 transmembrane transporter complex", "go_biological_process": "GO:0007165 signal transduction;GO:0007601 visual perception;GO:0098655 monoatomic cation transmembrane transport;GO:0006812 monoatomic cation transport", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q9NQW8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y698-1", "uniprot_id": "CCG2_HUMAN", "mass": 35966.0, "length": 323, "protein_name": "Voltage-dependent calcium channel gamma-2 subunit", "gene_name": "CACNG2", "organism": "Human", "refseq_name": "voltage-dependent calcium channel gamma-2 subunit isoform 1", "refseq_ac": "NP_006069", "gene_names_uniprotkb": "CACNG2", "gene_names_refseq": "CACNG2; MRD10", "protein_names_uniprotkb": "Voltage-dependent calcium channel gamma-2 subunit; Neuronal voltage-gated calcium channel gamma-2 subunit; TARP gamma-2; Transmembrane AMPAR regulatory protein gamma-2", "protein_names_refseq": "TARP gamma-2; neuronal voltage-gated calcium channel gamma-2 subunit; stargazin; transmembrane AMPAR regulatory protein gamma-2; voltage-dependent calcium channel gamma-2 subunit isoform 1", "tax_id": 9606, "disease": "autosomal dominant intellectual developmental disorder 10 (Disease Ontology:DOID:0070040); childhood absence epilepsy (Disease Ontology:DOID:1825)", "pathway": " (hsa:10369); (R-HSA-112308); (R-HSA-399719); (R-HSA-5682910)", "pathway_count": 4, "publication_count": 20, "publication_id_list": "10221464;11805122;16990550;17387609;18311135;18628660;18974846;19968761;20162351;20220021;20461023;20805473;21376300;21829378;28411811;29557506;30122377;35776036;37491367;8825650", "class_list": "", "function": "Association between CACNG2 polymorphisms (rs4820242, rs2284015 and rs2284017) and chronic peripheral neuropathic pain risk in a Mexican population., [RefSeq, PubMed]; Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits. Thought to stabilize the calcium channel in an inactivated (closed) state., [UniProtKB, PubMed]; TARPgamma2 Is Required for Normal AMPA Receptor Expression and Function in Direction-Selective Circuits of the Mammalian Retina. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. The AMPA subtype of ionotropic glutamate receptors are ligand gated ion channels that are typically activated by glutamate released from presynaptic neuron terminals and mediate fast neurotransmission in excitatory synapses. TARPs thus play an important role in synaptic plasticity, learning and memory. Mutations in this gene cause an autosomal dominant form of cognitive disability. [provided by RefSeq, Jul 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": 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": 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": "Q2M1M1;Q5TGT3;Q9UGZ7", "ec_number_list": "", "go_molecular_function": "GO:0005245 voltage-gated calcium channel activity;GO:0035255 ionotropic glutamate receptor binding;GO:0016247 channel regulator activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0030666 endocytic vesicle membrane;GO:0032281 AMPA glutamate receptor complex", "go_biological_process": "GO:1904510 positive regulation of protein localization to basolateral plasma membrane;GO:0051592 response to calcium ion;GO:0006612 protein targeting to membrane;GO:0051968 positive regulation of synaptic transmission, glutamatergic;GO:0019226 transmission of nerve impulse", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q9Y698-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6PEX3-1", "uniprot_id": "KR261_HUMAN", "mass": 22554.0, "length": 210, "protein_name": "Keratin-associated protein 26-1", "gene_name": "KRTAP26-1", "organism": "Human", "refseq_name": "keratin-associated protein 26-1", "refseq_ac": "NP_981950", "gene_names_uniprotkb": "KRTAP26-1; KAP26.1", "gene_names_refseq": "KRTAP26-1", "protein_names_uniprotkb": "Keratin-associated protein 26-1", "protein_names_refseq": "keratin-associated protein 26-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:388818); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 11, "publication_id_list": "15373777;16382671;1691188;1694855;1714783;17521629;18647308;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": 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": "B0RZD3", "ec_number_list": "", "go_molecular_function": "GO:0005198 structural molecule activity", "go_cellular_component": "GO:0005829 cytosol;GO:0045095 keratin filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q6PEX3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y271-1", "uniprot_id": "CLTR1_HUMAN", "mass": 38541.0, "length": 337, "protein_name": "Cysteinyl leukotriene receptor 1", "gene_name": "CYSLTR1", "organism": "Human", "refseq_name": "cysteinyl leukotriene receptor 1", "refseq_ac": "NP_001269115", "gene_names_uniprotkb": "CYSLTR1; CYSLT1", "gene_names_refseq": "CYSLT1R; CYSLT1; CYSLTR1; CYSLTR; HMTMF81", "protein_names_uniprotkb": "Cysteinyl leukotriene receptor 1; CysLTR1; Cysteinyl leukotriene D4 receptor; G protein-coupled receptor HG55; HMTMF81; LTD4 receptor", "protein_names_refseq": "G-protein coupled receptor HG55; LTD4 receptor; cysteinyl leukotriene D4 receptor; cysteinyl leukotriene receptor 1", "tax_id": 9606, "disease": "obstructive sleep apnea (Disease Ontology:DOID:0050848); respiratory allergy (Disease Ontology:DOID:0060496); acute asthma (Disease Ontology:DOID:0080810); aspirin-induced respiratory disease (Disease Ontology:DOID:0080822); allergic disease (Disease Ontology:DOID:1205); asthma (Disease Ontology:DOID:2841); pulmonary fibrosis (Disease Ontology:DOID:3770); rhinitis (Disease Ontology:DOID:4483); pulmonary hypertension (Disease Ontology:DOID:6432)", "pathway": " (hsa:10800); (R-HSA-391906); (R-HSA-416476); (R-HSA-9664535); (R-HSA-9679191)", "pathway_count": 5, "publication_count": 80, "publication_id_list": "10087012;10191087;10391245;10462554;10567430;10727532;10851239;10861009;10934230;11015615;11742120;11753430;12120503;12235216;15951850;16115318;16182515;16268778;16339447;16522641;16754659;16923326;16990797;17662961;18434541;18515384;18577758;18936096;1905813;20223979;22401777;22552008;22814904;23641311;24272870;24584101;24715725;2543269;2548477;25801024;25880248;26002965;28228285;2841328;28425720;28514659;28904123;29557506;29632711;29945920;30201761;30315122;30429286;30779550;3086311;31048504;31092671;31844290;32350084;32357974;32387766;32474153;32657253;32897882;33077798;33691108;33837837;33912179;34357683;34509645;34561969;34932366;35051231;36834820;7937899;8664309;9177352;9305846;9504401;9770463", "class_list": "", "function": "Cysteinyl leukotriene receptor 1 modulates autophagic activity in retinal pigment epithelial cells. Publication Status: Online-Only, [RefSeq, PubMed]; Cysteinyl leukotriene receptor 1 promotes 5-fluorouracil resistance and resistance-derived stemness in colon cancer cells., [RefSeq, PubMed]; DNA Methylation and Gene Expression of the Cysteinyl Leukotriene Receptors as a Prognostic and Metastatic Factor for Colorectal Cancer Patients. Publication Status: Online-Only, [RefSeq, PubMed]; Methylation of cysteinyl leukotriene receptor 1 genes associates with lung function in asthmatics exposed to traffic-related air pollution., [RefSeq, PubMed]; Receptor for cysteinyl leukotrienes mediating bronchoconstriction of individuals with and without asthma. Stimulation by LTD4 results in the contraction and proliferation of smooth muscle, edema, eosinophil migration and damage to the mucus layer in the lung. This response is mediated via a G protein that activates a phosphatidylinositol-calcium second messenger system. The rank order of affinities for the leukotrienes is LTD4 >> LTE4 = LTC4 >> LTB4., [UniProtKB]; The relevance of CYSLTR1 gene polymorphism to the severity of allergic rhinitis and clinical responsiveness of montelukast in children., [RefSeq, PubMed]; This gene encodes a member of the G-protein coupled receptor 1 family. The encoded protein is a receptor for cysteinyl leukotrienes, and is involved in mediating bronchoconstriction via activation of a phosphatidylinositol-calcium second messenger system. Activation of the encoded receptor results in contraction and proliferation of bronchial smooth muscle cells, eosinophil migration, and damage to the mucus layer in the lung. Upregulation of this gene is associated with asthma and dysregulation may also be implicated in cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]., [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": 22, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 9, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B2R954;D3DTE4;Q5JS94;Q8IV19", "ec_number_list": "", "go_molecular_function": "GO:0001631 cysteinyl leukotriene receptor activity;GO:0004974 leukotriene receptor activity;GO:0004966 galanin receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006952 defense response;GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0007218 neuropeptide signaling pathway;GO:0007585 respiratory gaseous exchange by respiratory system", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q9Y271-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H3S7-1", "uniprot_id": "PTN23_HUMAN", "mass": 178974.0, "length": 1636, "protein_name": "Tyrosine-protein phosphatase non-receptor type 23", "gene_name": "PTPN23", "organism": "Human", "refseq_name": "tyrosine-protein phosphatase non-receptor type 23 isoform 2", "refseq_ac": "NP_001291411", "gene_names_uniprotkb": "PTPN23; KIAA1471", "gene_names_refseq": "HD-PTP; HDPTP; NEDBASS; PTP-TD14; PTPN23", "protein_names_uniprotkb": "Tyrosine-protein phosphatase non-receptor type 23; 3.1.3.48; HD-PTP; His domain-containing protein tyrosine phosphatase; PTP-TD14; Protein tyrosine phosphatase TD14", "protein_names_refseq": "his domain-containing protein tyrosine phosphatase; protein tyrosine phosphatase TD14; tyrosine-protein phosphatase non-receptor type 23 isoform 2", "tax_id": 9606, "disease": "neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity (MONDO:MONDO:0030046)", "pathway": " (hsa:25930); (R-HSA-9008059)", "pathway_count": 2, "publication_count": 129, "publication_id_list": "11095967;11145836;11237011;11839743;12096920;12381835;12809600;15527767;16408268;16720300;17081983;17525332;17959146;18390730;18434552;18669648;19690332;20068231;20393563;20935647;21179510;21757351;21889351;23186163;23301498;23481700;24129315;24275569;24481253;25502872;25558065;25576301;25645385;25729923;25892735;26154972;26375851;26768311;26992070;27060871;27655845;27839950;27846572;27848944;27862975;27920218;28092676;28218747;28228285;28467828;28832583;28904123;29090338;29237092;29242379;29317506;29351928;29393594;29437277;29493099;29557506;29632711;29769354;29786170;29899372;30059200;30315122;30410026;30429286;30524438;30573663;30779550;31092671;31154438;31395947;31492838;31530632;31844290;31848261;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32870666;32897882;32938616;32938750;32983136;33043033;33141586;33214551;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34185709;34357683;34433824;34586919;34725712;35051231;35138101;35154160;35251023;35289036;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37217939;37821451;37938771;38665916;38704135;39531497", "class_list": "", "function": "Data suggest that HD-PTP might participate in modulating endothelial response to angiogenic factors and play a role in regulating the complex events leading to the formation of new vessels Publication Status: Online-Only, [RefSeq, PubMed]; Interactions of ubiquitin and CHMP5 with the V domain of HD-PTP reveals role for regulation of Vps4 ATPase., [RefSeq, PubMed]; PTPN23 ubiquitination by WDR4 suppresses EGFR and c-MET degradation to define a lung cancer therapeutic target. Erratum:[Cell Death Dis. 2024 Jul 2;15(7):468. doi: 10.1038/s41419-024-06747-x. PMID: 38956428] Publication Status: Online-Only, [RefSeq, PubMed]; PTPN23[Thr] variant reduces susceptibility and tumorigenesis in esophageal squamous cell carcinoma through dephosphorylation of EGFR., [RefSeq, PubMed]; Plays a role in sorting of endocytic ubiquitinated cargos into multivesicular bodies (MVBs) via its interaction with the ESCRT-I complex (endosomal sorting complex required for transport I), and possibly also other ESCRT complexes (PubMed:18434552, PubMed:21757351). May act as a negative regulator of Ras-mediated mitogenic activity (PubMed:18434552). Plays a role in ciliogenesis (PubMed:20393563)., [UniProtKB, PubMed, PubMed, PubMed]; These results suggest that HD-PTP amounts might be regulated both at the transcriptional and post-transcriptional levels., [RefSeq, PubMed]; This gene encodes a member of the non-receptor type protein-tyrosine phosphatase family. The encoded protein may be involved in the regulation of small nuclear ribonucleo protein assembly and pre-mRNA splicing by modifying the survival motor neuron (SMN) complex. The encoded protein additionally plays a role in ciliogenesis and is part of endosomal sorting complex required for transport (ESCRT) pathways. This gene may serve a tumor suppressor function. [provided by RefSeq, Jul 2016]., [RefSeq]; We suggest that HD-PTP contributes to the regulation of endothelial motility by modulating the tyrosine phosphorylation of FAK., [RefSeq, PubMed]", "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": 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": 4, "reported_glycation": 0, "reported_snv": 36, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "A8K0D7;Q7KZF8;Q8N6Z5;Q9BSR5;Q9P257;Q9UG03;Q9UMZ4", "ec_number_list": "3.1.3.16;3.1.3.48;3.1.3.21;3.1.3.18;3.1.3.-;3.1.3.5;3.1.3.2;2.7.10.1;3.1.3.67;3.1.3.27", "go_molecular_function": "GO:0019901 protein kinase binding;GO:0004725 protein tyrosine phosphatase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005769 early endosome", "go_biological_process": "GO:0010633 negative regulation of epithelial cell migration;GO:0043328 protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway;GO:1903393 positive regulation of adherens junction organization;GO:0045022 early endosome to late endosome transport;GO:0060271 cilium assembly", "synthesized_glycan_count": 0, "hit_score": 13.8, "record_id": "Q9H3S7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y2W7-1", "uniprot_id": "CSEN_HUMAN", "mass": 29231.0, "length": 256, "protein_name": "Calsenilin", "gene_name": "KCNIP3", "organism": "Human", "refseq_name": "calsenilin isoform 2", "refseq_ac": "NP_001030086", "gene_names_uniprotkb": "KCNIP3; CSEN; DREAM; KCHIP3", "gene_names_refseq": "CSEN; DREAM; KCHIP3; KCNIP3", "protein_names_uniprotkb": "Calsenilin; A-type potassium channel modulatory protein 3; DRE-antagonist modulator; DREAM; KChIP3; Kv channel-interacting protein 3", "protein_names_refseq": "A-type potassium channel modulatory protein 3; DRE-antagonist modulator; Kv channel interacting protein 3, calsenilin; calsenilin isoform 2; calsenilin, presenilin-binding protein, EF hand transcription factor; kv channel-interacting protein 3; potassium channel interacting protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:30818); (R-HSA-5576894); (R-HSA-9768777)", "pathway_count": 3, "publication_count": 32, "publication_id_list": "10078534;10676964;10729221;11237011;11259376;11278424;11423117;11988022;12829703;12837631;14720210;14980207;15358149;15485870;16112838;16123112;16959974;17057713;17187064;17962406;18957440;21070824;24291638;27543614;28832583;33626321;34751735;35051231;35066335;37298129;37978395;9771752", "class_list": "", "function": "Calcium-dependent transcriptional repressor that binds to the DRE element of genes including PDYN and FOS. Affinity for DNA is reduced upon binding to calcium and enhanced by binding to magnesium. Seems to be involved in nociception (By similarity)., [UniProtKB, UniProtKB]; Emerging Role of DREAM in Healthy Brain and Neurological Diseases. Review article Publication Status: Online-Only, [RefSeq, PubMed]; KCNIP3 silence promotes proliferation and epithelial-mesenchymal transition of papillary thyroid carcinoma through activating Wnt/beta-catenin pathway., [RefSeq, PubMed]; Loss of p53-DREAM-mediated repression of cell cycle genes as a driver of lymph node metastasis in head and neck cancer. Publication Status: Online-Only, [RefSeq, PubMed]; May play a role in the regulation of PSEN2 proteolytic processing and apoptosis. Together with PSEN2 involved in modulation of amyloid-beta formation., [UniProtKB, PubMed, PubMed, PubMed]; Neutrophil DREAM promotes neutrophil recruitment in vascular inflammation., [RefSeq, PubMed]; PAF remodels the DREAM complex to bypass cell quiescence and promote lung tumorigenesis., [RefSeq, PubMed]; Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels, such as KCND2/Kv4.2 and KCND3/Kv4.3. Modulates channel expression at the cell membrane, gating characteristics, inactivation kinetics and rate of recovery from inactivation in a calcium-dependent and isoform-specific manner., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins, which belong to the recoverin branch of the EF-hand superfamily. Members of this family are small calcium binding proteins containing EF-hand-like domains. They are integral subunit components of native Kv4 channel complexes that may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. The encoded protein also functions as a calcium-regulated transcriptional repressor, and interacts with presenilins. Alternatively spliced transcript variants 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "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": "H7BY46;Q3YAC3;Q3YAC4;Q53TJ5;Q96T40;Q9UJ84;Q9UJ85", "ec_number_list": "", "go_molecular_function": "GO:0015459 potassium channel regulator activity;GO:0005509 calcium ion binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0005267 potassium channel activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:1901379 regulation of potassium ion transmembrane transport;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0007165 signal transduction;GO:0072659 protein localization to plasma membrane", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q9Y2W7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y2Q3-1", "uniprot_id": "GSTK1_HUMAN", "mass": 25497.0, "length": 226, "protein_name": "Glutathione S-transferase kappa 1", "gene_name": "GSTK1", "organism": "Human", "refseq_name": "glutathione S-transferase kappa 1 isoform b", "refseq_ac": "NP_001137151", "gene_names_uniprotkb": "GSTK1; HDCMD47P", "gene_names_refseq": "GST 13-13; GST13-13; GST13; GSTK1-1; GSTK1; GST; hGSTK1", "protein_names_uniprotkb": "Glutathione S-transferase kappa 1; 2.5.1.18; GST 13-13; GST class-kappa; GSTK1-1; Glutathione S-transferase subunit 13; hGSTK1", "protein_names_refseq": "GST class-kappa; glutathione S-transferase k1; glutathione S-transferase kappa 1 isoform b; glutathione S-transferase subunit 13 homolog", "tax_id": 9606, "disease": "metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); colon adenocarcinoma (Disease Ontology:DOID:234)", "pathway": " (hsa:373156); (R-HSA-156590); (R-HSA-9033241)", "pathway_count": 3, "publication_count": 159, "publication_id_list": "10022913;10329152;10562279;10587441;10673331;10783391;11101887;11230166;11237011;11327815;11546814;11781871;11904223;11931631;12042665;12211029;12456682;12559034;12578380;12627223;12717447;12885776;14709161;14742434;15545321;15858711;16081649;16298388;16548513;16854980;17007944;17726030;18359941;18712838;19197237;19208625;19413330;19584060;19608861;19632994;20068230;20083122;20085333;20178365;21106529;21554508;21668448;21976670;21980954;22002062;22057399;22371489;22522127;22747494;23162467;23481700;23963456;24235149;24714562;24865970;25016021;25538232;25576301;25645385;25854684;25892735;26086376;26138649;26154972;26220973;26344566;26728094;26992070;27597759;27846572;27862975;28218747;28228285;28467828;28521612;28611990;28765278;28787099;28855257;28904123;29242379;29393594;29437277;29493099;29557506;29769354;29789417;30410026;30429286;30779550;30833945;31020640;31092671;31154438;31844290;31848261;31998317;32157095;32161166;32350084;32387766;32938616;32983136;33043033;33123756;33298915;33592498;3372534;33936100;33968037;33981976;34087483;34171305;34357683;34509645;34561969;34932366;35051231;35154160;35251023;35561310;35580925;36010968;36215666;36241641;36284347;36328447;3770744;38430301;38665916;39894887;40914422;4768551;7719337;7790377;8182750;8203914;8331657;8431482;8703034;8812420;8824437;8858165;8991089;9090381;9090382;9090383;9278457;9539740;9551553;9653144;9668159;9837948;9839448", "class_list": "", "function": "Gene and protein characterization; its subcellular localization in peroxisomes, suggesting a new function for this family of enzymes [glutathione S-transferase kappa (hGSTK1)] GeneRIF: Presence of hGSTK1 in both peroxisomes and mitochondria. The C-terminus of hGSTK1 is essential for localization of the protein to peroxisomes, and the C-terminal sequence Ala-Arg-Leu represents a peroxisome targeting signal 1 (PTS1)., [RefSeq, PubMed]; Glutathione S-transferase that catalyzes the conjugation of glutathione to exogenous and endogenous compounds (PubMed:14709161, PubMed:14742434). Significant glutathione conjugating activity is found only with the model substrate, 1-chloro-2,4-dinitrobenzene (CDNB) (PubMed:14709161)., [UniProtKB, PubMed, PubMed]; New insights of DsbA-L in the pathogenesis of metabolic diseases. Review article, [RefSeq, PubMed]; Structure and function characterization of a GST from human breast, [RefSeq, PubMed]; This gene encodes a member of the kappa class of the glutathione transferase superfamily of enzymes that function in cellular detoxification. The encoded protein is localized to the peroxisome and catalyzes the conjugation of glutathione to a wide range of hydrophobic substates facilitating the removal of these compounds from cells. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009]., [RefSeq]; [Multifaceted Clinical Research on Obesity-related Disease Prevention Focusing on the DsbA-L 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": 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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DIH1;B4DSY2;Q6P4H0;Q7Z520;Q9P1S4", "ec_number_list": "2.5.1.18;3.6.1.-;3.6.1.77;3.1.2.2;3.1.2.27;3.1.2.1;3.1.2.11;3.1.2.3;3.1.2.5;6.2.1.3;6.2.1.-;6.2.1.7;6.2.1.24;6.2.1.15;2.3.1.42;1.3.3.6;5.2.1.2;2.3.2.27;5.3.99.2;1.1.1.42;1.11.1.6;1.11.1.-;5.3.3.-;3.4.24.56;1.4.3.3;2.6.1.51;2.6.1.44;2.3.1.176;2.3.1.16;2.3.1.155;2.3.2.36;1.14.13.39;4.1.3.4;2.3.1.137;2.3.1.7;1.20.4.2;1.8.5.1;4.4.1.20;5.3.3.21;2.3.1.65;3.4.21.-;1.5.3.13;3.4.21.53;1.4.3.1;1.1.1.184;1.3.1.38;1.3.1.124;1.1.3.15;1.5.3.1;1.5.3.7;5.1.99.4;4.1.2.63;1.2.3.5", "go_molecular_function": "GO:0004364 glutathione transferase activity;GO:0004602 glutathione peroxidase activity;GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005777 peroxisome;GO:0005782 peroxisomal matrix;GO:0005829 cytosol", "go_biological_process": "GO:0046685 response to arsenic-containing substance;GO:0001889 liver development;GO:0030855 epithelial cell differentiation;GO:0010042 response to manganese ion;GO:0006749 glutathione metabolic process", "synthesized_glycan_count": 0, "hit_score": 16.2, "record_id": "Q9Y2Q3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P00441-1", "uniprot_id": "SODC_HUMAN", "mass": 15936.0, "length": 154, "protein_name": "Superoxide dismutase [Cu-Zn]", "gene_name": "SOD1", "organism": "Human", "refseq_name": "superoxide dismutase [Cu-Zn]", "refseq_ac": "NP_000445", "gene_names_uniprotkb": "SOD1", "gene_names_refseq": "ALS1; ALS; HEL-S-44; IPOA; SOD1; SOD; STAHP; hSod1; homodimer", "protein_names_uniprotkb": "Superoxide dismutase [Cu-Zn]; 1.15.1.1; 1.8.-.-; Hydrogen sulfide oxidase; Superoxide dismutase 1; hSod1", "protein_names_refseq": "Cu/Zn superoxide dismutase; SOD, soluble; epididymis secretory protein Li 44; hydrogen sulfide oxidase; indophenoloxidase A; superoxide dismutase 1, soluble; superoxide dismutase [Cu-Zn]; superoxide dismutase, cystolic", "tax_id": 9606, "disease": "amyotrophic lateral sclerosis type 1 (Disease Ontology:DOID:0060193); atrial fibrillation (Disease Ontology:DOID:0060224); alcohol-associated liver disease (Disease Ontology:DOID:0070658); polycystic kidney disease (Disease Ontology:DOID:0080322); metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); dry eye syndrome (Disease Ontology:DOID:10140); retinitis pigmentosa (Disease Ontology:DOID:10584); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); sciatic neuropathy (Disease Ontology:DOID:11446); diabetic angiopathy (Disease Ontology:DOID:11713); newborn respiratory distress syndrome (Disease Ontology:DOID:12716); retinopathy of prematurity (Disease Ontology:DOID:13025); Behcet's disease (Disease Ontology:DOID:13241); low tension glaucoma (Disease Ontology:DOID:13544); Down syndrome (Disease Ontology:DOID:14250); Parkinson's disease (Disease Ontology:DOID:14330); hypothyroidism (Disease Ontology:DOID:1459); alcohol use disorder (Disease Ontology:DOID:1574); cystitis (Disease Ontology:DOID:1679); pancreatic cancer (Disease Ontology:DOID:1793); transient cerebral ischemia (Disease Ontology:DOID:224); motor neuron disease (Disease Ontology:DOID:231); renal artery obstruction (Disease Ontology:DOID:2972); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); coronary artery disease (Disease Ontology:DOID:3393); middle cerebral artery infarction (Disease Ontology:DOID:3525); congenital diaphragmatic hernia (Disease Ontology:DOID:3827); hyperglycemia (Disease Ontology:DOID:4195); macular degeneration (Disease Ontology:DOID:4448); nutritional deficiency disease (Disease Ontology:DOID:5113); myocardial infarction (Disease Ontology:DOID:5844); prion disease (Disease Ontology:DOID:649); progressive supranuclear palsy (Disease Ontology:DOID:678); hyperthyroidism (Disease Ontology:DOID:7998); cataract (Disease Ontology:DOID:83); diabetic retinopathy (Disease Ontology:DOID:8947); cutaneous leishmaniasis (Disease Ontology:DOID:9111); ocular hypertension (Disease Ontology:DOID:9282); type 2 diabetes mellitus (Disease Ontology:DOID:9352); type 1 diabetes mellitus (Disease Ontology:DOID:9744); spastic tetraplegia and axial hypotonia, progressive (MONDO:MONDO:0032828)", "pathway": " (hsa:6647); (R-HSA-114608); (R-HSA-3299685); (R-HSA-8950505)", "pathway_count": 4, "publication_count": 217, "publication_id_list": "10029572;10329151;10400992;10430435;10514471;10521424;10656833;10732812;10809943;10833429;10919671;10982;11018045;11139407;11220750;11237011;11369193;11507097;11518528;11535232;11886899;11912930;12145308;12210393;12402272;12446202;12754496;12829378;12911296;12963370;1435334;14506936;14630798;1463506;15044467;15046979;15056757;15064408;15280035;15297306;15317809;15326189;15596429;15927447;16038020;16291742;16401067;16406071;16615992;1668270;16750198;16880213;17070542;17275676;17377532;17519234;17548825;1763037;17707404;17888947;18301754;18358825;18378676;18552350;18669648;18703498;18936159;18948262;19219623;19542232;19608861;19741096;1999334;20068231;20070187;20230923;20367259;20460594;20600836;20690882;2071038;20727846;21081667;21215271;21220647;21247266;21385867;21393238;21967640;22493009;22496122;22869735;22905912;22910329;23152058;23164639;23454490;23455484;23613814;23625804;23640497;23719902;24140062;24275569;24283821;24647101;25047527;25502872;26297318;27604643;28467828;28514659;2853161;29242379;29314611;29508533;29557506;29632711;29741879;30037290;30192525;31020640;31086828;31292775;31314961;31324499;31332433;3160582;31611695;31844290;31958637;32157095;32162841;3223905;32350084;32938616;33592498;33936100;33968037;34019948;34078123;34171305;34357683;3457020;35051231;35154160;35251023;3532102;35561310;3619451;36215666;36241641;36284347;36630448;3693360;37394908;38896450;3889846;39126203;39351695;39455931;5389100;60;6286671;6457647;6577438;6770891;6961438;7002610;7021796;7172448;7487923;7496169;7501156;7647793;7655468;7655469;7655471;7700376;7795609;7836951;7870076;7881433;7887412;7951252;7980516;7997024;8069312;807573;8179602;8351519;8379940;8428933;8446170;8452552;8467233;8528216;8592323;8663465;8682505;8875253;8907321;8938700;8990014;9101297;9131652;9295278;9365366;9369223;9455977;9541385;9639555;9696308;9706719;9718300;9726962;9923614", "class_list": "", "function": "Clinical characterization and founder effect analysis in Chinese amyotrophic lateral sclerosis patients with SOD1 common variants., [RefSeq, PubMed]; Destroys radicals which are normally produced within the cells and which are toxic to biological systems., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; SOD1 displays antimicrobial activity against E. coli, E. faecalis, S. aureus, S. aureus MRSA LPV+, S. agalactiae, and yeast C. krusei., [RefSeq, PubMed]; SOD1 is a synthetic-lethal target in PPM1D-mutant leukemia cells. Publication Status: Online-Only, [RefSeq, PubMed]; Skeletal myotubes expressing ALS mutant SOD1 induce pathogenic changes, impair mitochondrial axonal transport, and trigger motoneuron death. Publication Status: Online-Only, [RefSeq, PubMed]; SoDCoD: a comprehensive database of Cu/Zn superoxide dismutase conformational diversity caused by ALS-linked gene mutations and other perturbations., [RefSeq, PubMed]; The protein encoded by this gene binds copper and zinc ions and is one of two isozymes responsible for destroying free superoxide radicals in the body. The encoded isozyme is a soluble cytoplasmic protein, acting as a homodimer to convert naturally-occuring but harmful superoxide radicals to molecular oxygen and hydrogen peroxide. The other isozyme is a mitochondrial protein. In addition, this protein contains an antimicrobial peptide that displays antibacterial, antifungal, and anti-MRSA activity against E. coli, E. faecalis, S. aureus, S. aureus MRSA LPV+, S. agalactiae, and yeast C. krusei. Mutations in this gene have been implicated as causes of familial amyotrophic lateral sclerosis. Rare transcript variants have been reported for this gene. [provided by RefSeq, Jul 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": 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": 5, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 1, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 42, "glyco_site_count": 1, "binding_glycan_count": 1, "secondary_ac_list": "A6NHJ0;D3DSE4;Q16669;Q16711;Q16838;Q16839;Q16840;Q6NR85", "ec_number_list": "3.1.30.-;1.8.-.-;1.15.1.1;3.6.5.-;1.11.1.-;1.7.-.-;1.14.12.-;2.7.11.1", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0051087 protein-folding chaperone binding;GO:0031267 small GTPase 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:0034465 response to carbon monoxide;GO:0033081 regulation of T cell differentiation in thymus;GO:0008090 retrograde axonal transport;GO:0000303 response to superoxide;GO:0007283 spermatogenesis", "synthesized_glycan_count": 0, "hit_score": 22.3, "record_id": "P00441-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P78329-1", "uniprot_id": "CP4F2_HUMAN", "mass": 59853.0, "length": 520, "protein_name": "Cytochrome P450 4F2", "gene_name": "CYP4F2", "organism": "Human", "refseq_name": "cytochrome P450 4F2 precursor", "refseq_ac": "NP_001073", "gene_names_uniprotkb": "CYP4F2", "gene_names_refseq": "CPF2; CYP4F2", "protein_names_uniprotkb": "Cytochrome P450 4F2; 1.14.14.1; 1.14.14.78; 1.14.14.79; 1.14.14.94; 20-HETE synthase; 20-hydroxyeicosatetraenoic acid synthase; Arachidonic acid omega-hydroxylase; CYPIVF2; Cytochrome P450-LTB-omega; Docosahexaenoic acid omega-hydroxylase; Leukotriene-B(4) 20-monooxygenase 1; Leukotriene-B(4) omega-hydroxylase 1; Phylloquinone omega-hydroxylase CYP4F2", "protein_names_refseq": "20-HETE synthase; 20-hydroxyeicosatetraenoic acid synthase; CYPIVF2; arachidonic acid omega-hydroxylase; cytochrome P450 4F2 precursor; cytochrome P450 4F2; cytochrome P450, family 4, subfamily F, polypeptide 2; cytochrome P450, subfamily IVF, polypeptide 2; cytochrome P450-LTB-omega; docosahexaenoic acid omega-hydroxylase; leukotriene-B(4) 20-monooxygenase 1; leukotriene-B(4) omega-hydroxylase 1; phylloquinone omega-hydroxylase CYP4F2", "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); warfarin resistance (Disease Ontology:DOID:0080665); hypertension (Disease Ontology:DOID:10763); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); 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:8529); (R-HSA-211935); (R-HSA-211958); (R-HSA-211979); (R-HSA-2142691); (R-HSA-2142816)", "pathway_count": 6, "publication_count": 99, "publication_id_list": "10.1101/2023.09.13.557529;10064732;10405341;10492403;10660572;10779545;10791960;10833273;10860554;11160876;11162607;11237011;11844797;11997390;12432928;12711469;1359745;14660610;15006160;15145985;15258110;15548719;15604543;15611369;16436457;16547005;16677611;16795963;17341693;18065749;18182499;18184802;18250228;1848634;18574070;18577768;18647347;19207028;19270263;19297519;19743890;20436887;20555338;20861217;21447318;23076889;23132553;23481700;24138531;27046942;2753893;2768222;28228285;2836406;2864155;2866075;2877850;2882965;29133059;29557506;2995393;3006030;3020588;30669;31154438;3118366;3164719;31844290;32938616;33592498;33981976;34185709;35051231;35580925;3563417;36284347;37121548;37161313;37505171;37653796;37775333;3933675;6122208;6293969;6490615;7937884;8026587;8052639;8394361;8576264;8631948;8913342;8914854;9435160;9461497;9539102;9600267;9618440;9799565", "class_list": "", "function": "A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids, eicosanoids and vitamins (PubMed:10660572, PubMed:10833273, PubMed:11997390, PubMed:17341693, PubMed:18574070, PubMed:18577768). 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 predominantly the oxidation of the terminal carbon (omega-oxidation) of long- and very long-chain fatty acids. Displays high omega-hydroxylase activity toward polyunsaturated fatty acids (PUFAs) (PubMed:18577768). Participates in the conversion of arachidonic acid to omega-hydroxyeicosatetraenoic acid (20-HETE), a signaling molecule acting both as vasoconstrictive and natriuretic with overall effect on arterial blood pressure (PubMed:10660572, PubMed:17341693, PubMed:18574070). Plays a role in the oxidative inactivation of eicosanoids, including both pro-inflammatory and anti-inflammatory mediators such as leukotriene B4 (LTB4), lipoxin A4 (LXA4), and several HETEs (PubMed:10660572, PubMed:10833273, PubMed:17341693, PubMed:18574070, PubMed:18577768, PubMed:8026587, PubMed:9799565). Catalyzes omega-hydroxylation of 3-hydroxy fatty acids (PubMed:18065749). Converts monoepoxides of linoleic acid leukotoxin and isoleukotoxin to omega-hydroxylated metabolites (PubMed:15145985). Contributes to the degradation of very long-chain fatty acids (VLCFAs) by catalyzing successive omega-oxidations and chain shortening (PubMed:16547005, PubMed:18182499). Plays an important role in vitamin metabolism by chain shortening. Catalyzes omega-hydroxylation of the phytyl chain of tocopherols (forms of vitamin E), with preference for gamma-tocopherols over alpha-tocopherols, thus promoting retention of alpha-tocopherols in tissues (PubMed:11997390). 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:19297519, PubMed:24138531)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Association among VKORC1 rs9923231, CYP4F2 rs2108622, GGCX rs11676382 polymorphisms and acute ischemic stroke., [RefSeq, PubMed]; CYP4F2 is a human-specific determinant of circulating N-acyl amino acid levels., [RefSeq, PubMed]; Computational analysis of missense variant CYP4F2*3 (V433M) in association with human CYP4F2 dysfunction: a functional and structural impact. Publication Status: Online-Only, [RefSeq, PubMed]; Frequency of polymorphisms in the CYP2C9, VKORC1, and CYP4F2 genes related to the metabolism of Warfarin in healthy donors from Cali, Colombia., [RefSeq, PubMed]; Functional Characterization of 29 Cytochrome P450 4F2 Variants Identified in a Population of 8380 Japanese Subjects and Assessment of Arachidonic Acid omega-Hydroxylation., [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. 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, CYP4F11, is approximately 16 kb away. [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": 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": 24, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 28, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0A024R7K3;A8K425;B4DV75;Q16677;Q6NWT4;Q6NWT6;Q9NNZ0;Q9UIU8", "ec_number_list": "1.14.14.1;4.2.1.152;1.14.13.n7;1.14.14.55;1.14.14.56;1.14.14.73;1.14.14.-;1.14.14.51;1.14.14.52;1.14.14.53;1.14.14.75;1.14.14.78;1.14.14.79;1.14.14.94;1.14.14.80;1.14.14.177;1.14.14.130", "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:0008392 arachidonate epoxygenase activity;GO:0004497 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:0006690 icosanoid metabolic process;GO:0097267 omega-hydroxylase P450 pathway;GO:0000038 very long-chain fatty acid metabolic process;GO:0001676 long-chain fatty acid metabolic process;GO:0003091 renal water homeostasis", "synthesized_glycan_count": 0, "hit_score": 10.2, "record_id": "P78329-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TCG5-1", "uniprot_id": "CPT1C_HUMAN", "mass": 90989.0, "length": 803, "protein_name": "Palmitoyl thioesterase CPT1C", "gene_name": "CPT1C", "organism": "Human", "refseq_name": "palmitoyl thioesterase CPT1C isoform 1", "refseq_ac": "NP_001129524", "gene_names_uniprotkb": "CPT1C; CATL1", "gene_names_refseq": "CATL1; CPT I-C; CPT1-B; CPT1C; CPT1P; CPTI-B; CPTIC; SPG73", "protein_names_uniprotkb": "Palmitoyl thioesterase CPT1C; 3.1.2.22; CPT I-C; CPTI-B; Carnitine O-palmitoyltransferase 1, brain isoform; Carnitine palmitoyltransferase 1C; Carnitine palmitoyltransferase I", "protein_names_refseq": "carnitine palmitoyltransferase I related C; palmitoyl thioesterase CPT1C isoform 1; palmitoyl thioesterase CPT1C", "tax_id": 9606, "disease": "hereditary spastic paraplegia 73 (Disease Ontology:DOID:0110818)", "pathway": " (hsa:126129)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11237011;12376098;16651524;21961029;24037959;25751282;26708865;26992070;30135643;32387766;32938616;33592498;33968037;35051231;35580925;36010968;36693836;37151873;37938771;38783346;38996932", "class_list": "", "function": "APC/C-regulated CPT1C promotes tumor progression by upregulating the energy supply and accelerating the G1/S transition. Publication Status: Online-Only, [RefSeq, PubMed]; Data suggest that an involvement of CPT1C in cellular energy-sensing pathways and provide evidence for a role of CPT1C in hypothalamic regulation of energy homeostasis., [RefSeq, PubMed]; Metabolic Flux Analysis Reveals the Roles of Stearate and Oleate on CPT1C-mediated Tumor Cell Senescence. Publication Status: Online-Only, [RefSeq, PubMed]; Palmitoyl thioesterase specifically expressed in the endoplasmic reticulum of neurons. Modulates the trafficking of the glutamate receptor, AMPAR, to plasma membrane through depalmitoylation of GRIA1 (PubMed:30135643). Also regulates AMPR trafficking through the regulation of SACM1L phosphatidylinositol-3-phosphatase activity by interaction in a malonyl-CoA dependent manner (By similarity). Binds malonyl-CoA and couples malonyl-CoA to ceramide levels, necessary for proper spine maturation and contributing to systemic energy homeostasis and appetite control (PubMed:16651524). Binds to palmitoyl-CoA, but does not have carnitine palmitoyltransferase 1 catalytic activity or at very low levels (PubMed:25751282, PubMed:30135643)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; The YY1-CPT1C signaling axis modulates the proliferation and metabolism of pancreatic tumor cells under hypoxia., [RefSeq, PubMed]; This gene encodes a member of the carnitine/choline acetyltransferase family. The encoded protein regulates the beta-oxidation and transport of long-chain fatty acids into mitochondria, and may play a role in the regulation of feeding behavior and whole-body energy homeostasis. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]., [RefSeq]; To be or not to be a fat burner, that is the question for cpt1c in cancer cells. Review article 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": 3, "reported_glycation": 0, "reported_snv": 19, "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": "A8K0Z8;Q5K6N5;Q8N6Q9;Q8NDS6;Q8TE84", "ec_number_list": "3.1.2.22;2.3.1.-;3.1.2.-;2.3.1.21;2.3.1.137;2.3.1.7;3.1.2.2;3.4.-.-;3.4.19.12;3.1.1.93", "go_molecular_function": "GO:0008474 palmitoyl-(protein) hydrolase activity;GO:0016746 acyltransferase activity;GO:0003824 catalytic activity;GO:0016747 acyltransferase activity, transferring groups other than amino-acyl groups;GO:0016740 transferase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005783 endoplasmic reticulum;GO:0030424 axon;GO:0030425 dendrite;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006631 fatty acid metabolic process;GO:0009437 carnitine metabolic process;GO:0099072 regulation of postsynaptic membrane neurotransmitter receptor levels;GO:0006635 fatty acid beta-oxidation", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q8TCG5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7L576-1", "uniprot_id": "CYFP1_HUMAN", "mass": 145182.0, "length": 1253, "protein_name": "Cytoplasmic FMR1-interacting protein 1", "gene_name": "CYFIP1", "organism": "Human", "refseq_name": "cytoplasmic FMR1-interacting protein 1 isoform b", "refseq_ac": "NP_001028200", "gene_names_uniprotkb": "CYFIP1; KIAA0068", "gene_names_refseq": "CYFIP1; P140SRA-1; SHYC; SRA-1; SRA1", "protein_names_uniprotkb": "Cytoplasmic FMR1-interacting protein 1; Specifically Rac1-associated protein 1; Sra-1; p140sra-1", "protein_names_refseq": "cytoplasmic FMR1-interacting protein 1 isoform b; cytoplasmic FMRP interacting protein 1; selective hybridizing clone; specifically Rac1-associated protein 1", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); chromosome 15q11.2 deletion syndrome (Disease Ontology:DOID:0060393); Schaaf-Yang syndrome (Disease Ontology:DOID:0111715); temporal lobe epilepsy (Disease Ontology:DOID:3328); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:23191); (R-HSA-2029482); (R-HSA-4420097); (R-HSA-5663213); (R-HSA-6798695); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013408); (R-HSA-9013423); (R-HSA-9664422)", "pathway_count": 10, "publication_count": 456, "publication_id_list": 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"class_list": "", "function": "Component of the CYFIP1-EIF4E-FMR1 complex which binds to the mRNA cap and mediates translational repression. In the CYFIP1-EIF4E-FMR1 complex this subunit is an adapter between EIF4E and FMR1. Promotes the translation repression activity of FMR1 in brain probably by mediating its association with EIF4E and mRNA (By similarity). Regulates formation of membrane ruffles and lamellipodia. Plays a role in axon outgrowth. Binds to F-actin but not to RNA. Part of the WAVE complex that regulates actin filament reorganization via its interaction with the Arp2/3 complex. Actin remodeling activity is regulated by RAC1. Regulator of epithelial morphogenesis. As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes (By similarity). May act as an invasion suppressor in cancers., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Cytoplasmic FMR1 interacting protein (CYFIP) family members and their function in neural development and disorders. Review article, [RefSeq, PubMed]; Different dysregulations of CYFIP1 and CYFIP2 in distinct types of dementia., [RefSeq, PubMed]; Integrated machine learning-driven disulfidptosis profiling: CYFIP1 and EMILIN1 as therapeutic nodes in neuroblastoma. Publication Status: Online-Only, [RefSeq, PubMed]; Located in the genomic domain between break points 1 and 2 on chromosome 15, of the Prader-Willi/Angelman syndromes, [RefSeq, PubMed]; Loss of Function in the Neurodevelopmental Disease and Schizophrenia-Associated Gene CYFIP1 in Human Microglia-like Cells Supports a Functional Role in Synaptic Engulfment., [RefSeq, PubMed]; This gene encodes a protein that regulates cytoskeletal dynamics and protein translation. The encoded protein is a component of the WAVE regulatory complex (WRC), which promotes actin polymerization. This protein also interacts with the synaptic functional regulator FMR1 protein and translation initiation factor 4E to inhibit protein translation. A large chromosomal deletion including this gene is associated with increased risk of schizophrenia and epilepsy in human patients. Reduced expression of this gene has been observed in various human cancers and the encoded protein may inhibit tumor invasion. [provided by RefSeq, Mar 2022]., [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": 5, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 5, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K6D9;Q14467;Q5IED0;Q6ZSX1;Q9BSD9;Q9BVC7", "ec_number_list": "", "go_molecular_function": "GO:0051015 actin filament binding;GO:0031267 small GTPase binding;GO:0030371 translation repressor activity;GO:0000340 RNA 7-methylguanosine cap binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005829 cytosol;GO:0005925 focal adhesion;GO:0030027 lamellipodium;GO:0034774 secretory granule lumen", "go_biological_process": "GO:0006417 regulation of translation;GO:0050890 cognition;GO:0000902 cell morphogenesis;GO:0016601 Rac protein signal transduction;GO:0051388 positive regulation of neurotrophin TRK receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 46.1, "record_id": "Q7L576-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z4N8-1", "uniprot_id": "P4HA3_HUMAN", "mass": 61126.0, "length": 544, "protein_name": "Prolyl 4-hydroxylase subunit alpha-3", "gene_name": "P4HA3", "organism": "Human", "refseq_name": "prolyl 4-hydroxylase subunit alpha-3 isoform 2 precursor", "refseq_ac": "NP_001275677", "gene_names_uniprotkb": "P4HA3; PRO1374", "gene_names_refseq": "P4HA3", "protein_names_uniprotkb": "Prolyl 4-hydroxylase subunit alpha-3; 1.14.11.2; 4-PH alpha-3; Procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-3", "protein_names_refseq": "4-PH alpha-3; C-P4H alpha III; collagen prolyl 4-hydroxylase alpha(III); procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III; prolyl 4-hydroxylase subunit alpha-3 isoform 2 precursor; prolyl 4-hydroxylase, alpha polypeptide III", "tax_id": 9606, "disease": "", "pathway": " (hsa:283208); (R-HSA-1650814); (R-HSA-9918432)", "pathway_count": 3, "publication_count": 57, "publication_id_list": "10.1101/2023.09.13.557529;10228156;10479448;10934207;11237011;12473679;12475640;12646579;12874193;12975309;1323838;14500733;15044469;1577494;16591531;16885164;18487197;19075007;19693541;20470363;21878990;21967573;2543975;26208004;27383988;28228593;29557506;29786170;30198421;30833945;3173483;32157095;32161166;32502341;32539762;32938616;33981976;34171305;34387118;34959098;35051231;35215835;35433237;35580925;36241641;36284347;36588128;38793607;3905801;3938630;6307276;6809411;710450;9054364;9545296;9560306;9582318", "class_list": "", "function": "Age-associated genes in human mammary gland drive human breast cancer progression. Publication Status: Online-Only, [RefSeq, PubMed]; Analysis of collagen prolyl 4-hydroxylase isoenzyme 3, its expression and catalytic properties, [RefSeq, PubMed]; Based on findings above, we infer that P4HA3 is epigenetically activated by Slug, and its deregulation is associated with enhanced metastasis and poor survival of gastric cancer., [RefSeq, PubMed]; Catalyzes the post-translational formation of 4-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins., [UniProtKB, PubMed, PubMed]; HIF-P4H, HIF-1alpha and HIF-2alpha are effective oxygen sensors, [RefSeq, PubMed]; MiR-1266-3p Suppresses Epithelial-Mesenchymal Transition in Colon Cancer by Targeting P4HA3. Publication Status: Online-Only, [RefSeq, PubMed]; P4HA3 promotes clear cell renal cell carcinoma progression via the PI3K/AKT/GSK3beta pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Prognostic and diagnostic roles of prolyl 4-hydroxylase subunit alpha members in breast cancer., [RefSeq, PubMed]; Prolyl 4-hydroxylase subunit alpha 3 facilitates human colon cancer growth and metastasis through the TGF-beta/Smad signaling pathway., [RefSeq, PubMed]; This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. 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": 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": 16, "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": "A0AV13;B4DUD3;Q5EBL3;Q5JPA9", "ec_number_list": "1.14.11.2;5.3.4.1", "go_molecular_function": "GO:0005506 iron ion binding;GO:0031418 L-ascorbic acid binding;GO:0004656 procollagen-proline 4-dioxygenase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen", "go_biological_process": "GO:0030199 collagen fibril organization", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q7Z4N8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13308-1", "uniprot_id": "PTK7_HUMAN", "mass": 118392.0, "length": 1070, "protein_name": "Inactive tyrosine-protein kinase 7", "gene_name": "PTK7", "organism": "Human", "refseq_name": "inactive tyrosine-protein kinase 7 isoform e", "refseq_ac": "NP_001257327", "gene_names_uniprotkb": "PTK7; CCK4", "gene_names_refseq": "CCK-4; CCK4; PTK7", "protein_names_uniprotkb": "Inactive tyrosine-protein kinase 7; CCK-4; Colon carcinoma kinase 4; Protein-tyrosine kinase 7; Pseudo tyrosine kinase receptor 7; Tyrosine-protein kinase-like 7", "protein_names_refseq": "PTK7 protein tyrosine kinase 7; colon carcinoma kinase 4; inactive tyrosine-protein kinase 7 isoform e; inactive tyrosine-protein kinase 7; pseudo tyrosine kinase receptor 7; tyrosine-protein kinase-like 7", "tax_id": 9606, "disease": "scoliosis (Disease Ontology:DOID:0060249); idiopathic scoliosis (Disease Ontology:DOID:0060250)", "pathway": " (hsa:5754)", "pathway_count": 1, "publication_count": 77, "publication_id_list": "37268159;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;11237011;12427550;12754519;17344846;18471990;19159218;19349973;20558616;20837484;21103379;21132015;22869377;23345538;23719902;24107129;24190977;25502872;25576301;25645385;25813380;26154972;26375851;26992070;27543614;27600516;27846572;28832583;28834231;29242379;29331515;29391424;29557506;29632046;29741879;29786170;29789417;31020640;31844290;32119511;32157095;32350084;32488085;32502341;32619402;32897882;32938616;33141586;33214551;33392160;33537174;33592498;33936100;33968037;33981976;34019948;34171305;34185709;34433824;35051231;35154160;35251023;35318648;35580925;36010968;36284347;37074911;37569547;37938771;38665916;38708542;38740744;39531497;7478540;8882711", "class_list": "", "function": "Cloning, sequencing and expression of gene and its splice variants, [RefSeq, PubMed]; Elucidating the Functional Mechanism of PTK7 in Cancer Development through Spatial Assembly Analysis Using Super Resolution Imaging., [RefSeq, PubMed]; FOXP4-mediated induction of PTK7 activates the Wnt/beta-catenin pathway and promotes ovarian cancer development. Publication Status: Online-Only, [RefSeq, PubMed]; Inactive tyrosine kinase involved in the Wnt signaling pathway. Component of both the non-canonical (also known as the Wnt/planar cell polarity signaling) and the canonical Wnt signaling pathways. Functions in cell adhesion, cell migration, cell polarity, proliferation, actin cytoskeleton reorganization and apoptosis. Has a role in embryogenesis, epithelial tissue organization and angiogenesis. Does not bind ATP (PubMed:24107129, PubMed:32619402)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Knockdown of PTK7 Reduces the Oncogenic Potential of Breast Cancer Cells by Impeding Receptor Tyrosine Kinase Signaling. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the receptor protein tyrosine kinase family of proteins that transduce extracellular signals across the cell membrane. The encoded protein lacks detectable catalytic tyrosine kinase activity, is involved in the Wnt signaling pathway and plays a role in multiple cellular processes including polarity and adhesion. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 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": 9, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 8, "reported_o_glycosites_with_glycan": 4, "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": 2, "reported_phosphosites": 1, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 35, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 77, "disease_count": 2, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "A8K974;B7Z477;E9PFZ5;Q13417;Q5T650;Q6IQ54;Q8NFA5;Q8NFA6;Q8NFA7;Q8NFA8", "ec_number_list": "", "go_molecular_function": "GO:0004672 protein kinase activity;GO:0005524 ATP binding;GO:0015026 coreceptor activity;GO:0008046 axon guidance receptor activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0005925 focal adhesion;GO:0030424 axon;GO:0043025 neuronal cell body", "go_biological_process": "GO:0007165 signal transduction;GO:0010976 positive regulation of neuron projection development;GO:0016477 cell migration;GO:0050808 synapse organization;GO:0071300 cellular response to retinoic acid", "synthesized_glycan_count": 0, "hit_score": 16.8, "record_id": "Q13308-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P24903-1", "uniprot_id": "CP2F1_HUMAN", "mass": 55501.0, "length": 491, "protein_name": "Cytochrome P450 2F1", "gene_name": "CYP2F1", "organism": "Human", "refseq_name": "cytochrome P450 2F1", "refseq_ac": "NP_000765", "gene_names_uniprotkb": "CYP2F1", "gene_names_refseq": "C2F1; CYP2F1; CYP2F; CYPIIF1", "protein_names_uniprotkb": "Cytochrome P450 2F1; 1.14.14.1; CYPIIF1", "protein_names_refseq": "cytochrome P450 2F1; cytochrome P450, family 2, subfamily F, polypeptide 1; cytochrome P450, subfamily IIF, polypeptide 1; flavoprotein-linked monooxygenase; microsomal monooxygenase; xenobiotic monooxygenase", "tax_id": 9606, "disease": "ovarian dysgenesis 1 (Disease Ontology:DOID:0080493); 46 XX gonadal dysgenesis (Disease Ontology:DOID:14450); granulosa cell tumor (Disease Ontology:DOID:2999); ovarian hyperstimulation syndrome (Disease Ontology:DOID:5425)", "pathway": " (hsa:1572); (R-HSA-211935); (R-HSA-211981); (R-HSA-211999)", "pathway_count": 4, "publication_count": 45, "publication_id_list": "10383923;10731522;10741631;11162607;11237011;11701230;11827709;12464245;12629583;15006160;15196988;15365656;15454734;15665333;16359177;1664256;17327131;19343046;1974816;20198857;2025243;22232929;22397853;29171455;35051231;37938771;497175;6220203;7217086;7903454;8558432;8619884;8627510;8631948;8637342;8647857;8913342;8914854;8975785;9028626;9103523;9600267;9644715;9842986;9884161", "class_list": "", "function": "Association analysis of CYP2F1 gene insertion variant with chronic obstructive pulmonary disease have shown high frequency (87.5%) of normal allele in Tatars patients with very severe stage and manifestation of chronic obstructive pulmonary disease. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; May be involved in the metabolism of various pneumotoxicants including naphthalene. Is able to dealkylate ethoxycoumarin, propoxycoumarin, and pentoxyresorufin but possesses no activity toward ethoxyresorufin and only trace dearylation activity toward benzyloxyresorufin. Bioactivates 3-methylindole (3MI) by dehydrogenation to the putative electrophile 3-methylene-indolenine., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Patients with occupational chronic bronchitis and healthy workers significantly differed from each other in the frequency distribution of the genotypes ofthe CYP2F1 (rs11399890, c.14_15insC, [RefSeq, PubMed]; Polymorphism of cytochrome P-4502E1 (CYP2E1) genotype is an important criterion for the development of hepatotoxicity before and during TB treatment., [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 is known to dehydrogenate 3-methylindole, an endogenous toxin derived from the fermentation of tryptophan, as well as xenobiotic substrates such as naphthalene and ethoxycoumarin. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]., [RefSeq]; Tissue distribution of transgenic mRNA expression agrees well with the known respiratory tract-selective expression of CYP2A13 and CYP2F1 and hepatic expression of CYP2B6 in humans., [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": 12, "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": "A7KAU6;A7KAU7;A7KAU8;A7KAU9;A7KAV0;Q32MN5;Q8WWJ2", "ec_number_list": "1.14.14.1;4.2.1.152;1.14.13.n7;1.14.14.55;1.14.14.56;1.14.14.73;1.14.14.-;1.14.14.51;1.14.14.52;1.14.14.53;1.14.13.-;1.14.14.75;5.4.4.7;1.14.14.74;1.14.14.78;1.14.14.79;1.14.14.94;1.14.14.80;1.14.14.130;5.3.99.5", "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:0008392 arachidonate epoxygenase activity;GO:0004497 monooxygenase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0043231 intracellular membrane-bounded organelle;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006805 xenobiotic metabolic process;GO:0019373 epoxygenase P450 pathway;GO:1901170 naphthalene catabolic process", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "P24903-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P00167-1", "uniprot_id": "CYB5_HUMAN", "mass": 15330.0, "length": 134, "protein_name": "Cytochrome b5", "gene_name": "CYB5A", "organism": "Human", "refseq_name": "cytochrome b5 isoform 3", "refseq_ac": "NP_001177736", "gene_names_uniprotkb": "CYB5A; CYB5", "gene_names_refseq": "CYB5A; CYB5; MCB5; METAG", "protein_names_uniprotkb": "Cytochrome b5; MCB5; Microsomal cytochrome b5 type A", "protein_names_refseq": "cytochrome b5 isoform 3; cytochrome b5 type A (microsomal); epididymis secretory sperm binding protein; type 1 cyt-b5", "tax_id": 9606, "disease": "methemoglobinemia and ambiguous genitalia (Disease Ontology:DOID:0112316); methemoglobinemia (Disease Ontology:DOID:10783); pyelonephritis (Disease Ontology:DOID:11400); stomatitis (Disease Ontology:DOID:9637)", "pathway": " (hsa:1528); (R-HSA-196836)", "pathway_count": 2, "publication_count": 53, "publication_id_list": "10471399;10556483;10556521;10783391;10862609;11237011;11396616;15970797;1712589;20080843;22170710;23481700;24715725;25880248;25892735;2752049;28832583;29242379;29493099;29508533;29557506;3178851;31844290;32157095;32350084;32357974;32387766;32938616;32983136;33141586;33298915;33968037;34019948;34171305;34357683;34509645;35051231;35436854;35580925;35889429;37289314;38041394;38280431;38665916;4030743;4770377;4993957;5062820;7668255;7733981;8168836;8513896;9228080", "class_list": "", "function": "An alternative CYB5A transcript is expressed in aneuploid ALL and enriched in relapse. Publication Status: Online-Only, [RefSeq, PubMed]; Cytochrome b5 is a membrane-bound hemoprotein functioning as an electron carrier for several membrane-bound oxygenases., [UniProtKB]; Proteomics, modeling, and fluorescence assays delineate cytochrome b5 residues involved in binding and stimulation of cytochrome P450 17A1 17,20-lyase., [RefSeq, PubMed]; Regulating Effect of Cytochrome b5 Overexpression on Human Breast Cancer Cells. Publication Status: Online-Only, [RefSeq, PubMed]; The N-terminal intrinsically disordered region of Ncb5or docks with the cytochrome b5 core to form a helical motif that is of ancient origin., [RefSeq, PubMed]; The association between CYB5A gene rs1790834 polymorphism and clinical improvement after 6 months of leflunomide treatment in women with rheumatoid arthritis., [RefSeq, PubMed]; The protein encoded by this gene is a membrane-bound cytochrome that reduces ferric hemoglobin (methemoglobin) to ferrous hemoglobin, which is required for stearyl-CoA-desaturase activity. Defects in this gene are a cause of type IV hereditary methemoglobinemia. Three transcript variants encoding different isoforms 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": 1, "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": "A8MV91;F8WEU4;Q6IB14", "ec_number_list": "", "go_molecular_function": "GO:0019899 enzyme binding;GO:0046872 metal ion binding;GO:0020037 heme binding", "go_cellular_component": "GO:0005741 mitochondrial outer membrane;GO:0005829 cytosol;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "P00167-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NQC7-1", "uniprot_id": "CYLD_HUMAN", "mass": 107316.0, "length": 956, "protein_name": "Ubiquitin carboxyl-terminal hydrolase CYLD", "gene_name": "CYLD", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase CYLD isoform 2", "refseq_ac": "NP_001035814", "gene_names_uniprotkb": "CYLD; CYLD1; HSPC057; KIAA0849", "gene_names_refseq": "BRSS; CDMT; CYLD1; CYLDI; CYLD; EAC; FTDALS8; MFT1; MFT; SBS; TEM; USPL2", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase CYLD; 3.4.19.12; Deubiquitinating enzyme CYLD; Ubiquitin thioesterase CYLD; Ubiquitin-specific-processing protease CYLD", "protein_names_refseq": "cylindromatosis (turban tumor syndrome); deubiquitinating enzyme CYLD; probable ubiquitin carboxyl-terminal hydrolase CYLD; ubiquitin carboxyl-terminal hydrolase CYLD isoform 2; ubiquitin specific peptidase like 2; ubiquitin thioesterase CYLD; ubiquitin thiolesterase CYLD; ubiquitin-specific-processing protease CYLD", "tax_id": 9606, "disease": "Brooke-Spiegler syndrome (Disease Ontology:DOID:0050693); multiple familial trichoepithelioma 1 (Disease Ontology:DOID:0061187); familial cylindromatosis (MONDO:MONDO:0007565); frontotemporal dementia and/or amyotrophic lateral sclerosis 8 (MONDO:MONDO:0030872)", "pathway": " (hsa:1540); (R-HSA-168638); (R-HSA-5357786); (R-HSA-5357905); (R-HSA-5357956); (R-HSA-5689880); (R-HSA-936440)", "pathway_count": 7, "publication_count": 265, "publication_id_list": "10224040;10329646;10444327;10521396;10702308;10835629;10837247;10982817;11087742;11098060;11181075;11237011;11427719;11460167;11566882;11577081;11923872;12167698;12190880;12514169;12527755;12709429;12721308;12791997;12796777;12887920;12917689;12917690;12917691;12950348;14514672;14632188;14633987;14661020;14676304;14716293;15024054;15053880;15258597;15327770;15341735;15620648;15854031;15870263;15916963;16214042;16260783;16282325;16307661;16603398;16682944;16699525;16715065;16829951;16829952;16901786;16922728;16953224;16964248;17047224;17081983;17290220;17303577;17314102;17443180;17495026;17496917;17562858;17702576;17873522;17980597;17981138;17991829;18057259;18079694;18172164;18178551;18200010;18222923;18313383;18467330;18632802;18636086;18669648;18991276;19015242;19125153;19135894;19188362;19194280;19278658;19289468;19363159;19398555;19416807;19424180;19481526;19535145;19838211;19874889;19881509;19893491;19893624;19910467;20005846;20096447;20185725;20194890;20219915;20227366;20228808;20300203;20304918;20368735;20385093;20434986;20501646;21235526;21239494;21362556;21408173;21571647;21596315;21659512;21849505;21962518;22029577;22085928;22128162;22179575;22216260;22297296;22435550;22645359;22848449;23159851;23186163;23313255;23338750;23395819;23481700;23486064;23746843;23824326;23825189;24056413;24098568;24246475;24260525;24275569;24323043;24493797;24614225;24726323;24726327;24896179;24961988;25134987;25197364;25305019;25565632;25576301;25578727;25880248;25892735;26154972;26344099;26670046;26768311;26811146;26900751;26929215;26992070;26997266;27307491;27458237;27545878;27552911;27591049;27746020;27846572;27920218;28228285;28506461;28832583;28904123;28920952;28920954;29242379;29291351;29317506;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29642005;29755980;29786170;29789417;30146158;30315122;30361438;30420664;30779550;30988283;31154438;31366726;31511692;31530632;31844290;31848261;31998317;32024820;32157095;32161166;32185393;32320653;32350084;32357974;32387766;32411667;32502341;32666117;32897882;32938616;32983136;33141586;33298915;33469115;33592498;33633747;33912179;33936100;33968037;34162724;34211107;34357683;34363755;34405274;34497368;34509645;34876703;35051231;35154160;35251023;35580925;35941131;35958947;36215666;37938771;38287022;38319288;38579060;39122678;39259342;7531702;7578059;7667287;9049422;9065443;9430721;9744859", "class_list": "", "function": "CYLD induces high oxidative stress and DNA damage through class I HDACs to promote radiosensitivity in nasopharyngeal carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Cyld restrains the hyperactivation of synovial fibroblasts in inflammatory arthritis by regulating the TAK1/IKK2 signaling axis. Publication Status: Online-Only, [RefSeq, PubMed]; Cylindromatosis lysine 63 deubiquitinase (CYLD) suppress TLR3-mediated CCL5 expression in human renal proximal tubular epithelial cells. Publication Status: Online-Only, [RefSeq, PubMed]; Deubiquitinase that specifically cleaves 'Lys-63'- and linear 'Met-1'-linked polyubiquitin chains and is involved in NF-kappa-B activation and TNF-induced necroptosis (PubMed:18313383, PubMed:18636086, PubMed:26670046, PubMed:26997266, PubMed:27458237, PubMed:27591049, PubMed:27746020, PubMed:29291351, PubMed:32185393). Negatively regulates NF-kappa-B activation by deubiquitinating upstream signaling factors (PubMed:12917689, PubMed:12917691, PubMed:32185393). Contributes to the regulation of cell survival, proliferation and differentiation via its effects on NF-kappa-B activation (PubMed:12917690). Negative regulator of Wnt signaling (PubMed:20227366). Inhibits HDAC6 and thereby promotes acetylation of alpha-tubulin and stabilization of microtubules (PubMed:19893491). Plays a role in the regulation of microtubule dynamics, and thereby contributes to the regulation of cell proliferation, cell polarization, cell migration, and angiogenesis (PubMed:18222923, PubMed:20194890). Required for normal cell cycle progress and normal cytokinesis (PubMed:17495026, PubMed:19893491). Inhibits nuclear translocation of NF-kappa-B (PubMed:18636086). Plays a role in the regulation of inflammation and the innate immune response, via its effects on NF-kappa-B activation (PubMed:18636086). Dispensable for the maturation of intrathymic natural killer cells, but required for the continued survival of immature natural killer cells (By similarity). Negatively regulates TNFRSF11A signaling and osteoclastogenesis (By similarity). Involved in the regulation of ciliogenesis, allowing ciliary basal bodies to migrate and dock to the plasma membrane; this process does not depend on NF-kappa-B activation (By similarity). Ability to remove linear ('Met-1'-linked) polyubiquitin chains regulates innate immunity and TNF-induced necroptosis: recruited to the LUBAC complex via interaction with SPATA2 and restricts linear polyubiquitin formation on target proteins (PubMed:26670046, PubMed:26997266, PubMed:27458237, PubMed:27591049). Regulates innate immunity by restricting linear polyubiquitin formation on RIPK2 in response to NOD2 stimulation (PubMed:26997266). Involved in TNF-induced necroptosis by removing linear ('Met-1'-linked) polyubiquitin chains from RIPK1, thereby regulating the kinase activity of RIPK1 (By similarity). Negatively regulates intestinal inflammation by removing 'Lys-63' linked polyubiquitin chain of NLRP6, thereby reducing the interaction between NLRP6 and PYCARD/ASC and formation of the NLRP6 inflammasome (By similarity). Does not catalyze deubiquitination of heterotypic 'Lys-63'-/'Lys-48'-linked branched ubiquitin chains (PubMed:27746020). Removes 'Lys-63' linked polyubiquitin chain of MAP3K7, which inhibits phosphorylation and blocks downstream activation of the JNK-p38 kinase cascades (PubMed:29291351). Also removes 'Lys-63'-linked polyubiquitin chains of MAP3K1 and MA3P3K3, which inhibit their interaction with MAP2K1 and MAP2K2 (PubMed:34497368)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Megalosplenia as an initial manifestation of multiple myeloma with a novel CYLD gene mutation: A case report and literature review. Review article, [RefSeq, PubMed]; TNF and IFNgamma-induced cell death requires IRF1 and ELAVL1 to promote CASP8 expression., [RefSeq, PubMed]; This gene is encodes a cytoplasmic protein with three cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains that functions as a deubiquitinating enzyme. Mutations in this gene have been associated with cylindromatosis, multiple familial trichoepithelioma, and Brooke-Spiegler syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [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": 30, "reported_mutagensis": 19, "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": "O94934;Q7L3N6;Q96EH0;Q9NZX9", "ec_number_list": "2.7.11.10;2.7.11.1;2.7.11.25;2.7.10.2;3.4.19.12;3.6.4.13;2.3.2.-;2.3.2.24;2.3.2.23;2.3.2.27;2.3.2.31", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0019901 protein kinase binding;GO:0070064 proline-rich region binding;GO:0004843 cysteine-type deubiquitinase activity;GO:0061578 K63-linked deubiquitinase activity", "go_cellular_component": "GO:0005813 centrosome;GO:0005819 spindle;GO:0005829 cytosol;GO:0005874 microtubule;GO:0005886 plasma membrane", "go_biological_process": "GO:0035872 nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway;GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0045087 innate immune response;GO:0070536 protein K63-linked deubiquitination", "synthesized_glycan_count": 0, "hit_score": 26.8, "record_id": "Q9NQC7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P05093-1", "uniprot_id": "CP17A_HUMAN", "mass": 57371.0, "length": 508, "protein_name": "Steroid 17-alpha-hydroxylase/17,20 lyase", "gene_name": "CYP17A1", "organism": "Human", "refseq_name": "steroid 17-alpha-hydroxylase/17,20 lyase", "refseq_ac": "NP_000093", "gene_names_uniprotkb": "CYP17A1; CYP17; S17AH", "gene_names_refseq": "CPT7; CYP17A1; CYP17; P450C17; S17AH", "protein_names_uniprotkb": "Steroid 17-alpha-hydroxylase/17,20 lyase; 1.14.14.19; 1.14.14.32; 17-alpha-hydroxyprogesterone aldolase; CYPXVII; Cytochrome P450 17A1; Cytochrome P450-C17; Cytochrome P450c17; Steroid 17-alpha-monooxygenase", "protein_names_refseq": "17-alpha-hydroxyprogesterone aldolase; CYPXVII; cytochrome P450 17A1; cytochrome P450, family 17, subfamily A, polypeptide 1; cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia; cytochrome P450-C17; cytochrome P450c17; cytochrome p450 XVIIA1; steroid 17-alpha-hydroxylase/17,20 lyase; steroid 17-alpha-monooxygenase", "tax_id": 9606, "disease": "congenital adrenal hyperplasia (Disease Ontology:DOID:0050811); tongue squamous cell carcinoma (Disease Ontology:DOID:0050865); aspirin-induced respiratory disease (Disease Ontology:DOID:0080822); Fanconi anemia complementation group C (Disease Ontology:DOID:0111087); cholelithiasis (Disease Ontology:DOID:10211); prostate cancer (Disease Ontology:DOID:10283); sciatic neuropathy (Disease Ontology:DOID:11446); osteoporosis (Disease Ontology:DOID:11476); polycystic ovary syndrome (Disease Ontology:DOID:11612); pancytopenia (Disease Ontology:DOID:12450); Fanconi anemia (Disease Ontology:DOID:13636); breast cancer (Disease Ontology:DOID:1612); pancreatic cancer (Disease Ontology:DOID:1793); gallbladder cancer (Disease Ontology:DOID:3121); acute myeloid leukemia (Disease Ontology:DOID:9119)", "pathway": " (hsa:1586); (R-HSA-193048); (R-HSA-194002); (R-HSA-5579028)", "pathway_count": 4, "publication_count": 73, "publication_id_list": "10406467;10720067;11237011;11549685;11836339;12466376;1279965;12832414;14671162;1515452;16569739;16616104;1712709;1714904;1740503;17986282;18318566;1885595;1944309;1944596;1964490;19793597;19879888;19936164;20160131;2197970;22266943;2243100;2339109;24140098;24498484;25301938;2534550;25650406;25961201;27339894;2770297;2808364;2843762;28832583;2889032;29242379;29557506;3025870;3038528;31844290;3207614;3274893;3299377;3487786;3500022;36640554;37217939;3783591;38104728;38280431;38798260;38842434;39020240;7195404;8027220;8075637;8245018;8345056;8396144;8547185;8550762;9208814;9326943;9435441;9452426;9536209;9871428", "class_list": "", "function": "17alpha Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort., [RefSeq, PubMed]; A cytochrome P450 monooxygenase involved in corticoid and androgen biosynthesis (PubMed:22266943, PubMed:25301938, PubMed:27339894, PubMed:9452426). Catalyzes 17-alpha hydroxylation of C21 steroids, which is common for both pathways. A second oxidative step, required only for androgen synthesis, involves an acyl-carbon cleavage. The 17-alpha hydroxy intermediates, as part of adrenal glucocorticoids biosynthesis pathway, are precursors of cortisol (Probable) (PubMed:25301938, PubMed:9452426). Hydroxylates steroid hormones, pregnenolone and progesterone to form 17-alpha hydroxy metabolites, followed by the cleavage of the C17-C20 bond to form C19 steroids, dehydroepiandrosterone (DHEA) and androstenedione (PubMed:22266943, PubMed:25301938, PubMed:27339894, PubMed:36640554, PubMed:9452426). Has 16-alpha hydroxylase activity. Catalyzes 16-alpha hydroxylation of 17-alpha hydroxy pregnenolone, followed by the cleavage of the C17-C20 bond to form 16-alpha-hydroxy DHEA (PubMed:36640554). Also 16-alpha hydroxylates androgens, relevant for estriol synthesis (PubMed:25301938, PubMed:27339894). 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:22266943, PubMed:25301938, PubMed:27339894, PubMed:9452426)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Prostate cancer androgen biosynthesis relies solely on CYP17A1 downstream metabolites., [RefSeq, PubMed]; Proteomics, modeling, and fluorescence assays delineate cytochrome b5 residues involved in binding and stimulation of cytochrome P450 17A1 17,20-lyase., [RefSeq, PubMed]; Revealing a New Homozygous Variant in CYP17A1 c.908G>A (p. Gly303Asp) by Genotyping a Chinese Patient with 46, XY 17a-Hydroxylase/17,20-Lyase Deficiency and Adrenal Space-Occupying Lesion., [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. It has both 17alpha-hydroxylase and 17,20-lyase activities and is a key enzyme in the steroidogenic pathway that produces progestins, mineralocorticoids, glucocorticoids, androgens, and estrogens. Mutations in this gene are associated with isolated steroid-17 alpha-hydroxylase deficiency, 17-alpha-hydroxylase/17,20-lyase deficiency, pseudohermaphroditism, and adrenal hyperplasia. [provided by RefSeq, Jul 2008]., [RefSeq]; Tracking protein-protein interactions by NMR: conformational selection in human steroidogenic cytochrome P450 CYP17A1 induced by cytochrome b5. 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": 1, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 15, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5TZV7", "ec_number_list": "1.14.14.19;1.14.14.32;1.14.14.1;1.14.14.25", "go_molecular_function": "GO:0005506 iron ion binding;GO:0020037 heme binding;GO:0016829 lyase activity;GO:0019825 oxygen binding;GO:0004508 steroid 17-alpha-monooxygenase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0030424 axon;GO:0043025 neuronal cell body;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0042446 hormone biosynthetic process;GO:0006694 steroid biosynthetic process;GO:0006702 androgen biosynthetic process;GO:0006704 glucocorticoid biosynthetic process;GO:0007548 sex differentiation", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "P05093-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92838-1", "uniprot_id": "EDA_HUMAN", "mass": 41294.0, "length": 391, "protein_name": "Ectodysplasin-A", "gene_name": "EDA", "organism": "Human", "refseq_name": "ectodysplasin-A isoform 2", "refseq_ac": "NP_001005609", "gene_names_uniprotkb": "EDA; ED1; EDA2", "gene_names_refseq": "ECTD1; ED1-A1; ED1-A2; ED1; EDA-A1; EDA-A2; EDA1; EDA2; EDA; HED1; HED; ODT1; STHAGX1; TNLG7C; XHED; XLHED", "protein_names_uniprotkb": "Ectodysplasin-A; EDA protein; Ectodermal dysplasia protein", "protein_names_refseq": "X-linked anhidroitic ectodermal dysplasia protein; ectodysplasin-A isoform 2; oligodontia 1; tumor necrosis factor ligand 7C", "tax_id": 9606, "disease": "Liddle syndrome (Disease Ontology:DOID:0050477); tooth agenesis (Disease Ontology:DOID:0050591); ectodermal dysplasia 1 (Disease Ontology:DOID:0111664); hypohidrotic ectodermal dysplasia (Disease Ontology:DOID:14793); ectodermal dysplasia (Disease Ontology:DOID:2121); carcinoma (Disease Ontology:DOID:305); muscular atrophy (Disease Ontology:DOID:767)", "pathway": " (hsa:1896); (R-HSA-5669034)", "pathway_count": 2, "publication_count": 69, "publication_id_list": "10074428;10359578;10398604;10469321;10484778;10597252;10615125;10951256;11039935;11237011;11279189;11295832;11309369;11343303;11378824;11416205;11571266;11882293;11911831;12189164;12225002;12932274;12949498;14656435;15356117;15470070;16501042;1655907;16583127;16959974;17256800;17632511;18231121;18571443;18606301;18657636;19127222;19278982;19438931;20032458;20222921;20307208;20486090;20510730;20979233;21300286;22008666;22197273;22350046;22664871;22801960;23603338;23625373;24070496;24487376;24724966;27144394;27657131;34582123;38287639;7913952;8120384;8696334;8871664;9507389;9630076;9683615;9736768;9878548", "class_list": "", "function": "Binds only to the receptor EDA2R., [UniProtKB, PubMed, PubMed]; Binds only to the receptor EDAR, while isoform 3 binds exclusively to the receptor EDA2R., [UniProtKB, PubMed, PubMed]; Cytokine which is involved in epithelial-mesenchymal signaling during morphogenesis of ectodermal organs. Functions as a ligand activating the DEATH-domain containing receptors EDAR and EDA2R (PubMed:11039935, PubMed:27144394, PubMed:34582123, PubMed:8696334). May also play a role in cell adhesion (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; The protein encoded by this gene is a type II membrane protein that can be cleaved by furin to produce a secreted form. The encoded protein, which belongs to the tumor necrosis factor family, acts as a homotrimer and may be involved in cell-cell signaling during the development of ectodermal organs. Defects in this gene are a cause of ectodermal dysplasia, anhidrotic, which is also known as X-linked hypohidrotic ectodermal dysplasia. Several transcript variants encoding many different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 14, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 7, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A0AUZ2;A2A337;B7ZLU2;B7ZLU4;O75910;Q5JS00;Q5JUM7;Q9UP77;Q9Y6L0;Q9Y6L1;Q9Y6L2;Q9Y6L3;Q9Y6L4", "ec_number_list": "", "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005125 cytokine activity;GO:0038177 death receptor agonist activity;GO:0005123 death receptor binding;GO:0005164 tumor necrosis factor receptor binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0045177 apical part of cell", "go_biological_process": "GO:0006955 immune response;GO:0030154 cell differentiation;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0042475 odontogenesis of dentin-containing tooth;GO:0042476 odontogenesis", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "Q92838-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P49757-1", "uniprot_id": "NUMB_HUMAN", "mass": 70804.0, "length": 651, "protein_name": "Protein numb homolog", "gene_name": "NUMB", "organism": "Human", "refseq_name": "protein numb homolog isoform 1", "refseq_ac": "NP_001005743", "gene_names_uniprotkb": "NUMB; C14orf41", "gene_names_refseq": "C14orf41; NUMB; S171; c14_5527", "protein_names_uniprotkb": "Protein numb homolog; Protein S171; h-Numb", "protein_names_refseq": "h-Numb; protein numb homolog isoform 1; protein numb homolog", "tax_id": 9606, "disease": "brain cancer (Disease Ontology:DOID:1319)", "pathway": " (hsa:8650); (R-HSA-2122948); (R-HSA-437239); (R-HSA-5610780); (R-HSA-5632684); (R-HSA-9725554)", "pathway_count": 6, "publication_count": 234, "publication_id_list": "10206645;10433824;10468633;10564661;10608864;10747093;10804209;10818153;10879540;10882063;10966113;11006133;11027307;11226752;11237011;11740940;11752454;11960000;12050670;12067728;12068298;12082080;12123571;12138125;12209127;12354787;12426310;12530964;12624109;12775724;12942088;14528312;14567914;14611647;14670962;15115751;15140226;15198976;15234001;15300262;15556625;15574878;15652348;15675955;15760269;15780751;15824097;15829515;15965470;16061793;16093323;16136078;16155214;16284625;16297201;16330023;16421275;16459297;16459298;16611981;16651542;16705181;16740475;16964243;16980583;17003037;17022975;17028573;17081983;17115028;17203073;17283082;17330888;17401372;17442700;17641202;18043734;18077452;18237417;18296446;18452278;18455992;18478542;18497258;18628966;18657069;18669648;18700817;18767875;18824583;18824585;18827223;18832070;19000840;19056373;19151708;19278660;19305393;19368795;19371734;19524514;19533801;19549984;19567869;19592253;19622347;19651622;19664994;19664995;19666503;19684112;19726682;19818708;19852954;19878745;19924134;19955409;19996169;20014402;20016067;20068231;20154143;20166139;20360384;20460306;20487519;20512148;20643644;20818436;20844016;20889716;20956384;21486681;21695114;21775625;21801010;21878643;22007132;22162134;22391301;22735594;22982193;23186163;23283814;23301498;23332756;23629652;23719536;23725801;23955340;24072710;24275569;24302888;24366607;24397554;2448316;24582806;24794495;24845016;24854174;24925320;25403733;25576301;25892735;26154972;26340985;26811146;27600516;27862975;27920218;28218747;28228285;28832583;28904123;29242379;29314611;29331515;29393594;29437277;29557506;29769354;29789417;30315122;30379171;30429286;30905808;31154438;31217245;31399284;31844290;32157095;32357974;32502341;32938616;32983136;33043033;33123756;33141586;33298915;33537174;33592498;33691108;33717175;33912179;33968037;34019948;35051231;35154160;35478938;35562322;35580925;36200956;36241641;36284347;37376558;37938771;38665916;39894887;7493978;7596406;8313469;9244301;9303539;9315665;9462510;9590294;9601642;9604939;9620803;9651214;9651681;9721721;9819428;9874371", "class_list": "", "function": "Aberrant phosphorylation inactivates Numb in breast cancer causing expansion of the stem cell pool., [RefSeq, PubMed]; Notch, Numb and Numb-like responses to exercise-induced muscle damage in human skeletal muscle., [RefSeq, PubMed]; Prognostic Biomarker NUMB Is Inhibited by Breast Cancer Cell Exosomes to Promote Breast Cancer Progression. Publication Status: Online-Only, [RefSeq, PubMed]; Regulates clathrin-mediated receptor endocytosis (PubMed:18657069). Plays a role in the process of neurogenesis (By similarity). Required throughout embryonic neurogenesis to maintain neural progenitor cells, also called radial glial cells (RGCs), by allowing their daughter cells to choose progenitor over neuronal cell fate (By similarity). Not required for the proliferation of neural progenitor cells before the onset of neurogenesis. Also involved postnatally in the subventricular zone (SVZ) neurogenesis by regulating SVZ neuroblasts survival and ependymal wall integrity (By similarity). May also mediate local repair of brain ventricular wall damage (By similarity)., [UniProtKB, UniProtKB, PubMed]; The protein encoded by this gene plays a role in the determination of cell fates during development. The encoded protein, whose degradation is induced in a proteasome-dependent manner by MDM2, is a membrane-bound protein that has been shown to associate with EPS15, LNX1, and NOTCH1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]., [RefSeq]; Zika Virus Induces Degradation of the Numb Protein Required through Embryonic Neurogenesis. 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": 20, "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": "B1P2N5;B1P2N6;B1P2N7;B1P2N8;B1P2N9;B4E2B1;Q6NUQ7;Q86SY1;Q8WW73;Q9UBG1;Q9UEQ4;Q9UKE8;Q9UKE9;Q9UKF0;Q9UQJ4", "ec_number_list": "", "go_molecular_function": "GO:0045296 cadherin binding;GO:0008013 beta-catenin binding;GO:0045294 alpha-catenin binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005886 plasma membrane;GO:0005905 clathrin-coated pit", "go_biological_process": "GO:0030100 regulation of endocytosis;GO:0030335 positive regulation of cell migration;GO:1903077 negative regulation of protein localization to plasma membrane;GO:0021670 lateral ventricle development;GO:0050769 positive regulation of neurogenesis", "synthesized_glycan_count": 0, "hit_score": 23.7, "record_id": "P49757-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5H9S7-1", "uniprot_id": "DCA17_HUMAN", "mass": 58778.0, "length": 520, "protein_name": "DDB1- and CUL4-associated factor 17", "gene_name": "DCAF17", "organism": "Human", "refseq_name": "DDB1- and CUL4-associated factor 17 isoform 1", "refseq_ac": "NP_079276", "gene_names_uniprotkb": "DCAF17; C2orf37", "gene_names_refseq": "C20orf37; C2orf37; DCAF17", "protein_names_uniprotkb": "DDB1- and CUL4-associated factor 17", "protein_names_refseq": "DDB1- and CUL4-associated factor 17 isoform 1", "tax_id": 9606, "disease": "Woodhouse-Sakati syndrome (Disease Ontology:DOID:0112264)", "pathway": " (hsa:80067); (R-HSA-8951664)", "pathway_count": 2, "publication_count": 144, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11069780;11237011;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;16547496;16647857;16707496;16790436;16943200;16949367;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18775313;18776931;18805092;18826954;18851830;18926707;19026396;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;25576301;25880248;26344709;26460955;26632597;26906416;26992070;27030794;27222660;27565346;27846572;27862975;27920218;28063628;28115426;28218747;28832583;28834231;28904123;29153394;29242379;29393594;29437277;29632046;30315122;30379171;30429286;30610225;31217245;31323129;31844290;32005965;32157095;32265295;32284348;32357974;32387766;32938616;33298915;33444648;33717175;33912179;33968037;34171305;34509645;34732557;34877714;35051231;9790970;9887101;9891082", "class_list": "", "function": "Analysis of the exome data revealed a start loss sequence variant (c.1A>G, p.M1?) in DCAF17 in a Pakastani family with Woodhouse-Sakati syndrome. This variant is predicted to abolish translation of the DCAF17 polypeptide. To our knowledge, this is the first start loss variant identified in the DCAF17., [RefSeq, PubMed]; May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex., [UniProtKB, PubMed]; Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome., [RefSeq, PubMed]; Novel splicing-site mutation in DCAF17 gene causing Woodhouse-Sakati syndrome in a large consanguineous family., [RefSeq, PubMed]; This gene encodes a nuclear transmembrane protein that associates with cullin 4A/damaged DNA binding protein 1 ubiquitin ligase complex. Mutations in this gene are associated with Woodhouse-Sakati syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]., [RefSeq]; Woodhouse-Sakati syndrome (WSS): A case report of 3 Saudi sisters with urogenital anomalies., [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": "B2RTW5;Q53TN3;Q9H908", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0016020 membrane;GO:0080008 Cul4-RING E3 ubiquitin ligase complex", "go_biological_process": "GO:0007283 spermatogenesis;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 14.7, "record_id": "Q5H9S7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P49447-1", "uniprot_id": "CY561_HUMAN", "mass": 27559.0, "length": 251, "protein_name": "Transmembrane ascorbate-dependent reductase CYB561", "gene_name": "CYB561", "organism": "Human", "refseq_name": "transmembrane ascorbate-dependent reductase CYB561 isoform 1", "refseq_ac": "NP_001017916", "gene_names_uniprotkb": "CYB561", "gene_names_refseq": "CGCytb; CYB561A1; CYB561; FRRS2; ORTHYP2", "protein_names_uniprotkb": "Transmembrane ascorbate-dependent reductase CYB561; 7.2.1.3; Cytochrome b-561; Cytochrome b561", "protein_names_refseq": "chromaffin granule CYB561; cytochrome b-561; cytochrome b561 family, member A1; ferric-chelate reductase 2; transmembrane ascorbate-dependent reductase CYB561 isoform 1; transmembrane ascorbate-dependent reductase CYB561", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); stomach cancer (Disease Ontology:DOID:10534); gastrointestinal system cancer (Disease Ontology:DOID:3119); hepatocellular carcinoma (Disease Ontology:DOID:684); colorectal cancer (Disease Ontology:DOID:9256); orthostatic hypotension 2 (MONDO:MONDO:0020751)", "pathway": " (hsa:1534)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "11237011;12768339;26992070;28218747;28514659;28834231;28904123;29343526;29393594;29632046;29769354;31217245;31611695;32161166;32265295;32938616;34185709;34357683;35051231;35580925;37584287;37634562;37938771;38039324;39135107;7559396;7980462", "class_list": "", "function": "CYB561 is a potential therapeutic target for breast cancer and is associated with immune cell infiltration. Publication Status: Online-Only, [RefSeq, PubMed]; Comparison of insect and human cytochrome b561 proteins: Insights into candidate ferric reductases in insects. Publication Status: Online-Only, [RefSeq, PubMed]; Cytochrome b561 regulates iron metabolism by activating the Akt/mTOR pathway to promote Breast Cancer Cells proliferation., [RefSeq, PubMed]; MiR-30e-5p regulates leukemia stem cell self-renewal through the Cyb561/ROS signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Structural features in the cyt b(561) family are well conserved at both the sequence and the protein level, [RefSeq, PubMed]; Transmembrane reductase that probably uses ascorbate as an electron donor to reduce Fe(3+) into Fe(2+) and could play a role in iron transport. It is also able to reduce extracellular monodehydro-L-ascorbate and could be involved in the regeneration and homeostasis within secretory vesicles of ascorbate which in turn provides reducing equivalents needed to support the activity of intravesicular enzymes., [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": 1, "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": "B2RE96;B7Z775;D3DU11;Q5BJG9;Q9BU05;Q9BWR9", "ec_number_list": "7.2.1.3", "go_molecular_function": "GO:0046872 metal ion binding;GO:0016491 oxidoreductase activity;GO:0140575 transmembrane monodehydroascorbate reductase activity;GO:0140571 transmembrane ascorbate ferrireductase activity", "go_cellular_component": "GO:0016020 membrane;GO:0005765 lysosomal membrane;GO:0042584 chromaffin granule membrane", "go_biological_process": "GO:0006879 intracellular iron ion homeostasis;GO:0022900 electron transport chain;GO:0140576 ascorbate homeostasis", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "P49447-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P04233-1", "uniprot_id": "HG2A_HUMAN", "mass": 33516.0, "length": 296, "protein_name": "HLA class II histocompatibility antigen gamma chain", "gene_name": "CD74", "organism": "Human", "refseq_name": "HLA class II histocompatibility antigen gamma chain isoform c", "refseq_ac": "NP_001020329", "gene_names_uniprotkb": "CD74; DHLAG", "gene_names_refseq": "CD74; CLIP; DHLAG; HLADG; II; Ia-GAMMA; p33", "protein_names_uniprotkb": "HLA class II histocompatibility antigen gamma chain; HLA-DR antigens-associated invariant chain; Ia antigen-associated invariant chain; Ii", "protein_names_refseq": "CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated); CD74 molecule, major histocompatibility complex, class II invariant chain; HLA class II histocompatibility antigen gamma chain isoform c; HLA class II histocompatibility antigen gamma chain; HLA-DR antigens-associated invariant chain; HLA-DR-gamma; Ia-associated invariant chain; MHC HLA-DR gamma chain; class II MHC-associated invariant chain peptide; gamma chain of class II antigens", "tax_id": 9606, "disease": "", "pathway": " (hsa:972); (R-HSA-202733); (R-HSA-2132295); (R-HSA-9925563)", "pathway_count": 4, "publication_count": 263, "publication_id_list": "10.1038/emboj.2013.79;10022822;10036229;10064083;10072072;10233671;10480952;10540230;10593899;10606205;10631941;10631952;10639150;10748235;10764623;10809954;11207550;11237011;11256994;11466336;11529500;11564780;11684289;11779189;11790530;11812992;11813165;11853874;12070135;12078484;12198549;12208882;12469115;12661006;12742663;12748383;12782713;1380674;1448172;14529530;14615387;1465617;14731593;15000751;15240697;15528364;15681301;15721307;15749704;15777939;15911768;1591491;16181339;16242130;16258728;16297198;16585556;16618111;16691243;16737840;16783819;16824007;17064312;17099249;17116209;17142755;17167768;17172599;17283181;17322099;17379836;17442946;17452516;17505016;17525755;17563375;17580308;17600130;17615384;17625065;17975675;18046453;18292509;18292551;18507432;19092054;19159218;19279206;1956401;19564404;21081667;21116285;21193412;2121367;21441454;21659548;2190094;22171320;22299025;22645359;23234360;23328677;23481700;23555621;23584533;23739916;2391366;23945545;24029068;24043627;24190977;24715725;24764293;25326458;2538457;25418920;25502872;25505266;25576301;25892735;26154972;26375851;26707565;26811146;26992070;27452731;27726376;27846572;27862975;28063628;28218747;28228285;28467828;28489076;28832583;28834231;28871256;28904123;29242379;29275860;29314611;29331515;29351928;29393594;29493099;29508533;29557506;29632046;29632711;29741879;29786170;29789417;3001652;30315122;30484775;31020640;3104027;31154438;31217245;31611695;31844290;32125861;32157095;32162841;32265295;32337544;32350084;32357974;32387766;32488085;32502341;32855215;32897882;32938616;32983136;33043033;33091337;33141586;33298915;33392160;33592498;33633747;33717175;33912179;33936100;33968037;34078123;34357683;34433824;34561969;3459184;34932366;35051231;35154160;35251023;35561310;35580925;36213313;36215666;36241641;36284347;37074911;37453717;37938771;38148635;38280003;38565329;38702311;39080216;468991;6324166;6586420;7477400;7481823;7499850;7509040;7519208;7521878;7592972;7604034;7650016;7667286;7672826;7865457;8046351;8119729;8134367;8145819;8148318;8163559;8166770;8313912;8314844;8315383;8397411;8415765;8606061;8642258;8687433;8753854;8849454;8909537;8921967;8939989;8947036;9052782;9075930;9169774;9202021;9242610;9295288;9311912;9312039;9321428;9382878;9497313;9539769;9545226;9606180;9693095;9763524;9842927;9843486", "class_list": "glycogene", "function": "Binds to the peptide-binding site of MHC class II alpha/beta heterodimers forming an alpha-beta-CLIP complex, thereby preventing the loading of antigenic peptides to the MHC class II complex until its release by HLA-DM in the endosome., [UniProtKB, PubMed]; CD74 is associated with inflamed tumor immune microenvironment and predicts responsiveness to PD-1/CTLA-4 bispecific antibody in patients with solid tumors. Publication Status: Online-Only, [RefSeq, PubMed]; CD74 supports accumulation and function of regulatory T cells in tumors. Publication Status: Online-Only, [RefSeq, PubMed]; CD74-ROS1 L2026M mutant enhances autophagy through the MEK/ERK pathway to promote invasion, metastasis and crizotinib resistance in non-small cell lung cancer cells., [RefSeq, PubMed]; Macrophage migration inhibitory factor mediates skin aging via CD74: Insights from single-cell and bulk RNA sequencing data., [RefSeq, PubMed]; Plays a critical role in MHC class II antigen processing by stabilizing peptide-free class II alpha/beta heterodimers in a complex soon after their synthesis and directing transport of the complex from the endoplasmic reticulum to the endosomal/lysosomal system where the antigen processing and binding of antigenic peptides to MHC class II takes place. Serves as cell surface receptor for the cytokine MIF., [UniProtKB]; Potential protumor function of CD74 in clear cell renal cell carcinoma., [RefSeq, PubMed]; Stabilizes the conformation of mature CTSL by binding to its active site and serving as a chaperone to help maintain a pool of mature enzyme in endocytic compartments and extracellular space of antigen-presenting cells (APCs). Has antiviral activity by stymieing the endosomal entry of Ebola virus and coronaviruses, including SARS-CoV-2 (PubMed:32855215). Disrupts cathepsin-mediated Ebola virus glycoprotein processing, which prevents viral fusion and entry. This antiviral activity is specific to p41 isoform (PubMed:32855215)., [UniProtKB, UniProtKB, PubMed]; The protein encoded by this gene associates with class II major histocompatibility complex (MHC) and is an important chaperone that regulates antigen presentation for immune response. It also serves as cell surface receptor for the cytokine macrophage migration inhibitory factor (MIF) which, when bound to the encoded protein, initiates survival pathways and cell proliferation. This protein also interacts with amyloid precursor protein (APP) and suppresses the production of amyloid beta (Abeta). Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [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": 5, "reported_o_glycosites": 3, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 8, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 8, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 8, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 1, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 716, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 90, "disease_count": 0, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "A8K7R1;B4DNE8;D3DQG3;D3DQG4;Q14597;Q29832;Q5U0J8;Q8SNA0;Q8WLP6", "ec_number_list": "", "go_molecular_function": "GO:0035718 macrophage migration inhibitory factor binding;GO:0042802 identical protein binding;GO:0001540 amyloid-beta binding;GO:0023026 MHC class II protein complex binding;GO:0042609 CD4 receptor binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane", "go_biological_process": "GO:0001961 positive regulation of cytokine-mediated signaling pathway;GO:0006886 intracellular protein transport;GO:0010628 positive regulation of gene expression;GO:0043066 negative regulation of apoptotic process;GO:0070206 protein trimerization", "synthesized_glycan_count": 0, "hit_score": 36.7, "record_id": "P04233-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13409-1", "uniprot_id": "DC1I2_HUMAN", "mass": 71457.0, "length": 638, "protein_name": "Cytoplasmic dynein 1 intermediate chain 2", "gene_name": "DYNC1I2", "organism": "Human", "refseq_name": "cytoplasmic dynein 1 intermediate chain 2 isoform 1", "refseq_ac": "NP_001258714", "gene_names_uniprotkb": "DYNC1I2; DNCI2; DNCIC2", "gene_names_refseq": "DIC74; DNCI2; DYNC1I2; IC2; NEDMIBA", "protein_names_uniprotkb": "Cytoplasmic dynein 1 intermediate chain 2; Cytoplasmic dynein intermediate chain 2; DH IC-2; Dynein intermediate chain 2, cytosolic", "protein_names_refseq": "DH IC-2; cytoplasmic dynein 1 intermediate chain 2 isoform 1; dynein intermediate chain 2, cytosolic; dynein, cytoplasmic, intermediate polypeptide 2; testis tissue sperm-binding protein Li 66n", "tax_id": 9606, "disease": "autosomal recessive primary microcephaly (Disease Ontology:DOID:0070296); paranoid schizophrenia (Disease Ontology:DOID:1229); schizophrenia (Disease Ontology:DOID:5419); neurodevelopmental disorder with microcephaly and structural brain anomalies (MONDO:MONDO:0032779)", "pathway": " (hsa:1781); (R-HSA-141430); (R-HSA-141444); (R-HSA-2132295); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-2565942); (R-HSA-3371497); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-5620912); (R-HSA-5663220); (R-HSA-6807878); (R-HSA-6811436); (R-HSA-68877); (R-HSA-8854518); (R-HSA-9609690); (R-HSA-9646399); (R-HSA-9648025)", "pathway_count": 21, "publication_count": 509, "publication_id_list": "10036229;10052452;10064083;10072072;10089880;10318838;10359595;10411507;10445031;10480952;10491388;10540230;10559959;10559986;10562278;10593899;10600384;10631941;10631952;10639150;10678165;10679020;10747884;10748235;10761932;10809954;10903204;10921873;10958683;11035033;11076968;11080672;11081627;11172815;11181178;11237011;11285137;11306556;11371342;11461920;11483508;11509732;11529500;11535616;11589254;11684289;11689559;11701661;11703931;11726511;11748249;11751894;11790530;11804586;11813165;11853874;11956313;12006501;12024216;12047556;12070132;12078484;12194817;12198549;12207013;12221128;12364337;12388752;12401177;12429848;12432908;12447383;12577064;12634853;12679384;12732141;12742663;12748383;12781197;12805219;12852856;12852857;12857923;12925777;13486053;13678582;14580337;14654841;14654843;14675537;14730319;14731593;14742712;1493716;15006353;15037235;15085137;15159550;15339662;15381148;15483056;15498487;15507212;15591061;15616190;15632110;15705883;15723797;15728195;15737063;15749704;15813748;15864301;15866170;15878873;15911768;15914536;15944396;16030262;16140760;16181339;16207721;16242130;16292343;1631136;16314391;16357211;16403413;16439214;16462731;16541025;16618111;16622419;16622420;16633337;16682347;16723730;1680566;16824007;16890155;16890222;16912714;16926190;16940185;16943183;16964243;17030981;17112726;17113138;17129783;17142755;17196341;17198702;17253781;17274799;17283181;17287340;17360540;1737036;17429068;17451557;17488286;17574030;17591767;17646400;17719545;17760859;17785525;17804755;17827179;17846173;17927562;17956946;18001770;18037885;18046453;18086915;18097444;18182008;18203656;18215318;18243712;18254226;18283113;18292509;18378770;18477460;18491316;18521620;18524849;18535146;18566290;18615013;18635947;18641641;18664496;18669648;18694559;18716626;18801063;18809720;18923426;1898986;19004860;19015319;19081074;19109418;19164740;19296914;19350017;19359544;19413330;1956401;19564404;1957170;19631211;19635840;19682613;19690332;19696148;19753100;19758564;19767751;19815554;19940019;19965387;20006655;20006841;20030946;20038533;20068231;20072699;20101212;20230748;20308558;20357002;20399632;20420828;20427317;20558667;20591975;20637885;21111234;21116285;21148482;21158691;21173190;21183720;2121367;21219331;21273506;21347367;21376746;21397845;21406692;21422230;21441454;21548880;21565611;21576392;21620453;21689688;21690215;21700222;21725307;21792235;21796517;21844168;21868368;21878504;2190094;21987589;22011577;22013193;22028470;22094269;22094460;22094468;22130221;22174689;22179047;22266222;22275430;22304919;22318716;22365832;22433123;22433857;22562055;22608513;22641346;22653444;22790947;22791416;22885700;23141531;23141541;23186163;23222643;23253480;23301498;23333653;23348840;23400999;23515720;23530209;23747070;23769972;23783758;23789104;23801653;23839779;2391366;23921553;24012426;24053599;24089205;24119662;24200693;24231678;24366607;24397554;24469809;24694367;24806965;24891604;24914801;24982133;25047611;25233431;25313408;25418920;25436559;25453831;25492864;25532896;25576301;25740311;25789526;25892735;26073023;26154972;26203193;26313416;26375851;26572645;26929215;26992070;27397612;27462449;27501258;27502274;27663436;27846572;27862975;27920218;28083797;28218747;28228285;28301631;28415052;28510447;28755533;28832583;28904123;28919297;29242379;29351928;29393594;29420470;29437277;29493099;29508533;29557506;29605689;29632711;29769354;29786170;30197098;30315122;30360396;30410026;30429286;30524438;30761409;30779550;30833945;31079899;31110491;31141847;31154438;31217245;31222486;31409757;31530632;31731497;31826031;31844290;31848261;32016915;32157095;32161166;32320027;32350084;32357974;32387766;32448030;32544881;32897882;32938616;32982970;32983136;33141586;33298915;33392160;33402344;33537174;33592498;33717175;33912179;33968037;34019948;34171305;34185709;34229054;34260926;34400173;34725712;34932366;35008409;35051231;35318648;35580925;36010968;36071160;36215666;36284347;37938771;38665916;40596516;40914422;6645495;6891012;7481823;7592972;7650016;7667286;7691276;7769006;7790358;8001155;8046351;8128252;8132710;8134367;8145819;8148318;8157723;8221884;8253837;8282004;8313912;8397411;8415765;8505331;8522607;8560673;8620540;8636227;8642258;8687433;8838651;8849454;8909537;8939989;8947036;8991093;9030515;9050864;9075930;9114004;9150144;9177194;9202021;9244307;9288971;9311912;9312039;9323141;9380700;9382863;9405360;9464360;9464361;9490716;9497313;9539769;9545226;9606180;9649308;9649503;9667968;9671725;9671731;9733780;9751720;9864362;9892021;9990005", "class_list": "", "function": "Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function (PubMed:31079899). Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules (PubMed:31079899). The intermediate chains mediate the binding of dynein to dynactin via its 150 kDa component (p150-glued) DCTN1 (By similarity). Involved in membrane-transport, such as Golgi apparatus, late endosomes and lysosomes (By similarity)., [UniProtKB, UniProtKB, PubMed]; Dynein intermediate chain 2c (DNCI2c) complex is essential for exiting Mad2-dependent spindle assembly checkpoint., [RefSeq, PubMed]; This gene encodes a member of the dynein intermediate chain family. The encoded protein is a non-catalytic component of the cytoplasmic dynein 1 complex, which acts as a retrograde microtubule motor to transport organelles and vesicles. A pseudogene of this gene is located on chromosome 10. Alternative splicing results in multiple transcript variants. [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": 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": 0, "reported_glycation": 0, "reported_snv": 16, "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": "B7ZA04;D3DPD4;D3DPD5;D3DPD6;Q32LY9;Q53S84;Q5BJF8;Q7Z4X1;Q96NG7;Q96S87;Q9BXZ5;Q9NT58", "ec_number_list": "", "go_molecular_function": "GO:0003777 microtubule motor activity;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:0005874 microtubule;GO:0031982 vesicle", "go_biological_process": "GO:0007018 microtubule-based movement;GO:0010970 transport along microtubule;GO:0032388 positive regulation of intracellular transport;GO:0090267 positive regulation of mitotic cell cycle spindle assembly checkpoint", "synthesized_glycan_count": 0, "hit_score": 51.2, "record_id": "Q13409-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q02928-1", "uniprot_id": "CP4AB_HUMAN", "mass": 59348.0, "length": 519, "protein_name": "Cytochrome P450 4A11", "gene_name": "CYP4A11", "organism": "Human", "refseq_name": "cytochrome P450 4A11 isoform 1", "refseq_ac": "NP_000769", "gene_names_uniprotkb": "CYP4A11; CYP4A2", "gene_names_refseq": "CP4Y; CYP4A11; CYP4A2; CYP4AII; CYPIVA11", "protein_names_uniprotkb": "Cytochrome P450 4A11; 1.14.14.1; 1.14.14.80; 20-HETE synthase; 20-hydroxyeicosatetraenoic acid synthase; CYP4AII; CYPIVA11; Cytochrome P-450HK-omega; Cytochrome P450HL-omega; Fatty acid omega-hydroxylase; Lauric acid omega-hydroxylase; Long-chain fatty acid omega-monooxygenase", "protein_names_refseq": "20-HETE synthase; 20-hydroxyeicosatetraenoic acid synthase; P450HL-omega; alkane-1 monooxygenase; cytochrome P-450HK-omega; cytochrome P450 4A11 isoform 1; cytochrome P450 4A11; cytochrome P450, family 4, subfamily A, polypeptide 11; cytochrome P450, subfamily IVA, polypeptide 11; cytochrome P450HL-omega; fatty acid omega-hydroxylase; lauric acid omega-hydroxylase; long-chain fatty acid omega-monooxygenase", "tax_id": 9606, "disease": "autosomal recessive polycystic kidney disease (Disease Ontology:DOID:0110861); hypertension (Disease Ontology:DOID:10763)", "pathway": " (hsa:1579); (R-HSA-1989781); (R-HSA-211935); (R-HSA-211958); (R-HSA-211979); (R-HSA-2142691); (R-HSA-2142816)", "pathway_count": 7, "publication_count": 113, "publication_id_list": "10064732;10405341;10553002;10620324;10660572;10777541;10779545;10791960;11139583;11160876;11162607;11237011;11267664;11821421;11844797;12118000;12177166;12432928;12464262;12505311;12582161;12711469;1359745;14660610;15006160;15067378;15130092;15145985;15258110;15548719;15604543;15611369;15635043;15895287;16380219;16436457;16677611;16795963;16972786;1739747;18065749;18182499;18184802;1848634;18540824;18647347;18719978;18848529;19088433;19710929;19743890;19934321;20110263;20436887;21447318;22299025;23076889;24196956;27046942;2753893;2768222;2836406;2864155;2866075;2877850;2882965;29133059;29484037;29557506;2995393;3006030;30132788;3020588;30669;31154438;3118366;3164719;32124935;32141150;32373936;33968037;34509645;35051231;35494241;35580925;3563417;36284347;3933675;6122208;6293969;6490615;7679927;7685352;7798189;7892212;7937884;8052639;8274222;8363569;8394361;8576264;8631948;8647822;8913342;8914854;9012850;9435160;9461497;9539102;9600267;9618440;9748239;9799565", "class_list": "", "function": "A cytochrome P450 monooxygenase involved in the metabolism of fatty acids and their oxygenated derivatives (oxylipins) (PubMed:10553002, PubMed:10660572, PubMed:15611369, PubMed:1739747, PubMed:7679927, PubMed:8914854). 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:10553002, PubMed:10660572, PubMed:15611369, PubMed:1739747, PubMed:7679927, PubMed:8914854). Catalyzes predominantly the oxidation of the terminal carbon (omega-oxidation) of saturated and unsaturated fatty acids, the catalytic efficiency decreasing in the following order: dodecanoic > tetradecanoic > (9Z)-octadecenoic > (9Z,12Z)-octadecadienoic > hexadecanoic acid (PubMed:10553002, PubMed:10660572). Acts as a major omega-hydroxylase for dodecanoic (lauric) acid in liver (PubMed:15611369, PubMed:1739747, PubMed:7679927, PubMed:8914854). Participates in omega-hydroxylation of (5Z,8Z,11Z,14Z)-eicosatetraenoic acid (arachidonate) to 20-hydroxyeicosatetraenoic acid (20-HETE), a signaling molecule acting both as vasoconstrictive and natriuretic with overall effect on arterial blood pressure (PubMed:10620324, PubMed:10660572, PubMed:15611369). Can also catalyze the oxidation of the penultimate carbon (omega-1 oxidation) of fatty acids with lower efficiency (PubMed:7679927). May contribute 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). Omega-hydroxylates (9R,10S)-epoxy-octadecanoate stereoisomer (PubMed:15145985). Plays a minor role in omega-oxidation of long-chain 3-hydroxy fatty acids (PubMed:18065749). Has little activity toward prostaglandins A1 and E1 (PubMed:7679927)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; CYP4A11 is involved in the development of nonalcoholic fatty liver disease via ROSinduced lipid peroxidation and inflammation., [RefSeq, PubMed]; Haplotype G-C-A of CYP4A11 was associated with increased risk of coronary artery disease. Publication Status: Online-Only, [RefSeq, PubMed]; Mutation in CYP4A11 gene is associated with cetuximab resistance in colorectal cancer., [RefSeq, PubMed]; The role of cytochrome P450 gene rs1126742 polymorphism and risk of hypertension: a systematic review and meta-analysis., [RefSeq, PubMed]; The rs1126742 T/C polymorphism of CYP4A11 is more likely to be a genetic risk factor for the hypertension cases in the Caucasian population. Moreover, whereas the AG genotype of CYP4A11 rs9332978 may be associated with an increased risk of hypertension, the AA genotype of rs9333025 may be linked to a decreased risk of cardiovascular and cerebrovascular diseases. [meta-analysis], [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 medium-chain fatty acids such as laurate and myristate. Multiple transcript variants 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": 2, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 4, "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": "Q06766;Q16865;Q16866;Q5VSP8;Q86SU6;Q8IWY5", "ec_number_list": "1.14.14.1;4.2.1.152;1.14.13.n7;1.14.14.55;1.14.14.56;1.14.14.73;1.14.14.-;1.14.14.51;1.14.14.52;1.14.14.53;1.14.14.75;1.14.14.78;1.14.14.79;1.14.14.94;1.14.14.80;2.3.1.48;3.6.4.-;1.14.14.177;1.14.14.130;2.1.1.319;2.3.1.-;2.1.1.-;3.1.13.1;5.6.2.6;3.6.4.13", "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:0097267 omega-hydroxylase P450 pathway;GO:0046456 icosanoid biosynthetic process;GO:0001676 long-chain fatty acid metabolic process;GO:0003091 renal water homeostasis;GO:0006631 fatty acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "Q02928-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A9UHW6-1", "uniprot_id": "MI4GD_HUMAN", "mass": 25423.0, "length": 222, "protein_name": "MIF4G domain-containing protein", "gene_name": "MIF4GD", "organism": "Human", "refseq_name": "MIF4G domain-containing protein isoform 1", "refseq_ac": "NP_001229427", "gene_names_uniprotkb": "MIF4GD; SLIP1", "gene_names_refseq": "AD023; MIF4GD; MIFD; SLIP1", "protein_names_uniprotkb": "MIF4G domain-containing protein; SLBP-interacting protein 1; hSLIP1", "protein_names_refseq": "MIF4G domain-containing protein isoform 1; MIF4G domain-containing protein; SLBP (stem loop binding protein)-interacting protein 1; SLBP-interacting protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:57409)", "pathway_count": 1, "publication_count": 46, "publication_id_list": "11237011;18025107;22424782;23481700;24715725;25418920;26992070;27846572;27862975;27920218;28228285;28514659;28832583;28904123;29242379;29393594;29493099;29557506;29632046;29786170;30315122;30429286;31154438;31530632;31844290;31848261;32157095;32265295;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33392160;33717175;33968037;34171305;34405274;34509645;34561969;35051231;35561310;35580925;37938771", "class_list": "", "function": "Downregulation of endogenous SLIP1 reduces the rate of translation of endogenous histone mRNA and also reduces cell viability., [RefSeq, PubMed]; Functions in replication-dependent translation of histone mRNAs which differ from other eukaryotic mRNAs in that they do not end with a poly-A tail but a stem-loop. May participate in circularizing those mRNAs specifically enhancing their translation., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a protein which interacts with the N-terminus of the stem-loop binding protein (SLBP) and the 3' end of histone mRNA. This interaction facilitates the activation of histone mRNA translation. 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "B4DUM7;Q8N4Q5;Q9HBL5", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0042802 identical protein binding;GO:0008494 translation activator activity", "go_cellular_component": "GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0062073 histone mRNA stem-loop binding complex", "go_biological_process": "GO:0006446 regulation of translational initiation;GO:0002191 cap-dependent translational initiation;GO:0006417 regulation of translation", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "A9UHW6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P10632-1", "uniprot_id": "CP2C8_HUMAN", "mass": 55825.0, "length": 490, "protein_name": "Cytochrome P450 2C8", "gene_name": "CYP2C8", "organism": "Human", "refseq_name": "cytochrome P450 2C8 isoform a", "refseq_ac": "NP_000761", "gene_names_uniprotkb": "CYP2C8", "gene_names_refseq": "CPC8; CYP2C8DM; CYP2C8; CYPIIC8; MP-12/MP-20", "protein_names_uniprotkb": "Cytochrome P450 2C8; 1.14.14.1; CYPIIC8; Cytochrome P450 IIC2; Cytochrome P450 MP-12; Cytochrome P450 MP-20; Cytochrome P450 form 1; S-mephenytoin 4-hydroxylase", "protein_names_refseq": "P450 form 1; cytochrome P450 2C8 isoform a; cytochrome P450 2C8; cytochrome P450 IIC2; cytochrome P450 MP-12; cytochrome P450 MP-20; cytochrome P450 form 1; cytochrome P450, family 2, subfamily C, polypeptide 8; cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8; flavoprotein-linked monooxygenase; microsomal monooxygenase; s-mephenytoin 4-hydroxylase; xenobiotic monooxygenase", "tax_id": 9606, "disease": "chromosome 1q21.1 deletion syndrome (Disease Ontology:DOID:0060411); renal hypertension (Disease Ontology:DOID:1073); end stage renal disease (Disease Ontology:DOID:783); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:1558); (R-HSA-211981); (R-HSA-211999); (R-HSA-2142670); (R-HSA-2142816); (R-HSA-9027307); (R-HSA-9749641)", "pathway_count": 7, "publication_count": 102, "publication_id_list": "10220572;10383923;10434065;10731522;10741631;11093772;11237011;11581266;11668219;11701230;12429347;12432928;12464245;12468260;12616642;12629583;13741103;14559847;14660610;14676196;15096040;15196988;15258110;15365656;15365880;15454734;15469410;15611369;15665333;15766564;16258079;16359177;1664256;16837570;16858120;16943252;1707679;17482904;1783992;18413310;19836360;19965576;19965612;2009263;2025243;21112969;21839062;2216732;22674043;24275569;25200603;25840124;26427316;26992070;2729895;28677105;29557506;30779550;31154438;31844290;3196692;3342084;3500169;35051231;35580925;36286958;36587509;3697070;3705620;37175734;37686184;38772712;497175;5013373;5773090;5862532;6220203;6777177;6838677;7206363;7217086;7574697;7625847;7802672;7903454;8627510;8631948;8637342;8647857;8975785;9028626;9103523;9144407;9247584;931988;9435160;9618440;9644715;975718;9842986;9866708;9884161", "class_list": "", "function": "A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids, steroid hormones and vitamins (PubMed:11093772, PubMed:14559847, PubMed:15766564, PubMed:19965576, PubMed:7574697). 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) (PubMed:11093772, PubMed:14559847, PubMed:15766564, PubMed:19965576, PubMed:7574697). Primarily catalyzes the epoxidation of double bonds of polyunsaturated fatty acids (PUFA) with a preference for the last double bond (PubMed:15766564, PubMed:19965576, PubMed:7574697). Catalyzes the hydroxylation of carbon-hydrogen bonds. Metabolizes all trans-retinoic acid toward its 4-hydroxylated form (PubMed:11093772). Displays 16-alpha hydroxylase activity toward estrogen steroid hormones, 17beta-estradiol (E2) and estrone (E1) (PubMed:14559847). Plays a role in the oxidative metabolism of xenobiotics. It is the principal enzyme responsible for the metabolism of the anti-cancer drug paclitaxel (taxol) (PubMed:26427316)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; CYP2C8 and CYP2J2 gene variations increase the risk of hypertensive intracerebral hemorrhage., [RefSeq, PubMed]; Functional Characterization of Allelic Variations of Human Cytochrome P450 2C8 (V181I, I244V, I331T, and L361F). Publication Status: Online-Only, [RefSeq, PubMed]; Potential Association of Cytochrome P450 Copy Number Alteration in Tumour with Chemotherapy Resistance in Lung Adenocarcinoma Patients. Publication Status: Online-Only, [RefSeq, PubMed]; The Cytochrome P450 2C8*3 Variant (rs11572080) Is Associated with Improved Asthma Symptom Control in Children and Altered Lipid Mediator Production and Inflammatory Response in Human Bronchial Epithelial Cells. 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 its expression is induced by phenobarbital. The enzyme is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, benzo(a)pyrene, 7-ethyoxycoumarin, and the anti-cancer drug taxol. This gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]., [RefSeq]; [Evaluation of the association of polymorphisms of the CYP2C8 gene with the efficacy and safety of ketorolac in patients with postoperative pain syndrome]. 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K9N8;B0AZN2;B7Z1F6;Q5VX93;Q8WWB1;Q9UCZ9", "ec_number_list": "1.14.14.1;4.2.1.152;1.14.13.n7;1.14.14.55;1.14.14.56;1.14.14.73;1.14.14.-;1.14.14.51;1.14.14.52;1.14.14.53;1.14.13.-;1.14.14.75;5.4.4.7;1.14.14.74;1.14.14.78;1.14.14.79;1.14.14.94;1.14.14.80;1.14.14.130;5.3.99.5", "go_molecular_function": "GO:0008401 retinoic acid 4-hydroxylase activity;GO:0101020 estrogen 16-alpha-hydroxylase activity;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_cellular_component": "GO:0005737 cytoplasm;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0002933 lipid hydroxylation;GO:0008210 estrogen metabolic process;GO:0097267 omega-hydroxylase P450 pathway;GO:0046456 icosanoid biosynthetic process;GO:0042572 retinol metabolic process", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "P10632-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H0W8-1", "uniprot_id": "SMG9_HUMAN", "mass": 57651.0, "length": 520, "protein_name": "Nonsense-mediated mRNA decay factor SMG9", "gene_name": "SMG9", "organism": "Human", "refseq_name": "nonsense-mediated mRNA decay factor SMG9", "refseq_ac": "NP_061981", "gene_names_uniprotkb": "SMG9; C19orf61", "gene_names_refseq": "C19orf61; F17127_1; HBMS; NEDITPO; SMG9", "protein_names_uniprotkb": "Nonsense-mediated mRNA decay factor SMG9", "protein_names_refseq": "nonsense-mediated mRNA decay factor SMG9; protein smg-9 homolog", "tax_id": 9606, "disease": "hepatocellular carcinoma (Disease Ontology:DOID:684); heart and brain malformation syndrome (MONDO:MONDO:0014833); neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies (MONDO:MONDO:0859274)", "pathway": " (hsa:56006); (R-HSA-975957)", "pathway_count": 2, "publication_count": 140, "publication_id_list": "11230166;11237011;11331269;11532962;11544179;11546874;11551508;12417715;12554878;12718880;12832468;14527413;14636577;14742663;14973490;15034551;15546618;15592455;15721257;16186820;16209946;16284618;16452507;16601204;17053788;17081983;17352659;17363904;17803942;17893241;18066079;18256688;18423202;18524595;18657639;18669648;18691976;18974281;19060897;19150429;19359157;19413330;19417104;19478851;19503078;19556969;19651622;19664994;19690332;19859661;19909264;20023408;20058876;20068231;20479275;20691628;20817927;20930030;21145460;21245168;21406692;21419344;21640080;23085078;23186163;23234702;24275569;24366607;24714562;25220460;25418920;25576301;25880248;25892735;26154972;26375851;26728094;26811146;26929215;26992070;27018474;27846572;27920218;28063628;28218747;28228285;28832583;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29769354;29786170;30315122;30410026;30429286;30484775;31154438;31530632;31844290;31848261;32157095;32265295;32357974;32387766;32488085;32897882;32938616;32938750;32983136;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33968037;33981976;34087483;34146907;34171305;34509645;34561969;34761517;34932366;35051231;35087184;35254053;35321723;35561310;35580925;36010968;36215666;36241641;36284347;37653170", "class_list": "", "function": "A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development., [RefSeq, PubMed]; Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait., [RefSeq, PubMed]; IQGAP1 protein, an actin cytoskeleton modifier acts as a binding partner with SMG-9 and this binding is regulated by phosphorylation of SMG-9 at Tyr-41., [RefSeq, PubMed]; Identification of a novel compound heterozygous SMG9 variants in a Chinese family with heart and brain malformation syndrome using whole exome sequencing. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons (PubMed:19417104). Is recruited by release factors to stalled ribosomes together with SMG1 and SMG8 (forming the SMG1C protein kinase complex) and, in the SMG1C complex, is required for the efficient association between SMG1 and SMG8 (PubMed:19417104). Plays a role in brain, heart, and eye development (By similarity)., [UniProtKB, PubMed, UniProtKB]; SMG9 drives ferroptosis by directly inhibiting GPX4 degradation., [RefSeq, PubMed]; This gene encodes a regulatory subunit of the SMG1 complex, which plays a critical role in nonsense-mediated mRNA decay (NMD). Binding of the encoded protein to the SMG1 complex kinase scaffold protein results in the inhibition of its kinase activity. Mutations in this gene cause a multiple congenital anomaly syndrome in human patients, characterized by brain malformation, congenital heart disease and other features. [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": 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": 14, "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": "O60429;Q9H9A9", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0007507 heart development;GO:0043066 negative regulation of apoptotic process;GO:0007420 brain development;GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;GO:0001654 eye development", "synthesized_glycan_count": 0, "hit_score": 14.3, "record_id": "Q9H0W8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P16284-1", "uniprot_id": "PECA1_HUMAN", "mass": 82522.0, "length": 738, "protein_name": "Platelet endothelial cell adhesion molecule", "gene_name": "PECAM1", "organism": "Human", "refseq_name": "platelet endothelial cell adhesion molecule precursor", "refseq_ac": "NP_000433", "gene_names_uniprotkb": "PECAM1", "gene_names_refseq": "CD31/EndoCAM; CD31; GPIIA'; PECA1; PECAM-1; PECAM1; endoCAM", "protein_names_uniprotkb": "Platelet endothelial cell adhesion molecule; EndoCAM; GPIIA'; PECA1; PECAM-1", "protein_names_refseq": "CD31 antigen; platelet endothelial cell adhesion molecule precursor; platelet endothelial cell adhesion molecule-1", "tax_id": 9606, "disease": "pterygium (Disease Ontology:DOID:0002116); chronic venous insufficiency (Disease Ontology:DOID:0050853); sickle cell anemia (Disease Ontology:DOID:10923); polycystic ovary syndrome (Disease Ontology:DOID:11612); common variable immunodeficiency (Disease Ontology:DOID:12177); autistic disorder (Disease Ontology:DOID:12849); eosinophilic esophagitis (Disease Ontology:DOID:13922); atherosclerosis (Disease Ontology:DOID:1936); ovarian cancer (Disease Ontology:DOID:2394); orchitis (Disease Ontology:DOID:2518); severe acute respiratory syndrome (Disease Ontology:DOID:2945); neurilemmoma (Disease Ontology:DOID:3192); coronary artery disease (Disease Ontology:DOID:3393); lung non-small cell carcinoma (Disease Ontology:DOID:3908); systemic scleroderma (Disease Ontology:DOID:418); coronary stenosis (Disease Ontology:DOID:4248); liver cirrhosis (Disease Ontology:DOID:5082); myocardial infarction (Disease Ontology:DOID:5844); pulmonary hypertension (Disease Ontology:DOID:6432); neuroblastoma (Disease Ontology:DOID:769); varicose veins (Disease Ontology:DOID:799); osteoarthritis (Disease Ontology:DOID:8398); polymyalgia rheumatica (Disease Ontology:DOID:853); chronic myeloid leukemia (Disease Ontology:DOID:8552); myeloid leukemia (Disease Ontology:DOID:8692); bacterial pneumonia (Disease Ontology:DOID:874); psoriatic arthritis (Disease Ontology:DOID:9008); babesiosis (Disease Ontology:DOID:9643)", "pathway": " (hsa:5175); (R-HSA-114608); (R-HSA-202733); (R-HSA-210990); (R-HSA-216083); (R-HSA-432142); (R-HSA-6798695); (R-HSA-9856530)", "pathway_count": 8, "publication_count": 229, "publication_id_list": "10209034;10350061;10366422;10376603;10425179;10438935;10543983;10593924;10605720;10606205;10639123;10640428;10649434;10673366;10704309;10713152;10754332;10764623;10764742;10811134;10858437;10982388;11158588;11207550;11237011;11256994;11518510;11564780;11572855;11713259;11779189;11791967;11812992;11853546;11968001;11980922;12070135;12110892;12176338;12208882;12433657;12469115;12496264;12535670;12585966;12682293;12724311;12775720;12782713;12807887;12972546;1435334;14529530;14615387;14630798;15000751;15240572;15297306;15304325;15330449;15345499;15383545;15459198;15528364;15681301;15713743;15718470;15721307;1588291;15899827;1591491;16002701;16051604;16239428;16258728;16297198;16585556;16691243;16731527;16731529;16737840;16754661;16780920;16783819;1690453;16933105;1700999;17064312;17099249;17116209;17139370;17167768;17172599;17212705;17322099;17339034;17339487;17379836;17442946;17452516;17505016;17525755;17563375;17580308;17600130;17615384;17625065;17968485;18088087;18388311;18672896;18710921;18710925;1874786;18775695;19020623;19159218;19279206;19342684;19349973;19502598;19723632;20033473;2010551;20705068;21193412;21464369;21659548;22496122;22539938;22884367;23090970;23374253;2351935;23640497;23650620;23945545;24043627;24190977;24764293;2538457;25548167;26702061;27397612;27452731;27566546;27797339;27862975;27958302;28832583;29242379;29314611;29351928;29391424;29557506;29632711;29671580;29741879;30429286;31205027;32296767;32350084;32387766;32938616;32983136;33043033;33392160;33936100;34357683;34499618;34509645;35051231;35154160;35195045;35251023;35580925;36284347;37074911;37580771;37658225;37938771;38153414;38748682;39181201;468991;6457647;7505120;7509040;7521878;7525578;7541634;7542249;7559467;7685013;7876172;7994021;8118028;8163559;8166770;8226797;8314844;8344274;8467233;8532023;8560266;8692836;8700127;8798654;8838667;8910476;9052782;9054388;9162084;9169774;9242610;9251239;9252369;9295288;9298995;9312087;9382878;9443892;9565552;9620797;9624175;9693095;9763524;9774457;9858236", "class_list": "glycogene", "function": "CD31 defines a subpopulation of human adipose-derived regenerative cells with potent angiogenic effects. Publication Status: Online-Only, [RefSeq, PubMed]; Cell adhesion molecule which is required for leukocyte transendothelial migration (TEM) under most inflammatory conditions (PubMed:17580308, PubMed:19342684). Tyr-690 plays a critical role in TEM and is required for efficient trafficking of PECAM1 to and from the lateral border recycling compartment (LBRC) and is also essential for the LBRC membrane to be targeted around migrating leukocytes (PubMed:19342684). Trans-homophilic interaction may play a role in endothelial cell-cell adhesion via cell junctions (PubMed:27958302). Heterophilic interaction with CD177 plays a role in transendothelial migration of neutrophils (PubMed:17580308). Homophilic ligation of PECAM1 prevents macrophage-mediated phagocytosis of neighboring viable leukocytes by transmitting a detachment signal (PubMed:12110892). Promotes macrophage-mediated phagocytosis of apoptotic leukocytes by tethering them to the phagocytic cells; PECAM1-mediated detachment signal appears to be disabled in apoptotic leukocytes (PubMed:12110892). Modulates bradykinin receptor BDKRB2 activation (PubMed:18672896). Regulates bradykinin- and hyperosmotic shock-induced ERK1/2 activation in endothelial cells (PubMed:18672896). Induces susceptibility to atherosclerosis (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Does not protect against apoptosis., [UniProtKB, PubMed]; Effects of Nox4 upregulation on PECAM-1 expression in a mouse model of diabetic retinopathy. Publication Status: Online-Only, [RefSeq, PubMed]; Expression of CD31, CD34, and smooth muscle actin (SMA) in endothelial cells of dental pulp vessels. Publication Status: Online-Only, [RefSeq, PubMed]; Increased shedding of PECAM-1 associated with elevated serum MMP-14 levels as new blood indicators of dengue disease manifestation., [RefSeq, PubMed]; PECAM-1 drives beta-catenin-mediated EndMT via internalization in colon cancer with diabetes mellitus. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is found on the surface of platelets, monocytes, neutrophils, and some types of T-cells, and makes up a large portion of endothelial cell intercellular junctions. The encoded protein is a member of the immunoglobulin superfamily and is likely involved in leukocyte migration, angiogenesis, and integrin activation. [provided by RefSeq, May 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": 8, "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": 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": 9, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 406, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 84, "disease_count": 28, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "A0A075B738;A8K3S7;D3DU31;Q6LDA9;Q8TBH1;Q96RF5;Q96RF6;Q9NP65;Q9NPB7;Q9NPG9;Q9NQS9;Q9NQT0;Q9NQT1;Q9NQT2", "ec_number_list": "", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0042803 protein homodimerization activity;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0045121 membrane raft;GO:0070062 extracellular exosome", "go_biological_process": "GO:0061028 establishment of endothelial barrier;GO:0006955 immune response;GO:0007165 signal transduction;GO:0007166 cell surface receptor signaling pathway;GO:0030335 positive regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 32.3, "record_id": "P16284-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y487-1", "uniprot_id": "VPP2_HUMAN", "mass": 98082.0, "length": 856, "protein_name": "V-type proton ATPase 116 kDa subunit a 2", "gene_name": "ATP6V0A2", "organism": "Human", "refseq_name": "V-type proton ATPase 116 kDa subunit a 2 isoform 1", "refseq_ac": "NP_036595", "gene_names_uniprotkb": "ATP6V0A2", "gene_names_refseq": "A2; ARCL2A; ARCL; ATP6A2; ATP6N1D; ATP6V0A2; J6B7; RTF; STV1; TJ6M; TJ6S; TJ6; VPH1; WSS; a2V", "protein_names_uniprotkb": "V-type proton ATPase 116 kDa subunit a 2; Lysosomal H(+)-transporting ATPase V0 subunit a 2; TJ6; V-ATPase 116 kDa subunit a 2; Vacuolar proton translocating ATPase 116 kDa subunit a isoform 2", "protein_names_refseq": "A2V-ATPase; ATPase, H+ transporting, lysosomal V0 subunit a2; V-ATPase 116 kDa subunit a 2; V-ATPase 116 kDa subunit a2; V-ATPase subunit a2; V-type proton ATPase 116 kDa subunit a 2 isoform 1; V-type proton ATPase 116 kDa subunit a 2; V-type proton ATPase 116 kDa subunit a2; lysosomal H(+)-transporting ATPase V0 subunit a 2; lysosomal H(+)-transporting ATPase V0 subunit a2; regeneration and tolerance factor; v-type proton ATPase 116 kDa subunit a; vacuolar proton translocating ATPase 116 kDa subunit a", "tax_id": 9606, "disease": "autosomal recessive cutis laxa type IIA (Disease Ontology:DOID:0070134); autosomal recessive osteopetrosis 1 (Disease Ontology:DOID:0110942); wrinkly skin syndrome (Disease Ontology:DOID:0112171); renal tubular acidosis (Disease Ontology:DOID:14219); Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:23545); (R-HSA-1222556); (R-HSA-77387); (R-HSA-917977); (R-HSA-983712)", "pathway_count": 5, "publication_count": 118, "publication_id_list": "10.1101/2023.09.13.557529;10029572;10409623;10802645;11237011;11237855;11779865;11800564;11970843;12531241;16227996;16271887;16415858;16564538;16574064;16609065;16793765;17051221;17081983;17295899;17525332;17662945;17729390;18157129;18406720;18452278;18669648;18794901;19089323;19321446;20134026;21124855;22087256;23186163;23481700;24190977;25418920;25576301;25880248;26205815;26811146;26824387;26929215;26992070;27846572;27920218;28024296;28063628;28218747;28228285;2825632;28296633;2848506;28514659;28832583;28904123;29242379;29317506;29371260;29393594;29437277;29557506;29596046;29632046;29741879;2986535;30315122;30337524;30410026;30484775;3061785;31611695;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;34171305;34357683;34509645;34932366;35051231;35154160;35561310;35580925;36010968;36241641;37074911;37119015;37340703;37938771;38396846;38598037;40596516;6141558;6309857;7929063;7980580;8300632;8537108;8682206;8995282;9465039;9609117;9793760", "class_list": "", "function": "Essential component of the vacuolar proton pump (V-ATPase), a multimeric enzyme that catalyzes the translocation of protons across the membranes. Required for assembly and activity of the V-ATPase., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Identification of a novel intronic variant of ATP6V0A2 in a Han-Chinese family with cutis laxa. Publication Status: Online-Only, [RefSeq, PubMed]; Subunit of the V0 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 (By similarity). 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 (By similarity). Essential component of the endosomal pH-sensing machinery (PubMed:16415858). May play a role in maintaining the Golgi functions, such as glycosylation maturation, by controlling the Golgi pH (PubMed:18157129). In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation (PubMed:28296633)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, UniProtKB]; The Human Mutation K237_V238del in a Putative Lipid Binding Motif within the V-ATPase a2 Isoform Suggests a Molecular Mechanism Underlying Cutis Laxa. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. [provided by RefSeq, Jul 2009]., [RefSeq]; Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families., [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": 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": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 5, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A8K026;Q6NUM0", "ec_number_list": "", "go_molecular_function": "GO:0051117 ATPase binding;GO:0046961 proton-transporting ATPase activity, rotational mechanism", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005886 plasma membrane;GO:0048471 perinuclear region of cytoplasm;GO:0005765 lysosomal membrane;GO:0030670 phagocytic vesicle membrane", "go_biological_process": "GO:0006955 immune response;GO:0006879 intracellular iron ion homeostasis;GO:0016241 regulation of macroautophagy;GO:0036295 cellular response to increased oxygen levels;GO:0007035 vacuolar acidification", "synthesized_glycan_count": 0, "hit_score": 13.1, "record_id": "Q9Y487-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P52756-1", "uniprot_id": "RBM5_HUMAN", "mass": 92154.0, "length": 815, "protein_name": "RNA-binding protein 5", "gene_name": "RBM5", "organism": "Human", "refseq_name": "RNA-binding protein 5", "refseq_ac": "NP_005769", "gene_names_uniprotkb": "RBM5; H37; LUCA15", "gene_names_refseq": "G15; H37; LUCA-15; LUCA15; RBM5; RMB5", "protein_names_uniprotkb": "RNA-binding protein 5; Protein G15; Putative tumor suppressor LUCA15; RNA-binding motif protein 5; Renal carcinoma antigen NY-REN-9", "protein_names_refseq": "RNA-binding protein 5; putative tumor suppressor LUCA15; renal carcinoma antigen NY-REN-9", "tax_id": 9606, "disease": "", "pathway": " (hsa:10181); (R-HSA-72163); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 4, "publication_count": 208, "publication_id_list": "10486216;10497265;10508479;10669729;10882114;10949932;11014198;11060040;11101529;11233976;11237011;11747608;11991638;12176931;12207175;12411573;12414731;12477934;12581154;14519844;14625303;14713954;14749727;14762106;15037765;15084397;15192330;15565158;16314458;16585163;16809785;16927403;17081983;17095540;17128255;17332742;17606309;17606899;18220336;18288197;18322460;18452278;18593880;18669648;18691976;18840686;18851835;19103666;19165350;19217410;19413330;19415658;19536130;19651622;19664994;19664995;19690332;20058876;20068231;20423332;20695905;20980672;21256132;21295486;21406692;21536652;2176635;21911577;22110043;22365833;22813749;22959432;22961380;23186163;23222130;23236153;23345524;23481700;23874216;24076191;24149845;24196718;24275569;24304693;24397554;24448447;24715725;24737827;24914973;25301780;25301781;25555158;25576301;2558966;25645385;25880248;25892735;26092250;26375851;26385511;26420826;26969736;26992070;27108190;27377154;27459055;27683217;28062851;28076346;28096519;28228285;28502770;28514659;28781166;28832583;28904123;28911096;29186539;29242379;29274231;29301961;29360106;29361316;29393594;29437277;29493099;29557506;29632711;2963332;29786170;29902443;30139799;30257008;30315122;30315277;30379171;30429286;30484775;30599162;30705154;30728453;30765414;30975767;31217245;31409651;31844290;31848261;32119511;32157095;32179686;32265295;32329775;32357974;32387766;32488085;32494006;32502341;32816001;32938616;32983136;33123756;33177556;33243851;33298915;33446560;33592498;33691108;33717175;33912179;33968037;33981976;34019948;34087483;34171305;34301950;34509645;34725712;34822310;34932366;35051231;35177536;35215846;35318648;35385551;35561310;35580925;36010968;36241641;36284347;3757028;37938771;38272235;38619681;38665916;38742685;40307207;40914422;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9659921;9671485;9701291;9731529", "class_list": "", "function": "CHIP suppresses the proliferation and migration of A549 cells by mediating the ubiquitination of eIF2alpha and upregulation of tumor suppressor RBM5., [RefSeq, PubMed]; Component of the spliceosome A complex. Binds to ssRNA containing the consensus sequence 5'-AGGUAA-3' (PubMed:21256132). Regulates alternative splicing of a number of mRNAs. May modulate splice site pairing after recruitment of the U1 and U2 snRNPs to the 5' and 3' splice sites of the intron. May both positively and negatively regulate apoptosis by regulating the alternative splicing of several genes involved in this process, including FAS and CASP2/caspase-2. In the case of FAS, promotes exclusion of exon 6 thereby producing a soluble form of FAS that inhibits apoptosis. In the case of CASP2/caspase-2, promotes exclusion of exon 9 thereby producing a catalytically active form of CASP2/Caspase-2 that induces apoptosis., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; FTO blocks RNA translational activity via the loss of N6-methyladenosine methylation at 5' UTR regulated by RBM5 in cisplatin-resistant NSCLC., [RefSeq, PubMed]; Specific allele types at C1138T and C2185T single nucleotide polymorphisms positions are correlated with different histological subtypes of non-small cell lung cancer, [RefSeq, PubMed]; This gene is a candidate tumor suppressor gene which encodes a nuclear RNA binding protein that is a component of the spliceosome A complex. The encoded protein plays a role in the induction of cell cycle arrest and apoptosis through pre-mRNA splicing of multiple target genes including the tumor suppressor protein p53. This gene is located within the tumor suppressor region 3p21.3, and may play a role in the inhibition of tumor transformation and progression of several malignancies including lung cancer. [provided by RefSeq, Oct 2011]., [RefSeq]; ZNF554 Inhibits Endometrial Cancer Progression via Regulating RBM5 and Inactivating WNT/beta-Catenin 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": 15, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "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": "B2RA45;B4DM16;B4DMF9;B4DZ63;Q93021;Q9BU14;Q9HDA6;Q9UKY8;Q9UL24", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0008270 zinc ion binding;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005681 spliceosomal complex", "go_biological_process": "GO:0006396 RNA processing;GO:0008285 negative regulation of cell population proliferation;GO:0043065 positive regulation of apoptotic process;GO:0006915 apoptotic process;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 21.1, "record_id": "P52756-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q04900-1", "uniprot_id": "MUC24_HUMAN", "mass": 20917.0, "length": 197, "protein_name": "Sialomucin core protein 24", "gene_name": "CD164", "organism": "Human", "refseq_name": "sialomucin core protein 24 isoform 6", "refseq_ac": "NP_001333429", "gene_names_uniprotkb": "CD164", "gene_names_refseq": "CD164; DFNA66; MGC-24v; MGC-24; MUC-24; endolyn", "protein_names_uniprotkb": "Sialomucin core protein 24; Endolyn; MGC-24v; MGC-24; MUC-24; Multi-glycosylated core protein 24", "protein_names_refseq": "CD164 antigen, sialomucin; multi-glycosylated core protein 24; sialomucin core protein 24 isoform 6; sialomucin core protein 24", "tax_id": 9606, "disease": "autosomal dominant nonsyndromic deafness 66 (Disease Ontology:DOID:0110587)", "pathway": " (hsa:8763)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10878358;11027692;11237011;1478919;16859559;17077324;23584533;24190977;25418920;25813380;26154972;26197441;26929215;26992070;28218747;28832583;29242379;29437277;29632711;29741879;30410026;30429286;30459171;32350084;32726126;33125110;33592498;34357683;35235462;35251023;35254497;35502904;37074911;9763543", "class_list": "", "function": "CD164 is a host factor for lymphocytic choriomeningitis virus entry., [RefSeq, PubMed]; Genome-Wide Knockout Screen Identifies Human Sialomucin CD164 as an Essential Entry Factor for Lymphocytic Choriomeningitis Virus., [RefSeq, PubMed]; Long non-coding RNA LINC00152/miR-613/CD164 axis regulates cell proliferation, apoptosis, migration and invasion in glioma via PI3K/AKT pathway., [RefSeq, PubMed]; RP11619L19.2 promotes colon cancer development by regulating the miR12715p/CD164 axis., [RefSeq, PubMed]; Sialomucin that may play a key role in hematopoiesis by facilitating the adhesion of CD34(+) cells to the stroma and by negatively regulating CD34(+)CD38(lo/-) cell proliferation. Modulates the migration of umbilical cord blood CD133+ cells and this is mediated through the CXCL12/CXCR4 axis. May play an important role in prostate cancer metastasis and the infiltration of bone marrow by cancer cells. Promotes myogenesis by enhancing CXCR4-dependent cell motility. Positively regulates myoblast migration and promotes myoblast fusion into myotubes (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; This gene encodes a transmembrane sialomucin and cell adhesion molecule that regulates the proliferation, adhesion and migration of hematopoietic progenitor cells. The encoded protein also interacts with the C-X-C chemokine receptor type 4 and may regulate muscle development. Elevated expression of this gene has been observed in human patients with Sezary syndrome, a type of blood cancer, and a mutation in this gene may be associated with impaired hearing. [provided by RefSeq, Oct 2016]., [RefSeq]; Update on CD164 and LMX1A genes to strengthen their causative role in autosomal dominant hearing loss., [RefSeq, PubMed]", "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": 6, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "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": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 36, "disease_count": 1, "glyco_site_count": 16, "binding_glycan_count": 0, "secondary_ac_list": "B4DQ85;E1P5E7;E1P5E8;E1P5E9;O95413;Q5JSU6;Q9BPV0;Q9NR26", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005768 endosome;GO:0005886 plasma membrane;GO:0005764 lysosome;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0006955 immune response;GO:0007155 cell adhesion;GO:0007162 negative regulation of cell adhesion;GO:0007165 signal transduction;GO:0007517 muscle organ development", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "Q04900-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z388-1", "uniprot_id": "D19L4_HUMAN", "mass": 83756.0, "length": 723, "protein_name": "Probable C-mannosyltransferase DPY19L4", "gene_name": "DPY19L4", "organism": "Human", "refseq_name": "probable C-mannosyltransferase DPY19L4", "refseq_ac": "NP_861452", "gene_names_uniprotkb": "DPY19L4", "gene_names_refseq": "DPY19L4", "protein_names_uniprotkb": "Probable C-mannosyltransferase DPY19L4; 2.4.1.-; Dpy-19-like protein 4; Protein dpy-19 homolog 4", "protein_names_refseq": "dpy-19-like protein 4; probable C-mannosyltransferase DPY19L4; protein dpy-19 homolog 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:286148)", "pathway_count": 1, "publication_count": 54, "publication_id_list": "10.1101/2023.09.13.557529;11237011;16526957;21136679;24190977;24397554;25576301;25645385;25880248;26375851;26992070;27846572;27862975;28218747;28228285;28832583;28834231;28904123;29242379;29437277;29557506;29632711;29741879;30315122;30410026;30429286;30524438;31217245;31844290;32157095;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33392160;33537174;33592498;33717175;33912179;33981976;34087483;34171305;34185709;34932366;35051231;35318648;35580925;36010968;36284347;37074911;37938771", "class_list": "glycogene;glycosyltransferase", "function": "Probable C-mannosyltransferase that mediates C-mannosylation of tryptophan residues on target proteins., [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": 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": 853, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 10, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q6ZW32;Q6ZW42;Q7Z329", "ec_number_list": "", "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": 6.8, "record_id": "Q7Z388-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96FC9-1", "uniprot_id": "DDX11_HUMAN", "mass": 108313.0, "length": 970, "protein_name": "ATP-dependent DNA helicase DDX11", "gene_name": "DDX11", "organism": "Human", "refseq_name": "ATP-dependent DNA helicase DDX11 isoform 3", "refseq_ac": "NP_001244073", "gene_names_uniprotkb": "DDX11; CHL1; CHLR1; KRG2", "gene_names_refseq": "CHL1; CHLR1; DDX11; KRG2; WABS", "protein_names_uniprotkb": "ATP-dependent DNA helicase DDX11; 5.6.2.3; CHL1-related protein 1; DEAD/H-box protein 11; DNA 5'-3' helicase DDX11; KRG-2; Keratinocyte growth factor-regulated gene 2 protein; hCHLR1", "protein_names_refseq": "ATP-dependent DNA helicase DDX11 isoform 3; CHL1-related helicase gene-1; CHL1-related protein 1; DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11; DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (CHL1-like helicase homolog, S. cerevisiae); DEAD/H box protein 11; DNA 5'-3' helicase DDX11; KRG-2; hCHLR1; keratinocyte growth factor-regulated gene 2 protein; probable ATP-dependent DNA helicase DDX11; probable ATP-dependent RNA helicase DDX11", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); Warsaw breakage syndrome (Disease Ontology:DOID:0060535); autosomal dominant neurodevelopmental disorder with or without hyperkinetic movements and seizures (Disease Ontology:DOID:0070038); developmental and epileptic encephalopathy 101 (Disease Ontology:DOID:0070387); Alzheimer's disease (Disease Ontology:DOID:10652); opioid abuse (Disease Ontology:DOID:11206); sciatic neuropathy (Disease Ontology:DOID:11446); neurodegenerative disease (Disease Ontology:DOID:1289); cognitive disorder (Disease Ontology:DOID:1561); alcohol use disorder (Disease Ontology:DOID:1574); status epilepticus (Disease Ontology:DOID:1824); middle cerebral artery infarction (Disease Ontology:DOID:3525); cerebral infarction (Disease Ontology:DOID:3526); placental insufficiency (Disease Ontology:DOID:3891); schizophrenia (Disease Ontology:DOID:5419); vascular dementia (Disease Ontology:DOID:8725)", "pathway": " (hsa:1663); (R-HSA-381038)", "pathway_count": 2, "publication_count": 84, "publication_id_list": "10601334;10648783;10827079;11237011;12204115;15466936;16461360;16539657;17105772;17189189;18499658;18664523;18669648;19651622;20068231;20124417;20137776;21282569;21854770;22102414;23033317;23116066;23186163;23797032;24714562;24715725;25576301;26089203;26154972;26503245;26811146;26992070;27477908;27862975;28904123;29493099;30315122;30429286;30779550;31092671;31154438;31222486;31530632;31848261;31937595;31998317;32157095;32161166;32502341;32705708;32897882;32938616;33141586;33298915;33537174;33592498;33691108;33912179;33936100;33968037;34087483;34171305;34211107;34299244;34405274;34509645;34561969;35051231;35318648;35561310;35580925;36010968;36215666;36241641;37993668;38478595;39090819;7590364;8666242;8798685;9013641;9037597;9450183;9473480", "class_list": "", "function": "(Microbial infection) Required for bovine papillomavirus type 1 regulatory protein E2 loading onto mitotic chromosomes during DNA replication for the viral genome to be maintained and segregated., [UniProtKB, PubMed]; DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]; DEAD/H-box helicase 11 is transcriptionally activated by Yin Yang-1 and accelerates oral squamous cell carcinoma progression., [RefSeq, PubMed]; DNA-dependent ATPase and ATP-dependent DNA helicase that participates in various functions in genomic stability, including DNA replication, DNA repair and heterochromatin organization as well as in ribosomal RNA synthesis (PubMed:10648783, PubMed:21854770, PubMed:23797032, PubMed:26089203, PubMed:26503245). Its double-stranded DNA helicase activity requires either a minimal 5'-single-stranded tail length of approximately 15 nt (flap substrates) or 10 nt length single-stranded gapped DNA substrates of a partial duplex DNA structure for helicase loading and translocation along DNA in a 5' to 3' direction (PubMed:10648783, PubMed:18499658, PubMed:22102414). The helicase activity is capable of displacing duplex regions up to 100 bp, which can be extended up to 500 bp by the replication protein A (RPA) or the cohesion CTF18-replication factor C (Ctf18-RFC) complex activities (PubMed:18499658). Also shows ATPase- and helicase activities on substrates that mimic key DNA intermediates of replication, repair and homologous recombination reactions, including forked duplex, anti-parallel G-quadruplex and three-stranded D-loop DNA molecules (PubMed:22102414, PubMed:26503245). Plays a role in DNA double-strand break (DSB) repair at the DNA replication fork during DNA replication recovery from DNA damage (PubMed:23797032). Recruited with TIMELESS factor upon DNA-replication stress response at DNA replication fork to preserve replication fork progression, and hence ensure DNA replication fidelity (PubMed:26503245). Also cooperates with TIMELESS factor during DNA replication to regulate proper sister chromatid cohesion and mitotic chromosome segregation (PubMed:17105772, PubMed:18499658, PubMed:20124417, PubMed:23116066, PubMed:23797032). Stimulates 5'-single-stranded DNA flap endonuclease activity of FEN1 in an ATP- and helicase-independent manner; and hence it may contribute in Okazaki fragment processing at DNA replication fork during lagging strand DNA synthesis (PubMed:18499658). Its ability to function at DNA replication fork is modulated by its binding to long non-coding RNA (lncRNA) cohesion regulator non-coding RNA DDX11-AS1/CONCR, which is able to increase both DDX11 ATPase activity and binding to DNA replicating regions (PubMed:27477908). Also plays a role in heterochromatin organization (PubMed:21854770). Involved in rRNA transcription activation through binding to active hypomethylated rDNA gene loci by recruiting UBTF and the RNA polymerase Pol I transcriptional machinery (PubMed:26089203). Plays a role in embryonic development and prevention of aneuploidy (By similarity). Involved in melanoma cell proliferation and survival (PubMed:23116066). Associates with chromatin at DNA replication fork regions (PubMed:27477908). Binds to single- and double-stranded DNAs (PubMed:18499658, PubMed:22102414, PubMed:9013641)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Expression of DDX11 and DNM1L at the 12p11 Locus Modulates Systemic Lupus Erythematosus Susceptibility. Publication Status: Online-Only, [RefSeq, PubMed]; Mapping of DDX11 genetic interactions defines sister chromatid cohesion as the major dependency., [RefSeq, PubMed]; Mutations in DEAD/H-box helicase 11 correlate with increased relapse risk in adults with acute myeloid leukaemia with normal cytogenetics., [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": 2, "reported_glycation": 0, "reported_snv": 17, "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": "Q13333;Q86VQ4;Q86W62;Q92498;Q92770;Q92998;Q92999", "ec_number_list": "5.6.2.4;3.6.1.-;3.6.4.-;3.6.4.13;3.6.4.6;3.6.1.5;2.7.7.7;2.7.7.49;3.6.4.10;3.1.3.1;3.9.1.1;4.2.99.18;5.6.1.6;5.6.2.3;3.6.4.12;3.4.21.53;5.6.2.5;3.1.-.-;3.6.5.-;7.6.2.1;2.3.2.27;7.2.2.-;5.6.2.-;2.3.2.-;2.7.11.1;3.6.1.15;3.1.4.-;3.6.-.-;3.4.24.-;3.1.13.1;5.6.2.6;3.4.-.-;2.7.4.3", "go_molecular_function": "GO:0003688 DNA replication origin binding;GO:0045142 triplex DNA binding;GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0005524 ATP binding", "go_cellular_component": "GO:0000922 spindle pole;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005813 centrosome;GO:0070062 extracellular exosome", "go_biological_process": "GO:0035563 positive regulation of chromatin binding;GO:0006281 DNA repair;GO:0006351 DNA-templated transcription;GO:0032091 negative regulation of protein binding;GO:0006974 DNA damage response", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "Q96FC9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P59103-1", "uniprot_id": "DAOA_HUMAN", "mass": 18108.0, "length": 153, "protein_name": "D-amino acid oxidase regulator", "gene_name": "DAOA", "organism": "Human", "refseq_name": "D-amino acid oxidase regulator isoform 2", "refseq_ac": "NP_001155284", "gene_names_uniprotkb": "DAOA; G72", "gene_names_refseq": "DAOA; LG72; SG72", "protein_names_uniprotkb": "D-amino acid oxidase regulator; Protein G72", "protein_names_refseq": "D-amino acid oxidase regulator isoform 2; D-amino acid oxidase regulator; schizophrenia- and bipolar disorder-associated protein G72", "tax_id": 9606, "disease": "bipolar disorder (Disease Ontology:DOID:3312); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:267012)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11237011;12364586;12647258;14759258;14966479;15121480;17684499;18544534;20521334;21679769;24362575;25078755;29114206;30037290;31520071;32748316;34681579;37805834", "class_list": "", "function": "A decrease in the synaptic concentration of d-serine as the result of an anomalous increase in hDAAO activity related to hypoexpression of pLG72 may represent a molecular mechanism by which hDAAO and pLG72 are involved in schizophrenia susceptibility, [RefSeq, PubMed]; D-Amino Acids and pLG72 in Alzheimer's Disease and Schizophrenia. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Data suggest that a susceptibility variant for bipolar illness exists in the vicinity of the G72/G30 genes, [RefSeq, PubMed]; Effect of DAOA genetic variation on white matter alteration in corpus callosum in patients with first-episode schizophrenia., [RefSeq, PubMed]; May suppress DAO (D-amino acid oxidase) and SOD1 activity and promote their degradation (PubMed:18544534, PubMed:20521334, PubMed:21679769, PubMed:30037290). Has conversely also been suggested to function as a DAO activator (PubMed:12364586, PubMed:24362575, PubMed:29114206). May stimulate the degradation of DDO (D-aspartate oxidase) (PubMed:37805834). May play a role in mitochondrial fission (PubMed:17684499)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; PLG72 levels increase in early phase of Alzheimer's disease but decrease in late phase. Publication Status: Online-Only, [RefSeq, PubMed]; Polymorphisms in the 13q33.2 gene G72/G30 are associated with childhood-onset schizophrenia and psychosis not otherwise specified. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The association of both DAAO and a new gene G72 from 13q34 with schizophrenia together with activation of DAAO activity by a G72 protein product points to the involvement of this N-methyl-d-aspartate receptor regulation pathway in schizophrenia. Erratum:[Proc Natl Acad Sci U S A 2002 Dec 24;99(26):17221. Ouelette, G [corrected to Ouellette, G]; Realson, J [corrected to Raelson, J]], [RefSeq, PubMed]; The association of variation at G72 with schizophrenia as well as bipolar disorder provides molecular support for the hypothesis that these two major psychiatric disorders share some of their etiologic background, [RefSeq, PubMed]; This gene encodes a protein that may function as an activator of D-amino acid oxidase, which degrades the gliotransmitter D-serine, a potent activator of N-methyl-D-aspartate (NMDA) type glutamate receptors. Studies also suggest that one encoded isoform may play a role in mitochondrial function and dendritic arborization. Polymorphisms in this gene have been implicated in susceptibility to schizophrenia and bipolar affective disorder. Alternatively spliced transcript variants encoding different isoforms have been identified.[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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "A6NKG7;Q0VAE6;Q5VX59;Q86Y17;Q8IWM4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0045732 positive regulation of protein catabolic process;GO:0046416 D-amino acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "P59103-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y6A2-1", "uniprot_id": "CP46A_HUMAN", "mass": 56821.0, "length": 500, "protein_name": "Cholesterol 24-hydroxylase", "gene_name": "CYP46A1", "organism": "Human", "refseq_name": "cholesterol 24-hydroxylase", "refseq_ac": "NP_006659", "gene_names_uniprotkb": "CYP46A1; CYP46", "gene_names_refseq": "CP46; CYP46A1; CYP46", "protein_names_uniprotkb": "Cholesterol 24-hydroxylase; 1.14.14.25; CH24H; Cholesterol 24-monooxygenase; Cholesterol 24S-hydroxylase; Cytochrome P450 46A1", "protein_names_refseq": "CH24H; cholesterol 24-hydroxylase; cholesterol 24-monooxygenase; cholesterol 24S-hydroxylase; cytochrome P450 46A1; cytochrome P450, family 46, subfamily A, polypeptide 1; cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); intestinal cancer (Disease Ontology:DOID:10155); Alzheimer's disease (Disease Ontology:DOID:10652); alcohol use disorder (Disease Ontology:DOID:1574); asthma (Disease Ontology:DOID:2841); Goldenhar syndrome (Disease Ontology:DOID:2907); skin squamous cell carcinoma (Disease Ontology:DOID:3151); temporal lobe epilepsy (Disease Ontology:DOID:3328); skin disease (Disease Ontology:DOID:37); schizophrenia (Disease Ontology:DOID:5419); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:10858); (R-HSA-193775); (R-HSA-211976)", "pathway_count": 3, "publication_count": 54, "publication_id_list": "10051404;10377398;10479480;10588945;10655068;10748047;10749848;11060344;11067870;11158055;11237011;11555828;11980911;12077124;12679481;1400444;14640697;15042513;1708392;1741400;18621681;19661213;20149798;2019602;20667828;21636783;2256920;22772592;23288837;24715725;25017465;2592361;28190002;3024157;3038528;30620550;31844290;32816363;32983136;33091337;34185709;34546511;3487786;35580925;37909961;37938771;37944529;38592597;7508385;7649182;8619637;9536209;9578606;9660774", "class_list": "", "function": "Association of cholesterol 7alpha-hydroxylase (CYP7A1) promoter polymorphism (rs3808607) and cholesterol 24S-hydroxylase (CYP46A1) intron 2 polymorphism (rs754203) with serum lipids, vitamin D levels, and multiple sclerosis risk in the Turkish population., [RefSeq, PubMed]; Cholesterol 24-hydroxylase at the choroid plexus contributes to brain immune homeostasis., [RefSeq, PubMed]; Cytochrome P450 Family 46 Subfamily A Member 1 Promotes the Progression of Colorectal Cancer by Inducing Tumor Cell Proliferation and Angiogenesis., [RefSeq, PubMed]; Identification of CYP46A1 as a new regulator of lipid metabolism through CRISPR-based whole-genome screening., [RefSeq, PubMed]; P450 monooxygenase that plays a major role in cholesterol homeostasis in the brain. Primarily catalyzes the hydroxylation (with S stereochemistry) at C-24 of cholesterol side chain, triggering cholesterol diffusion out of neurons and its further degradation (PubMed:10377398, PubMed:14640697, PubMed:18621681, PubMed:25017465). By promoting constant cholesterol elimination in neurons, may activate the mevalonate pathway and coordinate the synthesis of new cholesterol and nonsterol isoprenoids involved in synaptic activity and learning (By similarity). Further hydroxylates cholesterol derivatives and hormone steroids on both the ring and side chain of these molecules, converting them into active oxysterols involved in lipid signaling and biosynthesis (PubMed:12077124, PubMed:14640697, PubMed:28190002). Acts as an epoxidase converting cholesta-5,24-dien-3beta-ol/desmosterol into (24S),25-epoxycholesterol, an abundant lipid ligand of nuclear NR1H2 and NR1H3 receptors shown to promote neurogenesis in developing brain (PubMed:25017465). May also catalyze the oxidative metabolism of xenobiotics, such as clotrimazole (PubMed:20667828)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; The Relationship Between CYP46A1 Polymorphism and Suicide Risk: A Preliminary Investigation. 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 is expressed in the brain, where it converts cholesterol to 24S-hydroxycholesterol. While cholesterol cannot pass the blood-brain barrier, 24S-hydroxycholesterol can be secreted in the brain into the circulation to be returned to the liver for catabolism. [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": 0, "reported_glycation": 0, "reported_snv": 16, "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": "B4DHP8;E7EQG9;Q8N2B0", "ec_number_list": "1.14.14.19;1.14.14.32;1.14.14.1;1.14.14.55;1.14.14.56;1.14.14.73;1.14.14.-;1.14.13.-;4.2.1.152;1.14.14.25", "go_molecular_function": "GO:0005506 iron ion binding;GO:0020037 heme binding;GO:0008395 steroid hydroxylase activity;GO:0033781 cholesterol 24-hydroxylase activity;GO:0050649 testosterone 6-beta-hydroxylase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0030425 dendrite;GO:0005789 endoplasmic reticulum membrane;GO:0098794 postsynapse;GO:0098793 presynapse", "go_biological_process": "GO:0006699 bile acid biosynthetic process;GO:0007399 nervous system development;GO:0006805 xenobiotic metabolic process;GO:0016125 sterol metabolic process;GO:0006707 cholesterol catabolic process", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q9Y6A2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P13584-1", "uniprot_id": "CP4B1_HUMAN", "mass": 58991.0, "length": 511, "protein_name": "Cytochrome P450 4B1", "gene_name": "CYP4B1", "organism": "Human", "refseq_name": "cytochrome P450 4B1 isoform b", "refseq_ac": "NP_000770", "gene_names_uniprotkb": "CYP4B1", "gene_names_refseq": "CYP4B1; CYPIVB1; P-450HP", "protein_names_uniprotkb": "Cytochrome P450 4B1; 1.14.14.1; CYPIVB1; Cytochrome P450 CYP4B1; Cytochrome P450-HP", "protein_names_refseq": "cytochrome P450 4B1 isoform b; cytochrome P450 4B1; cytochrome P450, family 4, subfamily B, polypeptide 1; cytochrome P450, subfamily IVB, polypeptide 1; cytochrome P450-HP; microsomal monooxygenase", "tax_id": 9606, "disease": "glycogen storage disease Ia (Disease Ontology:DOID:2749); hepatocellular carcinoma (Disease Ontology:DOID:684); type 2 diabetes mellitus (Disease Ontology:DOID:9352); steatotic liver disease (Disease Ontology:DOID:9452)", "pathway": " (hsa:1580); (R-HSA-211935); (R-HSA-211958); (R-HSA-211979); (R-HSA-2142691)", "pathway_count": 5, "publication_count": 75, "publication_id_list": "10064732;10405341;10779545;10791960;11160876;11162607;11237011;11844797;12142726;12695542;12711469;1359745;14660610;15006160;15548719;15604543;16436457;16677611;16795963;18065749;18184802;1848634;18647347;19743890;20436887;21447318;2298205;23076889;2574990;27046942;2753893;2768222;27862975;2836406;2864155;2866075;2877850;2882965;28904123;29133059;29557506;29786170;2995393;3006030;3020588;30669;3118366;3164719;32157095;33592039;33936100;35051231;35318648;35494241;35580925;3563417;36307788;36768362;37950293;38041008;3933675;6122208;6293969;6490615;7937884;8052639;8394361;8576264;8631948;8913342;8914854;9461497;9539102;9600267;9799565", "class_list": "", "function": "CYP4B1 is a prognostic biomarker and potential therapeutic target in lung adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; CYP4B1 polymorphisms and the risk of breast cancer in Chinese women: a case-control study. Publication Status: Online-Only, [RefSeq, PubMed]; Case-control study on CYP4B1 gene polymorphism and susceptibility to gastric cancer in the chinese Han population. Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the omega- and (omega-1)-hydroxylation of saturated fatty acids and n-alkanes (By similarity). Also bioactivates xenobiotics such as the procarcinogen 3-methoxy-4-aminoazobenzene and the cyclic arylamines 2-aminofluorene and 2-aminoanthracene (By similarity). In addition, catalyzes O-dealkylation of 7-ethoxycoumarin (By similarity). Functions at the interface of xenobiotic and endobiotic metabolism, contributing both to fatty acid and hydrocarbon oxidation and to the bioactivation of diverse xenobiotics. Preferentially hydroxylates the terminal carbon (omega-hydroxylation) of medium-chain fatty acids (C8-C10), with regioselectivity decreasing as chain length increases. C8 fatty acids and C7 n-alkanes display optimal chain length for regioselective omega-hydroxylation, and n-alkanes (C7-C10) are generally turned over faster and with higher regioselectivity than the corresponding fatty acids. In addition to omega/omega-1 hydroxylation, also catalyzes alpha-, beta-, gamma- and delta-hydroxylation of mid-chain length fatty acids, whereas fatty alcohols of the same chain length are almost exclusively hydroxylated at the omega, omega-1 and omega-2 positions (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Missense variants in CYP4B1 associated with increased risk of lung cancer among Chinese Han population. Publication Status: Online-Only, [RefSeq, PubMed]; Reviews ability of CYP4B1 to hydroxylate fatty acids and fatty alcohols, its role in xenobiotic and endobiotic metabolism, and its unusual heme-binding characteristics Review article 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. In rodents, the homologous protein has been shown to metabolize certain carcinogens; however, the specific function of the human protein has not been determined. Multiple transcript variants 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": 2, "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": "Q1HBI2;Q8TD85;Q8WWF2;Q8WWU9;Q8WWV0", "ec_number_list": "1.14.14.1;4.2.1.152;1.14.13.n7;1.14.14.55;1.14.14.56;1.14.14.73;1.14.14.-;1.14.14.51;1.14.14.52;1.14.14.53;1.14.14.75;1.14.14.78;1.14.14.79;1.14.14.94;1.14.14.80;1.14.14.177;1.14.14.130", "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:0004497 monooxygenase activity;GO:0019825 oxygen binding", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006631 fatty acid metabolic process;GO:0018879 biphenyl metabolic process", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "P13584-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P19113-1", "uniprot_id": "DCHS_HUMAN", "mass": 74141.0, "length": 662, "protein_name": "Histidine decarboxylase", "gene_name": "HDC", "organism": "Human", "refseq_name": "histidine decarboxylase isoform 2", "refseq_ac": "NP_001293075", "gene_names_uniprotkb": "HDC", "gene_names_refseq": "HDC", "protein_names_uniprotkb": "Histidine decarboxylase; 4.1.1.22; HDC", "protein_names_refseq": "histidine decarboxylase isoform 2", "tax_id": 9606, "disease": "Gilles de la Tourette syndrome (Disease Ontology:DOID:11119); asthma (Disease Ontology:DOID:2841); rhinitis (Disease Ontology:DOID:4483)", "pathway": " (hsa:3067); (R-HSA-70921)", "pathway_count": 2, "publication_count": 26, "publication_id_list": "10773664;11237011;11566133;12072962;12815595;1425659;15221005;15806399;16959974;1768863;18154359;19304569;20097752;2216786;22767596;26001783;27769832;31748740;33340761;34140200;35051231;35251023;36804390;7901203;7943261;8288622", "class_list": "", "function": "Catalyzes the biosynthesis of histamine from histidine., [UniProtKB, PubMed]; Correlation between histidine decarboxylase expression of keratinocytes and visual analogue scale in patients with atopic dermatitis., [RefSeq, PubMed]; Expression of histidine decarboxylase in melanocytes of the human skin., [RefSeq, PubMed]; Human histidine decarboxylase (HDC) and dopa decarboxilase (DDC) are highly homologous enzymes responsible for the synthesis of biogenic amines (BA) like histamine, and serotonin and dopamine, respectively. This review summarizes the analogies and differences in their origin as well as their common pathophysiological scenarios. [review] Review article, [RefSeq, PubMed]; Study of the antitumour effects and the modulation of immune response by histamine in breast cancer., [RefSeq, PubMed]; The Hdc GC box is critical for Hdc gene transcription and histamine-mediated anaphylaxis., [RefSeq, PubMed]; This gene encodes a member of the group II decarboxylase family and forms a homodimer that converts L-histidine to histamine in a pyridoxal phosphate dependent manner. Histamine regulates several physiologic processes, including neurotransmission, gastric acid secretion,inflamation, and smooth muscle tone.[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": 3, "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": "A1L4G0;B7ZM01", "ec_number_list": "4.1.1.22", "go_molecular_function": "GO:0030170 pyridoxal phosphate binding;GO:0004398 histidine decarboxylase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006548 L-histidine catabolic process;GO:0001694 histamine biosynthetic process;GO:0006547 L-histidine metabolic process;GO:0042423 catecholamine biosynthetic process;GO:0006520 amino acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "P19113-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96F07-1", "uniprot_id": "CYFP2_HUMAN", "mass": 148399.0, "length": 1278, "protein_name": "Cytoplasmic FMR1-interacting protein 2", "gene_name": "CYFIP2", "organism": "Human", "refseq_name": "cytoplasmic FMR1-interacting protein 2 isoform a", "refseq_ac": "NP_001032410", "gene_names_uniprotkb": "CYFIP2; KIAA1168; PIR121", "gene_names_refseq": "CYFIP2; DEE65; EIEE65; PIR121", "protein_names_uniprotkb": "Cytoplasmic FMR1-interacting protein 2; p53-inducible protein 121", "protein_names_refseq": "cytoplasmic FMR1-interacting protein 2 isoform a; p53-inducible protein 121", "tax_id": 9606, "disease": "chromosome 15q11.2 deletion syndrome (Disease Ontology:DOID:0060393); developmental and epileptic encephalopathy 65 (Disease Ontology:DOID:0080430)", "pathway": " (hsa:26999); (R-HSA-2029482); (R-HSA-4420097); (R-HSA-5663213); (R-HSA-9013149); (R-HSA-9664422)", "pathway_count": 6, "publication_count": 390, "publication_id_list": "10037737;10075701;10207622;10219243;10232922;10395673;10449408;10464238;10490598;10496324;10508610;10523665;10523675;10526156;10559246;10559936;10579713;10677529;10692392;10699171;10699464;10724160;10744763;10749680;10781580;10873802;10878810;10958683;10995437;11007481;11058585;11085924;11149925;11157975;11230166;11231582;11237011;11276226;11278486;11329366;11340081;11373293;11396949;11431473;11432776;11553796;11584276;11672528;11695992;11696015;11704860;11707441;11747816;11756552;11773441;11803464;11804587;11804589;11804590;11829459;11854399;11884391;11912491;11961559;12055636;12071859;12093360;12096337;12105426;12134158;12189515;12195014;12213210;12214271;12215529;12221096;12235133;12351724;12391143;12432077;12464388;12531887;12546821;12547822;12650940;12660731;12665586;12743368;12810700;12820653;12857875;12877655;12923183;1314888;14512443;14514689;1464587;14675773;14676198;14718541;14724572;15023524;15026417;15033976;15040784;15048733;15064355;15107133;15133129;15147912;15247219;15302923;15308668;15339924;15342493;15452139;15485661;15507211;15579468;15601624;15611138;15657136;15688067;15695828;15728722;15731336;15850391;15858067;15897194;15962004;16002401;16112081;16116428;16184169;16243036;16262445;16336962;16473593;16492808;16507994;16519628;16546099;16636067;16641196;16702231;16760434;16762923;16777452;16777849;16862148;16880808;16896804;16914516;16966330;16968698;17030947;17077126;17145773;17188549;17196961;17199126;17202194;17214551;17237347;17244649;17245118;17293873;17308335;17583407;17599059;17686471;17702745;17765681;17804252;17976533;18006505;18045877;18070890;18218625;18249095;18347018;18391171;18396277;18426980;18653540;18838382;19230644;19267251;19269969;19494238;19605563;19608861;19673492;19713215;19741094;19934221;19955216;20400958;20460433;20658524;20679435;20810653;21037092;21148482;21419341;21445309;21542010;21565175;21613211;21730051;21865595;21989057;21993680;22004470;22096251;22298643;22327215;22407364;22475431;22608513;22689825;22734669;22970203;23209303;23216836;23255595;23288169;23301498;23434736;23481700;23572525;23675550;23707487;23718289;23940355;24086303;24259668;24335996;24352656;24658146;24714562;24715725;2474607;24859002;24933155;24960694;25024229;25211221;25418920;25428919;25645385;25704760;25721503;25795300;25862245;25880248;25892735;26129894;26154972;26375851;26529257;26811146;26887924;26929215;26992070;27117132;27145964;27216196;27397612;27481945;27555588;27566826;27600516;27713499;27806292;27846572;27920218;28063628;28114311;28196833;28218747;28228285;28467828;28657654;28832583;28834231;28904123;29089502;29242379;29358323;29382922;29437277;29493099;29534297;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30429286;30524438;30779550;30853411;31844290;31871319;32157095;32203420;32350084;32357974;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33717175;33912179;33968037;34171305;34185709;34357683;34561969;34725712;34932366;35051231;35318648;35561310;35580925;35955843;36241641;36284347;36581221;37735711;38128786;40914422;7479768;7509446;7512369;7559638;7673236;7721814;7753201;7835339;7848918;8021274;8107774;8537347;8543060;8617235;8643598;8645157;8662891;8756646;8769096;8798539;8805223;8809042;8810315;8816443;8939998;8986718;8990121;8994827;9013646;9099726;9113980;9182576;9305890;9393975;9398617;9438849;9472046;9490638;9497316;9582072;9600938;9659915;9670022;9705280;9792683;9799231;9822598;9843499;9883880;9885284;9988689", "class_list": "", "function": "CYFIP2 serves as a prognostic biomarker and correlates with tumor immune microenvironment in human cancers. Publication Status: Online-Only, [RefSeq, PubMed]; Different dysregulations of CYFIP1 and CYFIP2 in distinct types of dementia., [RefSeq, PubMed]; Involved in T-cell adhesion and p53/TP53-dependent induction of apoptosis. Does not bind RNA. As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; Molecular Dynamics of CYFIP2 Protein and Its R87C Variant Related to Early Infantile Epileptic Encephalopathy. 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": 22, "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": "A6NLT2;D3DQJ3;Q53EN5;Q9NTK4;Q9ULQ2;Q9UN29", "ec_number_list": "", "go_molecular_function": "GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0045202 synapse", "go_biological_process": "GO:0006915 apoptotic process;GO:0000902 cell morphogenesis;GO:0098609 cell-cell adhesion;GO:0051388 positive regulation of neurotrophin TRK receptor signaling pathway;GO:0045862 positive regulation of proteolysis", "synthesized_glycan_count": 0, "hit_score": 39.4, "record_id": "Q96F07-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13627-1", "uniprot_id": "DYR1A_HUMAN", "mass": 85584.0, "length": 763, "protein_name": "Dual specificity tyrosine-phosphorylation-regulated kinase 1A", "gene_name": "DYRK1A", "organism": "Human", "refseq_name": "dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 2", "refseq_ac": "NP_001334650", "gene_names_uniprotkb": "DYRK1A; DYRK; MNBH; MNB", "gene_names_refseq": "DYRK1A; DYRK1; DYRK; HP86; MNBH; MNB; MRD7", "protein_names_uniprotkb": "Dual specificity tyrosine-phosphorylation-regulated kinase 1A; 2.7.11.23; 2.7.12.1; Dual specificity YAK1-related kinase; HP86; MNBH; Protein kinase minibrain homolog; hMNB", "protein_names_refseq": "MNB/DYRK protein kinase; dual specificity YAK1-related kinase; dual specificity tyrosine-(Y)-phosphorylation regulated kinase 1A; dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 2; mnb protein kinase homolog hp86; protein kinase minibrain homolog; serine/threonine kinase MNB; serine/threonine-specific protein kinase", "tax_id": 9606, "disease": "syndromic intellectual disability (Disease Ontology:DOID:0050888); autism spectrum disorder (Disease Ontology:DOID:0060041); autosomal dominant intellectual developmental disorder 7 (Disease Ontology:DOID:0070037); intellectual disability (Disease Ontology:DOID:1059); dilated cardiomyopathy (Disease Ontology:DOID:12930); Down syndrome (Disease Ontology:DOID:14250); renovascular hypertension (Disease Ontology:DOID:1591); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); hyperhomocysteinemia (Disease Ontology:DOID:9279)", "pathway": " (hsa:1859); (R-HSA-1538133)", "pathway_count": 2, "publication_count": 132, "publication_id_list": "10.1101/2023.09.13.557529;10329007;10910078;11237011;11672423;14500717;14593110;15592455;16497976;17016520;17229891;17344846;17389395;17536841;18088087;18691976;19266028;19413330;19415658;19651622;19664994;19690332;20068231;20167603;20981014;21127067;21294719;21498570;21878370;22998443;23160955;23186163;23301498;23415227;23481700;23665168;23809146;23864635;24029068;24239188;24275569;24676346;24715725;25576301;25620562;25645385;25892735;26154972;26234946;26375851;26992070;27600516;27796319;27846572;27862975;27869121;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29485866;29493099;29557506;29632711;29700199;29764512;29786170;29849146;30315122;30379171;30410026;30429286;30484775;30773093;30779550;31024071;31154438;31844290;31848261;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32938750;32983136;33141586;33214551;33298915;33380426;33392160;33393492;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34185709;34357683;34509645;34561969;34932366;35051231;35318648;35494241;35561310;35580925;36010968;36241641;36284347;37938771;38253038;38665916;39028815;39405283;39436397;8769099;8872470;8975710;9037601;9199292;9503011;9724731", "class_list": "", "function": "DYRK1A interacts with the tuberous sclerosis complex and promotes mTORC1 activity. Publication Status: Online-Only, [RefSeq, PubMed]; Dual-specificity kinase which possesses both serine/threonine and tyrosine kinase activities (PubMed:20981014, PubMed:21127067, PubMed:23665168, PubMed:30773093, PubMed:8769099). Exhibits a substrate preference for proline at position P+1 and arginine at position P-3 (PubMed:23665168). Plays an important role in double-strand breaks (DSBs) repair following DNA damage (PubMed:31024071). Mechanistically, phosphorylates RNF169 and increases its ability to block accumulation of TP53BP1 at the DSB sites thereby promoting homologous recombination repair (HRR) (PubMed:30773093). Also acts as a positive regulator of transcription by acting as a CTD kinase that mediates phosphorylation of the CTD (C-terminal domain) of the large subunit of RNA polymerase II (RNAP II) POLR2A (PubMed:25620562, PubMed:29849146). May play a role in a signaling pathway regulating nuclear functions of cell proliferation (PubMed:14500717). Modulates alternative splicing by phosphorylating the splice factor SRSF6 (By similarity). Has pro-survival function and negatively regulates the apoptotic process (By similarity). Promotes cell survival upon genotoxic stress through phosphorylation of SIRT1 (By similarity). This in turn inhibits p53/TP53 activity and apoptosis (By similarity). Phosphorylates SEPTIN4, SEPTIN5 and SF3B1 at 'Thr-434' (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The dual-specificity kinase DYRK1A interacts with the Hepatitis B virus genome and regulates the production of viral RNA. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the Dual-specificity tyrosine phosphorylation-regulated kinase (DYRK) family. This member contains a nuclear targeting signal sequence, a protein kinase domain, a leucine zipper motif, and a highly conservative 13-consecutive-histidine repeat. It catalyzes its autophosphorylation on serine/threonine and tyrosine residues. It may play a significant role in a signaling pathway regulating cell proliferation and may be involved in brain development. This gene is a homolog of Drosophila mnb (minibrain) gene and rat Dyrk gene. It is localized in the Down syndrome critical region of chromosome 21, and is considered to be a strong candidate gene for learning defects associated with Down syndrome. Alternative splicing of this gene generates several transcript variants differing from each other either in the 5' UTR or in the 3' coding region. These variants encode at least five 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": 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": 34, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 36, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 10, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "O60769;Q92582;Q92810;Q9UNM5", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.10.1;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.32;2.7.1.82;2.7.10.4;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0003779 actin binding;GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0004713 protein tyrosine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005856 cytoskeleton;GO:0016607 nuclear speck", "go_biological_process": "GO:0033120 positive regulation of RNA splicing;GO:0006351 DNA-templated transcription;GO:0006468 protein phosphorylation;GO:0007399 nervous system development;GO:0018108 peptidyl-tyrosine phosphorylation", "synthesized_glycan_count": 0, "hit_score": 14.0, "record_id": "Q13627-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P16118-1", "uniprot_id": "F261_HUMAN", "mass": 54681.0, "length": 471, "protein_name": "6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1", "gene_name": "PFKFB1", "organism": "Human", "refseq_name": "6-phosphofructo-2-kinase/fructose-2, 6-bisphosphatase 1 isoform 2", "refseq_ac": "NP_001258733", "gene_names_uniprotkb": "PFKFB1; F6PK; PFRX", "gene_names_refseq": "F6PK; HL2K; PFKFB1; PFRX", "protein_names_uniprotkb": "6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1; 6PF-2-K/Fru-2,6-P2ase 1; 6PF-2-K/Fru-2,6-P2ase liver isozyme; PFK/FBPase 1", "protein_names_refseq": "6-phosphofructo-2-kinase/fructose-2, 6-bisphosphatase 1 isoform 2; 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1; 6PF-2-K/Fru-2,6-P2ASE liver isozyme; 6PF-2-K/Fru-2,6-P2ase 1; PFK/FBPase 1; fructose-6-phosphate,2-kinase:fructose-2, 6-bisphosphatase", "tax_id": 9606, "disease": "hyperinsulinism (Disease Ontology:DOID:2018)", "pathway": " (hsa:5207); (R-HSA-163358); (R-HSA-163767); (R-HSA-9634600)", "pathway_count": 4, "publication_count": 28, "publication_id_list": "10095107;12379646;12721358;15896703;18606808;19474452;19651622;20166139;2163524;26154972;26827442;2837207;28411811;29485866;29557506;3052289;31844290;32488085;32938616;32983136;33592498;35051231;35254053;36215666;36284347;6330071;7574501;9464277", "class_list": "glycogene", "function": "Insulin resistance in obese boys leads to up-regulation of INSIG2 gene expression as well as to down-regulation of PFKFB1, PFKFB3, and HK2 genes in the blood cells as compared to obese patients with normal insulin sensitivity., [RefSeq, PubMed]; Observational study of genetic testing. (HuGE Navigator), [RefSeq, PubMed]; Synthesis and degradation of fructose 2,6-bisphosphate., [UniProtKB, PubMed]; This gene encodes a member of the family of bifunctional 6-phosphofructo-2-kinase:fructose-2,6-biphosphatase enzymes. The enzyme forms a homodimer that catalyzes both the synthesis and degradation of fructose-2,6-biphosphate using independent catalytic domains. Fructose-2,6-biphosphate is an activator of the glycolysis pathway and an inhibitor of the gluconeogenesis pathway. Consequently, regulating fructose-2,6-biphosphate levels through the activity of this enzyme is thought to regulate glucose homeostasis. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 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": 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": 0, "reported_glycation": 0, "reported_snv": 492, "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": "B2RA88;B4DUN5;Q5JXS5;Q99951", "ec_number_list": "2.7.1.105;3.1.3.46", "go_molecular_function": "GO:0004331 fructose-2,6-bisphosphate 2-phosphatase activity;GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0003873 6-phosphofructo-2-kinase activity", "go_cellular_component": "GO:0043540 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex;GO:0005829 cytosol", "go_biological_process": "GO:1904539 negative regulation of glycolytic process through fructose-6-phosphate;GO:0006094 gluconeogenesis;GO:0006000 fructose metabolic process;GO:0006096 glycolytic process;GO:0006003 fructose 2,6-bisphosphate metabolic process", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "P16118-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O00629-1", "uniprot_id": "IMA3_HUMAN", "mass": 57887.0, "length": 521, "protein_name": "Importin subunit alpha-3", "gene_name": "KPNA4", "organism": "Human", "refseq_name": "importin subunit alpha-3", "refseq_ac": "NP_002259", "gene_names_uniprotkb": "KPNA4; QIP1", "gene_names_refseq": "IPOA3; KPNA4; QIP1; SRP3", "protein_names_uniprotkb": "Importin subunit alpha-3; Importin alpha Q1; Karyopherin subunit alpha-4; Qip1", "protein_names_refseq": "importin alpha Q1; importin subunit alpha-3; importin subunit alpha-4; karyopherin alpha 4 (importin alpha 3)", "tax_id": 9606, "disease": "", "pathway": " (hsa:3840); (R-HSA-1169408); (R-HSA-168276); (R-HSA-9918432)", "pathway_count": 4, "publication_count": 140, "publication_id_list": "10205180;10228156;10567565;10846107;11095724;11112487;11157743;11237011;11788588;12525615;12582176;12610148;14654843;15131269;15485925;15702989;16009940;16112642;16122702;16139798;16352599;16407192;16428300;16699525;16715065;16775314;16815975;16872604;16914094;17081983;17289916;17376915;18287095;18305167;18583345;18669648;19073728;19125153;19270716;19435523;19690332;20068231;20112406;20133869;20219937;20308324;20385878;20818336;21454664;22121020;22424782;22544926;23186163;23301498;23864635;23984714;24275569;24366607;24715725;25418920;25576301;25645385;26154972;26208004;26811146;26992070;27383988;27846572;28063628;28218747;28228285;28228593;28510447;28760339;28832583;28860189;28904123;29042532;29242379;29370303;29393594;29493099;29557506;29632046;30315122;30355688;30429286;30833945;31092671;31154438;31217245;31822798;31844290;31848261;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33592498;33691108;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34509645;34932366;35051231;35215835;35580925;36010968;36241641;36284347;36573325;37938771;38512451;38665916;38793607;40914422;7559393;8313914;9168958;9395085;9525617;9651582", "class_list": "", "function": "(Microbial infection) In vitro, mediates the nuclear import of human cytomegalovirus UL84 by recognizing a non-classical NLS. In vitro, mediates the nuclear import of human cytomegalovirus UL84 by recognizing a non-classical NLS., [UniProtKB, PubMed]; Circular RNA hsa_circ_0008003 promotes the progression of non-small-cell lung cancer by sponging miR-548I and regulating KPNA4 expression., [RefSeq, PubMed]; Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1 (PubMed:10567565, PubMed:20818336, PubMed:28760339, PubMed:29042532, PubMed:38512451). Binds specifically and directly to substrates containing either a simple or bipartite NLS motif (PubMed:20818336, PubMed:28760339, PubMed:29042532, PubMed:38512451). Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism (PubMed:20818336, PubMed:28760339, PubMed:29042532, PubMed:38512451). At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin (PubMed:20818336, PubMed:28760339, PubMed:29042532, PubMed:38512451). 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 (PubMed:20818336, PubMed:28760339, PubMed:29042532, PubMed:38512451). Mediates nuclear import of AARS1, MRTFA and RANBP3 (PubMed:10567565, PubMed:20818336, PubMed:28760339, PubMed:38512451)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Functions in nuclear protein import., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The nuclear import of karyophilic proteins is directed by short amino acid sequences termed nuclear localization signals (NLSs). Karyopherins, or importins, are cytoplasmic proteins that recognize NLSs and dock NLS-containing proteins to the nuclear pore complex. The protein encoded by this gene shares the sequence similarity with Xenopus importin-alpha and Saccharomyces cerevisiae Srp1. This protein is found to interact with the NLSs of DNA helicase Q1 and SV40 T antigen. [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": 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": "A8K4S6;D3DNM2;O00190", "ec_number_list": "", "go_molecular_function": "GO:0008139 nuclear localization sequence binding;GO:0061608 nuclear import signal receptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005643 nuclear pore;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006607 NLS-bearing protein import into nucleus;GO:0006606 protein import into nucleus", "synthesized_glycan_count": 0, "hit_score": 14.3, "record_id": "O00629-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9ULD6-1", "uniprot_id": "INTU_HUMAN", "mass": 105648.0, "length": 942, "protein_name": "Protein inturned", "gene_name": "INTU", "organism": "Human", "refseq_name": "protein inturned", "refseq_ac": "NP_056508", "gene_names_uniprotkb": "INTU; KIAA1284; PDZD6; PDZK6", "gene_names_refseq": "CPLANE4; INTU; INT; OFD17; PDZD6; PDZK6; SRTD20", "protein_names_uniprotkb": "Protein inturned; Inturned planar cell polarity effector homolog; PDZ domain-containing protein 6", "protein_names_refseq": "PDZ domain containing 6; PDZ domain-containing protein 6; ciliogenesis and planar polarity effector 4; ciliogenesis and planar polarity effector complex subunit 4; inturned planar cell polarity effector homolog; protein inturned", "tax_id": 9606, "disease": "asphyxiating thoracic dystrophy (Disease Ontology:DOID:0050592); orofaciodigital syndrome XVII (Disease Ontology:DOID:0080289); short-rib thoracic dysplasia 7 with or without polydactyly (Disease Ontology:DOID:0110090); short-rib thoracic dysplasia 20 with polydactyly (MONDO:MONDO:0044328)", "pathway": " (hsa:27152); (R-HSA-5610787)", "pathway_count": 2, "publication_count": 91, "publication_id_list": "10966113;11237011;11375483;12192414;12435627;14603322;15087129;15930098;16061793;16136078;16229832;16254602;16311594;16339192;16396903;16493421;16707575;17027958;17200122;17442700;17553904;17641202;17762891;17960137;18327258;18455992;18832070;19000668;19196978;19223390;19286674;19365551;19549984;19592253;19664994;19666503;19767740;19776033;19877275;19906846;19948480;19996169;20067783;20154143;20207148;20395968;20412786;20460306;20844016;20889716;20956384;2105456;21209331;21695114;21801010;22007132;22231273;22391300;23186163;23209152;23332756;23719536;24302888;24339784;24845016;24863049;24917297;24925320;24952464;25576301;26644512;27158779;29557506;30379171;30833945;31154438;32157095;32161166;33436679;33968037;33981976;34171305;34509645;35051231;35427153;36010968;36084949;36241641;36284347;36586478;39894887", "class_list": "", "function": "Deficiency of the Planar Cell Polarity Protein Intu Delays Kidney Repair and Suppresses Renal Fibrosis after Acute Kidney Injury., [RefSeq, PubMed]; Integration of genome-wide association study and expression quantitative trait locus mapping for identification of endometriosis-associated genes. Publication Status: Online-Only, [RefSeq, PubMed]; Multifaceted investigation underlies diverse mechanisms contributing to the downregulation of Hedgehog pathway-associated genes INTU and IFT88 in lung adenocarcinoma and uterine corpus endometrial carcinoma., [RefSeq, PubMed]; Plays a key role in ciliogenesis and embryonic development. Regulator of cilia formation by controlling the organization of the apical actin cytoskeleton and the positioning of the basal bodies at the apical cell surface, which in turn is essential for the normal orientation of elongating ciliary microtubules. Plays a key role in definition of cell polarity via its role in ciliogenesis but not via conversion extension. Has an indirect effect on hedgehog signaling (By similarity). 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 (PubMed:27158779). Required for recruitment of CPLANE2 to the mother centriole (By similarity). Binds phosphatidylinositol 3-phosphate with highest affinity, followed by phosphatidylinositol 4-phosphate and phosphatidylinositol 5-phosphate (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": 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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "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": "A1L4N5;D6RAE6;D6RBT4;Q4W5I8;Q86V55", "ec_number_list": "", "go_molecular_function": "GO:0035091 phosphatidylinositol binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005929 cilium;GO:0009986 cell surface;GO:0031514 motile cilium;GO:0005814 centriole", "go_biological_process": "GO:0007399 nervous system development;GO:0021915 neural tube development;GO:0060271 cilium assembly;GO:0016192 vesicle-mediated transport;GO:0060021 roof of mouth development", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "Q9ULD6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O15226-1", "uniprot_id": "NKRF_HUMAN", "mass": 77673.0, "length": 690, "protein_name": "NF-kappa-B-repressing factor", "gene_name": "NKRF", "organism": "Human", "refseq_name": "NF-kappa-B-repressing factor isoform X2", "refseq_ac": "XP_054183376", "gene_names_uniprotkb": "NKRF; ITBA4; NRF", "gene_names_refseq": "ITBA4; NKRF; NRF", "protein_names_uniprotkb": "NF-kappa-B-repressing factor; NFkB-repressing factor; NRF; Protein ITBA4", "protein_names_refseq": "NF-kappa-B-repressing factor isoform X2", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 76, "publication_id_list": "10562553;11237011;12381793;12429849;17081983;20068231;22645359;23186163;23301498;24462208;24714562;24715725;25218447;25576301;25880248;25892735;26154972;26768311;26992070;27543614;27600516;27846572;27920218;28218747;28228285;28832583;28904123;29242379;29331515;29393594;29437277;29508533;29557506;30315122;30379171;30410026;30429286;30484775;30779550;30833945;31222486;31717259;31844290;31848261;32119511;32157095;32161166;32179686;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33214551;33298915;33392160;33592498;33691108;33936100;33968037;33981976;34019948;34171305;34229054;34509645;34561969;34932366;35051231;35561310;35580925;36215666;36241641;38665916;9224902", "class_list": "", "function": "Enhances the ATPase activity of DHX15 by acting like a brace that tethers mobile sections of DHX15 together, stabilizing a functional conformation with high RNA affinity of DHX15 (PubMed:12381793). Involved in the constitutive silencing of the interferon beta promoter, independently of the virus-induced signals, and in the inhibition of the basal and cytokine-induced iNOS promoter activity (PubMed:12381793). Also involved in the regulation of IL-8 transcription (PubMed:12381793). May also act as a DNA-binding transcription regulator: interacts with a specific negative regulatory element (NRE) 5'-AATTCCTCTGA-3' to mediate transcriptional repression of certain NK-kappa-B responsive genes (PubMed:10562553)., [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": 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": 6, "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": "G3V1N1;Q4VC41;Q9UJ91", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0001671 ATPase activator activity;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "O15226-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BZB8-1", "uniprot_id": "CPEB1_HUMAN", "mass": 62595.0, "length": 566, "protein_name": "Cytoplasmic polyadenylation element-binding protein 1", "gene_name": "CPEB1", "organism": "Human", "refseq_name": "cytoplasmic polyadenylation element-binding protein 1 isoform 2", "refseq_ac": "NP_001073001", "gene_names_uniprotkb": "CPEB1; CPEB", "gene_names_refseq": "CPE-BP1; CPEB-1; CPEB1; CPEB; h-CPEB; hCPEB-1", "protein_names_uniprotkb": "Cytoplasmic polyadenylation element-binding protein 1; CPE-BP1; CPE-binding protein 1; h-CPEB; hCPEB-1", "protein_names_refseq": "CPE-binding protein 1; cytoplasmic polyadenylation element-binding protein 1 isoform 2", "tax_id": 9606, "disease": "portal hypertension (Disease Ontology:DOID:10762); primary biliary cholangitis (Disease Ontology:DOID:12236); glioblastoma (Disease Ontology:DOID:3068); liver cirrhosis (Disease Ontology:DOID:5082)", "pathway": " (hsa:64506)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "11223249;11237011;15731006;15966895;18923137;19690332;23500490;24983972;24990967;25418920;26063658;26398195;26456073;27600516;28383716;29557506;30410026;31844290;32157095;32354341;33162033;33298915;33892791;34586830;36010968;38253038;38904009", "class_list": "", "function": "CPEB alteration and aberrant transcriptome-polyadenylation lead to a treatable SLC19A3 deficiency in Huntington's disease., [RefSeq, PubMed]; CPEB1 Controls NRF2 Proteostasis and Ferroptosis Susceptibility in Pancreatic Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; CPEB1 deletion is not a common explanation for premature ovarian insufficiency in a Chinese cohort. Publication Status: Online-Only, [RefSeq, PubMed]; CPEB1 has a role in compartmentalization of mRNA metabolism in the cytoplasm, between dcp1 bodies and stress granules, [RefSeq, PubMed]; DNA hypermethylation contributes to colorectal cancer metastasis by regulating the binding of CEBPB and TFCP2 to the CPEB1 promoter. Publication Status: Online-Only, [RefSeq, PubMed]; Estrogen promotes increased breast cancer cell proliferation and migration through downregulation of CPEB1 expression., [RefSeq, PubMed]; Sequence-specific RNA-binding protein that regulates mRNA cytoplasmic polyadenylation and translation initiation during oocyte maturation, early development and at postsynapse sites of neurons. Binds to the cytoplasmic polyadenylation element (CPE), an uridine-rich sequence element (consensus sequence 5'-UUUUUAU-3') within the mRNA 3'-UTR. RNA binding results in a clear conformational change analogous to the Venus fly trap mechanism (PubMed:24990967). In absence of phosphorylation and in association with TACC3 is also involved as a repressor of translation of CPE-containing mRNA; a repression that is relieved by phosphorylation or degradation (By similarity). Involved in the transport of CPE-containing mRNA to dendrites; those mRNAs may be transported to dendrites in a translationally dormant form and translationally activated at synapses (By similarity). Its interaction with APLP1 promotes local CPE-containing mRNA polyadenylation and translation activation (By similarity). Induces the assembly of stress granules in the absence of stress. Required for cell cycle progression, specifically for prophase entry (PubMed:26398195)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the cytoplasmic polyadenylation element binding protein family. This highly conserved protein binds to a specific RNA sequence, called the cytoplasmic polyadenylation element, found in the 3' untranslated region of some mRNAs. The encoded protein functions in both the cytoplasm and the nucleus. It is involved in the regulation of mRNA translation, as well as processing of the 3' untranslated region, and may play a role in cell proliferation and tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 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": 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": 1, "reported_phosphosites": 3, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 5, "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": "B7Z6C6;Q86W46;Q8IV41;Q9BZB7;Q9H8V5", "ec_number_list": "", "go_molecular_function": "GO:0000900 mRNA regulatory element binding translation repressor activity;GO:0046872 metal ion binding;GO:0008135 translation factor activity, RNA binding;GO:0043022 ribosome binding;GO:0003730 mRNA 3'-UTR binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0014069 postsynaptic density", "go_biological_process": "GO:0006397 mRNA processing;GO:0032869 cellular response to insulin stimulus;GO:0071456 cellular response to hypoxia;GO:0071230 cellular response to amino acid stimulus;GO:2000766 negative regulation of cytoplasmic translation", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q9BZB8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P14406-1", "uniprot_id": "CX7A2_HUMAN", "mass": 9396.0, "length": 83, "protein_name": "Cytochrome c oxidase subunit 7A2, mitochondrial", "gene_name": "COX7A2", "organism": "Human", "refseq_name": "cytochrome c oxidase subunit 7A2, mitochondrial", "refseq_ac": "NP_001353221", "gene_names_uniprotkb": "COX7A2; COX7AL", "gene_names_refseq": "COX7A2; COX7AL1; COX7AL; COXVIIAL; COXVIIa-L; VIIAL", "protein_names_uniprotkb": "Cytochrome c oxidase subunit 7A2, mitochondrial; Cytochrome c oxidase subunit VIIa-L; Cytochrome c oxidase subunit VIIa-liver/heart; Cytochrome c oxidase subunit VIIaL", "protein_names_refseq": "cytochrome c oxidase polypeptide 7A2, mitochondrial; cytochrome c oxidase polypeptide VIIa-liver/heart; cytochrome c oxidase subunit 7A2, mitochondrial; cytochrome c oxidase subunit VIIa polypeptide 2 (liver); cytochrome c oxidase subunit VIIa-L; cytochrome c oxidase subunit VIIa-liver/heart; cytochrome c oxidase subunit VIIaL; hepatic cytochrome-c oxidase chain VIIa", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); nicotine dependence (Disease Ontology:DOID:0050742); morbid obesity (Disease Ontology:DOID:11981); epilepsy (Disease Ontology:DOID:1826); acute pancreatitis (Disease Ontology:DOID:2913); cytochrome-c oxidase deficiency disease (Disease Ontology:DOID:3762); alcoholic pancreatitis (Disease Ontology:DOID:4988); cataract (Disease Ontology:DOID:83)", "pathway": " (hsa:1347); (R-HSA-5628897); (R-HSA-611105); (R-HSA-9707564); (R-HSA-9864848)", "pathway_count": 5, "publication_count": 164, "publication_id_list": "10327278;10329961;10716435;10745013;10980602;11004498;11029283;11034341;11237011;11340051;11486029;11545734;11695836;11959846;12161445;12203114;12231006;12438239;12453409;12714747;12837546;12869586;12906785;12969439;1309697;1327877;13298683;13538944;14651849;14741580;15105503;15223;15250827;15589136;16140933;16230336;16413492;16568091;16636147;16728594;16760263;16839880;17033964;17264172;17298220;17486094;17540029;17697703;18198340;18344994;186667;18692468;19113821;19439913;19487573;19503089;19690164;19822145;19968714;20080666;20182617;20351271;20378837;20929863;21750704;21958598;22342701;22356826;22363791;22365974;22427940;22645359;23125284;23150584;23260140;23270816;23345593;23564345;23746447;23747254;23775793;239860;24066844;24366874;24383451;24403053;24718924;25502872;25505266;2550906;25564869;25579166;25926683;25959673;26154972;26321642;26652033;26992070;27397612;27693358;27846572;28082314;28199844;28228285;28330871;28510447;28698372;28844695;28904123;29079956;29154948;29493099;29557506;30030519;30315122;30410026;30429286;31154438;31217245;31536960;31611695;31844290;31848261;31998317;32157095;32161166;32317297;32357974;32375044;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33392160;33592498;33912179;33936100;33968037;34185709;3427020;34357683;34509645;34561969;3475708;34932366;34969438;35561310;35750769;36215666;36241641;36284347;37938771;4288886;5666113;6094553;7979252;7989588;8119488;9843204;9878551;9926927", "class_list": "", "function": "COX7A2, TAGLN2 and S100-A10 as novel prognostic markers in Barrett's adenocarcinoma., [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]; Cytochrome c oxidase, 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 three catalytic subunits encoded by mitochondrial genes, and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, while the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (liver isoform) of subunit VIIa, with this polypeptide being present in both muscle and non-muscle tissues. In addition to polypeptide 2, subunit VIIa includes polypeptide 1 (muscle isoform), which is present only in muscle tissues, and a related protein, which is present in all tissues. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4 and 14. [provided by RefSeq, Oct 2009]., [RefSeq]; Overexpression of COX7A2 is associated with a good prognosis in patients with glioma. Results suggest that COX7A2 could be served as a valuable prognostic marker of glioma., [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": 8, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R5E1;Q3MIH5;Q5TF59;Q6FGI2", "ec_number_list": "", "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0031966 mitochondrial membrane;GO:0045277 respiratory chain complex IV;GO:0098803 respiratory chain complex", "go_biological_process": "GO:0006123 mitochondrial electron transport, cytochrome c to oxygen;GO:0006119 oxidative phosphorylation;GO:0045333 cellular respiration", "synthesized_glycan_count": 0, "hit_score": 16.7, "record_id": "P14406-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6VVX0-1", "uniprot_id": "CP2R1_HUMAN", "mass": 57359.0, "length": 501, "protein_name": "Vitamin D 25-hydroxylase", "gene_name": "CYP2R1", "organism": "Human", "refseq_name": "vitamin D 25-hydroxylase isoform 1", "refseq_ac": "NP_078790", "gene_names_uniprotkb": "CYP2R1", "gene_names_refseq": "CYP2R1", "protein_names_uniprotkb": "Vitamin D 25-hydroxylase; 1.14.14.24; Cytochrome P450 2R1", "protein_names_refseq": "cytochrome P450 2R1; cytochrome P450, family 2, R1; cytochrome P450, family 2, subfamily R, polypeptide 1; vitamin D 25-hydroxylase isoform 1; vitamin D 25-hydroxylase", "tax_id": 9606, "disease": "vitamin D-dependent rickets type 1B (Disease Ontology:DOID:0080887); pre-eclampsia (Disease Ontology:DOID:10591); hypertension (Disease Ontology:DOID:10763); gestational diabetes (Disease Ontology:DOID:11714); asthma (Disease Ontology:DOID:2841); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); coronary artery disease (Disease Ontology:DOID:3393); brain infarction (Disease Ontology:DOID:3454); coronary stenosis (Disease Ontology:DOID:4248); myocardial infarction (Disease Ontology:DOID:5844); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:120227); (R-HSA-196791); (R-HSA-211916); (R-HSA-5579027)", "pathway_count": 4, "publication_count": 62, "publication_id_list": "10052453;10518789;10823918;11012668;11085925;11234559;11237011;11717447;11799400;11856765;12227689;12855575;12867411;14532297;15128933;15465040;15647825;15728261;17646648;18511070;19473635;21595846;21849106;22564762;22877430;22879719;22918710;23857223;24101867;24569127;24715725;25363733;25942481;26434738;26748501;26992070;27250744;27913313;28005175;28206978;28467828;28832583;28841848;31844290;31848261;32157095;32983136;34171305;35051231;37675692;37898838;37929021;38632160;38665916;38732523;7768901;8201479;8506296;8679605;8706697;9716180;9821970", "class_list": "", "function": "A cytochrome P450 monooxygenase involved in activation of vitamin D precursors. Catalyzes hydroxylation at C-25 of both forms of vitamin D, vitamin D(2) and D(3) (calciol) (PubMed:12867411, PubMed:15465040, PubMed:18511070). Can metabolize vitamin D analogs/prodrugs 1alpha-hydroxyvitamin D(2) (doxercalciferol) and 1alpha-hydroxyvitamin D(3) (alfacalcidol) forming 25-hydroxy derivatives (PubMed:15465040, PubMed:18511070). 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:12867411, PubMed:15465040, PubMed:18511070)., [UniProtKB, PubMed, PubMed, PubMed]; Association of Single Nucleotide Polymorphism in VDR, GC Globulin and CYP2R1 with the Risk of Esophageal Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; CYP2R1 is a strong candidate for the microsomal vitamin D 25-hydroxylase., [RefSeq, PubMed]; Correlation of CYP2R1 gene promoter methylation with circulating vitamin D levels among healthy adults., [RefSeq, PubMed]; Gene expression profiling of vitamin D metabolism enzymes in leukemia and lymphoma patients: molecular aspect interplay of VDR, CYP2R1, and CYP24A1. Publication Status: Online-Only, [RefSeq, PubMed]; Relationship between Vitamin D3 Deficiency, Metabolic Syndrome and VDR, GC, and CYP2R1 Gene Polymorphisms. Publication Status: Online-Only, [RefSeq, PubMed]; Results suggest that CYP2R1 plays a physiologically important role in the vitamin D 25-hydroxylation in humans., [RefSeq, PubMed]; Single nucleotide polymorphisms in vitamin D binding protein and 25-hydroxylase genes affect vitamin D levels in adolescents of Arab ethnicity in Kuwait. 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 enzyme is a microsomal vitamin D hydroxylase that converts vitamin D into the active ligand for the vitamin D receptor. A mutation in this gene has been associated with selective 25-hydroxyvitamin D 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": 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": "Q2M3H3;Q5RT65", "ec_number_list": "1.14.14.24", "go_molecular_function": "GO:0005506 iron ion binding;GO:0042803 protein homodimerization 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:0030343 vitamin D3 25-hydroxylase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006766 vitamin metabolic process;GO:0042359 vitamin D metabolic process;GO:0006805 xenobiotic metabolic process;GO:0010212 response to ionizing radiation;GO:0006082 organic acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q6VVX0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5TCH4-1", "uniprot_id": "CP4AM_HUMAN", "mass": 59246.0, "length": 519, "protein_name": "Cytochrome P450 4A22", "gene_name": "CYP4A22", "organism": "Human", "refseq_name": "cytochrome P450 4A22 isoform 1", "refseq_ac": "NP_001010969", "gene_names_uniprotkb": "CYP4A22", "gene_names_refseq": "CYP4A22", "protein_names_uniprotkb": "Cytochrome P450 4A22; 1.14.14.80; CYPIVA22; Fatty acid omega-hydroxylase; Lauric acid omega-hydroxylase; Long-chain fatty acid omega-monooxygenase", "protein_names_refseq": "CYPIVA22; cytochrome P450 4A22 isoform 1; cytochrome P450 4A22K; cytochrome P450, family 4, subfamily A, polypeptide 22; fatty acid omega-hydroxylase; lauric acid omega-hydroxylase; long-chain fatty acid omega-monooxygenase", "tax_id": 9606, "disease": "autosomal recessive polycystic kidney disease (Disease Ontology:DOID:0110861); hypertension (Disease Ontology:DOID:10763)", "pathway": " (hsa:284541); (R-HSA-211935); (R-HSA-211958); (R-HSA-211979); (R-HSA-2142691)", "pathway_count": 5, "publication_count": 64, "publication_id_list": "10064732;10405341;10779545;10791960;10860550;11160876;11162607;11237011;11844797;12711469;1359745;14660610;15006160;15548719;15604543;15611369;16436457;16677611;16795963;16806293;18065749;18184802;1848634;18647347;19743890;20079672;20436887;21447318;21820496;23076889;27046942;2753893;2768222;2836406;2864155;2866075;2877850;2882965;29133059;2995393;3006030;3020588;30669;3118366;31199497;3164719;31844290;3563417;38438909;3933675;6122208;6293969;6490615;7937884;8052639;8394361;8576264;8631948;8913342;8914854;9461497;9539102;9600267;9799565", "class_list": "", "function": "A homology model has been constructed for CYP4A22 and refined by molecular dynamics simulation., [RefSeq, PubMed]; Catalyzes the omega- and (omega-1)-hydroxylation of various fatty acids such as laurate and palmitate. Shows no activity towards arachidonic acid and prostaglandin A1. Lacks functional activity in the kidney and does not contribute to renal 20-hydroxyeicosatetraenoic acid (20-HETE) biosynthesis., [UniProtKB, PubMed, PubMed]; Data suggest that results could be helpful for further investigations of the potential role of CYP4A variants in the genetic susceptibility to cardiovascular diseases such as arterial hypertension., [RefSeq, PubMed]; Novel polymorphisms in CYP4A22 associated with susceptibility to coronary heart disease. Publication Status: Online-Only, [RefSeq, PubMed]; Study demonstrate that the CYP4A22 gene codes for an active enzyme. It catalyzes the hydroxylation of both lauric and myristic acids. The structural model of CYP4A22 and substrate docking experiments suggest that its broadened spectrum of catalyzed reactions results from increased residual mobility of active site residue Phe320 and that arginines Arg96 and Arg233 are essential for substrate recognition., [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 gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. Alternative splicing results in multiple transcript variants encoding different isoforms. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5TCH3;Q6JXK7;Q6JXK8;Q9NRM4", "ec_number_list": "1.14.14.1;1.14.14.78;1.14.14.79;1.14.14.94;1.14.14.80;1.14.14.177;1.14.14.-", "go_molecular_function": "GO:0005506 iron ion binding;GO:0020037 heme binding;GO:0103002 16-hydroxypalmitate dehydrogenase activity;GO:0018685 alkane 1-monooxygenase activity;GO:0008391 arachidonate monooxygenase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0002933 lipid hydroxylation;GO:0046456 icosanoid biosynthetic process;GO:0001822 kidney development;GO:0043651 linoleic acid metabolic process;GO:0019369 arachidonate metabolic process", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q5TCH4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96PD2-1", "uniprot_id": "DCBD2_HUMAN", "mass": 85035.0, "length": 775, "protein_name": "Discoidin, CUB and LCCL domain-containing protein 2", "gene_name": "DCBLD2", "organism": "Human", "refseq_name": "discoidin, CUB and LCCL domain-containing protein 2 precursor", "refseq_ac": "NP_563615", "gene_names_uniprotkb": "DCBLD2; CLCP1; ESDN", "gene_names_refseq": "CLCP1; DCBLD2; ESDN", "protein_names_uniprotkb": "Discoidin, CUB and LCCL domain-containing protein 2; CUB, LCCL and coagulation factor V/VIII-homology domains protein 1; Endothelial and smooth muscle cell-derived neuropilin-like protein", "protein_names_refseq": "1700055P21Rik; CUB, LCCL and coagulation factor V/VIII-homology domains protein 1; coagulation factor V/VIII-homology domains protein 1; discoidin, CUB and LCCL domain-containing protein 2 precursor; discoidin, CUB and LCCL domain-containing protein 2; endothelial and smooth muscle cell-derived neuropilin-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:131566)", "pathway_count": 1, "publication_count": 67, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;11237011;11447234;11973641;15951569;17389395;17570516;18578522;18669648;18707149;19415658;23090970;23584533;24190977;25061874;25502872;25576301;25645385;25892735;26375851;26992070;27397612;27600516;27846572;28228285;28832583;28834231;29025973;29242379;29314611;29557506;29789417;30429286;31844290;32157095;32350084;32387766;32488085;32897882;32938616;33298915;33592498;33862151;33936100;33968037;33981976;34078123;34145321;34171305;34357683;34509645;35051231;35154160;35251023;35318648;35580925;36010968;36215666;36241641;36252912;36284347;37074911;37781045;37856423;37938771;41018975", "class_list": "", "function": "A homozygous nonsense mutation in DCBLD2 is a candidate cause of developmental delay, dysmorphic features and restrictive cardiomyopathy. Publication Status: Online-Only, [RefSeq, PubMed]; CD146 promotes malignant progression of breast phyllodes tumor through suppressing DCBLD2 degradation and activating the AKT pathway., [RefSeq, PubMed]; CDCBLD2 mediates sorafenib resistance in hepatocellular carcinoma by sponging miR-345-5p binding to the TOP2A coding sequence. Erratum:[Int J Biol Sci. 2025 Jun 16;21(9):4129-4130. doi: 10.7150/ijbs.113876. PMID: 40607248] Publication Status: Online-Only, [RefSeq, PubMed]; ESDN inhibits melanoma progression by blocking E-selectin expression in endothelial cells via STAT3., [RefSeq, PubMed]; MiR-451a suppresses papillary thyroid cancer cell proliferation and invasion and facilitates apoptosis through targeting DCBLD2 and AKT1., [RefSeq, PubMed]; Our study is the first to identify and validate Endofin, DCBLD2, and KIAA0582 as part of a complex EGF phosphotyrosine signaling network, [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": 4, "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": 4, "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": 2, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 8, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B7WNL1;D3DN41;Q8N6M4;Q8TDX2", "ec_number_list": "", "go_molecular_function": "GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane", "go_biological_process": "GO:0030308 negative regulation of cell growth;GO:0030522 intracellular receptor signaling pathway;GO:0042060 wound healing", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "Q96PD2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95822-1", "uniprot_id": "DCMC_HUMAN", "mass": 55003.0, "length": 493, "protein_name": "Malonyl-CoA decarboxylase, mitochondrial", "gene_name": "MLYCD", "organism": "Human", "refseq_name": "malonyl-CoA decarboxylase, mitochondrial", "refseq_ac": "NP_036345", "gene_names_uniprotkb": "MLYCD", "gene_names_refseq": "MCD; MLYCD", "protein_names_uniprotkb": "Malonyl-CoA decarboxylase, mitochondrial; 4.1.1.9; MCD", "protein_names_refseq": "malonyl coenzyme A decarboxylase; malonyl-CoA decarboxylase, mitochondrial", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); malonic aciduria (MONDO:MONDO:0009556)", "pathway": " (hsa:23417)", "pathway_count": 1, "publication_count": 45, "publication_id_list": "10417274;10455107;11237011;12955715;15003260;17081983;18314420;20178365;23481700;23482565;23791943;25505266;25880248;26004805;26375851;26858006;26948533;26992070;28228285;28832583;30315122;30379171;30429286;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32938616;33298915;33537174;33912179;33968037;34087483;34171305;34185709;34357683;34509645;35051231;35580925;36241641;9869665", "class_list": "", "function": "Catalyzes the conversion of malonyl-CoA to acetyl-CoA. In the fatty acid biosynthesis MCD selectively removes malonyl-CoA and thus assures that methyl-malonyl-CoA is the only chain elongating substrate for fatty acid synthase and that fatty acids with multiple methyl side chains are produced. In peroxisomes it may be involved in degrading intraperoxisomal malonyl-CoA, which is generated by the peroxisomal beta-oxidation of odd chain-length dicarboxylic fatty acids. Plays a role in the metabolic balance between glucose and lipid oxidation in muscle independent of alterations in insulin signaling. May play a role in controlling the extent of ischemic injury by promoting glucose oxidation., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Malonyl-CoA decarboxylase deficiency may result from MLYCD mutations that result in protein mistargeting., [RefSeq, PubMed]; Our result expands the phenotype of malonyl-CoA decarboxylase deficiency and suggests attentions should be paid to the mild form of disorders, for example, malonyl-CoA decarboxylase deficiency, which usually present a severe disease course., [RefSeq, PubMed]; The MLYCD catalytic domain is structurally homologous to those of the GCN5-related N-acetyltransferase superfamily., [RefSeq, PubMed]; The product of this gene catalyzes the breakdown of malonyl-CoA to acetyl-CoA and carbon dioxide. Malonyl-CoA is an intermediate in fatty acid biosynthesis, and also inhibits the transport of fatty acyl CoAs into mitochondria. Consequently, the encoded protein acts to increase the rate of fatty acid oxidation. It is found in mitochondria, peroxisomes, and the cytoplasm. Mutations in this gene result in malonyl-CoA decarboyxlase deficiency. [provided by RefSeq, Jul 2008]., [RefSeq]; To identify the active site of MCD, molecular docking and molecular dynamics simulations were performed to explore the interactions of human mitochondrial MCD (HmMCD) and CoA derivatives. The findings reveal that the active site of HmMCD indeed resides in the prominent groove which resembles that of curacin A., [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": 3, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 15, "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": "Q9UNU5;Q9Y3F2", "ec_number_list": "4.1.1.9", "go_molecular_function": "GO:0042802 identical protein binding;GO:0050080 malonyl-CoA decarboxylase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005777 peroxisome;GO:0005782 peroxisomal matrix", "go_biological_process": "GO:0002931 response to ischemia;GO:0006637 acyl-CoA metabolic process;GO:0007584 response to nutrient;GO:0006633 fatty acid biosynthetic process;GO:0010906 regulation of glucose metabolic process", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "O95822-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75177-1", "uniprot_id": "CREST_HUMAN", "mass": 42990.0, "length": 396, "protein_name": "Calcium-responsive transactivator", "gene_name": "SS18L1", "organism": "Human", "refseq_name": "calcium-responsive transactivator isoform 2", "refseq_ac": "NP_001288707", "gene_names_uniprotkb": "SS18L1; CREST; KIAA0693", "gene_names_refseq": "CREST; LP2261; SMARCL2; SS18L1", "protein_names_uniprotkb": "Calcium-responsive transactivator; SS18-like protein 1; SYT homolog 1", "protein_names_refseq": "SS18-like protein 1; SS18L1, nBAF chromatin remodeling complex subunit; SYT homolog 1; calcium-responsive transactivator isoform 2; calcium-responsive transactivator; synovial sarcoma translocation gene on chromosome 18-like 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:26039); (R-HSA-9824585); (R-HSA-9845323); (R-HSA-9933937); (R-HSA-9933947); (R-HSA-9934037)", "pathway_count": 6, "publication_count": 86, "publication_id_list": "10587587;11230166;11237011;11532965;11856727;11964381;12062444;12368262;12696068;1321344;1537333;1537334;15543135;15695812;15729346;15866867;16303920;17182843;17640523;17952075;18331714;18483556;18697795;18765789;18812475;19389701;19717472;21555454;22464331;22952240;23644491;23785148;24267888;24360741;25576301;25892735;26154972;26365797;26601204;26694611;26811146;26992070;27600516;27846572;28218747;28533407;28904123;29374058;29437277;29557506;29786170;30410026;30515787;31154438;31217245;31844290;32157095;32357974;32387766;32488085;32897882;32938616;32983136;33100333;33214551;33298915;33392160;33398438;33592498;33912179;33968037;34019948;35138101;35561310;35580127;35584997;36010968;36284347;38359823;38665916;38907739;40136647;7813420;8306979;8921401;9758418", "class_list": "", "function": "A synovial sarcoma of classic morphology contained a novel t(20;X) SS18L1(strong homology to SS18 on Ch20)/SSX1 fusion transcript in which nucleotide 1216 (exon 10) of SS18L1 was fused in-frame with nucleotide 422 (exon 6) of SSX1., [RefSeq, PubMed]; Analysis of the CREST domain that inhibits dendritic growth in cultured neurons, [RefSeq, PubMed]; Identification of a novel MEF2C::SS18L1 fusion in childhood acute B-lymphoblastic leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; Its mutation causes amyotrophic lateral sclerosis., [RefSeq, PubMed]; Protein expression pattern of calcium-responsive transactivator in early postnatal and adult testes., [RefSeq, PubMed]; The SS18L1 gene rs2295207 polymorphisms in association with hepatocellular carcinoma., [RefSeq, PubMed]; This gene encodes a calcium-responsive transactivator which is an essential subunit of a neuron-specific chromatin-remodeling complex. The structure of this gene is similar to that of the SS18 gene. Mutations in this gene are involved in amyotrophic lateral sclerosis (ALS). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]., [RefSeq]; Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (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": 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": "A6NNE3;A8K620;B3KWR8;E1P5H7;Q5JXJ3;Q6MZV9;Q6NTH3;Q6XYD9;Q8NE69;Q9BR55;Q9H4K6", "ec_number_list": "", "go_molecular_function": "GO:0003713 transcription coactivator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0071565 nBAF complex;GO:0000776 kinetochore", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0045893 positive regulation of DNA-templated transcription;GO:0006325 chromatin organization;GO:0050775 positive regulation of dendrite morphogenesis", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "O75177-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P29317-1", "uniprot_id": "EPHA2_HUMAN", "mass": 108266.0, "length": 976, "protein_name": "Ephrin type-A receptor 2", "gene_name": "EPHA2", "organism": "Human", "refseq_name": "ephrin type-A receptor 2 isoform 1 precursor", "refseq_ac": "NP_004422", "gene_names_uniprotkb": "EPHA2; ECK", "gene_names_refseq": "ARCC2; CTPA; CTPP1; CTRCT6; ECK; EPHA2", "protein_names_uniprotkb": "Ephrin type-A receptor 2; 2.7.10.1; Epithelial cell kinase; Tyrosine-protein kinase receptor ECK", "protein_names_refseq": "ephrin type-A receptor 2 isoform 1 precursor; ephrin type-A receptor 2; epithelial cell receptor protein tyrosine kinase; tyrosine-protein kinase receptor ECK", "tax_id": 9606, "disease": "cataract 6 multiple types (Disease Ontology:DOID:0110229)", "pathway": " (hsa:1969); (R-HSA-2682334); (R-HSA-3928663); (R-HSA-3928665); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013408); (R-HSA-9013420); (R-HSA-9013423); (R-HSA-9013424); (R-HSA-9696264); (R-HSA-9696270); (R-HSA-9696273)", "pathway_count": 13, "publication_count": 454, "publication_id_list": "10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10618392;10652265;10655584;10664463;10699171;10699464;10769020;10847683;10848605;10873802;10958683;11007481;11058585;11085924;11145705;11149925;11179879;11280802;11373293;11396949;11431473;11432776;11448999;11459829;11584276;11672528;11689693;11704860;11707441;11756552;11773441;11780069;11784792;11803464;11804587;11804589;11804590;11864571;11884391;11912491;11919634;11940653;11956649;11961559;11967128;12071859;12084815;12093360;12096337;12167657;12177196;12195014;12221096;12244061;12351724;12376551;12432077;12467573;12495863;12531887;12546821;12547822;12650940;12665586;12842009;12857875;12877655;12923183;12973357;14512443;14514689;14521508;1464587;14675773;14718541;14732713;15023524;15033976;15064355;15107133;15133129;15147912;15169870;15302923;15339924;15342493;15350535;15351694;15485661;15507211;15542837;15556869;15579468;15601624;15611138;15728722;15738000;15777939;15814684;15848799;15848800;15850391;15858067;15897194;15951569;16002401;16081809;16112081;16116428;16184169;16236711;16243035;16243036;16339170;16473593;16481321;16492808;16507994;16511561;16519628;1660188;16636067;16702231;16762923;16777452;16777849;16862148;16896804;16914516;16968698;17016520;17027967;17060455;17077126;17135240;17145773;17158234;17192257;17196961;17214551;17244649;17269730;17322526;17332925;17344846;17355222;17389395;17428795;17504809;17583407;17599059;17698854;17702745;17765681;17804252;17928214;17976533;18006505;18045877;18056264;18083107;18191593;18218625;18249095;18339848;18347018;18387945;18396277;18426980;18578522;18593464;18653540;18662984;18669648;18691976;18697831;18707149;18713744;18794797;18838382;18996843;19005574;19064640;19103606;19136556;19159218;19269969;19306328;19369195;19415658;19494238;19525919;19534724;19567782;19573808;19581409;19605563;19649315;19651622;19673492;19713215;19934221;20058876;20068231;20223987;20400958;20460433;20496116;20505120;20547754;20679435;20810653;20811643;20861311;21148482;21151158;21378159;21408136;21508312;21516087;21542010;21565175;21613211;21621533;21730051;2174105;21865595;21989057;22004470;22096251;22298643;22332920;22339630;22407364;22475431;22570727;22608513;22635007;22734669;22970203;23090970;23186163;23209303;23255595;23288169;23315987;23345538;23358419;23434736;23572525;23707487;23718289;23757206;23772378;23870057;23936024;23940355;24023389;24086303;24190977;24259668;24335996;24352656;24457997;24486585;24623723;24659802;24690281;24859002;24888813;24933155;24960694;25024229;25211221;25239188;25325015;25344320;25424847;25428919;25478832;25576301;25704760;25721503;25795300;25813380;25862245;25888806;26016997;26129894;26158630;26529257;26598620;26628301;26861043;26887924;26969432;26984745;27117132;27132626;27145964;27216196;27246245;27281300;27324091;27326255;27385333;27481945;27533087;27555588;27566826;27624914;27713499;27742560;27806292;28114311;28196833;28356423;28581527;28636467;28705041;28883622;28957431;28966234;29048432;29089502;29262644;29292383;29292384;29351356;29358323;29382922;29741879;29946230;29956803;30222105;30412282;30583071;30779550;30833945;30850685;30853411;31160603;31389670;31484920;31844290;31848261;31871319;31887630;32005975;32115889;32157095;32165640;32203420;32376822;32413552;32417448;32737221;32750331;32762307;32848131;32897354;32938616;33196021;33214551;33328764;33592498;33833989;33879771;33893375;33968037;33981976;34019948;34087483;34171305;34484860;34725712;35051231;35110502;35124461;35154160;35318648;35561310;35580925;35668076;35874702;35970390;36010968;36063341;36215666;36241641;36284347;37146061;37217939;38665916;38838777;38916835;39056783;39327735;7476457;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8537347;8543060;8643598;8645157;8649376;8662891;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9113980;9252344;9305890;9438849;9490638;9497316;9499402;9531558;9582072;9659915;9670022;9705280;9778532;9792683;9822598;9822605;9843499;9988689", "class_list": "", "function": "(Microbial infection) Acts as a receptor for hepatitis C virus (HCV) in hepatocytes and facilitates its cell entry. Mediates HCV entry by promoting the formation of the CD81-CLDN1 receptor complexes that are essential for HCV entry and by enhancing membrane fusion of cells expressing HCV envelope glycoproteins., [UniProtKB, PubMed]; Acts as a receptor for human cytomegalovirus (HCMV) to mediate viral entry and fusion in glioblastoma cells., [UniProtKB, PubMed]; EphA2 promotes the transcription of KLF4 to facilitate stemness in oral squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor tyrosine kinase which binds promiscuously membrane-bound ephrin-A 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. Activated by the ligand ephrin-A1/EFNA1 regulates migration, integrin-mediated adhesion, proliferation and differentiation of cells. Regulates cell adhesion and differentiation through DSG1/desmoglein-1 and inhibition of the ERK1/ERK2 (MAPK3/MAPK1, respectively) signaling pathway. May also participate in UV radiation-induced apoptosis and have a ligand-independent stimulatory effect on chemotactic cell migration. During development, may function in distinctive aspects of pattern formation and subsequently in development of several fetal tissues. Involved for instance in angiogenesis, in early hindbrain development and epithelial proliferation and branching morphogenesis during mammary gland development. Engaged by the ligand ephrin-A5/EFNA5 may regulate lens fiber cells shape and interactions and be important for lens transparency development and maintenance. With ephrin-A2/EFNA2 may play a role in bone remodeling through regulation of osteoclastogenesis and osteoblastogenesis., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; TYRO3 and EPHA2 Expression Are Dysregulated in Breast Cancer., [RefSeq, PubMed]; The EphA2 Receptor Regulates Invasiveness and Drug Sensitivity in Canine and Human Osteosarcoma 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. Mutations in this gene are the cause of certain genetically-related cataract disorders.[provided by RefSeq, May 2010]., [RefSeq]; Transmembrane helix interactions regulate oligomerization of the receptor tyrosine kinase EphA2., [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": 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": 35, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 38, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 8, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B5A968;Q8N3Z2", "ec_number_list": "2.3.2.26;2.7.11.1;3.4.24.81;2.7.12.2;3.1.4.4;2.7.10.1;2.7.10.2;2.7.12.1;7.1.1.2;3.4.17.22;1.6.3.-;2.7.3.2;2.7.1.40;3.6.5.2;2.1.2.1;2.7.1.32;2.7.1.82;2.7.10.4;2.7.1.153;2.7.1.137;1.2.1.3;1.2.1.94;2.7.11.13;3.1.3.48;2.7.11.39;2.7.11.23;2.7.11.25;2.3.2.27;3.4.19.12;3.6.4.13", "go_molecular_function": "GO:0005524 ATP binding;GO:0019838 growth factor binding;GO:0045296 cadherin binding;GO:0001618 virus receptor activity;GO:0004714 transmembrane receptor protein tyrosine kinase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0009986 cell surface;GO:0030027 lamellipodium;GO:0030054 cell junction", "go_biological_process": "GO:0030316 osteoclast differentiation;GO:0046058 cAMP metabolic process;GO:0001525 angiogenesis;GO:0007155 cell adhesion;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway", "synthesized_glycan_count": 0, "hit_score": 46.7, "record_id": "P29317-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75564-1", "uniprot_id": "JERKY_HUMAN", "mass": 61815.0, "length": 556, "protein_name": "Jerky protein homolog", "gene_name": "JRK", "organism": "Human", "refseq_name": "jerky protein homolog isoform b", "refseq_ac": "NP_001070995", "gene_names_uniprotkb": "JRK; JH8", "gene_names_refseq": "JH8; JRK; jerky", "protein_names_uniprotkb": "Jerky protein homolog", "protein_names_refseq": "Jrk homolog; jerky homolog; jerky protein homolog isoform b; jerky protein homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:8629)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;23186163;26455321;26992070;28708826;29493099;29557506;31217245;31844290;32157095;33298915;33912179;33968037;34087483;34171305;35051231;35580925;36010968;36241641;37340703;38946594;9675132", "class_list": "", "function": "In the adult intestine, Ebd acts independently of Ewg in physiological Wnt signaling, but cooperates with Ewg to induce the hyperactivation of Wnt target gene expression following Apc1 loss. These findings have relevance for human tumorigenesis, as Jerky (JRK/JH8), the human Ebd homolog, promotes Wnt pathway hyperactivation and is overexpressed in colorectal, breast, and ovarian cancers Publication Status: Online-Only, [RefSeq, PubMed]; JRK binds satellite III DNA and is necessary for the heat shock response., [RefSeq, PubMed]; JRK expression was aberrantly elevated in 21% of colorectal cancers, 15% of breast and ovarian cancers and was associated with increased expression of beta-catenin target genes and increased cell proliferation, [RefSeq, PubMed]; May bind DNA., [UniProtKB]; This gene encodes a conserved protein that is similar to DNA-binding proteins, such as major centromere autoantigen B (CENPB). Inactivation of the related gene in mice resulted in epileptic seizures. Childhood Absence Epilepsy (CAE) has been mapped to the same chromosomal location (8q24.3) as this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 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": 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": 9, "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": "D3DWI5;O75565;Q86XJ5", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003729 mRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0090263 positive regulation of canonical Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "O75564-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O94916-1", "uniprot_id": "NFAT5_HUMAN", "mass": 165763.0, "length": 1531, "protein_name": "Nuclear factor of activated T-cells 5", "gene_name": "NFAT5", "organism": "Human", "refseq_name": "nuclear factor of activated T-cells 5 isoform d", "refseq_ac": "NP_001106649", "gene_names_uniprotkb": "NFAT5; KIAA0827; TONEBP", "gene_names_refseq": "NF-AT5; NFAT5; NFATL1; NFATZ; OREBP; TONEBP", "protein_names_uniprotkb": "Nuclear factor of activated T-cells 5; NF-AT5; T-cell transcription factor NFAT5; TonE-binding protein; TonEBP; Tonicity-responsive enhancer-binding protein", "protein_names_refseq": "NFAT-like protein 1; T-cell transcription factor NFAT5; TonE-binding protein; glutamine rich protein H65; nuclear factor of activated T-cells 5 isoform d; nuclear factor of activated T-cells 5, tonicity-responsive; osmotic response element-binding protein; tonicity-responsive enhancer-binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:10725)", "pathway_count": 1, "publication_count": 90, "publication_id_list": "10051678;10377394;10565538;11046013;11233530;11237011;11485737;11528118;11780147;11934689;15173573;18669648;20068231;20351292;21209322;22266867;22992674;23186163;23301498;23481700;24614757;24714562;25114211;25218447;25576301;25645385;25755297;25772364;25880248;26728094;26992070;27600516;27846572;28063628;28228285;28832583;28834231;28904123;29242379;29393594;29557506;29632046;29632711;29786170;30190682;30315122;30429286;30484775;31844290;32157095;32265295;32357974;32488085;32502341;32938616;32983136;33214551;33298915;33392160;33592498;33691108;33912179;33936100;33968037;33981976;34019948;34049076;34087483;34171305;34185709;34357683;34405274;34725712;35051231;35138101;35154160;35580925;36010968;36215666;36241641;37938771;38438872;38612478;38665916;38724321;38780486;39432061;39531497;39534244;41652173", "class_list": "", "function": "Differentiation and immunosuppressive function of CD19[+]CD24[hi]CD27[+] regulatory B cells are regulated through the miR-29a-3p/NFAT5 pathway., [RefSeq, PubMed]; Induced upon T cell activation in a calcineurin-dependent manner, which contrasts with the calcineurin-independent induction mediated by hyperosmotic stress., [RefSeq, PubMed]; LncRNA AP000842.3 Triggers the Malignant Progression of Prostate Cancer by Regulating Cuproptosis Related Gene NFAT5., [RefSeq, PubMed]; NFAT5 governs cellular plasticity-driven resistance to KRAS-targeted therapy in pancreatic cancer., [RefSeq, PubMed]; Rel Family Transcription Factor NFAT5 Upregulates COX2 via HIF-1alpha Activity in Ishikawa and HEC1a Cells. Publication Status: Online-Only, [RefSeq, PubMed]; The product of this gene is a member of the nuclear factors of activated T cells family of transcription factors. Proteins belonging to this family play a central role in inducible gene transcription during the immune response. This protein regulates gene expression induced by osmotic stress in mammalian cells. Unlike monomeric members of this protein family, this protein exists as a homodimer and forms stable dimers with DNA elements. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; TonEBP/NFAT5 expression is associated with cisplatin resistance and migration in macrophage-induced A549 cells. Publication Status: Online-Only, [RefSeq, PubMed]; Transcription factor involved, among others, in the transcriptional regulation of osmoprotective and inflammatory genes (PubMed:10377394, PubMed:11485737, PubMed:41652173). Binds the DNA consensus sequence 5'-[ACT][AG]TGGAAA[CAT]A[TA][ATC][CA][ATG][GT][GAC][CG][CT]-3' (PubMed:10377394, PubMed:11485737). Mediates the transcriptional response to hypertonicity (PubMed:10051678). Positively regulates the transcription of LCN2 and S100A4 genes; optimal transactivation of these genes requires the presence of DDX5/DDX17 (PubMed:22266867). Also involved in the DNA damage response by preventing formation of R-loops; R-loops are composed of a DNA:RNA hybrid and the associated non-template single-stranded DNA (PubMed:34049076)., [UniProtKB, PubMed, 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": 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": 8, "reported_glycation": 0, "reported_snv": 29, "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": "A2RRB4;A6H8V5;E9PHR7;O95693;Q7LA65;Q969Q8;Q96QH3;Q9UN18", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin 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:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005667 transcription regulator complex;GO:0000785 chromatin", "go_biological_process": "GO:1904996 positive regulation of leukocyte adhesion to vascular endothelial cell;GO:0007165 signal transduction;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006974 DNA damage response;GO:0043123 positive regulation of canonical NF-kappaB signal transduction", "synthesized_glycan_count": 0, "hit_score": 9.4, "record_id": "O94916-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UJF2-1", "uniprot_id": "NGAP_HUMAN", "mass": 128558.0, "length": 1139, "protein_name": "Ras GTPase-activating protein nGAP", "gene_name": "RASAL2", "organism": "Human", "refseq_name": "ras GTPase-activating protein nGAP isoform 1", "refseq_ac": "NP_004832", "gene_names_uniprotkb": "RASAL2; NGAP", "gene_names_refseq": "NGAP; RASAL2", "protein_names_uniprotkb": "Ras GTPase-activating protein nGAP; RAS protein activator-like 2", "protein_names_refseq": "RASAL2/ACVR1 fusion; Ras protein activator like 1; ras GTPase-activating protein nGAP isoform 1; ras GTPase-activating protein nGAP", "tax_id": 9606, "disease": "developmental disorder of mental health (Disease Ontology:DOID:0060037)", "pathway": " (hsa:9462); (R-HSA-5658442); (R-HSA-9696264); (R-HSA-9696273)", "pathway_count": 4, "publication_count": 88, "publication_id_list": "10.1101/2023.09.13.557529;10664463;11237011;11493923;11784792;11940653;12600938;12646235;12787671;12842009;15683364;1570011;15738000;16478641;16959974;17081983;18669648;18996843;19103606;19413330;19573811;19664994;19664995;20068231;20811643;20816195;2121370;21406692;22751498;22802525;23186163;23443682;23661552;24275569;24690281;24814062;25548167;25576301;25645385;26154972;26969432;26992070;27600516;27846572;27862975;27920218;28411811;29242379;29393594;29557506;29786170;30315122;30379171;30429286;30484775;31844290;31871319;32157095;32387766;32488085;32897882;32938616;32983136;33298915;33592498;33912179;33968037;34087483;34171305;34405274;34509645;35051231;35580925;35844783;36010968;36215666;36241641;36284347;36790221;37938771;38159595;38453052;8563751;8649376;9219684;9302992;9531558;9877179", "class_list": "", "function": "CAMSAP2 enhances lung cancer cell metastasis by mediating RASAL2 degradation., [RefSeq, PubMed]; Germline variation in RASAL2 may predict survival in patients with RAS-activated colorectal cancer., [RefSeq, PubMed]; Inhibitory regulator of the Ras-cyclic AMP pathway., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; RAS protein activator-like 2 (RASAL2) initiates peritubular capillary rarefaction in hypoxic renal interstitial fibrosis., [RefSeq, PubMed]; RASAL2 mediated the enhancement of YAP1/TIAM1 signaling promotes malignant phenotypes of pancreatic ductal adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that contains the GAP-related domain (GRD), a characteristic domain of GTPase-activating proteins (GAPs). GAPs function as activators of Ras superfamily of small GTPases. The protein encoded by this gene is able to complement the defective RasGAP function in a yeast system. Two alternatively spliced transcript variants of this gene 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": 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": 14, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 36, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "F8W755;O95174;Q2TB22;Q5TFU9", "ec_number_list": "", "go_molecular_function": "GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0007165 signal transduction;GO:0060612 adipose tissue development;GO:0035264 multicellular organism growth;GO:0009749 response to glucose;GO:1902531 regulation of intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "Q9UJF2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60603-1", "uniprot_id": "TLR2_HUMAN", "mass": 89838.0, "length": 784, "protein_name": "Toll-like receptor 2", "gene_name": "TLR2", "organism": "Human", "refseq_name": "toll-like receptor 2 precursor", "refseq_ac": "NP_001305716", "gene_names_uniprotkb": "TLR2; TIL4", "gene_names_refseq": "CD282; TIL4; TLR2", "protein_names_uniprotkb": "Toll-like receptor 2; Toll/interleukin-1 receptor-like protein 4", "protein_names_refseq": "toll-like receptor 2 precursor; toll/interleukin-1 receptor-like protein 4", "tax_id": 9606, "disease": "sinusitis (Disease Ontology:DOID:0050127); alcohol dependence (Disease Ontology:DOID:0050741); renal fibrosis (Disease Ontology:DOID:0050855); ileitis (Disease Ontology:DOID:0060189); atrial fibrillation (Disease Ontology:DOID:0060224); mastoiditis (Disease Ontology:DOID:0060322); metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); meningococcal meningitis (Disease Ontology:DOID:0080176); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); urinary tract infection (Disease Ontology:DOID:0080784); acute necrotizing pancreatitis (Disease Ontology:DOID:0080998); hymenolepiasis (Disease Ontology:DOID:10074); dry eye syndrome (Disease Ontology:DOID:10140); dermatomyositis (Disease Ontology:DOID:10223); leprosy (Disease Ontology:DOID:1024); prostate cancer (Disease Ontology:DOID:10283); stomach cancer (Disease Ontology:DOID:10534); kidney failure (Disease Ontology:DOID:1074); otitis media (Disease Ontology:DOID:10754); Kuhnt-Junius degeneration (Disease Ontology:DOID:10873); cholesteatoma of middle ear (Disease Ontology:DOID:10964); urinary bladder cancer (Disease Ontology:DOID:11054); anogenital venereal wart (Disease Ontology:DOID:11168); suppurative otitis media (Disease Ontology:DOID:11506); alveolar echinococcosis (Disease Ontology:DOID:12148); vitiligo (Disease Ontology:DOID:12306); carotid stenosis (Disease Ontology:DOID:13001); Behcet's disease (Disease Ontology:DOID:13241); pulmonary sarcoidosis (Disease Ontology:DOID:13406); familial combined hyperlipidemia (Disease Ontology:DOID:13809); alcoholic liver cirrhosis (Disease Ontology:DOID:14018); anterior uveitis (Disease Ontology:DOID:1407); cystic echinococcosis (Disease Ontology:DOID:1495); alcohol use disorder (Disease Ontology:DOID:1574); diffuse scleroderma (Disease Ontology:DOID:1580); breast cancer (Disease Ontology:DOID:1612); transient cerebral ischemia (Disease Ontology:DOID:224); asthma (Disease Ontology:DOID:2841); severe acute respiratory syndrome (Disease Ontology:DOID:2945); pulmonary tuberculosis (Disease Ontology:DOID:2957); skin papilloma (Disease Ontology:DOID:3178); atopic dermatitis (Disease Ontology:DOID:3310); middle cerebral artery infarction (Disease Ontology:DOID:3525); tuberculosis (Disease Ontology:DOID:399); glucose metabolism disease (Disease Ontology:DOID:4194); allergic rhinitis (Disease Ontology:DOID:4481); rhinitis (Disease Ontology:DOID:4483); keratitis (Disease Ontology:DOID:4677); pancreatitis (Disease Ontology:DOID:4989); eye disease (Disease Ontology:DOID:5614); uric acid nephrolithiasis (Disease Ontology:DOID:580); primary immunodeficiency disease (Disease Ontology:DOID:612); acne (Disease Ontology:DOID:6543); hepatocellular carcinoma (Disease Ontology:DOID:684); end stage renal disease (Disease Ontology:DOID:783); peritonitis (Disease Ontology:DOID:8283); lung disease (Disease Ontology:DOID:850); gastroesophageal reflux disease (Disease Ontology:DOID:8534); collagen disease (Disease Ontology:DOID:854); perinatal necrotizing enterocolitis (Disease Ontology:DOID:8677); cholesteatoma (Disease Ontology:DOID:869); bacterial pneumonia (Disease Ontology:DOID:874); seborrheic dermatitis (Disease Ontology:DOID:8741); molluscum contagiosum (Disease Ontology:DOID:8867); psoriasis (Disease Ontology:DOID:8893); cutaneous leishmaniasis (Disease Ontology:DOID:9111); colorectal cancer (Disease Ontology:DOID:9256); type 2 diabetes mellitus (Disease Ontology:DOID:9352); keratoconjunctivitis (Disease Ontology:DOID:9368); type 1 diabetes mellitus (Disease Ontology:DOID:9744); leprosy, susceptibility to, 3 (MONDO:MONDO:0009518)", "pathway": " (hsa:7097); (R-HSA-1236974); (R-HSA-1461957); (R-HSA-166058); (R-HSA-168179); (R-HSA-168188); (R-HSA-5602498); (R-HSA-5603041); (R-HSA-5686938); (R-HSA-6798695); (R-HSA-9637628); (R-HSA-9705671); (R-HSA-9833110)", "pathway_count": 13, "publication_count": 226, "publication_id_list": "10364168;10426995;10426996;10465784;10490993;10521347;10549626;10914484;11081518;11085990;11123271;11237011;11441107;11476982;11509636;11544529;11607032;11702237;11724772;11934878;11960013;12019269;12110890;12138165;12140561;12214235;12297423;12447441;12447442;12471095;12637671;12646604;12692549;12724322;12759408;12817025;14625308;14976261;14977973;15173186;15208624;15241424;15585605;15714590;15809303;15944945;16024789;16213021;16439361;16455995;16622205;16751103;16754682;16819971;16834340;16855214;16878026;16880211;17141195;17322885;17485511;17486091;17726518;17767165;17878161;17878374;17889651;17890055;17893200;18006661;18070880;18070982;18178856;18354232;18420935;18438411;18559343;18669862;18692471;18810425;18829464;18990700;19112167;19217269;19224918;19362712;19498957;19506249;19509286;19592493;19592497;19924287;20037584;20410276;20473308;20483750;20485341;20800577;20966070;21078852;21122132;21606490;21618349;21625017;21871094;22090124;22153078;22320262;22344226;22454496;22489132;22665377;22941947;23376921;23446148;23481700;23613522;23650620;24190977;24316379;24833748;24840642;25083866;25356553;25359607;25385819;25854864;25880347;25892735;26166760;26992070;27452731;27726376;27742543;27805901;28832583;29242379;29557506;29632711;29741879;29786170;29789417;30115681;31154438;31608988;31848261;31850239;32125861;32350084;32353859;32387766;32428392;32589897;32726803;32728199;32938616;32953130;32979938;32983136;33024073;33043033;33060197;33091337;33097660;33110251;33349665;33360543;33372174;33372854;33392160;33396605;33440148;33479219;33495715;33514628;33567255;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33936100;33963333;33968037;33989516;33990585;34021074;34054808;34084167;34110168;34166398;34185709;34239064;34290717;34341353;34375313;34400613;34439781;34452305;34471099;34502139;34509645;34597346;35051231;35102342;35580925;35643212;36102648;36284347;37051252;37074911;39029768;39062973;39356380;7685021;8692836;8837778;9008162;9430229;9435236;9541493;9596645;9751057", "class_list": "", "function": "Association between Toll-like receptor 2 rs4696483 and rs1898830 polymorphisms and the risk of triple-negative breast cancer., [RefSeq, PubMed]; Cooperates with LY96 to mediate the innate immune response to bacterial lipoproteins and other microbial cell wall components. Cooperates with TLR1 or TLR6 to mediate the innate immune response to bacterial lipoproteins or lipopeptides (PubMed:17889651, PubMed:21078852). Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response. May also activate immune cells and promote apoptosis in response to the lipid moiety of lipoproteins (PubMed:10426995, PubMed:10426996). Recognizes mycoplasmal macrophage-activating lipopeptide-2kD (MALP-2), soluble tuberculosis factor (STF), phenol-soluble modulin (PSM) and B.burgdorferi outer surface protein A lipoprotein (OspA-L) cooperatively with TLR6 (PubMed:11441107). Stimulation of monocytes in vitro with M.tuberculosis PstS1 induces p38 MAPK and ERK1/2 activation primarily via this receptor, but also partially via TLR4 (PubMed:16622205). MAPK activation in response to bacterial peptidoglycan also occurs via this receptor (PubMed:16622205). Acts as a receptor for M.tuberculosis lipoproteins LprA, LprG, LpqH and PstS1, some lipoproteins are dependent on other coreceptors (TLR1, CD14 and/or CD36); the lipoproteins act as agonists to modulate antigen presenting cell functions in response to the pathogen (PubMed:19362712). M.tuberculosis HSP70 (dnaK) but not HSP65 (groEL-2) acts via this protein to stimulate NF-kappa-B expression (PubMed:15809303). Recognizes M.tuberculosis major T-antigen EsxA (ESAT-6) which inhibits downstream MYD88-dependent signaling (shown in mouse) (By similarity). Forms activation clusters composed of several receptors depending on the ligand, these clusters trigger signaling from the cell surface and subsequently are targeted to the Golgi in a lipid-raft dependent pathway. Forms the cluster TLR2:TLR6:CD14:CD36 in response to diacylated lipopeptides and TLR2:TLR1:CD14 in response to triacylated lipopeptides (PubMed:16880211). Required for normal uptake of M.tuberculosis, a process that is inhibited by M.tuberculosis LppM (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Propose that formation of the TLR1-TLR2 heterodimer brings the intracellular TIR domains close to each other to promote dimerization and initiate signaling., [RefSeq, PubMed]; TLR2 and TLR4 Are Expressed in Epiretinal Membranes: Possible Links with Vitreous Levels of Complement Fragments and DAMP-Related Proteins. Publication Status: Online-Only, [RefSeq, PubMed]; TLR2 reprograms glucose metabolism in CD4[+] T cells of rheumatoid arthritis patients to mediate cell hyperactivation and TNF-alpha secretion., [RefSeq, PubMed]; The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. This protein is a cell-surface protein that can form heterodimers with other TLR family members to recognize conserved molecules derived from microorganisms known as pathogen-associated molecular patterns (PAMPs). Activation of TLRs by PAMPs leads to an up-regulation of signaling pathways to modulate the host's inflammatory response. This gene is also thought to promote apoptosis in response to bacterial lipoproteins. This gene has been implicated in the pathogenesis of several autoimmune diseases. 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": 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": 3, "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": 10, "reported_glycation": 0, "reported_snv": 34, "reported_interactions": 0, "missing_score": 1029, "biomarker_type": "", "glycan_count": 16, "disease_count": 71, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B3Y612;D1CS45;D1CS48;D1CS49;O15454;Q8NI00", "ec_number_list": "", "go_molecular_function": "GO:0042834 peptidoglycan binding;GO:0042497 triacyl lipopeptide binding;GO:0004888 transmembrane signaling receptor activity;GO:0042802 identical protein binding;GO:0001540 amyloid-beta binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0043235 receptor complex", "go_biological_process": "GO:0032741 positive regulation of interleukin-18 production;GO:0042496 detection of diacyl bacterial lipopeptide;GO:0071221 cellular response to bacterial lipopeptide;GO:1904466 positive regulation of matrix metallopeptidase secretion;GO:0006954 inflammatory response", "synthesized_glycan_count": 0, "hit_score": 24.7, "record_id": "O60603-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P57764-1", "uniprot_id": "GSDMD_HUMAN", "mass": 52801.0, "length": 484, "protein_name": "Gasdermin-D", "gene_name": "GSDMD", "organism": "Human", "refseq_name": "gasdermin-D", "refseq_ac": "NP_001159709", "gene_names_uniprotkb": "GSDMD; DFNA5L; FKSG10; GSDMDC1", "gene_names_refseq": "DF5L; DFNA5L; FKSG10; GSDMDC1; GSDMD", "protein_names_uniprotkb": "Gasdermin-D; 13 kDa GSDMD; Gasdermin domain-containing protein 1; Gasdermin-D, 13 kDa", "protein_names_refseq": "gasdermin domain containing 1; gasdermin domain-containing protein 1; gasdermin-D", "tax_id": 9606, "disease": "lung adenocarcinoma (Disease Ontology:DOID:3910)", "pathway": " (hsa:79792); (R-HSA-111457); (R-HSA-111458); (R-HSA-111461); (R-HSA-448706); (R-HSA-5620971); (R-HSA-5686938); (R-HSA-6798695); (R-HSA-9660826); (R-HSA-9960519); (R-HSA-9960525)", "pathway_count": 11, "publication_count": 148, "publication_id_list": "10972280;11237011;11313357;11509636;11724772;11734640;12110890;12214235;12660240;12817025;12941691;15289881;15592455;1574116;16213021;16754682;16834340;16855214;16878026;16897187;17641058;17724022;17767165;18354232;18559343;18669648;18990700;19051310;19112167;19859801;20037584;20068231;20230923;20473308;21871094;22344226;22489132;23446148;23481700;23521171;23650620;23817414;23878142;24275569;24366607;24833748;25313070;25418920;25576301;25880248;25880347;26116704;26375003;26375259;26508369;26811146;26992070;27281216;27383986;27418190;27452731;27697150;27742543;27846572;28045099;28192157;28218747;28392147;28459430;28679757;28832583;28928145;29177860;29242379;29393594;29437277;29539421;29557506;29576317;29695864;29786170;29891674;29898893;29990470;30143555;30315122;30524438;30976076;31097341;31113851;31608988;31844290;32109412;32157095;32188940;32367036;32387766;32488085;32502341;32820063;32897882;32938616;32983136;33141586;33298915;33472215;33717175;33723046;33883744;33968037;34289345;34492225;34509645;35051231;35318648;35580925;35594856;35794369;36010968;36227980;36599845;36991122;36991125;37198476;37327784;37558421;37938771;37962578;37993712;37993714;38040708;38324683;38530158;38599239;38980908;38993566;39260418;39468189;40097387;40118151;40914422;7685021;8044845;8692836;8999548;9121587;9267021;9390557", "class_list": "", "function": "Gasdermin D is a member of the gasdermin family. Members of this family appear to play a role in regulation of epithelial proliferation. Gasdermin D has been suggested to act as a tumor suppressor. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2009]., [RefSeq]; Gasdermin D-mediated metabolic crosstalk promotes tissue repair., [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]; Palmitoylation at a conserved cysteine residue facilitates gasdermin D-mediated pyroptosis and cytokine release., [RefSeq, PubMed]; Precursor of a pore-forming protein that plays a key role in host defense against pathogen infection and danger signals (PubMed:26375003, PubMed:26375259, PubMed:27281216). This form constitutes the precursor of the pore-forming protein: upon cleavage, the released N-terminal moiety (Gasdermin-D, N-terminal) binds to membranes and forms pores, triggering pyroptosis (PubMed:26375003, PubMed:26375259, PubMed:27281216, PubMed:40118151)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Produced by the cleavage by papain allergen (PubMed:35794369). After cleavage, moves to the plasma membrane and homooligomerizes within the membrane and forms pores of 10-15 nanometers (nm) of inner diameter, allowing the specific release of mature interleukin-33 (IL33), promoting type 2 inflammatory immune response (PubMed:35794369)., [UniProtKB, PubMed]; Promotes pyroptosis in response to microbial infection and danger signals (PubMed:26375003, PubMed:26375259, PubMed:27418190, PubMed:28392147, PubMed:32820063, PubMed:34289345, PubMed:38040708, PubMed:38530158, PubMed:38599239). Produced by the cleavage of gasdermin-D by inflammatory caspases CASP1, CASP4 or CASP5 in response to canonical, as well as non-canonical (such as cytosolic LPS) inflammasome activators (PubMed:26375003, PubMed:26375259, PubMed:27418190). After cleavage, moves to the plasma membrane where it strongly binds to inner leaflet lipids, including monophosphorylated phosphatidylinositols, such as phosphatidylinositol 4-phosphate, bisphosphorylated phosphatidylinositols, such as phosphatidylinositol (4,5)-bisphosphate, as well as phosphatidylinositol (3,4,5)-bisphosphate, and more weakly to phosphatidic acid and phosphatidylserine (PubMed:27281216, PubMed:29898893, PubMed:36227980). Homooligomerizes within the membrane and forms pores of 10-15 nanometers (nm) of inner diameter, allowing the release of mature interleukin-1 (IL1B and IL18) and triggering pyroptosis (PubMed:27281216, PubMed:27418190, PubMed:29898893, PubMed:33883744, PubMed:38040708, PubMed:38530158, PubMed:38599239). Gasdermin pores also allow the release of mature caspase-7 (CASP7) (By similarity). In some, but not all, cells types, pyroptosis is followed by pyroptotic cell death, which is caused by downstream activation of ninjurin-1 (NINJ1), which mediates membrane rupture (cytolysis) (PubMed:33472215, PubMed:37198476). Also forms pores in the mitochondrial membrane, resulting in release of mitochondrial DNA (mtDNA) into the cytosol (By similarity). Gasdermin-D, N-terminal released from pyroptotic cells into the extracellular milieu rapidly binds to and kills both Gram-negative and Gram-positive bacteria, without harming neighboring mammalian cells, as it does not disrupt the plasma membrane from the outside due to lipid-binding specificity (PubMed:27281216). Under cell culture conditions, also active against intracellular bacteria, such as Listeria monocytogenes (By similarity). Also active in response to MAP3K7/TAK1 inactivation by Yersinia toxin YopJ, which triggers cleavage by CASP8 and subsequent activation (By similarity). Required for mucosal tissue defense against enteric pathogens (By similarity). Activation of the non-canonical inflammasome in brain endothelial cells can lead to excessive pyroptosis, leading to blood-brain barrier breakdown (By similarity). Strongly binds to bacterial and mitochondrial lipids, including cardiolipin (PubMed:27281216). Does not bind to unphosphorylated phosphatidylinositol, phosphatidylethanolamine nor phosphatidylcholine (PubMed:27281216)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Study investigated the expression pattern of the GSDM family genes in the upper gastrointestinal epithelium and cancers., [RefSeq, PubMed]; TNF-a induces mitochondrial dysfunction to drive NLRP3/Caspase-1/GSDMD-mediated pyroptosis in MCF-7 cells. Publication Status: Online-Only, [RefSeq, PubMed]; Transcription coactivator produced by the cleavage by CASP3 or CASP7 in the upper small intestine in response to dietary antigens (By similarity). Required to maintain food tolerance in small intestine: translocates to the nucleus and acts as a coactivator for STAT1 to induce the transcription of CIITA and MHC class II molecules, which in turn induce type 1 regulatory T (Tr1) cells in upper small intestine (By similarity)., [UniProtKB, UniProtKB]", "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": 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": 1, "reported_phosphosites": 6, "reported_mutagensis": 38, "reported_glycation": 0, "reported_snv": 6, "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": "A8K702;D3DWJ9;Q96Q98", "ec_number_list": "", "go_molecular_function": "GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0070273 phosphatidylinositol-4-phosphate binding;GO:0001786 phosphatidylserine binding;GO:0070300 phosphatidic acid binding;GO:0022829 wide pore channel activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045087 innate immune response;GO:0050829 defense response to Gram-negative bacterium;GO:0050830 defense response to Gram-positive bacterium;GO:0051260 protein homooligomerization", "synthesized_glycan_count": 0, "hit_score": 15.1, "record_id": "P57764-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZW13-1", "uniprot_id": "CP086_HUMAN", "mass": 33511.0, "length": 317, "protein_name": "Uncharacterized protein C16orf86", "gene_name": "C16orf86", "organism": "Human", "refseq_name": "uncharacterized protein C16orf86", "refseq_ac": "NP_001013002", "gene_names_uniprotkb": "C16orf86", "gene_names_refseq": "C16orf86", "protein_names_uniprotkb": "Uncharacterized protein C16orf86", "protein_names_refseq": "uncharacterized protein C16orf86", "tax_id": 9606, "disease": "", "pathway": " (hsa:388284)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;32387766;34509645;35580925", "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": "B5MCW6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q6ZW13-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43293-1", "uniprot_id": "DAPK3_HUMAN", "mass": 52536.0, "length": 454, "protein_name": "Death-associated protein kinase 3", "gene_name": "DAPK3", "organism": "Human", "refseq_name": "death-associated protein kinase 3", "refseq_ac": "NP_001339", "gene_names_uniprotkb": "DAPK3; ZIPK", "gene_names_refseq": "DAPK3; DLK; ZIPK; ZIP", "protein_names_uniprotkb": "Death-associated protein kinase 3; 2.7.11.1; DAP kinase 3; DAP-like kinase; Dlk; MYPT1 kinase; ZIP-kinase; Zipper-interacting protein kinase", "protein_names_refseq": "DAP kinase 3; DAP-like kinase; MYPT1 kinase; ZIP-kinase; death-associated protein kinase 3; zipper-interacting protein kinase", "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:1613); (R-HSA-418889)", "pathway_count": 2, "publication_count": 125, "publication_id_list": "10356987;11237011;11248093;11384979;11781833;12011067;12042320;12917339;15096528;15104674;15292222;15310786;15367680;15573119;15611134;15910542;16158190;16219639;16325270;16756490;17126281;17158456;17344846;17953487;18084323;18239682;18515077;18995835;20112406;20854903;21169990;21408167;21454679;21487036;22645359;23186163;23454120;23481700;24366607;24714562;24715725;25418920;25469497;25576301;25645385;26154972;26728094;26811146;26929215;26992070;27573465;27600516;27846572;27920218;28063628;28218747;28228285;28514659;28649982;28832583;28834231;28855257;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30410026;30429286;30484775;30524438;30779550;31154438;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32306542;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33717175;33936100;33968037;33981976;34087483;34171305;34357683;34405274;34509645;34561969;34932366;35051231;35561310;35580925;35961135;36010968;36284347;37084168;37700438;37938771;38009294;38563090;38665916;9488481;9796814", "class_list": "", "function": "Death-associated protein kinase 3 (DAPK3) induces morphological changes in apoptosis when overexpressed in mammalian cells. These results suggest that DAPK3 may play a role in the induction of apoptosis. [provided by RefSeq, Jul 2008]., [RefSeq]; Death-associated protein kinase 3 regulates the myogenic reactivity of cerebral arteries., [RefSeq, PubMed]; Inhibition of DAPK3 Suppresses Radiation-Induced Cellular Senescence by Activation of a PGC1alpha-Dependent Metabolism Pathway in Brain Endothelial Cells., [RefSeq, PubMed]; Serine/threonine kinase which is involved in the regulation of apoptosis, autophagy, transcription, translation and actin cytoskeleton reorganization. Involved in the regulation of smooth muscle contraction. Regulates both type I (caspase-dependent) apoptotic and type II (caspase-independent) autophagic cell deaths signal, depending on the cellular setting. Involved in regulation of starvation-induced autophagy. Regulates myosin phosphorylation in both smooth muscle and non-muscle cells. In smooth muscle, regulates myosin either directly by phosphorylating MYL12B and MYL9 or through inhibition of smooth muscle myosin phosphatase (SMPP1M) via phosphorylation of PPP1R12A; the inhibition of SMPP1M functions to enhance muscle responsiveness to Ca(2+) and promote a contractile state. Phosphorylates MYL12B in non-muscle cells leading to reorganization of actin cytoskeleton. Isoform 2 can phosphorylate myosin, PPP1R12A and MYL12B. Overexpression leads to condensation of actin stress fibers into thick bundles. Involved in actin filament focal adhesion dynamics. The function in both reorganization of actin cytoskeleton and focal adhesion dissolution is modulated by RhoD. Positively regulates canonical Wnt/beta-catenin signaling through interaction with NLK and TCF7L2. Phosphorylates RPL13A on 'Ser-77' upon interferon-gamma activation which is causing RPL13A release from the ribosome, RPL13A association with the GAIT complex and its subsequent involvement in transcript-selective translation inhibition. Enhances transcription from AR-responsive promoters in a hormone- and kinase-dependent manner. Involved in regulation of cell cycle progression and cell proliferation. May be a tumor suppressor., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; YTHDF2 promotes gallbladder cancer progression and gemcitabine resistance via m6A-dependent DAPK3 degradation., [RefSeq, PubMed]; Zipper interacting protein kinase (ZIPK) is a negative regulator of HIV-1 replication that is restricted by viral Nef protein through proteasomal degradation., [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": 27, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 4, "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": "A0AVN4;B3KQE2;Q05JY4", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005819 spindle", "go_biological_process": "GO:0051893 regulation of focal adhesion assembly;GO:0006351 DNA-templated transcription;GO:0006468 protein phosphorylation;GO:0006940 regulation of smooth muscle contraction;GO:0010506 regulation of autophagy", "synthesized_glycan_count": 0, "hit_score": 12.8, "record_id": "O43293-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13188-1", "uniprot_id": "STK3_HUMAN", "mass": 56301.0, "length": 491, "protein_name": "Serine/threonine-protein kinase 3", "gene_name": "STK3", "organism": "Human", "refseq_name": "serine/threonine-protein kinase 3 isoform 2", "refseq_ac": "NP_001243241", "gene_names_uniprotkb": "STK3; KRS1; MST2", "gene_names_refseq": "KRS1; MST2; STK3", "protein_names_uniprotkb": "Serine/threonine-protein kinase 3; 2.7.11.1; MST-2; Mammalian STE20-like protein kinase 2; STE20-like kinase MST2; Serine/threonine-protein kinase Krs-1", "protein_names_refseq": "KB-1458E12.1; MST-2; STE20-like kinase MST2; epididymis secretory sperm binding protein; hippo homolog; mammalian STE20-like protein kinase 2; serine/threonine kinase 3 (STE20 homolog, yeast); serine/threonine kinase 3 (Ste20, yeast homolog); serine/threonine-protein kinase 3 isoform 2; serine/threonine-protein kinase 3; serine/threonine-protein kinase Krs-1", "tax_id": 9606, "disease": "neurodegenerative disease (Disease Ontology:DOID:1289); cancer (Disease Ontology:DOID:162); carcinoma (Disease Ontology:DOID:305); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:6788); (R-HSA-2028269)", "pathway_count": 2, "publication_count": 112, "publication_id_list": "11118213;11237011;11278283;12554736;15109305;15618521;15688006;16510573;16930133;17081983;17085597;17344846;17974916;18158288;18227151;18328708;18362890;18452278;18669648;18691976;19369195;19484742;19525978;19651622;19690332;20068231;20086174;20212043;20231902;20412773;20850437;20868367;21076410;21104395;21145499;21187284;21199877;21205866;21224387;21233212;21406692;21555462;21723128;21832154;22075148;22590567;23186163;23301498;23904266;23972470;24714562;24715725;24992339;25576301;25645385;25810538;26154972;26992070;27566175;27862975;28087714;28228285;28373298;28510447;28832583;28834231;29063833;29242379;29557506;29786170;30315122;30429286;30622739;31844290;32157095;32292165;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33717175;33912179;33968037;34019948;34171305;34357683;34509645;34932366;35051231;35580925;36010968;36241641;37217939;37739411;37905571;37938771;38295774;38436783;38443598;39174858;8274451;8566796;8702870;8816758;9545236", "class_list": "", "function": "Association Study between SNPs in MST1 and MST2 and H. pylori Infection as well as Noncardia Gastric Carcinogenesis., [RefSeq, PubMed]; Identification of a novel alternative splicing isoform of the Hippo kinase STK3/MST2 with impaired kinase and cell growth suppressing activities., [RefSeq, PubMed]; MST2 methylation by PRMT5 inhibits Hippo signaling and promotes pancreatic cancer progression., [RefSeq, PubMed]; STK3 kinase activation inhibits tumor proliferation through FOXO1-TP53INP1/P21 pathway in esophageal squamous cell carcinoma., [RefSeq, PubMed]; Stress-activated, pro-apoptotic kinase which, following caspase-cleavage, enters the nucleus and induces chromatin condensation followed by internucleosomal DNA fragmentation (PubMed:11278283, PubMed:8566796, PubMed:8816758). Key component of the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ (PubMed:15688006, PubMed:16930133, PubMed:23972470, PubMed:28087714, PubMed:29063833, PubMed:30622739). Phosphorylation of YAP1 by LATS2 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration (PubMed:15688006, PubMed:16930133, PubMed:23972470, PubMed:28087714). STK3/MST2 and STK4/MST1 are required to repress proliferation of mature hepatocytes, to prevent activation of facultative adult liver stem cells (oval cells), and to inhibit tumor formation. Phosphorylates NKX2-1 (By similarity). Phosphorylates NEK2 and plays a role in centrosome disjunction by regulating the localization of NEK2 to centrosome, and its ability to phosphorylate CROCC and CEP250 (PubMed:21076410, PubMed:21723128). In conjunction with SAV1, activates the transcriptional activity of ESR1 through the modulation of its phosphorylation (PubMed:21104395). Positively regulates RAF1 activation via suppression of the inhibitory phosphorylation of RAF1 on 'Ser-259' (PubMed:20212043). Phosphorylates MOBKL1A and RASSF2 (PubMed:19525978). Phosphorylates MOBKL1B on 'Thr-74'. Acts cooperatively with MOBKL1B to activate STK38 (PubMed:18328708, PubMed:18362890)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The Mst1/2-BNIP3 axis is required for mitophagy induction and neuronal viability under mitochondrial stress., [RefSeq, PubMed]; This gene encodes a serine/threonine protein kinase activated by proapoptotic molecules indicating the encoded protein functions as a growth suppressor. Cleavage of the protein product by caspase removes the inhibitory C-terminal portion. The N-terminal portion is transported to the nucleus where it homodimerizes to form the active kinase which promotes the condensation of chromatin during apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 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": 25, "reported_mutagensis": 5, "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": "A8K722;B3KYA7;Q15445;Q15801;Q96FM6", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.153;2.7.1.137;3.4.22.56;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0032991 protein-containing complex", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0035556 intracellular signal transduction;GO:0043065 positive regulation of apoptotic process;GO:0051262 protein tetramerization;GO:0090090 negative regulation of canonical Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "Q13188-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O14576-1", "uniprot_id": "DC1I1_HUMAN", "mass": 72955.0, "length": 645, "protein_name": "Cytoplasmic dynein 1 intermediate chain 1", "gene_name": "DYNC1I1", "organism": "Human", "refseq_name": "cytoplasmic dynein 1 intermediate chain 1 isoform b", "refseq_ac": "NP_001129028", "gene_names_uniprotkb": "DYNC1I1; DNCI1; DNCIC1", "gene_names_refseq": "DNCI1; DNCIC1; DYNC1I1", "protein_names_uniprotkb": "Cytoplasmic dynein 1 intermediate chain 1; Cytoplasmic dynein intermediate chain 1; DH IC-1; Dynein intermediate chain 1, cytosolic", "protein_names_refseq": "DH IC-1; cytoplasmic dynein 1 intermediate chain 1 isoform b; cytoplasmic dynein 1 intermediate chain 1; cytoplasmic dynein intermediate chain 1; dynein intermediate chain 1, cytosolic; dynein, cytoplasmic, intermediate polypeptide 1", "tax_id": 9606, "disease": "myoclonic dystonia 34 (Disease Ontology:DOID:0060957); Parkinson's disease (Disease Ontology:DOID:14330); alcohol use disorder (Disease Ontology:DOID:1574); essential tremor (Disease Ontology:DOID:4990)", "pathway": " (hsa:1780); (R-HSA-141430); (R-HSA-141444); (R-HSA-2132295); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-3371497); (R-HSA-5663220); (R-HSA-6807878); (R-HSA-6811436); (R-HSA-68877); (R-HSA-9609690); (R-HSA-9646399); (R-HSA-9648025)", "pathway_count": 14, "publication_count": 386, "publication_id_list": "10036229;10049579;10052452;10064083;10072072;10089880;10318838;10359595;10411507;10445031;10480952;10491388;10540230;10559959;10559986;10562278;10593899;10600384;10631941;10631952;10639150;10678165;10679020;10747884;10748235;10761932;10809954;10903204;10921873;10958683;11035033;11080672;11081627;11172815;11181178;11237011;11285137;11306556;11371342;11461920;11483508;11509732;11529500;11535616;11589254;11684289;11689559;11701661;11703931;11726511;11748249;11751894;11790530;11804586;11813165;11853874;12006501;12024216;12047556;12070132;12078484;12194817;12198549;12388752;12401177;12429848;12432908;12447383;12577064;12634853;12679384;12732141;12742663;12748383;12781197;12805219;12852857;12857923;12925777;13486053;14654841;14675537;14730319;14731593;14742712;1493716;15006353;15037235;15085137;15159550;15339662;15381148;15483056;15507212;15591061;15616190;15632110;15723797;15728195;15737063;15749704;15813748;15864301;15866170;15878873;15911768;15914536;15944396;16030262;16140760;16181339;16207721;16242130;16292343;1631136;16314391;16403413;16439214;16541025;16618111;16622419;16622420;16633337;16682347;16723730;1680566;16824007;16890222;16912714;16926190;16940185;16943183;17030981;17112726;17113138;17129783;17142755;17196341;17198702;17253781;17274799;17283181;17360540;1737036;17429068;17451557;17488286;17591767;17760859;17785525;17804755;17827179;17846173;17927562;17956946;18001770;18046453;18086915;18097444;18182008;18203656;18215318;18243712;18254226;18283113;18292509;18510355;18524849;18535146;18635947;18641641;18664496;18716626;18809720;18923426;1898986;19015319;19109418;19164740;19229290;19296914;19350017;19359544;1956401;19564404;1957170;19631211;19635840;19682613;19690332;19696148;19753100;19758564;19815554;19965387;20006655;20030946;20038533;20072699;20101212;20357002;20420828;20427317;20591975;20637885;21111234;21116285;21148482;21158691;21173190;21183720;2121367;21219331;21248752;21376746;21397845;21441454;21576392;21689688;21690215;21700222;21796517;21844168;21868368;21878504;2190094;21987589;22011577;22013193;22094269;22094460;22130221;22174689;22266222;22275430;22304919;22318716;22433123;22562055;22608513;22790947;22791416;22885700;23222643;23333653;23515720;23783758;23801653;23839779;2391366;24012426;24119662;24200693;24694367;24715725;24806965;24891604;24914801;25233431;25436559;25453831;25492864;25740311;25789526;26073023;26154972;26203193;26313416;26572645;27263857;27462449;27501258;27502274;27600516;27663436;27846572;28083797;28301631;28415052;28657654;28755533;28832583;28919297;29242379;29557506;30197098;30360396;30410026;30761409;31110491;31141847;31154438;31409757;31731497;31826031;31844290;32016915;32157095;32320027;32357974;32387766;32448030;32488085;32502341;32544881;32938616;32982970;32983136;33123756;33141586;33392160;34185709;34211107;34260926;34679093;35051231;35318648;35580925;36010968;36215666;37938771;38072235;6645495;6891012;7481823;7592972;7650016;7667286;7691276;8001155;8046351;8128252;8132710;8134367;8145819;8148318;8157723;8221884;8253837;8282004;8313912;8397411;8415765;8505331;8560673;8620540;8636227;8642258;8687433;8849454;8909537;8939989;8947036;8991093;9030515;9050864;9075930;9114004;9150144;9177194;9202021;9244307;9288971;9311912;9312039;9323141;9380700;9382863;9405360;9464360;9464361;9490716;9497313;9539769;9545226;9606180;9649308;9649503;9667968;9671725;9671731;9733780;9751720;9864362;9892021;9990005", "class_list": "", "function": "Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. The intermediate chains mediate the binding of dynein to dynactin via its 150 kDa component (p150-glued) DCTN1. May play a role in mediating the interaction of cytoplasmic dynein with membranous organelles and kinetochores., [UniProtKB, UniProtKB, UniProtKB]; Bioinformatics analysis identifies DYNC1I1 as prognosis marker in male patients with liver hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; DYNC1I1 acts as a promising prognostic biomarker and is correlated with immune infiltration in head and neck squamous cell 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": 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": 14, "reported_glycation": 0, "reported_snv": 24, "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": "B4DME3;F5H050;G5E9K1;Q8TBF7;Q9Y2X1", "ec_number_list": "", "go_molecular_function": "GO:0008017 microtubule binding;GO:0030507 spectrin binding;GO:0003777 microtubule motor activity;GO:0003774 cytoskeletal motor activity;GO:0045503 dynein light chain binding", "go_cellular_component": "GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005874 microtubule", "go_biological_process": "GO:0047496 vesicle transport along microtubule;GO:0010970 transport along microtubule;GO:0032388 positive regulation of intracellular transport;GO:0090267 positive regulation of mitotic cell cycle spindle assembly checkpoint;GO:0007018 microtubule-based movement", "synthesized_glycan_count": 0, "hit_score": 38.9, "record_id": "O14576-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A8MZG2-1", "uniprot_id": "CP090_HUMAN", "mass": 19564.0, "length": 182, "protein_name": "Uncharacterized protein C16orf90", "gene_name": "C16orf90", "organism": "Human", "refseq_name": "uncharacterized protein C16orf90 isoform a", "refseq_ac": "NP_001073993", "gene_names_uniprotkb": "C16orf90", "gene_names_refseq": "C16orf90", "protein_names_uniprotkb": "Uncharacterized protein C16orf90", "protein_names_refseq": "uncharacterized protein C16orf90 isoform a; uncharacterized protein C16orf90", "tax_id": 9606, "disease": "", "pathway": " (hsa:646174)", "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": 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": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A8MZG2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P98082-1", "uniprot_id": "DAB2_HUMAN", "mass": 82448.0, "length": 770, "protein_name": "Disabled homolog 2", "gene_name": "DAB2", "organism": "Human", "refseq_name": "disabled homolog 2 isoform 2", "refseq_ac": "NP_001231800", "gene_names_uniprotkb": "DAB2; DOC2", "gene_names_refseq": "DAB2; DOC-2; DOC2", "protein_names_uniprotkb": "Disabled homolog 2; Adaptor molecule disabled-2; DOC-2; Differentially expressed in ovarian carcinoma 2; Differentially-expressed protein 2", "protein_names_refseq": "DAB2, clathrin adaptor protein; Dab, mitogen-responsive phosphoprotein, homolog 2; adaptor molecule disabled-2; differentially expressed in ovarian carcinoma 2; differentially-expressed protein 2; disabled homolog 2 isoform 2; disabled homolog 2, mitogen-responsive phosphoprotein", "tax_id": 9606, "disease": "metabolic acidosis (Disease Ontology:DOID:0050758); myocardial infarction (Disease Ontology:DOID:5844)", "pathway": " (hsa:1601); (R-HSA-190873); (R-HSA-196025); (R-HSA-8856825); (R-HSA-8856828)", "pathway_count": 5, "publication_count": 294, "publication_id_list": "10097102;10340382;10436022;10535736;10542228;10542231;10559856;10559861;10559924;10567358;10613896;10625686;10766823;10769163;10983987;11071885;11076969;11082044;11161789;11231140;11237011;11239472;11247302;11371563;11387212;11454741;11470803;11516654;11517213;11532990;11577110;11588219;11877457;11877461;11889126;11919637;11927540;11967127;11988742;12057195;12086608;12213833;12221107;12234931;12429842;12447393;12451172;12464600;12717448;12805222;12847086;12944396;12952949;12958364;1317852;14555962;14581451;14596919;14617351;14622578;14622579;14662753;14726597;15134832;15252009;15260957;15280374;15302935;15318165;15339664;1535555;15473838;15502812;15502813;15649145;15671180;15703209;15728179;15802264;15895077;15916959;16103228;16159959;16215232;16267015;16326391;16410077;16459302;16460808;16516836;16707488;16723738;16798879;16880396;16903783;16964243;16984970;17018281;17035995;17081983;17108328;17158794;17267500;17322306;17360967;17456551;17494869;17512409;17522231;17540576;17609109;17681954;17713526;17762867;17765681;17978091;18032517;18093523;18166656;18199683;18212344;18388313;1847920;18491316;18669648;18767875;18775314;18790740;18819912;18981233;19092055;19140243;19287005;19296720;19306879;19458185;19536138;19575674;19603039;19651622;19664994;1968060;19696796;19696798;19713939;19732400;19776351;19809571;19853559;20033059;20059951;20068231;20211604;20231386;20351096;20428113;20448150;20826345;20946875;21097498;21102408;2115402;21187331;21278753;21316588;21445324;21482805;21499258;21613550;21779028;21841790;21883765;21927000;21927001;21962517;21995445;22099461;22118466;22233676;22323290;22357968;22484487;22491013;22505844;2257624;22815487;22863004;22942912;23186163;23297414;23536704;23823722;23861397;23891661;24130457;24186068;24275569;24384571;24581490;24680432;24746795;24789820;24966051;25107275;25253241;25303366;25341920;25645385;26042225;26403691;26768311;26829388;27600516;27862975;28228285;28832583;28876503;2890644;29237092;29242379;29393594;29557506;29786170;29789417;30059200;30379171;30429286;30484775;30620550;30833945;31154438;31222486;31373491;31492838;31844290;31848261;32157095;32161166;32387766;32488085;32938616;32983136;33043033;33123756;33214551;33557943;33592498;33968037;33981976;34019948;3417785;34211107;34509645;34725712;34846842;35051231;35254053;35289036;35513511;35580925;36010968;36215666;36241641;36284347;36614139;37361044;37541260;37815603;37938771;38665916;39531497;39534244;41518202;6146630;7569928;7822302;7877694;8314147;8524399;8552632;8553074;8660969;8837779;9092476;9100026;9169477;9303539;9427626;9428629;9620555;9635431;9723620;9736607;9812899", "class_list": "", "function": "Adapter protein that functions as a clathrin-associated sorting protein (CLASP) required for clathrin-mediated endocytosis of selected cargo proteins. Can bind and assemble clathrin, and binds simultaneously to phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and cargos containing non-phosphorylated NPXY internalization motifs, such as the LDL receptor, to recruit them to clathrin-coated pits. Can function in clathrin-mediated endocytosis independently of the AP-2 complex. Involved in endocytosis of integrin beta-1; this function seems to redundant with the AP-2 complex and seems to require DAB2 binding to endocytosis accessory EH domain-containing proteins such as EPS15, EPS15L1 and ITSN1. Involved in endocytosis of cystic fibrosis transmembrane conductance regulator/CFTR. Involved in endocytosis of megalin/LRP2 lipoprotein receptor during embryonal development. Required for recycling of the TGF-beta receptor. Involved in CFTR trafficking to the late endosome. Involved in several receptor-mediated signaling pathways. Involved in TGF-beta receptor signaling and facilitates phosphorylation of the signal transducer SMAD2. Mediates TFG-beta-stimulated JNK activation. May inhibit the canoniocal Wnt/beta-catenin signaling pathway by stabilizing the beta-catenin destruction complex through a competing association with axin preventing its dephosphorylation through protein phosphatase 1 (PP1). Sequesters LRP6 towards clathrin-mediated endocytosis, leading to inhibition of Wnt/beta-catenin signaling. May activate non-canonical Wnt signaling. In cell surface growth factor/Ras signaling pathways proposed to inhibit ERK activation by interrupting the binding of GRB2 to SOS1 and to inhibit SRC by preventing its activating phosphorylation at 'Tyr-419'. Proposed to be involved in modulation of androgen receptor (AR) signaling mediated by SRC activation; seems to compete with AR for interaction with SRC. Plays a role in the CSF-1 signal transduction pathway. Plays a role in cellular differentiation. Involved in cell positioning and formation of visceral endoderm (VE) during embryogenesis and proposed to be required in the VE to respond to Nodal signaling coming from the epiblast. Required for the epithelial to mesenchymal transition, a process necessary for proper embryonic development. May be involved in myeloid cell differentiation and can induce macrophage adhesion and spreading. May act as a tumor suppressor., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Disabled-2 (DAB2): A Key Regulator of Anti- and Pro-Tumorigenic Pathways. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Disabled-2: a protein up-regulated by high molecular weight hyaluronan has both tumor promoting and tumor suppressor roles in ovarian cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic polymorphism of the Dab2 gene and its association with Type 2 Diabetes Mellitus in the Chinese Uyghur population. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a mitogen-responsive phosphoprotein. It is expressed in normal ovarian epithelial cells, but is down-regulated or absent from ovarian carcinoma cell lines, suggesting its role as a tumor suppressor. This protein binds to the SH3 domains of GRB2, an adaptor protein that couples tyrosine kinase receptors to SOS (a guanine nucleotide exchange factor for Ras), via its C-terminal proline-rich sequences, and may thus modulate growth factor/Ras pathways by competing with SOS for binding to GRB2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]., [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": 16, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 16, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 16, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 27, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 53, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 18, "binding_glycan_count": 0, "secondary_ac_list": "A6NES5;Q13598;Q9BTY0;Q9UK04", "ec_number_list": "", "go_molecular_function": "GO:0050750 low-density lipoprotein particle receptor binding;GO:0046332 SMAD binding;GO:0035615 clathrin adaptor activity;GO:0038024 cargo receptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005905 clathrin-coated pit;GO:0005925 focal adhesion", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0015031 protein transport;GO:0030335 positive regulation of cell migration;GO:0043066 negative regulation of apoptotic process;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 31.2, "record_id": "P98082-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q14118-1", "uniprot_id": "DAG1_HUMAN", "mass": 97441.0, "length": 895, "protein_name": "Dystroglycan 1", "gene_name": "DAG1", "organism": "Human", "refseq_name": "dystroglycan 1 preproprotein", "refseq_ac": "NP_001159400", "gene_names_uniprotkb": "DAG1", "gene_names_refseq": "156DAG; A3a; AGRNR; DAG1; DAG; LGMDR16; MDDGA9; MDDGC7; MDDGC9", "protein_names_uniprotkb": "Dystroglycan 1; Dystroglycan; Dystrophin-associated glycoprotein 1", "protein_names_refseq": "dystroglycan 1 (dystrophin-associated glycoprotein 1); dystroglycan 1 preproprotein", "tax_id": 9606, "disease": "lissencephaly (Disease Ontology:DOID:0050453); Fukuyama congenital muscular dystrophy (Disease Ontology:DOID:0050559); muscular dystrophy-dystroglycanopathy type B1 (Disease Ontology:DOID:0050588); atrioventricular septal defect (Disease Ontology:DOID:0050651); colorectal adenocarcinoma (Disease Ontology:DOID:0050861); atrial heart septal defect 9 (Disease Ontology:DOID:0110114); autosomal recessive limb-girdle muscular dystrophy type 2D (Disease Ontology:DOID:0110278); autosomal recessive limb-girdle muscular dystrophy type 2P (Disease Ontology:DOID:0110293); congenital muscular dystrophy-dystroglycanopathy type A9 (Disease Ontology:DOID:0111232); pancreatic hypoplasia-diabetes-congenital heart disease syndrome (Disease Ontology:DOID:0111733); muscular dystrophy-dystroglycanopathy (Disease Ontology:DOID:0112374); bronchopulmonary dysplasia (Disease Ontology:DOID:11650); Duchenne muscular dystrophy (Disease Ontology:DOID:11723); primary biliary cholangitis (Disease Ontology:DOID:12236); dilated cardiomyopathy (Disease Ontology:DOID:12930); ventricular septal defect (Disease Ontology:DOID:1657); congenital heart disease (Disease Ontology:DOID:1682); inclusion body myositis (Disease Ontology:DOID:3429); congenital diaphragmatic hernia (Disease Ontology:DOID:3827); Klatskin's tumor (Disease Ontology:DOID:4927); myocardial infarction (Disease Ontology:DOID:5844); tetralogy of Fallot (Disease Ontology:DOID:6419); pulmonary hypertension (Disease Ontology:DOID:6432); muscular atrophy (Disease Ontology:DOID:767); Barrett's esophagus (Disease Ontology:DOID:9206); type 2 diabetes mellitus (Disease Ontology:DOID:9352); muscular dystrophy (Disease Ontology:DOID:9884)", "pathway": " (hsa:1605); (R-HSA-3000171); (R-HSA-3000178); (R-HSA-5083628); (R-HSA-5083629); (R-HSA-5083633); (R-HSA-8932504); (R-HSA-8932505); (R-HSA-8932506); (R-HSA-9010553); (R-HSA-9619665); (R-HSA-9913351); (R-HSA-9939291)", "pathway_count": 13, "publication_count": 322, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10022829;10189375;10203854;10220111;10339611;10400691;10441321;10545507;10545611;10673326;10727776;10757804;10767429;10769203;10856243;10893187;10932245;10942431;10988290;11084047;11115854;11133365;11157804;11237011;11259413;11352924;11356866;11394999;11420143;11430795;11430802;11495720;11592034;11709191;11724572;11734543;11741828;11782409;11847221;12056842;12140558;12145339;12189167;12198163;12225811;12369018;12588800;12592373;12782656;12795607;12799134;12941944;12966029;1319059;1376317;14512514;14522948;14627679;14664827;14678799;14699049;14715956;14724282;15075323;15121789;15150276;15175026;15189448;15296743;15356632;1544908;15610069;15695336;15792865;15836632;15894594;15907797;16136673;16254364;16293224;16311519;16319321;16373334;16493581;16524571;16575835;16806867;16923174;17030669;17034757;1704008;17044012;17212656;17325040;17360738;17588949;17699610;17878207;17905726;17959798;18195152;18634568;18764929;18803322;19138766;19143832;19156870;19299310;19321787;19324387;19346169;19587235;19706539;19745155;1975954;19838169;19922439;19946898;20044576;20112406;20149798;20213556;20507882;20512930;2059554;20625412;20832498;21044070;21326363;21388311;21411665;21423190;21423191;21613327;21642437;21653862;21789315;21987822;22053691;22134916;22159078;22172424;22180461;22205389;22223806;22333914;22492709;22522420;22764250;22814607;22958903;23090970;23125099;23186163;23217329;23217742;23234360;23301498;23329833;23359570;23390185;23453667;23584533;2364322;23695165;23723439;23746841;23747866;23874858;23929950;24052401;2412224;24190977;24191038;2420006;24227709;24256719;24275569;2430969;24646194;24675079;24925318;25242263;25279697;25279699;25418920;25502872;25503980;25813380;25934851;25974668;26154972;26290588;26423937;26441514;26687144;26848865;26923585;27066570;27130732;27220739;27288457;27493216;27733679;27859941;27909055;28467828;28514659;28781947;28832583;28852375;29242379;29314611;29393594;29477842;29557506;29632046;29741879;29748249;29774024;29786170;29789417;30379171;30429286;30459171;30573663;30626607;31020640;31054580;31492838;31611695;31844290;31848261;31949166;32149355;32157095;32265295;32350084;32387766;32824881;3282674;32897882;32938616;32983136;33214551;33392160;33513091;33566255;33592498;33968037;33981976;34015330;34019948;34087483;34171305;34357683;34932366;35051231;35154160;35251023;35513511;35580925;36215666;36241641;37074911;38177406;38665916;40596516;6193777;6439184;7499434;7527058;7527495;7542669;7547961;7559467;7592992;7685013;7693733;7844150;7852349;7925941;7935840;8002934;8043271;8138712;8268918;8349731;8440685;8576247;8607994;8619637;8627307;8647822;8662541;8798547;8798654;8842374;8845841;8943283;9214383;9252349;9294172;9341124;9346959;9405466;9412493;9418958;9482253;9652404;9659899;9659900;9685393;9705348;9748295;9851927;9858769;9864373;9949188", "class_list": "glycogene", "function": "(Microbial infection) Acts as a receptor for lassa virus and lymphocytic choriomeningitis virus glycoprotein and class C new-world arenaviruses (PubMed:16254364, PubMed:17360738, PubMed:19324387). Acts as a Schwann cell receptor for Mycobacterium leprae, the causative organism of leprosy, but only in the presence of the G-domain of LAMA2 (PubMed:9851927)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia., [RefSeq, PubMed]; Extracellular peripheral glycoprotein that acts as a receptor for extracellular matrix proteins containing laminin-G domains. As a receptor for laminin is involved in extracellular matrix assembly, and activation of the PI3K/AKT pathway regulating cell apoptotic signals in muscle (By similarity). Binding of laminin LAMA1 to alpha-dystroglycan also initiates a signaling cascade in which Src kinases, c-Src or c-Fyn, phosphorylate syntrophin modifying its interaction with the adapter protein GRB2; this triggers recruitment of guanyl-nucleotide exchange factor SOS1 and activation of RAC1, finally resulting in c-Jun phosphorylation by MAPK8/JNK1 (By similarity). As a receptor for laminin LAMA1 is also involved in epithelium branching morphogenesis in salivary glang and lung (By similarity). Receptor for laminin-2 (LAMA2) and agrin in peripheral nerve Schwann cells (By similarity). Also acts as a receptor for laminin LAMA5 (By similarity). In muscle cells, it is a receptor for laminin-1 (also known as laminin-111 or EHS laminin) and is involved in the stimulation of agrin-induced acetylcholine receptor (AChR) clustering, and formation of the synaptic basement membrane. It is required for acetylcholinesterase (AChE) localization at the neuromuscular junctions (NMJ) through its binding with perlecan (HSPG2) and is, therefore, involved in the down-regulation of colinergic synaptic transmission (By similarity). In the retina, it is required for the formation of photoreceptor ribbon synapses through its interaction with pikachurin (EGFLAM) (By similarity). Involved in the positive regulation of cartilage formation through agrin (AGRN) binding and up-regulation of SOX9, a transcription factor that plays a key role in chondrocytes differentiation (PubMed:26290588)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed]; Findings demonstrate that a lack of matriglycan on alpha-dystroglycan is a common feature in rhabdomyosarcoma due to the downregulation of LARGE1, and that ectopic expression of LARGE1 can restore matriglycan modifications and the ability of alpha-dystroglycan to function as an extracellular matrix receptor Publication Status: Online-Only, [RefSeq, PubMed]; NAD+ enhances ribitol and ribose rescue of alpha-dystroglycan functional glycosylation in human FKRP-mutant myotubes. Publication Status: Online-Only, [RefSeq, PubMed]; The Association Between beta-Dystroglycan in Airway Smooth Muscle and Eosinophils in Allergic Asthma., [RefSeq, PubMed]; The Molecular Basis and Biologic Significance of the beta-Dystroglycan-Emerin Interaction. Publication Status: Online-Only, [RefSeq, PubMed]; The dystroglycan complex is involved in a number of signaling events and processes including laminin deposition and extracellular matrix assembly, acetylcholine receptor clustering, sarcolemmal stability, cell survival, peripheral nerve myelination, nodal structure, cell migration, epithelial polarization, and epithelium branching morphogenesis (By similarity). Required for the formation of photoreceptor ribbon synapses, and long-term maintenance of inhibitory synapses in cerebellar Purkinje cells (By similarity). Also involved in the positive regulation of cartilage formation through agrin (AGRN) binding and up-regulation of SOX9, a transcription factor that plays a key role in chondrocytes differentiation (PubMed:26290588)., [UniProtKB, UniProtKB, PubMed]; This gene encodes dystroglycan, a central component of dystrophin-glycoprotein complex that links the extracellular matrix and the cytoskeleton in the skeletal muscle. The encoded preproprotein undergoes O- and N-glycosylation, and proteolytic processing to generate alpha and beta subunits. Certain mutations in this gene are known to cause distinct forms of muscular dystrophy. Alternative splicing results in multiple transcript variants, all encoding the same protein. [provided by RefSeq, Nov 2015]., [RefSeq]; Transmembrane protein that plays important roles in connecting the extracellular matrix to the cytoskeleton. Acts as a cell adhesion receptor in both muscle and non-muscle tissues. Receptor for both DMD and UTRN and, through these interactions, scaffolds axin to the cytoskeleton. Also functions in cell adhesion-mediated signaling and implicated in cell polarity., [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": 4, "reported_o_glycosites": 15, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 51, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 58, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 58, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 3, "reported_phosphosites": 3, "reported_mutagensis": 20, "reported_glycation": 0, "reported_snv": 1124, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 23, "disease_count": 27, "glyco_site_count": 63, "binding_glycan_count": 0, "secondary_ac_list": "A8K6M7;Q969J9", "ec_number_list": "", "go_molecular_function": "GO:0003779 actin binding;GO:0004252 serine-type endopeptidase activity;GO:0042802 identical protein binding;GO:0043395 heparan sulfate proteoglycan binding;GO:0051393 alpha-actinin binding", "go_cellular_component": "GO:0016010 dystrophin-associated glycoprotein complex;GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0000139 Golgi membrane;GO:0005576 extracellular region", "go_biological_process": "GO:0043403 skeletal muscle tissue regeneration;GO:0098942 retrograde trans-synaptic signaling by trans-synaptic protein complex;GO:0085029 extracellular matrix assembly;GO:1904395 positive regulation of skeletal muscle acetylcholine-gated channel clustering;GO:0006509 membrane protein ectodomain proteolysis", "synthesized_glycan_count": 0, "hit_score": 40.8, "record_id": "Q14118-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NR63-1", "uniprot_id": "CP26B_HUMAN", "mass": 57513.0, "length": 512, "protein_name": "Cytochrome P450 26B1", "gene_name": "CYP26B1", "organism": "Human", "refseq_name": "cytochrome P450 26B1 isoform 2", "refseq_ac": "NP_001264671", "gene_names_uniprotkb": "CYP26B1; CYP26A2; P450RAI2", "gene_names_refseq": "CYP26A2; CYP26B1; P450RAI-2; P450RAI2; RHFCA", "protein_names_uniprotkb": "Cytochrome P450 26B1; 1.14.13.-; Cytochrome P450 26A2; Cytochrome P450 retinoic acid-inactivating 2; Cytochrome P450RAI-2; Retinoic acid-metabolizing cytochrome", "protein_names_refseq": "cytochrome P450 26B1 isoform 2; cytochrome P450 26B1; cytochrome P450 family 26 subfamily A member 1; cytochrome P450 retinoic acid-inactivating 2; cytochrome P450 retinoid metabolizing protein; cytochrome P450, family 26, subfamily B, polypeptide 1; cytochrome P450, subfamily XXVIB, polypeptide 1; retinoic acid-metabolizing cytochrome", "tax_id": 9606, "disease": "osteochondrodysplasia (Disease Ontology:DOID:2256); craniosynostosis (Disease Ontology:DOID:2340); hepatocellular carcinoma (Disease Ontology:DOID:684); lethal occipital encephalocele-skeletal dysplasia syndrome (MONDO:MONDO:0013740)", "pathway": " (hsa:56603); (R-HSA-211916); (R-HSA-5365859); (R-HSA-5579015)", "pathway_count": 4, "publication_count": 56, "publication_id_list": "10329026;10369264;10823918;10839978;11007799;11012668;11237011;11245473;11744378;12036956;12101034;12226107;12680773;14532297;14596915;17646648;18039331;18805086;1889753;20801113;21529158;21621639;21851338;22019272;22020119;22666329;23220587;23783831;26937021;27862975;28904123;2935875;29393594;29557506;29786170;3013304;30833945;31154438;31848261;33968037;34171305;35051231;35580925;36010968;36241641;36769350;37042568;37100236;37755482;37938771;8493914;8679605;9228021;9677409;9705317;9716180", "class_list": "", "function": "A Functional Polymorphism Downstream of Vitamin A Regulator Gene CYP26B1 Is Associated with Hand Osteoarthritis. Publication Status: Online-Only, [RefSeq, PubMed]; A cytochrome P450 monooxygenase involved in the metabolism of retinoates (RAs), the active metabolites of vitamin A, and critical signaling molecules in animals (PubMed:10823918, PubMed:22020119). 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:10823918). Hydroxylation of atRA limits its biological activity and initiates a degradative process leading to its eventual elimination (PubMed:10823918, PubMed:22020119). Involved in the convertion of atRA to all-trans-4-oxo-RA. 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). Shows preference for the following substrates: atRA > 9-cis-RA > 13-cis-RA (PubMed:10823918, PubMed:22020119). Plays a central role in germ cell development: acts by degrading RAs in the developing testis, preventing STRA8 expression, thereby leading to delay of meiosis. Required for the maintenance of the undifferentiated state of male germ cells during embryonic development in Sertoli cells, inducing arrest in G0 phase of the cell cycle and preventing meiotic entry. Plays a role in skeletal development, both at the level of patterning and in the ossification of bone and the establishment of some synovial joints (PubMed:22019272). Essential for postnatal survival (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; A variant in CYP26B1 associated with esophageal squamous cell carcinoma risk by affecting retinoic acid metabolism., [RefSeq, PubMed]; Also has a significant activity in oxidation of tazarotenic acid and may therefore metabolize that xenobiotic in vivo., [UniProtKB, PubMed]; CYP26B1 mRNA levels were approximately twice the level in adult cerebellum compared to adult whole brain samples. CYP26B1 levels were 10x higher in earlier gestational times than in later gestational times., [RefSeq, PubMed]; CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence., [RefSeq, PubMed]; Familial monoallelic CYP26B1 truncating variant causes a syndromic craniosynostosis due to haploinsufficiency ?, [RefSeq, PubMed]; Mouse studies identified different expression patterns of the retinoic acid-metabolizing enzymes CYP26A1 and CYP26B1 during development., [RefSeq, PubMed]; This gene encodes a member of the cytochrome P450 superfamily. 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 is localized to the endoplasmic reticulum, and functions as a critical regulator of all-trans retinoic acid levels by the specific inactivation of all-trans retinoic acid to hydroxylated forms. Mutations in this gene are associated with radiohumeral fusions and other skeletal and craniofacial anomalies, and increased levels of the encoded protein are associated with atherosclerotic lesions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]., [RefSeq]; Vascular cells express the spliced variant of CYP26B1 lacking exon 2 and it is also increased in atherosclerotic lesions, [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": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R8M7;B7Z2K6;B7Z2P4;B7Z3B8;E4W5W7;Q32MC0;Q53TW1;Q9NP41", "ec_number_list": "1.14.13.-;1.14.14.1;1.14.14.55;1.14.14.56;1.14.14.73;1.14.14.-;4.2.1.152;5.3.99.5", "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:0005737 cytoplasm;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006766 vitamin metabolic process;GO:0007283 spermatogenesis;GO:0010628 positive regulation of gene expression;GO:0071300 cellular response to retinoic acid;GO:0001822 kidney development", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q9NR63-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95786-1", "uniprot_id": "RIGI_HUMAN", "mass": 106600.0, "length": 925, "protein_name": "Antiviral innate immune response receptor RIG-I", "gene_name": "DDX58; RIGI", "organism": "Human", "refseq_name": "antiviral innate immune response receptor RIG-I isoform 1", "refseq_ac": "NP_055129", "gene_names_uniprotkb": "DDX58; RIGI; DDX58", "gene_names_refseq": "DDX58; RIG-I; RIG1; RIGI; RLR-1; SGMRT2", "protein_names_uniprotkb": "Antiviral innate immune response receptor RIG-I; 3.6.4.13; ATP-dependent RNA helicase DDX58; DEAD box protein 58; RIG-1; RIG-I-like receptor 1; RIG-I; RLR-1; RNA sensor RIG-I; Retinoic acid-inducible gene 1 protein; Retinoic acid-inducible gene I protein", "protein_names_refseq": "DEAD (Asp-Glu-Ala-Asp) box polypeptide 58; DEAD box protein 58; DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide; DExD/H-box helicase 58; RNA helicase RIG-I; antiviral innate immune response receptor RIG-I isoform 1; antiviral innate immune response receptor RIG-I; probable ATP-dependent RNA helicase DDX58; retinoic acid-inducible gene 1 protein; retinoic acid-inducible gene I protein", "tax_id": 9606, "disease": "Fanconi anemia (Disease Ontology:DOID:13636); Singleton-Merten syndrome 2 (MONDO:MONDO:0014575)", "pathway": " (hsa:23586); (R-HSA-1169408); (R-HSA-168928); (R-HSA-5689880); (R-HSA-5689896); (R-HSA-8983711); (R-HSA-918233); (R-HSA-933541); (R-HSA-933542); (R-HSA-933543); (R-HSA-936440); (R-HSA-9692916); (R-HSA-9705671); (R-HSA-9833109); (R-HSA-9833110); (R-HSA-9909505)", "pathway_count": 16, "publication_count": 416, "publication_id_list": "10082512;10385526;10421793;10444327;10464285;10581243;10982817;11002417;11073981;11095724;11112487;11157743;11237011;11244049;11265282;11463333;11566882;11607032;11717445;11788588;11890704;11923872;11980899;11986302;12019269;12107169;12133833;12221085;12525615;12582176;12604599;12692549;12759408;12884866;12917689;12917691;14661020;14703513;14976261;15053880;15131269;15181474;15208624;15219805;15231837;15258597;15334086;15361868;15485925;15702989;15708988;15916963;16009940;16112642;16122702;16125763;16127453;16139798;16153868;16214042;16281057;16306936;16352599;16394098;16407192;16428300;16585540;16618810;16699525;16715065;16775314;16815975;16846591;16858409;16872604;16901786;16914094;16914100;16964248;17035307;17190786;17190814;17251292;17270291;17289916;17290220;17327220;17376915;17392790;17412287;17443180;17460044;17526488;17596301;17600090;17761676;17873522;17980597;17981138;17991829;18057259;18172164;18200010;18242112;18243112;18287095;18305167;18307765;18420935;18467330;18583345;18591409;18632802;18636086;18724357;18761323;18991276;19015242;19017631;19073728;19122199;19125153;19135894;19188362;19193793;19211564;19270716;19363159;19380580;19383985;19398035;19398555;19419966;19424180;19464428;19479062;19484123;19531363;19576794;19608861;19609254;19631370;19666475;19668221;19818707;19838211;19874889;19881509;19893624;19910467;19996094;20007272;20043992;20071582;20096447;20127681;20133869;20219937;20228808;20304918;20308324;20368735;20385878;20403326;20406818;20410276;20434986;20501646;20553488;20627800;20628368;20950133;21068236;21102435;21175414;21233210;21239494;21362556;21571647;21596315;21616437;21632562;21659512;21742966;21791617;21813773;21849505;21884169;21962518;22029577;22046132;22085928;22090124;22114345;22124327;22128162;22152002;22216260;22253733;22301138;22312431;22383950;22607805;22619329;22941947;23084743;23159851;23319625;23395819;23399697;23453971;23483519;23486064;23499489;23824326;23825189;23827681;23843640;23950712;24056413;24260525;24366338;24366607;24390337;24478431;24493797;24500209;24509444;24578532;24610782;24622840;24722368;24755855;24854014;24896179;24931123;25018021;25135833;25197364;25228397;25275129;25305019;25352621;25540362;25576301;25578727;25620203;25764917;25775560;25854864;25880248;25892109;25892735;25904330;25907116;26055709;26101251;26280536;26320399;26378163;26471729;26746851;26760998;26858407;26992070;27164085;27203180;27312109;27600516;27824081;27846572;27866900;27920218;28148787;28228285;28467828;28469175;28832583;28834231;29117565;29242379;29288164;29294448;29331515;29351928;29557506;29632711;29769354;29786170;30169894;30185776;30193849;30224801;30315122;30379171;30484775;30558248;30779550;30833945;31006531;31034780;31154438;31231549;31434731;31455651;31844290;31848261;31850239;31881323;31998317;32027733;32157095;32161166;32350084;32353859;32357974;32387766;32428392;32488085;32502341;32589897;32715615;32726803;32728199;32938616;32953130;32979938;32983136;33024073;33060197;33097660;33110251;33123756;33141586;33298915;33349665;33360543;33372174;33372854;33396605;33440148;33479219;33495715;3350819;33514628;33567255;33592498;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33912179;33936100;33963333;33968037;33981976;33989516;33990585;34021074;34054808;34084167;34087483;34110168;34166398;34171305;34239064;34290717;34341353;34375313;34400613;34439781;34452305;34471099;34502139;34509645;34597346;34932366;34935440;35051231;35102342;35263596;35318648;35494241;35580925;35643212;36010968;36102648;36215666;36241641;36284347;36793726;37051252;38673764;38752537;38884803;39037956;40914422;6190010;7539425;7559393;7578059;9008162;9407111;9463386;9525617;9541017;9660935;9689078;9822609;9847332;9880569;9989503", "class_list": "", "function": "Activation of the RIG-I/MAVS Signaling Pathway during Human Adenovirus Type 3 Infection Impairs the Pro-Inflammatory Response Induced by Secondary Infection with Staphylococcus aureus. Publication Status: Online-Only, [RefSeq, PubMed]; DDX58 variant triggers IFN-beta-induced autophagy in trabecular meshwork and influences intraocular pressure., [RefSeq, PubMed]; DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases which are implicated in a number of cellular processes involving RNA binding and alteration of RNA secondary structure. This gene encodes a protein containing RNA helicase-DEAD box protein motifs and a caspase recruitment domain (CARD). It is involved in viral double-stranded (ds) RNA recognition and the regulation of the antiviral innate immune response. Mutations in this gene are associated with Singleton-Merten syndrome 2. [provided by RefSeq, Aug 2020]., [RefSeq]; IFN-gamma induces the expression of RIG-I, which may play a role in the immunological effects of IFN-gamma, [RefSeq, PubMed]; Innate immune receptor that senses cytoplasmic viral nucleic acids and activates a downstream signaling cascade leading to the production of type I interferons and pro-inflammatory cytokines (PubMed:15208624, PubMed:15708988, PubMed:16125763, PubMed:16127453, PubMed:16153868, PubMed:17190814, PubMed:18636086, PubMed:19122199, PubMed:19211564, PubMed:24366338, PubMed:28469175, PubMed:29117565, PubMed:31006531, PubMed:34935440, PubMed:35263596, PubMed:36793726). Forms a ribonucleoprotein complex with viral RNAs on which it homooligomerizes to form filaments (PubMed:15208624, PubMed:15708988). The homooligomerization allows the recruitment of RNF135 an E3 ubiquitin-protein ligase that activates and amplifies the RIG-I-mediated antiviral signaling in an RNA length-dependent manner through ubiquitination-dependent and -independent mechanisms (PubMed:28469175, PubMed:31006531). Upon activation, associates with mitochondria antiviral signaling protein (MAVS/IPS1) that activates the IKK-related kinases TBK1 and IKBKE which in turn phosphorylate the interferon regulatory factors IRF3 and IRF7, activating transcription of antiviral immunological genes including the IFN-alpha and IFN-beta interferons (PubMed:28469175, PubMed:31006531). Ligands include 5'-triphosphorylated ssRNAs and dsRNAs but also short dsRNAs (<1 kb in length) (PubMed:15208624, PubMed:15708988, PubMed:19576794, PubMed:19609254, PubMed:21742966). In addition to the 5'-triphosphate moiety, blunt-end base pairing at the 5'-end of the RNA is very essential (PubMed:15208624, PubMed:15708988, PubMed:19576794, PubMed:19609254, PubMed:21742966). Overhangs at the non-triphosphorylated end of the dsRNA RNA have no major impact on its activity (PubMed:15208624, PubMed:15708988, PubMed:19576794, PubMed:19609254, PubMed:21742966). A 3'overhang at the 5'triphosphate end decreases and any 5'overhang at the 5' triphosphate end abolishes its activity (PubMed:15208624, PubMed:15708988, PubMed:19576794, PubMed:19609254, PubMed:21742966). Detects both positive and negative strand RNA viruses including members of the families Paramyxoviridae: Human respiratory syncytial virus and measles virus (MeV), Rhabdoviridae: vesicular stomatitis virus (VSV), Orthomyxoviridae: influenza A and B virus, Flaviviridae: Japanese encephalitis virus (JEV), hepatitis C virus (HCV), dengue virus (DENV) and west Nile virus (WNV) (PubMed:21616437, PubMed:21884169). It also detects rotaviruses and reoviruses (PubMed:21616437, PubMed:21884169). Detects and binds to SARS-CoV-2 RNAs which is inhibited by m6A RNA modifications (Ref.74). Also involved in antiviral signaling in response to viruses containing a dsDNA genome such as Epstein-Barr virus (EBV) (PubMed:19631370). Detects dsRNA produced from non-self dsDNA by RNA polymerase III, such as Epstein-Barr virus-encoded RNAs (EBERs). May play important roles in granulocyte production and differentiation, bacterial phagocytosis and in the regulation of cell migration., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Proofreading mechanisms of the innate immune receptor RIG-I: distinguishing self and viral RNA. Review article, [RefSeq, PubMed]; The RNA helicase DHX35 functions as a co-sensor for RIG-I-mediated innate immunity. 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": 11, "reported_mutagensis": 25, "reported_glycation": 0, "reported_snv": 16, "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": "A2RU81;Q5HYE1;Q5VYT1;Q9NT04", "ec_number_list": "5.6.2.4;3.4.19.12;3.6.1.-;3.6.4.-;3.6.4.13;2.7.11.10;2.7.11.1;2.3.2.23;3.6.4.6;3.6.1.5;2.7.7.7;2.7.7.49;3.6.4.10;3.1.3.1;3.9.1.1;4.2.99.18;5.6.1.6;5.6.2.3;3.1.4.11;2.7.10.2;3.6.4.12;2.7.11.24;3.1.3.48;3.4.21.53;5.6.2.5;6.2.1.-;3.1.-.-;2.3.2.24;3.6.5.-;7.6.2.1;2.3.2.27;2.7.11.25;6.3.2.n3;3.4.22.61;7.2.2.-;5.6.2.-;2.3.2.-;3.6.1.15;3.1.4.-;3.4.22.63;3.6.-.-;2.3.2.26;3.4.24.-;3.1.13.1;5.6.2.6;3.4.-.-;3.4.26.1;2.7.4.3;2.3.2.31", "go_molecular_function": "GO:0005524 ATP binding;GO:0005525 GTP binding;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005923 bicellular tight junction;GO:0015629 actin cytoskeleton", "go_biological_process": "GO:0071360 cellular response to exogenous dsRNA;GO:0032727 positive regulation of interferon-alpha production;GO:0060760 positive regulation of response to cytokine stimulus;GO:0010628 positive regulation of gene expression;GO:0045087 innate immune response", "synthesized_glycan_count": 0, "hit_score": 42.0, "record_id": "O95786-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60443-1", "uniprot_id": "GSDME_HUMAN", "mass": 54555.0, "length": 496, "protein_name": "Gasdermin-E", "gene_name": "GSDME", "organism": "Human", "refseq_name": "gasdermin-E isoform a", "refseq_ac": "NP_001120925", "gene_names_uniprotkb": "GSDME; DFNA5; ICERE1", "gene_names_refseq": "DFNA5; GSDME; ICERE-1", "protein_names_uniprotkb": "Gasdermin-E; ICERE-1; Inversely correlated with estrogen receptor expression 1; Non-syndromic hearing impairment protein 5", "protein_names_refseq": "DFNA5, deafness associated tumor suppressor; gasdermin-E isoform a; inversely correlated with estrogen receptor expression 1; non-syndromic hearing impairment protein 5; nonsyndromic hearing impairment protein", "tax_id": 9606, "disease": "maturity-onset diabetes of the young (Disease Ontology:DOID:0050524); Fanconi renotubular syndrome 4 (Disease Ontology:DOID:0080760); autosomal dominant nonsyndromic deafness 5 (Disease Ontology:DOID:0110575); maturity-onset diabetes of the young type 1 (Disease Ontology:DOID:0111099); sensorineural hearing loss (Disease Ontology:DOID:10003); Fanconi syndrome (Disease Ontology:DOID:1062); familial combined hyperlipidemia (Disease Ontology:DOID:13809); alcohol use disorder (Disease Ontology:DOID:1574); glaucoma (Disease Ontology:DOID:1686); lung adenocarcinoma (Disease Ontology:DOID:3910); liver cirrhosis (Disease Ontology:DOID:5082); hepatocellular carcinoma (Disease Ontology:DOID:684); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970); hypoglycemia (Disease Ontology:DOID:9993)", "pathway": " (hsa:1687); (R-HSA-111457); (R-HSA-111458); (R-HSA-111461); (R-HSA-5620971); (R-HSA-5686938); (R-HSA-9710421)", "pathway_count": 7, "publication_count": 130, "publication_id_list": "10972280;11237011;11509636;11724772;11734640;12110890;12214235;12660240;12817025;12941691;16213021;16754682;16834340;16855214;16878026;16897187;17724022;17767165;18223688;18346456;18354232;18559343;18990700;18991276;19112167;19859801;19911014;20037584;20068231;20473308;21522185;21871094;22344226;22489132;23446148;23481700;23521171;24366607;24506266;24715725;24833748;25313070;25418920;25576301;25880347;26154972;26236191;26375003;26375851;26508369;27281216;27383986;27418190;27697150;27742543;27846572;28045099;28192157;28228285;28392147;28404884;28459430;28904123;29177860;29437277;29539421;29891674;29898893;29990470;30143555;30315122;30410026;30976076;30993897;31113851;31154438;31217245;31530632;31608988;31844290;31848261;31953257;31998317;32109412;32157095;32188940;32265295;32350084;32357974;32367036;32387766;32488085;32502341;32820063;32938616;32983136;33141586;33298915;33392160;33592498;33633747;33852854;33912179;33936100;33968037;33981976;34019948;34087483;34357683;34932366;35051231;35154160;35580925;35594856;35972780;36010968;36215666;36241641;36607699;37864300;38133702;38429278;38599239;38852642;39319591;7685021;9267021;9390557;9523727;9771715", "class_list": "", "function": "(Microbial infection) Pore-forming protein, which promotes maternal placental pyroptosis in response to Zika virus infection, contributing to adverse fetal outcomes., [UniProtKB, PubMed]; Gasdermin E promotes translocation of p65 and c-jun into nucleus in keratinocytes for progression of psoriatic skin inflammation. Publication Status: Online-Only, [RefSeq, PubMed]; Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Insight into the structure, function and the tumor suppression effect of gasdermin E. Review article, [RefSeq, PubMed]; Neutrophil Extracellular Traps Induce Pyroptosis of Rheumatoid Arthritis Fibroblast-Like Synoviocytes via the NF-kappaB/Caspase 3/GSDME Pathway., [RefSeq, PubMed]; Novel, pathogenic insertion variant of GSDME associates with autosomal dominant hearing loss in a large Chinese pedigree., [RefSeq, PubMed]; Pore-forming protein produced by cleavage by CASP3 or granzyme B (GZMB), which converts non-inflammatory apoptosis to pyroptosis or promotes granzyme-mediated pyroptosis, respectively (PubMed:27281216, PubMed:28459430, PubMed:32188940, PubMed:33852854, PubMed:35594856). After cleavage, moves to the plasma membrane, homooligomerizes within the membrane and forms pores of 10-15 nanometers (nm) of inner diameter, allowing the release of mature interleukins (IL1B and IL16) and triggering pyroptosis (PubMed:28459430, PubMed:32188940, PubMed:33852854, PubMed:35594856). Binds to inner leaflet lipids, bisphosphorylated phosphatidylinositols, such as phosphatidylinositol (4,5)-bisphosphate (PubMed:28459430). Cleavage by CASP3 switches CASP3-mediated apoptosis induced by TNF or danger signals, such as chemotherapy drugs, to pyroptosis (PubMed:27281216, PubMed:28459430, PubMed:32188940). Mediates secondary necrosis downstream of the mitochondrial apoptotic pathway and CASP3 activation as well as in response to viral agents (PubMed:28045099). Exhibits bactericidal activity (PubMed:27281216). Cleavage by GZMB promotes tumor suppressor activity by triggering robust anti-tumor immunity (PubMed:21522185, PubMed:32188940). Suppresses tumors by mediating granzyme-mediated pyroptosis in target cells of natural killer (NK) cells: cleavage by granzyme B (GZMB), delivered to target cells from NK-cells, triggers pyroptosis of tumor cells and tumor suppression (PubMed:31953257, PubMed:32188940). May play a role in the p53/TP53-regulated cellular response to DNA damage (PubMed:16897187)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Precursor of a pore-forming protein that converts non-inflammatory apoptosis to pyroptosis (PubMed:27281216, PubMed:28459430, PubMed:33852854, PubMed:35594856, PubMed:36607699). This form constitutes the precursor of the pore-forming protein: upon cleavage, the released N-terminal moiety (Gasdermin-E, N-terminal) binds to membranes and forms pores, triggering pyroptosis (PubMed:28459430)., [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": 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": 2, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 16, "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": "A4D156;B2RAX9;B3KT05;O14590;Q08AQ8;Q9UBV3", "ec_number_list": "", "go_molecular_function": "GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0022829 wide pore channel activity;GO:1901612 cardiolipin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0008285 negative regulation of cell population proliferation;GO:0043410 positive regulation of MAPK cascade;GO:0007605 sensory perception of sound;GO:2001244 positive regulation of intrinsic apoptotic signaling pathway;GO:0071356 cellular response to tumor necrosis factor", "synthesized_glycan_count": 0, "hit_score": 13.4, "record_id": "O60443-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P36402-5", "uniprot_id": "TCF7_HUMAN", "mass": 41552.0, "length": 384, "protein_name": "Transcription factor 7", "gene_name": "TCF7", "organism": "Human", "refseq_name": "transcription factor 7 isoform 3", "refseq_ac": "NP_001128323", "gene_names_uniprotkb": "TCF7; TCF1", "gene_names_refseq": "TCF-1; TCF7", "protein_names_uniprotkb": "Transcription factor 7; T-cell factor 1; T-cell-specific transcription factor 1; TCF-1; TCF-7", "protein_names_refseq": "T-cell-factor-7; T-cell-specific transcription factor 1; transcription factor 7 (T-cell specific, HMG-box); transcription factor 7 isoform 3", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:6932); (R-HSA-201722); (R-HSA-3769402); (R-HSA-4086398); (R-HSA-4411364); (R-HSA-4641265); (R-HSA-8951430); (R-HSA-9754189); (R-HSA-9796292); (R-HSA-9825892); (R-HSA-9909649)", "pathway_count": 11, "publication_count": 219, "publication_id_list": "10080941;10201372;10318916;10375506;10380924;10391246;10391247;10395542;10441331;10485845;10488343;10489374;10549281;10559189;10588714;10769018;10770922;10775268;10777564;10831834;10858654;10898789;10919662;10921920;10944533;11015615;11030334;11050151;11062467;11080158;11136974;11266540;11290324;11532957;11563835;11691915;11713476;11809808;11809809;11934263;11940574;11955446;11973335;11988739;12015605;12086864;12163411;12408824;12408825;12471263;12482967;12556497;12711682;12712206;12729560;12975316;14600025;14685266;14695187;14704854;14977528;15060161;15110706;15121853;15132997;15187083;15294866;15327769;15494017;15525529;15545263;15611108;1569101;15768032;15829968;16005293;16169192;16510874;16547505;16630820;16756492;16880514;16920709;17052462;17068183;17218525;17377531;17412698;17425782;17426020;17428831;17458864;17684012;17698607;17875931;17923689;18042803;18160704;18347063;18378692;18404694;18456304;18456656;18488142;18498752;18550259;18573912;18593890;18598779;18621708;18721877;18729794;18772112;18819930;19047045;19088198;19148484;19177143;19304756;19364920;19460168;19487454;19493659;19536106;19571879;19590513;19851316;1989880;19928349;19940019;20028982;20360007;20405012;21118996;21245162;21654818;21726809;21741376;21903638;22186018;22190459;22201888;22304967;22617422;22647378;22941947;22982193;23151663;23256519;23416699;23481700;23632248;23904219;24171719;24291232;24715725;25142731;25418920;25693565;25921273;25936800;26079538;26486273;26590425;27920218;28218747;28228285;2841328;28832583;29234012;29242379;29393594;29437277;29493099;29632046;29632711;29786170;30315122;30385408;31217245;31840817;31844290;32157095;32183950;32357974;32448362;32488085;32860047;32938616;32983136;33298915;33968037;35051231;35580925;36010968;37536668;37801516;38169425;7640309;7987387;8343963;8365415;8622675;8756721;8757136;8955148;9073455;9118222;9389482;9417125;9488439;9490669;9710594;9727977;9751710;9783587;9819412;9843967;9887105", "class_list": "", "function": "Characterization of TCF-1 and its relationship between CD8+ TIL densities and immune checkpoints and their joint influences on prognoses of lung adenocarcinoma patients., [RefSeq, PubMed]; Downregulation of TCF7 and LEF1 is a key determinant of tumor-infiltrating regulatory T-cell function., [RefSeq, PubMed]; TCF-1 limits intraepithelial lymphocyte antitumor immunity in colorectal carcinoma., [RefSeq, PubMed]; This gene encodes a member of the T-cell factor/lymphoid enhancer-binding factor family of high mobility group (HMG) box transcriptional activators. This gene is expressed predominantly in T-cells and plays a critical role in natural killer cell and innate lymphoid cell development. The encoded protein forms a complex with beta-catenin and activates transcription through a Wnt/beta-catenin signaling pathway. Mice with a knockout of this gene are viable and fertile, but display a block in T-lymphocyte differentiation. Alternative splicing results in multiple transcript variants. Naturally-occurring isoforms lacking the N-terminal beta-catenin interaction domain may act as dominant negative regulators of Wnt signaling. [provided by RefSeq, Oct 2016]., [RefSeq]; Transcriptional activator involved in T-cell lymphocyte differentiation. Necessary for the survival of CD4(+) CD8(+) immature thymocytes. Isoforms lacking the N-terminal CTNNB1 binding domain cannot fulfill this role. Binds to the T-lymphocyte-specific enhancer element (5'-WWCAAAG-3') found in the promoter of the CD3E gene. Represses expression of the T-cell receptor gamma gene in alpha-beta T-cell lineages (By similarity). Required for the development of natural killer receptor-positive lymphoid tissue inducer T-cells (By similarity). TLE1, TLE2, TLE3 and TLE4 repress transactivation mediated by TCF7 and CTNNB1. May also act as feedback transcriptional repressor of CTNNB1 and TCF7L2 target genes., [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": 4, "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": "B3KSH3;Q86WR9;Q9UKI4", "ec_number_list": "", "go_molecular_function": "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:0008013 beta-catenin binding;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:1990907 beta-catenin-TCF complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006955 immune response;GO:0006355 regulation of DNA-templated transcription;GO:0060070 canonical Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 22.0, "record_id": "P36402-5", "record_type": "protein" }, { "uniprot_canonical_ac": "Q06787-1", "uniprot_id": "FMR1_HUMAN", "mass": 71174.0, "length": 632, "protein_name": "Fragile X messenger ribonucleoprotein 1", "gene_name": "FMR1", "organism": "Human", "refseq_name": "fragile X messenger ribonucleoprotein 1 isoform ISO6", "refseq_ac": "NP_001172004", "gene_names_uniprotkb": "FMR1", "gene_names_refseq": "FMR1; FMRP; FRAXA; POF1; POFX; POF", "protein_names_uniprotkb": "Fragile X messenger ribonucleoprotein 1; FMRP; Fragile X messenger ribonucleoprotein; Protein FMR-1", "protein_names_refseq": "FMRP translational regulator 1; fragile X messenger ribonucleoprotein 1 isoform ISO6; synaptic functional regulator FMR1", "tax_id": 9606, "disease": "fragile X-associated tremor/ataxia syndrome (Disease Ontology:DOID:0050879); withdrawal disorder (Disease Ontology:DOID:0060001); autism spectrum disorder (Disease Ontology:DOID:0060041); myoclonic-atonic epilepsy (Disease Ontology:DOID:0060475); primary ovarian insufficiency 1 (Disease Ontology:DOID:0080857); fragile X syndrome (Disease Ontology:DOID:14261); alcohol use disorder (Disease Ontology:DOID:1574); transient cerebral ischemia (Disease Ontology:DOID:224); glucose metabolism disease (Disease Ontology:DOID:4194); primary ovarian insufficiency (Disease Ontology:DOID:5426); malignant pleural mesothelioma (Disease Ontology:DOID:7474); progressive encephalopathy with leukodystrophy due to DECR deficiency (MONDO:MONDO:0014464)", "pathway": " (hsa:2332)", "pathway_count": 1, "publication_count": 139, "publication_id_list": "10.1101/2023.09.13.557529;10196376;10556305;11157796;11237011;11445641;11532944;11719188;11719189;12417522;12417734;12446764;12575950;12594214;12837692;12927206;12950170;14508492;14532325;14703574;15282548;15380484;15381419;15805463;16407062;16571602;16631377;16636078;16922515;17057366;17081983;1710175;17417632;17850748;18093976;18452278;18474609;18579868;18632687;18653529;18664458;18936162;19097999;19166269;20068231;20512134;20799337;21771594;22080836;22424782;22706990;23235829;23301498;23481700;23891804;24204304;24275569;24448548;24514761;24658146;24715725;24722188;24813610;25418920;25464849;25561520;25645385;25692235;25892735;26154972;26992070;27397612;27509095;28228285;28510447;28514659;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29632711;29769354;30315122;30429286;30484775;30765518;31112584;31439799;31753916;31844290;32157095;32357974;32387766;32488085;32502341;32938616;32983136;33109704;33123756;33141586;33214551;33298915;33592498;33717175;33968037;33972660;34019948;34211107;34509645;35051231;35318648;35561310;35580925;36010968;36284347;37217939;39106863;7489725;7633450;7688265;7692601;7781595;7825604;8156595;8401496;8401578;8490650;8504300;8515814;8668200;8789445;9259278;9302998;9375856;9659908;9719368", "class_list": "", "function": "(Microbial infection) Acts as a positive regulator of influenza A virus (IAV) replication. Required for the assembly and nuclear export of the viral ribonucleoprotein (vRNP) components., [UniProtKB, PubMed]; Binds to RNA homomer; preferentially on poly(G) and to a lesser extent on poly(U), but not on poly(A) or poly(C) (PubMed:24204304). May bind to RNA in Cajal bodies (PubMed:24204304)., [UniProtKB, PubMed]; Multifunctional polyribosome-associated RNA-binding protein that plays a central role in neuronal development and synaptic plasticity through the regulation of alternative mRNA splicing, mRNA stability, mRNA dendritic transport and postsynaptic local protein synthesis of target mRNAs (PubMed:12417522, PubMed:16631377, PubMed:18653529, PubMed:19166269, PubMed:23235829, PubMed:25464849). Acts as an mRNA regulator by mediating formation of some phase-separated membraneless compartment: undergoes liquid-liquid phase separation upon binding to target mRNAs, leading to assemble mRNAs into cytoplasmic ribonucleoprotein granules that concentrate mRNAs with associated regulatory factors (PubMed:12417522, PubMed:30765518, PubMed:31439799). Plays a role in the alternative splicing of its own mRNA (PubMed:18653529). Stabilizes the scaffolding postsynaptic density protein DLG4/PSD-95 and the myelin basic protein (MBP) mRNAs in hippocampal neurons and glial cells, respectively; this stabilization is further increased in response to metabotropic glutamate receptor (mGluR) stimulation (By similarity). Plays a role in selective delivery of a subset of dendritic mRNAs to synaptic sites in response to mGluR activation in a kinesin-dependent manner (By similarity). Undergoes liquid-liquid phase separation following phosphorylation and interaction with CAPRIN1, promoting formation of cytoplasmic ribonucleoprotein granules that concentrate mRNAs with factors that inhibit translation and mediate deadenylation of target mRNAs (PubMed:31439799). Acts as a repressor of mRNA translation in synaptic regions by mediating formation of neuronal ribonucleoprotein granules and promoting recruitmtent of EIF4EBP2 (PubMed:30765518). Plays a role as a repressor of mRNA translation during the transport of dendritic mRNAs to postsynaptic dendritic spines (PubMed:11157796, PubMed:11532944, PubMed:12594214, PubMed:23235829). Component of the CYFIP1-EIF4E-FMR1 complex which blocks cap-dependent mRNA translation initiation (By similarity). Represses mRNA translation by stalling ribosomal translocation during elongation (By similarity). Reports are contradictory with regards to its ability to mediate translation inhibition of MBP mRNA in oligodendrocytes (PubMed:23891804). Also involved in the recruitment of the RNA helicase MOV10 to a subset of mRNAs and hence regulates microRNA (miRNA)-mediated translational repression by AGO2 (PubMed:14703574, PubMed:17057366, PubMed:25464849). Facilitates the assembly of miRNAs on specific target mRNAs (PubMed:17057366). Also plays a role as an activator of mRNA translation of a subset of dendritic mRNAs at synapses (PubMed:19097999, PubMed:19166269). In response to mGluR stimulation, FMR1-target mRNAs are rapidly derepressed, allowing for local translation at synapses (By similarity). Binds to a large subset of dendritic mRNAs that encode a myriad of proteins involved in pre- and postsynaptic functions (PubMed:11157796, PubMed:11719189, PubMed:12594214, PubMed:17417632, PubMed:23235829, PubMed:24448548, PubMed:7692601). Binds to 5'-ACU[GU]-3' and/or 5'-[AU]GGA-3' RNA consensus sequences within mRNA targets, mainly at coding sequence (CDS) and 3'-untranslated region (UTR) and less frequently at 5'-UTR (PubMed:23235829). Binds to intramolecular G-quadruplex structures in the 5'- or 3'-UTRs of mRNA targets (PubMed:11719189, PubMed:18579868, PubMed:25464849, PubMed:25692235). Binds to G-quadruplex structures in the 3'-UTR of its own mRNA (PubMed:11532944, PubMed:12594214, PubMed:15282548, PubMed:18653529, PubMed:7692601). Also binds to RNA ligands harboring a kissing complex (kc) structure; this binding may mediate the association of FMR1 with polyribosomes (PubMed:15805463). Binds mRNAs containing U-rich target sequences (PubMed:12927206). Binds to a triple stem-loop RNA structure, called Sod1 stem loop interacting with FMRP (SoSLIP), in the 5'-UTR region of superoxide dismutase SOD1 mRNA (PubMed:19166269). Binds to the dendritic, small non-coding brain cytoplasmic RNA 1 (BC1); which may increase the association of the CYFIP1-EIF4E-FMR1 complex to FMR1 target mRNAs at synapses (By similarity). Plays a role in mRNA nuclear export (PubMed:31753916). Specifically recognizes and binds a subset of N6-methyladenosine (m6A)-containing mRNAs, promoting their nuclear export in a XPO1/CRM1-dependent manner (PubMed:31753916). Together with export factor NXF2, is involved in the regulation of the NXF1 mRNA stability in neurons (By similarity). Associates with export factor NXF1 mRNA-containing ribonucleoprotein particles (mRNPs) in a NXF2-dependent manner (By similarity). Binds to a subset of miRNAs in the brain (PubMed:14703574, PubMed:17057366). May associate with nascent transcripts in a nuclear protein NXF1-dependent manner (PubMed:18936162). In vitro, binds to RNA homomer; preferentially on poly(G) and to a lesser extent on poly(U), but not on poly(A) or poly(C) (PubMed:12950170, PubMed:15381419, PubMed:7688265, PubMed:7781595, PubMed:8156595). Moreover, plays a role in the modulation of the sodium-activated potassium channel KCNT1 gating activity (PubMed:20512134). Negatively regulates the voltage-dependent calcium channel current density in soma and presynaptic terminals of dorsal root ganglion (DRG) neurons, and hence regulates synaptic vesicle exocytosis (By similarity). Modulates the voltage-dependent calcium channel CACNA1B expression at the plasma membrane by targeting the channels for proteasomal degradation (By similarity). Plays a role in regulation of MAP1B-dependent microtubule dynamics during neuronal development (By similarity). Has been shown to play a translation-independent role in the modulation of presynaptic action potential (AP) duration and neurotransmitter release via large-conductance calcium-activated potassium (BK) channels in hippocampal and cortical excitatory neurons (PubMed:25561520). May be involved in the control of DNA damage response (DDR) mechanisms through the regulation of ATR-dependent signaling pathways such as histone H2AX/H2A.x and BRCA1 phosphorylations (PubMed:24813610). Forms a cytoplasmic messenger ribonucleoprotein (mRNP) network by packaging long mRNAs, serving as a scaffold that recruits proteins and signaling molecules. This network facilitates signaling reactions by maintaining proximity between kinases and substrates (PubMed:39106863)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [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": 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": 22, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 12, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NNH4;D3DWT0;D3DWT1;D3DWT2;G8JL90;Q16578;Q5PQZ6;Q99054", "ec_number_list": "", "go_molecular_function": "GO:1990825 sequence-specific mRNA binding;GO:0003682 chromatin binding;GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0008017 microtubule binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:2000301 negative regulation of synaptic vesicle exocytosis;GO:0060965 negative regulation of miRNA-mediated gene silencing;GO:0006281 DNA repair;GO:0006397 mRNA processing;GO:0006406 mRNA export from nucleus", "synthesized_glycan_count": 0, "hit_score": 14.4, "record_id": "Q06787-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P27707-1", "uniprot_id": "DCK_HUMAN", "mass": 30519.0, "length": 260, "protein_name": "Deoxycytidine kinase", "gene_name": "DCK", "organism": "Human", "refseq_name": "deoxycytidine kinase", "refseq_ac": "NP_000779", "gene_names_uniprotkb": "DCK", "gene_names_refseq": "DCK", "protein_names_uniprotkb": "Deoxycytidine kinase; 2.7.1.113; 2.7.1.74; 2.7.1.76; Deoxyadenosine kinase; Deoxyguanosine kinase; dCK", "protein_names_refseq": "deoxyadenosine kinase; deoxycytidine kinase; deoxyguanosine kinase; deoxynucleoside kinase", "tax_id": 9606, "disease": "hyperekplexia (Disease Ontology:DOID:0060695); hyperekplexia 1 (Disease Ontology:DOID:0060696)", "pathway": " (hsa:1633); (R-HSA-73614); (R-HSA-74217)", "pathway_count": 3, "publication_count": 137, "publication_id_list": "1063125;11237011;11306702;11427893;12009299;12199906;12429345;12808445;12849978;1406603;1429593;14609716;14725767;15130468;15689149;15733844;1590793;1597187;16359702;16421443;17350163;17525332;17530837;18077418;18377927;18399692;18669648;18691976;19159229;19291308;195585;19836232;1996353;20068231;2013338;20230923;2026611;20614893;20637175;20684612;20722631;2104852;21755941;218932;22490700;227870;23186163;23783831;24029068;24715725;2539852;25418920;2542307;2548513;25576301;25880248;26154972;26768311;26992070;27846572;27862975;27920218;28218747;28228285;2844225;2845866;28514659;28832583;28834231;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;2999129;3029074;30315122;30429286;30833945;31217245;31530632;3182793;31844290;31848261;31937595;31998317;32144205;32157095;32387766;32502341;32897882;32938616;32983136;33141586;33298915;3335503;33592498;33691108;3372530;33912179;33936100;33968037;34171305;34185709;34211107;34357683;34509645;34561969;34571370;34825941;34932366;35051231;35132862;35318648;35580925;36010968;36284347;38346958;40307207;40914422;457664;6281270;6300847;6771276;7284378;7488099;7923172;8340387;8692979;9342341;9804782;9843365;9857047;9989599", "class_list": "", "function": "Combination of azacytidine and curcumin is a potential alternative in decitabine-resistant colorectal cancer cells with attenuated deoxycytidine kinase., [RefSeq, PubMed]; Deoxycytidine kinase (DCK) is required for the phosphorylation of several deoxyribonucleosides and their nucleoside analogs. Deficiency of DCK is associated with resistance to antiviral and anticancer chemotherapeutic agents. Conversely, increased deoxycytidine kinase activity is associated with increased activation of these compounds to cytotoxic nucleoside triphosphate derivatives. DCK is clinically important because of its relationship to drug resistance and sensitivity. [provided by RefSeq, Jul 2008]., [RefSeq]; Deoxycytidine kinase inactivation enhances gemcitabine resistance and sensitizes mitochondrial metabolism interference in pancreatic cancer. Erratum:[Cell Death Dis. 2024 May 31;15(5):384. doi: 10.1038/s41419-024-06628-3. PMID: 38821944] Publication Status: Online-Only, [RefSeq, PubMed]; Drug resistance to nelarabine in leukemia cell lines might be caused by reduced expression of deoxycytidine kinase through epigenetic mechanisms., [RefSeq, PubMed]; Phosphorylates the deoxyribonucleosides deoxycytidine, deoxyguanosine and deoxyadenosine (PubMed:12808445, PubMed:18377927, PubMed:19159229, PubMed:1996353, PubMed:20614893, PubMed:20637175). Has broad substrate specificity, and does not display selectivity based on the chirality of the substrate. It is also an essential enzyme for the phosphorylation of numerous nucleoside analogs widely employed as antiviral and chemotherapeutic agents (PubMed:12808445)., [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": 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": 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": "B2R8V6;Q5TZY7;Q6FI11", "ec_number_list": "2.7.1.113;2.7.1.76;2.7.1.74", "go_molecular_function": "GO:0004138 deoxyguanosine kinase activity;GO:0005524 ATP binding;GO:0042803 protein homodimerization activity;GO:0004137 deoxycytidine kinase activity;GO:0004136 deoxyadenosine kinase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0032261 purine nucleotide salvage;GO:0006220 pyrimidine nucleotide metabolic process;GO:1901293 nucleoside phosphate biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 14.0, "record_id": "P27707-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O94830-1", "uniprot_id": "DDHD2_HUMAN", "mass": 81032.0, "length": 711, "protein_name": "Triacylglycerol hydrolase DDHD2", "gene_name": "DDHD2", "organism": "Human", "refseq_name": "triacylglycerol hydrolase DDHD2 isoform 1", "refseq_ac": "NP_001157704", "gene_names_uniprotkb": "DDHD2; KIAA0725; SAMWD1", "gene_names_refseq": "DDHD2; SAMWD1; SPG54; iPLA(1)gamma; iPLA1A; iPLA1gamma; p125B", "protein_names_uniprotkb": "Triacylglycerol hydrolase DDHD2; 3.1.1.-; 3.1.1.3; DDHD domain-containing protein 2; KIAA0725p; Phospholipase DDHD2; SAM, WWE and DDHD domain-containing protein 1; TAG hydrolase; Triglyceride hydrolase DDHD2; Triglyceride lipase", "protein_names_refseq": "PA-PLA1 like; SAM, WWE and DDHD domain-containing protein 1; TAG hydrolase; intracellular phospholipase A1gamma; phospholipase DDHD2; sec23p-interacting protein p125-like phosphatidic acid-preferring phospholipase A1; triacylglycerol hydrolase DDHD2 isoform 1; triacylglycerol hydrolase DDHD2; triglyceride hydrolase DDHD2; triglyceride lipase", "tax_id": 9606, "disease": "hereditary spastic paraplegia 28 (Disease Ontology:DOID:0110779); hereditary spastic paraplegia 54 (Disease Ontology:DOID:0110806); hereditary spastic paraplegia (Disease Ontology:DOID:2476)", "pathway": " (hsa:23259); (R-HSA-1483166)", "pathway_count": 2, "publication_count": 95, "publication_id_list": "10455175;10506173;10553003;10681567;11031251;11112443;11237011;11788596;11830583;12063250;12161451;12359733;12522102;12963729;14573790;15367102;15623529;16460752;16495223;16620771;16704971;16864775;17028579;17170135;17707131;18212344;18238778;18718904;19330026;19336658;19666841;20705608;20932832;21173190;22706990;22777291;22922100;23176821;23176823;23486545;23807634;24397554;24482476;24966474;25418920;25576301;26375851;26711011;26992070;27846572;27920218;28063628;28904123;29242379;2925608;29278326;29314611;29393594;29557506;29632046;30410026;31844290;32157095;32265295;32387766;32938616;33298915;33392160;33537174;33912179;33968037;34171305;34357683;34509645;34561969;3458202;35051231;36010968;36241641;37420318;37832604;37837560;38332048;39062593;7060561;7821823;8163052;8186247;8300559;8530346;8687421;9188469;9212163;9461603;9582313", "class_list": "", "function": "Biallelic DDHD2 mutations in patients with adult-onset complex hereditary spastic paraplegia., [RefSeq, PubMed]; DDHD2, whose mutations cause spastic paraplegia type 54, enhances lipophagy via engaging ATG8 family proteins., [RefSeq, PubMed]; Data show that FGFR1 and DDHD2 at 8p12 cooperated functionally with MYC, whereas CCND1 and ZNF703 cooperated with a dominant negative form of TP53., [RefSeq, PubMed]; Diacylglycerol (DAG) and triacylglycerol (TAG) lipase required for proper lipid homeostasis in the central nervous system (PubMed:29278326, PubMed:37832604). It cooperates with PNPLA2/ATGL in neuronal TAG catabolism and hydrolyzes sn-1,3 DAG downstream of PNPLA2/ATGL (By similarity). In vitro, it also acts as a phospholipase that hydrolyzes preferentially phosphatidic acids, including 1,2-dioleoyl-sn-phosphatidic acid, phosphatidylcholine and phosphatidylethanolamine. Specifically binds to phosphatidylinositol 3-phosphate (PI(3)P), phosphatidylinositol 4-phosphate (PI(4)P), phosphatidylinositol 5-phosphate (PI(5)P) and possibly phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2). May be involved in the maintenance of the endoplasmic reticulum and/or Golgi structures. May regulate the transport between Golgi apparatus and plasma membrane., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in TMEM141, DDHD2, and LHFPL5., [RefSeq, PubMed]; Radiation-Induced Endothelial Ferroptosis Accelerates Atherosclerosis via the DDHD2-Mediated Nrf2/GPX4 Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a phospholipase enzyme containing sterile-alpha-motif (SAM), WWE, and DDHD domains. This protein participates in membrane trafficking between the endoplastic reticulum and the Golgi body. Mutations in this gene can cause autosomal recessive spastic paraplegia 54. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 16, "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": "B3KWV2;B3KXB5;Q9H8X7", "ec_number_list": "3.1.1.-;3.1.1.3;3.1.1.23;3.1.-.-;3.1.1.32;3.1.1.34;3.1.1.79;3.1.1.6;3.1.1.5;3.1.1.13;3.1.1.4;2.3.1.-;3.1.1.26;3.1.1.116;3.1.1.111;3.1.1.118;2.3.1.51", "go_molecular_function": "GO:0046872 metal ion binding;GO:0004620 phospholipase activity;GO:0004806 triacylglycerol lipase activity;GO:0120516 diacylglycerol lipase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0016020 membrane;GO:0030134 COPII-coated ER to Golgi transport vesicle", "go_biological_process": "GO:0016042 lipid catabolic process", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "O94830-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P35659-1", "uniprot_id": "DEK_HUMAN", "mass": 42674.0, "length": 375, "protein_name": "Protein DEK", "gene_name": "DEK", "organism": "Human", "refseq_name": "protein DEK isoform 2", "refseq_ac": "NP_001128181", "gene_names_uniprotkb": "DEK", "gene_names_refseq": "D6S231E; DEK", "protein_names_uniprotkb": "Protein DEK", "protein_names_refseq": "DEK oncogene (DNA binding); protein DEK isoform 2; protein DEK", "tax_id": 9606, "disease": "", "pathway": " (hsa:7913); (R-HSA-5250924); (R-HSA-8864260); (R-HSA-9616222)", "pathway_count": 4, "publication_count": 168, "publication_id_list": "10233885;10330422;11118221;11237011;11242107;11340171;11369759;11564866;11684017;11867521;12140263;12242300;12595566;12702500;12869508;14517214;15199154;15238633;1549122;15558034;16514417;16603771;16751774;16809543;17063141;17081983;17287340;17524367;17562868;17924679;18227428;18318008;18452278;18669648;18776924;19007248;19413330;19651622;19695025;20068231;20112406;20166139;20661648;21406692;21471526;21559432;21993314;22371011;22474248;23001182;23186163;23301498;23481700;23555303;23667505;23783831;24029068;24275569;24379003;24584857;24714562;24715725;24901984;24952918;2524830;25502872;25576301;25645385;25784653;25810538;25892735;26154972;26375851;26728094;26768311;26992070;2721961;27397612;27543614;27600516;27846572;27862975;27920218;28063628;28190768;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29431622;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30379171;30429286;30620550;30779550;30833945;31154438;31222486;31844290;31848261;31937595;31998317;32119511;32157095;32350084;32387766;32488085;32502341;32522876;32897882;32938616;32983136;33141586;33214551;33392160;33465208;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34433824;34509645;34932366;35051231;35083852;35138101;35251023;35318648;35561310;35580925;36010968;36190960;36241641;36284347;36535490;36581221;37172756;37217939;37550322;37938771;38665916;39384745;39894887;40596516;40914422;7862113;8695841;8846917;9029102;9177240", "class_list": "", "function": "DEK regulates B-cell proliferative capacity and is associated with aggressive disease in low-grade B-cell lymphomas. Publication Status: Online-Only, [RefSeq, PubMed]; Doxorubicin induces prolonged DNA damage signal in cells overexpressing DEK isoform-2. Publication Status: Online-Only, [RefSeq, PubMed]; Imaging-based study demonstrates how the DEK nanoscale distribution differentially correlates with epigenetic marks in a breast cancer model. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in chromatin organization., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Role of DEK in carcinogenesis, diagnosis, prognosis, and therapeutic outcome of breast cancer: An evidence-based clinical review. Review article, [RefSeq, PubMed]; The impact of the chromatin binding DEK protein in hematopoiesis and acute myeloid leukemia. Review article, [RefSeq, PubMed]; This gene encodes a protein with one SAP domain. This protein binds to cruciform and superhelical DNA and induces positive supercoils into closed circular DNA, and is also involved in splice site selection during mRNA processing. Chromosomal aberrations involving this region, increased expression of this gene, and the presence of antibodies against this protein are all associated with various diseases. Two transcript variants encoding different isoforms have been found for this gene. [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": 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": 38, "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": 4, "binding_glycan_count": 0, "secondary_ac_list": "B2R6K6;B4DN37;Q5TGV4;Q5TGV5", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0043292 contractile muscle fiber", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007165 signal transduction;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006366 transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 17.4, "record_id": "P35659-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O15296-1", "uniprot_id": "LX15B_HUMAN", "mass": 75857.0, "length": 676, "protein_name": "Polyunsaturated fatty acid lipoxygenase ALOX15B", "gene_name": "ALOX15B", "organism": "Human", "refseq_name": "polyunsaturated fatty acid lipoxygenase ALOX15B isoform a", "refseq_ac": "NP_001034219", "gene_names_uniprotkb": "ALOX15B", "gene_names_refseq": "15-LOX-2; ALOX15B", "protein_names_uniprotkb": "Polyunsaturated fatty acid lipoxygenase ALOX15B; 1.13.11.-; 1.13.11.33; 15-LOX-2; 15-LOX-B; 15-lipoxygenase 2; Arachidonate 15-lipoxygenase B; Arachidonate 15-lipoxygenase type II; Linoleate 13-lipoxygenase 15-LOb", "protein_names_refseq": "15-LOX-B; 15S-lipoxygenase; arachidonate 15-lipoxygenase 2; arachidonate 15-lipoxygenase type II; arachidonate 15-lipoxygenase, second type; arachidonate omega(6) lipoxygenase; linoleate 13-lipoxygenase 15-LOb; polyunsaturated fatty acid lipoxygenase ALOX15B isoform a; polyunsaturated fatty acid lipoxygenase ALOX15B", "tax_id": 9606, "disease": "", "pathway": " (hsa:247); (R-HSA-2142770)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "10542053;10625675;11237011;11350124;11839751;11956198;12704195;16112079;1662607;17493578;17662651;18067895;18311922;18570379;18755188;22912809;24282679;24497644;2501828;25576301;25892735;27145229;27435673;29242379;29557506;29786170;31288808;31420013;32157095;32387766;32404334;32488085;32983136;33141586;34561969;35051231;36284347;37716021;38581859;7568157;8334154;9177185", "class_list": "", "function": "15-lipoxygenase and cyclooxygenase expression profile and their related modulators in COVID-19 infection., [RefSeq, PubMed]; ALOX15B controls macrophage cholesterol homeostasis via lipid peroxidation, ERK1/2 and SREBP2., [RefSeq, PubMed]; ALOX15B expression and up-regulation in the functional and non-functional pituitary adenomas. Publication Status: Online-Only, [RefSeq, PubMed]; Does not convert arachidonic acid to 15S-hydroperoxyeicosatetraenoic acid/(15S)-HPETE., [UniProtKB, PubMed]; Low 15-LOX-2 expression is associated with lung carcinogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Non-heme iron-containing dioxygenase that catalyzes the stereo-specific peroxidation of free and esterified polyunsaturated fatty acids (PUFAs) generating a spectrum of bioactive lipid mediators (Probable) (PubMed:10542053, PubMed:10625675, PubMed:12704195, PubMed:17493578, PubMed:18311922, PubMed:24282679, PubMed:24497644, PubMed:32404334, PubMed:9177185). It inserts peroxyl groups at C15 of arachidonate ((5Z,8Z,11Z,14Z)-eicosatetraenoate) producing (15S)-hydroperoxyeicosatetraenoate/(15S)-HPETE (Probable) (PubMed:10625675, PubMed:11956198, PubMed:12704195, PubMed:17493578, PubMed:24282679, PubMed:24497644, PubMed:9177185). Also peroxidizes linoleate ((9Z,12Z)-octadecadienoate) to 13-hydroperoxyoctadecadienoate/13-HPODE (Probable) (PubMed:10542053, PubMed:27435673). Oxygenates arachidonyl derivatives such as 2-arachidonoylglycerol (2-AG) leading to the production and extracellular release of 15-hydroxyeicosatetraenoyl glycerol (15-HETE-G) that acts as a peroxisome proliferator-activated receptor alpha agonist (PubMed:11956198, PubMed:17493578, PubMed:18311922). Has the ability to efficiently class-switch ALOX5 pro-inflammatory mediators into anti-inflammatory intermediates (PubMed:27145229). Participates in the sequential oxidations of DHA ((4Z,7Z,10Z,13Z,16Z,19Z)-docosahexaenoate) to generate specialized pro-resolving mediators (SPMs) resolvin D5 ((7S,17S)-diHPDHA), which can actively down-regulate the immune response and have anti-aggregation properties with platelets (PubMed:32404334). In addition to free PUFAs hydrolyzed from phospholipids, it directly oxidizes PUFAs esterified to membrane-bound phospholipids (PubMed:27435673). Has no detectable 8S-lipoxygenase activity on arachidonate but reacts with (8S)-HPETE to produce (8S,15S)-diHPETE (Probable). May regulate progression through the cell cycle and cell proliferation (PubMed:11839751, PubMed:12704195). May also regulate cytokine secretion by macrophages and therefore play a role in the immune response (PubMed:18067895). May also regulate macrophage differentiation into proatherogenic foam cells (PubMed:22912809)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the lipoxygenase family of structurally related nonheme iron dioxygenases involved in the production of fatty acid hydroperoxides. The encoded protein converts arachidonic acid exclusively to 15S-hydroperoxyeicosatetraenoic acid, while metabolizing linoleic acid less effectively. This gene is located in a cluster of related genes and a pseudogene that spans approximately 100 kilobases on the short arm of chromosome 17. Alternatively spliced transcript variants 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 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": "D3DTR2;Q8IYQ2;Q8TEV3;Q8TEV4;Q8TEV5;Q8TEV6;Q9UKM4", "ec_number_list": "1.13.11.-;1.13.11.33;1.13.11.31;1.13.11.12", "go_molecular_function": "GO:0005506 iron ion binding;GO:0005509 calcium ion binding;GO:0008289 lipid binding;GO:0016165 linoleate 13S-lipoxygenase activity;GO:0036403 arachidonate 8(S)-lipoxygenase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0005912 adherens junction", "go_biological_process": "GO:0071926 endocannabinoid signaling pathway;GO:0034440 lipid oxidation;GO:0006629 lipid metabolic process;GO:0008285 negative regulation of cell population proliferation;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "O15296-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TF08-1", "uniprot_id": "CX7B2_HUMAN", "mass": 9077.0, "length": 81, "protein_name": "Cytochrome c oxidase subunit 7B2, mitochondrial", "gene_name": "COX7B2", "organism": "Human", "refseq_name": "cytochrome c oxidase subunit 7B2, mitochondrial precursor", "refseq_ac": "NP_570972", "gene_names_uniprotkb": "COX7B2", "gene_names_refseq": "COX7B2", "protein_names_uniprotkb": "Cytochrome c oxidase subunit 7B2, mitochondrial; Cytochrome c oxidase polypeptide VIIb2", "protein_names_refseq": "cytochrome c oxidase polypeptide VIIb2; cytochrome c oxidase subunit 7B2, mitochondrial precursor; cytochrome c oxidase subunit 7B2, mitochondrial; cytochrome c oxidase subunit VIIb2", "tax_id": 9606, "disease": "", "pathway": " (hsa:170712)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;15623157;19064571", "class_list": "", "function": "Codon 26 of COX7B2 gene might be evolutionarily conserved and the rare variation His26Gln may be associated with a high risk of nasopharyngeal carcinoma, [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]; 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": 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": "Q32Q40", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0045277 respiratory chain complex IV", "go_biological_process": "GO:0006123 mitochondrial electron transport, cytochrome c to oxygen", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q8TF08-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N0Z3-1", "uniprot_id": "SPICE_HUMAN", "mass": 96264.0, "length": 855, "protein_name": "Spindle and centriole-associated protein 1", "gene_name": "SPICE1", "organism": "Human", "refseq_name": "spindle and centriole-associated protein 1", "refseq_ac": "NP_001318007", "gene_names_uniprotkb": "SPICE1; CCDC52; SPICE", "gene_names_refseq": "CCDC52; SPICE1; SPICE", "protein_names_uniprotkb": "Spindle and centriole-associated protein 1; Coiled-coil domain-containing protein 52; Spindle and centriole-associated protein", "protein_names_refseq": "coiled-coil domain-containing protein 52; spindle and centriole-associated protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:152185)", "pathway_count": 1, "publication_count": 56, "publication_id_list": "10.1101/2023.09.13.557529;11237011;14654843;15302935;17081983;18669648;19413330;19651622;19664994;19690332;19691289;20068231;20736305;23186163;23481700;23810536;25505266;26154972;26992070;27600516;27920218;28832583;28904123;29242379;29314611;29331515;29557506;29789417;30059200;30379171;30429286;30485161;30524438;31530632;31844290;31848261;32157095;32161166;32265295;32357974;32387766;32488085;32938616;32983136;33592498;33691108;33912179;33968037;34087483;34171305;34509645;35051231;35580925;36010968;36241641;37217939", "class_list": "", "function": "CEP120 associates with SPICE1 and CPAP, and depletion of any of these proteins results in short procentrioles. Furthermore, CEP120 or CPAP overexpression results in excessive centriole elongation, a process dependent on CEP120, SPICE1, and CPAP., [RefSeq, PubMed]; Regulator required for centriole duplication, for proper bipolar spindle formation and chromosome congression in mitosis., [UniProtKB, PubMed]; SPICE is required for centriole duplication and mitotic chromosome congression., [RefSeq, PubMed]; Temporal and spatial Aurora kinase-mediated regulation of SPICE1 is important for correct chromosome segregation., [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": 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": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "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": "D3DN72;Q8WUX6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005813 centrosome;GO:0005819 spindle;GO:0005814 centriole;GO:0036064 ciliary basal body", "go_biological_process": "GO:0051310 metaphase chromosome alignment;GO:0051301 cell division;GO:0090307 mitotic spindle assembly;GO:0046599 regulation of centriole replication", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q8N0Z3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q14CZ0-1", "uniprot_id": "HAPR1_HUMAN", "mass": 30926.0, "length": 275, "protein_name": "HUWE1-associated protein modifying stress responses 1", "gene_name": "HAPSTR1", "organism": "Human", "refseq_name": "HUWE1-associated protein modifying stress responses 1", "refseq_ac": "NP_054836", "gene_names_uniprotkb": "HAPSTR1; C16orf72; TAPR1", "gene_names_refseq": "C16orf72; HAPSTR1; PRO0149; TAPR1", "protein_names_uniprotkb": "HUWE1-associated protein modifying stress responses 1; Telomere attrition and p53 response 1 protein", "protein_names_refseq": "HUWE1-associated protein modifying stress responses 1; Telomere Attrition and p53 Response 1; UPF0472 protein C16orf72; telomere attrition and p53 response 1 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:29035)", "pathway_count": 1, "publication_count": 56, "publication_id_list": "11237011;18669648;19664994;23186163;23481700;24715725;25418920;25505266;25576301;25892735;26375851;26992070;27600516;27846572;27862975;27920218;28218747;28649982;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29769354;30410026;30429286;31154438;31844290;31848261;32157095;32357974;32502341;32938616;32983136;33123756;33298915;33660365;33717175;33912179;34087483;34133663;34171305;34185709;34561969;34932366;35051231;35580925;35776542;36284347;36581221;36631436", "class_list": "", "function": "A novel p53 regulator, C16ORF72/TAPR1, buffers against telomerase inhibition., [RefSeq, PubMed]; Acts as a central player within a network of stress response pathways promoting cellular adaptability. The E3 ligase HUWE1 assists HAPSTR1 in controlling stress signaling and in turn, HUWE1 feeds back to promote the degradation of HAPSTR1. HAPSTR1 represents a central coordination mechanism for stress response programs (PubMed:35776542). Functions as a negative regulator of TP53/P53 in the cellular response to telomere erosion and probably also DNA damage (PubMed:33660365). May attenuate p53/TP53 activation through the E3 ubiquitin ligase HUWE1 (PubMed:33660365)., [UniProtKB, PubMed, PubMed]; C16orf72/HAPSTR1 is a molecular rheostat in an integrated network of stress response pathways., [RefSeq, PubMed]; Telomere Attrition and p53 Response 1 (TAPR1): a new player in cancer biology? 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": 4, "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:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0080135 regulation of cellular response to stress;GO:1901797 negative regulation of signal transduction by p53 class mediator", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q14CZ0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q969M2-1", "uniprot_id": "CXA10_HUMAN", "mass": 61872.0, "length": 543, "protein_name": "Gap junction alpha-10 protein", "gene_name": "GJA10", "organism": "Human", "refseq_name": "gap junction alpha-10 protein", "refseq_ac": "NP_115991", "gene_names_uniprotkb": "GJA10; CX62", "gene_names_refseq": "CX62; GJA10", "protein_names_uniprotkb": "Gap junction alpha-10 protein; Connexin-62; Cx62", "protein_names_refseq": "connexin 62; gap junction alpha-10 protein; gap junction protein, alpha 10, 62kDa", "tax_id": 9606, "disease": "", "pathway": " (hsa:84694); (R-HSA-112303); (R-HSA-190861)", "pathway_count": 3, "publication_count": 16, "publication_id_list": "10191254;10462698;11237011;12108537;12881038;14597722;15536180;17200141;1850831;19773279;20930146;24454290;24714562;31530632;32822477;7929580", "class_list": "", "function": "Connexins, such as GJA10, 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 pattern differs from mouse ortholog, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [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. Involved in tracer coupling between horizontal cells of the retina. May play a role in the regulation of horizontal cell patterning (By similarity)., [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]; Structural, functional, and mechanistic insights uncover the fundamental role of orphan connexin-62 in platelets., [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": "", "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:0007154 cell communication", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q969M2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H693-1", "uniprot_id": "CP095_HUMAN", "mass": 16793.0, "length": 158, "protein_name": "Uncharacterized protein C16orf95", "gene_name": "C16orf95", "organism": "Human", "refseq_name": "uncharacterized protein C16orf95 isoform 2", "refseq_ac": "NP_001182054", "gene_names_uniprotkb": "C16orf95", "gene_names_refseq": "C16orf95", "protein_names_uniprotkb": "Uncharacterized protein C16orf95", "protein_names_refseq": "uncharacterized protein C16orf95 isoform 2; uncharacterized protein C16orf95", "tax_id": 9606, "disease": "", "pathway": " (hsa:100506581)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;30620550;31217245;31844290;32265295", "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": 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": 0.8, "record_id": "Q9H693-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BQT9-1", "uniprot_id": "CSTN3_HUMAN", "mass": 106098.0, "length": 956, "protein_name": "Calsyntenin-3", "gene_name": "CLSTN3", "organism": "Human", "refseq_name": "calsyntenin-3 precursor", "refseq_ac": "NP_055533", "gene_names_uniprotkb": "CLSTN3; CS3; KIAA0726", "gene_names_refseq": "CDHR14; CLSTN3; CSTN3; alcbeta", "protein_names_uniprotkb": "Calsyntenin-3; Alc-beta; Alcadein-beta", "protein_names_refseq": "alc-beta; alcadein beta; cadherin-related family member 14; calsyntenin-3 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:9746)", "pathway_count": 1, "publication_count": 59, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;11237011;12498782;12972431;15037614;16959974;18292551;23481700;23499467;23584533;24029068;24715725;25352602;25502872;25645385;25813380;25892735;26992070;27846572;28467828;28832583;29093164;29242379;29493099;29508533;29557506;29786170;30779550;31154438;31217245;31844290;31848261;32157095;32265295;32350084;32357974;32502341;32897882;32938616;32983136;33091337;33101212;33592498;33912179;33968037;33981976;34433824;34673103;34932366;35051231;35154160;35251023;35561310;35580925;35753632;36284347;36477540", "class_list": "", "function": "Adipose-specific isoform that plays a key role in adaptive thermogenesis. Facilitates the efficient use of stored triglyceride by promoting multilocular morphology of thermogenic adipocytes: acts by inhibiting the activity of CIDEA and CIDEC on lipid droplets, thereby preventing lipid droplet fusion and facilitating lipid utilization. May also participate in adaptive thermogenesis by promoting sympathetic innervation of thermogenic adipose tissue: acts by driving secretion of neurotrophic factor S100B from brown adipocytes, stimulating neurite outgrowth from sympathetic neurons., [UniProtKB, UniProtKB]; Alcadein and amyloid beta-protein precursor regulates FE65-dependent gene transactivation [alcalpha1, alcbeta, alcgamma], [RefSeq, PubMed]; CLSTN3 gene variant associates with obesity risk and contributes to dysfunction in white adipose tissue., [RefSeq, PubMed]; CLSTN3beta enforces adipocyte multilocularity to facilitate lipid utilization., [RefSeq, PubMed]; Postsynaptic adhesion molecule that binds to presynaptic neurexins to mediate both excitatory and inhibitory synapse formation (PubMed:25352602). Promotes synapse development by acting as a cell adhesion molecule at the postsynaptic membrane, which associates with both neurexin-alpha and neurexin-beta proteins at the presynaptic membrane (PubMed:25352602). Regulates the balance between excitatory and inhibitory synapses by inhibiting formation of excitatory parallel-fiber synapses and promoting formation of inhibitory synapses in the same neuron (By similarity). May also be involved in ascorbate (vitamin C) uptake via its interaction with SLC23A2/SVCT2 (PubMed:34673103). Complex formation with APBA2 and APP, stabilizes APP metabolism and enhances APBA2-mediated suppression of beta-APP40 secretion, due to the retardation of intracellular APP maturation (Probable) (PubMed:12972431)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The C-terminal fragment but not full-length Cst-3 accumulated in dystrophic neurites surrounding amyloidbeta plaques in Tg2576 mouse and Alzheimer disease brains., [RefSeq, 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": 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": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A0A3B3IRF8;D3DUT6;O94831;Q2T9J5;Q5UE57", "ec_number_list": "", "go_molecular_function": "GO:0004857 enzyme inhibitor activity;GO:0005509 calcium ion binding;GO:0098632 cell-cell adhesion mediator activity;GO:0042043 neurexin family protein binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0044232 organelle membrane contact site;GO:0000139 Golgi membrane;GO:0005811 lipid droplet", "go_biological_process": "GO:0097490 sympathetic neuron projection extension;GO:0010888 negative regulation of lipid storage;GO:1904861 excitatory synapse assembly;GO:0051965 positive regulation of synapse assembly;GO:0051963 regulation of synapse assembly", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q9BQT9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P08174-1", "uniprot_id": "DAF_HUMAN", "mass": 41400.0, "length": 381, "protein_name": "Complement decay-accelerating factor", "gene_name": "CD55", "organism": "Human", "refseq_name": "complement decay-accelerating factor isoform 1 preproprotein", "refseq_ac": "NP_000565", "gene_names_uniprotkb": "CD55; CR; DAF", "gene_names_refseq": "CD55; CHAPLE; CROM; CR; DAF; TC", "protein_names_uniprotkb": "Complement decay-accelerating factor", "protein_names_refseq": "CD55 antigen; CD55 molecule, decay accelerating factor for complement (Cromer blood group); Cromer blood group antigen; Rh blood group D antigen; complement decay-accelerating factor isoform 1 preproprotein; complement decay-accelerating factor", "tax_id": 9606, "disease": "atrioventricular septal defect (Disease Ontology:DOID:0050651); atrial heart septal defect 2 (Disease Ontology:DOID:0110107); prostate cancer (Disease Ontology:DOID:10283); protein-losing enteropathy (Disease Ontology:DOID:10611); breast cancer (Disease Ontology:DOID:1612); ventricular septal defect (Disease Ontology:DOID:1657); congenital heart disease (Disease Ontology:DOID:1682); atrial heart septal defect (Disease Ontology:DOID:1882); endometrial adenocarcinoma (Disease Ontology:DOID:2870); congenital diaphragmatic hernia (Disease Ontology:DOID:3827); cervical cancer (Disease Ontology:DOID:4362); proteinuria (Disease Ontology:DOID:576); myocardial infarction (Disease Ontology:DOID:5844); tetralogy of Fallot (Disease Ontology:DOID:6419); pulmonary hypertension (Disease Ontology:DOID:6432); neuroblastoma (Disease Ontology:DOID:769)", "pathway": " (hsa:1604); (R-HSA-373080); (R-HSA-6798695); (R-HSA-6807878); (R-HSA-977606)", "pathway_count": 5, "publication_count": 245, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10052452;10097073;10318838;10445031;10531307;10559959;1067618;10679020;10761932;10903204;10921873;11035033;11172815;11237011;11285137;11297558;11306556;11461920;11689559;11694537;11703931;11726511;11748249;11939578;12047556;12055245;12070132;12098667;12388752;12409401;12499389;12559132;12634853;12672958;12675719;1377029;1386357;14654841;14734808;14742712;15037235;15498814;15616190;15632110;15728195;15813748;15878873;16030262;16079145;16192651;1631136;16503113;16602827;16633337;16723730;1680566;16912714;16926190;16940185;16999828;1711208;1712233;17182573;1720702;17253781;17274799;17360540;17429068;17451557;17505110;17760859;17804498;17924679;17927562;17956946;18086915;18182008;1824699;18283113;18524849;18801728;18809720;1898986;19015319;19109418;19159218;19164740;19296914;1957170;19631211;19758564;20068231;20357002;20427317;20637885;20966082;21219331;21689688;21788512;21844168;22013193;22094269;22304919;22802338;23090970;23487775;23584533;23650620;23839779;24119662;24190977;2420889;2428813;2433596;2436222;2465906;2466593;24806965;2481448;24958902;25436559;25492864;25576301;25645385;25813380;26154972;26207632;27114449;28510447;28657829;28657861;28904123;293688;293746;29557506;2956252;2971659;29741879;301546;30484775;31373491;31611695;31844290;32157095;32161166;32350084;32357974;32387766;32897882;32938616;32983136;33141586;33214551;33298915;33592498;33912179;33936100;33968037;34019948;34185709;34357683;34433824;35051231;35083852;35138101;35318648;35580925;36010968;3616618;36215666;36241641;36284347;37074911;37565818;3848661;38853277;39435487;4098172;6214588;6219696;6222381;6230668;6238120;6334079;6454142;6607952;670886;6906228;6950381;702059;7391570;7517044;7519480;7525274;7538177;7542572;760802;761607;7690834;7691276;7691959;7797535;8001155;8082781;8128252;8132710;8198617;8221884;8253837;8345200;8386612;8397094;8495193;8505331;8557170;8612563;8620540;8636227;8692836;8732687;8764022;8770894;8786315;8906787;8991093;9038722;9064337;9114004;9150144;9151867;9177194;9244307;9288971;9323141;9380700;9382863;9405360;9490716;9671725;9751720;978134;9990005", "class_list": "", "function": "(Microbial infection) Acts as a receptor for Coxsackievirus A21, coxsackieviruses B1, B3 and B5., [UniProtKB, PubMed]; (Microbial infection) Acts as a receptor for Human echoviruses 6, 7, 11, 12, 20 and 21., [UniProtKB, PubMed, PubMed]; (Microbial infection) Acts as a receptor for Human enterovirus 70 and D68 (Probable)., [UniProtKB, PubMed]; Cell surface CD55 traffics to the nucleus leading to cisplatin resistance and stemness by inducing PRC2 and H3K27 trimethylation on chromatin in ovarian cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Polycythemia as an Uncommon Finding in 2 Children, One With Systemic Capillary Leak Syndrome and the Other With Protein-losing Enteropathy Caused by CD55 Deficiency., [RefSeq, PubMed]; SARS-CoV-2 hijacks host CD55, CD59 and factor H to impair antibody-dependent complement-mediated lysis., [RefSeq, PubMed]; This gene encodes a glycoprotein involved in the regulation of the complement cascade. Binding of the encoded protein to complement proteins accelerates their decay, thereby disrupting the cascade and preventing damage to host cells. Antigens present on this protein constitute the Cromer blood group system (CROM). Alternative splicing results in multiple transcript variants. The predominant transcript variant encodes a membrane-bound protein, but alternatively spliced transcripts may produce soluble proteins. [provided by RefSeq, Jul 2014]., [RefSeq]; This protein recognizes C4b and C3b fragments that condense with cell-surface hydroxyl or amino groups when nascent C4b and C3b are locally generated during C4 and c3 activation. Interaction of daf with cell-associated C4b and C3b polypeptides interferes with their ability to catalyze the conversion of C2 and factor B to enzymatically active C2a and Bb and thereby prevents the formation of C4b2a and C3bBb, the amplification convertases of the complement cascade (PubMed:7525274). Inhibits complement activation by destabilizing and preventing the formation of C3 and C5 convertases, which prevents complement damage (PubMed:28657829)., [UniProtKB, PubMed, PubMed, 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": 1, "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": 2, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 15, "disease_count": 16, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B1AP14;D3DT83;D3DT84;E7ER69;P09679;P78361;Q14UF2;Q14UF3;Q14UF4;Q14UF5;Q14UF6", "ec_number_list": "", "go_molecular_function": "GO:0008289 lipid binding;GO:0001618 virus receptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0045121 membrane raft", "go_biological_process": "GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0045087 innate immune response;GO:0002726 positive regulation of T cell cytokine production;GO:0045916 negative regulation of complement activation;GO:0006958 complement activation, classical pathway", "synthesized_glycan_count": 0, "hit_score": 27.0, "record_id": "P08174-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43820-1", "uniprot_id": "HYAL3_HUMAN", "mass": 46501.0, "length": 417, "protein_name": "Hyaluronidase-3", "gene_name": "HYAL3", "organism": "Human", "refseq_name": "hyaluronidase-3 isoform 1 precursor", "refseq_ac": "NP_001186958", "gene_names_uniprotkb": "HYAL3; LUCA3", "gene_names_refseq": "HYAL-3; HYAL3; LUCA-3; LUCA3", "protein_names_uniprotkb": "Hyaluronidase-3; 3.2.1.35; Hyal-3; Hyaluronoglucosaminidase-3; LuCa-3; Lung carcinoma protein 3", "protein_names_refseq": "hyaluronidase-3 isoform 1 precursor; hyaluronoglucosaminidase 3; lung carcinoma protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:8372); (R-HSA-2024101); (R-HSA-2160916)", "pathway_count": 3, "publication_count": 51, "publication_id_list": "10.1101/2023.09.13.557529;10339581;10493834;11237011;11350981;11568288;12084718;12888274;14514708;15035633;15090545;15503855;15510212;15647514;16104017;17050540;1907800;19224584;1928092;1946389;19889881;20586096;2122463;21699545;23509262;25138066;26992070;28832583;29242379;29557506;2971395;3134052;31758257;32161166;32350084;32387766;32938616;34509645;3468507;35051231;35251023;35945500;5822067;738706;7628016;8213840;8282124;8901634;9223416;9521684;9712871", "class_list": "glycogene;glycosylhydrolase", "function": "Alternative mRNA splicing controls cellular expression of enzymatically active hyaluronidase., [RefSeq, PubMed]; Expression and activity of hyaluronidases HYAL-1, HYAL-2 and HYAL-3 in the human intervertebral disc., [RefSeq, PubMed]; Facilitates sperm penetration into the layer of cumulus cells surrounding the egg by digesting hyaluronic acid. Involved in induction of the acrosome reaction in the sperm. Involved in follicular atresia, the breakdown of immature ovarian follicles that are not selected to ovulate. Induces ovarian granulosa cell apoptosis, possibly via apoptotic signaling pathway involving CASP8 and CASP3 activation, and poly(ADP-ribose) polymerase (PARP) cleavage. Has no hyaluronidase activity in embryonic fibroblasts in vitro. Has no hyaluronidase activity in granulosa cells in vitro., [UniProtKB, UniProtKB]; HYAL3 as a potential novel marker of BLCA patient prognosis. Publication Status: Online-Only, [RefSeq, PubMed]; The relative expression of hyalurosome (CD44, HAS3, HB-EGF) genes was found to be reduced in patients prior to topical treatment and to be notably increased following treatment., [RefSeq, PubMed]; This gene encodes a member of the hyaluronidase family. Hyaluronidases are endoglycosidase enzymes that degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. The regulated turnover of hyaluronan plays a critical role in many biological processes including cell proliferation, migration and differentiation. The encoded protein may also play an important role in sperm function. This gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression, and the expression of specific transcript variants may be indicative of tumor status. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and some isoforms may lack hyaluronidase activity. This gene overlaps and is on the same strand as N-acetyltransferase 6 (GCN5-related), and some transcripts of each gene share a portion of the first exon. [provided by RefSeq, Jan 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": 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": 478, "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": "O60540;Q8NFK2;Q8NFK3;Q8NFK4;Q96E56;Q9BRW9", "ec_number_list": "3.2.1.35", "go_molecular_function": "GO:0004415 hyalurononglucosaminidase activity;GO:0033906 hyaluronoglucuronidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005769 early endosome;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0005764 lysosome", "go_biological_process": "GO:0071493 cellular response to UV-B;GO:2000355 negative regulation of ovarian follicle development;GO:0006954 inflammatory response;GO:0005975 carbohydrate metabolic process;GO:0009615 response to virus", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "O43820-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95196-1", "uniprot_id": "CSPG5_HUMAN", "mass": 60016.0, "length": 566, "protein_name": "Chondroitin sulfate proteoglycan 5", "gene_name": "CSPG5", "organism": "Human", "refseq_name": "chondroitin sulfate proteoglycan 5 isoform 4 precursor", "refseq_ac": "NP_001193873", "gene_names_uniprotkb": "CSPG5; CALEB; NGC", "gene_names_refseq": "CSPG5; NGC", "protein_names_uniprotkb": "Chondroitin sulfate proteoglycan 5; Acidic leucine-rich EGF-like domain-containing brain protein; Neuroglycan C", "protein_names_refseq": "acidic leucine-rich EGF-like domain-containing brain protein; chondroitin sulfate proteoglycan 5 (neuroglycan C); chondroitin sulfate proteoglycan 5 isoform 4 precursor", "tax_id": 9606, "disease": "nicotine dependence (Disease Ontology:DOID:0050742); 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); drug dependence (Disease Ontology:DOID:9974); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:10675); (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)", "pathway_count": 11, "publication_count": 97, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10187838;10339581;10473568;10506123;10781596;10781601;10842173;10963998;11056388;11099377;11139592;11237011;11414686;11470797;11514575;11551958;11568288;11788602;11877387;12080076;12145278;12163485;12512856;12522689;12556911;12761225;12874280;12885772;12888274;12907687;14993226;15211654;15215498;15294915;15358134;15461586;15647514;16299773;16505484;16901907;17194707;17227754;18316376;18513679;18698629;1907800;19188366;19224584;1928092;19367581;1946389;19473117;19661164;19889881;20004762;20533528;20691685;20830804;21129727;21129728;2122463;21763480;22810237;23234360;23584533;23656592;23664117;23664118;23704329;24425863;24443026;24715725;25326458;25521717;27599773;28832583;29514872;2971395;3134052;32653642;3468507;35051231;37217939;37453717;5822067;738706;7628016;8213840;9223416;9506957;9521684;9823490;9883891;9892646;9950058", "class_list": "glycogene", "function": "Chondroitin sulfate proteoglycan-5 forms perisynaptic matrix assemblies in the adult rat cortex., [RefSeq, PubMed]; May function as a growth and differentiation factor involved in neuritogenesis. May induce ERBB3 activation., [UniProtKB, PubMed]; NGC IV, which was first found in the present study, had the shortest cytoplasmic domain among the four variants, [RefSeq, PubMed]; Neuroglycan C is a novel component of midkine receptors involved in process elongation, [RefSeq, PubMed]; Results suggest that NGC may be a novel candidate gene, and neuregulin signaling pathways may play an important role in schizophrenia GeneRIF: Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]; The protein encoded by this gene is a proteoglycan that may function as a neural growth and differentiation factor. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]., [RefSeq]", "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": 2, "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": 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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 675, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 7, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "Q71M39;Q71M40", "ec_number_list": "", "go_molecular_function": "GO:0008083 growth factor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0007399 nervous system development;GO:0007010 cytoskeleton organization;GO:1900026 positive regulation of substrate adhesion-dependent cell spreading;GO:0046907 intracellular transport;GO:0031103 axon regeneration", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "O95196-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O15528-1", "uniprot_id": "CP27B_HUMAN", "mass": 56504.0, "length": 508, "protein_name": "25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial", "gene_name": "CYP27B1", "organism": "Human", "refseq_name": "25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial", "refseq_ac": "NP_000776", "gene_names_uniprotkb": "CYP27B1; CYP1ALPHA; CYP27B", "gene_names_refseq": "CP2B; CYP1alpha; CYP1; CYP27B1; CYP27B; P450c1; PDDR; VDD1; VDDRI; VDDR", "protein_names_uniprotkb": "25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial; 1.14.15.18; 25-OHD-1 alpha-hydroxylase; 25-hydroxyvitamin D(3) 1-alpha-hydroxylase; Calcidiol 1-monooxygenase; Cytochrome P450 subfamily XXVIIB polypeptide 1; Cytochrome P450C1 alpha; Cytochrome P450VD1-alpha; Cytochrome p450 27B1; VD3 1A hydroxylase", "protein_names_refseq": "1alpha(OH)ase; 25 hydroxyvitamin D3-1-alpha hydroxylase; 25-OHD-1 alpha-hydroxylase; 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial; VD3 1A hydroxylase; calcidiol 1-monooxygenase; cytochrome P450 subfamily XXVIIB polypeptide 1; cytochrome P450, family 27, subfamily B, polypeptide 1; cytochrome P450C1 alpha; cytochrome P450VD1-alpha; cytochrome p450 27B1", "tax_id": 9606, "disease": "lacrimoauriculodentodigital syndrome 1 (Disease Ontology:DOID:0050331); developmental and epileptic encephalopathy 47 (Disease Ontology:DOID:0080425); childhood-onset asthma (Disease Ontology:DOID:0080815); vitamin D-dependent rickets type 1A (Disease Ontology:DOID:0080886); lacrimoauriculodentodigital syndrome 3 (Disease Ontology:DOID:0081372); aplasia of lacrimal and salivary glands (Disease Ontology:DOID:0111549); intestinal atresia (Disease Ontology:DOID:10486); pre-eclampsia (Disease Ontology:DOID:10591); rickets (Disease Ontology:DOID:10609); hypospadias (Disease Ontology:DOID:10892); gestational diabetes (Disease Ontology:DOID:11714); alcohol use disorder (Disease Ontology:DOID:1574); hepatitis B (Disease Ontology:DOID:2043); nephrosis (Disease Ontology:DOID:2527); asthma (Disease Ontology:DOID:2841); pulmonary tuberculosis (Disease Ontology:DOID:2957); acute kidney failure (Disease Ontology:DOID:3021); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); Wilson disease (Disease Ontology:DOID:893); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:1594); (R-HSA-196791); (R-HSA-211916); (R-HSA-5579014)", "pathway_count": 4, "publication_count": 64, "publication_id_list": "10052453;10320521;10518789;10566658;10823918;11012668;11085925;11234559;11237011;11717447;11799400;11856765;12050193;12227689;12496369;12855575;12867411;14532297;15465040;15647825;15728261;17646648;19473635;21503197;21595846;21849106;22564762;22862690;22877430;22879719;22918710;23481700;23857223;24101867;24569127;24715725;25363733;26434738;26748501;27250744;27913313;28005175;28206978;28841848;29557506;32983136;33392160;35051231;36321535;36326421;36524979;37244301;38876405;7768901;8506296;8679605;8706697;9344864;9415400;9428799;9486994;9716180;9821970;9837822", "class_list": "", "function": "A cytochrome P450 monooxygenase involved in vitamin D metabolism and in calcium and phosphorus homeostasis. Catalyzes the rate-limiting step in the activation of vitamin D in the kidney, namely the hydroxylation of 25-hydroxyvitamin D3/calcidiol at the C1alpha-position to form the hormonally active form of vitamin D3, 1alpha,25-dihydroxyvitamin D3/calcitriol that acts via the vitamin D receptor (VDR) (PubMed:10518789, PubMed:10566658, PubMed:12050193, PubMed:22862690, PubMed:9486994). Has 1alpha-hydroxylase activity on vitamin D intermediates of the CYP24A1-mediated inactivation pathway (PubMed:10518789, PubMed:22862690). Converts 24R,25-dihydroxyvitamin D3/secalciferol to 1-alpha,24,25-trihydroxyvitamin D3, an active ligand of VDR. Also active on 25-hydroxyvitamin D2 (PubMed:10518789). 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 FDXR/adrenodoxin reductase and FDX1/adrenodoxin (PubMed:22862690)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Association of CYP27B1 gene polymorphisms with pulmonary tuberculosis and vitamin D levels., [RefSeq, PubMed]; Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by CYP27B1 mutation in resource limited countries. Publication Status: Online-Only, [RefSeq, PubMed]; Genotype-phenotype Description of Vitamin D-dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease., [RefSeq, PubMed]; Local production of active vitamin D3 metabolites in breast cancer cells by CYP24A1 and CYP27B1., [RefSeq, PubMed]; The role of vitamin D-synthesizing enzyme CYP27B1 in systemic lupus erythematosus., [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 protein encoded by this gene localizes to the inner mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3 at the 1alpha position. This reaction synthesizes 1alpha,25-dihydroxyvitamin D3, the active form of vitamin D3, which binds to the vitamin D receptor and regulates calcium metabolism. Thus this enzyme regulates the level of biologically active vitamin D and plays an important role in calcium homeostasis. Mutations in this gene can result in vitamin D-dependent rickets type I. [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 21, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2RC61;Q548T3", "ec_number_list": "1.14.15.18", "go_molecular_function": "GO:0005506 iron ion binding;GO:0020037 heme binding;GO:0004498 calcidiol 1-monooxygenase activity;GO:0062185 secalciferol 1-monooxygenase activity;GO:0004497 monooxygenase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane", "go_biological_process": "GO:0006766 vitamin metabolic process;GO:0042359 vitamin D metabolic process;GO:0042369 vitamin D catabolic process;GO:0008285 negative regulation of cell population proliferation;GO:0032496 response to lipopolysaccharide", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "O15528-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96NX9-1", "uniprot_id": "DACH2_HUMAN", "mass": 65323.0, "length": 599, "protein_name": "Dachshund homolog 2", "gene_name": "DACH2", "organism": "Human", "refseq_name": "dachshund homolog 2 isoform b", "refseq_ac": "NP_001132986", "gene_names_uniprotkb": "DACH2", "gene_names_refseq": "DACH2", "protein_names_uniprotkb": "Dachshund homolog 2; Dach2", "protein_names_refseq": "dachshund homolog 2 isoform b; dachshund homolog 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:117154)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;12438735;15459172;19913121;20628086;25234129;25744029;29557506;31844290;32387766;33392160;34019948", "class_list": "", "function": "DACH2 is an independent prognostic marker that can be used at initial diagnosis of urothelial carcinoma of the bladder to identify patients who have a high potential to develop metastasis., [RefSeq, PubMed]; Exome sequencing in two brothers with distinct phenotype including congenital language disorder, growth retardation, intellectual disability and urinary and fecal incontinence, identifies missense mutations in ABCD1 and DACH2. Publication Status: Online-Only, [RefSeq, PubMed]; Most X;autosome translocations associated with premature ovarian failure do not interrupt X-linked genes. Only one of the six breakpoints disrupts a gene, DACH2., [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, PubMed]; This gene is one of two genes which encode a protein similar to the Drosophila protein dachshund, a transcription factor involved in cell fate determination in the eye, limb and genital disc of the fly. The encoded protein contains two characteristic dachshund domains: an N-terminal domain responsible for DNA binding and a C-terminal domain responsible for protein-protein interactions. This gene is located on the X chromosome and is subject to inactivation by DNA methylation. The encoded protein may be involved in regulation of organogenesis and myogenesis, and may play a role in premature ovarian failure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]., [RefSeq]; Transcription factor that is involved in regulation of organogenesis. Seems to be a regulator for SIX1 and SIX6. Seems to act as a corepressor of SIX6 in regulating proliferation by directly repressing cyclin-dependent kinase inhibitors, including the p27Kip1 promoter. Is recruited with SIX6 to the p27Kip1 promoter in embryonal retina. SIX6 corepression also seems to involve NCOR1, TBL1, HDAC1 and HDAC3. May be involved together with PAX3, SIX1, and EYA2 in regulation of myogenesis. In the developing somite, expression of DACH2 and PAX3 is regulated by the overlying ectoderm, and DACH2 and PAX3 positively regulate each other's expression (By similarity). Probably binds to DNA via its DACHbox-N domain., [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": 17, "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": "B1AJV3;B4DQG3;Q8NAY3;Q8ND17;Q96N55", "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:0005667 transcription regulator complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q96NX9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y5U9-1", "uniprot_id": "IR3IP_HUMAN", "mass": 8969.0, "length": 82, "protein_name": "Immediate early response 3-interacting protein 1", "gene_name": "IER3IP1", "organism": "Human", "refseq_name": "immediate early response 3-interacting protein 1", "refseq_ac": "NP_057181", "gene_names_uniprotkb": "IER3IP1; HSPC039", "gene_names_refseq": "HSPC039; IER3IP1; MEDS; PRO2309", "protein_names_uniprotkb": "Immediate early response 3-interacting protein 1", "protein_names_refseq": "immediate early response 3-interacting protein 1", "tax_id": 9606, "disease": "microcephaly, epilepsy, and diabetes syndrome 1 (MONDO:MONDO:0031481)", "pathway": " (hsa:51124)", "pathway_count": 1, "publication_count": 62, "publication_id_list": "10931946;11230166;11237011;15276200;18476594;19885854;19951536;20068231;21835305;22424782;22991235;23481700;23783831;24138066;24715725;25418920;25576301;26154972;26375851;26929215;26992070;27846572;28228285;28446606;28832583;28834231;28904123;29331515;29493099;29508533;29557506;29632711;29786170;29789417;30315122;31092671;31154438;31844290;31998317;32157095;32357974;32387766;32502341;32897882;32938616;32983136;33122427;33298915;33537174;33691108;33717175;33912179;33936100;33968037;34357683;34405274;34509645;35051231;35580925;36010968;37934820;37938771", "class_list": "", "function": "A human tissue screen identifies a regulator of ER secretion as a brain-size determinant., [RefSeq, PubMed]; Essential requirement for IER3IP1 in B cell development., [RefSeq, PubMed]; IER3IP1 gene expression is regulated by Sp1, Sp3, and the TNF-a; induction of the gene in HepG2 liver cancer cell line, [RefSeq, PubMed]; IER3IP1 gene was mapped to chromosome 18q12 and showed a high expression in heart, skeletal muscle and kidney, a moderate expression in liver and brain and a low expression in placenta, lung and peripheral blood leukocyte., [RefSeq, PubMed]; Inhibiting the expression of IER3IP1 can inhibit erythroid differentiation and elevate the proliferation of K562 cells., [RefSeq, PubMed]; Matrine can inhibit the growth of K562 cells, and transiently increase the expression level of IER3IP1 gene in a dose-dependent manner., [RefSeq, PubMed]; Regulator of endoplasmic reticulum secretion that acts as a key determinant of brain size (PubMed:33122427). Required for secretion of extracellular matrix proteins (PubMed:33122427). Required for correct brain development by depositing sufficient extracellular matrix proteins for tissue integrity and the proliferation of neural progenitors (PubMed:33122427). Acts as a regulator of the unfolded protein response (UPR) (By similarity)., [UniProtKB, UniProtKB, PubMed]; Regulator of endoplasmic reticulum secretion that acts as a key determinant of brain size. Required for secretion of extracellular matrix proteins. Required for correct brain development by depositing sufficient extracellular matrix proteins for tissue integrity and the proliferation of neural progenitors. Acts as a regulator of the unfolded protein response (UPR)., [UniProtKB, UniProtKB]; This gene encodes a small protein that is localized to the endoplasmic reticulum (ER) and may play a role in the ER stress response by mediating cell differentiation and apoptosis. Transcription of this gene is regulated by tumor necrosis factor alpha and specificity protein 1 (Sp1). Mutations in this gene may play a role in microcephaly, epilepsy, and diabetes syndrome (MEDS), and a pseudogene of this gene is located on the long arm of chromosome 12. [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": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "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:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0030134 COPII-coated ER to Golgi transport vesicle;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:2000269 regulation of fibroblast apoptotic process;GO:0015031 protein transport;GO:0050714 positive regulation of protein secretion;GO:0007420 brain development;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q9Y5U9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P61803-1", "uniprot_id": "DAD1_HUMAN", "mass": 12497.0, "length": 113, "protein_name": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit DAD1", "gene_name": "DAD1", "organism": "Human", "refseq_name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit DAD1", "refseq_ac": "NP_001335", "gene_names_uniprotkb": "DAD1", "gene_names_refseq": "DAD1; OST2", "protein_names_uniprotkb": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit DAD1; DAD-1; Defender against cell death 1; Oligosaccharyl transferase subunit DAD1", "protein_names_refseq": "DAD-1; dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit DAD1; oligosaccharyl transferase subunit DAD1; oligosaccharyltransferase 2 homolog; oligosaccharyltransferase subunit 2 (non-catalytic)", "tax_id": 9606, "disease": "myelodysplastic syndrome (Disease Ontology:DOID:0050908); immunodeficiency 21 (Disease Ontology:DOID:0111947); pre-eclampsia (Disease Ontology:DOID:10591); aplastic anemia (Disease Ontology:DOID:12449); depressive disorder (Disease Ontology:DOID:1596); clear cell renal cell carcinoma (Disease Ontology:DOID:4467); myeloid leukemia (Disease Ontology:DOID:8692); acute myeloid leukemia (Disease Ontology:DOID:9119)", "pathway": " (hsa:1603); (R-HSA-446203); (R-HSA-9694548); (R-HSA-9768727); (R-HSA-9918432); (R-HSA-9931295)", "pathway_count": 6, "publication_count": 128, "publication_id_list": "10228156;11237011;11470266;12089159;12171918;12665801;12678917;12893276;14514716;14688233;16317064;17261850;18491227;19835842;20068231;20798515;22223895;22375065;22467853;22915798;23481700;24112972;24681004;24966173;25135935;25489052;25576301;25645385;25810538;25892735;26154972;26208004;26375851;26416966;26992070;27086042;27255086;27383988;27397612;27572267;27600516;27846572;27862975;28063628;28228285;28228593;2834401;28512129;28514659;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29632046;29632711;29765039;29769354;29786170;29789417;30032071;30118680;30315122;30429286;30484775;30524438;30833945;31154438;31217245;31305264;31831667;31844290;31848261;31998317;32157095;32161166;32350084;32363391;32366695;32387766;32488085;32502341;32518941;32676595;32938616;32983136;33091337;33214551;33298915;33310888;33592498;33717175;33912179;33936100;33968037;34117209;34171305;34211107;34357683;34428449;34528721;34561969;34599882;34725712;34932366;34961524;35051231;35215835;35318648;35580925;36010968;36215666;36241641;36284347;36581221;36697828;36719382;37938771;38665916;38670073;38793607;6156677;7072193;7982500;7986008;8413235", "class_list": "glycogene;glycosyltransferase", "function": "DAD1, the defender against apoptotic cell death, was initially identified as a negative regulator of programmed cell death in the temperature sensitive tsBN7 cell line. The DAD1 protein disappeared in temperature-sensitive cells following a shift to the nonpermissive temperature, suggesting that loss of the DAD1 protein triggered apoptosis. DAD1 is believed to be a tightly associated subunit of oligosaccharyltransferase both in the intact membrane and in the purified enzyme, thus reflecting the essential nature of N-linked glycosylation in eukaryotes. [provided by RefSeq, Jul 2008]., [RefSeq]; Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB]; This study shows that abnormal expression of DAD1 may relate to the hyperfunction of immune responses and excessive apoptosis of severe aplastic anemia CD34(+) cells, [RefSeq, PubMed]; Variants in both the DAD1 and OXA1L genes may affect atopy and asthma in a Latin American population with a high prevalence of asthma., [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": 122, "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": "D3DS25;O08552;O70364;P46966;P46968;Q6FGA3;Q96GB7", "ec_number_list": "", "go_molecular_function": "GO:0008047 enzyme activator activity", "go_cellular_component": "GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0008250 oligosaccharyltransferase complex;GO:0160226 oligosaccharyltransferase complex A;GO:0160227 oligosaccharyltransferase complex B", "go_biological_process": "GO:0043066 negative regulation of apoptotic process;GO:0006915 apoptotic process;GO:0009101 glycoprotein biosynthetic process;GO:0031647 regulation of protein stability;GO:0006487 protein N-linked glycosylation", "synthesized_glycan_count": 0, "hit_score": 13.1, "record_id": "P61803-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q69YQ0-1", "uniprot_id": "CYTSA_HUMAN", "mass": 124544.0, "length": 1117, "protein_name": "Cytospin-A", "gene_name": "SPECC1L", "organism": "Human", "refseq_name": "cytospin-A isoform 1", "refseq_ac": "NP_001138940", "gene_names_uniprotkb": "SPECC1L; CYTSA; KIAA0376", "gene_names_refseq": "CYTSA; GBBB2; OBLFC1; SPECC1L; TBHS1; TBHS", "protein_names_uniprotkb": "Cytospin-A; Renal carcinoma antigen NY-REN-22; SPECC1-like protein; Sperm antigen with calponin homology and coiled-coil domains 1-like", "protein_names_refseq": "SPECC1-like protein; cytokinesis and spindle organization A; cytospin-A isoform 1; cytospin-A; renal carcinoma antigen NY-REN-22", "tax_id": 9606, "disease": "orofacial cleft (Disease Ontology:DOID:0050567); Teebi hypertelorism syndrome 1 (Disease Ontology:DOID:0080698); Teebi hypertelorism syndrome (Disease Ontology:DOID:0081073); oblique facial clefting 1 (Disease Ontology:DOID:0111706); cleft palate (Disease Ontology:DOID:674)", "pathway": " (hsa:23384)", "pathway_count": 1, "publication_count": 55, "publication_id_list": "10508479;11237011;18220336;18477386;18669648;21703590;22238572;22299025;22869377;23186163;23481700;24275569;25412741;25576301;25645385;25892735;26111080;26375851;26728094;27600516;27920218;28218747;28228285;28832583;28834231;28855257;29242379;29508533;29632046;29632711;29769354;29786170;29789417;30315122;30379171;30779550;30833945;31154438;31222486;31530632;31848261;31937595;31998317;32161166;34185709;35205294;35254053;35494241;36284347;36412101;36581221;36634848;37345651;37938771;38942763", "class_list": "", "function": "BCL6-SPECC1L: A Novel Fusion Gene in Nasopharyngeal Carcinoma., [RefSeq, PubMed]; Changes in expression of VGF, SPECC1L, HLA-DRA and RANBP3L act with APOE E4 to alter risk for late onset Alzheimer's disease. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in cytokinesis and spindle organization. May play a role in actin cytoskeleton organization and microtubule stabilization and hence required for proper cell adhesion and migration., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; SPECC1L Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; SPECC1L binds the myosin phosphatase complex MYPT1/PP1beta and can regulate its distribution between microtubules and filamentous actin., [RefSeq, PubMed]; SPECC1L functions in actin-cytoskeleton reorganization and is required for proper facial morphogenesis., [RefSeq, PubMed]; SPECC1L: a cytoskeletal protein that regulates embryonic tissue dynamics., [RefSeq, PubMed]; The authors use rapid amplification of cDNA ends, tiling arrays, and deep RNA sequencing to identify chimeric transcripts on human chromosomes 21 and 22. They found that for 492 protein coding genes studied, 85% of these genes had boundaries that extended beyond the current annotated termini., [RefSeq, PubMed]; This gene encodes a coiled-coil domain containing protein. The encoded protein may play a critical role in actin-cytoskeletal reorganization during facial morphogenesis. Mutations in this gene are a cause of oblique facial clefting-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A read-through transcript composed of SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and the downstream ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 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": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B7Z758;F5H1H6;O15081", "ec_number_list": "", "go_molecular_function": "GO:0008013 beta-catenin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005819 spindle;GO:0015629 actin cytoskeleton;GO:0005815 microtubule organizing center;GO:0031941 filamentous actin", "go_biological_process": "GO:0007155 cell adhesion;GO:0051301 cell division;GO:0030036 actin cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q69YQ0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P32302-1", "uniprot_id": "CXCR5_HUMAN", "mass": 41955.0, "length": 372, "protein_name": "C-X-C chemokine receptor type 5", "gene_name": "CXCR5", "organism": "Human", "refseq_name": "C-X-C chemokine receptor type 5 isoform 1", "refseq_ac": "NP_001707", "gene_names_uniprotkb": "CXCR5; BLR1; MDR15", "gene_names_refseq": "BLR1; CD185; CXCR5; MDR15", "protein_names_uniprotkb": "C-X-C chemokine receptor type 5; Burkitt lymphoma receptor 1; CXC-R5; CXCR-5; MDR-15; Monocyte-derived receptor 15", "protein_names_refseq": "Burkitt lymphoma receptor 1, GTP binding protein (chemokine (C-X-C motif) receptor 5); Burkitt lymphoma receptor 1, GTP-binding protein; C-X-C chemokine receptor type 5 isoform 1; C-X-C chemokine receptor type 5; CXC-R5; CXCR-5; MDR-15; monocyte-derived receptor 15", "tax_id": 9606, "disease": "", "pathway": " (hsa:643); (R-HSA-380108); (R-HSA-418594)", "pathway_count": 3, "publication_count": 73, "publication_id_list": "10229797;10640743;10706668;10725696;10725697;10781587;11007482;11060282;11688722;12120503;12149255;12554737;12884299;1425907;15067078;15951850;16107333;16634148;16923326;16959974;1744577;1840701;18434541;18577758;1891716;20002784;2078213;2217207;24190977;2423119;2534964;2748346;2834384;28467828;29557506;2970963;3098319;31844290;32350084;3260265;32983136;33691108;33912179;33936100;34357683;35561310;36879107;37382265;37460877;37569326;7602097;7622448;7639692;7642634;7679328;7851893;7875320;7937899;8015379;8048929;8383238;8406495;8639485;8849694;9024663;9164944;9166430;9169459;9207005;9276730;9390561;9463416;9618518", "class_list": "", "function": "CCR9/CXCR5 Co-Expressing CD4 T Cells Are Increased in Primary Sjogren's Syndrome and Are Enriched in PD-1/ICOS-Expressing Effector T Cells. Publication Status: Online-Only, [RefSeq, PubMed]; CXCR5 Regulates Neuronal Polarity Development and Migration in the Embryonic Stage via F-Actin Homeostasis and Results in Epilepsy-Related Behavior., [RefSeq, PubMed]; Circulating DNA methylation level of CXCR5 correlates with inflammation in patients with rheumatoid arthritis., [RefSeq, PubMed]; Cytokine receptor that binds to B-lymphocyte chemoattractant (BLC). Involved in B-cell migration into B-cell follicles of spleen and Peyer patches but not into those of mesenteric or peripheral lymph nodes. May have a regulatory function in Burkitt lymphoma (BL) lymphomagenesis and/or B-cell differentiation., [UniProtKB]; Heterogeneity of circulating CXCR5-PD-1[hi]Tph cells in patients of type 2 and type 1 diabetes in Chinese population., [RefSeq, PubMed]; Structural requirements for the activation of signal transduction pathways by CXCR5, [RefSeq, PubMed]; This gene encodes a multi-pass membrane protein that belongs to the CXC chemokine receptor family. It is expressed in mature B-cells and Burkitt's lymphoma. This cytokine receptor binds to B-lymphocyte chemoattractant (BLC), and is involved in B-cell migration into B-cell follicles of spleen and Peyer patches. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [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": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "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": 10, "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": "Q14811", "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_cellular_component": "GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane", "go_biological_process": "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;GO:0042113 B cell activation", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "P32302-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WWN9-1", "uniprot_id": "ICEF1_HUMAN", "mass": 48993.0, "length": 437, "protein_name": "Interactor protein for cytohesin exchange factors 1", "gene_name": "IPCEF1", "organism": "Human", "refseq_name": "interactor protein for cytohesin exchange factors 1 isoform 1", "refseq_ac": "NP_001124171", "gene_names_uniprotkb": "IPCEF1; KIAA0403", "gene_names_refseq": "IPCEF1; PIP3-E; PIP3E", "protein_names_uniprotkb": "Interactor protein for cytohesin exchange factors 1; Phosphoinositide-binding protein PIP3-E", "protein_names_refseq": "interaction protein for cytohesin exchange factors 1 Interaction protein for cytohesin exchange factors 1; interactor protein for cytohesin exchange factors 1 isoform 1; interactor protein for cytohesin exchange factors 1; phosphoinositide-binding protein PIP3-E", "tax_id": 9606, "disease": "", "pathway": " (hsa:26034)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "11237011;11804589;12920129;17067457;20058876;22085542;23481700;24275569;24366607;24714562;26154972;26375851;26728094;26992070;27846572;27920218;28832583;28904123;29242379;31154438;31530632;32897882;33298915;33717175;33912179;34165176;34509645;34932366;35051231;35580925;36284347", "class_list": "", "function": "CNK3 and IPCEF1 produce a single protein that is required for HGF dependent Arf6 activation and migration., [RefSeq, PubMed]; Circular RNA profiling reveals a potential role of hsa_circ_IPCEF1 in papillary thyroid carcinoma., [RefSeq, PubMed]; Enhances the promotion of guanine-nucleotide exchange by PSCD2 on ARF6 in a concentration-dependent manner., [UniProtKB]; IPCEF1 increases the in vitro and in vivo stimulation of ARFGTP formation by cytohesin 2, [RefSeq, PubMed]; PTEN may down-regulate the expression of PIP3, and then down-regulate the expression of cyclin D1, which leads to the suppression of cell 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A8K1K2;B7ZL78;B7ZL80;G3V132;O43153;Q5HYL8", "ec_number_list": "", "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0004601 peroxidase activity;GO:0005344 oxygen carrier activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:0006979 response to oxidative stress;GO:0007167 enzyme-linked receptor protein signaling pathway;GO:0015671 oxygen transport", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q8WWN9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q03431-1", "uniprot_id": "PTH1R_HUMAN", "mass": 66361.0, "length": 593, "protein_name": "Parathyroid hormone/parathyroid hormone-related peptide receptor", "gene_name": "PTH1R", "organism": "Human", "refseq_name": "parathyroid hormone/parathyroid hormone-related peptide receptor precursor", "refseq_ac": "NP_000307", "gene_names_uniprotkb": "PTH1R; PTHR1; PTHR", "gene_names_refseq": "EKNS; PFE; PTH1R; PTHR1; PTHR", "protein_names_uniprotkb": "Parathyroid hormone/parathyroid hormone-related peptide receptor; PTH/PTHr receptor; PTH/PTHrP type I receptor; PTH1 receptor; Parathyroid hormone 1 receptor", "protein_names_refseq": "PTH/PTHr receptor; PTH/PTHrP type I receptor; PTH1 receptor; parathyroid hormone receptor 1; parathyroid hormone/parathyroid hormone-related peptide receptor precursor; parathyroid hormone/parathyroid hormone-related peptide receptor; parathyroid hormone/parathyroid hormone-related protein receptor; seven transmembrane helix receptor", "tax_id": 9606, "disease": "chondrodysplasia Blomstrand type (Disease Ontology:DOID:0060387); Jansen's metaphyseal chondrodysplasia (Disease Ontology:DOID:0080020); primary failure of tooth eruption (Disease Ontology:DOID:0111341); Eiken syndrome (Disease Ontology:DOID:0111732); hypercalcemia (Disease Ontology:DOID:12678); osteochondrodysplasia (Disease Ontology:DOID:2256)", "pathway": " (hsa:5745); (R-HSA-373080); (R-HSA-418555)", "pathway_count": 3, "publication_count": 105, "publication_id_list": "10097073;10487664;10913300;11007482;11237011;11297558;11773434;11850620;12036966;12058044;12098667;12106601;12180353;12559132;12860470;13549488;14671004;1517224;15240651;15498814;15523647;15525660;15765929;15769620;15951850;16313925;16602827;16687412;16923326;17168849;18044684;18375760;18577758;18611381;18801728;19061984;19105585;19674967;19876791;19929708;20172855;20381629;20966082;21036126;2163110;2417744;24275569;24687066;2491850;2553411;2553705;26417854;27160269;27623777;28376304;2871555;28904123;29443750;29444827;29602314;30833991;30975883;3127824;31279028;31399091;31983287;32226383;32497535;32540603;32618402;32715661;33049737;35051231;35580925;35932760;3616618;37074911;37286611;37480042;37840415;6085243;6950381;7701349;7745008;7797535;8082781;8198617;8340388;8386612;8397094;8514797;8557170;8612563;8672451;8703170;8732687;8770894;8906787;9064337;9178745;9263355;9417641;9651336;9737850;9745456", "class_list": "", "function": "Class B1 GPCR activation by an intracellular agonist., [RefSeq, PubMed]; G protein-coupled receptor for parathyroid hormone (PTH) and for parathyroid hormone-related peptide (PTHLH) (PubMed:10913300, PubMed:18375760, PubMed:19674967, PubMed:27160269, PubMed:30975883, PubMed:35932760, PubMed:8397094). 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 adenylate cyclase (cAMP) (PubMed:30975883, PubMed:35932760). PTH1R is coupled to G(s) G alpha proteins and mediates activation of adenylate cyclase activity (PubMed:20172855, PubMed:30975883, PubMed:35932760). PTHLH dissociates from PTH1R more rapidly than PTH; as consequence, the cAMP response induced by PTHLH decays faster than the response induced by PTH (PubMed:35932760)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; G-protein-coupled receptor for parathyroid hormone (PTH) and for parathyroid hormone-related peptide (PTHLH). 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 adenylate cyclase (cAMP). PTH1R is coupled to G(s) G alpha proteins and mediates activation of adenylate cyclase activity. PTHLH dissociates from PTH1R more rapidly than PTH; as consequence, the cAMP response induced by PTHLH decays faster than the response induced by PTH., [UniProtKB, UniProtKB, UniProtKB]; Identification of a novel PTH1R variant in a family with primary failure of eruption. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of a novel heterozygous PTH1R variant in a Chinese family with incomplete penetrance., [RefSeq, PubMed]; The crystal structure of the ligand-free PTH1R extracellular domain (ECD) reveals a dimer in which the C-terminal segment of both ECD protomers forms an alpha-helix that mimics PTH/PTHrP by occupying the peptide binding groove of the opposing protomer., [RefSeq, PubMed]; The protein encoded by this gene is a member of the G-protein coupled receptor family 2. This protein is a receptor for parathyroid hormone (PTH) and for parathyroid hormone-like hormone (PTHLH). The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system. Defects in this receptor are known to be the cause of Jansen's metaphyseal chondrodysplasia (JMC), chondrodysplasia Blomstrand type (BOCD), as well as enchodromatosis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 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": 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": 11, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 9507, "biomarker_type": "", "glycan_count": 6, "disease_count": 6, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q2M1U3", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0042803 protein homodimerization activity;GO:0017046 peptide hormone binding;GO:0008528 G protein-coupled peptide receptor activity;GO:0004991 parathyroid hormone receptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0043235 receptor complex", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0006874 intracellular calcium ion homeostasis;GO:0007187 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "Q03431-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BRV8-1", "uniprot_id": "SIKE1_HUMAN", "mass": 23721.0, "length": 207, "protein_name": "Suppressor of IKBKE 1", "gene_name": "SIKE1", "organism": "Human", "refseq_name": "suppressor of IKBKE 1 isoform 1", "refseq_ac": "NP_001095866", "gene_names_uniprotkb": "SIKE1; SIKE", "gene_names_refseq": "SIKE1; SIKE", "protein_names_uniprotkb": "Suppressor of IKBKE 1; Suppressor of IKK-epsilon", "protein_names_refseq": "suppressor of IKBKE 1 isoform 1; suppressor of IKK epsilon", "tax_id": 9606, "disease": "", "pathway": " (hsa:80143); (R-HSA-918233); (R-HSA-933541); (R-HSA-9692916); (R-HSA-9705671)", "pathway_count": 5, "publication_count": 156, "publication_id_list": "10082512;10421793;10581243;11073981;11244049;12019269;12133833;12604599;12692549;12759408;14703513;15208624;15361868;16153868;16281057;16306936;16846591;16858409;16914100;17035307;17190786;17270291;17327220;17412287;17525332;17526488;17596301;17761676;19380580;19398035;19479062;19668221;20043992;20627800;21632562;22046132;22253733;22312431;22619329;22941947;23453971;23481700;23483519;23649622;24509444;24622840;24722368;24854014;25135833;25743393;25764917;25907116;26320399;26378163;26992070;27164085;27203180;27249321;27600516;28148787;28832583;28834231;28904123;29242379;29294448;30185776;30379171;30429286;30487159;30524438;30622739;31034780;31154438;31231549;31844290;31850239;31937595;32157095;32350084;32353859;32357974;32387766;32428392;32488085;32502341;32589897;32726803;32728199;32897882;32938616;32953130;32979938;32983136;33024073;33060197;33097660;33110251;33141586;33298915;33349665;33360543;33372174;33372854;33392160;33396605;33440148;33479219;33495715;33514628;33567255;33592498;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33963333;33968037;33981976;33989516;33990585;34021074;34054808;34084167;34087483;34110168;34166398;34171305;34239064;34290717;34341353;34375313;34400613;34439781;34452305;34471099;34502139;34509645;34597346;34932366;35051231;35102342;35561310;35580925;35643212;36010968;37051252;37938771;9463386;9541017;9660935;9822609;9989503", "class_list": "", "function": "Data indicate that suppressor of IKKepsilon (SIKE) inhibits TANK-binding kinase 1 (TBK1)-mediated phosphorylation of interferon regulatory factor 3 (IRF3), which is essential to type I interferon production., [RefSeq, PubMed]; MRNA expression of individual inhibitory kappaB kinases and SIKE are associated with unique prognostic significance and may act as valuable prognostic biomarkers and potential targets for future therapeutic interventions in gastric cancer. Erratum:[Biosci Rep. 2021 Jul 30;41(7):BSR-2018-0617_COR. doi: 10.1042/BSR-2018-0617_COR. PMID: 34196661] Publication Status: Online-Only, [RefSeq, PubMed]; Overexpression of SIKE inhibits virus- and Toll-like receptor 3-triggered interferon-stimulated response elements (ISRE) but not NF-kappa B activation., [RefSeq, PubMed]; Physiological suppressor of IKK-epsilon and TBK1 that plays an inhibitory role in virus- and TLR3-triggered IRF3. Inhibits TLR3-mediated activation of interferon-stimulated response elements (ISRE) and the IFN-beta promoter. May act by disrupting the interactions of IKBKE or TBK1 with TICAM1/TRIF, IRF3 and RIGI. Does not inhibit NF-kappa-B activation pathways (PubMed:16281057). Associates with the striatin-interacting phosphatase and kinase (STRIPAK) core complex, forming the extended (SIKE1:SLMAP)STRIPAK complex (PubMed:30622739). The (SIKE1:SLMAP)STRIPAK complex dephosphorylates STK3 leading to the inhibition of Hippo signaling and the control of cell growth (PubMed:30622739)., [UniProtKB, PubMed, PubMed]; SIKE interacts with IKK-epsilon (IKBKE; MIM 605048) and TBK1 (MIM 604834) and acts as a suppressor of TLR3 (MIM 603029) and virus-triggered interferon activation pathways (Huang et al., 2005 [PubMed 16281057]).[supplied by OMIM, Mar 2008]., [RefSeq]; SIKE, a negative regulator of the interferon pathway, attenuates pathological cardiac hypertrophy. Erratum:[Nat Commun. 2023 May 25;14(1):3018. doi: 10.1038/s41467-023-38331-w. PMID: 37230962] 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": 10, "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": "Q5TEZ7;Q5TEZ9;Q68DZ4;Q9H778", "ec_number_list": "", "go_molecular_function": "GO:0019901 protein kinase binding;GO:0030674 protein-macromolecule adaptor activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005829 cytosol;GO:0090443 FAR/SIN/STRIPAK complex", "go_biological_process": "GO:0035331 negative regulation of hippo signaling", "synthesized_glycan_count": 0, "hit_score": 15.9, "record_id": "Q9BRV8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99932-3", "uniprot_id": "SPAG8_HUMAN", "mass": 51139.0, "length": 485, "protein_name": "Sperm-associated antigen 8", "gene_name": "SPAG8", "organism": "Human", "refseq_name": "sperm-associated antigen 8 isoform 1", "refseq_ac": "NP_001034681", "gene_names_uniprotkb": "SPAG8", "gene_names_refseq": "BS-84; CILD28; CT142; HSD-1; SMP1; SPAG3; SPAG8; hSMP-1", "protein_names_uniprotkb": "Sperm-associated antigen 8; HSD-1; SMP-1; Sperm membrane protein 1; Sperm membrane protein BS-84", "protein_names_refseq": "sperm membrane protein 1; sperm membrane protein BS-84; sperm-associated antigen 8 isoform 1; testicular tissue protein Li 177", "tax_id": 9606, "disease": "", "pathway": " (hsa:26206)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "10500252;15014887;17187156;19548270;20488182;29393594;34087483;36191189;38538594;39894887;8788182", "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 (PubMed:36191189). Plays a role in spermatogenesis by enhancing the binding of CREM isoform tau to its coactivator FHL5 and increasing the FHL5-regulated transcriptional activation of CREM isoform tau (By similarity). Involved in the acrosome reaction and in binding of sperm to the zona pellucida (By similarity). Plays a role in regulation of the cell cycle by controlling progression through the G2/M phase, possibly by delaying the activation of CDK1 which is required for entry into mitosis (PubMed:19548270). May play a role in fertility and microtubule formation through interaction with RANBP9 (PubMed:10500252)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Results indicate that SPAG8 acts as a regulator of ACT and plays an important role in CREM-ACT-mediated gene transcription during spermatogenesis., [RefSeq, PubMed]; The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein encoded by this gene is recognized by sperm agglutinating antibodies from an infertile woman. This protein is localized in germ cells of the testis at all stages of spermatogenesis and is localized to the acrosomal region of mature spermatozoa. This protein interacts with ACT (activator of CREM in testis) and may play a role in CREM (cAMP response element modulator)-ACT-mediated gene transcription during spermatogenesis. This protein may also play a role in spermatogenesis by regulating microtubule formation and cell division. Alternatively spliced variants that encode different protein isoforms have been described but the full-length sequences of only two have been determined. [provided by RefSeq, Jul 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": 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": "B4DY89;E9PDV6;Q12937;Q5TCV8;Q8WWB4", "ec_number_list": "", "go_molecular_function": "GO:0008017 microtubule binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005819 spindle;GO:0005929 cilium;GO:0016020 membrane", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0030317 flagellated sperm motility;GO:0007338 single fertilization", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q99932-3", "record_type": "protein" }, { "uniprot_canonical_ac": "P62308-1", "uniprot_id": "RUXG_HUMAN", "mass": 8496.0, "length": 76, "protein_name": "Small nuclear ribonucleoprotein G", "gene_name": "SNRPG", "organism": "Human", "refseq_name": "small nuclear ribonucleoprotein G isoform a", "refseq_ac": "NP_003087", "gene_names_uniprotkb": "SNRPG; PBSCG", "gene_names_refseq": "SMG; SNRPG; Sm-G", "protein_names_uniprotkb": "Small nuclear ribonucleoprotein G; Sm protein G; Sm-G; SmG; snRNP-G", "protein_names_refseq": "sm protein G; small nuclear ribonucleoprotein G isoform a; small nuclear ribonucleoprotein G; snRNP-G", "tax_id": 9606, "disease": "nasopharynx carcinoma (Disease Ontology:DOID:9261)", "pathway": " (hsa:6637); (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": 227, "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;12165861;12176931;12411573;12414731;12441251;12477934;12682017;12776181;12975319;14519844;14625303;14713954;14749727;14762106;15004565;15037765;15084397;15116427;15146077;15565158;15647753;16075062;16263726;16314458;16314521;16372014;16809785;17095540;17128255;17332742;17433364;17606899;17717186;17940139;18042460;18288197;18322460;18593880;18984161;19052544;19103666;19165350;19217410;19325628;19531498;19536130;19748539;19838190;20112406;20211137;20423332;20695905;20980672;21295486;21516107;21536652;2176635;21816274;21911577;22046413;22110043;22365833;22424782;22544926;22569126;22645359;22813749;22922743;22959432;22961380;23222130;23236153;23333303;23345524;23874216;24076191;24149845;24196718;24304693;24448447;24737827;24914973;2524422;25301780;25301781;25555158;2558966;26092250;26154972;26385511;26420826;26912367;26969736;26992070;27108190;27377154;27459055;27510544;27661449;27683217;27862975;28062851;28076346;28096519;28218747;28228285;28467828;28502770;28781166;28904123;28911096;29186539;29274231;29301961;29360106;29361316;29437277;29557506;2963332;29902443;30139799;30257008;30315122;30315277;30599162;30705154;30728453;30765414;30833945;30975767;31222486;31409651;31799625;31844290;32157095;32179686;32329775;32357974;32494006;32680882;32816001;32897882;32908316;32938616;32983136;32995776;32995777;33080218;33177556;33188728;33243851;33268501;33298915;33446560;33479166;33592498;33633747;33691108;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34301950;34315815;34373319;34405274;34509645;34624207;34822310;35051231;35177536;35215846;35318648;35385551;35561310;35580925;36010968;36215666;36241641;36610391;36797247;3757028;37938771;39894887;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]; Plays role in pre-mRNA splicing as core component of the SMN-Sm complex that mediates spliceosomal snRNP assembly and as component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes. Is also a component of the minor U12 spliceosome. As part of the U7 snRNP it is involved in histone 3'-end processing., [UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene is a component of the U1, U2, U4, and U5 small nuclear ribonucleoprotein complexes, precursors of the spliceosome. The encoded protein may also be a part of the U7 small nuclear ribonucleoprotein complex, which participates in the processing of the 3' end of histone transcripts. Several transcript variants encoding different isoforms have been found for this gene. [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": 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": "D6W5G6;Q15357;Q6IB86", "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": 23.0, "record_id": "P62308-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WWV3-1", "uniprot_id": "RT4I1_HUMAN", "mass": 43590.0, "length": 396, "protein_name": "NAD(P)H oxidoreductase RTN4IP1, mitochondrial", "gene_name": "RTN4IP1", "organism": "Human", "refseq_name": "NAD(P)H oxidoreductase RTN4IP1, mitochondrial isoform 2", "refseq_ac": "NP_001305675", "gene_names_uniprotkb": "RTN4IP1; NIMP", "gene_names_refseq": "NIMP; OPA10; RTN4IP1; Yim1", "protein_names_uniprotkb": "NAD(P)H oxidoreductase RTN4IP1, mitochondrial; 1.6.5.-; NOGO-interacting mitochondrial protein; Reticulon-4-interacting protein 1", "protein_names_refseq": "NAD(P)H oxidoreductase RTN4IP1, mitochondrial isoform 2; NAD(P)H oxidoreductase RTN4IP1, mitochondrial; NOGO-interacting mitochondrial protein", "tax_id": 9606, "disease": "optic atrophy 10 (Disease Ontology:DOID:0111434)", "pathway": " (hsa:84816)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "11237011;12067236;20068231;23393170;26593267;28638143;29181510;29557506;30379171;31077085;31637018;32157095;32392611;33037779;33136666;33298915;33315831;34357683;35051231;35439212;36231115;37884807;38224077;40596516", "class_list": "", "function": "A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families. Publication Status: Online-Only, [RefSeq, PubMed]; A ROD-CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1 RECESSIVE OPTIC ATROPHY., [RefSeq, PubMed]; NAD(P)H oxidoreductase involved in the ubiquinone biosynthetic pathway (PubMed:37884807). Required for the O-methyltransferase activity of COQ3 (PubMed:37884807). Able to catalyze the oxidoreduction of 3-demethylubiquinone into 3-demethylubiquinol in vitro (PubMed:37884807). However, it is unclear if 3-demethylubiquinone constitutes a substrate in vivo (PubMed:37884807). May also play a role in the regulation of retinal ganglion cell (RGC) neurite outgrowth, and hence in the development of the inner retina and optic nerve (By similarity). Appears to be a potent inhibitor of regeneration following spinal cord injury (By similarity)., [UniProtKB, UniProtKB, PubMed]; RTN4IP1 has a tumor-suppressive function and may regulate thyroid cancer progression., [RefSeq, PubMed]; Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies. Erratum:[Am J Hum Genet. 2015 Nov 5;97(5):769], [RefSeq, PubMed]; This gene encodes a mitochondrial protein that interacts with reticulon 4, which is a potent inhibitor of regeneration following spinal cord injury. This interaction may be important for reticulon-induced inhibition of neurite growth. Mutations in this gene can cause optic atrophy 10, with or without ataxia, cognitive disability, and seizures. There is a pseudogene for this gene on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]., [RefSeq]; This study showed that large spectrum of neurologic features, ranging from isolated optic atrophy to severe early-onset encephalopathy, can be associated with biallelic mutations in RTN4IP1., [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": 1, "reported_glycation": 0, "reported_snv": 6, "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": "Q8N9B3;Q8WZ66;Q9BRA4", "ec_number_list": "1.6.5.-", "go_molecular_function": "GO:0018455 alcohol dehydrogenase [NAD(P)+] activity;GO:0008270 zinc ion binding;GO:0000166 nucleotide binding;GO:0008753 NADPH dehydrogenase (quinone) activity;GO:0050136 NADH dehydrogenase (quinone) (non-electrogenic) activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0007399 nervous system development;GO:0006744 ubiquinone biosynthetic process;GO:0050773 regulation of dendrite development", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q8WWV3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6UVJ0-1", "uniprot_id": "SAS6_HUMAN", "mass": 74397.0, "length": 657, "protein_name": "Spindle assembly abnormal protein 6 homolog", "gene_name": "SASS6", "organism": "Human", "refseq_name": "spindle assembly abnormal protein 6 homolog isoform 2", "refseq_ac": "NP_001291758", "gene_names_uniprotkb": "SASS6; SAS6", "gene_names_refseq": "MCPH14; SAS-6; SAS6; SASS6", "protein_names_uniprotkb": "Spindle assembly abnormal protein 6 homolog; HsSAS-6; Spindle assembly defective protein 6", "protein_names_refseq": "spindle assembly abnormal protein 6 homolog isoform 2; spindle assembly abnormal protein 6 homolog; spindle assembly defective protein 6", "tax_id": 9606, "disease": "primary autosomal recessive microcephaly 14 (Disease Ontology:DOID:0070279)", "pathway": " (hsa:163786)", "pathway_count": 1, "publication_count": 72, "publication_id_list": "15572125;15665853;16244668;16964243;17681131;18669648;20068231;21273447;21725316;22020124;23186163;23301498;23481700;24107630;24366607;24951542;25418920;25576301;26811146;26992070;27846572;28063628;28832583;28834231;28904123;29237092;29242379;29393594;29485866;29508533;29557506;29632046;30059200;30315122;30379171;30410026;30620550;31492838;31530632;31722219;31844290;31848261;32265295;32357974;32387766;32488085;32502341;32574038;32938616;32983136;33214551;33298915;33912179;33968037;34019948;34260288;34357683;34561969;35051231;35132862;35251023;35254053;35513511;35580925;36241641;36739862;37541260;38501757;38838015;39443355;39531497;39534244", "class_list": "", "function": "Case Report: Prenatal Recurrent Microcephaly and Corpus Callosum Abnormalities in a Chinese Family with Novel Biallelic SASS6 Mutations., [RefSeq, PubMed]; Central scaffolding component of the centrioles ensuring their 9-fold symmetry (By similarity). Required for centrosome biogenesis and duplication: required both for mother-centriole-dependent centriole duplication and deuterosome-dependent centriole amplification in multiciliated cells (PubMed:15665853, PubMed:16244668, PubMed:17681131). Not required for centriole formation in embryonic stem cells but necessary to maintain centriole architecture (By similarity). Required for the recruitment of STIL to the procentriole and for STIL-mediated centriole amplification (PubMed:22020124). Overexpression results in excess foci-bearing centriolar markers (PubMed:15665853)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; E2F4's cytoplasmic role in multiciliogenesis is mediated via an N-terminal domain that binds two components of the centriole replication machinery, Deup1 and SAS6., [RefSeq, PubMed]; Novel biallelic SASS6 variants associated with primary microcephaly and fetal growth restriction., [RefSeq, PubMed]; SAS-6 is required for daughter centriole formation in C. elegans. SAS-6 is a coiled-coil protein that is recruited to centrioles at the onset of the centrosome duplication cycle., [RefSeq, PubMed]; SASS6 promotes tumor proliferation and is associated with TP53 and immune infiltration in lung adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a central component of centrioles and is necessary for their duplication and function. Centrioles adopt a cartwheel-shaped structure, with the encoded protein forming the hub and spokes inside a microtubule cylinder. Defects in this gene are a cause of autosomal recessive primary microcephaly. [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": 9, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 9, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 9, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "D3DT55;Q8N3K0", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005814 centriole;GO:0098536 deuterosome", "go_biological_process": "GO:0046601 positive regulation of centriole replication;GO:1905832 positive regulation of spindle assembly;GO:0007283 spermatogenesis;GO:1900087 positive regulation of G1/S transition of mitotic cell cycle;GO:0060236 regulation of mitotic spindle organization", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "Q6UVJ0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NI51-1", "uniprot_id": "CTCFL_HUMAN", "mass": 75747.0, "length": 663, "protein_name": "Transcriptional repressor CTCFL", "gene_name": "CTCFL", "organism": "Human", "refseq_name": "transcriptional repressor CTCFL isoform 1", "refseq_ac": "NP_001255969", "gene_names_uniprotkb": "CTCFL; BORIS", "gene_names_refseq": "BORIS; CT27; CTCF-T; CTCFL; HMGB1L1; dJ579F20.2", "protein_names_uniprotkb": "Transcriptional repressor CTCFL; Brother of the regulator of imprinted sites; CCCTC-binding factor; CT27; CTCF paralog; CTCF-like protein; Cancer/testis antigen 27; Zinc finger protein CTCF-T", "protein_names_refseq": "BORIS-like protein; brother of the regulator of imprinted sites; cancer/testis antigen 27; transcriptional repressor CTCFL isoform 1", "tax_id": 9606, "disease": "autosomal dominant intellectual developmental disorder 21 (Disease Ontology:DOID:0070051)", "pathway": " (hsa:140690)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11237011;12011441;12191639;16140944;16854382;17048991;17962299;18413740;18765639;24366607;29393594;30833945;31222486;32897882;34854238;35132075;36929051;37082838;37235839;38740147", "class_list": "", "function": "Association of mutation and expression of the brother of the regulator of imprinted sites (BORIS) gene with breast cancer progression. Publication Status: Online-Only, [RefSeq, PubMed]; BORIS variant SF2(C2/A4) promotes the malignant development of liver cancer by activating epithelial-mesenchymal transition and hepatic stellate cells., [RefSeq, PubMed]; BORIS/CTCFL-mediated chromatin accessibility alterations promote a pro-invasive transcriptional signature in melanoma cells., [RefSeq, PubMed]; CCCTC-binding factor (CTCF), an 11-zinc-finger factor involved in gene regulation, utilizes different zinc fingers to bind varying DNA target sites. CTCF forms methylation-sensitive insulators that regulate X-chromosome inactivation. This gene is a paralog of CTCF and appears to be expressed primarily in the cytoplasm of spermatocytes, unlike CTCF which is expressed primarily in the nucleus of somatic cells. CTCF and the protein encoded by this gene are normally expressed in a mutually exclusive pattern that correlates with resetting of methylation marks during male germ cell differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]., [RefSeq]; CTCFL regulates the PI3K-Akt pathway and it is a target for personalized ovarian cancer therapy. Publication Status: Online-Only, [RefSeq, PubMed]; Data indicate that reciprocal binding of CTCF and BORIS to the NY-ESO-1 promoter mediates epigenetic regulation of this CT gene in lung cancer cells., [RefSeq, PubMed]; Downregulation of BORIS/CTCFL leads to ROS-dependent cellular senescence and drug sensitivity in MYCN-amplified neuroblastoma., [RefSeq, PubMed]; Testis-specific DNA binding protein responsible for insulator function, nuclear architecture and transcriptional control, which probably acts by recruiting epigenetic chromatin modifiers. Plays a key role in gene imprinting in male germline, by participating in the establishment of differential methylation at the IGF2/H19 imprinted control region (ICR). Directly binds the unmethylated H19 ICR and recruits the PRMT7 methyltransferase, leading to methylate histone H4 'Arg-3' to form H4R3sme2. This probably leads to recruit de novo DNA methyltransferases at these sites (By similarity). Seems to act as tumor suppressor. In association with DNMT1 and DNMT3B, involved in activation of BAG1 gene expression by binding to its promoter. Required for dimethylation of H3 lysine 4 (H3K4me2) of MYC and BRCA1 promoters., [UniProtKB, PubMed, PubMed, PubMed]; The lack of hypomethylation in the CFCFL promoter reinforces evidence that 'genome-wide' hypomethylation is not random., [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": 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": "A0S6W1;A1L4C6;A6XGL8;A6XGM2;A6XGM3;A6XGM8;A6XGN0;A6XGN1;A6XGN2;A6XGN3;A6XGN4;E7EQ27;E7EUE3;E9PBA9;Q5JUG4;Q9BZ30;Q9NQJ3", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;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:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;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:0045815 transcription initiation-coupled chromatin remodeling", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q8NI51-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O94985-1", "uniprot_id": "CSTN1_HUMAN", "mass": 109793.0, "length": 981, "protein_name": "Calsyntenin-1", "gene_name": "CLSTN1", "organism": "Human", "refseq_name": "calsyntenin-1 isoform 1 precursor", "refseq_ac": "NP_001009566", "gene_names_uniprotkb": "CLSTN1; CS1; KIAA0911", "gene_names_refseq": "ALC-ALPHA; CDHR12; CLSTN1; CST-1; CSTN1; XB31alpha; alcalpha1; alcalpha2", "protein_names_uniprotkb": "Calsyntenin-1; Alc-alpha; Alcadein-alpha; Alzheimer-related cadherin-like protein; C-terminal fragment 1-alpha; Non-classical cadherin XB31alpha", "protein_names_refseq": "alcadein-alpha; alzheimer-related cadherin-like protein; cadherin-related family member 12; calsyntenin-1 isoform 1 precursor; non-classical cadherin XB31alpha", "tax_id": 9606, "disease": "", "pathway": " (hsa:22883)", "pathway_count": 1, "publication_count": 82, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;11237011;12498782;12972431;15037614;17332754;19531498;21081667;21385839;23481700;23584533;24715725;25418920;25502872;25548167;25645385;25813380;26136220;26154972;27221318;27566657;27600516;27846572;27862975;28228285;28467828;28514659;28649982;28832583;28904123;29093024;29242379;29314611;29317506;29393594;29493099;29508533;29557506;29632711;30459171;30573663;30779550;30833945;31020640;31154438;31217245;31222486;31530632;31844290;32157095;32350084;32387766;32502341;32897882;32938616;32983136;33043033;33141586;33298915;33392160;33592498;33691108;33717175;33936100;33968037;33981976;34087483;34171305;34357683;34433824;34561969;34932366;35051231;35154160;35251023;35561310;35580925;36010968;36241641;36284347;38665916", "class_list": "", "function": "Alcadein and amyloid beta-protein precursor regulates FE65-dependent gene transactivation [alcalpha1, alcbeta, alcgamma], [RefSeq, PubMed]; As intracellular fragment AlcICD, suppresses APBB1-dependent transactivation stimulated by APP C-terminal intracellular fragment (AICD), most probably by competing with AICD for APBB1-binding (PubMed:15037614)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Calsyntenin-1 contributes to the early stages of the hepatitis C virus replication cycle and the formation of the replication complex., [RefSeq, PubMed]; In complex with APBA2 and C99, a C-terminal APP fragment, abolishes C99 interaction with PSEN1 and thus APP C99 cleavage by gamma-secretase, most probably through stabilization of the direct interaction between APBA2 and APP (PubMed:15037614)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Postsynaptic adhesion molecule that binds to presynaptic neurexins to mediate both excitatory and inhibitory synapse formation (By similarity). Promotes synapse development by acting as a cell adhesion molecule at the postsynaptic membrane, which associates with neurexin-alpha at the presynaptic membrane (By similarity). Also functions as a cargo in axonal anterograde transport by acting as a molecular adapter that promotes KLC1 association with vesicles (PubMed:21385839). Complex formation with APBA2 and APP, stabilizes APP metabolism and enhances APBA2-mediated suppression of beta-APP40 secretion, due to the retardation of intracellular APP maturation (PubMed:12972431)., [UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; Results suggests that APP partially compensates for defective Alcalpha in anterograde transport by providing an alternative cargo receptor for kinesin-1. Erratum:[Mol Biol Cell. 2018 Feb 1;29(3):376. doi: 10.1091/mbc.e16-05-0301-corr. PMID: 29382807], [RefSeq, PubMed]; This gene is a member of the calsyntenin family, a subset of the cadherin superfamily. The encoded transmembrane protein, also known as alcadein-alpha, is thought to bind to kinesin-1 motors to mediate the axonal anterograde transport of certain types of vesicle. Amyloid precursor protein (APP) is trafficked via these vesicles and so this protein is being investigated to see how it might contribute to the mechanisms underlying Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 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": 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": 2, "reported_glycation": 0, "reported_snv": 33, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A8K183;Q5SR52;Q5UE58;Q71MN0;Q8N4K9", "ec_number_list": "", "go_molecular_function": "GO:0001540 amyloid-beta binding;GO:0005509 calcium ion binding;GO:0019894 kinesin binding;GO:0098632 cell-cell adhesion mediator activity;GO:0042988 X11-like protein binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0005634 nucleus;GO:0009986 cell surface", "go_biological_process": "GO:0098969 neurotransmitter receptor transport to postsynaptic membrane;GO:0007155 cell adhesion;GO:0051965 positive regulation of synapse assembly;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:0090128 regulation of synapse maturation", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "O94985-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q12996-1", "uniprot_id": "CSTF3_HUMAN", "mass": 82922.0, "length": 717, "protein_name": "Cleavage stimulation factor subunit 3", "gene_name": "CSTF3", "organism": "Human", "refseq_name": "cleavage stimulation factor subunit 3 isoform 2", "refseq_ac": "NP_001028677", "gene_names_uniprotkb": "CSTF3", "gene_names_refseq": "CSTF-77; CSTF3", "protein_names_uniprotkb": "Cleavage stimulation factor subunit 3; CF-1 77 kDa subunit; CSTF 77 kDa subunit; Cleavage stimulation factor 77 kDa subunit; CstF-77", "protein_names_refseq": "CF-1 77 kDa subunit; CSTF 77 kDa subunit; cleavage stimulation factor 77 kDa subunit; cleavage stimulation factor subunit 3 isoform 2; cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa; cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD", "tax_id": 9606, "disease": "", "pathway": " (hsa:1479); (R-HSA-72187); (R-HSA-73856); (R-HSA-77595); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 6, "publication_count": 155, "publication_id_list": "10669729;11060040;11237011;11747608;11979277;12871933;14519844;14749727;14762106;15037765;15084397;15565158;15998806;17081983;17128255;17190602;17984224;18220336;18288197;18318008;18411249;18452278;18669648;18691976;18707149;18957205;19217410;19413330;19651622;19690332;19836239;20068231;20166139;20230923;20573985;20695905;20844015;21295486;21406692;21911577;21947206;22121020;22207203;22223895;22424782;22544926;22813749;22928037;23186163;23222130;23299939;23301498;23481700;23874216;24076191;24149845;24244187;24275569;24715725;25301780;25301781;25505266;25576301;25645385;25662211;25836925;25880248;25892735;26092250;26154972;26288249;26375851;26992070;27108190;27600516;27846572;27862975;27920218;28096519;28218747;28228285;28510447;28514659;28649982;28832583;28834231;28860189;28904123;28911096;29186539;29242379;29274231;29331515;29393594;29437277;29493099;29508533;29557506;29769354;29786170;29902443;30139799;30257008;30315122;30524438;30599162;30779550;31154438;31530632;31844290;31848261;31937595;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32816001;32897882;32938616;32983136;33141586;33177556;33214551;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34509645;34561969;34932366;35051231;35177536;35215846;35318648;35561310;35580925;36010968;36241641;36284347;37938771;38898019;7984242;9659921", "class_list": "", "function": "CSTF3 contributes to platinum resistance in ovarian cancer through alternative polyadenylation of lncRNA NEAT1 and generating the short isoform NEAT1_1. Publication Status: Online-Only, [RefSeq, PubMed]; Data show that the recruitment of CstF subunit CstF-50 to CstF via interaction with cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa protein (CstF-77) and establish that the hexameric assembly of CstF., [RefSeq, PubMed]; One of the multiple factors required for polyadenylation and 3'-end cleavage of mammalian pre-mRNAs., [UniProtKB, UniProtKB, UniProtKB]; Results from a study on gene variability markers in early-stage human embryos shows that CSTF3 is a putative variability marker for the 3-day, 8-cell embryo stage. Publication Status: Online-Only, [RefSeq, PubMed]; Reverse genetics and nuclear magnetic resonance studies of recombinant CstF-64 (RRM-Hinge) and CstF-77 (monkeytail-carboxy-terminal domain) indicate that the last 30 amino acids of CstF-77 increases the stability of the RRM, thus altering the affinity of the complex for RNA. These results provide new insights into the mechanism by which CstF regulates the location of the RNA cleavage site during Cleavage/polyadenylation., [RefSeq, PubMed]; The protein encoded by this gene is one of three (including CSTF1 and CSTF2) cleavage stimulation factors that combine to form the cleavage stimulation factor complex (CSTF). This complex is involved in the polyadenylation and 3' end cleavage of pre-mRNAs. The encoded protein functions as a homodimer and interacts directly with both CSTF1 and CSTF2 in the CSTF complex. Alternative splicing results in multiple transcript variants encoding different isoforms. [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": 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": "A8K471;D3DR04;E9PB40;Q32P22;Q96FQ8;Q96QD6;Q96QK4", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005848 mRNA cleavage stimulating factor complex", "go_biological_process": "GO:0031123 RNA 3'-end processing;GO:0031440 regulation of mRNA 3'-end processing;GO:0180010 co-transcriptional mRNA 3'-end processing, cleavage and polyadenylation pathway;GO:0031124 mRNA 3'-end processing", "synthesized_glycan_count": 0, "hit_score": 15.8, "record_id": "Q12996-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P61962-1", "uniprot_id": "DCAF7_HUMAN", "mass": 38926.0, "length": 342, "protein_name": "DDB1- and CUL4-associated factor 7", "gene_name": "DCAF7", "organism": "Human", "refseq_name": "DDB1- and CUL4-associated factor 7", "refseq_ac": "NP_005819", "gene_names_uniprotkb": "DCAF7; HAN11; WDR68", "gene_names_refseq": "AN11; DCAF7; HAN11; SWAN-1; WDR68", "protein_names_uniprotkb": "DDB1- and CUL4-associated factor 7; WD repeat-containing protein 68; WD repeat-containing protein An11 homolog", "protein_names_refseq": "DDB1- and CUL4-associated factor 7; WD repeat-containing protein 68; WD repeat-containing protein An11 homolog; human anthocyanin; seven-WD-repeat protein of the AN11 family-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10238); (R-HSA-390471); (R-HSA-8951664)", "pathway_count": 3, "publication_count": 202, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11069780;11237011;11259415;11292861;11292862;11454738;11585840;11733065;11961546;12101228;12186903;12502735;12504025;12504026;12526791;12538644;12609982;12682069;12759363;12816948;14593110;14690597;14757770;15282312;15361859;15367669;15537541;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16647857;16707496;16790436;16887337;16943200;16949367;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18452278;18775313;18775504;18776931;18805092;18826954;18851830;18926707;19011634;19250909;19321346;19617556;19748355;21098288;21328542;21447816;21463634;21778237;21863050;21940857;21993680;21995946;22306028;22466964;22537386;22959436;23201271;23333871;23401859;23453757;23481700;23535662;23535663;23563313;23583660;23747015;23864635;23912815;23986495;24076655;24366543;24636985;24715725;24756126;24793695;24793696;25314029;25342745;25349211;25355947;25418920;25467444;25531226;25576301;25802875;26154972;26344709;26375851;26460955;26632597;26811146;26906416;26992070;27030794;27222660;27543614;27565346;27600516;27846572;27862975;27920218;28115426;28218747;28228285;28649982;28832583;28834231;28855257;28904123;29153394;29242379;29331515;29437277;29493099;29508533;29557506;29632711;29786170;29789417;30315122;30410026;30429286;30610225;30779550;31154438;31217245;31530632;31844290;31848261;32005965;32157095;32161166;32284348;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33444648;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34509645;34561969;34932366;35051231;35154160;35318648;35580925;36010968;36241641;36284347;36939378;37217939;37938771;40307207;9192870;9790970;9819444;9887101;9891082", "class_list": "", "function": "Involved in craniofacial development. Acts upstream of the EDN1 pathway and is required for formation of the upper jaw equivalent, the palatoquadrate. The activity required for EDN1 pathway function differs between the first and second arches (By similarity). Associates with DIAPH1 and controls GLI1 transcriptional activity. Could be involved in normal and disease skin development. May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex., [UniProtKB, PubMed, PubMed]; MEN1 Degradation Induced by Neddylation and the CUL4B-DCAF7 Axis Promotes Pancreatic Neuroendocrine Tumor Progression., [RefSeq, PubMed]; This gene encodes a protein with multiple WD40 repeats which facilitate protein-protein interactions and thereby enable the assembly of multiprotein complexes. This protein has been shown to function as a scaffold protein for protein complexes involved in kinase signaling. This highly conserved gene is present in eukaryotic plants, fungi, and animals. The ortholog of this gene was first identified in plants as a key regulator of anthocyanin biosynthesis and flower pigmentation. Alternative splicing results in multiple transcript variants. [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": 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": 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": "B4E039;D3DU14;O15491;Q9DAE4", "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:0005829 cytosol;GO:0016363 nuclear matrix", "go_biological_process": "GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 20.5, "record_id": "P61962-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TE69-1", "uniprot_id": "EOLA1_HUMAN", "mass": 17891.0, "length": 158, "protein_name": "Protein EOLA1", "gene_name": "EOLA1", "organism": "Human", "refseq_name": "protein EOLA1 isoform b", "refseq_ac": "NP_001311205", "gene_names_uniprotkb": "EOLA1; CXorf40A; CXorf40", "gene_names_refseq": "CXorf40A; CXorf40; EOLA1", "protein_names_uniprotkb": "Protein EOLA1; Endothelial-overexpressed lipopolysaccharide-associated factor 1; Endothelium and lymphocyte associated ASCH domain 1", "protein_names_refseq": "endothelial-overexpressed lipopolysaccharide-associated factor 1; protein CXorf40A; protein EOLA1 isoform b; protein EOLA1", "tax_id": 9606, "disease": "", "pathway": " (hsa:91966)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;15541360;24916366;29493099;31007603;31844290;33633747;35051231;8717057", "class_list": "", "function": "Data shows that EOLA1 in HUVEC dramatically decreased inflammation factor IL-6 production and apoptosis induced by LPS treatment., [RefSeq, PubMed]; EOLA1 and MT2A may have an important role of cell protection in inflammation reaction., [RefSeq, PubMed]; May play a role in cell protection during the inflammatory response. In epithelial cells, negatively regulates IL6 production and apoptosis through the regulation of MT2A expression (PubMed:24916366)., [UniProtKB, PubMed]; The results of immunofluorescence and immunohistochemistry showed that EOLA1 was expressed in the epithelial tissues of Diabetic Foot Ulcer. 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": "A0A0A0MTB5;A8K784;B7Z6H6;B7ZL96;D6RA72;E7ENU3;Q2M3E9", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "GO:0032675 regulation of interleukin-6 production;GO:0010468 regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8TE69-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HB71-1", "uniprot_id": "CYBP_HUMAN", "mass": 26210.0, "length": 228, "protein_name": "Calcyclin-binding protein", "gene_name": "CACYBP", "organism": "Human", "refseq_name": "calcyclin-binding protein isoform 2", "refseq_ac": "NP_001007215", "gene_names_uniprotkb": "CACYBP; PNAS-107; S100A6BP; SIP", "gene_names_refseq": "CACYBP; GIG5; PNAS-107; S100A6BP; SIP", "protein_names_uniprotkb": "Calcyclin-binding protein; CacyBP; S100A6-binding protein; Siah-interacting protein; hCacyBP", "protein_names_refseq": "S100A6-binding protein; Siah-interacting protein (SIP); calcyclin-binding protein isoform 2; growth-inhibiting gene 5 protein; hCacyBP", "tax_id": 9606, "disease": "pancreatic cancer (Disease Ontology:DOID:1793); myocardial infarction (Disease Ontology:DOID:5844)", "pathway": " (hsa:27101)", "pathway_count": 1, "publication_count": 107, "publication_id_list": "10358176;11237011;11389839;12006993;12421809;12895292;16085652;17287340;18707149;19608861;20112406;22223895;23186163;23301498;24397554;24715725;25418920;25576301;25645385;25802875;25810538;25892735;26154972;26758079;26811146;26992070;27543614;27600516;27920218;28218747;28228285;28467828;28514659;28832583;28834231;28904123;29242379;29314611;29317506;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29769354;29786170;30315122;30410026;30429286;30484775;30524438;30573663;30779550;30833945;31154438;31217245;31530632;31844290;31848261;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33465208;33537174;33592498;33633747;33912179;33936100;33968037;33981976;34019948;34078123;34185709;34357683;34509645;34561969;34932366;35051231;35138101;35154160;35251023;35580925;36010968;36215666;36284347;36576589;37156124;37316325;37373509;37938771;38558058;39894887;40596516", "class_list": "", "function": "CACYBP knockdown inhibits progression of prostate cancer via p53., [RefSeq, PubMed]; CacyBP promotes the development of lung adenocarcinoma by regulating OTUD5., [RefSeq, PubMed]; Investigation of interaction with Siah1, [RefSeq, PubMed]; Involvement of CacyBP/SIP in differentiation and the immune response of HaCaT keratinocytes., [RefSeq, PubMed]; May be involved in calcium-dependent ubiquitination and subsequent proteasomal degradation of target proteins. Probably serves as a molecular bridge in ubiquitin E3 complexes. Participates in the ubiquitin-mediated degradation of beta-catenin (CTNNB1)., [UniProtKB, PubMed]; The Effect of CacyBP/SIP on the Phosphorylation of ERK1/2 and p38 Kinases in Clear Cell Renal Cell Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a calcyclin binding protein. It may be involved in calcium-dependent ubiquitination and subsequent proteosomal degradation of target proteins. It probably serves as a molecular bridge in ubiquitin E3 complexes and participates in the ubiquitin-mediated degradation of beta-catenin. 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": 4, "reported_mutagensis": 3, "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": "B2ZWH2;B3KSF1;O60666;Q5R370;Q5R371", "ec_number_list": "", "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0019904 protein domain specific binding;GO:0042803 protein homodimerization activity;GO:0031625 ubiquitin protein ligase binding;GO:0044548 S100 protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005641 nuclear envelope lumen;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007507 heart development;GO:0071277 cellular response to calcium ion;GO:0055007 cardiac muscle cell differentiation;GO:0060416 response to growth hormone;GO:0045740 positive regulation of DNA replication", "synthesized_glycan_count": 0, "hit_score": 11.0, "record_id": "Q9HB71-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95071-1", "uniprot_id": "UBR5_HUMAN", "mass": 309352.0, "length": 2799, "protein_name": "E3 ubiquitin-protein ligase UBR5", "gene_name": "UBR5", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase UBR5 isoform 2", "refseq_ac": "NP_001269802", "gene_names_uniprotkb": "UBR5; EDD1; EDD; HYD; KIAA0896", "gene_names_refseq": "DD5; EDD1; EDD; HYD; NEDSBH; UBR5", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase UBR5; 2.3.2.26; E3 ubiquitin-protein ligase, HECT domain-containing 1; Hyperplastic discs protein homolog; Progestin-induced protein; hHYD", "protein_names_refseq": "E3 identified by differential display; E3 ubiquitin-protein ligase UBR5 isoform 2; E3 ubiquitin-protein ligase, HECT domain-containing 1; HECT-type E3 ubiquitin transferase UBR5; hyperplastic discs protein homolog; progestin-induced protein", "tax_id": 9606, "disease": "neurodevelopmental disorder with speech delay and behavioral abnormalities (Disease Ontology:DOID:0070710); stomach cancer (Disease Ontology:DOID:10534); breast cancer (Disease Ontology:DOID:1612); colon cancer (Disease Ontology:DOID:219); colon adenocarcinoma (Disease Ontology:DOID:234); laryngeal carcinoma (Disease Ontology:DOID:2600); invasive ductal carcinoma (Disease Ontology:DOID:3008); gastric adenocarcinoma (Disease Ontology:DOID:3717); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); gallbladder carcinoma (Disease Ontology:DOID:4948)", "pathway": " (hsa:51366)", "pathway_count": 1, "publication_count": 150, "publication_id_list": "10030672;11237011;11287654;11714696;12011095;15592455;16083285;16565220;17081983;17525332;17897937;17924679;18077418;18088087;18452278;18491316;18669648;18691976;18767875;19007248;19287380;19651622;19664995;19690332;19691289;20068231;20166139;21118991;21127351;21406692;21726808;21924388;22884692;23027739;23186163;23301498;23481700;24275569;24366607;24397554;24656813;24714562;24715725;25418920;25576301;25645385;25880248;25892735;26154972;26375851;26728094;26758079;26811146;26929215;26992070;27543614;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28559278;28689657;28832583;28834231;28855257;28904123;29033132;29242379;29331515;29378950;29393594;29437277;29441057;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30379171;30410026;30429286;30484775;30524438;31217245;31844290;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33208877;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34229054;34405274;34509645;34561969;34725712;34932366;35051231;35217622;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37040767;37409633;37478846;37478862;37620400;37938771;38253038;38331119;38577917;38755129;39302247;39441926;39721588;40307207;40596516;40914422", "class_list": "", "function": "E3 ubiquitin ligase UBR5 promotes gemcitabine resistance in pancreatic cancer by inducing O-GlcNAcylation-mediated EMT via destabilization of OGA. Publication Status: Online-Only, [RefSeq, PubMed]; E3 ubiquitin-protein ligase involved in different protein quality control pathways in the cytoplasm and nucleus (PubMed:29033132, PubMed:33208877, PubMed:37478846, PubMed:37478862). Mainly acts as a ubiquitin chain elongator that extends pre-ubiquitinated substrates (PubMed:29033132, PubMed:37409633). Component of the N-end rule pathway: ubiquitinates proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their degradation (By similarity). Recognizes type-1 N-degrons, containing positively charged amino acids (Arg, Lys and His) (By similarity). Together with UBR4, part of a cytoplasm protein quality control pathway that prevents protein aggregation by catalyzing assembly of heterotypic 'Lys-11'-/'Lys-48'-linked branched ubiquitin chains on aggregated proteins, leading to substrate recognition by the segregase p97/VCP and degradation by the proteasome: UBR5 is probably branching multiple 'Lys-48'-linked chains of substrates initially modified with mixed conjugates by UBR4 (PubMed:29033132). Together with ITCH, catalyzes 'Lys-48'-/'Lys-63'-branched ubiquitination of TXNIP, leading to its degradation: UBR5 mediates branching of 'Lys-48'-linked chains of substrates initially modified with 'Lys-63'-linked conjugates by ITCH (PubMed:29378950). Catalytic component of a nuclear protein quality control pathway that mediates ubiquitination and degradation of unpaired transcription factors (i.e. transcription factors that are not assembled into functional multiprotein complexes): specifically recognizes and binds degrons that are not accessible when transcription regulators are associated with their coactivators (PubMed:37478846, PubMed:37478862). Ubiquitinates various unpaired transcription regulator (MYC, SUPT4H1, SUPT5H, CDC20 and MCRS1), as well as ligand-bound nuclear receptors (ESR1, NR1H3, NR3C1, PGR, RARA, RXRA AND VDR) that are not associated with their nuclear receptor coactivators (NCOAs) (PubMed:33208877, PubMed:37478846, PubMed:37478862). Involved in maturation and/or transcriptional regulation of mRNA by mediating polyubiquitination and activation of CDK9 (PubMed:21127351). Also acts as a regulator of DNA damage response by acting as a suppressor of RNF168, an E3 ubiquitin-protein ligase that promotes accumulation of 'Lys-63'-linked histone H2A and H2AX at DNA damage sites, thereby acting as a guard against excessive spreading of ubiquitinated chromatin at damaged chromosomes (PubMed:22884692). Regulates DNA topoisomerase II binding protein (TopBP1) in the DNA damage response (PubMed:11714696). Ubiquitinates acetylated PCK1 (PubMed:21726808). Acts as a positive regulator of the canonical Wnt signaling pathway by mediating (1) ubiquitination and stabilization of CTNNB1, and (2) 'Lys-48'-linked ubiquitination and degradation of TLE3 (PubMed:21118991, PubMed:28689657). Promotes disassembly of the mitotic checkpoint complex (MCC) from the APC/C complex by catalyzing ubiquitination of BUB1B, BUB3 and CDC20 (PubMed:35217622). Plays an essential role in extraembryonic development (By similarity). Required for the maintenance of skeletal tissue homeostasis by acting as an inhibitor of hedgehog (HH) signaling (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The G1-S transition is promoted by Rb degradation via the E3 ligase UBR5., [RefSeq, PubMed]; The role of UBR5 in tumor proliferation and oncotherapy. Review article, [RefSeq, PubMed]; This gene encodes a progestin-induced protein, which belongs to the HECT (homology to E6-AP carboxyl terminus) family. The HECT family proteins function as E3 ubiquitin-protein ligases, targeting specific proteins for ubiquitin-mediated proteolysis. This gene is localized to chromosome 8q22 which is disrupted in a variety of cancers. This gene potentially has a role in regulation of cell proliferation or differentiation. [provided by RefSeq, Jul 2008]., [RefSeq]; VIRMA promotes the progression of head and neck squamous cell carcinoma by regulating UBR5 mRNA and m6A levels. 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": 58, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 86, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 11, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B2RP24;J3KMW7;O94970;Q9NPL3", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0034450 ubiquitin-ubiquitin ligase activity;GO:0043130 ubiquitin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0042307 positive regulation of protein import into nucleus;GO:0006281 DNA repair;GO:0010628 positive regulation of gene expression;GO:0006974 DNA damage response;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 15.5, "record_id": "O95071-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P53999-1", "uniprot_id": "TCP4_HUMAN", "mass": 14395.0, "length": 127, "protein_name": "Activated RNA polymerase II transcriptional coactivator p15", "gene_name": "SUB1", "organism": "Human", "refseq_name": "activated RNA polymerase II transcriptional coactivator p15", "refseq_ac": "NP_006704", "gene_names_uniprotkb": "SUB1; PC4; RPO2TC1", "gene_names_refseq": "P15; PC4; SUB1; p14", "protein_names_uniprotkb": "Activated RNA polymerase II transcriptional coactivator p15; PC4; Positive cofactor 4; SUB1 homolog; p14", "protein_names_refseq": "SUB1 homolog, transcriptional regulator; activated RNA polymerase II transcription cofactor 4; activated RNA polymerase II transcriptional coactivator p15; positive cofactor 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:10923)", "pathway_count": 1, "publication_count": 95, "publication_id_list": "11237011;11389848;16415882;16605275;16689930;17287340;18212344;18452278;18669648;19608861;19651622;19664994;19690332;20058876;20068231;21406692;23186163;24275569;24715725;25114211;25576301;25802875;26154972;26375851;26728094;26811146;26992070;27846572;27920218;28063628;28218747;28228285;28510447;28514659;28832583;28855257;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30410026;30429286;30833945;31154438;31530632;31844290;31848261;31998317;32157095;32265295;32350084;32387766;32502341;32897882;32983136;33043033;33141586;33214551;33298915;33465208;33633747;33936100;33968037;34019948;34211107;34932366;35051231;35251023;35318648;35561310;35580925;35670677;36215666;37217939;37938771;38240906;38349334;38665916;38820928;39101269;40596516;40930100;7628453;7809103;8062391;8062392;9360603;9482861", "class_list": "", "function": "General coactivator that functions cooperatively with TAFs and mediates functional interactions between upstream activators and the general transcriptional machinery. May be involved in stabilizing the multiprotein transcription complex. Binds single-stranded DNA. Also binds, in vitro, non-specifically to double-stranded DNA (ds DNA)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; HMGB3 and SUB1 Bind to and Facilitate the Repair of N[2]-Alkylguanine Lesions in DNA., [RefSeq, PubMed]; PC4 promotes bladder cancer progression and stemness by directly interacting with Sp1 to transcriptionally activate the Wnt5a/beta-catenin pathway., [RefSeq, PubMed]; Periodic changes of cyclin D1 mRNA stability are regulated by PC4 modifications in the cell cycle., [RefSeq, PubMed]; Phosphorylation-dependent association of human chromatin protein PC4 to linker histone H1 regulates genome organization and transcription., [RefSeq, PubMed]; SUB1 promotes colorectal cancer metastasis by activating NF-kappaB signaling via UBR5-mediated ubiquitination of UBXN1., [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": 22, "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": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q96L29", "ec_number_list": "", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0003723 RNA binding;GO:0042802 identical protein binding;GO:0003690 double-stranded DNA binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0070062 extracellular exosome;GO:0005667 transcription regulator 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:0051053 negative regulation of DNA metabolic process;GO:0001111 RNA polymerase II promoter clearance", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "P53999-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ICB0-1", "uniprot_id": "DESI1_HUMAN", "mass": 18263.0, "length": 168, "protein_name": "Desumoylating isopeptidase 1", "gene_name": "DESI1", "organism": "Human", "refseq_name": "desumoylating isopeptidase 1", "refseq_ac": "NP_056519", "gene_names_uniprotkb": "DESI1; FAM152B; PPPDE2", "gene_names_refseq": "D15Wsu75e; DESI1; DJ347H13.4; DeSI-1; FAM152B; POST; PPPDE2", "protein_names_uniprotkb": "Desumoylating isopeptidase 1; 3.1.2.22; 3.4.-.-; DeSI-1; POST; PPPDE peptidase domain-containing protein 2; Palmitoyl protein thioesterase DESI1; Polyubiquitinated substrate transporter; S-depalmitoylase DESI1", "protein_names_refseq": "PPPDE peptidase domain containing 2; PPPDE peptidase domain-containing protein 2; S-depalmitoylase DESI1; desumoylating isopeptidase 1; family with sequence similarity 152, member B; palmitoyl protein thioesterase DESI1; polyubiquitinated substrate transporter", "tax_id": 9606, "disease": "", "pathway": " (hsa:27351)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "18669648;19913121;20068231;20628086;23783831;25645385;25892735;26992070;28228285;28832583;28834231;28904123;29242379;29493099;29557506;29666234;29789417;30429286;30779550;31154438;31844290;31848261;32157095;32357974;32488085;32502341;32938616;33592498;33717175;33912179;34087483;34561969;35051231;35427157;35561310;35580925;36215666;36284347;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]; Protease which deconjugates SUMO1, SUMO2 and SUMO3 from some substrate proteins. Has isopeptidase but not SUMO-processing activity (By similarity). Desumoylates ZBTB46 (By similarity). Collaborates with UBQLN4 in the export of ubiquitinated proteins from the nucleus to the cytoplasm (PubMed:29666234). Exhibits palmitoyl protein thioesterase (S-depalmitoylation) activity towards synthetic substrates 4-methylumbelliferyl-6-S-palmitoyl-beta-D-glucopyranoside and S-depalmitoylation probe 5 (DPP-5) (PubMed:35427157)., [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": 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": "3.1.2.22;2.3.1.-;3.1.2.-;3.1.2.2;3.4.-.-;3.4.19.12;3.1.1.93", "go_molecular_function": "GO:0016929 deSUMOylase activity;GO:0061676 importin-alpha family protein binding;GO:0042802 identical protein binding;GO:0008474 palmitoyl-(protein) hydrolase activity;GO:0052816 long-chain fatty acyl-CoA hydrolase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0032991 protein-containing complex", "go_biological_process": "GO:0006508 proteolysis;GO:0006611 protein export from nucleus;GO:0032434 regulation of proteasomal ubiquitin-dependent protein catabolic process;GO:0016926 protein desumoylation", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q6ICB0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P02795-1", "uniprot_id": "MT2_HUMAN", "mass": 6042.0, "length": 61, "protein_name": "Metallothionein-2", "gene_name": "MT2A", "organism": "Human", "refseq_name": "metallothionein-2", "refseq_ac": "NP_005944", "gene_names_uniprotkb": "MT2A; CES1; MT2", "gene_names_refseq": "MT-2; MT-II; MT2A; MT2", "protein_names_uniprotkb": "Metallothionein-2; MT-2; MT-II; Metallothionein-2A; Metallothionein-II", "protein_names_refseq": "metallothionein-2; metallothionein-II", "tax_id": 9606, "disease": "retinitis pigmentosa (Disease Ontology:DOID:10584); Alzheimer's disease (Disease Ontology:DOID:10652); kidney failure (Disease Ontology:DOID:1074); carotid stenosis (Disease Ontology:DOID:13001); transient cerebral ischemia (Disease Ontology:DOID:224); psychotic disorder (Disease Ontology:DOID:2468); median neuropathy (Disease Ontology:DOID:571); type 2 diabetes mellitus (Disease Ontology:DOID:9352); senile cataract (Disease Ontology:DOID:9669)", "pathway": " (hsa:4502); (R-HSA-5661231); (R-HSA-877300)", "pathway_count": 3, "publication_count": 92, "publication_id_list": "10067896;10542048;10716985;10830841;10986460;11237011;11972023;11994011;12040185;12072966;12438563;12446674;12911326;12915721;12963354;1339282;1396683;14586410;14722222;15033980;1508672;15143187;15322115;15388922;15530433;15541360;15698955;15736926;1593628;16237089;16467876;16984198;17125875;17224279;17388808;17389590;17914565;18157556;18362138;18429853;18454142;18491316;18533113;18591661;19425569;20049711;20130243;20304997;20363976;20463663;20711450;21320589;22242602;22283439;22823575;22982309;23053628;23061660;23086305;23506369;23523794;2388267;24275569;24417533;24973778;26456220;2780570;33239784;36981043;37074911;37713131;40930100;6896577;7133118;7510216;7514165;7530745;7615558;7617032;7657660;7673114;7690989;7796299;8156998;8176225;8483949;8530158;8550631;8631301;9111318;913597;9143706", "class_list": "", "function": "An Assessment of MT1A (rs11076161), MT2A (rs28366003) and MT1L (rs10636) Gene Polymorphisms and MT2 Concentration in Women with Endometrial Pathologies. Publication Status: Online-Only, [RefSeq, PubMed]; HMBOX1 regulates intracellular free zinc level by interacting with MT2A to inhibit apoptosis and promote autophagy in vascular endothelial cells. Publication Status: Online-Only, [RefSeq, PubMed]; MT was up-regulated under hypoxia in prostate cancer cells and overexpressed in prostate cancer tissue and residual cancer cells after androgen ablation therapy, [RefSeq, PubMed]; Metallothioneins have a high content of cysteine residues that bind various heavy metals., [UniProtKB, UniProtKB]; Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids., [UniProtKB]; Single-cell transcriptome analysis revealing the intratumoral heterogeneity of ccRCC and validation of MT2A in pathogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; These data suggest that the rs28366003 single nucleotide polymorphism in MT2A is associated with risk of breast cancer in Polish population., [RefSeq, PubMed]; This gene is a member of the metallothionein family of genes. Proteins encoded by this gene family are low in molecular weight, are cysteine-rich, lack aromatic residues, and bind divalent heavy metal ions, altering the intracellular concentration of heavy metals in the cell. These proteins act as anti-oxidants, protect against hydroxyl free radicals, are important in homeostatic control of metal in the cell, and play a role in detoxification of heavy metals. The encoded protein interacts with the protein encoded by the homeobox containing 1 gene in some cell types, controlling intracellular zinc levels, affecting apoptotic and autophagy pathways. Some polymorphisms in this gene are associated with an increased risk of cancer. [provided by RefSeq, Sep 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": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 9, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q14823;Q2HXR9;Q53XT9", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006878 intracellular copper ion homeostasis;GO:0071276 cellular response to cadmium ion;GO:0071280 cellular response to copper ion;GO:0010273 detoxification of copper ion;GO:0006882 intracellular zinc ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "P02795-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P35579-1", "uniprot_id": "MYH9_HUMAN", "mass": 226532.0, "length": 1960, "protein_name": "Myosin-9", "gene_name": "MYH9", "organism": "Human", "refseq_name": "myosin-9", "refseq_ac": "NP_002464", "gene_names_uniprotkb": "MYH9", "gene_names_refseq": "BDPLT6; DFNA17; EPSTS; FTNS; MATINS; MHA; MYH9; NMHC-II-A; NMMHC-IIA; NMMHCA", "protein_names_uniprotkb": "Myosin-9; Cellular myosin heavy chain, type A; Myosin heavy chain 9; Myosin heavy chain, non-muscle IIa; NMMHC II-a; NMMHC-A; NMMHC-IIA; Non-muscle myosin heavy chain A; Non-muscle myosin heavy chain IIa", "protein_names_refseq": "cellular myosin heavy chain, type A; myosin, heavy chain 9, non-muscle; myosin-9; non-muscle myosin heavy chain 9; non-muscle myosin heavy chain A; non-muscle myosin heavy chain IIa; non-muscle myosin heavy polypeptide 9; nonmuscle myosin IIA2; nonmuscle myosin heavy chain II-A", "tax_id": 9606, "disease": "orofacial cleft (Disease Ontology:DOID:0050567); metabolic acidosis (Disease Ontology:DOID:0050758); MYH-9 related disease (Disease Ontology:DOID:0060651); Alport syndrome 3A (Disease Ontology:DOID:0110032); autosomal dominant nonsyndromic deafness 17 (Disease Ontology:DOID:0110548); sensorineural hearing loss (Disease Ontology:DOID:10003); thrombocytopenia (Disease Ontology:DOID:1588); kidney disease (Disease Ontology:DOID:557); proteinuria (Disease Ontology:DOID:576); end stage renal disease (Disease Ontology:DOID:783); chronic kidney disease (Disease Ontology:DOID:784)", "pathway": " (hsa:4627); (R-HSA-1445148); (R-HSA-2029482); (R-HSA-3928663); (R-HSA-416572); (R-HSA-5625740); (R-HSA-5625900); (R-HSA-5627117); (R-HSA-5627123); (R-HSA-9662360); (R-HSA-9662361); (R-HSA-9662834); (R-HSA-9664422); (R-HSA-9725370)", "pathway_count": 14, "publication_count": 490, "publication_id_list": "10.1101/2023.09.13.557529;10025409;10047984;10066432;10092231;10216106;10219243;10330186;10470034;10496324;10497257;10556217;10559936;10601018;10619026;10639334;10648003;10652353;10702393;10706082;10706887;10724160;10748018;10753910;10769020;10781580;10821263;10878810;10924361;10934142;10973259;10973260;10975528;10975989;10995437;11018042;11023810;11110708;11134534;11157975;11163272;11179879;11231582;11237011;11276226;11278486;11280786;11310834;11313932;11329366;11331307;11340081;11504915;11553796;11590545;11688984;11747816;11751994;11752022;11776386;11804587;11829459;11850821;11854399;11935325;11942626;11943732;11988758;12055636;12058067;12105426;12112524;12185581;12185584;12189515;12196628;12198493;12213210;12220504;12235133;12424201;12453877;12533692;12621058;12621333;12649151;12730235;12743368;12750159;12755693;12783890;12792306;12800156;12802051;12917436;12920229;12934099;1314888;14514689;14580336;14623079;14654843;14676198;14962911;15000491;15003508;15040784;15169778;15184667;15208656;15210733;15374880;15378014;15452139;15479433;15588951;15657136;15791647;15848799;15895073;15919790;15971998;16083285;16106752;16139798;16153455;16161041;16170336;16202622;16204230;16219803;16262445;16408927;16431929;16546099;16641196;16702231;16707441;16825495;16854367;16871283;16880201;16880808;16939498;16959974;16964243;16969870;17081983;17086210;17151359;17188549;17202194;17287340;17301291;17308335;17353907;17369524;17416736;17483340;17487921;17567956;17625570;17925381;17995453;18006505;18025083;18059020;18070890;18083107;18088087;18097461;18212344;18318008;18391171;18452278;18452557;18477386;18491316;18510355;18593892;18594010;1860190;18669648;18675813;18701132;18707149;18724359;18767875;18794854;18794856;18829550;18923523;18923524;18923525;18971378;19007248;19013499;1912569;19177153;19252894;19289088;19367720;19369195;19413330;19415658;19456272;19459784;19513348;19608861;19651622;19664994;1967836;19690332;19691289;19723632;19741094;19826041;19955216;20052411;20058876;20068230;20068231;20112406;20166139;20188673;20305658;20444238;20454865;20631154;20701589;20807704;20837646;20937701;20944748;21037092;21098037;21134980;21164297;21213368;21316371;21351730;21406692;21415216;21419341;21454505;21454690;21494621;21596819;21605113;21656749;21749319;21838707;21847362;21907143;22123909;22229724;22246777;22246778;22249260;22293177;22299025;22327622;22347464;22424782;22570254;22645359;22658521;22693546;22737070;23104988;23139213;23161543;23186163;23201355;23239810;23301498;23328677;23444367;23481700;23555621;23646949;23661334;23675550;23716662;23719902;23890271;23957430;24029068;24060861;24128008;24166499;24275569;24275664;24338472;24366607;24445538;24475247;24496003;24518094;24613930;24714562;24715725;24736082;2474607;24859002;25342631;25393796;25418920;25421750;25502872;2550440;25505266;25576301;25645385;25795784;25813404;25880248;25892735;25921060;26001147;26061065;26062823;26154972;26301689;26375851;26386427;26552660;26728094;26758079;26768311;26811146;26853435;26977077;26992070;27245569;27325790;27331610;27397612;27452731;27573755;27600516;27726376;27846572;27862975;27874193;27920218;28218747;28228547;28345668;28404650;28467828;28514659;28659337;28741662;28832583;28904123;29045841;29242379;29317506;29351928;29393594;29437277;29455642;29493099;29508533;29557506;29632711;2966156;29786170;29873274;30131584;30315122;30397120;30410026;30429286;30484775;30692217;30777378;3079756;30833945;30872814;31020640;31154438;31217245;31366041;31530632;31552033;31611695;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32685004;32870666;32897882;32938616;32983136;33043033;33091337;33123756;33141586;33214551;33298915;33392160;33465208;33592498;33633747;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34185709;34211107;34229054;34357683;34405274;34433824;34509645;34561969;34725712;34932366;35008409;35051231;35083852;35138101;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37217939;37938771;3839510;38665916;38986830;39048823;39125717;39990658;40596516;40914422;41018975;7559638;7824924;7848918;8094051;8107774;8543060;8633037;8662509;8664345;8702756;8809042;8921966;8986718;9278512;9354661;9520379;9523318;9535855;9600938;9683637;9705280;9792683;9799231;9819383;9843499;9870942;9870943;9883880;9885284;9889122;9988689", "class_list": "", "function": "(Microbial infection) Acts as a receptor for herpes simplex virus 1/HHV-1 envelope glycoprotein B., [UniProtKB, PubMed, PubMed]; Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping. Required for cortical actin clearance prior to oocyte exocytosis (By similarity). Promotes cell motility in conjunction with S100A4 (PubMed:16707441). During cell spreading, plays an important role in cytoskeleton reorganization, focal contact formation (in the margins but not the central part of spreading cells), and lamellipodial retraction; this function is mechanically antagonized by MYH10 (PubMed:20052411)., [UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; SFN promotes renal fibrosis via binding with MYH9 in chronic kidney disease., [RefSeq, PubMed]; The Aryl Hydrocarbon Receptor Regulates Invasiveness and Motility in Acute Myeloid Leukemia Cells through Expressional Regulation of Non-Muscle Myosin Heavy Chain IIA. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a conventional non-muscle myosin; this protein should not be confused with the unconventional myosin-9a or 9b (MYO9A or MYO9B). The encoded protein is a myosin IIA heavy chain that contains an IQ domain and a myosin head-like domain which is involved in several important functions, including cytokinesis, cell motility and maintenance of cell shape. Defects in this gene have been associated with non-syndromic sensorineural deafness autosomal dominant type 17, Epstein syndrome, Alport syndrome with macrothrombocytopenia, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness. [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": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 22, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 87, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 11, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "A8K6E4;O60805;Q60FE2;Q86T83", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003779 actin binding;GO:0005178 integrin binding;GO:0005516 calmodulin binding;GO:0005524 ATP binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005819 spindle;GO:0005829 cytosol", "go_biological_process": "GO:0001778 plasma membrane repair;GO:1903923 positive regulation of protein processing in phagocytic vesicle;GO:0001525 angiogenesis;GO:0006509 membrane protein ectodomain proteolysis;GO:0006911 phagocytosis, engulfment", "synthesized_glycan_count": 0, "hit_score": 50.6, "record_id": "P35579-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q00796-1", "uniprot_id": "DHSO_HUMAN", "mass": 38325.0, "length": 357, "protein_name": "Sorbitol dehydrogenase", "gene_name": "SORD", "organism": "Human", "refseq_name": "sorbitol dehydrogenase", "refseq_ac": "NP_003095", "gene_names_uniprotkb": "SORD", "gene_names_refseq": "HEL-S-95n; HMNR8; RDH; SDH; SORD1; SORDD; SORD; XDH", "protein_names_uniprotkb": "Sorbitol dehydrogenase; (R,R)-butanediol dehydrogenase; 1.1.1.-; 1.1.1.14; 1.1.1.4; 1.1.1.56; 1.1.1.9; L-iditol 2-dehydrogenase; Polyol dehydrogenase; RDH; Ribitol dehydrogenase; SDH; XDH; Xylitol dehydrogenase", "protein_names_refseq": "(R,R)-butanediol dehydrogenase; L-iditol 2-dehydrogenase; epididymis secretory sperm binding protein Li 95n; polyol dehydrogenase; ribitol dehydrogenase; sorbitol dehydrogenase; xylitol dehydrogenase", "tax_id": 9606, "disease": "autosomal recessive distal hereditary motor neuronopathy 8 (Disease Ontology:DOID:0081427); cataract (Disease Ontology:DOID:83); diabetic neuropathy (Disease Ontology:DOID:9743)", "pathway": " (hsa:6652); (R-HSA-5652227); (R-HSA-5661270)", "pathway_count": 3, "publication_count": 92, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11882650;12595725;12665801;12962626;1420136;14401390;14401391;14965227;15103634;15272156;15809331;16278369;18220710;19423711;20068231;20372835;2112546;22042873;23179721;24275569;24714562;24715725;25105142;25418920;25576301;25645385;25810538;25880248;26154972;26728094;26811146;2691249;26929215;26992070;27846572;27920218;28063628;28218747;28228285;28832583;28834231;29242379;29393594;29437277;29557506;29632046;29786170;29966615;30315122;30484775;31020640;31154438;31217245;31530632;31844290;31848261;32157095;32350084;32357974;32367058;32387766;32488085;32502341;33314640;33397963;33592498;3365415;33968037;33981976;34019948;34171305;34229054;34357683;34561969;34819907;35051231;35580925;36241641;36581221;37584201;38665916;4392213;6870831;7669785;7782086;8088829;8281941;8487505;8722620;9183016", "class_list": "glycogene", "function": "Crystals of sorbitol dehydrogenase belong to the monoclinic C2 space group, with unit-cell parameters a = 145.9, b = 52.3, c = 169.0 A, beta = 101.8 degrees, [RefSeq, PubMed]; Expanding the genetic and clinical spectrum of SORD-related peripheral neuropathy by reporting a novel variant c.210T>G and evidence of subclinical muscle involvement., [RefSeq, PubMed]; Polyol dehydrogenase that catalyzes the reversible NAD(+)-dependent oxidation of various sugar alcohols. Is mostly active with D-sorbitol (D-glucitol), L-threitol, xylitol and ribitol as substrates, leading to the C2-oxidized products D-fructose, L-erythrulose, D-xylulose, and D-ribulose, respectively (PubMed:3365415). Is a key enzyme in the polyol pathway that interconverts glucose and fructose via sorbitol, which constitutes an important alternate route for glucose metabolism. The polyol pathway is believed to be involved in the etiology of diabetic complications, such as diabetic neuropathy and retinopathy, induced by hyperglycemia (PubMed:12962626, PubMed:25105142, PubMed:29966615). May play a role in sperm motility by using sorbitol as an alternative energy source for sperm motility (PubMed:16278369). May have a more general function in the metabolism of secondary alcohols since it also catalyzes the stereospecific oxidation of (2R,3R)-2,3-butanediol. To a lesser extent, can also oxidize L-arabinitol, galactitol and D-mannitol and glycerol in vitro. Oxidizes neither ethanol nor other primary alcohols. Cannot use NADP(+) as the electron acceptor (PubMed:3365415)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Sorbitol dehydrogenase (SDH), a member of the medium-chain dehydrogenase/reductase protein family and the second enzyme of the polyol pathway of glucose metabolism, converts sorbitol to fructose strictly using NAD(+) as coenzyme. Review article, [RefSeq, PubMed]; Sorbitol dehydrogenase (SORD; EC 1.1.1.14) catalyzes the interconversion of polyols and their corresponding ketoses, and together with aldose reductase (ALDR1; MIM 103880), makes up the sorbitol pathway that is believed to play an important role in the development of diabetic complications (summarized by Carr and Markham, 1995 [PubMed 8535074]). The first reaction of the pathway (also called the polyol pathway) is the reduction of glucose to sorbitol by ALDR1 with NADPH as the cofactor. SORD then oxidizes the sorbitol to fructose using NAD(+) cofactor.[supplied by OMIM, 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": 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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 470, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2R655;B7Z3A6;J3JZZ5;Q16682;Q9UMD6", "ec_number_list": "1.1.1.-;1.1.1.14;1.1.1.4;1.1.1.56;1.1.1.9", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0051287 NAD binding;GO:0030246 carbohydrate binding;GO:0003939 L-iditol 2-dehydrogenase (NAD+) activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005829 cytosol;GO:0016020 membrane;GO:0031514 motile cilium;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0030317 flagellated sperm motility;GO:0006006 glucose metabolic process;GO:0046370 fructose biosynthetic process;GO:0019640 D-glucuronate catabolic process to D-xylulose 5-phosphate;GO:0006062 sorbitol catabolic process", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "Q00796-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WWM9-1", "uniprot_id": "CYGB_HUMAN", "mass": 21405.0, "length": 190, "protein_name": "Cytoglobin", "gene_name": "CYGB", "organism": "Human", "refseq_name": "cytoglobin", "refseq_ac": "NP_599030", "gene_names_uniprotkb": "CYGB; STAP", "gene_names_refseq": "CYGB; HGB; NOD; STAP", "protein_names_uniprotkb": "Cytoglobin; 1.11.1.-; 1.14.12.-; 1.15.1.1; 1.7.-.-; HGb; Histoglobin; NOD; Nitric oxygen dioxygenase CYGB; Nitrite reductase CYGB; Pseudoperoxidase CYGB; Stellate cell activation-associated protein; Superoxide dismutase CYGB", "protein_names_refseq": "cytoglobin; histoglobin; nitric oxygen dioxygenase CYGB; nitrite reductase CYGB; pseudoperoxidase CYGB; stellate cell activation-associated protein; superoxide dismutase CYGB", "tax_id": 9606, "disease": "renal fibrosis (Disease Ontology:DOID:0050855); chronic pancreatitis (Disease Ontology:DOID:0051065); liver cirrhosis (Disease Ontology:DOID:5082); kidney disease (Disease Ontology:DOID:557)", "pathway": " (hsa:114757); (R-HSA-203615); (R-HSA-8981607)", "pathway_count": 3, "publication_count": 76, "publication_id_list": "10376602;10376603;10469573;10559837;10781589;11029004;11208594;11237011;11429401;11473128;11498544;11879202;11893755;11919282;11988487;12359339;12718557;12799359;12962627;13584010;14530264;14660570;15044115;15095869;15165856;15299006;15598505;15601759;16699195;16722822;16864653;18171027;18446211;18718500;19147491;19663506;19919085;20511233;20553503;20675544;21898353;22787149;23160832;23195625;27397612;27600516;27862975;28393874;28671819;29128400;30429286;30524438;31844290;31848261;32157095;32488085;32938616;33576020;34035373;34185709;34629450;34930834;35580925;36284347;37296100;37938771;39107431;39227479;5032105;7512951;8692835;8798458;9188442;9325253;9580552;9712842", "class_list": "", "function": "A reliable set of reference genes to normalize oxygen-dependent cytoglobin gene expression levels in melanoma. Publication Status: Online-Only, [RefSeq, PubMed]; A ubiquitously expressed human hexacoordinate hemoglobin, [RefSeq, PubMed]; Characterization of the heme environmental structure of this protein, a fourth globin in humans, [RefSeq, PubMed]; Cloned, deduced amino acid sequence and expressed in diseased liver tissue where stellate cells were present, [RefSeq, PubMed]; Cytoglobin as a Prognostic Factor for Pancreatic Ductal Adenocarcinoma: A Retrospective Analysis of 75 Patients., [RefSeq, PubMed]; Cytoglobin has potent superoxide dismutase function., [RefSeq, PubMed]; Probable multifunctional globin with a hexacoordinated heme iron required for the catalysis of various reactions depending on redox condition of the cell as well as oxygen availability (PubMed:11893755, PubMed:12359339, PubMed:15165856, PubMed:19147491, PubMed:20511233, PubMed:28393874, PubMed:28671819, PubMed:29128400, PubMed:33576020, PubMed:34930834). Has a nitric oxide dioxygenase (NOD) activity and is most probably involved in cell-mediated and oxygen-dependent nitric oxide consumption (PubMed:19147491, PubMed:20511233, PubMed:28393874, PubMed:28671819). By scavenging this second messenger may regulate several biological processes including endothelium-mediated vasodilation and vascular tone (PubMed:19147491, PubMed:28393874). Under normoxic conditions functions as a nitric oxide dioxygenase (NOD) but under hypoxic conditions the globin may switch its function to that of a nitrite (NO2) reductase (NiR), generating nitric oxide (PubMed:29128400). Could also have peroxidase and superoxide dismutase activities, detoxifying reactive oxygen species and protecting cells against oxidative stress (PubMed:12359339, PubMed:33576020, PubMed:34930834). Also binds dioxygen with low affinity and could function as an oxygen sensor but has probably no function as a respiratory oxygen carrier (PubMed:11893755, PubMed:15299006, PubMed:20553503)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; SOX7 inhibits the malignant progression of bladder cancer via the DNMT3B/CYGB axis. Publication Status: Online-Only, [RefSeq, PubMed]; The cytoglobin-dependent transcriptome in melanoma indicates a protective function associated with oxidative stress, inflammation and cancer-associated pathways. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a globin protein found in vertebrate cells. The encoded protein is described as a hexacoordinate hemoglobin which binds ligand differently from the pentacoordinate hemoglobins involved in oxygen transport, and may be involved in protection during oxidative stress. This gene is located on chromosome 17 in the same region as a retinal gene which is mutated in progressive rod-cone degeneration, but in the opposite orientation. [provided by RefSeq, Jan 2012]., [RefSeq]; Vertebrate myoglobins are in fact a specialized intracellular globin that evolved in adaptation to the special needs of muscle 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q541Y7;Q8N2X5", "ec_number_list": "1.8.-.-;1.15.1.1;1.11.1.-;1.7.-.-;1.11.1.7;1.14.12.-", "go_molecular_function": "GO:0005506 iron ion binding;GO:0016491 oxidoreductase activity;GO:0020037 heme binding;GO:0004096 catalase activity;GO:0004784 superoxide dismutase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016607 nuclear speck;GO:0043025 neuronal cell body", "go_biological_process": "GO:0010764 negative regulation of fibroblast migration;GO:0046209 nitric oxide metabolic process;GO:0006979 response to oxidative stress;GO:0001666 response to hypoxia;GO:0019395 fatty acid oxidation", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q8WWM9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P39880-1", "uniprot_id": "CUX1_HUMAN", "mass": 164187.0, "length": 1505, "protein_name": "Homeobox protein cut-like 1", "gene_name": "CUX1", "organism": "Human", "refseq_name": "protein CASP isoform e", "refseq_ac": "NP_001189473", "gene_names_uniprotkb": "CUX1; CUTL1", "gene_names_refseq": "CASP; CDP/Cut; CDP1; CDP; COY1; CUTL1; CUX1; CUX; Clox; Cux/CDP; GDDI; GOLIM6; NEDDMS; Nbla10317; p100; p110; p200; p75", "protein_names_uniprotkb": "Homeobox protein cut-like 1; CCAAT displacement protein; CDP/Cux p200; CDP; Homeobox protein cux-1", "protein_names_refseq": "CCAAT displacement protein; CDP/Cux p200; CUX1 gene Alternatively Spliced Product; cut homolog; golgi integral membrane protein 6; homeobox protein cux-1; mutant CUX1; protein CASP isoform e; protein CASP; putative protein product of Nbla10317", "tax_id": 9606, "disease": "disease of metabolism (Disease Ontology:DOID:0014667); non-Hodgkin lymphoma (Disease Ontology:DOID:0060060); bone disease (Disease Ontology:DOID:0080001); asbestosis (Disease Ontology:DOID:10320); stomach cancer (Disease Ontology:DOID:10534); pre-eclampsia (Disease Ontology:DOID:10591); Alzheimer's disease (Disease Ontology:DOID:10652); urinary bladder cancer (Disease Ontology:DOID:11054); aplastic anemia (Disease Ontology:DOID:12449); Parkinson's disease (Disease Ontology:DOID:14330); respiratory system disease (Disease Ontology:DOID:1579); cancer (Disease Ontology:DOID:162); anemia (Disease Ontology:DOID:2355); hematologic cancer (Disease Ontology:DOID:2531); asthma (Disease Ontology:DOID:2841); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); toxic encephalopathy (Disease Ontology:DOID:3602); insulinoma (Disease Ontology:DOID:3892); lung non-small cell carcinoma (Disease Ontology:DOID:3908); aflatoxins-related hepatocellular carcinoma (Disease Ontology:DOID:5022); hepatocellular carcinoma (Disease Ontology:DOID:684); Leber hereditary optic neuropathy (Disease Ontology:DOID:705); acute myeloid leukemia (Disease Ontology:DOID:9119); multiple myeloma (Disease Ontology:DOID:9538); pulmonary emphysema (Disease Ontology:DOID:9675); acute lymphoblastic leukemia (Disease Ontology:DOID:9952); global developmental delay with or without impaired intellectual development (MONDO:MONDO:0032680)", "pathway": " (hsa:1523); (R-HSA-1839117); (R-HSA-5655302); (R-HSA-6811438)", "pathway_count": 4, "publication_count": 179, "publication_id_list": "10.1101/2023.09.13.557529;10189370;10480903;10579907;10607901;10652257;10652308;10652516;10688839;10887137;10918587;10935490;11157491;11237011;11429702;11584018;11689702;11718716;11739186;11748249;12011112;12124177;12383348;12393597;12429822;1301999;14534538;14660670;15034873;15050920;15099520;15448205;15504911;15609342;15718469;15728195;15758030;15800673;16091734;16844695;16946300;16959974;17274799;17505008;17525332;17533378;17698633;18077418;18086915;18205209;18212344;18256213;18337450;18373495;18381441;18412956;18451304;18552176;18669648;18757403;19103595;19147536;19164740;19369959;19381019;19413330;19536132;19715559;19749790;19809159;19874848;19946327;20068231;20094046;20163571;20179196;20226962;20709759;20874812;21160078;21330321;21666749;21711248;21807881;22013193;22188167;23091056;23186163;23239882;23378023;23462996;23481700;23839779;23936529;23940353;24119662;24715725;25576301;25708460;25755297;25772364;26154972;26992070;27600516;27920218;28514659;28657654;28832583;28834231;28904123;29237092;29242379;29314611;29393594;29508533;29557506;29632711;29786170;29789417;30014507;30059200;30379171;30620550;31492838;31844290;32157095;32350084;32357974;32387766;32502341;32574038;32938616;32938750;33298915;33592498;33912179;33936100;33968037;34087483;34171305;34357683;34509645;34846842;34932366;35051231;35132862;35254053;35289036;35494241;35513511;35580925;35705054;36010968;36241641;36284347;37541260;38735044;38819709;38849771;38944813;38994801;39531497;39534244;40307207;8636227;8945478;9244307;9332351;9425908;9476900;9510256;9576949;9653114;9707577;9716603;9799793;9857065;9915833;9949182", "class_list": "", "function": "CUX1 attenuates the apoptosis of renal tubular epithelial cells induced by contrast media through activating the PI3K/AKT signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; CUX1 regulates human hematopoietic stem cell chromatin accessibility via the BAF complex., [RefSeq, PubMed]; Cathepsin L induces cellular senescence by upregulating CUX1 and p16[INK4a]., [RefSeq, PubMed]; Data report the characterization of a mammalian coiled-coil protein, CASP, a Golgi protein that shares with giantin a conserved histidine in its transmembrane domain., [RefSeq, PubMed]; May be involved in intra-Golgi retrograde transport., [UniProtKB, PubMed]; P110CUX1 promotes acute myeloid leukemia progression via regulating pyridoxal phosphatase expression and activating PI3K/AKT/mTOR signaling pathway., [RefSeq, PubMed]; P200CUX1-regulated BMP8B inhibits the progression of acute myeloid leukemia via the MAPK signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in cell cycle progression, in particular at the G1/S transition. As cells progress into S phase, a fraction of CUX1 molecules is proteolytically processed into N-terminally truncated proteins of 110 kDa. While CUX1 only transiently binds to DNA and carries the CCAAT-displacement activity, CDP/Cux p110 makes a stable interaction with DNA and stimulates expression of genes such as POLA1., [UniProtKB, PubMed]; The protein encoded by this gene is a member of the homeodomain family of DNA binding proteins. It may regulate gene expression, morphogenesis, and differentiation and it may also play a role in the cell cycle progession. Several alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Feb 2011]., [RefSeq]; Transcription factor involved in the control of neuronal differentiation in the brain. Regulates dendrite development and branching, and dendritic spine formation in cortical layers II-III. Also involved in the control of synaptogenesis. In addition, it has probably a broad role in mammalian development as a repressor of developmentally regulated gene expression. May act by preventing binding of positively-activing CCAAT factors to promoters. Component of nf-munr repressor; binds to the matrix attachment regions (MARs) (5' and 3') of the immunoglobulin heavy chain enhancer. Represses T-cell receptor (TCR) beta enhancer function by binding to MARbeta, an ATC-rich DNA sequence located upstream of the TCR beta enhancer. Binds to the TH enhancer; may require the basic helix-loop-helix protein TCF4 as a coactivator., [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": 1, "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": 32, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 54, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 27, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "B3KV79;J3KQV9;Q6NYH4;Q75LE5;Q75MT2;Q75MT3;Q86UJ7;Q9UEV5", "ec_number_list": "", "go_molecular_function": "GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;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:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005794 Golgi apparatus;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:0050775 positive regulation of dendrite morphogenesis;GO:0006891 intra-Golgi vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 19.1, "record_id": "P39880-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NGE4-1", "uniprot_id": "DC8L1_HUMAN", "mass": 67373.0, "length": 600, "protein_name": "DDB1- and CUL4-associated factor 8-like protein 1", "gene_name": "DCAF8L1", "organism": "Human", "refseq_name": "DDB1- and CUL4-associated factor 8-like protein 1", "refseq_ac": "NP_001017930", "gene_names_uniprotkb": "DCAF8L1; WDR42B", "gene_names_refseq": "DCAF8L1; WDR42B", "protein_names_uniprotkb": "DDB1- and CUL4-associated factor 8-like protein 1; WD repeat-containing protein 42B", "protein_names_refseq": "DDB1- and CUL4-associated factor 8-like protein 1; WD repeat domain 42B; WD repeat-containing protein 42B", "tax_id": 9606, "disease": "", "pathway": " (hsa:139425)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "16949367;29557506;30192525;31844290", "class_list": "", "function": "Functionally characterizes other DDB1- and CUL4-associated factors, including the DCAF8 factor which most closely resembles the product of this gene., [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 the formation of heterotrimeric or multi-protein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene appears to represent an intronless retrocopy of a related multi-exon gene located on chromosome 1. However, the CDS of this intronless gene remains intact, it is conserved in other primate species, it is known to be transcribed, and it is therefore thought to encode a functional protein. [provided by RefSeq, May 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": 0, "reported_glycation": 0, "reported_snv": 27, "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": "B3KXX1", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0080008 Cul4-RING E3 ubiquitin ligase complex", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "A6NGE4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NN92-1", "uniprot_id": "CXE1_HUMAN", "mass": 23755.0, "length": 205, "protein_name": "Gap junction epsilon-1 protein", "gene_name": "GJE1", "organism": "Human", "refseq_name": "gap junction epsilon-1 protein", "refseq_ac": "NP_001345339", "gene_names_uniprotkb": "GJE1", "gene_names_refseq": "CX23; GJE1", "protein_names_uniprotkb": "Gap junction epsilon-1 protein; Connexin-23; Cx23", "protein_names_refseq": "connexin-23; gap junction epsilon-1 protein; gap junction protein, epsilon 1, 23kDa; putative gap junction epsilon-1 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:100126572)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "18849090;19657183;29632711;31092671;32387766", "class_list": "", "function": "Mediates calcium-independent ATP release, suggesting activity as a hemichannel. Does not form functional gap junctions., [UniProtKB, UniProtKB]; 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": 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: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": 0.6, "record_id": "A6NN92-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A8MPP1-1", "uniprot_id": "D11L8_HUMAN", "mass": 101811.0, "length": 907, "protein_name": "Putative ATP-dependent DNA helicase DDX11-like protein 8", "gene_name": "DDX11L8", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "DDX11L8", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative ATP-dependent DNA helicase DDX11-like protein 8; 5.6.2.-; DEAD/H box protein 11-like 8", "protein_names_refseq": "", "tax_id": 9606, "disease": "Warsaw breakage syndrome (Disease Ontology:DOID:0060535)", "pathway": "", "pathway_count": 0, "publication_count": 40, "publication_id_list": "23481700;24715725;25418920;25505266;25576301;25645385;25892735;26154972;26375851;26992070;27846572;28411811;28904123;29557506;30410026;30484775;30620550;31844290;32357974;32387766;32488085;32502341;32897882;32938616;33123756;33298915;33392160;33592498;33691108;33936100;33968037;33981976;34087483;34211107;34509645;35051231;35561310;36010968;36215666;38253038", "class_list": "", "function": "Putative DNA helicase., [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": 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": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0003678 DNA helicase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus", "go_biological_process": "GO:0006139 nucleobase-containing compound metabolic process;GO:0034085 establishment of sister chromatid cohesion", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "A8MPP1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A8MYA2-1", "uniprot_id": "CX049_HUMAN", "mass": 54417.0, "length": 514, "protein_name": "Uncharacterized protein CXorf49", "gene_name": "CXorf49B; CXorf49", "organism": "Human", "refseq_name": "uncharacterized protein CXorf49", "refseq_ac": "NP_001138611", "gene_names_uniprotkb": "CXorf49B; CXorf49", "gene_names_refseq": "CXorf49B; CXorf49", "protein_names_uniprotkb": "Uncharacterized protein CXorf49", "protein_names_refseq": "uncharacterized protein CXorf49", "tax_id": 9606, "disease": "", "pathway": " (hsa:100130361); (hsa:100132994)", "pathway_count": 2, "publication_count": 3, "publication_id_list": "32938616;35051231;37340703", "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": 0.6, "record_id": "A8MYA2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P80162-1", "uniprot_id": "CXCL6_HUMAN", "mass": 11897.0, "length": 114, "protein_name": "C-X-C motif chemokine 6", "gene_name": "CXCL6", "organism": "Human", "refseq_name": "C-X-C motif chemokine 6 precursor", "refseq_ac": "NP_002984", "gene_names_uniprotkb": "CXCL6; GCP2; SCYB6", "gene_names_refseq": "CKA-3; CXCL6; GCP-2; GCP2; SCYB6", "protein_names_uniprotkb": "C-X-C motif chemokine 6; CKA-3; Chemokine alpha 3; GCP-2; Granulocyte chemotactic protein 2; Small-inducible cytokine B6", "protein_names_refseq": "C-X-C motif chemokine 6 precursor; C-X-C motif chemokine 6; chemokine (C-X-C motif) ligand 6 (granulocyte chemotactic protein 2); chemokine alpha 3; small inducible cytokine subfamily B (Cys-X-Cys), member 6 (granulocyte chemotactic protein 2); small inducible cytokine subfamily B (Cys-X-Cys), member b; small-inducible cytokine B6", "tax_id": 9606, "disease": "obstructive sleep apnea (Disease Ontology:DOID:0050848); alcohol-associated liver disease (Disease Ontology:DOID:0070658); prostatitis (Disease Ontology:DOID:14654); colon carcinoma (Disease Ontology:DOID:1520); severe acute respiratory syndrome (Disease Ontology:DOID:2945); rhinitis (Disease Ontology:DOID:4483)", "pathway": " (hsa:6372); (R-HSA-380108); (R-HSA-418594)", "pathway_count": 3, "publication_count": 76, "publication_id_list": "10229797;10640743;10706668;10725696;10725697;10781587;11007482;11060282;11237011;12120503;12149255;12554737;12884299;15067078;15951850;16107333;16634148;16923326;1744577;1840701;18434541;18443119;18577758;1891716;20002784;2078213;2217207;2423119;2534964;27397612;2748346;2834384;28832583;29557506;2970963;30429286;30524438;3098319;31154438;31844290;31848261;31998317;32157095;32488085;3260265;33241954;33368292;33592498;35580925;36892025;37612429;7602097;7622448;7642634;7679328;7851893;7875320;7937899;8015379;8048929;8383238;8399143;8406495;8423327;8639485;8849694;9024663;9057843;9164944;9166430;9169459;9207005;9276730;9390561;9463416;9618518", "class_list": "", "function": "CXCL6 fuels the growth and metastases of esophageal squamous cell carcinoma cells both in vitro and in vivo through upregulation of PD-L1 via activation of STAT3 pathway., [RefSeq, PubMed]; CXCL6 regulates cell permeability, proliferation, and apoptosis after ischemia-reperfusion injury by modulating Sirt3 expression via AKT/FOXO3a activation., [RefSeq, PubMed]; CXCL6: A potential therapeutic target for inflammation and cancer. Review article Erratum:[Clin Exp Med. 2023 Dec;23(8):4429. doi: 10.1007/s10238-023-01209-8. PMID: 37882888], [RefSeq, PubMed]; Chemotactic for neutrophil granulocytes. Signals through binding and activation of its receptors (CXCR1 and CXCR2). In addition to its chemotactic and angiogenic properties, it has strong antibacterial activity against Gram-positive and Gram-negative bacteria (90-fold-higher when compared to CXCL5 and CXCL7)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Circ_0006089 Facilitates Gastric Cancer Progression via Decoying miR- 515-5p and Up-regulating CXCL6., [RefSeq, PubMed]; The protein encoded by this gene is a member CXC chemokine family. The encoded protein is a chemotactic for neutrophil granulocytes and has antibacterial action against gram-negative and gram-positive bacteria. This gene and other members of the CXC chemokine gene family form a gene cluster in a region of chromosome 4q. [provided by RefSeq, Jun 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": 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": "B2R4X3;Q4W5D4", "ec_number_list": "", "go_molecular_function": "GO:0008201 heparin binding;GO:0008009 chemokine activity;GO:0045236 CXCR chemokine receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0006935 chemotaxis;GO:0006954 inflammatory response;GO:0007165 signal transduction;GO:0007267 cell-cell signaling;GO:0061844 antimicrobial humoral immune response mediated by antimicrobial peptide", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "P80162-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O00622-1", "uniprot_id": "CCN1_HUMAN", "mass": 42027.0, "length": 381, "protein_name": "CCN family member 1", "gene_name": "CCN1", "organism": "Human", "refseq_name": "CCN family member 1 precursor", "refseq_ac": "NP_001545", "gene_names_uniprotkb": "CCN1; CYR61; GIG1; IGFBP10", "gene_names_refseq": "CCN1; CYR61; GIG1; IBP-10; IGFBP-10; IGFBP10", "protein_names_uniprotkb": "CCN family member 1; Cellular communication network factor 1; Cysteine-rich angiogenic inducer 61; IBP-10; IGF-binding protein 10; IGFBP-10; Insulin-like growth factor-binding protein 10; Protein CYR61; Protein GIG1", "protein_names_refseq": "CCN family member 1 precursor; CCN family member 1; IGF-binding protein 10; cysteine rich angiogenic inducer 61; cysteine-rich heparin-binding protein 61; cysteine-rich, anigogenic inducer, 61; insulin-like growth factor-binding protein 10; protein CYR61", "tax_id": 9606, "disease": "atrioventricular septal defect (Disease Ontology:DOID:0050651); peripheral artery disease (Disease Ontology:DOID:0050830); atrial heart septal defect 1 (Disease Ontology:DOID:0110106); intracranial aneurysm (Disease Ontology:DOID:10941); proliferative diabetic retinopathy (Disease Ontology:DOID:13207); capillary hemangioma (Disease Ontology:DOID:2725); high grade glioma (Disease Ontology:DOID:3070); congestive heart failure (Disease Ontology:DOID:6000); rheumatoid arthritis (Disease Ontology:DOID:7148); systemic lupus erythematosus (Disease Ontology:DOID:9074); multiple myeloma (Disease Ontology:DOID:9538)", "pathway": " (hsa:3491); (R-HSA-381426); (R-HSA-8957275)", "pathway_count": 3, "publication_count": 104, "publication_id_list": "10026136;10077652;10218588;10446209;10512690;10614670;10681634;10810289;10821835;10852911;10898936;10912521;10951195;10990447;11158056;11237011;11250653;11264294;11287419;11316783;11522292;11584015;11606061;11739083;11751371;11788658;11810026;12241545;12379487;12466191;12810533;12904166;1370451;1383255;15126567;15308688;15469690;15485880;15525596;15642270;17047378;17249697;17312271;17985932;2476804;2479552;25576301;26091039;26424659;27600516;28608634;29242379;29393594;29557506;29786170;30192525;30429286;30484775;31844290;31848261;32157095;32161166;32350084;32387766;32938616;33592498;33968037;34019948;35051231;35251023;35561310;36010968;36215666;36241641;37217939;38446998;38521502;38665916;38755602;38904029;38959438;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7683646;7689487;8781553;8817670;8894645;8964575;9135077;9446626;9497324;9536281;9709957;9733769;9786878;9922210", "class_list": "", "function": "CYR61 Acts as an Intracellular Microtubule-Associated Protein and Coordinates Mitotic Progression via PLK1-FBW7 Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; CYR61 confers chemoresistance by upregulating survivin expression in triple-negative breast cancer., [RefSeq, PubMed]; Cellular communication network factor 1 promotes retinal leakage in diabetic retinopathy via inducing neutrophil stasis and neutrophil extracellular traps extrusion. Publication Status: Online-Only, [RefSeq, PubMed]; Nanomechanics of CCN1-Mediated Staphylococcus aureus Phagocytosis., [RefSeq, PubMed]; Promotes cell proliferation, chemotaxis, angiogenesis and cell adhesion. Appears to play a role in wound healing by up-regulating, in skin fibroblasts, the expression of a number of genes involved in angiogenesis, inflammation and matrix remodeling including VEGA-A, VEGA-C, MMP1, MMP3, TIMP1, uPA, PAI-1 and integrins alpha-3 and alpha-5. CCN1-mediated gene regulation is dependent on heparin-binding. Down-regulates the expression of alpha-1 and alpha-2 subunits of collagen type-1. Promotes cell adhesion and adhesive signaling through integrin alpha-6/beta-1, cell migration through integrin alpha-v/beta-5 and cell proliferation through integrin alpha-v/beta-3., [UniProtKB, PubMed]; The secreted protein encoded by this gene is growth factor-inducible and promotes the adhesion of endothelial cells. The encoded protein interacts with several integrins and with heparan sulfate proteoglycan. This protein also plays a role in cell proliferation, differentiation, angiogenesis, apoptosis, and extracellular matrix formation. [provided by RefSeq, Sep 2011]., [RefSeq]; Upregulation of CYR61 by TGF-beta and YAP signaling exerts a counter-suppression 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": 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": 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": 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": 15, "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": "O14934;O43775;Q9BZL7", "ec_number_list": "", "go_molecular_function": "GO:0005178 integrin binding;GO:0008201 heparin binding;GO:0019838 growth factor binding;GO:0050840 extracellular matrix binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0031012 extracellular matrix", "go_biological_process": "GO:0006935 chemotaxis;GO:0007155 cell adhesion;GO:0007165 signal transduction;GO:0007229 integrin-mediated signaling pathway;GO:0030335 positive regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 10.7, "record_id": "O00622-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O14625-1", "uniprot_id": "CXL11_HUMAN", "mass": 10365.0, "length": 94, "protein_name": "C-X-C motif chemokine 11", "gene_name": "CXCL11", "organism": "Human", "refseq_name": "C-X-C motif chemokine 11 isoform 2 precursor", "refseq_ac": "NP_001289052", "gene_names_uniprotkb": "CXCL11; ITAC; SCYB11; SCYB9B", "gene_names_refseq": "CXCL11; H174; I-TAC; IP-9; IP9; SCYB11; SCYB9B; b-R1", "protein_names_uniprotkb": "C-X-C motif chemokine 11; Beta-R1; H174; I-TAC; IP-9; Interferon gamma-inducible protein 9; Interferon-inducible T-cell alpha chemoattractant; Small-inducible cytokine B11", "protein_names_refseq": "C-X-C motif chemokine 11 isoform 2 precursor; C-X-C motif chemokine 11; beta-R1; chemokine (C-X-C motif) ligand 11; interferon gamma-inducible protein 9; interferon-inducible T-cell alpha chemoattractant; small inducible cytokine B11; small inducible cytokine subfamily B (Cys-X-Cys), member 11; small inducible cytokine subfamily B (Cys-X-Cys), member 9B", "tax_id": 9606, "disease": "pulmonary sarcoidosis (Disease Ontology:DOID:13406); interstitial cystitis (Disease Ontology:DOID:13949); bronchiolitis obliterans (Disease Ontology:DOID:2799); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083)", "pathway": " (hsa:6373); (R-HSA-380108); (R-HSA-418594)", "pathway_count": 3, "publication_count": 73, "publication_id_list": "10229797;10233762;10386863;10395932;10640743;10706668;10725696;10725697;10781587;11007482;11060282;12120503;12149255;12554737;12884299;12949249;15067078;15150261;15273303;15951850;16107333;16210647;16634148;16923326;1744577;1840701;18434541;18577758;18645041;1891716;20002784;2078213;2217207;2423119;2534964;27044744;2748346;2834384;29242379;29557506;2970963;3098319;31844290;3260265;32983136;35051231;37074930;7602097;7622448;7642634;7679328;7851893;7875320;7937899;8015379;8048929;8383238;8406495;8639485;8798467;8849694;9024663;9164944;9166430;9169459;9207005;9276730;9370294;9390561;9463416;9618518;9625760;9730616", "class_list": "", "function": "CXCL11 displays antimicrobial activity against E. coli and S. aureus., [RefSeq, PubMed]; CXCL9, CXCL10, and CXCL11 functions are mediated by intracellular domains of CXCR3, [RefSeq, PubMed]; CXCR3 ligands inhibit CCR3-mediated functional responses of both human eosinophils and CCR3 transfectants induced by all three eotaxins, with CXCL11 being the most efficacious antagonist., [RefSeq, PubMed]; Chemokines are a group of small (approximately 8 to 14 kD), mostly basic, structurally related molecules that regulate cell trafficking of various types of leukocytes through interactions with a subset of 7-transmembrane, G protein-coupled receptors. Chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in angiogenesis or angiostasis. Chemokines are divided into 2 major subfamilies, CXC and CC. This antimicrobial gene is a CXC member of the chemokine superfamily. Its encoded protein induces a chemotactic response in activated T-cells and is the dominant ligand for CXC receptor-3. The gene encoding this protein contains 4 exons and at least three polyadenylation signals which might reflect cell-specific regulation of expression. IFN-gamma is a potent inducer of transcription of this gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014]., [RefSeq]; Chemotactic for interleukin-activated T-cells but not unstimulated T-cells, neutrophils or monocytes. Induces calcium release in activated T-cells. Binds to CXCR3. May play an important role in CNS diseases which involve T-cell recruitment. May play a role in skin immune responses., [UniProtKB]; Stem-like signatures in human meningioma cells are under the control of CXCL11/CXCL12 chemokine activity., [RefSeq, PubMed]; This CSCR3 ligand has the ability to activate biochemical (e.g., PtdIns and MAP kinase activation) and functional events (actin reorganization) in intestinal myofibroblasts., [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": "Q53YA3;Q92840", "ec_number_list": "", "go_molecular_function": "GO:0008201 heparin binding;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:0016020 membrane", "go_biological_process": "GO:0006935 chemotaxis;GO:0006954 inflammatory response;GO:0006955 immune response;GO:0007165 signal transduction;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "O14625-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P00156-1", "uniprot_id": "CYB_HUMAN", "mass": 42718.0, "length": 380, "protein_name": "Cytochrome b", "gene_name": "MT-CYB", "organism": "Human", "refseq_name": "cytochrome b", "refseq_ac": "YP_003024038", "gene_names_uniprotkb": "MT-CYB; COB; CYTB; MTCYB", "gene_names_refseq": "CYTB; MTCYB", "protein_names_uniprotkb": "Cytochrome b; Complex III subunit 3; Complex III subunit III; Cytochrome b-c1 complex subunit 3; Ubiquinol-cytochrome-c reductase complex cytochrome b subunit", "protein_names_refseq": "cytochrome b", "tax_id": 9606, "disease": "infantile histiocytoid cardiomyopathy (Disease Ontology:DOID:0080198); urinary bladder cancer (Disease Ontology:DOID:11054); ovarian carcinoma (Disease Ontology:DOID:4001); Leber hereditary optic neuropathy (Disease Ontology:DOID:705); thyrotoxicosis (Disease Ontology:DOID:7997); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:4519); (R-HSA-5419276); (R-HSA-611105); (R-HSA-9865881)", "pathway_count": 4, "publication_count": 90, "publication_id_list": "10327278;10453733;10502593;10508508;10960495;11047755;11130070;11464242;11553319;11601507;11695836;11891837;12022039;12231006;12837546;12905068;1327877;14741580;15250827;16230336;17033964;1732158;1757091;17803939;18429816;186667;18782833;19716793;20186120;21278747;22172991;23150584;23168492;23270816;23564345;23747254;239860;24385928;24715725;25008109;25233460;25564869;25576301;25605331;25880248;26154972;26992070;27846572;28380382;28673544;28844695;28904123;29243944;29437277;29557506;30410026;31217245;32157095;32357974;32502341;32929120;32938616;33141586;33298915;33592498;33717175;33912179;33968037;34171305;34357683;34932366;34969438;35051231;36010968;36215666;36241641;36302763;36581221;36596788;37141370;37938771;4288886;6100559;7219534;7530363;7623448;8910895;9806551;9818877;9878551", "class_list": "", "function": "Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c. Contributes to the generation of a proton gradient across the mitochondrial membrane that is then used for ATP synthesis., [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": 6, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q34786;Q8HBR6;Q8HNQ0;Q8HNQ1;Q8HNQ9;Q8HNR4;Q8HNR7;Q8W7V8;Q8WCV9;Q8WCY2;Q8WCY7;Q8WCY8;Q9B1A6;Q9B1B6;Q9B1B8;Q9B1D4;Q9B1X6;Q9B2V0;Q9B2V8;Q9B2W0;Q9B2W3;Q9B2W8;Q9B2X1;Q9B2X7;Q9B2X9;Q9B2Y3;Q9B2Z0;Q9B2Z4;Q9T6H6;Q9T9Y0;Q9TEH4", "ec_number_list": "", "go_molecular_function": "GO:0046872 metal ion binding;GO:0044877 protein-containing complex binding;GO:0016491 oxidoreductase activity;GO:0008121 quinol-cytochrome-c reductase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0016020 membrane;GO:0045275 respiratory chain complex III", "go_biological_process": "GO:0045471 response to ethanol;GO:0051592 response to calcium ion;GO:0001666 response to hypoxia;GO:0046686 response to cadmium ion;GO:0009636 response to toxic substance", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "P00156-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P01037-1", "uniprot_id": "CYTN_HUMAN", "mass": 16388.0, "length": 141, "protein_name": "Cystatin-SN", "gene_name": "CST1", "organism": "Human", "refseq_name": "cystatin-SN precursor", "refseq_ac": "NP_001889", "gene_names_uniprotkb": "CST1", "gene_names_refseq": "CST1", "protein_names_uniprotkb": "Cystatin-SN; Cystain-SA-I; Cystatin-1; Salivary cystatin-SA-1", "protein_names_refseq": "cystain-SA-I; cystatin 1; cystatin SA-I; cystatin-SN precursor; cysteine proteinase inhibitor, type 2 family; salivary cystatin-SA-1", "tax_id": 9606, "disease": "cholangiocarcinoma (Disease Ontology:DOID:4947)", "pathway": " (hsa:1469)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11788998;15340161;1778989;20189825;25946035;2837486;3202964;3446578;3514272;36958985;37026502;37894795;38077439;38270326", "class_list": "", "function": "Combination of serum CST1 and HE4 for early diagnosis of endometrial cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Cystatin SN in type 2 inflammatory airway diseases. Review article, [RefSeq, PubMed]; Epithelium-derived cystatin SN inhibits house dust mite protease activity in allergic asthma., [RefSeq, PubMed]; Human saliva appears to contain several cysteine proteinase inhibitors that are immunologically related to cystatin S but that differ in their specificity due to amino acid sequence differences. Cystatin SN, with a pI of 7.5, is a much better inhibitor of papain and dipeptidyl peptidase I than is cystatin S, although both inhibit ficin equally well., [UniProtKB]; Meibomian Gland Dysfunction Is Associated with Low Levels of Immunoglobulin Chains and Cystatin-SN. 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 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 a cysteine proteinase inhibitor found in saliva, tears, urine, and seminal fluid. [provided by RefSeq, Jul 2008]., [RefSeq]; The functional role of CST1 and CCL26 in asthma development., [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": "Q96LE6;Q9UCQ6", "ec_number_list": "", "go_molecular_function": "GO:0004869 cysteine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0031982 vesicle", "go_biological_process": "GO:0001580 detection of chemical stimulus involved in sensory perception of bitter taste", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "P01037-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0C2S0-1", "uniprot_id": "CTXN2_HUMAN", "mass": 8980.0, "length": 81, "protein_name": "Cortexin-2", "gene_name": "CTXN2", "organism": "Human", "refseq_name": "cortexin-2", "refseq_ac": "NP_001139140", "gene_names_uniprotkb": "CTXN2", "gene_names_refseq": "CTXN2", "protein_names_uniprotkb": "Cortexin-2", "protein_names_refseq": "cortexin-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:399697)", "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": "P0C2S0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P11712-1", "uniprot_id": "CP2C9_HUMAN", "mass": 55628.0, "length": 490, "protein_name": "Cytochrome P450 2C9", "gene_name": "CYP2C9", "organism": "Human", "refseq_name": "cytochrome P450 2C9", "refseq_ac": "NP_000762", "gene_names_uniprotkb": "CYP2C9; CYP2C10", "gene_names_refseq": "CPC9; CYP2C10; CYP2C9; CYP2C; CYPIIC9; P450-2C9; P450IIC9", "protein_names_uniprotkb": "Cytochrome P450 2C9; (R)-limonene 6-monooxygenase; (S)-limonene 6-monooxygenase; (S)-limonene 7-monooxygenase; 1.14.14.1; 1.14.14.51; 1.14.14.52; 1.14.14.53; CYPIIC9; Cholesterol 25-hydroxylase; Cytochrome P-450MP; Cytochrome P450 MP-4; Cytochrome P450 MP-8; Cytochrome P450 PB-1; S-mephenytoin 4-hydroxylase", "protein_names_refseq": "cytochrome P-450 S-mephenytoin 4-hydroxylase; cytochrome P-450MP; cytochrome P450 2C9; cytochrome P450 PB-1; cytochrome P450, family 2, subfamily C, polypeptide 9; flavoprotein-linked monooxygenase; microsomal monooxygenase; xenobiotic monooxygenase", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); fragile X-associated tremor/ataxia syndrome (Disease Ontology:DOID:0050879); withdrawal disorder (Disease Ontology:DOID:0060001); autism spectrum disorder (Disease Ontology:DOID:0060041); myoclonic-atonic epilepsy (Disease Ontology:DOID:0060475); warfarin resistance (Disease Ontology:DOID:0080665); primary ovarian insufficiency 1 (Disease Ontology:DOID:0080857); hypertension (Disease Ontology:DOID:10763); urinary bladder cancer (Disease Ontology:DOID:11054); fragile X syndrome (Disease Ontology:DOID:14261); alcohol use disorder (Disease Ontology:DOID:1574); transient cerebral ischemia (Disease Ontology:DOID:224); glucose metabolism disease (Disease Ontology:DOID:4194); hyperglycemia (Disease Ontology:DOID:4195); head and neck squamous cell carcinoma (Disease Ontology:DOID:5520); malignant pleural mesothelioma (Disease Ontology:DOID:7474); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); hypoglycemia (Disease Ontology:DOID:9993)", "pathway": " (hsa:1559); (R-HSA-211981); (R-HSA-211999); (R-HSA-2142670); (R-HSA-2142816); (R-HSA-9027307); (R-HSA-9749641)", "pathway_count": 7, "publication_count": 113, "publication_id_list": "10220572;10383923;10434065;10731522;10739176;10741631;11237011;11455026;11581266;11701230;11926893;11950794;12432928;12464245;12468260;12616642;12629583;12861225;12865317;13741103;1445376;14660610;15096040;15196988;15258110;15365656;15454734;15469410;15611369;15665333;15766564;16258079;16359177;1664256;16837570;16858120;16943252;16963442;17482904;1783992;1857342;19836360;19965576;19965612;2025243;21112969;21451434;21576599;21839062;22674043;23582453;24956244;25200603;25505266;25840124;25994031;2827463;28677105;29557506;2963808;29789417;3032244;3079764;31154438;31844290;3196692;3243766;3342084;35051231;35580925;36284347;3697070;3705620;37747773;37811569;37875597;38227154;39128373;497175;5013373;5773090;5862532;6220203;6777177;6838677;7206363;7217086;7574697;7625847;7802672;7903454;8215449;8627510;8631948;8637342;8647857;8809086;8946475;8975785;9028626;9103523;9110362;9144407;9247584;931988;9435160;9618440;9644715;975718;9842986;9866708;9884161;9920851", "class_list": "", "function": "A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids and steroids (PubMed:12865317, PubMed:15766564, PubMed:19965576, PubMed:21576599, PubMed:7574697, PubMed:9435160, PubMed:9866708). 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) (PubMed:12865317, PubMed:15766564, PubMed:19965576, PubMed:21576599, PubMed:7574697, PubMed:9435160, PubMed:9866708). Catalyzes the epoxidation of double bonds of polyunsaturated fatty acids (PUFA) (PubMed:15766564, PubMed:19965576, PubMed:7574697, PubMed:9866708). Catalyzes the hydroxylation of carbon-hydrogen bonds. Metabolizes cholesterol toward 25-hydroxycholesterol, a physiological regulator of cellular cholesterol homeostasis (PubMed:21576599). Exhibits low catalytic activity for the formation of catechol estrogens from 17beta-estradiol (E2) and estrone (E1), namely 2-hydroxy E1 and E2 (PubMed:12865317). Catalyzes bisallylic hydroxylation and hydroxylation with double-bond migration of polyunsaturated fatty acids (PUFA) (PubMed:9435160, PubMed:9866708). Also metabolizes plant monoterpenes such as limonene. Oxygenates (R)- and (S)-limonene to produce carveol and perillyl alcohol (PubMed:11950794). Contributes to the wide pharmacokinetics variability of the metabolism of drugs such as S-warfarin, diclofenac, phenytoin, tolbutamide and losartan (PubMed:25994031)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Association of variants in the ABCB1, CYP2C19 and CYP2C9 genes for Juvenile Myoclonic Epilepsy., [RefSeq, PubMed]; Genetic variation of CYP2C9 gene and its correlation with cardiovascular disease risk factors. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of the effects of pathogenic genetic variations of human CYP2C9 and CYP2D6: an in silico approach., [RefSeq, PubMed]; Impact of CYP2C9*2 and *3 polymorphisms on valproate-associated adverse drug reactions in individuals living with epilepsy: a case-control study., [RefSeq, PubMed]; Polycyclic aromatic hydrocarbon and its adducts in peripheral blood: Gene and environment interaction among Chinese population., [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 its expression is induced by rifampin. The enzyme is known to metabolize many xenobiotics, including phenytoin, tolbutamide, ibuprofen and S-warfarin. Studies identifying individuals who are poor metabolizers of phenytoin and tolbutamide suggest that this gene is polymorphic. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. [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": 24, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 19, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "P11713;Q16756;Q16872;Q5VX92;Q6IRV8;Q8WW80", "ec_number_list": "1.14.14.1;4.2.1.152;1.14.13.n7;1.14.14.55;1.14.14.56;1.14.14.73;1.14.14.-;1.14.14.14;1.14.14.51;1.14.14.52;1.14.14.53;1.14.13.-;1.14.14.75;5.4.4.7;1.14.14.74;1.14.14.78;1.14.14.79;1.14.14.94;1.14.14.80;1.14.14.130;5.3.99.5", "go_molecular_function": "GO:0008404 arachidonate 14,15-epoxygenase activity;GO:0008405 arachidonate 11,12-epoxygenase activity;GO:0018675 (S)-limonene 6-monooxygenase activity;GO:0018676 (S)-limonene 7-monooxygenase activity;GO:0052741 (R)-limonene 6-monooxygenase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0043231 intracellular membrane-bounded organelle;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0008210 estrogen metabolic process;GO:0016098 monoterpenoid metabolic process;GO:0097267 omega-hydroxylase P450 pathway;GO:0046456 icosanoid biosynthetic process;GO:0008203 cholesterol metabolic process", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "P11712-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P33260-1", "uniprot_id": "CP2CI_HUMAN", "mass": 55711.0, "length": 490, "protein_name": "Cytochrome P450 2C18", "gene_name": "CYP2C18", "organism": "Human", "refseq_name": "cytochrome P450 2C18 isoform 1", "refseq_ac": "NP_000763", "gene_names_uniprotkb": "CYP2C18", "gene_names_refseq": "CPCI; CYP2C17; CYP2C18; CYP2C; P450-6B/29C; P450IIC17", "protein_names_uniprotkb": "Cytochrome P450 2C18; 1.14.14.1; CYPIIC18; Cytochrome P450-6b/29c", "protein_names_refseq": "(S)-mephenytoin hydroxylase associated cytochrome P450; CYPIIC18; cytochrome P450 2C18 isoform 1; cytochrome P450 2C18; cytochrome P450, family 2, subfamily C, polypeptide 18; cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 17; cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18; cytochrome P450-6B/29C; flavoprotein-linked monooxygenase; microsomal monooxygenase; unspecific monooxygenase", "tax_id": 9606, "disease": "childhood-onset asthma (Disease Ontology:DOID:0080815); atopic dermatitis 2 (Disease Ontology:DOID:0110098); keratoconus (Disease Ontology:DOID:10126); leprosy (Disease Ontology:DOID:1024); hypertension (Disease Ontology:DOID:10763); depressive disorder (Disease Ontology:DOID:1596); ichthyosis vulgaris (Disease Ontology:DOID:1702); irritant dermatitis (Disease Ontology:DOID:2772); asthma (Disease Ontology:DOID:2841); food allergy (Disease Ontology:DOID:3044); atopic dermatitis (Disease Ontology:DOID:3310); allergic rhinitis (Disease Ontology:DOID:4481); end stage renal disease (Disease Ontology:DOID:783)", "pathway": " (hsa:1562); (R-HSA-211981)", "pathway_count": 2, "publication_count": 33, "publication_id_list": "10383923;11093772;12464245;12629583;15196988;15302935;15365656;15454734;15665333;16359177;16963442;2009263;2025243;20453000;20529763;21798861;26992070;29557506;31154438;31844290;33759177;35051231;35580925;36284347;37217939;6220203;7217086;7903454;8333835;8647857;8975785;9644715;9842986", "class_list": "", "function": "A Novel CYP2C-Haplotype Associated With Ultrarapid Metabolism of Escitalopram., [RefSeq, PubMed]; A cytochrome P450 monooxygenase involved in retinoid metabolism. Hydroxylates all trans-retinoic acid (atRA) to 4-hydroxyretinoate and may modulate atRA signaling and clearance. 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]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; These results suggest that there is no notable influence of sequence variation in the CYP2C genes on longevity in the examined German population, [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 but its specific substrate has not yet been determined. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. An additional gene, CYP2C17, was once thought to exist; however, CYP2C17 is now considered an artefact based on a chimera of CYP2C18 and CYP2C19. Alternatively spliced 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 13, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R8K2;Q16703;Q16751;Q4VAT5;Q6GRG1", "ec_number_list": "1.14.14.1;4.2.1.152;1.14.13.n7;1.14.14.55;1.14.14.56;1.14.14.73;1.14.14.-;1.14.14.51;1.14.14.52;1.14.14.53;1.14.13.-;1.14.14.75;1.14.14.78;1.14.14.79;1.14.14.94;1.14.14.80;1.14.14.130;5.3.99.5", "go_molecular_function": "GO:0008401 retinoic acid 4-hydroxylase activity;GO:0071614 linoleic acid epoxygenase activity;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_cellular_component": "GO:0005737 cytoplasm;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0042572 retinol metabolic process;GO:0042573 retinoic acid metabolic process;GO:0006805 xenobiotic metabolic process;GO:0042178 xenobiotic catabolic process;GO:0019373 epoxygenase P450 pathway", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "P33260-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q14093-1", "uniprot_id": "CYLC2_HUMAN", "mass": 39079.0, "length": 348, "protein_name": "Cylicin-2", "gene_name": "CYLC2", "organism": "Human", "refseq_name": "cylicin-2", "refseq_ac": "NP_001331", "gene_names_uniprotkb": "CYLC2; CYL2", "gene_names_refseq": "CYLC2", "protein_names_uniprotkb": "Cylicin-2; Cylicin II; Multiple-band polypeptide II", "protein_names_refseq": "cylicin II; cylicin, basic protein of sperm head cytoskeleton 2; cylicin-2; multiple-band polypeptide II", "tax_id": 9606, "disease": "type 2 diabetes mellitus (Disease Ontology:DOID:9352); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:1539)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "18978678;20677014;30379171;30620550;32157095;38013430;7737358", "class_list": "", "function": "Cylicin II (CYCL2) is specifically expressed in testis and is part of the cytoskeletal calyx of mammalian sperm heads. Cylicin II may play a role in the morphogenesis of the sperm head. [provided by RefSeq, Jul 2008]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Plays a role in the establishment of normal sperm morphology during spermatogenesis. It is required for acrosome attachment to the nuclear envelope, and proper manchette elongation and disassembly., [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": 31, "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": "B2R8F4;Q5VVJ9", "ec_number_list": "", "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton", "go_cellular_component": "GO:0005634 nucleus;GO:0033150 cytoskeletal calyx;GO:0033011 perinuclear theca;GO:0120238 sperm glycocalyx", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q14093-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q16696-1", "uniprot_id": "CP2AD_HUMAN", "mass": 56688.0, "length": 494, "protein_name": "Cytochrome P450 2A13", "gene_name": "CYP2A13", "organism": "Human", "refseq_name": "cytochrome P450 2A13", "refseq_ac": "NP_000757", "gene_names_uniprotkb": "CYP2A13", "gene_names_refseq": "CPAD; CYP2A13; CYP2A; CYPIIA13", "protein_names_uniprotkb": "Cytochrome P450 2A13; 1.14.14.1; CYPIIA13", "protein_names_refseq": "cytochrome P450 2A13; cytochrome P450, family 2, subfamily A, polypeptide 13; cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13", "tax_id": 9606, "disease": "", "pathway": " (hsa:1553); (R-HSA-211935); (R-HSA-211981); (R-HSA-211999); (R-HSA-5423646)", "pathway_count": 5, "publication_count": 74, "publication_id_list": "10383923;10731522;10741631;11016631;11162607;11409944;11701230;11904223;12130698;12144777;12464245;12629583;12721789;12727802;12933810;15006160;1504254;15063809;15196988;15365656;15454734;15618722;15665333;16359177;16385575;1643250;1664256;16970545;17428784;17540336;18357469;18416522;18779312;19463;2025243;24715725;2573352;29652224;30807688;32325220;33327254;33703988;3372534;33968037;34509645;34830188;35051231;35580925;3931076;497175;6220203;7217086;7668294;7764673;7766804;7903454;8439558;8627510;8631948;8637342;8647857;8703034;8812420;8913342;8914854;8975785;9028626;9103523;9278457;9576847;9600267;9644715;9842986;9884161", "class_list": "", "function": "Association between CYP2A13 polymorphisms and lung cancer: A protocol for systematic review and meta-analysis., [RefSeq, PubMed]; Exhibits a coumarin 7-hydroxylase activity. Active in the metabolic activation of hexamethylphosphoramide, N,N-dimethylaniline, 2'-methoxyacetophenone, N-nitrosomethylphenylamine, and the tobacco-specific carcinogen, 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone. Possesses phenacetin O-deethylation activity., [UniProtKB, PubMed]; Functional analysis of variations in P450 2A13 allelic variants may help to understand the consequences of P450 2A13 polymorphism in bioactivation of many tobacco-derived carcinogens., [RefSeq, PubMed]; Genetic and Enzymatic Characteristics of CYP2A13 in Relation to Lung Damage. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Molecular docking and oxidation kinetics of 3-phenyl coumarin derivatives by human CYP2A13., [RefSeq, PubMed]; Study provides evidence that CYP2A13 gene polymorphisms may be candidate biomarkers of lung cancer susceptibility in Chinese., [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. Although its endogenous substrate has not been determined, it is known to metabolize 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone, a major nitrosamine specific to tobacco. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [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": 10, "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": "Q53YR8;Q6R569;Q6R570;Q9H2X2", "ec_number_list": "1.14.14.1;4.2.1.152;1.14.13.n7;1.14.14.55;1.14.14.56;1.14.14.73;1.14.14.-;1.14.14.51;1.14.14.52;1.14.14.53;1.14.13.-;1.14.14.75;5.4.4.7;1.14.14.74;1.14.14.78;1.14.14.79;1.14.14.94;1.14.14.80;1.14.14.130;5.3.99.5", "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:0008392 arachidonate epoxygenase activity;GO:0004497 monooxygenase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006805 xenobiotic metabolic process;GO:0019373 epoxygenase P450 pathway;GO:0009804 coumarin metabolic process;GO:0046222 aflatoxin metabolic process", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q16696-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q494V2-1", "uniprot_id": "CP100_HUMAN", "mass": 71117.0, "length": 611, "protein_name": "Cilia- and flagella-associated protein 100", "gene_name": "CFAP100", "organism": "Human", "refseq_name": "cilia- and flagella-associated protein 100", "refseq_ac": "NP_872434", "gene_names_uniprotkb": "CFAP100; CCDC37", "gene_names_refseq": "CCDC37; CFAP100; MIA1", "protein_names_uniprotkb": "Cilia- and flagella-associated protein 100; Coiled-coil domain-containing protein 37", "protein_names_refseq": "cilia- and flagella-associated protein 100; coiled-coil domain containing 37; coiled-coil domain-containing protein 37", "tax_id": 9606, "disease": "", "pathway": " (hsa:348807)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;20068231;22011669;28228285;29557506;30379171;34932366;37192300;40593606", "class_list": "", "function": "Microtubule-associated protein that promotes microtubule polymerization and regulates microtubule organization (PubMed:37192300). Plays a critical role in ensuring proper epidermal development and function by regulating mitosis in keratinocytes (PubMed:40593606). Maintains spindle pole integrity during keratinocyte division through the recruitment of the microtubule glutamylase TTLL13 to spindle poles, thereby enhancing localized microtubule glutamylation (PubMed:40593606). This modification stabilizes spindle microtubules, ensuring accurate spindle assembly, faithful chromosome segregation, and efficient mitotic progression (PubMed:40593606). May play a role in ciliary/flagellar motility by regulating the assembly and the activity of axonemal inner dynein arm., [UniProtKB, UniProtKB, PubMed]; We confirmed that the expression of CCDC37 in squamous cell carcinoma is regulated by DNA methylation of its specific promoter region., [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": 2, "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": 3, "binding_glycan_count": 0, "secondary_ac_list": "D3DNA8;Q494V1;Q494V4;Q8N838", "ec_number_list": "", "go_molecular_function": "GO:0070840 dynein complex binding", "go_cellular_component": "GO:0031514 motile cilium;GO:0036064 ciliary basal body;GO:0097545 axonemal doublet microtubule", "go_biological_process": "GO:0003341 cilium movement;GO:0036159 inner dynein arm assembly", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q494V2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5JRM2-1", "uniprot_id": "CX066_HUMAN", "mass": 39944.0, "length": 361, "protein_name": "Uncharacterized protein CXorf66", "gene_name": "CXorf66", "organism": "Human", "refseq_name": "uncharacterized protein CXorf66 precursor", "refseq_ac": "NP_001013421", "gene_names_uniprotkb": "CXorf66", "gene_names_refseq": "CXorf66; SGPX", "protein_names_uniprotkb": "Uncharacterized protein CXorf66", "protein_names_refseq": "RP11-35F15.2; secreted glycoprotein, X-linked; uncharacterized protein CXorf66 precursor; uncharacterized protein CXorf66", "tax_id": 9606, "disease": "", "pathway": " (hsa:347487)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "24709545;28411811;31530632;35051231", "class_list": "", "function": "The SGPX gene is a putative novel cancer biomarker. [Meta-analysis], [RefSeq, PubMed]; The protein encoded by this gene is predicted to be a type I membrane protein, however, its exact function is not known. [provided by RefSeq, Sep 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": 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": 13, "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:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q5JRM2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5T442-1", "uniprot_id": "CXG2_HUMAN", "mass": 47002.0, "length": 439, "protein_name": "Gap junction gamma-2 protein", "gene_name": "GJC2", "organism": "Human", "refseq_name": "gap junction gamma-2 protein", "refseq_ac": "NP_065168", "gene_names_uniprotkb": "GJC2; GJA12", "gene_names_refseq": "CX46.6; Cx47; GJA12; GJC2; HLD2; LMPH1C; LMPHM3; PMLDAR; SPG44", "protein_names_uniprotkb": "Gap junction gamma-2 protein; Connexin-46.6; Connexin-47; Cx46.6; Cx47; Gap junction alpha-12 protein", "protein_names_refseq": "connexin-46.6; connexin-47; gap junction alpha-12 protein; gap junction gamma-2 protein; gap junction protein, gamma 2, 47kDa", "tax_id": 9606, "disease": "hypomyelinating leukodystrophy 2 (Disease Ontology:DOID:0060787); hereditary lymphedema IC (Disease Ontology:DOID:0070208); hereditary spastic paraplegia 44 (Disease Ontology:DOID:0110796); Parkinson's disease (Disease Ontology:DOID:14330); lymphedema (Disease Ontology:DOID:4977)", "pathway": " (hsa:57165); (R-HSA-190861)", "pathway_count": 2, "publication_count": 16, "publication_id_list": "10191254;15192806;15536180;17200141;1850831;19056803;20537300;30620550;31154438;32161166;33936100;34994518;35276347;36446400;37189458;7929580", "class_list": "", "function": "Activation of the unfolded protein response by Connexin47 mutations associated with Pelizaeus-Merzbacher-like disease., [RefSeq, PubMed]; Lack of embryonic homozygous or adult heterozygous lymphatic phenotypes for a Sos1 mutation and lack of lymphatic embryonic phenotypes for a homozygous Cx47 mutation in mice., [RefSeq, PubMed]; Mechanisms of Diseases Associated with Mutation in GJC2/Connexin 47. Review article 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. May play a role in myelination in central and peripheral nervous systems., [UniProtKB, PubMed]; Resequencing of VEGFR3 pathway genes implicate GJC2 and FLT4 in the formation of primary congenital chylothorax., [RefSeq, PubMed]; This gene encodes a gap junction protein. Gap junction proteins are members of a large family of homologous connexins and comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This gene plays a key role in central myelination and is involved in peripheral myelination in humans. Defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1. [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "O43440;Q7Z7J2;Q8IWJ9", "ec_number_list": "", "go_molecular_function": "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:0043209 myelin sheath;GO:0005921 gap junction;GO:0005922 connexin complex", "go_biological_process": "GO:0007267 cell-cell signaling;GO:0010644 cell communication by electrical coupling", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q5T442-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5W186-1", "uniprot_id": "CST9_HUMAN", "mass": 18135.0, "length": 159, "protein_name": "Cystatin-9", "gene_name": "CST9", "organism": "Human", "refseq_name": "cystatin-9 precursor", "refseq_ac": "NP_001008693", "gene_names_uniprotkb": "CST9; CLM; CTES7A", "gene_names_refseq": "CLM; CST9; CTES7A", "protein_names_uniprotkb": "Cystatin-9; Cystatin-like molecule", "protein_names_refseq": "cystatin-9 precursor; cystatin-like molecule; testatin", "tax_id": 9606, "disease": "", "pathway": " (hsa:128822)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "12535658;20565543;23922243", "class_list": "", "function": "Data report the cloning of a novel human cystatin-like molecule (CLM) from human bone marrow stromal cell (BMSC) cDNA library., [RefSeq, PubMed]; May be involved in testis development (By similarity). May play a role in hematopoietic differentiation or inflammation (PubMed:12535658). Has immunomodulatory and antimicrobial functions against Francisella tularensis, a Gram-negative bacteria (PubMed:23922243)., [UniProtKB, PubMed, UniProtKB, PubMed]; The current report is the first to show the immunomodulatory and antimicrobial functions of rCST9 against Francisella tularensis. 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 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 a secreted protein that may play a role in hematopoietic differentiation or inflammation. [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": 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": "B2RP76;Q8TD53", "ec_number_list": "", "go_molecular_function": "GO:0004869 cysteine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0019730 antimicrobial humoral response", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q5W186-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5W188-1", "uniprot_id": "CST9P_HUMAN", "mass": 17316.0, "length": 147, "protein_name": "Putative cystatin-9-like protein CST9LP1", "gene_name": "CST9LP1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "CST9LP1", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative cystatin-9-like protein CST9LP1; Cystatin-9-like pseudogene 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "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": 0, "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:0004869 cysteine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0019730 antimicrobial humoral response", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q5W188-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6NT55-1", "uniprot_id": "CP4FN_HUMAN", "mass": 61958.0, "length": 531, "protein_name": "Ultra-long-chain fatty acid omega-hydroxylase", "gene_name": "CYP4F22", "organism": "Human", "refseq_name": "ultra-long-chain fatty acid omega-hydroxylase", "refseq_ac": "NP_775754", "gene_names_uniprotkb": "CYP4F22", "gene_names_refseq": "ARCI5; CYP4F22; INLNE; LI3", "protein_names_uniprotkb": "Ultra-long-chain fatty acid omega-hydroxylase; 1.14.14.177; Cytochrome P450 4F22", "protein_names_refseq": "cytochrome P450 4F22; cytochrome P450, family 2, subfamily E, polypeptide 2 homolog; cytochrome P450, family 4, subfamily F, polypeptide 22; ultra-long-chain fatty acid omega-hydroxylase", "tax_id": 9606, "disease": "autosomal recessive congenital ichthyosis 5 (Disease Ontology:DOID:0060714)", "pathway": " (hsa:126410); (R-HSA-211935); (R-HSA-211958); (R-HSA-211979); (R-HSA-2142691); (R-HSA-5579005)", "pathway_count": 6, "publication_count": 62, "publication_id_list": "10064732;10405341;10779545;10791960;11160876;11162607;11844797;12711469;1359745;14660610;15006160;15548719;15604543;16436457;16677611;16795963;18034255;18065749;18184802;1848634;18647347;19743890;20436887;21447318;23076889;26056268;27046942;2753893;2768222;2836406;2864155;2866075;2877850;2882965;29133059;2995393;3006030;3020588;30669;31020658;3118366;3164719;32069299;33067036;34171305;35051231;3563417;3933675;6122208;6293969;6490615;7937884;8052639;8394361;8576264;8631948;8913342;8914854;9461497;9539102;9600267;9799565", "class_list": "", "function": "A cytochrome P450 monooxygenase involved in epidermal ceramide biosynthesis. Hydroxylates the terminal carbon (omega-hydroxylation) of ultra-long-chain fatty acyls (C28-C36) prior to ceramide synthesis (PubMed:26056268). Contributes to the synthesis of three classes of omega-hydroxy-ultra-long chain fatty acylceramides having sphingosine, 6-hydroxysphingosine and phytosphingosine bases, all major lipid components that underlie the permeability barrier of the stratum corneum (PubMed:26056268). 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:26056268)., [UniProtKB, PubMed]; Impaired production of the skin barrier lipid acylceramide by CYP4F22 ichthyosis mutations., [RefSeq, PubMed]; Study reports a consanguineous family from Southern Tunisia including three members affected with congenital ichthyosis likely due to a novel missense mutation c.728G>T (p.Arg243Leu) in exon 8 of CYP4F2., [RefSeq, PubMed]; The present study reports five CYP4F22 mutations, two of them novel, increasing the number of CYP4F22 mutations currently listed. Additionally, our results suggest that the recurrent c.1303C>T change has a founder effect in Spanish population and c.1303C>T carrier families originated from a single ancestor with probable African ancestry. 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 gene is part of a cluster of cytochrome P450 genes on chromosome 19 and encodes an enzyme thought to play a role in the 12(R)-lipoxygenase pathway. Mutations in this gene are the cause of ichthyosis lamellar type 3. [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": 16, "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": "Q8N8H4", "ec_number_list": "1.14.14.1;1.14.14.78;1.14.14.79;1.14.14.94;1.14.14.80;1.14.14.177", "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:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006690 icosanoid metabolic process;GO:0046513 ceramide biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q6NT55-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6NXN4-1", "uniprot_id": "D19P1_HUMAN", "mass": 28036.0, "length": 242, "protein_name": "Putative C-mannosyltransferase DPY19L2P1", "gene_name": "DPY19L2P1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "DPY19L2P1", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative C-mannosyltransferase DPY19L2P1; 2.4.1.-; Dpy-19-like protein 2 pseudogene 1; Protein dpy-19 homolog 2-like 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "16526957;32938616;35051231", "class_list": "glycogene;glycosyltransferase", "function": "Probable C-mannosyltransferase that mediates C-mannosylation of tryptophan residues on target proteins., [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": "B4E2E3", "ec_number_list": "", "go_molecular_function": "GO:0016757 glycosyltransferase activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q6NXN4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6UWD8-1", "uniprot_id": "CP054_HUMAN", "mass": 24360.0, "length": 224, "protein_name": "Transmembrane protein C16orf54", "gene_name": "C16orf54", "organism": "Human", "refseq_name": "transmembrane protein C16orf54", "refseq_ac": "NP_787096", "gene_names_uniprotkb": "C16orf54; PRO34280", "gene_names_refseq": "C16orf54; SAIL", "protein_names_uniprotkb": "Transmembrane protein C16orf54", "protein_names_refseq": "Surface Antigen In Leukemia; transmembrane protein C16orf54", "tax_id": 9606, "disease": "", "pathway": " (hsa:283897)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "12975309;22171320;24715725;25502872;25548167;26992070;28218747;28467828;29242379;29437277;29557506;30237853;30315122;30524438;32265295;32350084;32387766;32983136;33298915;33912179;33936100;35051231;36118669", "class_list": "", "function": "Integrated Analysis of C16orf54 as a Potential Prognostic, Diagnostic, and Immune Marker across Pan-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": 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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 8030, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NJR6;Q8NAB0", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q6UWD8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6UXB2-1", "uniprot_id": "CXL17_HUMAN", "mass": 13819.0, "length": 119, "protein_name": "C-X-C motif chemokine 17", "gene_name": "CXCL17", "organism": "Human", "refseq_name": "C-X-C motif chemokine 17 precursor", "refseq_ac": "NP_940879", "gene_names_uniprotkb": "CXCL17; PRO842; VCC1", "gene_names_refseq": "CXCL17; DMC; Dcip1; UNQ473; VCC-1; VCC1", "protein_names_uniprotkb": "C-X-C motif chemokine 17; 6-Cys CXCL17; DMC; Dendritic cell and monocyte chemokine-like protein; VEGF coregulated chemokine 1", "protein_names_refseq": "6-Cys CXCL17; C-X-C motif chemokine 17 precursor; C-X-C motif chemokine 17; VEGF co-regulated chemokine 1; VEGF coregulated chemokine 1; chemokine (C-X-C motif) ligand 17; dendritic cell and monocyte chemokine-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:284340)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11237011;12975309;15340161;16455961;16989774;17307946;22611239;23115081;25411203;25946035;29068046;29875152;32157095;38279626;38453037;39293486;40279398", "class_list": "", "function": "Analysis of the mucosal chemokines CCL28, CXCL14, and CXCL17 in dry eye disease: An in vitro and clinical investigation., [RefSeq, PubMed]; CXCL17 induces activation of human mast cells via MRGPRX2., [RefSeq, PubMed]; Chemokine that acts as a chemoattractant for monocytes, macrophages and dendritic cells, and which is involved in immune regulation and lymphocyte trafficking (PubMed:16455961, PubMed:23115081, PubMed:39293486, PubMed:40279398). Activates the C-X-C chemokine receptor GPR25 (PubMed:39293486, PubMed:40279398). Plays a key role in lymphocyte homing by activating the receptor GPR25 on lymphocytes, mediating lymphocyte recruitment into the respiratory, upper gastrointestinal, biliary and genito-urinary tracts (PubMed:39293486, PubMed:40279398). Plays a role in angiogenesis and possibly in the development of tumors (PubMed:16989774, PubMed:23115081). Acts as an anti-inflammatory in the stomach (PubMed:23115081). May play a role in the innate defense against infections (PubMed:17307946)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; DMC induces migration of monocytes and immature dendritic cells. Expression studies show that DMC is constitutively expressed in lung, suggesting a potential role for DMC in recruiting monocytes and dendritic cells from blood into lung parenchyma, [RefSeq, PubMed]; Seems to exhibit much higher chemoattractant potency on monocytes and macrophages than 6-Cys CXCL17., [UniProtKB, PubMed]; The protein encoded by this gene is a mucosal chemokine that attracts immature dendritic cells and blood monocytes to the lungs. The encoded protein also promotes tumorigenesis through an angiogenic activity. Finally, this protein exhibits strong antimicrobial activity against E. coli, S. aureus, Salmonella, P. aeruginosa, and C. albicans. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2015]., [RefSeq]; VCC1 plays a role in angiogenesis and possibly in the development of tumors in some tissue types, [RefSeq, PubMed]; We conclude that CXCL17 is an antimicrobial mucosal chemokine that may play a role in the pathogenesis of interstitial lung 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": 6, "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": "A8KAC0", "ec_number_list": "", "go_molecular_function": "GO:0042056 chemoattractant activity;GO:0008009 chemokine activity", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0001525 angiogenesis;GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0016477 cell migration;GO:0030154 cell differentiation;GO:0070098 chemokine-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q6UXB2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z5Q1-2", "uniprot_id": "CPEB2_HUMAN", "mass": 64944.0, "length": 589, "protein_name": "Cytoplasmic polyadenylation element-binding protein 2", "gene_name": "CPEB2", "organism": "Human", "refseq_name": "cytoplasmic polyadenylation element-binding protein 2 isoform C", "refseq_ac": "NP_001170852", "gene_names_uniprotkb": "CPEB2", "gene_names_refseq": "CPE-BP2; CPEB-2; CPEB2; hCPEB-2", "protein_names_uniprotkb": "Cytoplasmic polyadenylation element-binding protein 2; CPE-BP2; CPE-binding protein 2; hCPEB-2", "protein_names_refseq": "CPE-binding protein 2; cytoplasmic polyadenylation element-binding protein 2 isoform C", "tax_id": 9606, "disease": "", "pathway": " (hsa:132864)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "12672660;26398195;27869121;27920218;28218747;28228285;28514659;28904123;29508533;30833945;32440535;34362680;36064747;37231521;38158431", "class_list": "", "function": "A p53/CPEB2 negative feedback loop regulates renal cancer cell proliferation and migration., [RefSeq, PubMed]; CPEB2 enhances cell growth and angiogenesis by upregulating ARPC5 mRNA stability in multiple myeloma. Publication Status: Online-Only, [RefSeq, PubMed]; CPEB2 inhibit cell proliferation through upregulating p21 mRNA stability in glioma. Publication Status: Online-Only, [RefSeq, PubMed]; CPEB2 m6A methylation regulates blood-tumor barrier permeability by regulating splicing factor SRSF5 stability. Publication Status: Online-Only, [RefSeq, PubMed]; Functional studies of the mouse homolog, [RefSeq, PubMed]; May play a role in translational regulation of stored mRNAs in transcriptionally inactive haploid spermatids. Binds to poly(U) RNA oligomers (By similarity). Required for cell cycle progression, specifically for the transition from metaphase to anaphase (PubMed:26398195)., [UniProtKB, UniProtKB, PubMed]; The RNA binding protein CPEB2 regulates hormone sensing in mammary gland development and luminal breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is highly similar to cytoplasmic polyadenylation element binding protein (CPEB), an mRNA-binding protein that regulates cytoplasmic polyadenylation of mRNA as a trans factor in oogenesis and spermatogenesis. Studies of the similar gene in mice suggested a possible role of this protein in transcriptionally inactive haploid spermatids. Alternatively spliced transcript variants encoding distinct 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "E7EPM3;F5H160;Q3B8N6;Q3MI89;Q3MI90;Q3MI92;Q7Z5Q0", "ec_number_list": "", "go_molecular_function": "GO:0000900 mRNA regulatory element binding translation repressor activity;GO:0003723 RNA binding;GO:0005095 GTPase inhibitor activity;GO:0043024 ribosomal small subunit binding;GO:0008135 translation factor activity, RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0045202 synapse;GO:0043005 neuron projection", "go_biological_process": "GO:0032869 cellular response to insulin stimulus;GO:0071456 cellular response to hypoxia;GO:1900248 negative regulation of cytoplasmic translational elongation;GO:2000766 negative regulation of cytoplasmic translation", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q7Z5Q1-2", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IZN7-1", "uniprot_id": "D107A_HUMAN", "mass": 7846.0, "length": 70, "protein_name": "Beta-defensin 107", "gene_name": "DEFB107A; DEFB107B", "organism": "Human", "refseq_name": "beta-defensin 107 precursor", "refseq_ac": "NP_001032757", "gene_names_uniprotkb": "DEFB107A; DEFB107B; DEFB107; DEFB7", "gene_names_refseq": "BD-7; DEFB-7; DEFB107A; DEFB107", "protein_names_uniprotkb": "Beta-defensin 107; BD-7; Beta-defensin 7; DEFB-7; Defensin, beta 107", "protein_names_refseq": "beta-defensin 107 precursor; beta-defensin 107; beta-defensin 7; defensin, beta 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:245910); (hsa:503614); (R-HSA-1461957); (R-HSA-1461973)", "pathway_count": 4, "publication_count": 16, "publication_id_list": "10521347;10914484;11085990;11702237;11854508;11934878;12734011;12949495;16033865;18006661;20214904;20385753;20483750;21122132;24552181;9541493", "class_list": "", "function": "Data indicate the copy number variation (CNV) of beta-defensin gene cluster for six indels between ~1 kb distal of DEFB108P and 10 kb proximal of DEFB107. Publication Status: Online-Only, [RefSeq, PubMed]; 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. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 107, DEFB107A and DEFB107B, in tail-to-tail orientation. This gene, DEFB107A, represents the more centromeric copy. [provided by RefSeq, Oct 2014]., [RefSeq]; Has antibacterial activity., [UniProtKB]; This protein is thought to have 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": 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": "B2RPM1;Q30E75;Q8NET2", "ec_number_list": "", "go_molecular_function": "GO:0008289 lipid binding", "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": 1.7, "record_id": "Q8IZN7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N104-1", "uniprot_id": "D106A_HUMAN", "mass": 7369.0, "length": 65, "protein_name": "Beta-defensin 106", "gene_name": "DEFB106A; DEFB106B", "organism": "Human", "refseq_name": "beta-defensin 106 precursor", "refseq_ac": "NP_001035794", "gene_names_uniprotkb": "DEFB106A; DEFB106B; BD6; DEFB106; DEFB6", "gene_names_refseq": "BD-6; DEFB-6; DEFB106B", "protein_names_uniprotkb": "Beta-defensin 106; BD-6; Beta-defensin 6; DEFB-6; Defensin, beta 106", "protein_names_refseq": "beta-defensin 106 precursor; beta-defensin 106; beta-defensin 6; defensin, beta 106", "tax_id": 9606, "disease": "", "pathway": " (hsa:245909); (hsa:503841); (R-HSA-1461957); (R-HSA-1461973)", "pathway_count": 4, "publication_count": 18, "publication_id_list": "10521347;10914484;11085990;11702237;11854508;11934878;12193721;12600824;12734011;12949495;18006661;20214904;20385753;20483750;21122132;23938203;24189797;9541493", "class_list": "", "function": "DEFB106 (also known as DEFB6) displays antimicrobial activity against E. coli, C. albicans and S. aureus., [RefSeq, PubMed]; 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. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 106, DEFB106A and DEFB106B, in head-to-head orientation. This gene, DEFB106B, represents the more telomeric copy. [provided by RefSeq, Oct 2014]., [RefSeq]; Has antibacterial activity (PubMed:12600824). Acts as a ligand for C-C chemokine receptor CCR2 (PubMed:23938203)., [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": 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": "Q2NKR0;Q496I8", "ec_number_list": "", "go_molecular_function": "GO:0008201 heparin binding;GO:0001530 lipopolysaccharide binding;GO:0031727 CCR2 chemokine receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0016020 membrane;GO:1990742 microvesicle", "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:0061760 antifungal innate immune response", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q8N104-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N144-1", "uniprot_id": "CXD3_HUMAN", "mass": 31933.0, "length": 294, "protein_name": "Gap junction delta-3 protein", "gene_name": "GJD3", "organism": "Human", "refseq_name": "gap junction delta-3 protein", "refseq_ac": "NP_689343", "gene_names_uniprotkb": "GJD3; GJA11; GJC1", "gene_names_refseq": "CX31.9; Cx30.2; GJA11; GJC1; GJD3", "protein_names_uniprotkb": "Gap junction delta-3 protein; Connexin-31.9; Cx31.9; Gap junction alpha-11 protein; Gap junction chi-1 protein", "protein_names_refseq": "connexin-31.9; gap junction alpha-11 protein; gap junction chi-1 protein; gap junction delta-3 protein; gap junction protein, delta 3, 31.9kDa", "tax_id": 9606, "disease": "", "pathway": " (hsa:125111); (R-HSA-190861)", "pathway_count": 2, "publication_count": 19, "publication_id_list": "10191254;12064584;12154091;12176752;12881038;15536180;16772377;17142249;17200141;18291099;1850831;19168070;29557506;32157095;33141287;33141586;35051231;36215666;7929580", "class_list": "", "function": "Connexin 31.9 represents a novel connexin gene that in vivo generates a protein with unique voltage gating properties., [RefSeq, PubMed]; Connexin expression decreases during adipogenic differentiation of human adipose-derived mesenchymal stem cells., [RefSeq, PubMed]; Cx31.9 protein, unlike its counterpart in the mouse, is not expressed in detectable quantities and is thus unlikely to contribute to the impulse generation and conduction system or the working myocardium of the human heart., [RefSeq, PubMed]; Exogenous Cx31 expression induced neurite outgrowth in human neuronal cell lines, but not differentiation in primary human keratinocytes., [RefSeq, PubMed]; Expression patterns differ from mouse orthologs [Cx30.2; Cx40.1], [RefSeq, PubMed]; Hemichannels formed of mCx30.2 and hCx31.9 may slow propagation of excitation in the sinoatrial and atrioventricular nodes by shortening the space constant and depolarizing the excitable membrane, [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]; Our data suggest that connexin30.2 can form heteromers with the other cardiac connexins., [RefSeq, PubMed]; Results describe the identification of a novel human gap junction gene that encodes a protein designated HCx31.9 (connexin 31.9)., [RefSeq, PubMed]; This gene is a member of the large family of connexins that are required for the formation of gap junctions. Six connexin monomers form a hemichannel, or connexon, on the cell surface. This connexon can interact with a connexon from a neighboring cell, thus forming a channel linking the cytoplasm of the 2 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "Q6ZUW6", "ec_number_list": "", "go_molecular_function": "GO:0005216 monoatomic ion channel activity;GO:0086077 gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0005922 connexin complex", "go_biological_process": "GO:0007267 cell-cell signaling;GO:0010459 negative regulation of heart rate;GO:0007154 cell communication;GO:0009749 response to glucose;GO:0016264 gap junction assembly", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q8N144-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N1L1-1", "uniprot_id": "CV037_HUMAN", "mass": 18115.0, "length": 170, "protein_name": "Putative uncharacterized protein encoded by LINC00528", "gene_name": "LINC00528", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "LINC00528; C22orf37", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC00528", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "28904123", "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": "Q8N1L1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NE35-1", "uniprot_id": "CPEB3_HUMAN", "mass": 76014.0, "length": 698, "protein_name": "Cytoplasmic polyadenylation element-binding protein 3", "gene_name": "CPEB3", "organism": "Human", "refseq_name": "cytoplasmic polyadenylation element-binding protein 3 isoform 2", "refseq_ac": "NP_001171608", "gene_names_uniprotkb": "CPEB3; KIAA0940", "gene_names_refseq": "CPEB3", "protein_names_uniprotkb": "Cytoplasmic polyadenylation element-binding protein 3; CPE-BP3; CPE-binding protein 3; hCPEB-3", "protein_names_refseq": "CPE-BP3; CPE-binding protein 3; cytoplasmic polyadenylation element-binding protein 3 isoform 2; hCPEB-3", "tax_id": 9606, "disease": "", "pathway": " (hsa:22849)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "16385451;16990549;18669648;19413330;19503753;20639532;21336257;22730302;24343026;25066254;26398195;26992070;28904123;29437277;30410026;32157095;32387766;32938616;33298915;34509645;34561969;35051231;35102025;35451884;35580925;35658951;36010968;37898314;38000031", "class_list": "", "function": "CPEB3 overexpression caused by miR-106b-5p inhibition inhibits esophageal carcinoma in-vitro progression and metastasis., [RefSeq, PubMed]; CPEB3, an RNA-Binding Protein, Modulates the Behavior of Endometriosis-Derived Stromal Cells via Regulating CXCL12., [RefSeq, PubMed]; Conformational dynamics in the disordered region of human CPEB3 linked to memory consolidation. Publication Status: Online-Only, [RefSeq, PubMed]; Isolation of a ribozyme conserved mammalian sequence that resides in an intron of the CPEB3 gene, [RefSeq, PubMed]; MicroRNA-92a-CPEB3 axis protects neurons against inflammatory neurodegeneration., [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]; Phase separation modulates the functional amyloid assembly of human CPEB3., [RefSeq, PubMed]; Sequence-specific RNA-binding protein which acts as a translational repressor in the basal unstimulated state but, following neuronal stimulation, acts as a translational activator (By similarity). In contrast to CPEB1, does not bind to the cytoplasmic polyadenylation element (CPE), a uridine-rich sequence element within the mRNA 3'-UTR, but binds to a U-rich loop within a stem-loop structure (By similarity). Required for the consolidation and maintenance of hippocampal-based long term memory (By similarity). In the basal state, binds to the mRNA 3'-UTR of the glutamate receptors GRIA2/GLUR2 mRNA and negatively regulates their translation (By similarity). Also represses the translation of DLG4, GRIN1, GRIN2A and GRIN2B (By similarity). When activated, acts as a translational activator of GRIA1 and GRIA2 (By similarity). In the basal state, suppresses SUMO2 translation but activates it following neuronal stimulation (By similarity). Binds to the 3'-UTR of TRPV1 mRNA and represses TRPV1 translation which is required to maintain normal thermoception (By similarity). Binds actin mRNA, leading to actin translational repression in the basal state and to translational activation following neuronal stimulation (By similarity). Negatively regulates target mRNA levels by binding to TOB1 which recruits CNOT7/CAF1 to a ternary complex and this leads to target mRNA deadenylation and decay (PubMed:21336257). In addition to its role in translation, binds to and inhibits the transcriptional activation activity of STAT5B without affecting its dimerization or DNA-binding activity. This, in turn, represses transcription of the STAT5B target gene EGFR which has been shown to play a role in enhancing learning and memory performance (PubMed:20639532). In contrast to CPEB1, CPEB2 and CPEB4, not required for cell cycle progression (PubMed:26398195)., [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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 14, "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": "Q5T389;Q9NQJ7;Q9Y2E9", "ec_number_list": "", "go_molecular_function": "GO:0000900 mRNA regulatory element binding translation repressor activity;GO:0003723 RNA binding;GO:0008135 translation factor activity, RNA binding;GO:0043022 ribosome binding;GO:0003730 mRNA 3'-UTR binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0014069 postsynaptic density;GO:0030425 dendrite;GO:0045202 synapse", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0048167 regulation of synaptic plasticity;GO:0017148 negative regulation of translation;GO:0045727 positive regulation of translation;GO:0007616 long-term memory", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q8NE35-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NET1-1", "uniprot_id": "D108B_HUMAN", "mass": 8326.0, "length": 73, "protein_name": "Beta-defensin 108B", "gene_name": "DEFB108B", "organism": "Human", "refseq_name": "beta-defensin 108B precursor", "refseq_ac": "NP_001002035", "gene_names_uniprotkb": "DEFB108B; DEFB108; DEFB8", "gene_names_refseq": "DEFB-8; DEFB108B; hBD-8", "protein_names_uniprotkb": "Beta-defensin 108B; BD-8; Beta-defensin 8; DEFB-8; Defensin, beta 108B; Defensin, beta 108; hBD-8", "protein_names_refseq": "beta-defensin 108B precursor; beta-defensin 108B; beta-defensin 8; defensin, beta 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:245911); (R-HSA-1461957); (R-HSA-1461973)", "pathway_count": 3, "publication_count": 16, "publication_id_list": "10521347;10914484;11085990;11702237;11854508;11934878;12600824;12734011;12949495;18006661;19194307;20214904;20385753;20483750;21122132;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. A pseudogene of this gene has been found on chromosome 8. [provided by RefSeq, Oct 2014]., [RefSeq]; Has antibacterial activity., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The encoded protein is thought to have 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": 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:0005576 extracellular region", "go_biological_process": "GO:0045087 innate immune response;GO:0042742 defense response to bacterium", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q8NET1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NG35-1", "uniprot_id": "D105A_HUMAN", "mass": 8923.0, "length": 78, "protein_name": "Beta-defensin 105", "gene_name": "DEFB105A; DEFB105B", "organism": "Human", "refseq_name": "beta-defensin 105 precursor", "refseq_ac": "NP_001035793", "gene_names_uniprotkb": "DEFB105A; DEFB105B; BD5; DEFB105; DEFB5", "gene_names_refseq": "BD-5; DEFB-5; DEFB105B", "protein_names_uniprotkb": "Beta-defensin 105; BD-5; Beta-defensin 5; DEFB-5; Defensin, beta 105", "protein_names_refseq": "beta-defensin 105 precursor; beta-defensin 105; beta-defensin 5; defensin, beta 105", "tax_id": 9606, "disease": "", "pathway": " (hsa:245908); (hsa:504180); (R-HSA-1461957); (R-HSA-1461973)", "pathway_count": 4, "publication_count": 15, "publication_id_list": "10521347;10914484;11085990;11702237;11934878;12193721;12734011;12949495;18006661;20214904;20385753;20483750;21122132;21861459;9541493", "class_list": "", "function": "Defensin-beta 105 displays antimicrobial activity against S. aureus and E. coli, among other bacteria., [RefSeq, PubMed]; 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. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 105, DEFB105A and DEFB105B, in tail-to-tail orientation. This gene, DEFB105B, represents the more telomeric copy. [provided by RefSeq, Oct 2014]., [RefSeq]; 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": 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": "A1A581;Q8IZN8", "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": "Q8NG35-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WTQ1-1", "uniprot_id": "D104A_HUMAN", "mass": 8526.0, "length": 72, "protein_name": "Beta-defensin 104", "gene_name": "DEFB104A; DEFB104B", "organism": "Human", "refseq_name": "beta-defensin 104 precursor", "refseq_ac": "NP_001035792", "gene_names_uniprotkb": "DEFB104A; DEFB104B; DEFB104; DEFB4", "gene_names_refseq": "BD-4; DEFB-4; DEFB104B; hBD-4", "protein_names_uniprotkb": "Beta-defensin 104; BD-4; Beta-defensin 4; DEFB-4; Defensin, beta 104; hBD-4", "protein_names_refseq": "beta-defensin 104 precursor; beta-defensin 104; beta-defensin 4; defensin, beta 104", "tax_id": 9606, "disease": "", "pathway": " (hsa:140596); (hsa:503618); (R-HSA-1461957); (R-HSA-1461973)", "pathway_count": 4, "publication_count": 15, "publication_id_list": "10521347;10914484;11085990;11481241;11702237;11934878;12949495;18006661;20214904;20385753;20483750;21122132;21385545;21879330;9541493", "class_list": "", "function": "Beta-defensin 104 displays antimicrobial activity against S. carnosus, E. coli, S. cerevisiae, and P. aeruginosa (strong)., [RefSeq, PubMed]; Data suggest an activation of b-defensin-4 induction, in human knee meniscus by the osteoarthritis inflammatory process as a result of an endogenous antibiotic defense mechanism accompanied by an intrinsic effort of tissue remodeling., [RefSeq, PubMed]; 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. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 104, DEFB104A and DEFB104B, in head-to-head orientation. This gene, DEFB104B, represents the more telomeric copy. [provided by RefSeq, Oct 2014]., [RefSeq]; Has antimicrobial activity. Synergistic effects with lysozyme and DEFB103., [UniProtKB, PubMed]; Our results suggest that copy number variation of DEFB4 may not contribute to the pathogenesis of Behcet's 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": 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": "Q496I2;Q496I3;Q496I4", "ec_number_list": "", "go_molecular_function": "GO:0042056 chemoattractant 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:0050830 defense response to Gram-positive bacterium;GO:0002548 monocyte chemotaxis;GO:0050918 positive chemotaxis", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q8WTQ1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WTQ4-1", "uniprot_id": "CP078_HUMAN", "mass": 30819.0, "length": 265, "protein_name": "Uncharacterized protein C16orf78", "gene_name": "C16orf78", "organism": "Human", "refseq_name": "uncharacterized protein C16orf78", "refseq_ac": "NP_653203", "gene_names_uniprotkb": "C16orf78", "gene_names_refseq": "C16orf78", "protein_names_uniprotkb": "Uncharacterized protein C16orf78", "protein_names_refseq": "uncharacterized protein C16orf78", "tax_id": 9606, "disease": "", "pathway": " (hsa:123970)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "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": 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": "", "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": "Q8WTQ4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WXU2-1", "uniprot_id": "DAAF4_HUMAN", "mass": 48527.0, "length": 420, "protein_name": "Dynein axonemal assembly factor 4", "gene_name": "DNAAF4", "organism": "Human", "refseq_name": "dynein axonemal assembly factor 4 isoform b", "refseq_ac": "NP_001028731", "gene_names_uniprotkb": "DNAAF4; DYX1C1; EKN1", "gene_names_refseq": "CILD25; DNAAF4; DYX1C1; DYX1; DYXC1; EKN1; RD; pf23", "protein_names_uniprotkb": "Dynein axonemal assembly factor 4; Dyslexia susceptibility 1 candidate gene 1 protein", "protein_names_refseq": "dynein assembly factor 4, axonemal; dynein axonemal assembly factor 4 isoform b; dyslexia susceptibility 1 candidate 1; dyslexia susceptibility 1 candidate gene 1 protein", "tax_id": 9606, "disease": "Robinow syndrome (Disease Ontology:DOID:0060254); primary ciliary dyskinesia 25 (Disease Ontology:DOID:0110615); sensorineural hearing loss (Disease Ontology:DOID:10003); dyslexia (Disease Ontology:DOID:4428); dyslexia, susceptibility to, 1 (MONDO:MONDO:0007487)", "pathway": " (hsa:161582)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11237011;12954984;15249932;15470369;15477871;16989952;19423554;23872636;25186273;28041644;29601588;30620550;32387766;32938616;32983136;33174003;33298915;33968037;34509645;37674365;38610086", "class_list": "", "function": "A novel homozygous splice variant in DNAAF4 is associated with asthenozoospermia., [RefSeq, PubMed]; Axonemal dynein assembly factor required for ciliary motility. Involved in neuronal migration during development of the cerebral neocortex. May regulate the stability and proteasomal degradation of the estrogen receptors that play an important role in neuronal differentiation, survival and plasticity., [UniProtKB, PubMed, PubMed]; DYX1C1 interacts with both ERs in the presence of 17beta-estradiol in neurons., [RefSeq, PubMed]; DYX1C1 is unlikely to be a susceptibility gene for developmental dyslexia, [RefSeq, PubMed]; DYX1C1 should be regarded as a candidate gene for developmental dyslexia and localizes to a fraction of cortical neurons and white matter glial cells, [RefSeq, PubMed]; Developmental dyslexia susceptibility genes DNAAF4, DCDC2, and NRSN1 are associated with brain function in fluently reading adolescents and young adults., [RefSeq, PubMed]; Findings provide support for EKN1 as a risk locus for dyslexia and as contributing to reading component processes and reading-related abilities., [RefSeq, PubMed]; Functional characterization of the homologous rat protein., [RefSeq, PubMed]; Novel dynein axonemal assembly factor 1 mutations identified using wholeexome sequencing in patients with primary ciliary dyskinesia., [RefSeq, PubMed]; This gene encodes a tetratricopeptide repeat domain-containing protein. The encoded protein interacts with estrogen receptors and the heat shock proteins, Hsp70 and Hsp90. An homologous protein in rat has been shown to function in neuronal migration in the developing neocortex. A chromosomal translocation involving this gene is associated with a susceptibility to developmental dyslexia. Mutations in this gene are associated with deficits in reading and spelling. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream cell cycle progression 1 (CCPG1) gene. [provided by RefSeq, Mar 2011]., [RefSeq]; Thus it seems unlikely that DYX1C1 gene would be involved in the genetic etiology of autism in Finnish 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": 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": 11, "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": "Q6P5Y9;Q8N1S6", "ec_number_list": "", "go_molecular_function": "GO:0030331 nuclear estrogen receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0043005 neuron projection", "go_biological_process": "GO:0003351 epithelial cilium movement involved in extracellular fluid movement;GO:0007507 heart development;GO:0001764 neuron migration;GO:0007368 determination of left/right symmetry;GO:0003341 cilium movement", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q8WXU2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BQY9-1", "uniprot_id": "DBND2_HUMAN", "mass": 27671.0, "length": 259, "protein_name": "Dysbindin domain-containing protein 2", "gene_name": "DBNDD2", "organism": "Human", "refseq_name": "dysbindin domain-containing protein 2 isoform a", "refseq_ac": "NP_001041686", "gene_names_uniprotkb": "DBNDD2; C20orf35", "gene_names_refseq": "C20orf35; CK1BP; DBNDD2; HSMNP1", "protein_names_uniprotkb": "Dysbindin domain-containing protein 2; CK1BP; Casein kinase-1 binding protein; HSMNP1", "protein_names_refseq": "SCF apoptosis response protein 1; casein kinase-1 binding protein; dysbindin (dystrobrevin binding protein 1) domain containing 2; dysbindin domain-containing protein 2 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:55861)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "10931946;11237011;16305340;16618118;25576301;27397612;28832583;29557506;29789417;31154438;32157095;33592498;33968037;34831053;35051231;35580925;36010968;36241641;36284347", "class_list": "", "function": "CK1BP Reduces alpha-Synuclein Oligomerization and Aggregation Independent of Serine 129 Phosphorylation. Publication Status: Online-Only, [RefSeq, PubMed]; CK1BP is an isoform-selective binding partner of human casein kinase-1, [RefSeq, PubMed]; May modulate the activity of casein kinase-1. Inhibits CSNK1D autophosphorylation (in vitro)., [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": 4, "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": "Q331S6;Q5QPV4;Q5QPV6;Q9BQZ0;Q9BVL1;Q9H1F6;Q9NWZ0;Q9NY07;Q9NZ31", "ec_number_list": "", "go_molecular_function": "GO:0051117 ATPase binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005764 lysosome;GO:0005737 cytoplasm", "go_biological_process": "GO:0006469 negative regulation of protein kinase activity;GO:0009966 regulation of signal transduction", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q9BQY9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H4D0-1", "uniprot_id": "CSTN2_HUMAN", "mass": 107006.0, "length": 955, "protein_name": "Calsyntenin-2", "gene_name": "CLSTN2", "organism": "Human", "refseq_name": "calsyntenin-2 precursor", "refseq_ac": "NP_071414", "gene_names_uniprotkb": "CLSTN2; CS2", "gene_names_refseq": "ALC-GAMMA; CDHR13; CLSTN2; CS2; CSTN2; alcagamma", "protein_names_uniprotkb": "Calsyntenin-2; Alc-gamma; Alcadein-gamma", "protein_names_refseq": "alcadein gamma; cadherin-related family member 13; calsyntenin-2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:64084)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "10.1101/2023.09.13.557529;12498782;12972431;15037614;16959974;18519826;19058786;23090970;24190977;25080189;25892735;26415670;26992070;27397612;29557506;29741879;32387766;32938616;34509645;34673103;35051231;36812656;37074911", "class_list": "", "function": "Alcadein and amyloid beta-protein precursor regulates FE65-dependent gene transactivation [alcalpha1, alcbeta, alcgamma], [RefSeq, PubMed]; Calsyntenin-3 interacts with the sodium-dependent vitamin C transporter-2 to regulate vitamin C uptake., [RefSeq, PubMed]; Calsyntenins play an essential role in learning and this role is modulated both by CLSTN2 genotype and, during adolescent development, by exposure to tobacco smoke. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; KLKB1 and CLSTN2 are associated with HDL-mediated cholesterol efflux capacity in a genome-wide association study., [RefSeq, PubMed]; Postsynaptic adhesion molecule that binds to presynaptic neurexins to mediate synapse formation, and which is involved in learning and memory (By similarity). Promotes synapse development by acting as a cell adhesion molecule at the postsynaptic membrane, which associates with neurexin-alpha at the presynaptic membrane (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Study did not find support for an association of KIBRA either alone or in combination with CLSTN2 with memory performance or hippocampal volume, nor did variation in these genes influence longitudinal memory decline or hippocampal atrophy in older adults, [RefSeq, PubMed]; The results of this study supports the view that effects of KIBRA and CLSTN2 polymorphisms genetic polymorphisms on cognitive functioning may be most easily disclosed at suboptimal levels of cognitive ability, such as in old-age depression., [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": 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 53, "reported_interactions": 0, "missing_score": 8686, "biomarker_type": "", "glycan_count": 6, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B2RCW5;D3DNF4;Q3SX54;Q3ZB76;Q5UE56;Q96HZ2;Q9BSS0", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0098632 cell-cell adhesion mediator activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0000139 Golgi membrane;GO:0009986 cell surface;GO:0030425 dendrite;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0008306 associative learning;GO:0051965 positive regulation of synapse assembly;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:0050806 positive regulation of synaptic transmission;GO:1904862 inhibitory synapse assembly", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q9H4D0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P19875-1", "uniprot_id": "CXCL2_HUMAN", "mass": 11389.0, "length": 107, "protein_name": "C-X-C motif chemokine 2", "gene_name": "CXCL2", "organism": "Human", "refseq_name": "C-X-C motif chemokine 2 precursor", "refseq_ac": "NP_002080", "gene_names_uniprotkb": "CXCL2; GRO2; GROB; MIP2A; SCYB2", "gene_names_refseq": "CINC-2a; CXCL2; GRO2; GROb; MGSA-b; MIP-2a; MIP2A; MIP2; SCYB2", "protein_names_uniprotkb": "C-X-C motif chemokine 2; GRO-beta-T; Gro-beta; Growth-regulated protein beta; HSF; Hematopoietic synergistic factor; MIP2-alpha; Macrophage inflammatory protein 2-alpha; SB-251353", "protein_names_refseq": "C-X-C motif chemokine 2 precursor; C-X-C motif chemokine 2; GRO2 oncogene; MGSA beta; MIP2-alpha; chemokine (C-X-C motif) ligand 2; gro-beta; growth-regulated protein beta; macrophage inflammatory protein 2-alpha; melanoma growth stimulatory activity beta", "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); COVID-19 (Disease Ontology:DOID:0080600); acute necrotizing pancreatitis (Disease Ontology:DOID:0080998); pleurisy (Disease Ontology:DOID:10247); 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); cystic fibrosis (Disease Ontology:DOID:1485); status epilepticus (Disease Ontology:DOID:1824); intrahepatic cholestasis (Disease Ontology:DOID:1852); severe acute respiratory syndrome (Disease Ontology:DOID:2945); brain edema (Disease Ontology:DOID:4724); esophageal cancer (Disease Ontology:DOID:5041); pneumonia (Disease Ontology:DOID:552); periodontitis (Disease Ontology:DOID:824); lung disease (Disease Ontology:DOID:850); bacterial pneumonia (Disease Ontology:DOID:874); cholangitis (Disease Ontology:DOID:9446)", "pathway": " (hsa:2920); (R-HSA-380108); (R-HSA-418594); (R-HSA-6783783)", "pathway_count": 4, "publication_count": 109, "publication_id_list": "10092818;10229797;10415057;10433356;10600366;10640743;10706668;10725696;10725697;10725737;10781587;11007482;11060282;12120503;12149255;12554737;12554859;12626585;12832402;12884299;12949249;1460289;15067078;15919823;15951850;16107333;16634148;16923326;16982608;1744577;1840701;18434541;18577758;1891716;1940369;1940799;20002784;20145033;2078213;2201751;2217207;2341726;2423119;24743777;2534964;2748346;2834384;2970963;3098319;3260265;33091337;36281171;36577281;38010448;7510216;7512027;7512451;7516408;7543512;7593617;7594602;7602097;7622448;7642634;7679328;7684412;7687627;7851893;7875320;7902377;7937899;8015379;8048929;8063757;8102388;8120391;8163946;8186324;8301137;8383238;8406495;8537680;8639485;8662928;8734788;8742066;8849694;8871669;8897595;8910398;8921438;8946277;9013939;9024663;9164944;9166430;9169459;9207005;9276730;9312047;9354687;9390561;9449724;9463416;9550426;9618518;9794440;9836587;9918218", "class_list": "", "function": "CXCL2 acts as a prognostic biomarker and associated with immune infiltrates in stomach adenocarcinoma., [RefSeq, PubMed]; CXCL2 has antimicrobial activity against E. coli and S. aureus., [RefSeq, PubMed]; Identification and Validation of CXCL2 as a Key Gene for Childhood Obesity., [RefSeq, PubMed]; Produced by activated monocytes and neutrophils and expressed at sites of inflammation. Hematoregulatory chemokine, which, in vitro, suppresses hematopoietic progenitor cell proliferation. GRO-beta(5-73) shows a highly enhanced hematopoietic activity., [UniProtKB, PubMed]; This antimicrobial gene is part of a chemokine superfamily that encodes secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CXC subfamily, is expressed at sites of inflammation and may suppress hematopoietic progenitor cell proliferation. [provided by RefSeq, Sep 2014]., [RefSeq]; Tumor-associated macrophages mediate gastrointestinal stromal tumor cell metastasis through CXCL2/CXCR2., [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": 23, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6FGD6;Q9UPB8", "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:0006935 chemotaxis;GO:0006954 inflammatory response;GO:0006955 immune response;GO:0002237 response to molecule of bacterial origin", "synthesized_glycan_count": 0, "hit_score": 11.0, "record_id": "P19875-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P42830-1", "uniprot_id": "CXCL5_HUMAN", "mass": 11972.0, "length": 114, "protein_name": "C-X-C motif chemokine 5", "gene_name": "CXCL5", "organism": "Human", "refseq_name": "C-X-C motif chemokine 5 precursor", "refseq_ac": "NP_002985", "gene_names_uniprotkb": "CXCL5; ENA78; SCYB5", "gene_names_refseq": "CXCL5; ENA-78; SCYB5", "protein_names_uniprotkb": "C-X-C motif chemokine 5; ENA-78(1-78); Epithelial-derived neutrophil-activating protein 78; Neutrophil-activating peptide ENA-78; Small-inducible cytokine B5", "protein_names_refseq": "C-X-C motif chemokine 5 precursor; C-X-C motif chemokine 5; chemokine (C-X-C motif) ligand 5; epithelial-derived neutrophil-activating protein 78; neutrophil-activating peptide ENA-78; neutrophil-activating protein 78; small inducible cytokine subfamily B (Cys-X-Cys), member 5 (epithelial-derived neutrophil-activating peptide 78)", "tax_id": 9606, "disease": "sinusitis (Disease Ontology:DOID:0050127); idiopathic pulmonary fibrosis (Disease Ontology:DOID:0050156); alcohol-associated liver disease (Disease Ontology:DOID:0070658); common cold (Disease Ontology:DOID:10459); adult respiratory distress syndrome (Disease Ontology:DOID:11394); pulmonary sarcoidosis (Disease Ontology:DOID:13406); prostatitis (Disease Ontology:DOID:14654); colon carcinoma (Disease Ontology:DOID:1520); diffuse scleroderma (Disease Ontology:DOID:1580); idiopathic interstitial pneumonia (Disease Ontology:DOID:2797); asthma (Disease Ontology:DOID:2841); severe acute respiratory syndrome (Disease Ontology:DOID:2945); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); pneumonia (Disease Ontology:DOID:552); colorectal cancer (Disease Ontology:DOID:9256); hyperhomocysteinemia (Disease Ontology:DOID:9279)", "pathway": " (hsa:6374); (R-HSA-380108); (R-HSA-418594)", "pathway_count": 3, "publication_count": 71, "publication_id_list": "10095777;10229797;10640743;10706668;10725696;10725697;10781587;11007482;11060282;11468158;12120503;12149255;12554737;12665801;12884299;14711052;15067078;15951850;16107333;16634148;16923326;1744577;1840701;18434541;18577758;1891716;20002784;2078213;2217207;2423119;24695525;2534964;2748346;2834384;29242379;2970963;30833945;3098319;31154438;3260265;32938616;33592498;34171305;35051231;38642131;39034411;7602097;7622448;7642634;7679328;7828901;7851893;7875320;7929219;7937899;7999089;8015379;8048929;8383238;8406495;8639485;8849694;9024663;9164944;9166430;9169459;9207005;9276730;9390561;9463416;9618518", "class_list": "", "function": "A2AR-mediated CXCL5 upregulation on macrophages promotes NSCLC progression via NETosis. Publication Status: Online-Only, [RefSeq, PubMed]; CXCL5 impedes CD8[+] T cell immunity by upregulating PD-L1 expression in lung cancer via PXN/AKT signaling phosphorylation and neutrophil chemotaxis. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in neutrophil activation. In vitro, ENA-78(8-78) and ENA-78(9-78) show a threefold higher chemotactic activity for neutrophil granulocytes., [UniProtKB, PubMed]; This gene encodes a protein that is a member of the CXC subfamily of chemokines. Chemokines, which recruit and activate leukocytes, are classified by function (inflammatory or homeostatic) or by structure. This protein is proposed to bind the G-protein coupled receptor chemokine (C-X-C motif) receptor 2 to recruit neutrophils, to promote angiogenesis and to remodel connective tissues. This protein is thought to play a role in cancer cell proliferation, migration, and invasion. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 16, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q96QE1", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0008009 chemokine activity;GO:0045236 CXCR chemokine receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0006935 chemotaxis;GO:0006954 inflammatory response;GO:0007165 signal transduction;GO:0007267 cell-cell signaling;GO:0008284 positive regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "P42830-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NHG4-1", "uniprot_id": "DDTL_HUMAN", "mass": 14195.0, "length": 134, "protein_name": "Putative D-dopachrome decarboxylase-like protein", "gene_name": "DDTL", "organism": "Human", "refseq_name": "putative D-dopachrome decarboxylase-like protein", "refseq_ac": "NP_001077862", "gene_names_uniprotkb": "DDTL", "gene_names_refseq": "DDTL; KB-226F1.2", "protein_names_uniprotkb": "Putative D-dopachrome decarboxylase-like protein; 4.1.1.-; D-dopachrome tautomerase-like protein", "protein_names_refseq": "D-dopachrome decarboxylase-like protein; D-dopachrome tautomerase-like protein; putative D-dopachrome decarboxylase-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:100037417)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "10.1101/2023.09.13.557529;19913121;20628086;24715725;26154972;26175060;27846572;27920218;28832583;28834231;28904123;29242379;29314611;29331515;29632711;29786170;30192525;30779550;31530632;31844290;31848261;31998317;32161166;32387766;32488085;33046825;37938771;38665916", "class_list": "", "function": "Authors performed genetic case-control CNV analyses to test for possible associations between schizophrenia and CNVs for the three genes GSTT1, DDTL, and GSTM1 in Japanese patients., [RefSeq, PubMed]; Genetic regulation of gene expression of MIF family members in lung tissue. Publication Status: Online-Only, [RefSeq, PubMed]; May have a carboxy-lyase activity., [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]", "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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "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": "B4DJJ7", "ec_number_list": "", "go_molecular_function": "GO:0016829 lyase activity;GO:0050178 phenylpyruvate tautomerase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "A6NHG4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NIU2-1", "uniprot_id": "CU037_HUMAN", "mass": 8470.0, "length": 74, "protein_name": "Putative uncharacterized protein encoded by LINC01549", "gene_name": "LINC01549", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "LINC01549; C21orf37", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC01549", "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": "A6NIU2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NKP2-1", "uniprot_id": "D42E2_HUMAN", "mass": 46869.0, "length": 422, "protein_name": "Putative short-chain dehydrogenase/reductase family 42E member 2", "gene_name": "SDR42E2", "organism": "Human", "refseq_name": "putative short-chain dehydrogenase/reductase family 42E member 2 isoform 2", "refseq_ac": "NP_001381248", "gene_names_uniprotkb": "SDR42E2", "gene_names_refseq": "SDR42E2", "protein_names_uniprotkb": "Putative short-chain dehydrogenase/reductase family 42E member 2; 1.1.1.-", "protein_names_refseq": "putative 3-beta-HSD family protein ENSP00000330812; putative short-chain dehydrogenase/reductase family 42E member 2 isoform 2; putative short-chain dehydrogenase/reductase family 42E member 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:100288072)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;19027726;29557506;32387766;33141586;34087483;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:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor", "go_cellular_component": "", "go_biological_process": "GO:0006694 steroid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "A6NKP2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NMT0-1", "uniprot_id": "DBX1_HUMAN", "mass": 37283.0, "length": 343, "protein_name": "Homeobox protein DBX1", "gene_name": "DBX1", "organism": "Human", "refseq_name": "homeobox protein DBX1", "refseq_ac": "NP_001025036", "gene_names_uniprotkb": "DBX1", "gene_names_refseq": "DBX1; HLX1", "protein_names_uniprotkb": "Homeobox protein DBX1; Developing brain homeobox protein 1", "protein_names_refseq": "developing brain homeobox protein 1; homeobox protein DBX1", "tax_id": 9606, "disease": "", "pathway": " (hsa:120237)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "21048147;31844290;36284347", "class_list": "", "function": "Could have a role in patterning the central nervous system during embryogenesis. Has a key role in regulating the distinct phenotypic features that distinguish two major classes of ventral interneurons, V0 and V1 neurons. Regulates the transcription factor profile, neurotransmitter phenotype, intraspinal migratory path and axonal trajectory of V0 neurons, features that differentiate them from an adjacent set of V1 neurons (By similarity)., [UniProtKB]; Dbx1-derived neurons are essential for the transgenic expression and generation of respiratory behavior both 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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:0003677 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:0021515 cell differentiation in spinal cord", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "A6NMT0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A8MYV0-1", "uniprot_id": "DCD2C_HUMAN", "mass": 41608.0, "length": 364, "protein_name": "Doublecortin domain-containing protein 2C", "gene_name": "DCDC2C", "organism": "Human", "refseq_name": "doublecortin domain-containing protein 2C isoform 1", "refseq_ac": "NP_001274373", "gene_names_uniprotkb": "DCDC2C", "gene_names_refseq": "DCDC2C", "protein_names_uniprotkb": "Doublecortin domain-containing protein 2C", "protein_names_refseq": "doublecortin domain containing 2C pseudogene; doublecortin domain-containing protein 2C isoform 1; doublecortin domain-containing protein 2C", "tax_id": 9606, "disease": "", "pathway": " (hsa:728597)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "28395323;39894887", "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": 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": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0097229 sperm end piece;GO:0005737 cytoplasm;GO:0005874 microtubule;GO:0005815 microtubule organizing center;GO:0036126 sperm flagellum", "go_biological_process": "GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "A8MYV0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43143-1", "uniprot_id": "DHX15_HUMAN", "mass": 90933.0, "length": 795, "protein_name": "ATP-dependent RNA helicase DHX15", "gene_name": "DHX15", "organism": "Human", "refseq_name": "ATP-dependent RNA helicase DHX15", "refseq_ac": "NP_001349", "gene_names_uniprotkb": "DHX15; DBP1; DDX15", "gene_names_refseq": "DBP1; DDX15; DHX15; PRP43; PRPF43; PrPp43p; hPrp43", "protein_names_uniprotkb": "ATP-dependent RNA helicase DHX15; 3.6.4.13; ATP-dependent RNA helicase #46; DEAH box protein 15; Splicing factor Prp43; hPrp43", "protein_names_refseq": "ATP-dependent RNA helicase #46; ATP-dependent RNA helicase DHX15; DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15; DEAD/H box-15; DEAH (Asp-Glu-Ala-His) box helicase 15; DEAH (Asp-Glu-Ala-His) box polypeptide 15; DEAH box protein 15; RNA helicase 2; putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX15; splicing factor Prp43", "tax_id": 9606, "disease": "fetal alcohol spectrum disorder (Disease Ontology:DOID:0050696); nicotine dependence (Disease Ontology:DOID:0050742); withdrawal disorder (Disease Ontology:DOID:0060001); developmental disorder of mental health (Disease Ontology:DOID:0060037); autosomal dominant intellectual developmental disorder 6 (Disease Ontology:DOID:0070036); developmental and epileptic encephalopathy 27 (Disease Ontology:DOID:0080444); retinitis pigmentosa (Disease Ontology:DOID:10584); Alzheimer's disease (Disease Ontology:DOID:10652); attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); opioid abuse (Disease Ontology:DOID:11206); sciatic neuropathy (Disease Ontology:DOID:11446); Huntington's disease (Disease Ontology:DOID:12858); cognitive disorder (Disease Ontology:DOID:1561); alcohol use disorder (Disease Ontology:DOID:1574); epilepsy (Disease Ontology:DOID:1826); transient cerebral ischemia (Disease Ontology:DOID:224); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); bipolar disorder (Disease Ontology:DOID:3312); temporal lobe epilepsy (Disease Ontology:DOID:3328); placental insufficiency (Disease Ontology:DOID:3891); egg allergy (Disease Ontology:DOID:4377); schizophrenia (Disease Ontology:DOID:5419); vascular dementia (Disease Ontology:DOID:8725); hyperhomocysteinemia (Disease Ontology:DOID:9279); cannabis abuse (Disease Ontology:DOID:9505); cocaine dependence (Disease Ontology:DOID:9975); heroin dependence (Disease Ontology:DOID:9976); hypoglycemia (Disease Ontology:DOID:9993)", "pathway": " (hsa:1665); (R-HSA-72163); (R-HSA-9770562); (R-HSA-9918481); (R-HSA-9943411)", "pathway_count": 5, "publication_count": 259, "publication_id_list": "10199952;10669729;10882114;11014198;11060040;11101529;11233976;11747608;11991638;12176931;12411573;12414731;12458796;12477934;12682017;14519844;14625303;14654843;14713954;14749727;14762106;15037765;15084397;15146077;15565158;15647753;16263726;16314458;16372014;16408927;16809785;17095540;17128255;17332742;17433364;17606899;17717186;17924679;18042460;18288197;18322460;18446792;18593880;19103666;19165350;19217410;19432882;19536130;19608861;20058876;20068231;20112406;20211137;20423332;20695905;20980672;21295486;21536652;2176635;21911577;22002106;22046413;22110043;22365833;22544926;22569126;22813749;22922743;22959432;22961380;23186163;23222130;23236153;23301498;23345524;23481700;23874216;24076191;24149845;24196718;24304693;24366607;24448447;24714562;24715725;24737827;24782566;24914973;24990078;25301780;25301781;25418920;25555158;25576301;2558966;25645385;25810538;25880248;25892735;26092250;26154972;26375851;26385511;26420826;26728094;26768311;26811146;26929215;26969736;26992070;27108190;27377154;27397612;27459055;27600516;27655845;27661449;27683217;27846572;27862975;27920218;28062851;28063628;28076346;28096519;28218747;28228285;28446606;28502770;28510447;28514659;28580923;28649982;28781166;28832583;28834231;28904123;28911096;29186539;29242379;29274231;29301961;29351928;29360106;29361316;29393594;29437277;29493099;29508533;29557506;29632046;29632711;2963332;29786170;29789417;29902443;30139799;30257008;30315122;30315277;30397120;30410026;30429286;30524438;30599162;30705154;30728453;30765414;30779550;30833945;30975767;31092671;31154438;31217245;31222486;31373491;31409651;31530632;31844290;31848261;31998317;32119511;32157095;32161166;32179686;32265295;32329775;32350084;32357974;32387766;32488085;32494006;32502341;32816001;32897882;32938616;32983136;33141586;33177556;33214551;33243851;33298915;33392160;33446560;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34161762;34171305;34211107;34301950;34405274;34509645;34561969;34725712;34822310;34932366;35051231;35083852;35177536;35215846;35251023;35318648;35385551;35580925;36010968;36177832;36215666;36241641;36284347;36459648;36580660;37217939;3757028;37805921;37938771;38113271;38665916;39320912;40596516;8566756;8608946;9016565;9242493;9388478;9512519;9524131;9539711;9659921;9671485;9701291;9731529", "class_list": "", "function": "DHX15 is involved in SUGP1-mediated RNA missplicing by mutant SF3B1 in cancer., [RefSeq, PubMed]; GPATCH4 regulates rRNA and snRNA 2'-O-methylation in both DHX15-dependent and DHX15-independent manners., [RefSeq, PubMed]; RNA helicase involved in mRNA processing and antiviral innate immunity (PubMed:19103666, PubMed:19432882, PubMed:24782566, PubMed:24990078, PubMed:32179686, PubMed:34161762). Pre-mRNA processing factor involved in disassembly of spliceosomes after the release of mature mRNA (PubMed:19103666). In cooperation with TFIP11 seem to be involved in the transition of the U2, U5 and U6 snRNP-containing IL complex to the snRNP-free IS complex leading to efficient debranching and turnover of excised introns (PubMed:19103666). Plays a key role in antiviral innate immunity by promoting both MAVS-dependent signaling and NLRP6 inflammasome (PubMed:24782566, PubMed:24990078, PubMed:34161762). Acts as an RNA virus sensor: recognizes and binds viral double stranded RNA (dsRNA) and activates the MAVS-dependent signaling to produce interferon-beta and interferon lambda-3 (IFNL3) (PubMed:24782566, PubMed:24990078, PubMed:34161762). Involved in intestinal antiviral innate immunity together with NLRP6: recognizes and binds viral dsRNA and promotes activation of the NLRP6 inflammasome in intestinal epithelial cells to restrict infection by enteric viruses (PubMed:34161762). The NLRP6 inflammasome acts by promoting maturation and secretion of IL18 in the extracellular milieu (PubMed:34161762). Also involved in antibacterial innate immunity by promoting Wnt-induced antimicrobial protein expression in Paneth cells (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Relationship between DHX15 expression and survival in colorectal cancer., [RefSeq, PubMed]; Splicing quality control mediated by DHX15 and its G-patch activator SUGP1., [RefSeq, PubMed]; The protein encoded by this gene is a putative ATP-dependent RNA helicase implicated in pre-mRNA splicing. [provided by RefSeq, Jul 2008]., [RefSeq]; Unveiling the DHX15-G-patch interplay in retroviral RNA packaging., [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": 4, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 28, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q9NQT7", "ec_number_list": "5.6.2.4;3.6.1.-;3.6.4.-;3.6.4.13;2.3.2.27;5.2.1.8;3.6.4.6;3.6.1.5;2.7.7.7;2.7.7.49;3.6.4.10;3.1.3.1;3.9.1.1;4.2.99.18;5.6.1.6;5.6.2.3;3.1.13.-;2.7.7.48;2.7.7.6;3.6.4.12;3.4.21.53;5.6.2.5;2.7.7.19;3.1.-.-;3.6.5.-;3.1.3.16;3.1.3.53;7.6.2.1;2.7.11.1;7.2.2.-;3.4.19.12;5.6.2.-;2.3.2.-;3.6.1.15;3.1.4.-;3.6.-.-;2.7.1.78;3.4.24.-;3.1.13.1;5.6.2.6;3.4.-.-;2.7.7.52;3.1.27.-;2.7.4.3", "go_molecular_function": "GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0003725 double-stranded RNA binding;GO:0004386 helicase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0016607 nuclear speck;GO:0005681 spliceosomal complex", "go_biological_process": "GO:0043279 response to alkaloid;GO:0006397 mRNA processing;GO:0051607 defense response to virus;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0008380 RNA splicing", "synthesized_glycan_count": 0, "hit_score": 26.5, "record_id": "O43143-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P00367-1", "uniprot_id": "DHE3_HUMAN", "mass": 61398.0, "length": 558, "protein_name": "Glutamate dehydrogenase 1, mitochondrial", "gene_name": "GLUD1", "organism": "Human", "refseq_name": "glutamate dehydrogenase 1, mitochondrial isoform b", "refseq_ac": "NP_001305829", "gene_names_uniprotkb": "GLUD1; GLUD", "gene_names_refseq": "GDH1; GDH; GLUD1; GLUD; hGDH1", "protein_names_uniprotkb": "Glutamate dehydrogenase 1, mitochondrial; 1.4.1.3; GDH 1", "protein_names_refseq": "epididymis secretory sperm binding protein; epididymis tissue sperm binding protein Li 18mP; glutamate dehydrogenase (NAD(P)+); glutamate dehydrogenase 1, mitochondrial isoform b; glutamate dehydrogenase 1, mitochondrial", "tax_id": 9606, "disease": "familial hyperinsulinemic hypoglycemia 6 (Disease Ontology:DOID:0070217); Alzheimer's disease (Disease Ontology:DOID:10652); hepatic encephalopathy (Disease Ontology:DOID:13413); childhood absence epilepsy (Disease Ontology:DOID:1825); hyperinsulinism (Disease Ontology:DOID:2018); brain ischemia (Disease Ontology:DOID:2316); temporal lobe epilepsy (Disease Ontology:DOID:3328); fascioliasis (Disease Ontology:DOID:885); hypoglycemia (Disease Ontology:DOID:9993)", "pathway": " (hsa:2746); (R-HSA-2151201); (R-HSA-8964539); (R-HSA-9837999)", "pathway_count": 4, "publication_count": 144, "publication_id_list": "10412986;10636977;10643692;10713165;11032875;11214910;11237011;11254391;11297618;11340167;11809803;11903050;11923310;12054821;12198491;12374852;12563009;12653548;12745923;1286669;14623864;15364907;15522782;15684387;15870080;16023112;16079181;16079853;16115876;16267323;16730026;16788062;16890199;16908542;16911507;16959573;17031457;17101804;17297443;1737786;17437997;17579211;17715127;17923681;18005987;18215119;18343819;18680753;19001277;19338303;19356719;19413330;19417006;19448744;19608861;19648921;19841671;19951946;20166139;20657015;22262461;22710082;23024808;23201127;23931759;24275569;24315374;24520911;25865492;26504172;26758079;26853435;26902786;26923599;2722838;27496948;27642048;28377575;28396416;28514659;29192674;29242379;29301859;29493099;29557506;29786170;29932645;30120231;30429286;30444036;31222486;31327635;31422819;31695197;31844290;32350084;32357974;32387766;32488085;32938616;33043033;33091337;33141586;33257573;33592498;3368458;3377777;33912179;33936100;33968037;3399399;34019948;34185709;3426581;34357683;34704252;34943861;35051231;35083852;35251023;35580925;3585334;35870450;36215666;36629048;38665916;39136063;4052435;40914422;429360;6819292;7623837;7629110;7799916;7883047;8108407;8294935;8314555;8333869;8486350;9178750;9286700;9514741;9571255", "class_list": "", "function": "GDH1 exacerbates renal fibrosis by inhibiting the transcriptional activity of peroxisome proliferator-activated receptor gamma., [RefSeq, PubMed]; Mitochondrial glutamate dehydrogenase that catalyzes the conversion of L-glutamate into alpha-ketoglutarate. Plays a key role in glutamine anaplerosis by producing alpha-ketoglutarate, an important intermediate in the tricarboxylic acid cycle (PubMed:11032875, PubMed:11254391, PubMed:16023112, PubMed:16959573). Plays a role in insulin homeostasis (PubMed:11297618, PubMed:9571255). May be involved in learning and memory reactions by increasing the turnover of the excitatory neurotransmitter glutamate (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene encodes glutamate dehydrogenase, which is a mitochondrial matrix enzyme that catalyzes the oxidative deamination of glutamate to alpha-ketoglutarate and ammonia. This enzyme has an important role in regulating amino acid-induced insulin secretion. It is allosterically activated by ADP and inhibited by GTP and ATP. Activating mutations in this gene are a common cause of congenital hyperinsulinism. Alternative splicing of this gene results in multiple transcript variants. The related glutamate dehydrogenase 2 gene on the human X-chromosome originated from this gene via retrotransposition and encodes a soluble form of glutamate dehydrogenase. Related pseudogenes have been identified on chromosomes 10, 18 and X. [provided by RefSeq, Jan 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": 8, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 11, "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": "B3KV55;B4DGN5;Q5TBU3", "ec_number_list": "2.3.3.1;1.4.1.3;1.15.1.1;1.2.1.3;6.4.1.3;7.1.2.2;4.2.1.2;5.6.1.7;1.2.4.1;2.3.1.168;2.3.1.-;4.98.1.1;1.1.1.38;2.3.1.9;7.1.1.2;1.2.1.36;1.7.1.-;1.2.1.28;3.4.21.53;3.6.4.10;1.1.1.37;5.3.3.8;1.3.8.1;1.3.8.5;1.1.1.42;3.1.2.2;2.3.3.10;2.8.3.5;3.5.3.1;1.2.4.2;5.3.3.21;2.7.11.2;2.7.11.-;1.1.1.35;2.7.1.23;5.6.2.3;1.1.1.62;1.1.1.239;1.1.1.178;1.1.1.53;1.1.1.159;4.2.1.3;6.2.1.-;6.2.1.1;6.2.1.17;6.1.1.5;2.3.1.286;2.3.1.41;2.4.2.-", "go_molecular_function": "GO:0005524 ATP binding;GO:0005525 GTP binding;GO:0042803 protein homodimerization activity;GO:0043531 ADP binding;GO:0070403 NAD+ binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0032024 positive regulation of insulin secretion;GO:0021762 substantia nigra development;GO:0006541 glutamine metabolic process;GO:0006537 glutamate biosynthetic process;GO:0006538 L-glutamate catabolic process", "synthesized_glycan_count": 0, "hit_score": 14.7, "record_id": "P00367-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P02778-1", "uniprot_id": "CXL10_HUMAN", "mass": 10881.0, "length": 98, "protein_name": "C-X-C motif chemokine 10", "gene_name": "CXCL10", "organism": "Human", "refseq_name": "C-X-C motif chemokine 10 precursor", "refseq_ac": "NP_001556", "gene_names_uniprotkb": "CXCL10; INP10; SCYB10", "gene_names_refseq": "C7; CXCL10; IFI10; INP10; IP-10; SCYB10; crg-2; gIP-10; mob-1", "protein_names_uniprotkb": "C-X-C motif chemokine 10; 10 kDa interferon gamma-induced protein; Gamma-IP10; IP-10; Small-inducible cytokine B10", "protein_names_refseq": "10 kDa interferon gamma-induced protein; C-X-C motif chemokine 10 precursor; C-X-C motif chemokine 10; gamma IP10; interferon-inducible cytokine IP-10; protein 10 from interferon (gamma)-induced cell line; small inducible cytokine subfamily B (Cys-X-Cys), member 10; small-inducible cytokine B10", "tax_id": 9606, "disease": "metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); COVID-19 (Disease Ontology:DOID:0080600); common cold (Disease Ontology:DOID:10459); adult respiratory distress syndrome (Disease Ontology:DOID:11394); uveitis (Disease Ontology:DOID:13141); pulmonary sarcoidosis (Disease Ontology:DOID:13406); cholestasis (Disease Ontology:DOID:13580); interstitial cystitis (Disease Ontology:DOID:13949); thoracic aortic aneurysm (Disease Ontology:DOID:14004); renovascular hypertension (Disease Ontology:DOID:1591); hepatitis C (Disease Ontology:DOID:1883); hepatitis B (Disease Ontology:DOID:2043); brain ischemia (Disease Ontology:DOID:2316); bronchiolitis obliterans (Disease Ontology:DOID:2799); asthma (Disease Ontology:DOID:2841); cryoglobulinemia (Disease Ontology:DOID:2917); severe acute respiratory syndrome (Disease Ontology:DOID:2945); pulmonary tuberculosis (Disease Ontology:DOID:2957); interstitial lung disease (Disease Ontology:DOID:3082); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); brain infarction (Disease Ontology:DOID:3454); 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); liver cirrhosis (Disease Ontology:DOID:5082); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); proteinuria (Disease Ontology:DOID:576); hepatocellular carcinoma (Disease Ontology:DOID:684); myocarditis (Disease Ontology:DOID:820); extrinsic allergic alveolitis (Disease Ontology:DOID:841); diabetic retinopathy (Disease Ontology:DOID:8947); type 2 diabetes mellitus (Disease Ontology:DOID:9352); steatotic liver disease (Disease Ontology:DOID:9452); encephalitis (Disease Ontology:DOID:9588); pulmonary emphysema (Disease Ontology:DOID:9675); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:3627); (R-HSA-380108); (R-HSA-418594); (R-HSA-6783783)", "pathway_count": 4, "publication_count": 135, "publication_id_list": "10092818;10229797;10233762;10415057;10433356;10640743;10706668;10725696;10725697;10781587;11007482;11060282;11157474;11559369;12120503;12149255;12173928;12554737;12554859;12626585;12663757;12737818;12750173;12832402;12884299;12949249;1460289;15067078;15919823;15951850;16107333;16634148;16923326;16982608;1744577;1840701;18434541;18577758;18645041;1891716;19151743;1940369;1940799;20002784;20145033;2078213;21183794;2217207;22652417;23328677;2423119;24743777;2534964;2748346;2834384;29242379;29557506;29632711;2970963;3098319;31986264;32157095;32350084;32360286;3260265;32706090;32983136;33912179;33936100;34357683;34561969;35051231;38955622;38963029;39185418;39190494;3925348;7510216;7512027;7512451;7516408;7540647;7543512;7593617;7594602;7602097;7622448;7642634;7679328;7684412;7687627;7851893;7875320;7902377;7937899;8015379;8048929;8063757;8102388;8120391;8163946;8186324;8301137;8383238;8406495;8423327;8537680;8639485;8662928;8734788;8742066;8849694;8871669;8897595;8910398;8921438;8946277;9013939;9024663;9064356;9164944;9166430;9169459;9207005;9276730;9312047;9354687;9390561;9449724;9463416;9550426;9618518;9794440;9836587;9918218", "class_list": "", "function": "CXCL10 an important chemokine associated with cytokine storm in COVID-19 infected patients. Review article, [RefSeq, PubMed]; CXCL10 displays antimicrobial activity against E. coli and S. aureus., [RefSeq, PubMed]; CXCL9, CXCL10, and CCL19 synergistically recruit T lymphocytes to skin in lichen planus. Publication Status: Online-Only, [RefSeq, PubMed]; Deciphering the mediating role of CXCL10 in hypothyroidism-induced idiopathic pulmonary fibrosis in European ancestry: a Mendelian randomization study. Publication Status: Online-Only, [RefSeq, PubMed]; Dysregulated tryptophan metabolism and AhR pathway contributed to CXCL10 upregulation in stable non-segmental vitiligo., [RefSeq, PubMed]; Expression of ISG60 is induced by TLR3 signaling in BEAS-2B bronchial epithelial cells: Possible involvement in CXCL10 expression., [RefSeq, PubMed]; Pro-inflammatory cytokine that is involved in a wide variety of processes such as chemotaxis, differentiation, and activation of peripheral immune cells, regulation of cell growth, apoptosis and modulation of angiostatic effects (PubMed:11157474, PubMed:22652417, PubMed:7540647). Plays thereby an important role during viral infections by stimulating the activation and migration of immune cells to the infected sites (By similarity). Mechanistically, binding of CXCL10 to the CXCR3 receptor activates G protein-mediated signaling and results in downstream activation of phospholipase C-dependent pathway, an increase in intracellular calcium production and actin reorganization (PubMed:12750173, PubMed:19151743). In turn, recruitment of activated Th1 lymphocytes occurs at sites of inflammation (PubMed:12663757, PubMed:12750173). Activation of the CXCL10/CXCR3 axis also plays an important role in neurons in response to brain injury for activating microglia, the resident macrophage population of the central nervous system, and directing them to the lesion site. This recruitment is an essential element for neuronal reorganization (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; This antimicrobial gene encodes a chemokine of the CXC subfamily and ligand for the receptor CXCR3. Binding of this protein to CXCR3 results in pleiotropic effects, including stimulation of monocytes, natural killer and T-cell migration, and modulation of adhesion molecule expression. This gene may also be a key regulator of the 'cytokine storm' immune response to SARS-CoV-2 infection. [provided by RefSeq, Sep 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": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "monitoring", "glycan_count": 0, "disease_count": 37, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q96QJ5", "ec_number_list": "", "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0008201 heparin binding;GO:0042056 chemoattractant activity;GO:0008603 cAMP-dependent protein kinase regulator activity;GO:0008009 chemokine activity", "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:0006954 inflammatory response;GO:0007165 signal transduction;GO:0007166 cell surface receptor signaling pathway;GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 13.6, "record_id": "P02778-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P04839-1", "uniprot_id": "CY24B_HUMAN", "mass": 65336.0, "length": 570, "protein_name": "NADPH oxidase 2", "gene_name": "CYBB", "organism": "Human", "refseq_name": "NADPH oxidase 2", "refseq_ac": "NP_000388", "gene_names_uniprotkb": "CYBB; NOX2", "gene_names_refseq": "AMCBX2; CGDX; CGD; CYBB; GP91-1; GP91-PHOX; GP91PHOX; IMD34; NOX2; p91-PHOX", "protein_names_uniprotkb": "NADPH oxidase 2; 1.6.3.-; CGD91-phox; Cytochrome b(558) subunit beta; Cytochrome b-245 heavy chain; Cytochrome b558 subunit beta; Heme-binding membrane glycoprotein gp91phox; Neutrophil cytochrome b 91 kDa polypeptide; Superoxide-generating NADPH oxidase heavy chain subunit; gp91-1; gp91-phox; p22 phagocyte B-cytochrome", "protein_names_refseq": "CGD91-phox; NADPH oxidase 2; cytochrome b(558) subunit beta; cytochrome b-245 beta polypeptide; cytochrome b-245 heavy chain; cytochrome b558 subunit beta; heme-binding membrane glycoprotein gp91phox; neutrophil cytochrome b 91 kDa polypeptide; p22 phagocyte B-cytochrome; superoxide-generating NADPH oxidase heavy chain subunit", "tax_id": 9606, "disease": "renal fibrosis (Disease Ontology:DOID:0050855); X-linked chronic granulomatous disease (Disease Ontology:DOID:0070195); immunodeficiency 34 (Disease Ontology:DOID:0112000); hypertension (Disease Ontology:DOID:10763); chronic granulomatous disease (Disease Ontology:DOID:3265); primary hyperaldosteronism (Disease Ontology:DOID:446); myocardial infarction (Disease Ontology:DOID:5844); pulmonary hypertension (Disease Ontology:DOID:6432); end stage renal disease (Disease Ontology:DOID:783)", "pathway": " (hsa:1536); (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)", "pathway_count": 10, "publication_count": 494, "publication_id_list": 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"class_list": "", "function": "Catalytic 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:15338276, PubMed:36241643, PubMed:36413210, 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 (Probable) (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:19028840, 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 (By similarity). NADPH oxidase complex assembly is impaired through interaction with NRROS (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Cytochrome b (-245) is composed of cytochrome b alpha (CYBA) and beta (CYBB) chain. It has been proposed as a primary component of the microbicidal oxidase system of phagocytes. CYBB deficiency is one of five described biochemical defects associated with chronic granulomatous disease (CGD). In this disorder, there is decreased activity of phagocyte NADPH oxidase; neutrophils are able to phagocytize bacteria but cannot kill them in the phagocytic vacuoles. The cause of the killing defect is an inability to increase the cell's respiration and consequent failure to deliver activated oxygen into the phagocytic vacuole. [provided by RefSeq, Jul 2008]., [RefSeq]; Modulation of NOX2 causes obesity-mediated atrial fibrillation. Publication Status: Online-Only, [RefSeq, PubMed]; Nox2 inhibition reduces trophoblast ferroptosis in preeclampsia via the STAT3/GPX4 pathway., [RefSeq, PubMed]; Structural basis for EROS binding to human phagocyte NADPH oxidase NOX2., [RefSeq, PubMed]; Structure of human phagocyte NADPH oxidase in the activated state., [RefSeq, PubMed]; The Association between NADPH Oxidase 2 (NOX2) and Drug Resistance in 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": 1, "mined_n_glycosites": 1, "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": 3, "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": 7, "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": 20, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 10, "disease_count": 9, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A8K138;Q2PP16", "ec_number_list": "2.7.11.1;3.4.24.81;3.1.4.4;6.2.1.3;6.2.1.-;6.2.1.7;6.2.1.24;6.2.1.15;2.3.1.51;1.14.19.17;5.2.1.-;3.2.1.20;2.3.1.20;2.3.1.76;3.4.21.73;3.6.5.2;1.6.3.-;3.1.3.48;2.7.10.1;1.14.14.18;2.7.1.153;2.7.1.137;2.7.10.2;1.2.1.5;1.2.1.28;1.2.1.7;1.2.1.48;3.4.24.-;7.6.2.1;3.2.2.6;1.1.1.-;2.7.11.13;2.3.2.27;2.3.1.78;1.-.-.-;1.6.3.1;1.11.1.-", "go_molecular_function": "GO:0046872 metal ion binding;GO:0046982 protein heterodimerization activity;GO:0050660 flavin adenine dinucleotide binding;GO:0071949 FAD binding;GO:0020037 heme binding", "go_cellular_component": "GO:0043020 NADPH oxidase complex;GO:0005635 nuclear envelope;GO:0005886 plasma membrane;GO:0030425 dendrite;GO:0035579 specific granule membrane", "go_biological_process": "GO:0006952 defense response;GO:0006954 inflammatory response;GO:0007584 response to nutrient;GO:0045087 innate immune response;GO:0034220 monoatomic ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 51.1, "record_id": "P04839-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P09417-1", "uniprot_id": "DHPR_HUMAN", "mass": 25790.0, "length": 244, "protein_name": "Dihydropteridine reductase", "gene_name": "QDPR", "organism": "Human", "refseq_name": "dihydropteridine reductase isoform 1", "refseq_ac": "NP_000311", "gene_names_uniprotkb": "QDPR; DHPR; SDR33C1", "gene_names_refseq": "DHPR; HDHPR; PKU2; QDPR; SDR33C1", "protein_names_uniprotkb": "Dihydropteridine reductase; 1.5.1.34; HDHPR; Quinoid dihydropteridine reductase; Short chain dehydrogenase/reductase family 33C member 1", "protein_names_refseq": "6,7-dihydropteridine reductase; dihydropteridine reductase isoform 1; short chain dehydrogenase/reductase family 33C member 1; testis secretory sperm-binding protein Li 236P", "tax_id": 9606, "disease": "BH4-deficient hyperphenylalaninemia C (Disease Ontology:DOID:0081130); hypertension (Disease Ontology:DOID:10763); status epilepticus (Disease Ontology:DOID:1824); phenylketonuria (Disease Ontology:DOID:9281)", "pathway": " (hsa:5860); (R-HSA-8964208)", "pathway_count": 2, "publication_count": 48, "publication_id_list": "10408783;11153907;11237011;1283784;15364907;16917893;17356132;19338303;19839645;20068231;2116088;22223895;22861376;22891768;24768817;26992070;28218747;28633336;29355631;29437277;30315122;3031582;3033643;30410026;31154438;31844290;32157095;32488085;33043033;33912179;33968037;34087483;34171305;37382215;37938771;38642552;38665916;7627180;7744010;7883047;8262916;8294935;8326489;8352282;8444860;8889590;9642259;9744478", "class_list": "", "function": "Catalyzes the conversion of quinonoid dihydrobiopterin into tetrahydrobiopterin., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Comprehensive bioinformatics analysis of structural and functional consequences of deleterious missense mutations in the human QDPR gene., [RefSeq, PubMed]; Mutation of dihydropteridine reductase (QDPR) inhibited the regulation of TOR serine-threonine kinases (mTOR), suggesting that QDPR is a positive regulator of autophagy via suppressing mTOR signaling., [RefSeq, PubMed]; QDPR deficiency drives immune suppression in pancreatic cancer., [RefSeq, PubMed]; Show for the first time statistically significant up regulation of iNOS in QDPR overexpressing astrocytes. Increased expression of iNOS associated with astrocyte pathology seen in many neurodegenerative disorders may have implications in autoimmune neurodegenerative disorders., [RefSeq, PubMed]; This gene encodes the enzyme dihydropteridine reductase, which catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin. This enzyme is an essential component of the pterin-dependent aromatic amino acid hydroxylating systems. Mutations in this gene resulting in QDPR deficiency include aberrant splicing, amino acid substitutions, insertions, or premature terminations. Dihydropteridine reductase deficiency presents as atypical phenylketonuria due to insufficient production of biopterin, a cofactor for phenylalanine hydroxylase. [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": 0, "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": "A8K158;B3KW71;Q53F52;Q9H3M5", "ec_number_list": "1.5.1.34", "go_molecular_function": "GO:0009055 electron transfer activity;GO:0070402 NADPH binding;GO:0004155 6,7-dihydropteridine reductase activity;GO:0070404 NADH binding;GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006520 amino acid metabolic process;GO:0006559 L-phenylalanine catabolic process;GO:0006729 tetrahydrobiopterin biosynthetic process;GO:0051066 dihydrobiopterin metabolic process", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "P09417-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0CZ25-1", "uniprot_id": "D10OS_HUMAN", "mass": 17537.0, "length": 163, "protein_name": "Uncharacterized protein DNAH10OS", "gene_name": "DNAH10OS", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "DNAH10OS", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein DNAH10OS", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "19726446", "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": "P0CZ25-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DMV0-1", "uniprot_id": "CT457_HUMAN", "mass": 21232.0, "length": 189, "protein_name": "Cancer/testis antigen family 45 member A7", "gene_name": "CT45A7", "organism": "Human", "refseq_name": "cancer/testis antigen family 45 member A6", "refseq_ac": "NP_001017438", "gene_names_uniprotkb": "CT45A7", "gene_names_refseq": "CT45.6; CT45A6", "protein_names_uniprotkb": "Cancer/testis antigen family 45 member A7; Cancer/testis antigen 45A7", "protein_names_refseq": "cancer/testis antigen family 45 member A6", "tax_id": 9606, "disease": "", "pathway": " (hsa:101060211); (hsa:441521); (hsa:541465)", "pathway_count": 3, "publication_count": 1, "publication_id_list": "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": 0.2, "record_id": "P0DMV0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P58513-1", "uniprot_id": "CU042_HUMAN", "mass": 9586.0, "length": 81, "protein_name": "Putative uncharacterized protein encoded by LINC00158", "gene_name": "LINC00158", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "LINC00158; C21orf42; NCRNA00158", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC00158", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "11707072", "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": "P58513-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P59666-1", "uniprot_id": "DEF3_HUMAN", "mass": 10245.0, "length": 94, "protein_name": "Neutrophil defensin 3", "gene_name": "DEFA3", "organism": "Human", "refseq_name": "neutrophil defensin 3 preproprotein", "refseq_ac": "NP_005208", "gene_names_uniprotkb": "DEFA3; DEF3", "gene_names_refseq": "DEF3; DEFA3; HNP-3; HNP3; HP-3; HP3", "protein_names_uniprotkb": "Neutrophil defensin 3; Defensin, alpha 3; HNP-2; HNP-3; HP-2; HP-3; HP2; HP3", "protein_names_refseq": "defensin 3, neutrophil-specific; defensin, alpha 3, neutrophil-specific; neutrophil defensin 3 preproprotein; neutrophil defensin 3; neutrophil peptide 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:1668); (R-HSA-1461973); (R-HSA-1462054)", "pathway_count": 3, "publication_count": 42, "publication_id_list": "10618521;12021776;12060767;12949495;1302183;1339298;1445872;15210812;1547345;15616305;15772169;15894545;17088326;17142766;17452329;18435932;18973303;2006422;20214904;20385753;23783831;2500436;25300997;25963798;2668334;27207796;27563166;28420383;2917986;2918759;29282039;29950924;2997278;31154438;3174637;34019948;35580925;4056036;7833799;8329717;8477861;9169779", "class_list": "", "function": "DEFA1, DEFA3, and PPBP expression was significantly increased in hyperlipidemia and coronary heart disease patients compared with controls. Publication Status: Online-Only, [RefSeq, PubMed]; DEFA3 encodes an antibacterial peptide that is bacteriocidal against S. aureus, E. coli, and P. aeruginosa., [RefSeq, PubMed]; Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. The protein encoded by this gene, defensin, alpha 3, is found in the microbicidal granules of neutrophils and likely plays a role in phagocyte-mediated host defense. Several alpha defensin genes are clustered on chromosome 8. This gene differs from defensin, alpha 1 by only one amino acid. This gene and the gene encoding defensin, alpha 1 are both subject to copy number variation. [provided by RefSeq, Oct 2014]., [RefSeq]; Effector molecule of the innate immune system that acts via antibiotic-like properties against a broad array of infectious agents including bacteria, fungi, and viruses (PubMed:15616305, PubMed:15772169, PubMed:17142766). Possesses the ability to neutralize bacterial toxins such as B.anthracis lethal factor, Clostridium difficile cytotoxin B as well as leukocidin produced by Staphylococcus aureus (PubMed:15772169, PubMed:18435932, PubMed:25963798). Also blocks herpes simplex virus infection by interacting with envelope glycoprotein B and thus preventing its binding to heparan sulfate, the receptor for attachment (PubMed:17142766)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; High HNP3 expression is associated with IgA Nephropathy., [RefSeq, PubMed]; Lower DEFA1/DEFA3 copy number (CNV < 7) is associated with higher susceptibility to hospital-acquired infections (HAIs) in critically ill patients, indicating that host genetic factors are involved in the development of HAIs Publication Status: Online-Only, [RefSeq, PubMed]; The expression of alpha-defensins 1, 2 and 3 is up-regulated in hypercholesteremia., [RefSeq, PubMed]; These results demonstrate that HNPs1-3 may be potent inhibitors of ADAMTS13 activity, likely by binding to the central A2 domain of VWF and physically blocking ADAMTS13 binding., [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": "P11479;Q14125", "ec_number_list": "", "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0140911 pore-forming activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005796 Golgi lumen;GO:0070062 extracellular exosome;GO:0035578 azurophil granule lumen", "go_biological_process": "GO:0019731 antibacterial humoral response;GO:0045087 innate immune response;GO:0050829 defense response to Gram-negative bacterium;GO:0050830 defense response to Gram-positive bacterium;GO:0051607 defense response to virus", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "P59666-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P81534-1", "uniprot_id": "D103A_HUMAN", "mass": 7697.0, "length": 67, "protein_name": "Beta-defensin 103", "gene_name": "DEFB103A; DEFB103B", "organism": "Human", "refseq_name": "beta-defensin 103 precursor", "refseq_ac": "NP_001075020", "gene_names_uniprotkb": "DEFB103A; DEFB103B; BD3; DEFB103; DEFB3", "gene_names_refseq": "BD-3; DEFB-3; DEFB103A; DEFB103; DEFB3; HBD3; HBP-3; HBP3", "protein_names_uniprotkb": "Beta-defensin 103; BD-3; Beta-defensin 3; DEFB-3; Defensin, beta 103; Defensin-like protein; HBD3; hBD-3", "protein_names_refseq": "beta-defensin 103 precursor; beta-defensin 3; defensin, beta 103; defensin-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:414325); (hsa:55894); (R-HSA-1461957); (R-HSA-1461973)", "pathway_count": 4, "publication_count": 20, "publication_id_list": "10521347;10914484;11085990;11223260;11702237;11741980;11934878;12949495;18006661;20214904;20385753;20404083;20483750;21122132;26224324;28102569;29487594;29758092;35051231;9541493", "class_list": "", "function": "Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 103, an antibiotic peptide which is induced by bacteria and interferon gamma, and which displays antimicrobial activity against S. aureus, S. pyogenes, P. aeruginosa, E. coli, and C. albicans. [provided by RefSeq, Oct 2014]., [RefSeq]; Exhibits antimicrobial activity against Gram-positive bacteria S.aureus and S.pyogenes, Gram-negative bacteria P.aeruginosa and E.coli and the yeast C.albicans. Kills multiresistant S.aureus and vancomycin-resistant E.faecium. No significant hemolytic activity was observed., [UniProtKB, PubMed]; In aged skin the relative paucity of Langerhans cells not only results in diminished immunosurveillance, but could also reduce the epidermal pool of HBD3, potentially contributing to impaired cutaneous immunity to microbes and reduced efficacy of tumor cell lysis., [RefSeq, PubMed]; Inducibility of HBD3 influences the severity of Gram-positive skin infection in humans in vivo., [RefSeq, PubMed]; Results from study in human monocytic cell line THP-1 and murine macrophage-like cell line RAW264.7 demonstrate a novel immune defense activity of BD2 and BD3, which promotes clearance of Pseudomonas aeruginosa by inhibiting macrophage autophagy through down-regulation of EGR1 and c-FOS. Publication Status: Online-Only, [RefSeq, PubMed]; The encoded peptide displays antimicrobial activity against S. aureus and E. faecium., [RefSeq, PubMed]; The role of DEFB103 gene copy number variation (CNV) in ankylosing spondylitis (AS) susceptibility, was investigated., [RefSeq, PubMed]; This study shows that hBD3 amplifies the response to bacterial DNA in both mouse and human immune cells in a TLR9-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": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "Q8NFG6;Q9NPF6", "ec_number_list": "", "go_molecular_function": "GO:0042056 chemoattractant activity;GO:0031731 CCR6 chemokine receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005796 Golgi lumen", "go_biological_process": "GO:0050829 defense response to Gram-negative bacterium;GO:0050830 defense response to Gram-positive bacterium;GO:0060326 cell chemotaxis;GO:0042742 defense response to bacterium;GO:0031640 killing of cells of another organism", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "P81534-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q01523-1", "uniprot_id": "DEF5_HUMAN", "mass": 10071.0, "length": 94, "protein_name": "Defensin alpha 5", "gene_name": "DEFA5", "organism": "Human", "refseq_name": "defensin alpha 5 preproprotein", "refseq_ac": "NP_066290", "gene_names_uniprotkb": "DEFA5; DEF5", "gene_names_refseq": "DEF5; DEFA5; HD-5", "protein_names_uniprotkb": "Defensin alpha 5; Defensin-5; HD5(20-94)", "protein_names_refseq": "HD5(20-94); defensin alpha 5 preproprotein; defensin, alpha 5, Paneth cell-specific; defensin, alpha 5, preproprotein; defensin-5", "tax_id": 9606, "disease": "", "pathway": " (hsa:1670); (R-HSA-1461973); (R-HSA-1462054); (R-HSA-9841251)", "pathway_count": 4, "publication_count": 46, "publication_id_list": "10618521;11139588;12021776;12060767;12660734;12949495;1302183;1339298;1429669;1445872;15210812;1547345;15616305;17088326;18973303;19589339;2006422;20214904;20385753;22359618;22573326;23163963;23665396;2500436;25354318;25782105;25892735;26154972;2668334;27426517;29557506;29858013;2997278;30808760;32302062;36284347;36632813;37277970;37598668;37861034;38330831;7833799;8329717;8455624;9169779;9588893", "class_list": "", "function": "(Microbial infection) Acts as a target for S.flexneri infection by binding to the bacterium, possibly via bacterial surface proteins, and thereby augmenting infectivity via enhanced bacterial adhesion and invasion of epithelial cells and tissues., [UniProtKB, PubMed]; 3' untranslated region variants in DEFA5 gene associated with susceptibility to IgA nephropathy in the Chinese Han population., [RefSeq, PubMed]; Association between alpha-defensin 5 and the expression and function of P-glycoprotein in differentiated intestinal Caco-2 cells., [RefSeq, PubMed]; DEFA5 displays antimicrobial activity against E. coli, E. aerogenes, B. cereus, and S. aureus., [RefSeq, PubMed]; Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several of the alpha defensin genes appear to be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 5, is highly expressed in the secretory granules of Paneth cells of the ileum. [provided by RefSeq, Oct 2014]., [RefSeq]; Host-defense peptide that maintains sterility in the urogenital system (PubMed:12021776, PubMed:12660734, PubMed:15616305, PubMed:19589339, PubMed:22359618, PubMed:22573326, PubMed:25354318, PubMed:25782105, PubMed:30808760). Has antimicrobial activity against a wide range of bacteria, including Gram-negative E.coli, P.aeruginosa and S.typhimurium, and Gram-positive E.aerogenes, S.aureus, B.cereus, E.faecium and L.monocytogenes (PubMed:12021776, PubMed:15616305, PubMed:19589339, PubMed:22359618, PubMed:22573326, PubMed:25354318, PubMed:30808760). Confers resistance to intestinal infection by S.typhimurium (PubMed:12660734). Exhibits antimicrobial activity against enteric commensal bacteria such as B.adolescentis, L.acidophilus, B.breve, L.fermentum, B.longum and S.thermophilus (PubMed:25354318). Binds to bacterial membranes and causes membrane disintegration (PubMed:25782105). Induces the secretion of the chemokine IL-8 by intestinal epithelial cells (PubMed:19589339). Binds to B.antracis lef/lethal factor, a major virulence factor from B.anthracis, and neutralizes its enzymatic activity (PubMed:22573326)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Human Intestinal Defensin 5 Ameliorates the Sensitization of Colonic Cancer Cells to 5-Fluorouracil., [RefSeq, PubMed]; Reduced DEFA5 Expression and STAT3 Activation Underlie the Submucosal Invasion of Early Gastric Cancers., [RefSeq, PubMed]; The Function and Modification of Human Defensin 5. 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": 20, "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": "A0JDY6;Q3KNV2", "ec_number_list": "", "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0140911 pore-forming activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005796 Golgi lumen;GO:0030141 secretory granule;GO:0034774 secretory granule lumen", "go_biological_process": "GO:0019731 antibacterial humoral response;GO:0045087 innate immune response;GO:0050829 defense response to Gram-negative bacterium;GO:0050830 defense response to Gram-positive bacterium;GO:0051289 protein homotetramerization", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q01523-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O14948-1", "uniprot_id": "TFEC_HUMAN", "mass": 38788.0, "length": 347, "protein_name": "Transcription factor EC", "gene_name": "TFEC", "organism": "Human", "refseq_name": "transcription factor EC isoform b", "refseq_ac": "NP_001018068", "gene_names_uniprotkb": "TFEC; BHLHE34; TCFEC; TFECL", "gene_names_refseq": "TCFEC; TFE-C; TFEC-L; TFECL; TFEC; bHLHe34; hTFEC-L", "protein_names_uniprotkb": "Transcription factor EC; Class E basic helix-loop-helix protein 34; TFE-C; Transcription factor EC-like; bHLHe34; hTFEC-L", "protein_names_refseq": "class E basic helix-loop-helix protein 34; transcription factor EC isoform b", "tax_id": 9606, "disease": "lysosomal storage disease (Disease Ontology:DOID:3211)", "pathway": " (hsa:22797); (R-HSA-9856649)", "pathway_count": 2, "publication_count": 65, "publication_id_list": "10567402;10611221;10655586;10673502;11027551;11467950;11840323;11891324;11912130;11930005;14975237;15118077;15226305;15507434;16014379;16034366;16822840;16959974;1698554;1748288;17623675;18644867;19524539;19608861;20460180;21486943;21965087;22647378;23159739;23190890;23207919;23481700;25248477;25595898;25892735;26992070;27128622;28394346;28514659;29295999;29769354;30429286;30804224;31154438;31848261;32636443;32983136;33392160;33744299;34140478;34171305;35051231;35580925;37770430;5338216;7958932;8336698;9199364;9256061;9353119;9440696;9560246;9676189;9760192;9973413", "class_list": "", "function": "This gene encodes a member of the micropthalmia (MiT) family of basic helix-loop-helix leucine zipper transcription factors. MiT transcription factors regulate the expression of target genes by binding to E-box recognition sequences as homo- or heterodimers, and play roles in multiple cellular processes including survival, growth and differentiation. The encoded protein is a transcriptional activator of the nonmuscle myosin II heavy chain-A gene, and may also co-regulate target genes in osteoclasts as a heterodimer with micropthalmia-associated transcription factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]., [RefSeq]; Transcriptional regulator that acts as a repressor or an activator. Acts as a transcriptional repressor on minimal promoter containing element F (that includes an E-box sequence). Binds to element F in an E-box sequence-specific manner. Acts as a transcriptional transactivator on the proximal promoter region of the tartrate-resistant acid phosphatase (TRAP) E-box containing promoter (By similarity). Collaborates with MITF in target gene activation (By similarity). Acts as a transcriptional repressor on minimal promoter containing mu E3 enhancer sequence (By similarity). Binds to mu E3 DNA sequence of the immunoglobulin heavy-chain gene enhancer (By similarity). Binds DNA in a homo- or heterodimeric form., [UniProtKB, PubMed, PubMed]; Two alternatively spliced TFEC isoforms have been found to be sequence-specific transcriptional activators of the nonmuscle myosin II heavy chain-A gene in transfected 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": 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": "B2R8X5;Q5H9U8;Q709A4;Q8N6J9", "ec_number_list": "", "go_molecular_function": "GO:0046983 protein dimerization 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: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:0005654 nucleoplasm;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:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "O14948-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P24310-1", "uniprot_id": "CX7A1_HUMAN", "mass": 9118.0, "length": 79, "protein_name": "Cytochrome c oxidase subunit 7A1, mitochondrial", "gene_name": "COX7A1", "organism": "Human", "refseq_name": "cytochrome c oxidase subunit 7A1, mitochondrial precursor", "refseq_ac": "NP_001855", "gene_names_uniprotkb": "COX7A1; COX7AH", "gene_names_refseq": "COX7A1; COX7AH; COX7AM; COX7A", "protein_names_uniprotkb": "Cytochrome c oxidase subunit 7A1, mitochondrial; Cytochrome c oxidase subunit VIIa-H; Cytochrome c oxidase subunit VIIa-M; Cytochrome c oxidase subunit VIIa-heart; Cytochrome c oxidase subunit VIIa-muscle", "protein_names_refseq": "cytochrome c oxidase subunit 7A1, mitochondrial precursor; cytochrome c oxidase subunit 7A1, mitochondrial; cytochrome c oxidase subunit VIIa polypeptide 1 (muscle); cytochrome c oxidase subunit VIIa-H; cytochrome c oxidase subunit VIIa-M; cytochrome c oxidase subunit VIIa-heart; cytochrome c oxidase subunit VIIa-muscle", "tax_id": 9606, "disease": "vitamin B12 deficiency (Disease Ontology:DOID:0050731); neural tube defect (Disease Ontology:DOID:0080074); malaria (Disease Ontology:DOID:12365); dilated cardiomyopathy (Disease Ontology:DOID:12930); Down syndrome (Disease Ontology:DOID:14250); breast cancer (Disease Ontology:DOID:1612); epilepsy (Disease Ontology:DOID:1826); colon cancer (Disease Ontology:DOID:219); ovarian cancer (Disease Ontology:DOID:2394); coronary artery disease (Disease Ontology:DOID:3393); cerebral infarction (Disease Ontology:DOID:3526); cytochrome-c oxidase deficiency disease (Disease Ontology:DOID:3762); homocystinuria (Disease Ontology:DOID:9263); hyperhomocysteinemia (Disease Ontology:DOID:9279)", "pathway": " (hsa:1346); (R-HSA-5628897); (R-HSA-611105); (R-HSA-9707564); (R-HSA-9844594); (R-HSA-9864848)", "pathway_count": 6, "publication_count": 119, "publication_id_list": "10327278;10329961;10335655;10716435;10745013;10980602;11029283;11034341;11237011;11340051;11486029;11545734;11695836;11959846;11997101;12161445;12203114;12231006;12438239;12453409;12714747;12837546;12869586;12906785;12969439;1309697;1327877;1327965;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;27866983;28082314;28199844;28330871;28698372;29154948;29557506;29786170;31536960;32317297;32375044;3427020;3475708;34969438;35750769;36418320;38830579;4288886;5666113;6094553;7979252;7989588;8119488;9344674;9843204;9878551;9926927", "class_list": "", "function": "COX7A1 enhances the sensitivity of human NSCLC cells to cystine deprivation-induced ferroptosis via regulating mitochondrial metabolism. Publication Status: Online-Only, [RefSeq, PubMed]; COX7A1 is a novel gene that might play a crucial role in the etiology of lung adenocarcinoma and can serve as a biomarker for lung cancer disease progression, [RefSeq, PubMed]; Component of the mitochondrial respiratory complex IV (CIV, also named cytochrome c oxidase complex), the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation (By similarity). The CIV complex is the component of the respiratory chain that catalyzes the reduction of oxygen to water (By similarity). Acts as an assembly factor that specifically drives the homodimerization of CIV complexes, mediating the formation of mitochondrial respiratory supercomplexes (respirasomes) containing two CIV: supercomplxes with two molecules of CIV show improved activity (By similarity). Despite being highly expressed in brown adipose tissue, not required for thermogenesis (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, 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 polypeptide 1 (muscle isoform) of subunit VIIa and the polypeptide 1 is present only in muscle tissues. Other polypeptides of subunit VIIa are present in both muscle and nonmuscle tissues, and are encoded by different genes. [provided by RefSeq, Jul 2008]., [RefSeq]; Overexpression of COX7A1 Promotes the Resistance of Gastric Cancer to Oxaliplatin and Weakens the Efficacy of 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": 14, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0016491 oxidoreductase 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:0098803 respiratory chain complex", "go_biological_process": "GO:0006091 generation of precursor metabolites and energy;GO:0006123 mitochondrial electron transport, cytochrome c to oxygen;GO:0006119 oxidative phosphorylation;GO:0097250 mitochondrial respirasome assembly", "synthesized_glycan_count": 0, "hit_score": 12.0, "record_id": "P24310-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H114-1", "uniprot_id": "CSTL1_HUMAN", "mass": 16989.0, "length": 145, "protein_name": "Cystatin-like 1", "gene_name": "CSTL1", "organism": "Human", "refseq_name": "cystatin-like 1 precursor", "refseq_ac": "NP_612140", "gene_names_uniprotkb": "CSTL1", "gene_names_refseq": "CSTL1; CTES1; RCET11; dJ322G13.4", "protein_names_uniprotkb": "Cystatin-like 1; RCET11", "protein_names_refseq": "cystatin-like 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:128817)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "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 at the telomeric end of the cystatin locus and encodes a type 2 cystatin-like protein. The specific function of this protein has not been determined. [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": 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": "Q17RA8;Q64FF7", "ec_number_list": "", "go_molecular_function": "GO:0008234 cysteine-type peptidase activity;GO:0004869 cysteine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0140448 signaling receptor ligand precursor processing", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q9H114-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60732-1", "uniprot_id": "MAGC1_HUMAN", "mass": 123643.0, "length": 1142, "protein_name": "Melanoma-associated antigen C1", "gene_name": "MAGEC1", "organism": "Human", "refseq_name": "melanoma-associated antigen C1", "refseq_ac": "NP_005453", "gene_names_uniprotkb": "MAGEC1", "gene_names_refseq": "CT7.1; CT7; MAGEC1", "protein_names_uniprotkb": "Melanoma-associated antigen C1; CT7.1; Cancer/testis antigen 7.1; MAGE-C1 antigen", "protein_names_refseq": "MAGE-C1 antigen; cancer/testis antigen 7.1; cancer/testis antigen family 7, member 1; melanoma antigen family C, 1; melanoma antigen family C1; melanoma-associated antigen C1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9947)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "11872084;12115486;19651622;23186163;25892735;26154972;26321295;27248683;27600516;27869121;28631709;29393594;29557506;31428094;31429579;32157095;32350084;32488085;32938616;33141586;33968037;34561969;34725712;34782741;35051231;36010968;36211805;37376412;37872029;38509571;39394480;9485030;9618514", "class_list": "", "function": "In patients with Colon cancer, the expression of MAGE-C1 gene was related to a favorable prognosis. Review article, [RefSeq, PubMed]; MAGE-C1 and MAGE-C2 expressions were positively associated with high tumor grade and reduced recurrence-free survival in breast cancer., [RefSeq, PubMed]; MAGE-C1 is cancer-testis antigen suitable for immune targeting in multiple myeloma. Erratum:[Eur J Haematol. 2005 Mar;74(3):275. Chiriva-Intemati, M [corrected to Chiriva-Internati, M]], [RefSeq, PubMed]; Overexpression of MAGE-C1 is associated with mammary gland and ovary, non small cell lung carcinoma and metastatic melanoma, [RefSeq, PubMed]; Results suggest that melanoma antigen, family C, 1 protein (MAGE-C1/CT7) expression is associated with inferior outcome of patients with multiple myeloma (MM) from a Chinese population., [RefSeq, PubMed]; The Association of Melanoma-Associated Antigen-C Gene With Clinicopathological Characteristics and Prognosis in Breast Cancer: A Systematic Review and Meta-Analysis., [RefSeq, PubMed]; This gene is a member of the melanoma antigen gene (MAGE) family. The proteins of this family are tumor-specific antigens that can be recognized by autologous cytolytic T lymphocytes. This protein contains a large number of unique short repetitive sequences in front of the MAGE-homologous sequence, and therefore is about 800 aa longer than the other MAGE proteins. [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": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 72, "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": "A0PK03;O75451;Q8TCV4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "O60732-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13206-1", "uniprot_id": "DDX10_HUMAN", "mass": 100888.0, "length": 875, "protein_name": "Probable ATP-dependent RNA helicase DDX10", "gene_name": "DDX10", "organism": "Human", "refseq_name": "probable ATP-dependent RNA helicase DDX10", "refseq_ac": "NP_004389", "gene_names_uniprotkb": "DDX10", "gene_names_refseq": "DDX10; Dbp4; HRH-J8", "protein_names_uniprotkb": "Probable ATP-dependent RNA helicase DDX10; 3.6.4.13; DEAD box protein 10", "protein_names_refseq": "DDX10-NUP98 fusion protein type 2; DEAD (Asp-Glu-Ala-Asp) box polypeptide 10; DEAD box protein 10; DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase); probable ATP-dependent RNA helicase DDX10", "tax_id": 9606, "disease": "chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); temporal lobe epilepsy (Disease Ontology:DOID:3328)", "pathway": " (hsa:1662)", "pathway_count": 1, "publication_count": 96, "publication_id_list": "11237011;16959974;17081983;18220336;18669648;18691976;19007248;19413330;19651622;19664995;19690332;19691289;20068231;20941364;21406692;23186163;23481700;24715725;25418920;25576301;26154972;26375851;26811146;26992070;27600516;27846572;27920218;28063628;28218747;28228285;28649982;28832583;28904123;29242379;29393594;29437277;29508533;29557506;29632046;29632711;29769354;30315122;30379171;30410026;30429286;30484775;30524438;30620550;30779550;31154438;31217245;31373491;31530632;31844290;31848261;31937595;31998317;32157095;32265295;32350084;32387766;32502341;32519665;32938616;32983136;33141586;33392160;33537174;33592498;33633747;33657088;33691108;33717175;33912179;33936100;33968037;33973712;33981976;34171305;34211107;34509645;34561969;34797290;35051231;35251023;35254053;35318648;35561310;35580925;36010968;36284347;36779599;37938771;40596516;8660968;9199348", "class_list": "", "function": "DDX10 and BYSL as the potential targets of chondrosarcoma and glioma., [RefSeq, PubMed]; DDX10 promotes human lung carcinoma proliferation by U3 small nucleolar ribonucleoprotein IMP4., [RefSeq, PubMed]; DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, and it may be involved in ribosome assembly. Fusion of this gene and the nucleoporin gene, NUP98, by inversion 11 (p15q22) chromosome translocation is found in the patients with de novo or therapy-related myeloid malignancies. [provided by RefSeq, Jul 2008]., [RefSeq]; DEAD-box RNA helicase Dbp4/DDX10 is an enhancer of alpha-synuclein toxicity and oligomerization. Publication Status: Online-Only, [RefSeq, PubMed]; Putative ATP-dependent RNA helicase that plays various role in innate immunity or inflammation. Plays a role in the enhancement of AIM2-induced inflammasome activation by interacting with AIM2 and stabilizing its protein level. Negatively regulates viral infection by promoting interferon beta production and interferon stimulated genes/ISGs expression., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; RNA helicase., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The rRNA-processing function of the yeast U14 small nucleolar RNA can be rescued by a conserved RNA helicase-like protein., [RefSeq, PubMed]; [DDX10 promotes AIM2-inflammasome activation by maintaining AIM2 protein stability]., [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": 14, "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": 4, "binding_glycan_count": 0, "secondary_ac_list": "B2RCQ3;Q5BJD8", "ec_number_list": "5.6.2.4;3.6.1.-;3.6.4.-;3.6.4.13;3.6.4.6;3.6.1.5;2.7.7.7;2.7.7.49;3.6.4.10;3.1.3.1;3.9.1.1;4.2.99.18;5.6.1.6;5.6.2.3;3.6.4.12;3.4.21.53;5.6.2.5;3.1.-.-;3.6.5.-;7.6.2.1;2.3.2.27;7.2.2.-;5.6.2.-;2.3.2.-;2.7.11.1;3.6.1.15;3.1.4.-;3.6.-.-;3.4.24.-;3.1.13.1;5.6.2.6;3.4.-.-;2.7.4.3", "go_molecular_function": "GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0003724 RNA helicase activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006364 rRNA processing", "synthesized_glycan_count": 0, "hit_score": 10.2, "record_id": "Q13206-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H2H0-1", "uniprot_id": "CXXC4_HUMAN", "mass": 20978.0, "length": 198, "protein_name": "CXXC-type zinc finger protein 4", "gene_name": "CXXC4", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "CXXC4; IDAX", "gene_names_refseq": "", "protein_names_uniprotkb": "CXXC-type zinc finger protein 4; Inhibition of the Dvl and axin complex protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-5368598)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "10944533;11113207;11237011;14750955;15108311;21031079;22643886;23481700;24714562;25576301;26728094;26992070;29276034;31844290;34357683", "class_list": "", "function": "Acts as a negative regulator of the Wnt signaling pathway via its interaction with DVL1 (By similarity). 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, 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:0030165 PDZ domain binding;GO:0008327 methyl-CpG binding;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0016055 Wnt signaling pathway;GO:0030178 negative regulation of Wnt signaling pathway;GO:0007352 zygotic specification of dorsal/ventral axis", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q9H2H0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96M61-1", "uniprot_id": "MAGBI_HUMAN", "mass": 38533.0, "length": 343, "protein_name": "Melanoma-associated antigen B18", "gene_name": "MAGEB18", "organism": "Human", "refseq_name": "melanoma-associated antigen B18", "refseq_ac": "NP_775970", "gene_names_uniprotkb": "MAGEB18", "gene_names_refseq": "MAGEB18", "protein_names_uniprotkb": "Melanoma-associated antigen B18; MAGE-B18 antigen", "protein_names_refseq": "MAGE-B18 antigen; melanoma antigen family B, 18; melanoma antigen family B18; melanoma-associated antigen B18", "tax_id": 9606, "disease": "", "pathway": " (hsa:286514)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "20864041;23481700;29331515;29769354", "class_list": "", "function": "May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex., [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": 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": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q96M61-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O14746-1", "uniprot_id": "TERT_HUMAN", "mass": 126997.0, "length": 1132, "protein_name": "Telomerase reverse transcriptase", "gene_name": "TERT", "organism": "Human", "refseq_name": "telomerase reverse transcriptase isoform 2", "refseq_ac": "NP_001180305", "gene_names_uniprotkb": "TERT; EST2; TCS1; TRT", "gene_names_refseq": "CMM9; DKCA2; DKCB4; EST2; PFBMFT1; TCS1; TERT; TP2; TRT; hEST2; hTRT", "protein_names_uniprotkb": "Telomerase reverse transcriptase; 2.7.7.49; HEST2; TP2; Telomerase catalytic subunit; Telomerase-associated protein 2", "protein_names_refseq": "telomerase catalytic subunit; telomerase reverse transcriptase isoform 2; telomerase-associated protein 2", "tax_id": 9606, "disease": "idiopathic pulmonary fibrosis (Disease Ontology:DOID:0050156); small cell carcinoma (Disease Ontology:DOID:0050685); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); myelodysplastic syndrome (Disease Ontology:DOID:0050908); ductal carcinoma in situ (Disease Ontology:DOID:0060074); autosomal dominant dyskeratosis congenita 2 (Disease Ontology:DOID:0070016); prostate cancer (Disease Ontology:DOID:10283); silicosis (Disease Ontology:DOID:10325); stomach cancer (Disease Ontology:DOID:10534); urinary bladder cancer (Disease Ontology:DOID:11054); beta thalassemia (Disease Ontology:DOID:12241); aplastic anemia (Disease Ontology:DOID:12449); brain cancer (Disease Ontology:DOID:1319); lung cancer (Disease Ontology:DOID:1324); cancer (Disease Ontology:DOID:162); hepatitis C (Disease Ontology:DOID:1883); viral hepatitis (Disease Ontology:DOID:1884); melanoma (Disease Ontology:DOID:1909); leiomyosarcoma (Disease Ontology:DOID:1967); nephroblastoma (Disease Ontology:DOID:2154); transient cerebral ischemia (Disease Ontology:DOID:224); transitional cell carcinoma (Disease Ontology:DOID:2671); teratoma (Disease Ontology:DOID:3307); 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); renal cell carcinoma (Disease Ontology:DOID:4450); gallbladder carcinoma (Disease Ontology:DOID:4948); hepatocellular clear cell carcinoma (Disease Ontology:DOID:5016); pulmonary hypertension (Disease Ontology:DOID:6432); hepatocellular carcinoma (Disease Ontology:DOID:684); familial melanoma (Disease Ontology:DOID:6846); chronic kidney disease (Disease Ontology:DOID:784); chronic myeloid leukemia (Disease Ontology:DOID:8552); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991); acute myeloid leukemia (Disease Ontology:DOID:9119); gastrointestinal stromal tumor (Disease Ontology:DOID:9253); nasopharynx carcinoma (Disease Ontology:DOID:9261); plasma cell leukemia (Disease Ontology:DOID:9513); multiple myeloma (Disease Ontology:DOID:9538); acute lymphoblastic leukemia (Disease Ontology:DOID:9952); pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 (MONDO:MONDO:0013878); melanoma, cutaneous malignant, susceptibility to, 9 (MONDO:MONDO:0014056)", "pathway": " (hsa:7015); (R-HSA-171319); (R-HSA-174430); (R-HSA-201722); (R-HSA-9825895)", "pathway_count": 5, "publication_count": 195, "publication_id_list": "10080941;10224060;10333526;10485845;10759561;10769018;10775268;10831834;11029039;11050151;11080158;11136974;11237011;11274138;11532957;11713476;11934263;11955446;11973335;11988739;12163411;12699629;12808100;12869302;14654914;14695187;14963003;15044100;15060161;15060173;15082768;15121853;15138842;15189140;15294866;15371412;15723046;15768032;15805468;15814878;15829968;15857955;15885610;16005293;16169192;16247010;16314528;16323248;16332973;16339074;16510874;16522649;16627250;16630820;16756492;16890917;16990594;17026956;17052462;17172855;17264120;17296728;17392301;17395830;17425782;17428831;17458864;17460043;17548608;17785587;18042801;18082603;18160704;18347063;18358808;18404694;18498752;18523010;18829466;19147845;19148484;19179534;19188162;19383767;19460168;19487454;19493659;19567472;19571879;19734544;19760749;19777057;19854130;20211239;20351177;20404094;20524933;20639858;21436073;21483807;21602826;21654818;21726809;21846770;22186018;22190459;22226966;22366458;22512499;22579284;22617422;22871736;22902867;22982193;23103865;23255554;23348503;23362280;23486104;23612978;23657261;24154794;24196962;24413564;24983628;25108601;25128433;25130084;25271372;25620558;25714118;25982205;25999477;26034007;26398429;26846725;26992070;27891225;27903649;28123886;28331964;28334750;28514659;29178645;29405561;29490055;29695869;29723111;29774655;29790264;30026550;30379171;30395541;30468736;31217245;31355908;31428094;31575892;31630206;31723267;31844290;32157095;32214089;32357974;32387766;33298915;33392160;33968037;34171305;34270940;34561969;35051231;35613827;35874702;37490916;37586765;38973620;39180127;39217470;39408734;6693436;8676067;8756721;8757136;8955148;9118222;9252327;9288757;9389643;9443919;9488439;9490669;9751710;9819412;9843967", "class_list": "", "function": "Association and causal impact of TERT genetic variants on peripheral blood leukocyte telomere length and cerebral small vessel disease risk in a Chinese Han population: a mendelian randomization analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Crosstalk between BER and NHEJ in XRCC4-Deficient Cells Depending on hTERT Overexpression. Publication Status: Online-Only, [RefSeq, PubMed]; Distinct transcriptional and prognostic impacts of TERT promoter mutations C228T and C250T in papillary thyroid carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Modulation of dynamic DNA G-quadruplex structures in the hTERT promoter region by ligands., [RefSeq, PubMed]; Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes. Active in progenitor and cancer cells. Inactive, or very low activity, in normal somatic cells. Catalytic component of the teleromerase holoenzyme complex whose main activity is the elongation of telomeres by acting as a reverse transcriptase that adds simple sequence repeats to chromosome ends by copying a template sequence within the RNA component of the enzyme. Catalyzes the RNA-dependent extension of 3'-chromosomal termini with the 6-nucleotide telomeric repeat unit, 5'-TTAGGG-3'. The catalytic cycle involves primer binding, primer extension and release of product once the template boundary has been reached or nascent product translocation followed by further extension. More active on substrates containing 2 or 3 telomeric repeats. Telomerase activity is regulated by a number of factors including telomerase complex-associated proteins, chaperones and polypeptide modifiers. Modulates Wnt signaling. Plays important roles in aging and antiapoptosis., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, encoded by this gene, and an RNA component which serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Alternatively spliced variants encoding different isoforms of telomerase reverse transcriptase have been identified; the full-length sequence of some variants has not been determined. Alternative splicing at this locus is thought to be one mechanism of regulation of telomerase 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": 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": 17, "reported_glycation": 0, "reported_snv": 63, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 44, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "O14783;Q2XS35;Q8N6C3;Q8NG38;Q8NG46", "ec_number_list": "2.7.7.49;3.1.21.-;3.1.3.16;2.7.7.7;5.4.99.-;5.6.2.4;2.7.7.31;4.2.99.18;4.2.99.-;3.1.26.4;3.4.23.50;2.7.11.22;3.1.11.-;3.6.4.-;2.7.7.102;5.6.2.3;5.6.2.-;3.6.4.12", "go_molecular_function": "GO:0003964 RNA-directed DNA polymerase activity;GO:0003968 RNA-directed RNA polymerase activity;GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006278 RNA-templated DNA biosynthetic process;GO:0071897 DNA biosynthetic process;GO:2000648 positive regulation of stem cell proliferation;GO:0007507 heart development;GO:0045766 positive regulation of angiogenesis", "synthesized_glycan_count": 0, "hit_score": 19.8, "record_id": "O14746-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P23470-1", "uniprot_id": "PTPRG_HUMAN", "mass": 162003.0, "length": 1445, "protein_name": "Receptor-type tyrosine-protein phosphatase gamma", "gene_name": "PTPRG", "organism": "Human", "refseq_name": "receptor-type tyrosine-protein phosphatase gamma isoform 1 precursor", "refseq_ac": "NP_002832", "gene_names_uniprotkb": "PTPRG; PTPG", "gene_names_refseq": "HPTPG; PTPG; PTPRG; R-PTP-GAMMA; RPTPG", "protein_names_uniprotkb": "Receptor-type tyrosine-protein phosphatase gamma; 3.1.3.48; Protein-tyrosine phosphatase gamma; R-PTP-gamma", "protein_names_refseq": "H_RG317H01.1; protein tyrosine phosphatase gamma; protein tyrosine phosphatase, receptor type, gamma polypeptide; receptor type protein tyrosine phosphatase gamma; receptor tyrosine phosphatase gamma; receptor-type protein phosphatase gamma; receptor-type tyrosine-protein phosphatase gamma isoform 1 precursor; receptor-type tyrosine-protein phosphatase gamma", "tax_id": 9606, "disease": "", "pathway": " (hsa:5793)", "pathway_count": 1, "publication_count": 53, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;16335952;18578522;19167335;19413330;20133774;21406692;2169617;2170109;22299025;23090970;23584533;24190977;25576301;25645385;26992070;28834231;29391424;29557506;30429286;30459171;30573663;30779550;31154438;31222486;31844290;31848261;32157095;32350084;32357974;32387766;32488085;32938616;33298915;33592498;33912179;33968037;33981976;34171305;34185709;34357683;34509645;35051231;35580925;35821297;36010968;36077295;36241641;36988334;37074911;8382771;8833149", "class_list": "", "function": "Gene Expression Landscape of Chronic Myeloid Leukemia K562 Cells Overexpressing the Tumor Suppressor Gene PTPRG. Publication Status: Online-Only, [RefSeq, PubMed]; Loss of RPTPgamma primes breast tissue for acid extrusion, promotes malignant transformation and results in early tumour recurrence and shortened survival., [RefSeq, PubMed]; Possesses tyrosine phosphatase activity., [UniProtKB, PubMed]; The EGFR phosphatase RPTPgamma is a redox-regulated suppressor of promigratory 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, a single transmembrane region, and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this PTP contains a carbonic anhydrase-like (CAH) domain, which is also found in the extracellular region of PTPRBETA/ZETA. This gene is located in a chromosomal region that is frequently deleted in renal cell carcinoma and lung carcinoma, thus is thought to be a candidate tumor suppressor gene. [provided by RefSeq, Jul 2008]., [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": 7, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 9, "reported_o_glycosites_with_glycan": 14, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 10, "total_reported_o_glycosites": 14, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 10, "total_o_glycosites": 14, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 69, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 25, "disease_count": 0, "glyco_site_count": 26, "binding_glycan_count": 0, "secondary_ac_list": "B2RU12;B7ZLX5;Q15623;Q59EE0;Q68DU5", "ec_number_list": "3.1.3.16;3.1.3.48;3.1.3.21;3.1.3.18;3.1.3.-;3.1.3.5;3.1.3.2;2.7.10.1;3.1.3.67;3.1.3.27", "go_molecular_function": "GO:0042802 identical protein binding;GO:0005001 transmembrane receptor protein tyrosine phosphatase activity;GO:0004725 protein tyrosine phosphatase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0010633 negative regulation of epithelial cell migration;GO:0007165 signal transduction;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0031175 neuron projection development;GO:0010977 negative regulation of neuron projection development", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "P23470-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q12791-1", "uniprot_id": "KCMA1_HUMAN", "mass": 137560.0, "length": 1236, "protein_name": "Calcium-activated potassium channel subunit alpha-1", "gene_name": "KCNMA1", "organism": "Human", "refseq_name": "Calcium-activated potassium channel subunit alpha-1 isoform a", "refseq_ac": "NP_001014797", "gene_names_uniprotkb": "KCNMA1; KCNMA; SLO", "gene_names_refseq": "BKTM; CADEDS; IEG16; KCNMA1; KCa1.1; LIWAS; MaxiK; PNKD3; SAKCA; SLO-ALPHA; SLO1; SLO; bA205K10.1; hSlo; mSLO1", "protein_names_uniprotkb": "Calcium-activated potassium channel subunit alpha-1; BK channel; BKCA alpha; Calcium-activated potassium channel, subfamily M subunit alpha-1; K(VCA)alpha; KCa1.1; Maxi K channel; MaxiK; Slo homolog; Slo-alpha; Slo1; Slowpoke homolog; hSlo", "protein_names_refseq": "BK channel alpha subunit; BKCA alpha subunit; Calcium-activated potassium channel subunit alpha-1 isoform a; big potassium channel alpha subunit; calcium-activated potassium channel, subfamily M subunit alpha-1; k(VCA)alpha; maxi-K channel HSLO; potassium channel, calcium activated large conductance subfamily M alpha, member 1; potassium large conductance calcium-activated channel, subfamily M, alpha member 1; slo homolog; slowpoke homolog; stretch-activated Kca channel", "tax_id": 9606, "disease": "withdrawal disorder (Disease Ontology:DOID:0060001); paroxysmal nonkinesigenic dyskinesia 3 (Disease Ontology:DOID:0070442); cerebellar atrophy, developmental delay, and seizures (Disease Ontology:DOID:0070740); heart conduction disease (Disease Ontology:DOID:10273); Alzheimer's disease (Disease Ontology:DOID:10652); Duchenne muscular dystrophy (Disease Ontology:DOID:11723); alcohol use disorder (Disease Ontology:DOID:1574); generalized epilepsy (Disease Ontology:DOID:1827); substance-related disorder (Disease Ontology:DOID:303); epilepsy, idiopathic generalized, susceptibility to, 16 (MONDO:MONDO:0032827); Liang-Wang syndrome (MONDO:MONDO:0032886)", "pathway": " (hsa:3778); (R-HSA-1296052); (R-HSA-418457); (R-HSA-9662360); (R-HSA-9667769)", "pathway_count": 5, "publication_count": 64, "publication_id_list": "10025409;10097176;10692449;11163272;11237011;11604135;11752216;11880485;11880513;12434576;12566537;14523450;15937479;16990611;19074509;19592459;20178789;20430843;20508092;20613726;20693285;20859064;22399288;22547800;23407708;24715725;25576301;26195193;27567911;29330545;29545233;29557506;29741879;30573663;31152168;31844290;31848261;32350084;32488085;32938616;32958651;33592498;33968037;34087483;34405274;35051231;35154160;36010968;37074911;37728576;37958656;38042986;38253038;38637987;39217512;7573516;7877450;7987297;7993625;8557689;8821792;8962157;9391153;9829973", "class_list": "", "function": "Disease-associated KCNMA1 variants decrease circadian clock robustness in channelopathy mouse models., [RefSeq, PubMed]; Down-Regulation of CYP3A4 by the KCa1.1 Inhibition Is Responsible for Overcoming Resistance to Doxorubicin in Cancer Spheroid Models. Publication Status: Online-Only, [RefSeq, PubMed]; Evaluation of four KCNMA1 channelopathy variants on BK channel current under CaV1.2 activation., [RefSeq, PubMed]; Potassium channel activated by both membrane depolarization or increase in cytosolic Ca(2+) that mediates export of K(+)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Structural mapping of patient-associated KCNMA1 gene variants. Erratum:[Biophys J. 2025 Jul 15;124(14):2380. doi: 10.1016/j.bpj.2025.06.012. PMID: 40544847], [RefSeq, PubMed]; This gene encodes the alpha subunit of calcium-activated BK channel. The encoded protein is involved in several physiological processes including smooth muscle contraction, neurotransmitter release and neuronal excitability. Mutations in this gene are associated with a spectrum of neurological disorders including Paroxysmal Nonkinesigenic Dyskinesia 3, Idiopathic Generalized Epilepsy 16 and Liang-Wang syndrome. [provided by RefSeq, Aug 2022]., [RefSeq]; Transmembrane determinants of voltage-gating differences between BK (Slo1) and Slo3 channels., [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": 14, "reported_mutagensis": 17, "reported_glycation": 0, "reported_snv": 40, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 8, "disease_count": 11, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "F8WA96;Q12886;Q12917;Q12921;Q12960;Q13150;Q5JQ23;Q5SQR9;Q96LG8;Q9UBB0;Q9UCX0;Q9UQK6", "ec_number_list": "1.8.-.-", "go_molecular_function": "GO:0003779 actin binding;GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0015269 calcium-activated potassium channel activity;GO:0005249 voltage-gated potassium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0045211 postsynaptic membrane;GO:0016324 apical plasma membrane;GO:0005901 caveola", "go_biological_process": "GO:0034465 response to carbon monoxide;GO:0006970 response to osmotic stress;GO:0042391 regulation of membrane potential;GO:0043065 positive regulation of apoptotic process;GO:0051592 response to calcium ion", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q12791-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WV16-1", "uniprot_id": "DCAF4_HUMAN", "mass": 55694.0, "length": 495, "protein_name": "DDB1- and CUL4-associated factor 4", "gene_name": "DCAF4", "organism": "Human", "refseq_name": "DDB1- and CUL4-associated factor 4 isoform 4", "refseq_ac": "NP_001156980", "gene_names_uniprotkb": "DCAF4; WDR21A; WDR21", "gene_names_refseq": "DCAF4; WDR21A; WDR21", "protein_names_uniprotkb": "DDB1- and CUL4-associated factor 4; WD repeat-containing protein 21A", "protein_names_refseq": "DDB1- and CUL4-associated factor 4 isoform 4; WD repeat domain 21A; WD repeat-containing protein 21A", "tax_id": 9606, "disease": "", "pathway": " (hsa:26094); (R-HSA-8951664)", "pathway_count": 2, "publication_count": 166, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11069780;11237011;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;16547496;16647857;16707496;16790436;16943200;16949367;16964240;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18775313;18776931;18805092;18826954;18851830;18926707;19250909;19321346;19617556;19748355;21447816;21463634;21778237;21863050;21940857;22306028;22366774;22466964;22537386;22959436;23201271;23333871;23401859;23453757;23481700;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24715725;24793695;24793696;25314029;25349211;25355947;25418920;25531226;25624462;25645385;25880248;25892735;26154972;26344709;26375851;26460955;26632597;26906416;26992070;27030794;27222660;27565346;27600516;27846572;28063628;28115426;28218747;28228285;28383684;28832583;28834231;28904123;29153394;29242379;29557506;29769354;29786170;30315122;30379171;30610225;30779550;31154438;31530632;31844290;31848261;32005965;32157095;32161166;32284348;32357974;32387766;32488085;32897882;32938616;33141586;33298915;33444648;33592498;33691108;33912179;33968037;34087483;34171305;34405274;34509645;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;9790970;9887101;9891082", "class_list": "", "function": "Genome-wide association (GWA) meta-analysis and de novo genotyping of 20 022 individuals revealed a novel association (p=6.4x10(-10)) between LTL and rs2535913, which lies within DCAF4, [RefSeq, PubMed]; May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex., [UniProtKB, PubMed, PubMed]; Our results suggest that rs12587742 is associated with an increased lung cancer risk, possibly by up-regulating mRNA expression and decreasing methylation status of DCAF4., [RefSeq, PubMed]; The minor allele of WDR21A may induce a good response to inhaled corticosteroids possibly through competition with the Gbeta(1) proteins for binding to GRs, [RefSeq, PubMed]; This gene encodes a WD repeat-containing protein that interacts with the Cul4-Ddb1 E3 ligase macromolecular complex. Multiple alternatively spliced transcript variants have been found for this gene. [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": 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": "B4DUT6;G3V522;Q86U31;Q8IV10;Q96K22;Q9Y4P5", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0080008 Cul4-RING E3 ubiquitin ligase complex", "go_biological_process": "GO:0008283 cell population proliferation;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 16.9, "record_id": "Q8WV16-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86SQ9-1", "uniprot_id": "DHDDS_HUMAN", "mass": 38657.0, "length": 333, "protein_name": "Dehydrodolichyl diphosphate synthase complex subunit DHDDS", "gene_name": "DHDDS", "organism": "Human", "refseq_name": "dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform 3", "refseq_ac": "NP_001230493", "gene_names_uniprotkb": "DHDDS; HDS", "gene_names_refseq": "CIT; CPT; DEDSM; DHDDS; DS; HDS; RP59; hCIT", "protein_names_uniprotkb": "Dehydrodolichyl diphosphate synthase complex subunit DHDDS; 2.5.1.87; CIT; Cis-IPTase; Cis-isoprenyltransferase; Cis-prenyltransferase subunit hCIT; Epididymis tissue protein Li 189m", "protein_names_refseq": "cis-IPTase; cis-isoprenyltransferase; cis-prenyl transferase; cis-prenyltransferase subunit hCIT; dedol-PP synthase; dehydrodolichyl diphosphate syntase complex subunit DHDDS; dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform 3; dehydrodolichyl diphosphate synthase complex subunit DHDDS; epididymis tissue protein Li 189m", "tax_id": 9606, "disease": "developmental delay and seizures with or without movement abnormalities (Disease Ontology:DOID:0080473); retinitis pigmentosa 59 (Disease Ontology:DOID:0110352); cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:79947); (R-HSA-446199); (R-HSA-4755609)", "pathway_count": 3, "publication_count": 83, "publication_id_list": "11237011;12213788;12591616;14652022;15850770;17273964;20637498;20700148;20736409;21295282;21295283;21572394;22240719;24366607;24715725;25066056;25418920;25576301;25880248;26154972;26811146;26992070;27343064;27600516;27846572;27920218;28218747;28228285;28446606;28832583;28834231;28842490;28855257;28904123;29100083;29242379;29331515;29393594;29437277;29632046;30315122;30410026;30429286;30779550;31092671;31154438;31530632;31844290;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32817466;32897882;32938616;32983136;33077723;33298915;33392160;33537174;33592498;33691108;33798445;33912179;33968037;34171305;34185709;34275143;34357683;34561969;35051231;35580925;35584224;36010968;37938771;38821050;6243292;7374371;8626466", "class_list": "", "function": "Identification and amino acid sequence expressed in yeast, [RefSeq, PubMed]; Identification and characterization; overexpression of CIT in CHO cells results in a modest increase in cis-isoprenyltransferase activity associated with microsomal fractions, [RefSeq, PubMed]; Molecular cloning; results suggest a regulatory relationship between CPT activity and dolichol biosynthesis, and may implicate CPT in the levels of dolichol-oligosaccharide intermediate biosynthesis, [RefSeq, PubMed]; Phenotype of heterozygous variants of dehydrodolichol diphosphate synthase., [RefSeq, PubMed]; Structural basis of heterotetrameric assembly and disease mutations in the human cis-prenyltransferase complex. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene catalyzes cis-prenyl chain elongation to produce the polyprenyl backbone of dolichol, a glycosyl carrier lipid required for the biosynthesis of several classes of glycoproteins. Mutations in this gene are associated with retinitis pigmentosa type 59. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]., [RefSeq]; With NUS1, forms the dehydrodolichyl diphosphate synthase (DDS) complex, an essential component of the dolichol monophosphate (Dol-P) biosynthetic machinery (PubMed:25066056, PubMed:28842490, PubMed:32817466, PubMed:33077723). Both subunits contribute to enzymatic activity, i.e. condensation of multiple copies of isopentenyl pyrophosphate (IPP) to farnesyl pyrophosphate (FPP) to produce dehydrodolichyl diphosphate (Dedol-PP), a precursor of dolichol phosphate which is utilized as a sugar carrier in protein glycosylation in the endoplasmic reticulum (ER) (PubMed:25066056, PubMed:28842490, PubMed:32817466, PubMed:33077723). Synthesizes long-chain polyprenols, mostly of C95 and C100 chain length (PubMed:32817466). Regulates the glycosylation and stability of nascent NPC2, thereby promoting trafficking of LDL-derived cholesterol (PubMed:21572394)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 11, "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": "B7Z4B9;B7ZB20;D3DPK7;D3DPK8;D3DPK9;E9KL43;Q5T0A4;Q8NE90;Q9BTG5;Q9BTK3;Q9H905", "ec_number_list": "2.5.1.87;2.5.1.-", "go_molecular_function": "GO:0046872 metal ion binding;GO:0045547 ditrans,polycis-polyprenyl diphosphate synthase [(2E,6E)-farnesyl diphosphate specific] activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:1904423 dehydrodolichyl diphosphate synthase complex", "go_biological_process": "GO:0043048 dolichyl monophosphate biosynthetic process;GO:0006489 dolichyl diphosphate biosynthetic process;GO:0016094 polyprenol biosynthetic process;GO:0006629 lipid metabolic process", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "Q86SQ9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IWZ8-1", "uniprot_id": "SUGP1_HUMAN", "mass": 72471.0, "length": 645, "protein_name": "SURP and G-patch domain-containing protein 1", "gene_name": "SUGP1", "organism": "Human", "refseq_name": "SURP and G-patch domain-containing protein 1", "refseq_ac": "NP_757386", "gene_names_uniprotkb": "SUGP1; SF4", "gene_names_refseq": "F23858; RBP; SF4; SUGP1", "protein_names_uniprotkb": "SURP and G-patch domain-containing protein 1; RNA-binding protein RBP; Splicing factor 4", "protein_names_refseq": "RNA-binding protein RBP; SURP and G-patch domain-containing protein 1; splicing factor 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:57794); (R-HSA-72163); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 4, "publication_count": 194, "publication_id_list": "10669729;10882114;11014198;11060040;11101529;11233976;11237011;11747608;11991638;12176931;12411573;12414731;12477934;12594045;14519844;14625303;14713954;14749727;14762106;15037765;15084397;15565158;16314458;16809785;17081983;17095540;17128255;17332742;17606899;18288197;18322460;18593880;18669648;18691976;19103666;19165350;19217410;19413330;19536130;19651622;19690332;20068231;20423332;20695905;20980672;21295486;21536652;2176635;21911577;22110043;22365833;22813749;22959432;22961380;23186163;23222130;23236153;23301498;23345524;23481700;23874216;24076191;24149845;24196718;24304693;24448447;24714562;24715725;24737827;24914973;25301780;25301781;25555158;25576301;2558966;25892735;26092250;26375851;26385511;26420826;26969736;26992070;27108190;27377154;27459055;27683217;28062851;28076346;28096519;28502770;28781166;28904123;28911096;29186539;29237092;29274231;29301961;29351928;29360106;29361316;29437277;29493099;29557506;2963332;29902443;30139799;30257008;30315277;30379171;30429286;30599162;30620550;30705154;30728453;30765414;30975767;31154438;31217245;31373491;31409651;31492838;31530632;31844290;32119511;32157095;32179686;32329775;32357974;32387766;32494006;32502341;32574038;32816001;32897882;32938616;32938750;32983136;33057152;33141586;33177556;33243851;33392160;33446560;33592498;33691108;33717175;33912179;33968037;33981976;34019948;34087483;34301950;34509645;34822310;34846842;34932366;35051231;35132862;35138101;35177536;35215846;35254053;35289036;35318648;35385551;35513511;35561310;35580925;35705054;36241641;36284347;36459648;37340703;3757028;37805921;37938771;38665916;38838015;39302247;39531497;39534244;40307207;40596516;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9659921;9671485;9701291;9731529", "class_list": "", "function": "DHX15 is involved in SUGP1-mediated RNA missplicing by mutant SF3B1 in cancer., [RefSeq, PubMed]; Genetic alterations of SUGP1 mimic mutant-SF3B1 splice pattern in lung adenocarcinoma and other cancers., [RefSeq, PubMed]; Plays a role in pre-mRNA splicing., [UniProtKB, UniProtKB, UniProtKB]; SF4 is a member of the SURP family of splicing factors.[supplied by OMIM, Sep 2003]., [RefSeq]; Splicing quality control mediated by DHX15 and its G-patch activator SUGP1., [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": 10, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 10, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 10, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 30, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "O60378;Q6P3X9;Q8TCQ4;Q8WWT4;Q8WWT5;Q9NTG3", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005681 spliceosomal complex;GO:0005634 nucleus", "go_biological_process": "GO:0006397 mRNA processing;GO:0008380 RNA splicing", "synthesized_glycan_count": 0, "hit_score": 20.7, "record_id": "Q8IWZ8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q969R8-1", "uniprot_id": "ITFG2_HUMAN", "mass": 49313.0, "length": 447, "protein_name": "KICSTOR complex protein ITFG2", "gene_name": "ITFG2", "organism": "Human", "refseq_name": "KICSTOR complex protein ITFG2", "refseq_ac": "NP_060933", "gene_names_uniprotkb": "ITFG2", "gene_names_refseq": "FGGAP1; ITFG2; KICS3; MDS028", "protein_names_uniprotkb": "KICSTOR complex protein ITFG2; Integrin-alpha FG-GAP repeat-containing protein 2", "protein_names_refseq": "FG-GAP repeat containing 1; KICSTOR complex protein ITFG2; integrin-alpha FG-GAP repeat-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:55846); (R-HSA-9639288)", "pathway_count": 2, "publication_count": 68, "publication_id_list": "11237011;15854902;15878852;16098514;17470430;18497260;18604198;20381137;21872626;21993680;22053050;22424782;22544926;22575674;22980980;23186163;23481700;23723238;24081491;24095279;25259925;25263562;25457612;25561175;25567906;25576301;25819761;26375851;26449471;26586190;26811146;26972053;26992070;27308486;27487210;27648300;27846572;28066558;28199306;28199315;28904123;29053970;29056322;29123071;29236692;29242379;29493099;29557506;29786170;30061680;30181260;30651352;30779550;31154438;31844290;32157095;32357974;32938616;33298915;33592498;33912179;33936100;34211107;34357683;34561969;35051231;35580925;7499430", "class_list": "", "function": "As part of the KICSTOR complex functions in the amino acid-sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the RAG GTPases. Functions upstream of the RAG GTPases and is required to negatively regulate mTORC1 signaling in absence of amino acids. In absence of the KICSTOR complex mTORC1 is constitutively localized to the lysosome and activated. The KICSTOR complex is also probably involved in the regulation of mTORC1 by glucose., [UniProtKB, PubMed]; Identification of a protein complex (KICSTOR) that is composed of four proteins, KPTN, ITFG2, C12orf66 and SZT2, and that is required for amino acid or glucose deprivation to inhibit mTORC1 in cultured human 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A8K4Z5;D3DUQ2;Q6PKU5;Q96SX6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0140007 KICSTOR complex;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0042149 cellular response to glucose starvation;GO:0032006 regulation of TOR signaling;GO:0034198 cellular response to amino acid starvation;GO:1904262 negative regulation of TORC1 signaling;GO:0007229 integrin-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q969R8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y394-1", "uniprot_id": "DHRS7_HUMAN", "mass": 38299.0, "length": 339, "protein_name": "Dehydrogenase/reductase SDR family member 7", "gene_name": "DHRS7", "organism": "Human", "refseq_name": "dehydrogenase/reductase SDR family member 7 isoform 2", "refseq_ac": "NP_001309209", "gene_names_uniprotkb": "DHRS7; CGI-86; DHRS7A; PRO3448; RETSDR4; SDR34C1", "gene_names_refseq": "CGI-86; DHRS7; SDR34C1; retDSR4; retSDR4", "protein_names_uniprotkb": "Dehydrogenase/reductase SDR family member 7; 1.1.1.-; Protein SDR34C1; Retinal short-chain dehydrogenase/reductase 4; Short chain dehydrogenase/reductase family 34C member 1; retSDR4", "protein_names_refseq": "dehydrogenase/reductase (SDR family) member 7; dehydrogenase/reductase SDR family member 7 isoform 2; retinal short-chain dehydrogenase/reductase 4; short chain dehydrogenase/reductase family 34C member 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:51635)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "10800688;11237011;12975309;18491316;19027726;24246760;25576301;26311046;26466768;26992070;27920218;28457967;28510447;28687384;28832583;28834231;28904123;29216386;29242379;29437277;29557506;29632046;30410026;30429286;31844290;32157095;32938616;32983136;33592498;33633747;33912179;33968037;34087483;34357683;35051231;35580925;36284347;38201261;40914422", "class_list": "", "function": "Identification of new substrates of human DHRS7, [RefSeq, PubMed]; NADPH-dependent oxidoreductase which catalyzes the reduction of a variety of compounds bearing carbonyl groups including steroids, retinoids and xenobiotics (PubMed:24246760, PubMed:26466768, PubMed:28457967, PubMed:28687384). Catalyzes the reduction/inactivation of 5alpha-dihydrotestosterone to 3alpha-androstanediol, with a possible role in the modulation of androgen receptor function (PubMed:28457967, PubMed:28687384). Involved in the reduction of all-trans-retinal to all-trans-retinol (PubMed:26466768). Converts cortisone to 20beta-dihydrocortisone in vitro, although the physiological relevance of this activity is questionable (PubMed:28457967). Reduces exogenous compounds such as quinones (1,2-naphtoquinone, 9,10-phenantrenequinone and benzoquinone) and other xenobiotics (alpha-diketones) in vitro, suggesting a role in the biotransformation of xenobiotics with carbonyl group (PubMed:24246760, PubMed:26466768). A dehydrogenase activity has not been detected so far (PubMed:24246760). May play a role as tumor suppressor (PubMed:26311046)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Reduction in Nuclear Size by DHRS7 in Prostate Cancer Cells and by Estradiol Propionate in DHRS7-Depleted Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Single nucleotide polymorphism in DHRS7 gene is associated with smoking in African americans., [RefSeq, PubMed]; This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family, which has over 46,000 members. Members in this family are enzymes that metabolize many different compounds, such as steroid hormones, prostaglandins, retinoids, lipids and xenobiotics. [provided by RefSeq, Apr 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": 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": "B2R896;Q9UKU2", "ec_number_list": "1.1.1.300;1.1.1.-;1.1.1.64;1.1.1.54;1.1.1.216;1.1.1.21;1.1.1.372;1.1.1.225;1.1.1.357;1.1.1.62;1.1.1.209;1.1.1.51;1.1.1.210;1.1.1.53;1.1.1.188;1.1.1.239;1.1.1.112;1.3.1.20;1.1.1.270;1.1.1.149", "go_molecular_function": "GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;GO:0052650 all-trans-retinol dehydrogenase (NADP+) activity;GO:0004090 carbonyl reductase (NADPH) activity;GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q9Y394-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P20151-1", "uniprot_id": "KLK2_HUMAN", "mass": 28671.0, "length": 261, "protein_name": "Kallikrein-2", "gene_name": "KLK2", "organism": "Human", "refseq_name": "kallikrein-2 isoform 2 preproprotein", "refseq_ac": "NP_001002231", "gene_names_uniprotkb": "KLK2", "gene_names_refseq": "KLK2A2; KLK2; hGK-1; hK2", "protein_names_uniprotkb": "Kallikrein-2; 3.4.21.35; Glandular kallikrein-1; Tissue kallikrein-2; hGK-1", "protein_names_refseq": "glandular kallikrein 2; glandular kallikrein-1; kallikrein 2, prostatic; kallikrein-2 isoform 2 preproprotein; tissue kallikrein-2", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763); pancreatitis (Disease Ontology:DOID:4989)", "pathway": " (hsa:3817); (R-HSA-1592389); (R-HSA-381426); (R-HSA-5625886)", "pathway_count": 4, "publication_count": 120, "publication_id_list": "10026136;10077652;10218588;10391209;10512690;10544017;10614670;10681634;10810289;10898936;10912521;10951195;10990447;11054574;11158056;11237011;11250653;11264294;11316783;11522292;11606061;11739083;11751371;11788658;11830519;12241545;12379487;12466191;12514133;12810533;12904166;1311314;1370451;1371271;1383255;1390635;14759258;1480033;15126567;15308688;15469690;15485880;15525596;15642270;16079795;16603238;17047378;17249697;1726490;17312271;1783204;17985932;18066052;21178268;2159879;2169257;2176865;21932426;2269296;2383557;2476804;2479552;2546891;2551898;2557753;25662406;26022737;26091039;26154972;2824146;29557506;29938870;3058116;32628300;34486998;34932366;38396898;4216367;6263256;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7669817;7683646;7689487;7746327;7780967;7826345;7890645;7896811;7981201;8015608;8194591;8314771;8530478;8576151;8621565;8645182;8663255;8781553;8804434;8817670;8894645;8964575;9261109;9346290;9422744;9497324;9578462;9632662;9709957;9733769;9786878;9922210", "class_list": "", "function": "Early prediction of prostate cancer biochemical recurrence and identification of disease persistence using PSA isoforms and human kallikrein-2., [RefSeq, PubMed]; Genomic and Immunologic Correlates in Prostate Cancer with High Expression of KLK2. Publication Status: Online-Only, [RefSeq, PubMed]; Glandular kallikreins cleave Met-Lys and Arg-Ser bonds in kininogen to release Lys-bradykinin., [UniProtKB]; Reduced KLK2 expression is a strong and independent predictor of poor prognosis in ERG-negative prostate cancer., [RefSeq, PubMed]; This gene encodes a member of the grandular kallikrein protein family. Kallikreins are a subgroup of serine proteases that are clustered on chromosome 19. Members of this family are involved in a diverse array of biological functions. The protein encoded by this gene is a highly active trypsin-like serine protease that selectively cleaves at arginine residues. This protein is primarily expressed in prostatic tissue and is responsible for cleaving pro-prostate-specific antigen into its enzymatically active form. This gene is highly expressed in prostate tumor cells and may be a prognostic maker for prostate cancer risk. Alternate splicing results in both coding and non-coding transcript variants. [provided by RefSeq, Jan 2012]., [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": 0, "reported_glycation": 0, "reported_snv": 13, "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": "B4DU93;B4DUB0;F5H8L3;Q15946;Q9UJZ9", "ec_number_list": "3.4.21.35;3.4.21.77;3.4.21.4;3.4.21.37;3.4.21.20;3.4.24.35;3.4.21.1;3.4.24.34;2.7.11.1;2.7.11.13;3.4.21.-", "go_molecular_function": "GO:0004252 serine-type endopeptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0030141 secretory granule;GO:0070062 extracellular exosome", "go_biological_process": "GO:0003073 regulation of systemic arterial blood pressure;GO:0031638 zymogen activation;GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 12.2, "record_id": "P20151-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P78508-1", "uniprot_id": "KCJ10_HUMAN", "mass": 42508.0, "length": 379, "protein_name": "ATP-sensitive inward rectifier potassium channel 10", "gene_name": "KCNJ10", "organism": "Human", "refseq_name": "ATP-sensitive inward rectifier potassium channel 10", "refseq_ac": "NP_002232", "gene_names_uniprotkb": "KCNJ10", "gene_names_refseq": "BIRK-10; KCNJ10; KCNJ13-PEN; KIR1.2; KIR4.1; SESAME", "protein_names_uniprotkb": "ATP-sensitive inward rectifier potassium channel 10; ATP-dependent inwardly rectifying potassium channel Kir4.1; Inward rectifier K(+) channel Kir1.2; Potassium channel, inwardly rectifying subfamily J member 10", "protein_names_refseq": "ATP-dependent inwardly rectifying potassium channel Kir4.1; ATP-sensitive inward rectifier potassium channel 10; glial ATP-dependent inwardly rectifying potassium channel KIR4.1; inward rectifier K(+) channel Kir1.2; inward rectifier K+ channel KIR1.2; potassium channel, inwardly rectifying subfamily J member 10; potassium voltage-gated channel subfamily J member 10", "tax_id": 9606, "disease": "EAST syndrome (Disease Ontology:DOID:0060484); autosomal recessive nonsyndromic deafness 4 (Disease Ontology:DOID:0110498); sensorineural hearing loss (Disease Ontology:DOID:10003); uveitis (Disease Ontology:DOID:13141); retinal vein occlusion (Disease Ontology:DOID:1727); transient cerebral ischemia (Disease Ontology:DOID:224); reflex epilepsy (Disease Ontology:DOID:2548); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); epilepsy with generalized tonic-clonic seizures (Disease Ontology:DOID:7725); retinal degeneration (Disease Ontology:DOID:8466); diabetic retinopathy (Disease Ontology:DOID:8947)", "pathway": " (hsa:3766); (R-HSA-1296041); (R-HSA-1296067); (R-HSA-997272)", "pathway_count": 4, "publication_count": 35, "publication_id_list": "10659995;11237011;17185339;18303016;19221509;19289823;19420365;20453851;20651251;20655490;20807765;21849804;22612257;23873931;24561201;27600516;27862975;28887846;29557506;29786170;30568303;31154438;31844290;31848261;32938616;34087483;34185709;34685608;35580925;36426918;36499699;36748152;37938771;38436103;8995301", "class_list": "", "function": "Analysis of SLC26A4, FOXI1, and KCNJ10 Gene Variants in Patients with Incomplete Partition of the Cochlea and Enlarged Vestibular Aqueduct (EVA) Anomalies. Publication Status: Online-Only, [RefSeq, PubMed]; Kir4.1 Dysfunction in the Pathophysiology of Depression: A Systematic Review. Publication Status: Online-Only, [RefSeq, PubMed]; May be responsible for potassium buffering action of glial cells in the brain (By similarity). Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it (PubMed:8995301). Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages (PubMed:8995301). The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium and cesium (PubMed:8995301). In the kidney, together with KCNJ16, mediates basolateral K(+) recycling in distal tubules; this process is critical for Na(+) reabsorption at the tubules (PubMed:24561201)., [UniProtKB, PubMed, PubMed, UniProtKB]; Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia., [RefSeq, PubMed]; Spinocerebellar ataxia in the Bouvier des Ardennes breed is caused by a KCNJ10 missense variant., [RefSeq, PubMed]; This gene encodes a member of the inward rectifier-type potassium channel family, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. The encoded protein may form a heterodimer with another potassium channel protein and may be responsible for the potassium buffering action of glial cells in the brain. Mutations in this gene have been associated with seizure susceptibility of common idiopathic generalized epilepsy syndromes. [provided by RefSeq, Jul 2008]., [RefSeq]; [Analysis of genotypes on 850 newborns with SLC26A4 single-allele mutation and the phenotypes of those with second 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 6, "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": "A3KME7;Q5VUT9;Q8N4I7;Q92808", "ec_number_list": "1.8.-.-", "go_molecular_function": "GO:0005524 ATP binding;GO:0015272 ATP-activated inward rectifier potassium channel activity;GO:0005242 inward rectifier potassium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0097449 astrocyte projection;GO:0044297 cell body;GO:0097546 ciliary base", "go_biological_process": "GO:0006813 potassium ion transport;GO:1905515 non-motile cilium assembly;GO:1990573 potassium ion import across plasma membrane;GO:0071805 potassium ion transmembrane transport;GO:0035865 cellular response to potassium ion", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "P78508-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H2U2-1", "uniprot_id": "IPYR2_HUMAN", "mass": 37920.0, "length": 334, "protein_name": "Inorganic pyrophosphatase 2, mitochondrial", "gene_name": "PPA2", "organism": "Human", "refseq_name": "inorganic pyrophosphatase 2, mitochondrial isoform 2 precursor", "refseq_ac": "NP_008834", "gene_names_uniprotkb": "PPA2; HSPC124", "gene_names_refseq": "HSPC124; PPA2; SCFAI; SCFI; SID6-306", "protein_names_uniprotkb": "Inorganic pyrophosphatase 2, mitochondrial; 3.6.1.1; PPase 2; Pyrophosphatase SID6-306; Pyrophosphate phospho-hydrolase 2", "protein_names_refseq": "PPase 2; inorganic pyrophosphatase 2, mitochondrial isoform 2 precursor; inorganic pyrophosphatase 2, mitochondrial; pyrophosphatase (inorganic) 2; pyrophosphatase SID6-306; pyrophosphate phospho-hydrolase 2", "tax_id": 9606, "disease": "myocarditis (Disease Ontology:DOID:820); sudden cardiac failure, infantile (MONDO:MONDO:0014973); sudden cardiac failure, alcohol-induced (MONDO:MONDO:0014974)", "pathway": " (hsa:27068); (R-HSA-379726); (R-HSA-71737)", "pathway_count": 3, "publication_count": 88, "publication_id_list": "10.1101/2023.09.13.557529;10329163;10684970;10764807;10828066;11230166;11237011;12665801;12690580;12801912;15210126;15274629;15779907;16300924;16430861;17322306;17384640;17847012;18452278;18669648;18767875;19608861;19651622;19664994;20068231;20230923;21406692;23186163;23481700;24275569;24715725;25505266;25892735;26154972;26375851;26768311;26992070;27452731;27523597;27523598;27846572;27920218;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29351928;29393594;29493099;29508533;29769354;29786170;30030002;30315122;30379171;30779550;30833945;31530632;31705601;31844290;32161166;32350084;32502341;32938616;32983136;33036755;33537174;33592498;33717175;33912179;33936100;33968037;34171305;34357683;34400813;35051231;35154160;36241641;36581221;37938771;40596516;7755634;8078941;9278442;9466989", "class_list": "", "function": "Hydrolyzes inorganic pyrophosphate (PubMed:27523597). This activity is essential for correct regulation of mitochondrial membrane potential, and mitochondrial organization and function (PubMed:27523598)., [UniProtKB, PubMed, PubMed]; No pathogenic mutations were identified in the PPA2 gene in patients with mitochondrial DNA depletion syndromes (MDS)., [RefSeq, PubMed]; PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families. Erratum:[Genet Med. 2022 Apr;24(4):967. doi: 10.1016/j.gim.2022.02.002. PMID: 35394429], [RefSeq, PubMed]; Structural and biochemical characterization of inorganic pyrophosphatase from Homo sapiens., [RefSeq, PubMed]; Sudden unexpected death in asymptomatic infants due to PPA2 variants., [RefSeq, PubMed]; The protein encoded by this gene is localized to the mitochondrion, is highly similar to members of the inorganic pyrophosphatase (PPase) family, and contains the signature sequence essential for the catalytic activity of PPase. PPases catalyze the hydrolysis of pyrophosphate to inorganic phosphate, which is important for the phosphate metabolism of cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [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": 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": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B4DLP7;F8WDN9;I6L9B6;Q4W5E9;Q6PG51;Q8TBW0;Q96E55;Q9H0T0;Q9NX37;Q9P033;Q9ULX0", "ec_number_list": "3.1.3.1;3.9.1.1;3.6.1.1;3.1.3.-", "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0004722 protein serine/threonine phosphatase activity;GO:0004427 inorganic diphosphate phosphatase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0045202 synapse;GO:0005737 cytoplasm", "go_biological_process": "GO:0071344 diphosphate metabolic process;GO:0051881 regulation of mitochondrial membrane potential;GO:0006796 phosphate-containing compound metabolic process", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "Q9H2U2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NQI0-1", "uniprot_id": "DDX4_HUMAN", "mass": 79308.0, "length": 724, "protein_name": "Probable ATP-dependent RNA helicase DDX4", "gene_name": "DDX4", "organism": "Human", "refseq_name": "probable ATP-dependent RNA helicase DDX4 isoform 2", "refseq_ac": "NP_001136021", "gene_names_uniprotkb": "DDX4; VASA", "gene_names_refseq": "DDX4; VASA", "protein_names_uniprotkb": "Probable ATP-dependent RNA helicase DDX4; 3.6.4.13; DEAD box protein 4; Vasa homolog", "protein_names_refseq": "DEAD (Asp-Glu-Ala-Asp) box polypeptide 4; DEAD box protein 4; DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4; probable ATP-dependent RNA helicase DDX4 isoform 2; probable ATP-dependent RNA helicase DDX4; vasa homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:54514); (R-HSA-5601884); (R-HSA-9696264)", "pathway_count": 3, "publication_count": 35, "publication_id_list": "10920202;11237011;11850529;11940653;12842009;15738000;16112985;17486274;18534994;18922463;18996843;19608861;20811643;21034600;21421998;21465557;22233380;23056369;23481700;23826142;23980886;24656595;26969432;27622290;29557506;30379171;31154438;31212843;31871319;32847044;34211107;36241908;36347925;36653474;8649376", "class_list": "", "function": "ATP-dependent RNA helicase required during spermatogenesis (PubMed:10920202, PubMed:21034600). Required to repress transposable elements and preventing their mobilization, which is essential for the germline integrity (By similarity). Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons (By similarity). Involved in the secondary piRNAs metabolic process, the production of piRNAs in fetal male germ cells through a ping-pong amplification cycle (By similarity). Required for PIWIL2 slicing-triggered piRNA biogenesis: helicase activity enables utilization of one of the slice cleavage fragments generated by PIWIL2 and processing these pre-piRNAs into piRNAs (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a homolog of VASA proteins in Drosophila and several other species. The gene is specifically expressed in the germ cell lineage in both sexes and functions in germ cell development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]., [RefSeq]; DEAD-Box Helicase 4 (Ddx4)(+) Stem Cells Sustain Tumor Progression in Non-Serous Ovarian Cancers. Publication Status: Online-Only, [RefSeq, PubMed]; Discriminating activities of DEAD-Box Helicase 41 from myeloid malignancy-associated germline variants by genetic rescue., [RefSeq, PubMed]; Marker for normal and malignant germ cells, [RefSeq, PubMed]; The expression of VASA mRNA and protein was significantly decreased in the sperm of oligozoospermic men., [RefSeq, PubMed]; The germline factor DDX4 contributes to the chemoresistance of small cell lung cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; This study clearly demonstrates that the C-terminus of DDX4 can be expressed on the cell surface despite its lack of a conventional membrane-targeting or secretory sequence. Publication Status: Online-Only, [RefSeq, PubMed]; VASA protein and gene expression analysis of human non-obstructive azoospermia and normal by immunohistochemistry, immunocytochemistry, and bioinformatics analysis. Publication Status: Online-Only, [RefSeq, PubMed]; VASA showed a differential pattern of expression throughout the differentiation and proliferative phase and prophase I to finally associate with Balbiani's body in primordial and primary follicles., [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": 24, "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": "A8K8Q2;B3KSF4;D6RDK4;E9PCD8;Q5M7Z3;Q86VX0;Q9NT92;Q9NYB1", "ec_number_list": "5.6.2.4;3.6.1.-;3.6.4.-;3.6.4.13;3.6.4.6;3.6.1.5;2.7.7.7;2.7.7.49;3.4.17.22;3.6.4.10;3.1.3.1;3.9.1.1;2.7.3.2;4.2.99.18;5.6.1.6;5.6.2.3;3.6.4.12;2.7.10.1;3.4.21.53;5.6.2.5;3.1.-.-;3.6.5.-;3.6.5.2;7.6.2.1;3.1.3.48;2.7.11.39;2.3.2.27;7.2.2.-;5.6.2.-;2.1.1.386;2.3.2.-;2.7.11.1;3.1.26.-;3.6.1.15;3.1.4.-;3.6.-.-;3.4.24.-;3.1.13.1;5.6.2.6;3.4.-.-;2.7.4.3", "go_molecular_function": "GO:0003729 mRNA binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0003724 RNA helicase activity;GO:0140693 molecular condensate scaffold activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0048471 perinuclear region of cytoplasm;GO:0071546 pi-body;GO:0071547 piP-body", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0030317 flagellated sperm motility;GO:0007281 germ cell development;GO:0007140 male meiotic nuclear division", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q9NQI0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q08AG5-1", "uniprot_id": "ZN844_HUMAN", "mass": 76934.0, "length": 666, "protein_name": "Zinc finger protein 844", "gene_name": "ZNF844", "organism": "Human", "refseq_name": "zinc finger protein 844", "refseq_ac": "NP_001129973", "gene_names_uniprotkb": "ZNF844", "gene_names_refseq": "ZNF844", "protein_names_uniprotkb": "Zinc finger protein 844", "protein_names_refseq": "zinc finger protein 844", "tax_id": 9606, "disease": "", "pathway": " (hsa:284391)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "10.1101/2023.09.13.557529;11237011;25576301;25645385;25880248;25892735;26154972;26375851;27600516;27846572;27862975;28218747;28228285;28832583;28904123;29242379;29331515;29393594;29493099;29508533;29557506;29769354;29789417;30315122;30379171;30410026;30429286;31154438;31222486;31844290;31848261;32157095;32357974;32502341;32938616;32983136;33298915;33592498;33691108;33717175;33912179;33968037;33981976;34932366;35051231;35318648;35580925;36010968", "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": 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": 24, "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": "Q5JPI8", "ec_number_list": "", "go_molecular_function": "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: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": 5.3, "record_id": "Q08AG5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UMR2-1", "uniprot_id": "DD19B_HUMAN", "mass": 53927.0, "length": 479, "protein_name": "ATP-dependent RNA helicase DDX19B", "gene_name": "DDX19B", "organism": "Human", "refseq_name": "ATP-dependent RNA helicase DDX19B isoform 3", "refseq_ac": "NP_001014449", "gene_names_uniprotkb": "DDX19B; DBP5; DDX19; TDBP", "gene_names_refseq": "DBP5; DDX19B; DDX19; RNAh", "protein_names_uniprotkb": "ATP-dependent RNA helicase DDX19B; 3.6.4.13; DEAD box RNA helicase DEAD5; DEAD box protein 19B", "protein_names_refseq": "ATP-dependent RNA helicase DDX19B isoform 3; ATP-dependent RNA helicase DDX19B; ATP-dependent RNA helicase DDX19; DEAD (Asp-Glu-Ala-As) box polypeptide 19B; DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B; DEAD box protein 19B; DEAD-box RNA helicase DEAD5; DEAD-box protein 5; DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 19 (Dbp5, yeast, homolog); dead box protein 5 homolog; yeast Dbp5 homolog", "tax_id": 9606, "disease": "autosomal recessive spinocerebellar ataxia 13 (Disease Ontology:DOID:0080062); spinocerebellar ataxia 44 (Disease Ontology:DOID:0080286); temporal lobe epilepsy (Disease Ontology:DOID:3328); uveal melanoma (Disease Ontology:DOID:6039); skin melanoma (Disease Ontology:DOID:8923)", "pathway": " (hsa:11269)", "pathway_count": 1, "publication_count": 54, "publication_id_list": "10428971;11230166;11237011;12219940;18669648;19208808;19219046;19244245;20068231;20112406;22223895;23301498;24714562;24715725;25418920;25576301;26811146;26992070;27397612;27862975;28510447;28904123;29493099;29557506;30315122;30397120;30429286;30779550;31222486;31530632;31848261;31998317;32119511;32157095;32502341;32897882;32938616;32983136;33141586;33205304;33691108;33968037;34019948;34232997;34509645;34561969;34932366;35051231;35080244;35318648;35580925;36010968;36241641;37938771", "class_list": "", "function": "ATP-dependent RNA helicase involved in mRNA export from the nucleus (PubMed:10428971). Rather than unwinding RNA duplexes, DDX19B functions as a remodeler of ribonucleoprotein particles, whereby proteins bound to nuclear mRNA are dissociated and replaced by cytoplasmic mRNA binding proteins (PubMed:10428971)., [UniProtKB, PubMed]; DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which exhibits RNA-dependent ATPase and ATP-dependent RNA-unwinding activities. This protein is recruited to the cytoplasmic fibrils of the nuclear pore complex, where it participates in the export of mRNA from the nucleus. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Emerging molecular functions and novel roles for the DEAD-box protein Dbp5/DDX19 in gene expression. Review article, [RefSeq, PubMed]; Identification and characterization of a gene coding a novel isoform, [RefSeq, PubMed]; SUMOylation modulates the function of DDX19 in mRNA export., [RefSeq, PubMed]; Translation mediated by the nuclear cap-binding complex is confined to the perinuclear region via a CTIF-DDX19B interaction., [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": 5, "reported_glycation": 0, "reported_snv": 3, "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": "B3KNE9;B4DXS6;E7EMK4;Q6FIB7;Q6IAE0;Q96KE7;Q9H0U0", "ec_number_list": "5.6.2.4;3.6.1.-;3.6.4.-;3.6.4.13;3.6.4.6;3.6.1.5;2.7.7.7;2.7.7.49;3.6.4.10;3.1.3.1;3.9.1.1;4.2.99.18;5.6.1.6;5.6.2.3;3.6.4.12;3.4.21.53;5.6.2.5;3.1.-.-;3.6.5.-;7.6.2.1;2.3.2.27;7.2.2.-;5.6.2.-;2.3.2.-;2.7.11.1;3.6.1.15;3.1.4.-;3.6.-.-;3.4.24.-;3.1.13.1;5.6.2.6;3.4.-.-;2.7.4.3", "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0004386 helicase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005643 nuclear pore;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0016973 poly(A)+ mRNA export from nucleus;GO:0006406 mRNA export from nucleus", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q9UMR2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y265-1", "uniprot_id": "RUVB1_HUMAN", "mass": 50228.0, "length": 456, "protein_name": "RuvB-like 1", "gene_name": "RUVBL1", "organism": "Human", "refseq_name": "ruvB-like 1 isoform 2", "refseq_ac": "NP_001306013", "gene_names_uniprotkb": "RUVBL1; INO80H; NMP238; TIP49A; TIP49", "gene_names_refseq": "ECP-54; ECP54; INO80H; NMP 238; NMP238; PONTIN; Pontin52; RUVBL1; RVB1; TIH1; TIP49A; TIP49", "protein_names_uniprotkb": "RuvB-like 1; 3.6.4.12; 49 kDa TATA box-binding protein-interacting protein; 49 kDa TBP-interacting protein; 54 kDa erythrocyte cytosolic protein; ECP-54; INO80 complex subunit H; NMP 238; Nuclear matrix protein 238; Pontin 52; TAP54-alpha; TIP49a; TIP60-associated protein 54-alpha", "protein_names_refseq": "49 kDa TATA box-binding protein-interacting protein; 49 kDa TBP-interacting protein; 54 kDa erythrocyte cytosolic protein; INO80 complex subunit H; RuvB (E coli homolog)-like 1; RuvB-like AAA ATPase; TAP54-alpha; TATA binding protein interacting protein 49 kDa; TIP60-associated protein 54-alpha; epididymis secretory sperm binding protein; nuclear matrix protein 238; pontin 52; ruvB-like 1 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:8607); (R-HSA-171319); (R-HSA-201722); (R-HSA-3214847); (R-HSA-5689603); (R-HSA-5689880); (R-HSA-5696394); (R-HSA-606279)", "pathway_count": 8, "publication_count": 314, "publication_id_list": "10080941;10391953;10428817;10444327;10485845;10524211;10769018;10775268;10786633;10821277;10831834;10882073;10966108;10982817;11027681;11050151;11080158;11136974;11237011;11279143;11532957;11566882;11713476;11839798;11923872;11934263;11955446;11973335;11988739;12163411;12699629;12732143;12815074;12917689;12917691;12944386;12963728;14506706;14661020;14695187;14742321;14966270;15053880;15060161;15060173;15121853;15189140;15294866;15313887;15369671;15768032;15811629;15829968;15882621;15916963;15960975;15964821;16005293;16014379;16169192;16214042;16223728;16230350;16339074;16387653;16473935;16510874;16522649;16622420;16630820;16678110;16756492;16901786;16906146;16964248;17052462;17060327;17139257;17157868;17172855;17199038;17290220;17339379;17395830;17425782;17428831;17443180;17458864;17636026;17761535;17873522;17882165;17967892;17980597;17981138;18026119;18160704;18172164;18347063;18358808;18381289;18404694;18467330;18497827;18498752;18523010;18623064;18632802;18636086;19015242;19054851;19109893;19135894;19148484;19179534;19187765;19188362;19188440;19299493;19363159;19383767;19398555;19398759;19410544;19410545;19424180;19460168;19487454;19493659;19571879;19608861;19609301;19734544;19815555;19838211;19874889;19910467;20018852;20068231;20080577;20096447;20228808;20368735;20404094;20436459;20501646;20524933;20566683;20805357;20855601;20864032;21135142;21239494;21303910;21362556;21388382;21571647;21596315;21654818;21659512;21726809;21740066;21768289;21849505;21962518;22029577;22085928;22118460;22128162;22186018;22190459;22216260;22579284;22617422;22982193;23045548;23103865;23159851;23301498;23319653;23395819;23486064;23657261;23824326;23825189;24056413;24260525;24366607;24463511;24493797;24896179;25114211;25128433;25197364;25218447;25271372;25305019;2530630;25336637;25437307;25576301;25578727;25620558;25755297;25880248;26154972;26201077;26812014;26992070;27090790;27452731;27566657;27846572;27920218;28228285;28467828;28510447;28561026;28832583;28904123;29178645;29317506;29331515;29493099;29508533;29557506;29695869;29774024;30192525;30337683;30484775;30524438;30779550;30833945;31020640;31121004;31154438;31217245;31222486;31530632;31723267;31738558;31844290;31848261;31937595;31998317;32119511;32157095;32350084;32357974;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33205750;33214551;33298915;33367824;33592498;33691108;33717175;33912179;33936100;33968037;34019948;34087483;34171305;34211107;34357683;34433824;34561969;34725712;34932366;35051231;35083852;35154160;35251023;35561310;35580925;36010968;36161484;36215666;36241641;36284347;36581221;37349884;37541187;37938771;37962355;38665916;38900944;40914422;7578059;8168482;8756721;8757136;8955148;9118222;9427644;9488439;9490669;9528852;9558366;9588198;9751710;9774387;9790970;9813143;9819412;9843967;9880483", "class_list": "", "function": "Adenovirus E1A binding to DCAF10 targets proteasomal degradation of RUVBL1/2 AAA+ ATPases required for quaternary assembly of multiprotein machines, innate immunity, and responses to metabolic stress., [RefSeq, PubMed]; Combined CRISPRi and proteomics screening reveal a cohesin-CTCF-bound allele contributing to increased expression of RUVBL1 and prostate cancer progression., [RefSeq, PubMed]; Downregulation of AHNAK2 inhibits cell cycle of lung adenocarcinoma cells by interacting with RUVBL1., [RefSeq, PubMed]; Possesses single-stranded DNA-stimulated ATPase and ATP-dependent DNA helicase (3' to 5') activity; hexamerization is thought to be critical for ATP hydrolysis and adjacent subunits in the ring-like structure contribute to the ATPase activity (PubMed:17157868, PubMed:33205750). Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A (PubMed:14966270). This modification may both alter nucleosome-DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription (PubMed:14966270). This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair (PubMed:14966270). The NuA4 complex ATPase and helicase activities seem to be, at least in part, contributed by the association of RUVBL1 and RUVBL2 with EP400. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage (PubMed:14966270). Component of a SWR1-like complex that specifically mediates the removal of histone H2A.Z/H2AZ1 from the nucleosome (PubMed:24463511). Proposed core component of the chromatin remodeling INO80 complex which exhibits DNA- and nucleosome-activated ATPase activity and catalyzes ATP-dependent nucleosome sliding (PubMed:16230350, PubMed:21303910). Plays an essential role in oncogenic transformation by MYC and also modulates transcriptional activation by the LEF1/TCF1-CTNNB1 complex (PubMed:10882073, PubMed:16014379). Essential for cell proliferation (PubMed:14506706). May be able to bind plasminogen at cell surface and enhance plasminogen activation (PubMed:11027681)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Proposed core component of the chromatin remodeling Ino80 complex which exhibits DNA- and nucleosome-activated ATPase activity and catalyzes ATP-dependent nucleosome sliding., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; RUVBL1/2 Blockade Targets YTHDF1 Activity to Suppress m6A-Dependent Oncogenic Translation and Colorectal Tumorigenesis., [RefSeq, PubMed]; Reptin and Pontin oligomerization and activity are modulated through histone H3 N-terminal tail interaction., [RefSeq, PubMed]; This gene encodes a protein that has both DNA-dependent ATPase and DNA helicase activities and belongs to the ATPases associated with diverse cellular activities (AAA+) protein family. The encoded protein associates with several multisubunit transcriptional complexes and with protein complexes involved in both ATP-dependent remodeling and histone modification. 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": 4, "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": "B2R5S0;P82276;Q1KMR0;Q53HK5;Q53HL7;Q53Y27;Q9BSX9", "ec_number_list": "5.6.2.4;3.6.1.-;3.6.4.-;3.6.4.13;2.7.7.49;5.4.99.-;3.6.4.6;3.6.1.5;2.7.7.7;3.6.4.10;3.1.3.1;3.9.1.1;4.2.99.18;5.6.1.6;5.6.2.3;3.6.4.12;3.4.21.53;5.6.2.5;3.1.-.-;1.14.11.-;3.6.5.-;2.3.2.27;2.3.2.32;7.6.2.1;7.2.2.-;5.6.2.-;2.3.2.-;3.4.19.12;2.7.11.1;3.6.1.15;3.1.4.-;3.6.-.-;3.4.-.-;2.3.1.48;2.3.1.-;3.4.24.-;3.1.13.1;5.6.2.6;2.7.4.3", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0005524 ATP binding;GO:0051117 ATPase binding;GO:0016887 ATP hydrolysis activity;GO:0043531 ADP binding", "go_cellular_component": "GO:0097255 R2TP complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005813 centrosome;GO:0005829 cytosol", "go_biological_process": "GO:0060382 regulation of DNA strand elongation;GO:0033044 regulation of chromosome organization;GO:0090671 telomerase RNA localization to Cajal body;GO:0006281 DNA repair;GO:0006310 DNA recombination", "synthesized_glycan_count": 0, "hit_score": 31.7, "record_id": "Q9Y265-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NPA1-1", "uniprot_id": "KCMB3_HUMAN", "mass": 31604.0, "length": 279, "protein_name": "Calcium-activated potassium channel subunit beta-3", "gene_name": "KCNMB3", "organism": "Human", "refseq_name": "calcium-activated potassium channel subunit beta-3 isoform e", "refseq_ac": "NP_001157149", "gene_names_uniprotkb": "KCNMB3; KCNMB2; KCNMBL", "gene_names_refseq": "BKBETA3; HBETA3; K(VCA)BETA-3; KCNMB2; KCNMB3; KCNMBL; SLO-BETA-3; SLOBETA3", "protein_names_uniprotkb": "Calcium-activated potassium channel subunit beta-3; BK channel subunit beta-3; BKbeta3; Calcium-activated potassium channel, subfamily M subunit beta-3; Charybdotoxin receptor subunit beta-3; Hbeta3; K(VCA)beta-3; Maxi K channel subunit beta-3; Slo-beta-3", "protein_names_refseq": "BK channel beta subunit 3; BK channel subunit beta-3; MaxiK channel beta-subunit 3; big potassium channel beta subunit 3; calcium-activated potassium channel regulatory subunit; calcium-activated potassium channel subunit beta-3 isoform e; calcium-activated potassium channel, subfamily M subunit beta-3; charybdotoxin receptor subunit beta-3; large conductance, voltage and Ca2+ activated potassium channel Maxi K beta 3 subunit; maxi K channel subunit beta-3; potassium channel subfamily M regulatory beta subunit 3; potassium large conductance calcium-activated channel, subfamily M beta member 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:27094); (R-HSA-1296052); (R-HSA-418457)", "pathway_count": 3, "publication_count": 22, "publication_id_list": "10585773;10692449;10766764;10792058;10828459;10864947;11237011;11382808;11382809;12136044;12740608;14612589;16990611;19074509;19204046;20178789;20859064;23826284;31364720;34087483;35051231;8557689", "class_list": "", "function": "MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which may partially inactivate or slightly decrease the activation time of MaxiK alpha subunit currents. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 22. [provided by RefSeq, Jul 2009]., [RefSeq]; Regulatory subunit of the calcium activated potassium KCNMA1 (maxiK) channel. Modulates the calcium sensitivity and gating kinetics of KCNMA1, thereby contributing to KCNMA1 channel diversity. Alters the functional properties of the current expressed by the KCNMA1 channel. Isoform 2, isoform 3 and isoform 4 partially inactivate the current of KCNBMA. Isoform 4 induces a fast and incomplete inactivation of KCNMA1 channel that is detectable only at large depolarizations. In contrast, isoform 1 does not induce detectable inactivation of KCNMA1. Two or more subunits of KCNMB3 are required to block the KCNMA1 tetramer., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Report beta subunit (KNMB1-4)-specific modulations of BK channel function by a Slo1 mutation associated with epilepsy and dyskinesia., [RefSeq, PubMed]; Single-nucleotide polymorphism in KCNMB3 gene is associated with Insulin Resistance. Publication Status: Online-Only, [RefSeq, PubMed]; The results from the present study suggested that BK channels modulated the activation state of spinal microglia, and that KCNMB3 is a potential therapeutic target for neuropathic pain., [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": 0, "reported_glycation": 0, "reported_snv": 9, "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": "B7Z9C9;D3DNR2;E9PER5;Q9NPG7;Q9NRM9;Q9UHN3", "ec_number_list": "", "go_molecular_function": "GO:0015459 potassium channel regulator activity;GO:0015269 calcium-activated potassium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0008076 voltage-gated potassium channel complex", "go_biological_process": "GO:0019228 neuronal action potential;GO:0001508 action potential;GO:0006813 potassium ion transport;GO:0005513 detection of calcium ion", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q9NPA1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99712-1", "uniprot_id": "KCJ15_HUMAN", "mass": 42577.0, "length": 375, "protein_name": "ATP-sensitive inward rectifier potassium channel 15", "gene_name": "KCNJ15", "organism": "Human", "refseq_name": "ATP-sensitive inward rectifier potassium channel 15", "refseq_ac": "NP_001263364", "gene_names_uniprotkb": "KCNJ15; KCNJ14", "gene_names_refseq": "IRKK; KCNJ15; KIR1.3; KIR4.2", "protein_names_uniprotkb": "ATP-sensitive inward rectifier potassium channel 15; Inward rectifier K(+) channel Kir1.3; Inward rectifier K(+) channel Kir4.2; Potassium channel, inwardly rectifying subfamily J member 15", "protein_names_refseq": "ATP-sensitive inward rectifier potassium channel 15; inward rectifier K(+) channel Kir1.3; inward rectifier K(+) channel Kir4.2; inward rectifier K+ channel KIR4.2; potassium channel, inwardly rectifying subfamily J member 15; potassium voltage-gated channel subfamily J member 15", "tax_id": 9606, "disease": "", "pathway": " (hsa:3772); (R-HSA-1296041); (R-HSA-997272)", "pathway_count": 3, "publication_count": 18, "publication_id_list": "11237011;16959974;17185339;20453851;20655490;26449415;27100087;27726376;29557506;31154438;32052303;32938616;33592498;33802862;35580925;8995301;9299242;9647694", "class_list": "", "function": "Hunting for Familial Parkinson's Disease Mutations in the Post Genome Era. Publication Status: Online-Only, [RefSeq, PubMed]; Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium., [UniProtKB, UniProtKB]; KCNJ15 Expression and Malignant Behavior of Esophageal Squamous Cell Carcinoma., [RefSeq, PubMed]; KCNJ15 couples with polyamines in sensing weak electric fields. Publication Status: Online-Only, [RefSeq, PubMed]; Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Eight transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Feb 2013]., [RefSeq]; RNA-seq evidence of biallelic expression of KCNJ15 and 10 neighboring genes in at least one primary human tissue tested indicates that the expression of KCNJ15 is uncoupled from the control of the maternally inherited 5mCpG imprints at the WRB differentially methylated region (DMR) in disomic controls or trisomy (Down syndrome) individuals. 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": 10, "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": "D3DSH5;O00564;Q96L28;Q99446", "ec_number_list": "1.8.-.-", "go_molecular_function": "GO:0005242 inward rectifier potassium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0034702 monoatomic ion channel complex;GO:0016020 membrane", "go_biological_process": "GO:0006813 potassium ion transport;GO:1990573 potassium ion import across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q99712-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UJU2-1", "uniprot_id": "LEF1_HUMAN", "mass": 44201.0, "length": 399, "protein_name": "Lymphoid enhancer-binding factor 1", "gene_name": "LEF1", "organism": "Human", "refseq_name": "lymphoid enhancer-binding factor 1 isoform 2", "refseq_ac": "NP_001124185", "gene_names_uniprotkb": "LEF1", "gene_names_refseq": "ECTD17; ECTD1; LEF-1; LEF1; TCF10; TCF1ALPHA; TCF7L3", "protein_names_uniprotkb": "Lymphoid enhancer-binding factor 1; LEF-1; T cell-specific transcription factor 1-alpha; TCF1-alpha", "protein_names_refseq": "T cell-specific transcription factor 1-alpha; TCF1-alpha; lymphoid enhancer-binding factor 1 isoform 2", "tax_id": 9606, "disease": "rheumatic heart disease (Disease Ontology:DOID:0050827); prostate cancer (Disease Ontology:DOID:10283); anxiety disorder (Disease Ontology:DOID:2030); ovarian cancer (Disease Ontology:DOID:2394); papillary thyroid carcinoma (Disease Ontology:DOID:3969); prostate carcinoma in situ (Disease Ontology:DOID:8634); obesity (Disease Ontology:DOID:9970); ectodermal dysplasia 17 with or without limb malformations (MONDO:MONDO:0979228)", "pathway": " (hsa:51176); (R-HSA-201722); (R-HSA-3769402); (R-HSA-4086398); (R-HSA-4411364); (R-HSA-4641265); (R-HSA-8853884); (R-HSA-8951430); (R-HSA-9616222); (R-HSA-9733709); (R-HSA-9754189); (R-HSA-9793380); (R-HSA-9796292); (R-HSA-9824272); (R-HSA-9824585); (R-HSA-9825892); (R-HSA-9856649); (R-HSA-9909649)", "pathway_count": 18, "publication_count": 332, "publication_id_list": "10080941;10201372;10233885;10318916;10330422;10375506;10380924;10391246;10391247;10395542;10441331;10485845;10488343;10549281;10559189;10567402;10587587;10588714;10611221;10655586;10673502;10756202;10769018;10770922;10775268;10777564;10831834;10858654;10898789;10919662;10921920;10944533;11015615;11027551;11030334;11050151;11062467;11080158;11136974;11237011;11242107;11266540;11290324;11326276;11340171;11369759;11532957;11532965;11563835;11564866;11684017;11691915;11713476;11809808;11809809;11840323;11856727;11867521;11891324;11912130;11930005;11934263;11940574;11955446;11964381;11973335;11988739;12015605;12062444;12086864;12163411;12192039;12242300;12408824;12408825;12471263;12482967;12556497;12702500;12711682;12712206;12729560;12869508;12975316;1321344;14517214;14600025;14685266;14695187;14704854;14759258;14975237;14977528;15060161;15095414;15110706;15118077;15121853;15132997;15187083;15226305;15294866;15327769;1537333;1537334;15494017;15507434;15525529;15543135;15545263;15611108;15695812;15729346;15768032;15829968;16005293;16014379;16034366;16169192;16303920;16510874;16547505;16630820;16751774;16756492;16822840;16880514;16920709;16959974;1698554;17052462;17063141;17068183;17113388;17182843;17218525;17377531;17412698;17425782;17426020;17428831;17458864;1748288;17562868;17623675;17684012;17698607;17875931;17923689;17952075;18042803;18160704;18347063;18378692;18404694;18456304;18456656;18483556;18488142;18498752;18550259;18573912;18593890;18598779;18621708;18644867;18697795;18721877;18729794;18772112;18776924;18812475;18819930;19047045;19088198;19148484;19177143;19304756;19364920;19389701;19460168;19479054;19487454;19493659;19524539;19536106;19571879;19590513;19608861;19653274;19690332;19717472;19851316;19928349;19940019;20028861;2010090;20360007;20405012;20460180;20661648;21118996;21245162;21325273;21471526;21486943;21654818;21670496;21726809;21741376;21903638;21965087;21993314;22186018;22190459;22201888;22304967;22371011;22474248;22617422;22647378;22941947;22982193;23001182;23151663;23159739;23190890;23207919;23256519;23416699;23632248;23904219;24019581;24029068;24171719;24267888;24291232;24379003;24584857;24706756;25142731;25187301;2524830;25248477;25595898;25645385;25693565;25784653;25921273;25936800;26154972;26375851;26486273;26590425;26694611;26783251;27128622;2721961;28178531;28394346;2841328;28904123;29234012;29295999;29431622;29493099;29557506;29636455;29671580;30385408;30515787;30804224;31840817;31844290;32157095;32183950;32448362;32502341;32636443;32860047;33054971;33100333;33744299;34140478;35580127;35580925;35583550;37530485;37553362;37770430;37961030;38113273;38169425;39107921;5338216;7813420;7862113;7958932;7987387;8306979;8336698;8343963;8365415;8695841;8756721;8757136;8846917;8921401;8955148;9073455;9118222;9119228;9177240;9199364;9353119;9389482;9417125;9440696;9488439;9490669;9560246;9676189;9710594;9727977;9751710;9758418;9760192;9783587;9819412;9843967;9887105;9973413", "class_list": "", "function": "A distinct isoform of lymphoid enhancer binding factor 1 (LEF1) epigenetically restricts EBV reactivation to maintain viral latency. Publication Status: Online-Only, [RefSeq, PubMed]; Carcinogenesis promotion in oral squamous cell carcinoma: KDM4A complex-mediated gene transcriptional suppression by LEF1. Publication Status: Online-Only, [RefSeq, PubMed]; Constant small-cell changes and variable LEF1 expression in DUSP22-rearranged primary cutaneous anaplastic large-cell lymphoma: Analysis of the repeated biopsies of three patients. Review article, [RefSeq, PubMed]; Downregulation of TCF7 and LEF1 is a key determinant of tumor-infiltrating regulatory T-cell function., [RefSeq, PubMed]; LEF1 isoforms regulate cellular senescence and aging., [RefSeq, PubMed]; Lacks the CTNNB1 interaction domain and may therefore be an antagonist for Wnt signaling., [UniProtKB, PubMed]; This gene encodes a transcription factor belonging to a family of proteins that share homology with the high mobility group protein-1. The protein encoded by this gene can bind to a functionally important site in the T-cell receptor-alpha enhancer, thereby conferring maximal enhancer activity. This transcription factor is involved in the Wnt signaling pathway, and it may function in hair cell differentiation and follicle morphogenesis. Mutations in this gene have been found in somatic sebaceous tumors. This gene has also been linked to other cancers, including androgen-independent prostate cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]., [RefSeq]; Transcription factor that binds DNA in a sequence-specific manner (PubMed:2010090). Participates in the Wnt signaling pathway (By similarity). Activates transcription of target genes in the presence of CTNNB1 and EP300 (By similarity). PIAG antagonizes both Wnt-dependent and Wnt-independent activation by LEF1 (By similarity). TLE1, TLE2, TLE3 and TLE4 repress transactivation mediated by LEF1 and CTNNB1 (PubMed:11266540). Regulates T-cell receptor alpha enhancer function (PubMed:19653274). Required for IL17A expressing gamma-delta T-cell maturation and development, via binding to regulator loci of BLK to modulate expression (By similarity). Acts as a positive regulator of odontoblast differentiation during mesenchymal tooth germ formation, expression is repressed during the bell stage by MSX1-mediated inhibition of CTNNB1 signaling (By similarity). May play a role in hair cell differentiation and follicle morphogenesis (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; Transcriptionally activates MYC and CCND1 expression and enhances proliferation of pancreatic tumor cells., [UniProtKB, PubMed]; Transcriptionally activates the fibronectin promoter, binds to and represses transcription from the E-cadherin promoter in a CTNNB1-independent manner, and is involved in reducing cellular aggregation and increasing cell migration of pancreatic cancer cells., [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": 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": 7, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 2, "disease_count": 8, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DG38;B7Z8E2;E9PDK3;Q3ZCU4;Q9HAZ0", "ec_number_list": "", "go_molecular_function": "GO:0008301 DNA binding, bending;GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;GO:0042826 histone deacetylase 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:0030854 positive regulation of granulocyte differentiation;GO:0045063 T-helper 1 cell differentiation;GO:1901331 positive regulation of odontoblast differentiation;GO:0030223 neutrophil differentiation;GO:0032714 negative regulation of interleukin-5 production", "synthesized_glycan_count": 0, "hit_score": 33.6, "record_id": "Q9UJU2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TCX1-1", "uniprot_id": "DC2L1_HUMAN", "mass": 39625.0, "length": 351, "protein_name": "Cytoplasmic dynein 2 light intermediate chain 1", "gene_name": "DYNC2LI1", "organism": "Human", "refseq_name": "cytoplasmic dynein 2 light intermediate chain 1 isoform 4", "refseq_ac": "NP_001180393", "gene_names_uniprotkb": "DYNC2LI1; CGI-60; D2LIC; LIC3", "gene_names_refseq": "CGI-60; D2LIC; DYNC2LI1; LIC3", "protein_names_uniprotkb": "Cytoplasmic dynein 2 light intermediate chain 1; Dynein 2 light intermediate chain", "protein_names_refseq": "cytoplasmic dynein 2 light intermediate chain 1 isoform 4", "tax_id": 9606, "disease": "asphyxiating thoracic dystrophy (Disease Ontology:DOID:0050592); short-rib thoracic dysplasia 15 with polydactyly (MONDO:MONDO:0014907)", "pathway": " (hsa:51626); (R-HSA-5620924)", "pathway_count": 2, "publication_count": 96, "publication_id_list": "10069812;11237011;11285270;11907264;12795688;15231740;15269286;15489852;15523559;15955805;16049494;16435301;16492809;16775004;16782012;17312020;17314406;17574030;18180368;18304522;18364699;18369462;18852297;19112494;19147001;19253336;19384852;19450523;19720863;19805633;20435895;20526327;20526328;20530210;20889716;21427764;21936775;22118932;22424782;22922713;22992454;23481700;23945166;23990561;24140113;24296415;24596149;24616010;25205765;25349261;25443296;26077881;26130459;26154972;26992070;28218747;28228285;28514659;28832583;28855257;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29742051;29786170;30315122;30379171;30410026;31451806;31844290;31848261;32157095;32357974;32387766;32502341;32897882;32938616;33030252;33141586;33298915;33936100;34509645;34997029;35051231;36010968;8516294;8522608;9114011;9585416;9585417;9852153", "class_list": "", "function": "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, facilitating the assembly of these organelles (PubMed:29742051). Involved in the regulation of ciliary length (PubMed:26077881, PubMed:26130459)., [UniProtKB, PubMed, PubMed, PubMed]; Combinations of deletion and missense variations of the dynein-2 DYNC2LI1 subunit found in skeletal ciliopathies cause ciliary defects. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that is a component of the dynein-2 microtubule motor protein complex that plays a role in the retrograde transport of cargo in primary cilia via the intraflagellar transport system. This gene is ubiquitously expressed and its protein, which localizes to the axoneme and Golgi apparatus, interacts directly with the cytoplasmic dynein 2 heavy chain 1 protein to form part of the multi-protein dynein-2 complex. Mutations in this gene produce defects in the dynein-2 complex which result in several types of ciliopathy including short-rib thoracic dysplasia 15 with polydactyly (SRTD15). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]., [RefSeq]; Whole-exome sequencing identified two novel mutations of DYNC2LI1 in fetal skeletal ciliopathy., [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": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8MVJ5;Q53F57;Q6PDB2;Q8IWA3;Q96B03;Q96J00;Q9Y370;Q9Y3S9", "ec_number_list": "", "go_molecular_function": "GO:0045504 dynein heavy chain binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005874 microtubule", "go_biological_process": "GO:0035735 intraciliary transport involved in cilium assembly;GO:1902017 regulation of cilium assembly;GO:0035721 intraciliary retrograde transport", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "Q8TCX1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IZD4-1", "uniprot_id": "DCP1B_HUMAN", "mass": 67723.0, "length": 617, "protein_name": "mRNA-decapping enzyme 1B", "gene_name": "DCP1B", "organism": "Human", "refseq_name": "mRNA-decapping enzyme 1B isoform 1", "refseq_ac": "NP_689853", "gene_names_uniprotkb": "DCP1B", "gene_names_refseq": "DCP1B; DCP1", "protein_names_uniprotkb": "mRNA-decapping enzyme 1B; 3.6.1.62", "protein_names_refseq": "DCP1 decapping enzyme homolog B; decapping enzyme hDcp1b; mRNA-decapping enzyme 1B isoform 1; mRNA-decapping enzyme 1B", "tax_id": 9606, "disease": "", "pathway": " (hsa:196513); (R-HSA-430039)", "pathway_count": 2, "publication_count": 70, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11283721;12218187;12417715;12486012;12515382;12923261;14749774;15067023;15085179;15231747;15475613;15592455;15711010;16051491;16141059;16246173;16299471;16964243;17245413;18039849;18452278;19061636;19239894;19279404;19413330;19651622;19664994;19690332;20058876;20068231;22223895;23186163;23301498;24275569;25576301;26154972;26992070;28657654;28904123;29242379;29351928;29557506;29605689;30315122;31154438;31844290;31848261;32157095;32387766;32488085;32897882;32938616;32983136;33298915;33717175;33912179;33936100;33968037;34019948;34357683;34932366;35051231;35138101;35254053;35580925;38665916;39302247;40307207", "class_list": "", "function": "May play a role in the degradation of mRNAs, both in normal mRNA turnover and in nonsense-mediated mRNA decay. May remove the 7-methyl guanine cap structure from mRNA molecules, yielding a 5'-phosphorylated mRNA fragment and 7m-GDP (By similarity)., [UniProtKB, UniProtKB]; This gene encodes a member of a family of proteins that function in removing the 5' cap from mRNAs, which is a step in regulated mRNA decay. This protein localizes to cytoplasmic foci which are the site of mRNA breakdown and turnover. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 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": 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": 10, "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": 6, "binding_glycan_count": 0, "secondary_ac_list": "B4DRD1;Q86XH9;Q96BP8;Q96MZ8", "ec_number_list": "3.6.1.59;3.6.1.52;3.6.1.62;3.6.1.10;3.6.1.61;3.6.4.13;3.6.1.64", "go_molecular_function": "GO:0003729 mRNA binding;GO:0008047 enzyme activator activity;GO:0140933 5'-(N(7)-methylguanosine 5'-triphospho)-[mRNA] hydrolase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0016020 membrane;GO:0000932 P-body;GO:0005737 cytoplasm", "go_biological_process": "GO:0000290 deadenylation-dependent decapping of nuclear-transcribed mRNA;GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;GO:0000288 nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay;GO:0031087 deadenylation-independent decapping of nuclear-transcribed mRNA", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q8IZD4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96AB3-1", "uniprot_id": "ISOC2_HUMAN", "mass": 22337.0, "length": 205, "protein_name": "Isochorismatase domain-containing protein 2", "gene_name": "ISOC2", "organism": "Human", "refseq_name": "isochorismatase domain-containing protein 2 isoform 1", "refseq_ac": "NP_001129673", "gene_names_uniprotkb": "ISOC2", "gene_names_refseq": "ISOC2", "protein_names_uniprotkb": "Isochorismatase domain-containing protein 2", "protein_names_refseq": "isochorismatase domain-containing protein 2 isoform 1; isochorismatase domain-containing protein 2, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:79763)", "pathway_count": 1, "publication_count": 68, "publication_id_list": "11237011;17658461;18446792;18691976;22424782;23481700;24275569;24715725;25418920;25576301;25645385;25880248;26154972;26811146;26929215;26992070;27600516;27846572;27862975;27920218;28228285;28832583;28855257;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29786170;30315122;31092671;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33936100;33968037;33981976;34171305;34211107;34357683;34405274;34509645;34932366;35051231;35318648;35580925;36010968;36215666;36241641;36284347", "class_list": "", "function": "ISOC2 is a novel functional protein, which is able to bind and co-localize with a tumor suppressor gene p16(INK4a)., [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": 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": "Q6ZN91;Q9H5G0", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0031648 protein destabilization", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q96AB3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IYD2-1", "uniprot_id": "KLD8A_HUMAN", "mass": 38859.0, "length": 350, "protein_name": "Kelch domain-containing protein 8A", "gene_name": "KLHDC8A", "organism": "Human", "refseq_name": "kelch domain-containing protein 8A", "refseq_ac": "NP_001258792", "gene_names_uniprotkb": "KLHDC8A", "gene_names_refseq": "KLHDC8A", "protein_names_uniprotkb": "Kelch domain-containing protein 8A; S-delta-E1; Substitute for delta-EGFR expression 1", "protein_names_refseq": "S-delta-E1; kelch domain-containing protein 8A; substitute for delta-EGFR expression 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:55220)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;20133782;29393594;29557506;30833945;31154438;31844290;34078123;34171305;36394953;37814858", "class_list": "", "function": "Superenhancer activation of KLHDC8A drives glioma ciliation and hedgehog signaling. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a kelch domain-containing protein which is upregulated in cancer. Upregulated expression of the encoded protein may provide an alternative pathway for tumors to maintain aggressiveness in the absence of epidermal growth factor receptor dependence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]., [RefSeq]; Upregulation of KLHDC8A provides an alternative pathway for xenograft tumors to maintain aggressiveness in the absence of EGFR dependence., [RefSeq, PubMed]; [miRNA-128-3p inhibits malignant behavior of glioma cells by downregulating KLHDC8A 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KU70;Q9NVG5", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q8IYD2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H2X6-1", "uniprot_id": "HIPK2_HUMAN", "mass": 130966.0, "length": 1198, "protein_name": "Homeodomain-interacting protein kinase 2", "gene_name": "HIPK2", "organism": "Human", "refseq_name": "homeodomain-interacting protein kinase 2 isoform 2", "refseq_ac": "NP_001106710", "gene_names_uniprotkb": "HIPK2", "gene_names_refseq": "HIPK2; PRO0593", "protein_names_uniprotkb": "Homeodomain-interacting protein kinase 2; 2.7.11.1; hHIPk2", "protein_names_refseq": "hHIPk2; homeodomain-interacting protein kinase 2 isoform 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:28996); (R-HSA-2032785); (R-HSA-3899300); (R-HSA-5578768); (R-HSA-6804756); (R-HSA-8939243); (R-HSA-9022692)", "pathway_count": 7, "publication_count": 225, "publication_id_list": "10.1101/2023.09.13.557529;10435622;10500146;10570149;10587520;10604467;10673500;10673501;10710310;10880574;10884347;11032752;11237011;11239457;11267674;11447225;11477070;11511362;11546806;11551930;11740489;11780126;11798164;11842083;11925430;12064478;12150977;12220523;12393879;12529333;12679040;12702766;12718889;12851404;12874272;12907596;12914926;14559895;14609633;14647468;14678985;14702041;15053879;15146390;15322089;15766567;15866171;15958389;15976810;16098147;16253240;16322561;16332960;16601678;1672777;16757475;16917507;17018294;17046689;17079232;17081986;17108107;17298944;17344846;17349958;17369852;17535915;17591690;17660514;17803295;17942393;17960875;17994015;18082607;18093972;18211901;18339323;18488044;18490454;18536714;18579750;18695000;18809579;18974774;19015637;19046997;19121998;19225110;19240082;19324876;19324877;19331822;19448668;19596686;19615980;19664994;19664995;19714248;19788416;19820693;19901323;19934029;19965871;19995069;20098713;20110263;20176810;20234185;20307497;20506188;20514025;20573984;20637728;20676127;20959462;20980392;21145359;21192925;21317932;21338522;2144260;21527249;21932419;22325351;22467880;22713328;22825850;23000554;23404503;23481700;23485397;23565059;23673342;23676219;23770565;23770587;24145406;24714562;24874608;25114211;25202235;25218447;25418920;25576301;25630557;25645385;25800734;25880248;25892735;25944899;26239616;26817948;26990595;26992070;27211601;27600516;27869121;27901482;27920218;28060750;28063628;28218747;28228285;28446606;28514659;28832583;28834231;28904123;29242379;29277937;29393594;29437277;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30379171;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31932432;31998317;32157095;32161166;32265295;32357974;32387766;32502341;32506827;32938616;32983136;33298915;33591310;33592498;33691108;33912179;33968037;33981976;34093574;34171305;34932366;35051231;35580925;36010968;36241641;37752292;38065380;38129937;38253038;38665916;38762192;38981023;39531497;9584153;9620804;9651244;9925639", "class_list": "", "function": "CircHIPK2 Contributes Cell Growth in Intestinal Epithelial of Colitis and Colorectal Cancer through Promoting TAZ Translation., [RefSeq, PubMed]; Circ_0008410 contributes to fibroblast-like synoviocytes dysfunction by regulating miR-149-5p/HIPK2 axis., [RefSeq, PubMed]; Circular RNA circHIPK2 inhibits colon cancer cells through miR-373-3p/RGMA axis., [RefSeq, PubMed]; Plasma circRNA HIPK2 as a putative biomarker for the diagnosis and prediction of therapeutic effects in major depressive disorder., [RefSeq, PubMed]; Serine/threonine-protein kinase involved in transcription regulation, p53/TP53-mediated cellular apoptosis and regulation of the cell cycle. Acts as a corepressor of several transcription factors, including SMAD1 and POU4F1/Brn3a and probably NK homeodomain transcription factors. Phosphorylates PDX1, ATF1, PML, p53/TP53, CREB1, CTBP1, CBX4, RUNX1, EP300, CTNNB1, HMGA1, ZBTB4 and DAZAP2. Inhibits cell growth and promotes apoptosis through the activation of p53/TP53 both at the transcription level and at the protein level (by phosphorylation and indirect acetylation). The phosphorylation of p53/TP53 may be mediated by a p53/TP53-HIPK2-AXIN1 complex. Involved in the response to hypoxia by acting as a transcriptional co-suppressor of HIF1A. Mediates transcriptional activation of TP73. In response to TGFB, cooperates with DAXX to activate JNK. Negative regulator through phosphorylation and subsequent proteasomal degradation of CTNNB1 and the antiapoptotic factor CTBP1. In the Wnt/beta-catenin signaling pathway acts as an intermediate kinase between MAP3K7/TAK1 and NLK to promote the proteasomal degradation of MYB. Phosphorylates CBX4 upon DNA damage and promotes its E3 SUMO-protein ligase activity. Activates CREB1 and ATF1 transcription factors by phosphorylation in response to genotoxic stress. In response to DNA damage, stabilizes PML by phosphorylation. PML, HIPK2 and FBXO3 may act synergically to activate p53/TP53-dependent transactivation. Promotes angiogenesis, and is involved in erythroid differentiation, especially during fetal liver erythropoiesis. Phosphorylation of RUNX1 and EP300 stimulates EP300 transcription regulation activity. Triggers ZBTB4 protein degradation in response to DNA damage. In response to DNA damage, phosphorylates DAZAP2 which localizes DAZAP2 to the nucleus, reduces interaction of DAZAP2 with HIPK2 and prevents DAZAP2-dependent ubiquitination of HIPK2 by E3 ubiquitin-protein ligase SIAH1 and subsequent proteasomal degradation (PubMed:33591310). Modulates HMGA1 DNA-binding affinity. In response to high glucose, triggers phosphorylation-mediated subnuclear localization shifting of PDX1. Involved in the regulation of eye size, lens formation and retinal lamination during late embryogenesis., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a conserved serine/threonine kinase that is a member of the homeodomain-interacting protein kinase family. The encoded protein interacts with homeodomain transcription factors and many other transcription factors such as p53, and can function as both a corepressor and a coactivator depending on the transcription factor and its subcellular localization. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]., [RefSeq]; ZC3H13 Accelerates Keloid Formation by Mediating N[6]-methyladenosine Modification of HIPK2., [RefSeq, PubMed]", "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": 0, "mined_o_glycosites": 3, "mined_c_glycosites": 0, "mined_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": 27, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 40, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q75MR7;Q8WWI4;Q9H2Y1", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.-;2.3.2.27;2.7.11.12;5.2.1.8;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;2.3.1.57;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0004713 protein tyrosine kinase activity;GO:0005524 ATP binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016604 nuclear body;GO:0016605 PML body", "go_biological_process": "GO:0060059 embryonic retina morphogenesis in camera-type eye;GO:0030578 PML body organization;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006468 protein phosphorylation", "synthesized_glycan_count": 0, "hit_score": 23.4, "record_id": "Q9H2X6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UNH7-1", "uniprot_id": "SNX6_HUMAN", "mass": 46649.0, "length": 406, "protein_name": "Sorting nexin-6", "gene_name": "SNX6", "organism": "Human", "refseq_name": "sorting nexin-6 isoform a", "refseq_ac": "NP_067072", "gene_names_uniprotkb": "SNX6", "gene_names_refseq": "MSTP010; SNX6; TFAF2", "protein_names_uniprotkb": "Sorting nexin-6; TRAF4-associated factor 2", "protein_names_refseq": "TRAF4-associated factor 2; sorting nexin-6 isoform a; tumor necrosis factor receptor-associated factor 4(TRAF4)-associated factor 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:58533)", "pathway_count": 1, "publication_count": 72, "publication_id_list": "11237011;11279102;11485546;11591366;17148574;18991276;19619496;19935774;20354142;20830743;22223895;23085988;23186163;23301498;23481700;24275569;24610942;24715725;25576301;25880248;25892735;26154972;26992070;27846572;27920218;28218747;28228285;28510447;28514659;28832583;28834231;29242379;29393594;29437277;29493099;29557506;29769354;29786170;30315122;30410026;30429286;31217245;31844290;32157095;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33298915;33592498;33912179;33936100;33968037;34019948;34171305;34357683;34510437;34561969;35008409;35051231;35251023;35561310;35580925;36010968;36284347;37938771;38665916;39073202;40914422", "class_list": "", "function": "Involved in several stages of intracellular trafficking., [UniProtKB, UniProtKB]; Involved in several stages of intracellular trafficking. Interacts with membranes phosphatidylinositol 3,4-bisphosphate and/or phosphatidylinositol 4,5-bisphosphate (Probable). Acts in part as component of the retromer membrane-deforming SNX-BAR subcomplex (PubMed:19935774). 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). Does not have in vitro vesicle-to-membrane remodeling activity (PubMed:23085988). Involved in retrograde endosome-to-TGN transport of lysosomal enzyme receptor IGF2R (PubMed:17148574). May function as link between transport vesicles and dynactin (Probable). Negatively regulates retrograde transport of BACE1 from the cell surface to the trans-Golgi network (PubMed:20354142). Involved in E-cadherin sorting and degradation; inhibits PIP5K1C isoform 3-mediated E-cadherin degradation (PubMed:24610942). In association with GIT1 involved in EGFR degradation. Promotes lysosomal degradation of CDKN1B (By similarity). May contribute to transcription regulation (Probable)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Sorting nexin 6 interacts with Cullin3 and regulates programmed death ligand 1 expression., [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. This protein associates with the long isoform of the leptin receptor, the transforming growth factor-beta family of receptor serine-threonine kinases, and with receptor tyrosine kinases for platelet-derived growth factor, insulin, and epidermal growth factor. This protein may form oligomeric complexes with family member proteins through interactions of both the PX domain and the coiled coil regions of the molecules. Translocation of this protein from the cytoplasm to the nucleus occurs after binding to proviral integration site 1 protein. This gene results in two transcripts encoding two distinct 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": 2, "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": "C0H5W9;Q9Y449", "ec_number_list": "", "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0035091 phosphatidylinositol binding;GO:0034452 dynactin binding;GO:0034713 type I transforming growth factor beta receptor binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005829 cytosol", "go_biological_process": "GO:0006886 intracellular protein transport;GO:1904646 cellular response to amyloid-beta;GO:0016241 regulation of macroautophagy;GO:0045892 negative regulation of DNA-templated transcription;GO:0043524 negative regulation of neuron apoptotic process", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q9UNH7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86UP6-1", "uniprot_id": "CUZD1_HUMAN", "mass": 68153.0, "length": 607, "protein_name": "CUB and zona pellucida-like domain-containing protein 1", "gene_name": "CUZD1", "organism": "Human", "refseq_name": "CUB and zona pellucida-like domain-containing protein 1 precursor", "refseq_ac": "NP_071317", "gene_names_uniprotkb": "CUZD1; PRO257", "gene_names_refseq": "CUZD1; ERG-1; ERG1; ITMAP1; UO-44", "protein_names_uniprotkb": "CUB and zona pellucida-like domain-containing protein 1; CUB and ZP domain-containing protein 1; Transmembrane protein UO-44", "protein_names_refseq": "CUB and ZP domain-containing protein 1; CUB and zona pellucida-like domain-containing protein 1 precursor; CUB and zona pellucida-like domain-containing protein 1; estrogen regulated gene 1; transmembrane protein UO-44", "tax_id": 9606, "disease": "", "pathway": " (hsa:50624)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;12975309;15184879;24715725;25968583;28746862;29321207;29557506;29786170;30524438;31154438;32157095;32983136;34932366;35589511;37858432", "class_list": "", "function": "Association analysis of CUZD1 variants in European chronic pancreatitis patients., [RefSeq, PubMed]; Data suggest that overexpression of CUZD1, regulator of growth factor signaling pathways controlled by PRLR and STAT5, promotes tumorigenesis in mammary epithelial cells. (CUZD1 = CUB and zona pellucida-like domain-containing protein-1; PRLR = prolactin receptor; STAT5 = signal transducer and activator of transcription-5), [RefSeq, PubMed]; Localized to zymogen granules, where it functions in trypsinogen activation (By similarity). May indirectly regulate cell motility, cell-cell and cell/extracellular matrix interactions (PubMed:15184879)., [UniProtKB, UniProtKB, PubMed]; This study describes the development of tools targeting CUZD1 protein, its tissue expression pattern and levels in several biological fluids. These new tools will facilitate future investigations aiming to delineate the role of CUZD1 in physiology and pathobiology., [RefSeq, PubMed]; Totals of 12.4% and 20.8% of Crohn's disease patients were positive for IgA/IgG type of anti-GP2 and anti-CUZD1, respectively. Positivity for anti-pancreatic autoantibodies predicted a faster progression towards complicated disease course., [RefSeq, PubMed]; Variants in the pancreatic CUB and zona pellucida-like domains 1 (CUZD1) gene in early-onset chronic pancreatitis - A possible new susceptibility gene., [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": "A8K080;B2RN93;D3DRE5;Q7Z660;Q7Z661;Q86SG1;Q86UP5;Q9HAR7", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space;GO:0009986 cell surface;GO:0016020 membrane;GO:0042589 zymogen granule membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0051301 cell division;GO:0032023 trypsinogen activation", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q86UP6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96S52-1", "uniprot_id": "PIGS_HUMAN", "mass": 61656.0, "length": 555, "protein_name": "GPI-anchor transamidase component PIGS", "gene_name": "PIGS", "organism": "Human", "refseq_name": "GPI-anchor transamidase component PIGS", "refseq_ac": "NP_149975", "gene_names_uniprotkb": "PIGS; PRO4316", "gene_names_refseq": "DEE95; GPIBD18; PIG-S; PIGS", "protein_names_uniprotkb": "GPI-anchor transamidase component PIGS; Phosphatidylinositol-glycan biosynthesis class S protein", "protein_names_refseq": "GPI transamidase component PIG-S; GPI transamidase subunit; GPI-anchor transamidase component PIGS; phosphatidylinositol glycan, class S; phosphatidylinositol-glycan biosynthesis class S protein", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 95 (Disease Ontology:DOID:0070382)", "pathway": " (hsa:94005); (R-HSA-162791)", "pathway_count": 2, "publication_count": 81, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11483512;12802054;12975309;16959974;24190977;24397554;24715725;25418920;26154972;26811146;26992070;27600516;27846572;27862975;27920218;28218747;28228285;28446606;28510447;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632711;29741879;29769354;29789417;30059200;30269814;30315122;30410026;30429286;30779550;31092671;31217245;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33410539;33592498;33912179;33936100;33968037;33981976;34171305;34357683;34576938;34846842;34932366;35051231;35165458;35254053;35318648;35551457;35580925;36010968;36241641;36284347;37074911;37684232;38665916;40596516;40914422;9356492", "class_list": "glycogene", "function": "Component of the glycosylphosphatidylinositol-anchor (GPI-anchor) transamidase (GPI-T) complex that catalyzes the formation of the linkage between a proprotein and a GPI-anchor and participates in GPI anchored protein biosynthesis., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a protein that is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. [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": 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": 1, "reported_phosphosites": 0, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 647, "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": "Q6UVX6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0042765 GPI-anchor transamidase complex", "go_biological_process": "GO:0006506 GPI anchor biosynthetic process;GO:0016255 attachment of GPI anchor to protein;GO:0180046 GPI anchored protein biosynthesis", "synthesized_glycan_count": 0, "hit_score": 9.3, "record_id": "Q96S52-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H2U1-1", "uniprot_id": "DHX36_HUMAN", "mass": 114760.0, "length": 1008, "protein_name": "ATP-dependent DNA/RNA helicase DHX36", "gene_name": "DHX36", "organism": "Human", "refseq_name": "ATP-dependent DNA/RNA helicase DHX36 isoform 2", "refseq_ac": "NP_001107869", "gene_names_uniprotkb": "DHX36; DDX36; KIAA1488; MLEL1; RHAU", "gene_names_refseq": "DDX36; DHX36; G4R1; MLEL1; RHAU", "protein_names_uniprotkb": "ATP-dependent DNA/RNA helicase DHX36; 3.6.4.12; 3.6.4.13; DEAD/H box polypeptide 36; DEAH-box protein 36; G4-resolvase-1; G4R1; MLE-like protein 1; RNA helicase associated with AU-rich element protein", "protein_names_refseq": "ATP-dependent DNA/RNA helicase DHX36 isoform 2; ATP-dependent DNA/RNA helicase DHX36; DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36; DEAD/H box polypeptide 36; DEAH (Asp-Glu-Ala-His) box polypeptide 36; DEAH box protein 36; G4 resolvase-1; MLE-like protein 1; RNA helicase associated with AU-rich element ARE; RNA helicase associated with AU-rich element protein; probable ATP-dependent RNA helicase DHX36", "tax_id": 9606, "disease": "candidiasis (Disease Ontology:DOID:1508)", "pathway": " (hsa:170506); (R-HSA-3134963)", "pathway_count": 2, "publication_count": 116, "publication_id_list": "10.1101/2023.09.13.557529;11073981;11237011;12198572;14731398;15144186;16150737;17932509;18279852;18669648;18842585;18854321;19608861;20043992;20472641;20696886;21149580;21586581;21846770;21993297;22238380;22898188;23186163;23481700;24151078;24366607;24369427;24714562;24715725;25418920;25505266;25576301;25579584;25645385;26030138;26154972;26195789;26489465;26649896;26728094;26811146;26992070;27600516;27846572;27920218;27940037;28228285;28446606;28510447;28649982;28832583;28834231;28904123;29242379;29317506;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30484775;30524438;30779550;31154438;31217245;31222486;31530632;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33968037;33981976;34019948;34087483;34171305;34174288;34185709;34211107;34357683;34405274;34509645;34561969;34783801;34862880;35051231;35132862;35561310;35580925;36010968;36241641;36284347;37632696;37938771;38339029;40914422", "class_list": "", "function": "DHX36 maintains genomic integrity by unwinding G-quadruplexes., [RefSeq, PubMed]; DHX36 protein is responsible for the majority of tetramolecular G4-DNA resolvase activity, [RefSeq, PubMed]; Differential Gene Expression following DHX36/G4R1 Knockout Is Associated with G-Quadruplex Content and Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; G-Quadruplexes and the DNA/RNA helicase DHX36 in health, disease, and aging. Review article, [RefSeq, PubMed]; G4-PROTAC: targeted degradation of a G-quadruplex binding protein. Publication Status: Online-Only, [RefSeq, PubMed]; Multifunctional ATP-dependent helicase that unwinds G-quadruplex (G4) structures (PubMed:16150737, PubMed:18854321, PubMed:20472641, PubMed:21586581). Plays a role in many biological processes such as genomic integrity, gene expression regulations and as a sensor to initiate antiviral responses (PubMed:14731398, PubMed:18279852, PubMed:21993297, PubMed:22238380, PubMed:25579584). G4 structures correspond to helical structures containing guanine tetrads (By similarity). Binds with high affinity to and unwinds G4 structures that are formed in nucleic acids (G4-DNA and G4-RNA) (PubMed:16150737, PubMed:18842585, PubMed:20472641, PubMed:21586581, PubMed:24369427, PubMed:26195789). Plays a role in genomic integrity (PubMed:22238380). Converts the G4-RNA structure present in telomerase RNA template component (TREC) into a double-stranded RNA to promote P1 helix formation that acts as a template boundary ensuring accurate reverse transcription (PubMed:20472641, PubMed:21149580, PubMed:21846770, PubMed:22238380, PubMed:24151078, PubMed:25579584). Plays a role in transcriptional regulation (PubMed:21586581, PubMed:21993297). Resolves G4-DNA structures in promoters of genes, such as YY1, KIT/c-kit and ALPL and positively regulates their expression (PubMed:21993297). Plays a role in post-transcriptional regulation (PubMed:27940037). Unwinds a G4-RNA structure located in the 3'-UTR polyadenylation site of the pre-mRNA TP53 and stimulates TP53 pre-mRNA 3'-end processing in response to ultraviolet (UV)-induced DNA damage (PubMed:27940037). Binds to the precursor-microRNA-134 (pre-miR-134) terminal loop and regulates its transport into the synapto-dendritic compartment (By similarity). Involved in the pre-miR-134-dependent inhibition of target gene expression and the control of dendritic spine size (By similarity). Plays a role in the regulation of cytoplasmic mRNA translation and mRNA stability (PubMed:24369427, PubMed:26489465). Binds to both G4-RNA structures and alternative non-quadruplex-forming sequence within the 3'-UTR of the PITX1 mRNA regulating negatively PITX1 protein expression (PubMed:24369427). Binds to both G4-RNA structure in the 5'-UTR and AU-rich elements (AREs) localized in the 3'-UTR of NKX2-5 mRNA to either stimulate protein translation or induce mRNA decay in an ELAVL1-dependent manner, respectively (PubMed:26489465). Also binds to ARE sequences present in several mRNAs mediating exosome-mediated 3'-5' mRNA degradation (PubMed:14731398, PubMed:18279852). Involved in cytoplasmic urokinase-type plasminogen activator (uPA) mRNA decay (PubMed:14731398). Component of a multi-helicase-TICAM1 complex that acts as a cytoplasmic sensor of viral double-stranded RNA (dsRNA) and plays a role in the activation of a cascade of antiviral responses including the induction of pro-inflammatory cytokines via the adapter molecule TICAM1 (By similarity). Required for early embryonic development and hematopoiesis. Involved in the regulation of cardioblast differentiation and proliferation during heart development. Involved in spermatogonia differentiation. May play a role in ossification (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The RNA helicase DHX36-G4R1 modulates C9orf72 GGGGCC hexanucleotide repeat-associated translation., [RefSeq, PubMed]; This gene is a member of the DEAH-box family of RNA-dependent NTPases which are named after the conserved amino acid sequence Asp-Glu-Ala-His in motif II. The protein encoded by this gene has been shown to enhance the deadenylation and decay of mRNAs with 3'-UTR AU-rich elements (ARE-mRNA). The protein has also been shown to resolve into single strands the highly stable tetramolecular DNA configuration (G4) that can form spontaneously in guanine-rich regions of DNA. 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": 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": 13, "reported_glycation": 0, "reported_snv": 24, "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": "B2RB00;Q70JU3;Q8IYE5;Q9P240", "ec_number_list": "5.6.2.4;3.6.1.-;3.6.4.-;3.6.4.13;3.6.4.6;3.6.1.5;2.7.7.7;2.7.7.49;3.6.4.10;3.1.3.1;3.9.1.1;4.2.99.18;5.6.1.6;5.6.2.3;3.6.4.12;3.4.21.53;5.6.2.5;3.1.-.-;3.6.5.-;7.6.2.1;2.3.2.27;7.2.2.-;5.6.2.-;2.3.2.-;2.7.11.1;3.6.1.15;3.1.4.-;3.6.-.-;3.4.24.-;3.1.13.1;5.6.2.6;3.4.-.-;2.7.4.3", "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0042826 histone deacetylase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0060261 positive regulation of transcription initiation by RNA polymerase II;GO:0032727 positive regulation of interferon-alpha production;GO:2000767 positive regulation of cytoplasmic translation;GO:0051891 positive regulation of cardioblast differentiation;GO:1904582 positive regulation of intracellular mRNA localization", "synthesized_glycan_count": 0, "hit_score": 12.1, "record_id": "Q9H2U1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P05771-1", "uniprot_id": "KPCB_HUMAN", "mass": 76869.0, "length": 671, "protein_name": "Protein kinase C beta type", "gene_name": "PRKCB", "organism": "Human", "refseq_name": "protein kinase C beta type isoform 2", "refseq_ac": "NP_002729", "gene_names_uniprotkb": "PRKCB; PKCB; PRKCB1", "gene_names_refseq": "PKC-beta; PKCB; PKCI(2); PKCbeta; PRKCB1; PRKCB2; PRKCB", "protein_names_uniprotkb": "Protein kinase C beta type; 2.7.11.13; PKC-B; PKC-beta", "protein_names_refseq": "PKC-B; protein kinase C beta type isoform 2; protein kinase C beta type; protein kinase C, beta 1 polypeptide", "tax_id": 9606, "disease": "silicosis (Disease Ontology:DOID:10325); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); dilated cardiomyopathy (Disease Ontology:DOID:12930); alcohol use disorder (Disease Ontology:DOID:1574); status epilepticus (Disease Ontology:DOID:1824); lung non-small cell carcinoma (Disease Ontology:DOID:3908); hyperglycemia (Disease Ontology:DOID:4195); congestive heart failure (Disease Ontology:DOID:6000); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:5579); (R-HSA-114516); (R-HSA-1169091); (R-HSA-416993); (R-HSA-418597); (R-HSA-4419969); (R-HSA-5099900); (R-HSA-5218921); (R-HSA-5668599); (R-HSA-76005); (R-HSA-8939246)", "pathway_count": 11, "publication_count": 193, "publication_id_list": "10066435;10072071;10194441;10230406;10321728;10400704;10421574;10455184;10514424;10593898;10802064;10828076;10856305;10954748;11090627;11145705;11237011;11313909;11387210;11460167;11598012;11600407;12056906;12070292;12118249;12120503;12391145;12417015;12665801;12716910;12776187;12840507;12881490;12958364;1347957;1400396;14530365;14532121;14561740;14695475;1556124;15591124;15824103;15879121;15889145;15951850;16055064;16103100;16301747;16329988;16356855;16507994;1660188;16636067;16762923;16778989;16861033;16923326;17115692;17158099;17199046;17227757;17344846;17420445;17428801;1756723;17583407;18006785;18088087;18162466;18347018;18434541;18438928;18462924;18577758;18694939;18981301;19020999;19066035;19176525;19369195;19372727;1939224;19494125;19494126;19651622;19909372;20166139;20186491;20228790;20439113;20449947;20807769;20813901;20876142;20947020;20956805;21081492;21239714;21413788;21850230;2188730;2188731;22134922;22808130;22986494;23186163;23289851;2344612;23481700;23875749;23980663;25313067;25418920;25877926;25982116;26154972;26811146;26929215;26992070;27558335;27846572;27920218;28228285;28502923;28514659;28832583;28904123;29242379;29393594;29493099;29557506;29632046;29632711;30315122;30429286;3129195;31844290;32157095;32265295;32350084;32357974;32387766;32502341;32938616;32983136;33717175;33912179;33968037;34357683;34509645;34562210;34958868;35027735;35051231;35251023;36040231;3658678;36623731;3666134;3677994;3755548;40246981;7479848;7479976;7559455;7575604;7595566;7628694;7809113;7831327;7862124;7880442;7937899;7957109;7961692;8034666;8089108;8327493;8387275;8463284;8670417;8749392;9135156;9218480;9315679;9721103;9804763;9814702;9859996;9889098;9914500;9990852", "class_list": "", "function": "Acts as an activator of ferroptosis by mediating phosphorylation and activation of ACSL4 (PubMed:35027735). Also stimulates ferroptosis propagation by catalyzing phosphorylation of FOXK1, thereby promoting LGALS13 secretion (PubMed:40246981)., [UniProtKB, PubMed, PubMed]; Calcium-activated, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase involved in various cellular processes such as regulation of the B-cell receptor (BCR) signalosome, oxidative stress-induced apoptosis, androgen receptor-dependent transcription regulation, insulin signaling and endothelial cells proliferation. Plays a key role in B-cell activation by regulating BCR-induced NF-kappa-B activation. Mediates the activation of the canonical NF-kappa-B pathway (NFKB1) by direct phosphorylation of CARD11/CARMA1 at 'Ser-559', 'Ser-644' and 'Ser-652'. Phosphorylation induces CARD11/CARMA1 association with lipid rafts and recruitment of the BCL10-MALT1 complex as well as MAP3K7/TAK1, which then activates IKK complex, resulting in nuclear translocation and activation of NFKB1. Plays a direct role in the negative feedback regulation of the BCR signaling, by down-modulating BTK function via direct phosphorylation of BTK at 'Ser-180', which results in the alteration of BTK plasma membrane localization and in turn inhibition of BTK activity (PubMed:11598012). Involved in apoptosis following oxidative damage: in case of oxidative conditions, specifically phosphorylates 'Ser-36' of isoform p66Shc of SHC1, leading to mitochondrial accumulation of p66Shc, where p66Shc acts as a reactive oxygen species producer. Acts as a coactivator of androgen receptor (AR)-dependent transcription, by being recruited to AR target genes and specifically mediating phosphorylation of 'Thr-6' of histone H3 (H3T6ph), a specific tag for epigenetic transcriptional activation that prevents demethylation of histone H3 'Lys-4' (H3K4me) by LSD1/KDM1A (PubMed:20228790). In insulin signaling, may function downstream of IRS1 in muscle cells and mediate insulin-dependent DNA synthesis through the RAF1-MAPK/ERK signaling cascade. Participates in the regulation of glucose transport in adipocytes by negatively modulating the insulin-stimulated translocation of the glucose transporter SLC2A4/GLUT4. Phosphorylates SLC2A1/GLUT1, promoting glucose uptake by SLC2A1/GLUT1 (PubMed:25982116). Under high glucose in pancreatic beta-cells, is probably involved in the inhibition of the insulin gene transcription, via regulation of MYC expression. In endothelial cells, activation of PRKCB induces increased phosphorylation of RB1, increased VEGFA-induced cell proliferation, and inhibits PI3K/AKT-dependent nitric oxide synthase (NOS3/eNOS) regulation by insulin, which causes endothelial dysfunction. Also involved in triglyceride homeostasis (By similarity). Phosphorylates ATF2 which promotes cooperation between ATF2 and JUN, activating transcription (PubMed:19176525). Phosphorylates KLHL3 in response to angiotensin II signaling, decreasing the interaction between KLHL3 and WNK4 (PubMed:25313067). Phosphorylates and activates LRRK1, which phosphorylates RAB proteins involved in intracellular trafficking (PubMed:36040231)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Family-Based Cohort Association Study of PRKCB1, CBLN1 and KCNMB4 Gene Polymorphisms and Autism in Polish Population., [RefSeq, PubMed]; PKC-isoform specific regulation of receptor desensitization and KCNQ1/KCNE1 K(+) channel activity by mutant alpha1B-adrenergic receptors., [RefSeq, PubMed]; PKCbetaII phosphorylates ACSL4 to amplify lipid peroxidation to induce ferroptosis., [RefSeq, PubMed]; Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This protein kinase has been reported to be involved in many different cellular functions, such as B cell activation, apoptosis induction, endothelial cell proliferation, and intestinal sugar absorption. Studies in mice also suggest that this kinase may also regulate neuronal functions and correlate fear-induced conflict behavior after stress. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]., [RefSeq]; The store-operated Ca[2+] channel Orai1alpha is required for agonist-evoked NF-kappaB activation by a mechanism dependent on PKCbeta2., [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": 22, "reported_mutagensis": 0, "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": "C5IFJ8;D3DWF5;O43744;P05127;Q15138;Q93060;Q9UE49;Q9UE50;Q9UEH8;Q9UJ30;Q9UJ33", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;5.2.1.8;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.91;2.7.1.150", "go_molecular_function": "GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0044305 calyx of Held;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0010829 negative regulation of D-glucose transmembrane transport;GO:0046627 negative regulation of insulin receptor signaling pathway;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006468 protein phosphorylation", "synthesized_glycan_count": 0, "hit_score": 19.4, "record_id": "P05771-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UKE5-1", "uniprot_id": "TNIK_HUMAN", "mass": 154943.0, "length": 1360, "protein_name": "TRAF2 and NCK-interacting protein kinase", "gene_name": "TNIK", "organism": "Human", "refseq_name": "TRAF2 and NCK-interacting protein kinase isoform 2", "refseq_ac": "NP_001155032", "gene_names_uniprotkb": "TNIK; KIAA0551", "gene_names_refseq": "MAP4K7; MRT54; TNIK", "protein_names_uniprotkb": "TRAF2 and NCK-interacting protein kinase; 2.7.11.1", "protein_names_refseq": "TRAF2 and NCK-interacting protein kinase isoform 2; TRAF2 and NCK-interacting protein kinase", "tax_id": 9606, "disease": "autosomal recessive intellectual developmental disorder 54 (Disease Ontology:DOID:0081216); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:23043); (R-HSA-2559580)", "pathway_count": 2, "publication_count": 165, "publication_id_list": "10.1101/2023.09.13.557529;10347217;10521462;10722742;10772813;10871633;11237011;11564866;12134156;12189133;12193592;12421820;12435631;12808055;13130464;14507994;14532106;15144186;15287722;15342639;15563468;15866172;16186825;16337592;16436515;16826196;17074750;17192257;17210787;17254968;17255097;17332741;17344414;17344846;17395714;17765224;17825402;17875933;18088087;18365017;18452278;18669648;18691976;18793328;18930710;19061864;19369195;19413330;19451217;19451218;19462008;19528227;19651622;19664994;19664995;19816403;20058876;20159449;20166139;21136679;21406692;21690388;21986495;22020331;22325352;22336108;22683641;22869377;23186163;24275569;24714562;24715725;25418920;25576301;25645385;25880248;26375851;26437443;26728094;26929215;26992070;27106596;27600516;27846572;27920218;28218747;28228285;28657654;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30410026;30429286;30524438;30779550;30901730;31154438;31217245;31530632;31844290;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33592498;33912179;33968037;33981976;34105348;34350475;34357683;34932366;35051231;35154160;35254053;35318648;35561310;35580925;35698907;36010968;36241641;37318197;37938771;7535770;7588633;7816143;7859739;8001816;8078588;8259215;8319905;8622669;8622688;8626550;8741839;8774846;8846784;8974401;9030721;9162092;9195981;9529249;9564042;9628874;9768359;9824166", "class_list": "", "function": "MiR-5590-3p inhibits the proliferation and invasion of ovarian cancer cells through mediating the Wnt/beta-catenin signaling pathway by targeting TNIK., [RefSeq, PubMed]; Serine/threonine kinase that acts as an essential activator of the Wnt signaling pathway. Recruited to promoters of Wnt target genes and required to activate their expression. May act by phosphorylating TCF4/TCF7L2. Appears to act upstream of the JUN N-terminal pathway. May play a role in the response to environmental stress. Part of a signaling complex composed of NEDD4, RAP2A and TNIK which regulates neuronal dendrite extension and arborization during development. More generally, it may play a role in cytoskeletal rearrangements and regulate cell spreading. Phosphorylates SMAD1 on Thr-322. 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, PubMed, PubMed, PubMed, PubMed, PubMed]; TNIK influence the effects of antipsychotics on Wnt/beta-catenin signaling pathway., [RefSeq, PubMed]; TNIK is a specific effector of Rap2 to regulate actin cytoskeleton, [RefSeq, PubMed]; The influence of TNIK gene polymorphisms on risperidone response in a Chinese Han population., [RefSeq, PubMed]; Wnt signaling plays important roles in carcinogenesis and embryonic development. The protein encoded by this gene is a serine/threonine kinase that functions as an activator of the Wnt signaling pathway. Mutations in this gene are associated with an autosomal recessive form of cognitive disability. Alternative splicing results in multiple transcript variants encoding different isoforms. [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": 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": 36, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 43, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A7E2A3;A8K4U1;D3DNQ6;O60298;Q8WUY7;Q9UKD8;Q9UKD9;Q9UKE0;Q9UKE1;Q9UKE2;Q9UKE3;Q9UKE4", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0035556 intracellular signal transduction;GO:0046330 positive regulation of JNK cascade;GO:0048814 regulation of dendrite morphogenesis;GO:0000165 MAPK cascade", "synthesized_glycan_count": 0, "hit_score": 17.1, "record_id": "Q9UKE5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H9L4-1", "uniprot_id": "KANL2_HUMAN", "mass": 55042.0, "length": 492, "protein_name": "KAT8 regulatory NSL complex subunit 2", "gene_name": "KANSL2", "organism": "Human", "refseq_name": "KAT8 regulatory NSL complex subunit 2", "refseq_ac": "NP_060292", "gene_names_uniprotkb": "KANSL2; C12orf41; NSL2", "gene_names_refseq": "C12orf41; KANSL2; NSL2", "protein_names_uniprotkb": "KAT8 regulatory NSL complex subunit 2; NSL complex protein NSL2; Non-specific lethal 2 homolog", "protein_names_refseq": "KAT8 regulatory NSL complex subunit 2; NSL complex protein NSL2; non-specific lethal 2 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:54934); (R-HSA-3214847); (R-HSA-9772755)", "pathway_count": 3, "publication_count": 117, "publication_id_list": "10786633;10821277;11237011;12393701;12482972;12670868;14636557;14992727;15199122;15302935;15313887;16227571;16239140;16387653;16543150;16829959;16878130;16892064;17355966;17500065;17612494;17671196;17925232;17998332;18381289;18452278;18598942;18623064;18829457;18829459;18838386;18838538;19103755;19124460;19187761;19187765;19556245;19651622;20018852;20068231;20575550;20716525;20961854;21106533;21124902;21131905;21135039;21220120;21406692;22266653;22327296;22652693;22665483;23186163;23508102;23995757;24244196;24275569;24368734;24680668;25561738;25576301;25593305;26324722;26886794;26992070;27406830;27563068;27698142;27760318;27846572;28063628;28182322;28218747;28398509;28834231;28904123;29138278;29242379;29393594;29437277;29493099;29632046;29897600;29937342;31154438;31400120;31485071;31530632;31544921;31844290;32001790;32157095;32387766;32502341;32983136;33298915;33392160;33592498;33657400;33968037;34012049;34019948;34561969;34932366;34933446;35033534;35051231;35190547;35191804;35439434;35580925;37217939;40307207;9427644;9558366;9880483", "class_list": "", "function": "KANSL2 and MBNL3 are regulators of pancreatic ductal adenocarcinoma invasion. Publication Status: Online-Only, [RefSeq, PubMed]; Non-catalytic component of the NSL histone acetyltransferase complex, a multiprotein complex that mediates histone H4 acetylation at 'Lys-5'- and 'Lys-8' (H4K5ac and H4K8ac) at transcription start sites and promotes transcription initiation. Required for NSL complex stability and for transcription of intraciliary transport genes in both ciliated and non-ciliated cells by regulating histone H4 acetylation at 'Lys-5'- and 'Lys-12' (H4K5ac and H4K12ac). This is necessary for cilium assembly in ciliated cells and for organization of the microtubule cytoskeleton in non-ciliated cells. Required within the NSL complex to maintain nuclear architecture stability by promoting KAT8-mediated acetylation of lamin LMNA., [UniProtKB, UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; Our findings indicate that KANSL2 acts to regulate the stem cell population in glioblastoma, [RefSeq, PubMed]; Ropivacaine represses the proliferation, invasion, and migration of glioblastoma via modulating the microRNA-21-5p/KAT8 regulatory NSL complex subunit 2 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": 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": 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": "Q8N3B5;Q96CV0;Q9NX51", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0000123 histone acetyltransferase complex", "go_biological_process": "GO:0045893 positive regulation of DNA-templated transcription;GO:0006325 chromatin organization", "synthesized_glycan_count": 0, "hit_score": 12.0, "record_id": "Q9H9L4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N5I4-1", "uniprot_id": "DHRSX_HUMAN", "mass": 36443.0, "length": 330, "protein_name": "Polyprenol dehydrogenase", "gene_name": "DHRSX", "organism": "Human", "refseq_name": "polyprenol dehydrogenase", "refseq_ac": "NP_660160", "gene_names_uniprotkb": "DHRSX; CXorf11; DHRS5X; PRO21433; SDR46C1; SDR7C6", "gene_names_refseq": "CDG1DD; CXorf11; DHRS5X; DHRS5Y; DHRSXY; DHRSX; DHRSY; SDR46C1; SDR7C6", "protein_names_uniprotkb": "Polyprenol dehydrogenase; 1.1.1.441; DHRSXY; Dehydrogenase/reductase SDR family member on chromosome X; Dolichal reductase", "protein_names_refseq": "dehydrogenase/reductase (SDR family) X chromosome; dehydrogenase/reductase (SDR family) X-linked; dehydrogenase/reductase (SDR family) Y-linked; dehydrogenase/reductase SDR family member on chromosome X; dolichal reductase; polyprenol dehydrogenase; short chain dehydrogenase/reductase family 46C member 1; short chain dehydrogenase/reductase family 7C member 6", "tax_id": 9606, "disease": "Leber congenital amaurosis (Disease Ontology:DOID:14791); congenital disorder of glycosylation, type 1DD (MONDO:MONDO:0975846)", "pathway": " (hsa:207063); (R-HSA-446199)", "pathway_count": 2, "publication_count": 49, "publication_id_list": "11237011;11731500;12213788;12975309;14652022;17273964;20637498;20700148;21295283;21572394;22240719;23481700;24715725;25076851;25576301;26154972;26992070;27600516;27846572;28218747;28228285;28514659;28832583;29242379;29393594;29437277;29493099;29508533;29557506;29632711;30315122;31217245;31844290;32157095;32350084;32502341;33043033;33141586;33298915;33936100;34171305;34211107;35051231;35580925;37938771;38821050;6243292;7374371;8626466", "class_list": "", "function": "Oxidoreductase that plays a key role in early steps of protein N-linked glycosylation by mediating two non-consecutive steps in dolichol biosynthesis (PubMed:38821050). Acts both as a NAD(+)-dependent dehydrogenase and as a NADPH-dependent reductase during the conversion of polyprenol into dolichol (PubMed:38821050). First catalyzes the NAD(+)-dependent dehydrogenation of polyprenol into polyprenal; polyprenal is then reduced into dolichal by SRD5A3 (PubMed:38821050). It then catalyzes the NADPH-dependent reduction of dolichal into dolichol (PubMed:38821050). May also acts as a positive regulator of starvation-induced autophagy (PubMed:25076851)., [UniProtKB, PubMed, PubMed]; These results demonstrate that DHRSX is a novel non-classical secretory protein involved in the positive regulation of starvation induced autophagy and provide a new avenue for research on this protein family and autophagy regulation 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": 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": "Q6UWC7;Q8WUS4;Q96GR8;Q9NTF6", "ec_number_list": "1.1.1.441", "go_molecular_function": "GO:0008106 alcohol dehydrogenase (NADP+) activity;GO:0160196 polyprenol dehydrogenase (NAD+) activity;GO:0160197 dolichal reductase (NADPH) activity;GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005811 lipid droplet;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0010508 positive regulation of autophagy;GO:0043048 dolichyl monophosphate biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q8N5I4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NQB0-1", "uniprot_id": "TF7L2_HUMAN", "mass": 67919.0, "length": 619, "protein_name": "Transcription factor 7-like 2", "gene_name": "TCF7L2", "organism": "Human", "refseq_name": "transcription factor 7-like 2 isoform 1", "refseq_ac": "NP_001139746", "gene_names_uniprotkb": "TCF7L2; TCF4", "gene_names_refseq": "TCF-4; TCF4; TCF7L2", "protein_names_uniprotkb": "Transcription factor 7-like 2; HMG box transcription factor 4; T-cell factor 4; T-cell-specific transcription factor 4; TCF-4; hTCF-4", "protein_names_refseq": "HMG box transcription factor 4; T-cell factor 4; T-cell-specific transcription factor 4; hTCF-4; transcription factor 7-like 2 (T-cell specific, HMG-box); transcription factor 7-like 2 isoform 1", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); gestational diabetes (Disease Ontology:DOID:11714); breast cancer (Disease Ontology:DOID:1612); pancreatic cancer (Disease Ontology:DOID:1793); colorectal cancer (Disease Ontology:DOID:9256); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:6934); (R-HSA-201722); (R-HSA-3769402); (R-HSA-381771); (R-HSA-4086398); (R-HSA-4411364); (R-HSA-4641265); (R-HSA-5339700); (R-HSA-8853884); (R-HSA-8951430); (R-HSA-9823730); (R-HSA-9825892); (R-HSA-9909649)", "pathway_count": 13, "publication_count": 264, "publication_id_list": "10080941;10201372;10318916;10375506;10380924;10391246;10391247;10395542;10485457;10485845;10488343;10549281;10559189;10588714;10597289;10769018;10770922;10775268;10777564;10831834;10858654;10898789;10919662;10921920;10944533;11015615;11030334;11050151;11062467;11080158;11136974;11237011;11266540;11290324;11532957;11563835;11564718;11691915;11713475;11713476;11809808;11809809;11934263;11940574;11955446;11973335;11978683;11988739;12015605;12086864;12163411;12408824;12408825;12408868;12446687;12471263;12482967;12540594;12556497;12651102;12711682;12712206;12727872;12729560;12810581;12975316;14600025;14685266;14695187;14704854;14719035;14719797;14977528;1499644;15060161;15121853;15126524;15132997;15187083;15294866;15327769;15494017;15525529;15545263;15584901;15611108;15619630;15768032;15829968;16005293;16169192;16219666;16415884;16434966;16510874;16547505;16630820;16714285;16728727;16756492;16880514;16920709;16959974;17052462;17065399;17204604;17218525;17377531;17412698;17425782;17426020;17428831;17458864;17681422;17684012;17698607;17873903;17875931;17923689;18160704;18347063;18378692;18404694;18456304;18456656;18488142;18498752;18519800;18573912;18593890;18598779;18621708;18721877;18772112;18819930;19001044;19047045;19088198;19148484;19177143;19304756;19364920;19443654;19460168;19487454;19493659;19536106;19564924;19571879;19590513;19602480;19816403;19851316;19928349;19940019;20028861;20360007;20405012;20530691;21118996;21245162;21256126;21325273;21454679;21630377;21654818;21670496;21726809;21855631;21903638;22155184;22186018;22190459;22201888;22258766;22304967;22617422;22647378;22699938;22941947;22982193;23151663;23256519;23416699;23632248;23904219;24171719;24291232;24390345;24589551;24706756;25142731;25469497;25576301;25843708;26015544;26486273;26590425;27600516;27705785;2841328;28829046;29061846;29437277;29557506;29739711;30192525;30315122;30385408;30629940;30779550;30828317;31154438;31848261;32157095;32183950;32488085;32795420;32860047;32897882;32938616;32983136;33592498;33717175;33968037;33981976;34561969;35051231;35318648;35561310;35580925;36241641;36284347;3841689;38612849;38665916;38869455;3900195;39060928;39243204;39894887;7883856;7987387;8100523;8343963;8365415;8756721;8757136;8798518;8955148;9065401;9073455;9118222;9389482;9488439;9490669;9710594;9727977;9751710;9783587;9819412;9843967;9887105;9916915", "class_list": "", "function": "Circ_0004674 regulation of glycolysis and proliferation mechanism of osteosarcoma through miR-140-3p/TCF4 pathway., [RefSeq, PubMed]; Participates in the Wnt signaling pathway and modulates MYC expression by binding to its promoter in a sequence-specific manner. Acts as a repressor in the absence of CTNNB1, and as activator in its presence. Activates transcription from promoters with several copies of the Tcf motif 5'-CCTTTGATC-3' in the presence of CTNNB1. TLE1, TLE2, TLE3 and TLE4 repress transactivation mediated by TCF7L2/TCF4 and CTNNB1. Expression of dominant-negative mutants results in cell-cycle arrest in G1. Necessary for the maintenance of the epithelial stem-cell compartment of the small intestine., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; TCF7L2 Polymorphism rs7903146 (C/T) and Gestational Diabetes Influence on Obstetric Outcome: A Romanian Case-Control Study. Publication Status: Online-Only, [RefSeq, PubMed]; The Longitudinal Effect of Diabetes-Associated Variation in TCF7L2 on Islet Function in Humans., [RefSeq, PubMed]; This gene encodes a high mobility group (HMG) box-containing transcription factor that plays a key role in the Wnt signaling pathway. The protein has been implicated in blood glucose homeostasis. Genetic variants of this gene are associated with increased risk of type 2 diabetes. Several transcript variants encoding multiple different isoforms have been found for this gene.[provided by RefSeq, Oct 2010]., [RefSeq]; Transcription factor 7 like 2 promotes metastasis in hepatocellular carcinoma via NEDD9-mediated activation of AKT/mTOR 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": 5, "reported_mutagensis": 15, "reported_glycation": 0, "reported_snv": 19, "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": "B4DRJ8;B9X074;C6ZRJ8;C6ZRK0;E2GH14;E2GH19;E2GH20;E2GH24;E2GH25;E9PFH9;F8W742;F8W7T5;O00185;Q9NQB1;Q9NQB2;Q9NQB3;Q9NQB4;Q9NQB5;Q9NQB6;Q9NQB7;Q9ULC2", "ec_number_list": "", "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0019901 protein kinase binding;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:0016604 nuclear body;GO:0016605 PML body;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:0032024 positive regulation of insulin secretion;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 26.7, "record_id": "Q9NQB0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P32780-1", "uniprot_id": "TF2H1_HUMAN", "mass": 62032.0, "length": 548, "protein_name": "General transcription factor IIH subunit 1", "gene_name": "GTF2H1", "organism": "Human", "refseq_name": "general transcription factor IIH subunit 1", "refseq_ac": "NP_001135779", "gene_names_uniprotkb": "GTF2H1; BTF2", "gene_names_refseq": "BTF2; GTF2H1; P62; TFB1; TFIIH", "protein_names_uniprotkb": "General transcription factor IIH subunit 1; BTF2 p62; Basic transcription factor 2 62 kDa subunit; General transcription factor IIH polypeptide 1; TFIIH basal transcription factor complex p62 subunit", "protein_names_refseq": "BTF2 p62; TFIIH basal transcription factor complex p62 subunit; basic transcription factor 2 62 kDa subunit; epididymis secretory sperm binding protein; general transcription factor IIH polypeptide 1; general transcription factor IIH subunit 1; general transcription factor IIH, polypeptide 1, 62kDa", "tax_id": 9606, "disease": "", "pathway": " (hsa:2965); (R-HSA-112382); (R-HSA-113418); (R-HSA-167152); (R-HSA-167158); (R-HSA-167160); (R-HSA-167161); (R-HSA-167162); (R-HSA-167172); (R-HSA-167200); (R-HSA-167246); (R-HSA-427413); (R-HSA-5696395); (R-HSA-5696400); (R-HSA-674695); (R-HSA-6781823); (R-HSA-6781827); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-6796648); (R-HSA-72086); (R-HSA-73762); (R-HSA-73772); (R-HSA-73776); (R-HSA-73779); (R-HSA-73863); (R-HSA-75953); (R-HSA-75955); (R-HSA-76042); (R-HSA-77075)", "pathway_count": 30, "publication_count": 210, "publication_id_list": "10.1101/2023.09.13.557529;10024882;10082553;10199401;10471499;10526214;10723029;10734143;10757782;10866664;10882074;10913176;10916156;10944529;10984493;11007478;11141066;11237011;11250901;11278856;11313498;11313499;11350971;11433015;11486021;11511374;11739720;11784853;11859374;11884399;11904382;11971958;11988847;12080057;12208738;12370301;12393749;12646563;12653964;12660172;12676794;12732143;1310361;14517266;14610093;14701750;14969726;15220921;1529339;1547496;15489290;15590680;15781865;15989964;16030353;16246722;16491090;16751180;17000769;17234882;17290000;17318177;17355984;17466625;17466626;17499042;17948053;17981804;18079701;18157150;18614043;19056823;19279666;1939271;19413330;19661379;19664995;19713942;19729311;19838300;19940136;19941815;19941824;19952111;20159561;20227374;20368362;20541997;20876134;21070792;21282463;22012619;22081108;22118460;22466610;22466611;22466612;22805593;22902626;22982363;22988298;23038248;23045548;23186163;23301498;23352696;23538671;23751493;23906714;23973375;24127601;24354960;24402227;2449431;24554720;24662513;24714562;25154395;25429106;25435140;25538220;25561469;25712099;25916849;25918396;26042670;26151477;26659056;26992070;27418187;27418309;2805069;28228285;28297668;28510447;28832583;28834231;28904123;29242379;29493099;29557506;29632046;30315122;30379171;30429286;30484775;30524438;30833945;31154438;31844290;32157095;32355176;32387766;32897882;32938616;33717175;33902107;33912179;33936100;33968037;34087483;34171305;34268577;34932366;35051231;35318648;35580925;36284347;36384536;37442507;37938771;39366381;7151173;7491500;7559382;7597036;7601352;7660122;7660129;7660130;7700386;7801123;7853496;8078911;8156590;8330735;8370526;8465201;8490964;8692841;8876179;8946909;9063748;9130708;9256425;9326587;9353262;9405375;9450929;9489704;9512541;9582279;9699634;9716411;9765293;9771713;9790902;9852112;9857195;9875289", "class_list": "", "function": "Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Impact of GTF2H1 and RAD54L2 polymorphisms on the risk of lung cancer in the Chinese Han population. Publication Status: Online-Only, [RefSeq, PubMed]; Structural characterization of transcription-coupled repair protein UVSSA and its interaction with TFIIH protein., [RefSeq, PubMed]; Three human RNA polymerases interact with TFIIH via a common RPB6 subunit., [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": 3, "reported_mutagensis": 0, "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": "B3KXE0;D3DQY2;Q6I9Y7;Q9H5K5;Q9NQD9", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding;GO:0046966 nuclear thyroid hormone receptor binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005675 transcription factor TFIIH holo complex;GO:0000439 transcription factor TFIIH core complex", "go_biological_process": "GO:0006360 transcription by RNA polymerase I;GO:0006281 DNA repair;GO:0045893 positive regulation of DNA-templated transcription;GO:0009755 hormone-mediated signaling pathway;GO:0006366 transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 21.5, "record_id": "P32780-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NEM2-1", "uniprot_id": "SHCBP_HUMAN", "mass": 75690.0, "length": 672, "protein_name": "SHC SH2 domain-binding protein 1", "gene_name": "SHCBP1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "SHCBP1", "gene_names_refseq": "", "protein_names_uniprotkb": "SHC SH2 domain-binding protein 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:79801)", "pathway_count": 1, "publication_count": 61, "publication_id_list": "11237011;16964243;17322306;18669648;18767875;19413330;19690332;19691289;20068231;21187330;22223895;23186163;23481700;23704356;24714562;25418920;25576301;25880248;25892735;26154972;26728094;26929215;26992070;27846572;28904123;29437277;29493099;30484775;31217245;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33968037;33981976;34087483;34171305;34357683;34405274;34509645;34561969;34932366;35051231;35580925;36010968;36215666;36241641;36284347;40914422", "class_list": "", "function": "May play a role in signaling pathways governing cellular proliferation, cell growth and differentiation. May be a component of a novel signaling pathway downstream of Shc. Acts as a positive regulator of FGF signaling in neural progenitor cells., [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": 15, "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": "Q96N60;Q9BVS0;Q9H6P6", "ec_number_list": "", "go_molecular_function": "GO:0042169 SH2 domain binding", "go_cellular_component": "GO:0030496 midbody;GO:0072686 mitotic spindle", "go_biological_process": "GO:0008543 fibroblast growth factor receptor signaling pathway;GO:2000177 regulation of neural precursor cell proliferation", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q8NEM2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96AC1-1", "uniprot_id": "FERM2_HUMAN", "mass": 77861.0, "length": 680, "protein_name": "Fermitin family homolog 2", "gene_name": "FERMT2", "organism": "Human", "refseq_name": "fermitin family homolog 2 isoform 2", "refseq_ac": "NP_001128471", "gene_names_uniprotkb": "FERMT2; KIND2; MIG2; PLEKHC1", "gene_names_refseq": "FERMT2; KIND2; MIG2; PLEKHC1; UNC112B; UNC112; mig-2", "protein_names_uniprotkb": "Fermitin family homolog 2; Kindlin-2; MIG-2; Mitogen-inducible gene 2 protein; PH domain-containing family C member 1; Pleckstrin homology domain-containing family C member 1", "protein_names_refseq": "PH domain-containing family C member 1; fermitin family homolog 2 isoform 2; fermitin family homolog 2; fermitin family member 2; kindlin 2; mitogen inducible gene 2 protein; mitogen inducible gene-2; pleckstrin homology domain containing, family C (with FERM domain) member 1; pleckstrin homology domain containing, family C member 1", "tax_id": 9606, "disease": "Kindler syndrome (Disease Ontology:DOID:0060472); acute myeloid leukemia (Disease Ontology:DOID:9119)", "pathway": " (hsa:10979); (R-HSA-446353); (R-HSA-9013149); (R-HSA-9013423)", "pathway_count": 4, "publication_count": 306, "publication_id_list": "10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10618392;10699171;10699464;10873802;10958683;11007481;11058585;11085924;11149925;11237011;11373293;11396949;11431473;11432776;11584276;11672528;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11956649;11961559;12071859;12093360;12096337;12195014;12221096;12351724;12432077;12531887;12546821;12547822;12650940;12665586;12679033;12697302;12857875;12877655;12923183;14512443;14514689;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;16473593;16492808;16507994;16519628;16531412;16636067;16702231;16762923;16777452;16777849;16862148;16896804;16914516;16968698;17077126;17081983;17145773;17196961;17214551;17244649;17583407;17599059;17702745;17765681;17804252;17976533;18006505;18045877;18218625;18249095;18347018;18396277;18426980;18452278;18458155;18653540;18669648;18691976;18697831;18838382;19269969;19413330;19494238;19534724;19605563;19651622;19664994;19673492;19690332;19713215;19934221;20068231;20400958;20460433;20679435;20810653;21148482;21325030;21406692;21542010;21565175;21613211;21730051;21768292;21865595;21989057;22004470;22030399;22078565;22096251;22298643;22407364;22475431;22608513;22653426;22699938;22734669;22970203;23186163;23209303;23255595;23288169;23434736;23555621;23572525;23707487;23718289;23940355;24086303;24259668;24275569;24335996;24352656;24859002;24933155;24960694;25024229;25211221;25428919;25576301;25646088;25704760;25721503;25795300;25862245;25892735;26037143;26129894;26154972;26375851;26529257;26628301;26887924;26992070;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27806292;27920218;28114311;28196833;28228285;28356423;28510447;28514659;28834231;29089502;29331515;29358323;29382922;29393594;29485866;29557506;29786170;30484775;30779550;30833945;30853411;31020640;31154438;31217245;31222486;31844290;31848261;31871319;31937595;32104508;32157095;32161166;32203420;32350084;32488085;32502341;32938616;32983136;33141586;33214551;33592498;33633747;33968037;34019948;34087483;34171305;34725712;35051231;35138101;35318648;35494241;35580925;36010968;36215666;36241641;36284347;36480537;37142218;37217939;37357349;37480504;37938771;38084837;38665916;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8175911;8537347;8543060;8643598;8645157;8662891;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9113980;9252344;9305890;9438849;9490638;9497316;9582072;9659915;9670022;9792683;9822598;9843499;9988689", "class_list": "", "function": "Alzheimer's risk factor FERMT2 promotes the progression of colorectal carcinoma via Wnt/beta-catenin signaling pathway and contributes to the negative correlation between Alzheimer and cancer. Publication Status: Online-Only, [RefSeq, PubMed]; FERMT2 upregulation in CAFs enhances EMT of OSCC and M2 macrophage polarization., [RefSeq, PubMed]; Kindlin-2 controls angiogenesis through modulating Notch1 signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Kindlin-2 regulates colonic cancer stem-like cells survival and self-renewal via Wnt/beta-catenin mediated pathway., [RefSeq, PubMed]; Parkin ubiquitination of Kindlin-2 enables mitochondria-associated metastasis suppression., [RefSeq, PubMed]; Scaffolding protein that enhances integrin activation mediated by TLN1 and/or TLN2, but activates integrins only weakly by itself. Binds to membranes enriched in phosphoinositides. Enhances integrin-mediated cell adhesion onto the extracellular matrix and cell spreading; this requires both its ability to interact with integrins and with phospholipid membranes. Required for the assembly of focal adhesions. Participates in the connection between extracellular matrix adhesion sites and the actin cytoskeleton and also in the orchestration of actin assembly and cell shape modulation. Recruits FBLIM1 to focal adhesions. Plays a role in the TGFB1 and integrin signaling pathways. Stabilizes active CTNNB1 and plays a role in the regulation of transcription mediated by CTNNB1 and TCF7L2/TCF4 and in Wnt signaling., [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": 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": 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": "B5TJY2;Q14840;Q86TY7", "ec_number_list": "", "go_molecular_function": "GO:0003779 actin binding;GO:0005178 integrin binding;GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding;GO:0019901 protein kinase binding;GO:0051015 actin filament binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007229 integrin-mediated signaling pathway;GO:0030335 positive regulation of cell migration;GO:0051897 positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0070374 positive regulation of ERK1 and ERK2 cascade", "synthesized_glycan_count": 0, "hit_score": 30.9, "record_id": "Q96AC1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P03952-1", "uniprot_id": "KLKB1_HUMAN", "mass": 71343.0, "length": 638, "protein_name": "Plasma kallikrein", "gene_name": "KLKB1", "organism": "Human", "refseq_name": "plasma kallikrein isoform 1 preproprotein", "refseq_ac": "NP_000883", "gene_names_uniprotkb": "KLKB1; KLK3", "gene_names_refseq": "KLK3; KLKB1; PKKD; PKK; PPK", "protein_names_uniprotkb": "Plasma kallikrein; 3.4.21.34; Fletcher factor; Kininogenin; PKK; Plasma prekallikrein", "protein_names_refseq": "kallikrein B, plasma (Fletcher factor) 1; kininogenin; plasma kallikrein isoform 1 preproprotein; plasma kallikrein; plasma prekallikrein", "tax_id": 9606, "disease": "inflammatory bowel disease (Disease Ontology:DOID:0050589); lupus nephritis (Disease Ontology:DOID:0080162); hypertension (Disease Ontology:DOID:10763); glomerulonephritis (Disease Ontology:DOID:2921); liver cirrhosis (Disease Ontology:DOID:5082); systemic lupus erythematosus (Disease Ontology:DOID:9074); inherited prekallikrein deficiency (MONDO:MONDO:0012901)", "pathway": " (hsa:3818); (R-HSA-1592389); (R-HSA-9657688); (R-HSA-9657689); (R-HSA-9855719); (R-HSA-9935598); (R-HSA-9970672)", "pathway_count": 7, "publication_count": 118, "publication_id_list": "10.1021/acs.analchem.6b02887;1066663;11031105;11204562;11237011;11830519;11830581;11986212;12754519;12773530;12944405;1311314;1371271;1390635;1451784;14635117;14652634;14691562;1480033;16335952;17598838;1783204;19159218;1998666;1998667;2026621;21304106;21544310;2159879;21683246;2169257;2176865;2269296;2296585;23090970;2365061;2383557;24279413;24552232;2546891;2551898;2557753;2563376;2578463;2579948;26248961;27130860;28035807;2844223;29343682;29391424;29519898;29671580;29741879;29753808;29920929;30394658;30398465;3058116;30591525;3099750;33397811;33732248;34532976;34725484;3484703;34847617;3521732;36100402;36756125;36812656;37074911;3756141;38294975;3877053;3886654;4054110;4178758;4216367;4703226;500690;588558;6203908;6263256;6604055;7391081;7669817;7746327;7780967;7814636;7826345;7852321;7890645;7896811;7981201;8015608;8194591;8195709;8314771;8529136;8530478;8576151;8621565;8645182;8663255;8710908;874082;8755917;8798678;8804434;893417;9226169;9261109;9346290;9422744;9427705;9578462;9632662", "class_list": "", "function": "CRISPR-Cas9 In Vivo Gene Editing of KLKB1 for Hereditary Angioedema., [RefSeq, PubMed]; KLKB1 and CLSTN2 are associated with HDL-mediated cholesterol efflux capacity in a genome-wide association study., [RefSeq, PubMed]; Kallikrein augments the anticoagulant function of the protein C system in thrombin generation., [RefSeq, PubMed]; Participates in the surface-dependent activation of blood coagulation. Activates, in a reciprocal reaction, coagulation factor XII/F12 after binding to negatively charged surfaces. Releases bradykinin from HMW kininogen and may also play a role in the renin-angiotensin system by converting prorenin into renin., [UniProtKB]; This gene encodes a glycoprotein that participates in the surface-dependent activation of blood coagulation, fibrinolysis, kinin generation and inflammation. The encoded preproprotein present in plasma as a non-covalent complex with high molecular weight kininogen undergoes proteolytic processing mediated by activated coagulation factor XII to generate a disulfide-linked, heterodimeric serine protease comprised of heavy and light chains. Certain mutations in this gene cause prekallikrein deficiency. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]., [RefSeq]; [Matrix metalloproteinase 14 and plasma kallikrein 1 may be potential biomarkers in the diagnosis and treatment of sepsis: a proteomics and bioinformatics analysis]., [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": 6, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 8, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 8, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 8, "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": 28, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 49, "disease_count": 7, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "A6NH96;B2R8H9;Q17RE8;Q17RE9;Q4W5C3", "ec_number_list": "3.4.21.22;3.4.21.38;3.4.21.34;3.4.24.7;3.4.21.4;3.4.21.37;3.4.24.17;3.4.21.20;3.4.21.1;3.4.21.39;3.4.16.2;3.4.21.59", "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006508 proteolysis;GO:0007596 blood coagulation;GO:0042730 fibrinolysis;GO:0031639 plasminogen activation;GO:0031638 zymogen activation", "synthesized_glycan_count": 0, "hit_score": 17.8, "record_id": "P03952-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y5Q8-1", "uniprot_id": "TF3C5_HUMAN", "mass": 59571.0, "length": 519, "protein_name": "General transcription factor 3C polypeptide 5", "gene_name": "GTF3C5", "organism": "Human", "refseq_name": "general transcription factor 3C polypeptide 5 isoform 3", "refseq_ac": "NP_001273638", "gene_names_uniprotkb": "GTF3C5; CDABP0017", "gene_names_refseq": "GTF3C5; TFIIIC63; TFIIICepsilon; TFiiiC2-63", "protein_names_uniprotkb": "General transcription factor 3C polypeptide 5; TF3C-epsilon; TFIIIC 63 kDa subunit; TFIIIC63; Transcription factor IIIC 63 kDa subunit; Transcription factor IIIC subunit epsilon", "protein_names_refseq": "TF3C-epsilon; TFIIIC 63 kDa subunit; general transcription factor 3C polypeptide 5 isoform 3; general transcription factor 3C polypeptide 5; general transcription factor IIIC, polypeptide 5, 63kDa; transcription factor IIIC 63 kDa subunit; transcription factor IIIC subunit epsilon; transcription factor IIIC, 63 kD", "tax_id": 9606, "disease": "", "pathway": " (hsa:9328); (R-HSA-749476); (R-HSA-76061); (R-HSA-76066)", "pathway_count": 4, "publication_count": 73, "publication_id_list": "10373544;11237011;11419933;12381659;17409385;1946469;22424782;23481700;2404611;24714562;26154972;26375851;26728094;26992070;27543614;27600516;27920218;28218747;28228285;28832583;28834231;28860189;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30410026;30429286;30524438;31217245;31844290;32157095;32387766;32502341;32897882;32938616;32983136;33141586;33392160;33537174;33592498;33691108;33717175;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;35051231;35318648;35580925;36010968;36215666;36241641;37938771;38520561;40914422;7568218;7995525;8407894;8423814;9171375;9312031", "class_list": "", "function": "Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder., [RefSeq, PubMed]; Involved in RNA polymerase III-mediated transcription. Integral, tightly associated component of the DNA-binding TFIIIC2 subcomplex that directly binds tRNA and virus-associated RNA promoters., [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": 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": "A6NI44;A6NJB9;Q5T7U2;Q5T7U3;Q8N2U7;Q8N857;Q96GD9;Q9H4P2", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0000995 RNA polymerase III general transcription initiation factor activity", "go_cellular_component": "GO:0000127 transcription factor TFIIIC complex;GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0042791 5S class rRNA transcription by RNA polymerase III;GO:0042797 tRNA transcription by RNA polymerase III;GO:0006383 transcription by RNA polymerase III;GO:0006384 transcription initiation at RNA polymerase III promoter", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "Q9Y5Q8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95214-1", "uniprot_id": "LERL1_HUMAN", "mass": 14428.0, "length": 131, "protein_name": "Leptin receptor overlapping transcript-like 1", "gene_name": "LEPROTL1", "organism": "Human", "refseq_name": "leptin receptor overlapping transcript-like 1 isoform 2", "refseq_ac": "NP_001121680", "gene_names_uniprotkb": "LEPROTL1; My047; PRO1139", "gene_names_refseq": "HSPC112; LEPROTL1; Vps55; my047", "protein_names_uniprotkb": "Leptin receptor overlapping transcript-like 1; Endospanin-2", "protein_names_refseq": "endospanin-2; leptin receptor overlapping transcript-like 1 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:23484)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11237011;11342119;12975309;19876004;19907080;28467828;28904123;29242379;29393594;29493099;29720572;30315122;30779550;30833945;30943467;31154438;31844290;32357974;33912179;33968037;34171305;34357683;34932366;35154160;35580925;36215666;36241641;36284347", "class_list": "", "function": "Negatively regulates growth hormone (GH) receptor cell surface expression in liver. May play a role in liver resistance to GH during periods of reduced nutrient availability., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Promoter Mutation Analysis of LEPROTL1 Gene in Acute Leukemias and Solid Tumors., [RefSeq, PubMed]; These results identify endospanin-2 as a potentially novel player in skeletal muscle metabolism, plasticity, and function. Publication Status: Online-Only, [RefSeq, PubMed]; Transgenic mice expressing either human LEPROT or human LEPROTL1 displayed growth retardation, reduced plasma IGF1 levels, and impaired hepatic sensitivity to GH, as measured by STAT5 phosphorylation and Socs2 mRNA 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": 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": "E9PHP8;Q9BW48", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005768 endosome;GO:0016020 membrane", "go_biological_process": "GO:0060400 negative regulation of growth hormone receptor signaling pathway;GO:0032511 late endosome to vacuole transport via multivesicular body sorting pathway", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "O95214-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y6G9-1", "uniprot_id": "DC1L1_HUMAN", "mass": 56579.0, "length": 523, "protein_name": "Cytoplasmic dynein 1 light intermediate chain 1", "gene_name": "DYNC1LI1", "organism": "Human", "refseq_name": "cytoplasmic dynein 1 light intermediate chain 1 isoform 1", "refseq_ac": "NP_057225", "gene_names_uniprotkb": "DYNC1LI1; DNCLI1", "gene_names_refseq": "DLC-A; DLIC-1; DNCLI1; DYNC1LI1; LIC1", "protein_names_uniprotkb": "Cytoplasmic dynein 1 light intermediate chain 1; DLC-A; DLIC-1; Dynein light chain A; Dynein light intermediate chain 1, cytosolic; LIC1", "protein_names_refseq": "cytoplasmic dynein 1 light intermediate chain 1 isoform 1; dynein light chain A; dynein light intermediate chain 1, cytosolic; dynein, cytoplasmic, light intermediate polypeptide 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:51143); (R-HSA-141430); (R-HSA-141444); (R-HSA-2132295); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-3371497); (R-HSA-5663220); (R-HSA-6798695); (R-HSA-6807878); (R-HSA-6811436); (R-HSA-68877); (R-HSA-9609690); (R-HSA-9646399); (R-HSA-9648025)", "pathway_count": 15, "publication_count": 454, 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"class_list": "", "function": "Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. May play a role in binding dynein to membranous organelles or chromosomes., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; Dynein light intermediate chain 1 is required for progress through the spindle assembly checkpoint, [RefSeq, PubMed]; Phosphorylation and Pin1 binding to the LIC1 subunit selectively regulate mitotic dynein functions., [RefSeq, PubMed]; The protein encoded by this gene belongs to light intermediate subunit family, whose members are components of the multiprotein cytoplasmic dynein complex, which is involved in intracellular trafficking and chromosome segregation during mitosis. The protein plays a role in moving the spindle assembly checkpoint (SAC) from kinetochores to spindle poles. The protein may also mediate binding to other cargo molecules to facilitate intracellular vesicle trafficking. [provided by RefSeq, Jul 2016]., [RefSeq]; Using a variety of complementary approaches, our results indicate a novel specific role for the LICs in dynein recruitment to components of the late endocytic 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": 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": 27, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "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": "A2RRG7;Q53HC8;Q53HK7", "ec_number_list": "", "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0030674 protein-macromolecule adaptor activity;GO:0019003 GDP binding", "go_cellular_component": "GO:0000922 spindle pole;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005874 microtubule;GO:0005886 plasma membrane", "go_biological_process": "GO:0051301 cell division;GO:0060627 regulation of vesicle-mediated transport;GO:0007018 microtubule-based movement;GO:0000226 microtubule cytoskeleton organization;GO:0032388 positive regulation of intracellular transport", "synthesized_glycan_count": 0, "hit_score": 46.4, "record_id": "Q9Y6G9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q2LD37-1", "uniprot_id": "BLTP1_HUMAN", "mass": 555482.0, "length": 5005, "protein_name": "Bridge-like lipid transfer protein family member 1", "gene_name": "BLTP1", "organism": "Human", "refseq_name": "bridge-like lipid transfer protein family member 1 isoform 2", "refseq_ac": "NP_056127", "gene_names_uniprotkb": "BLTP1; FSA; KIAA1109; KIAA1371; TWEEK", "gene_names_refseq": "ALKKUCS; BLTP1; FSA; KIAA1109; Tweek", "protein_names_uniprotkb": "Bridge-like lipid transfer protein family member 1; Fragile site-associated protein", "protein_names_refseq": "bridge-like lipid transfer protein family member 1 isoform 2; fragile site-associated protein", "tax_id": 9606, "disease": "Alkuraya-Kucinskas syndrome (Disease Ontology:DOID:0111555)", "pathway": " (hsa:84162)", "pathway_count": 1, "publication_count": 84, "publication_id_list": "11237011;16545529;17081983;17558408;17999365;18578522;19664994;21406692;21654843;23186163;23481700;24275569;24715725;25502872;25558065;25576301;25645385;25892735;26154972;26992070;27920218;28063628;28218747;28832583;28834231;28904123;29242379;29290337;29314611;29393594;29437277;29493099;29557506;29786170;30315122;30429286;30484775;30485398;30524438;30626607;30779550;30906834;31154438;31217245;31540829;31844290;31848261;32157095;32350084;32357974;32387766;32488085;32502341;32590954;32657846;32897882;32938616;32983136;33091337;33141586;33298915;33592498;33717175;33912179;33968037;33981976;34087483;34171305;34185709;34357683;34509645;35015055;35051231;35154160;35491307;35580925;36010968;36215666;36241641;36284347;37217939;37938771;38253038;40269155", "class_list": "", "function": "Bridge-like lipid transfer protein that functions as molecular bridges between endoplasmic reticulum and the membranes targeted for lipid delivery (PubMed:35491307, PubMed:40269155). Forms a tunnel with multiple beta-grooves that allows the transport of phospholipids (By similarity). Provides phosphatidylethanolamine for glycosylphosphatidylinositol (GPI) anchor synthesis in the endoplasmic reticulum (PubMed:35015055). Plays a role in endosomal trafficking and endosome recycling (PubMed:30906834). Also involved in the actin cytoskeleton and cilia structural dynamics (PubMed:30906834). Acts as a regulator of phagocytosis (PubMed:31540829). Required for the formation of endoplasmic reticulum-plasma membrane junctions which are critical for lipid exchange (PubMed:40269155)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; KIAA1109 gene mutation in surviving patients with Alkuraya-Kucinskas syndrome: a review of literature. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene is located on the long arm of chromosome 4 in a region that is associated with susceptibility to celiac disease. The encoded protein is similar to a Chinese hamster protein that is associated with spermatocyte and adipocyte differentiation. The C-terminus of the protein is also similar to a Caenorhabditis elegans protein that plays a role in lipid storage. In mammals, this protein is thought to function in the regulation of epithelial growth and differentiation, and in tumor development. [provided by RefSeq, Oct 2009]., [RefSeq]; Two novel pathogenic variants in KIAA1109 causing Alkuraya-Kucinskas syndrome in two Czech Roma brothers., [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": 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": 117, "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": "Q4W598;Q5CZA9;Q6ZS70;Q6ZV75;Q86XA5;Q8WVD8;Q9H742;Q9NT48;Q9NTC3;Q9NTI4;Q9P2H6;Q9UPP3", "ec_number_list": "", "go_molecular_function": "GO:1904121 phosphatidylethanolamine transfer activity", "go_cellular_component": "GO:0005634 nucleus;GO:0016020 membrane;GO:0031966 mitochondrial membrane;GO:0005789 endoplasmic reticulum membrane;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0006909 phagocytosis;GO:0001558 regulation of cell growth;GO:0016197 endosomal transport;GO:0032456 endocytic recycling;GO:0030856 regulation of epithelial cell differentiation", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "Q2LD37-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UK80-1", "uniprot_id": "UBP21_HUMAN", "mass": 62656.0, "length": 565, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 21", "gene_name": "USP21", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 21 isoform c", "refseq_ac": "NP_001014443", "gene_names_uniprotkb": "USP21; PP1490; USP23", "gene_names_refseq": "USP16; USP21; USP23", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 21; 3.4.19.12; Deubiquitinating enzyme 21; Ubiquitin thioesterase 21; Ubiquitin-specific-processing protease 21", "protein_names_refseq": "NEDD8-specific protease; deubiquitinating enzyme 21; ubiquitin carboxyl-terminal hydrolase 21 isoform c; ubiquitin carboxyl-terminal hydrolase 21; ubiquitin specific protease 21; ubiquitin thioesterase 21; ubiquitin thiolesterase 21; ubiquitin-specific processing protease 21; ubiquitin-specific protease 16", "tax_id": 9606, "disease": "", "pathway": " (hsa:27005); (R-HSA-5357786); (R-HSA-5357905); (R-HSA-5357956); (R-HSA-5689880)", "pathway_count": 5, "publication_count": 158, "publication_id_list": "10444327;10521396;10786635;10799498;10837247;10982817;11098060;11181075;11237011;11427719;11566882;11577081;11923872;12167698;12709429;12721308;12887920;12917689;12917691;14661020;14716293;15024054;15053880;15258597;15498874;15870263;15916963;16214042;16260783;16282325;16603398;16682944;16829951;16829952;16901786;16953224;16964248;17290220;17314102;17443180;17702576;17873522;17980597;17981138;18172164;18178551;18467330;18632802;18636086;19015242;19135894;19188362;19278658;19289468;19363159;19398555;19413330;19416807;19424180;19838211;19874889;19910467;20005846;20096447;20185725;20219915;20228808;20304918;20368735;20385093;20501646;21235526;21239494;21362556;21399617;21408173;21571647;21596315;21659512;21849505;21888622;21962518;22029577;22085928;22128162;22179575;22216260;22297296;22435550;22848449;23159851;23313255;23395819;23486064;23746843;23824326;23825189;24056413;24098568;24246475;24260525;24323043;24493797;24726323;24726327;24896179;25197364;25305019;25418920;25565632;25578727;25880248;26100909;26344099;26900751;26992070;26997266;27307491;27458237;27545878;27552911;27591049;28254948;28506461;28920952;28920954;29393594;29632046;29642005;30146158;30361438;30420664;30988283;31366726;31511692;31844290;32011234;32265295;32320653;32357974;33469115;34162724;34211107;34363755;34561969;34876703;35051231;35494241;35941131;36095935;36285444;37434557;37964466;7531702;7578059;7667287;9049422;9065443", "class_list": "", "function": "C-JUN-induced upregulation of LINC00174 contributes to colorectal cancer proliferation and invasion through accelerating USP21 expression., [RefSeq, PubMed]; Deubiquitinates histone H2A, a specific tag for epigenetic transcriptional repression, thereby acting as a coactivator (By similarity). Deubiquitination of histone H2A releaves the repression of di- and trimethylation of histone H3 at 'Lys-4', resulting in regulation of transcriptional initiation (By similarity). Regulates gene expression via histone H2A deubiquitination (By similarity). Deubiquitinates BAZ2A/TIP5 leading to its stabilization (PubMed:26100909). Also capable of removing NEDD8 from NEDD8 conjugates but has no effect on Sentrin-1 conjugates (PubMed:10799498). Also acts as a negative regulator of the ribosome quality control (RQC) by mediating deubiquitination of 40S ribosomal proteins RPS10/eS10 and RPS20/uS10, thereby antagonizing ZNF598-mediated 40S ubiquitination (PubMed:32011234)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes., [UniProtKB, UniProtKB]; Inhibition of USP21 leads to ovarian carcinoma cell death by suppressing MAPK signaling., [RefSeq, PubMed]; Salt-like transcription factor 4 promotes laryngeal cancer progression through transcriptional activation of ubiquitin-specific protease 21 to stabilize Yin Yang 1., [RefSeq, PubMed]; Study report that USP21 cleaves Ub polymers, and with reduced activity also targets ISG15, but is inactive against NEDD8., [RefSeq, PubMed]; This gene encodes a member of the C19 peptidase family, also known as family 2 of ubiquitin carboxy-terminal hydrolases. The encoded protein cleaves ubiquitin from ubiquitinated proteins for recycling in intracellular protein degradation. The encoded protein is also able to release NEDD8, a ubiquitin-like protein, from NEDD8-conjugated proteins. This gene has been referred to as USP16 and USP23 but is now known as USP21. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]., [RefSeq]; USP21 accelerates the proliferation and glycolysis of esophageal cancer cells by regulating the STAT3/FOXO1 pathway., [RefSeq, PubMed]; USP21 plays an important role in the down-regulation of TNFalpha-induced NF-kappaB activation through deubiquitinating RIP1., [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": 7, "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": "Q59H60;Q5BKT5;Q5VTW9;Q5VTX0;Q9BTV1;Q9HBS2;Q9NYN4", "ec_number_list": "2.7.11.10;2.7.11.1;2.7.11.25;3.4.19.12;3.6.4.13;2.3.2.-;2.3.2.27;2.3.2.31", "go_molecular_function": "GO:0019784 deNEDDylase activity;GO:0003713 transcription coactivator activity;GO:0046872 metal ion binding;GO:0008234 cysteine-type peptidase activity;GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005634 nucleus", "go_biological_process": "GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0045815 transcription initiation-coupled chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0006325 chromatin organization", "synthesized_glycan_count": 0, "hit_score": 15.9, "record_id": "Q9UK80-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HB07-1", "uniprot_id": "MYG1_HUMAN", "mass": 42508.0, "length": 376, "protein_name": "MYG1 exonuclease", "gene_name": "MYG1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "MYG1; C12orf10", "gene_names_refseq": "", "protein_names_uniprotkb": "MYG1 exonuclease; 3.1.-.-", "protein_names_refseq": "", "tax_id": 9606, "disease": "vitiligo (Disease Ontology:DOID:12306)", "pathway": " (hsa:60314)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11237011;19014353;19608861;20377893;23186163;25576301;26728094;27893789;27920218;28218747;28228285;28514659;28832583;29242379;29786170;30051642;30833945;31081026;31154438;31530632;31848261;32161166;34019948;34725712;35008409;35138101;38665916;40307207", "class_list": "", "function": "3'-5' RNA exonuclease which cleaves in situ on specific transcripts in both nucleus and mitochondrion. Involved in regulating spatially segregated organellar RNA processing, acts as a coordinator of nucleo-mitochondrial crosstalk (PubMed:31081026). In nucleolus, processes pre-ribosomal RNA involved in ribosome assembly and alters cytoplasmic translation. In mitochondrial matrix, processes 3'-termini of the mito-ribosomal and messenger RNAs and controls translation of mitochondrial proteins (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": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 1, "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": "Q86UA3", "ec_number_list": "", "go_molecular_function": "GO:0000175 3'-5'-RNA exonuclease activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "GO:0000959 mitochondrial RNA metabolic process;GO:0006397 mRNA processing;GO:0006364 rRNA processing", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q9HB07-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99697-1", "uniprot_id": "PITX2_HUMAN", "mass": 35370.0, "length": 317, "protein_name": "Pituitary homeobox 2", "gene_name": "PITX2", "organism": "Human", "refseq_name": "pituitary homeobox 2 isoform c", "refseq_ac": "NP_000316", "gene_names_uniprotkb": "PITX2; ARP1; RGS; RIEG1; RIEG", "gene_names_refseq": "ARP1; ASGD4; Brx1; IDG2; IGDS2; IGDS; IHG2; IRID2; Otlx2; PITX2; PTX2; RGS; RIEG1; RIEG; RS", "protein_names_uniprotkb": "Pituitary homeobox 2; ALL1-responsive protein ARP1; Homeobox protein PITX2; Paired-like homeodomain transcription factor 2; RIEG bicoid-related homeobox transcription factor; Solurshin", "protein_names_refseq": "ALL1-responsive protein ARP1; all1-responsive gene 1; homeobox protein PITX2; paired-like homeodomain transcription factor 2; pituitary homeobox 2 isoform c; pituitary homeobox 2; rieg bicoid-related homeobox transcription factor 1; solurshin", "tax_id": 9606, "disease": "Arts syndrome (Disease Ontology:DOID:0050647); anterior segment dysgenesis 4 (Disease Ontology:DOID:0080609); Axenfeld-Rieger syndrome type 1 (Disease Ontology:DOID:0110120); ring dermoid of cornea (Disease Ontology:DOID:0111548); hypothyroidism (Disease Ontology:DOID:1459); Axenfeld-Rieger syndrome (Disease Ontology:DOID:14686); glaucoma (Disease Ontology:DOID:1686); autosomal dominant polycystic kidney disease (Disease Ontology:DOID:898)", "pathway": " (hsa:5308); (R-HSA-8866906)", "pathway_count": 2, "publication_count": 23, "publication_id_list": "10051017;10937553;11237011;11487566;12381896;15475956;15591271;16936096;20019746;20881294;22224469;22735262;22919265;36868229;37495323;38419062;38592784;38665916;38710403;8944018;9437321;9539779;9618168", "class_list": "", "function": "Exploring the association between PITX2, third molars agenesis and sella turcica morphology : PITX2, third molars agenesis and sella turcica morphology. Publication Status: Online-Only, [RefSeq, PubMed]; Intergenic sequences harboring potential enhancer elements contribute to Axenfeld-Rieger syndrome by regulating PITX2. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in the establishment of left-right asymmetry in the developing embryo., [UniProtKB, UniProtKB]; May play a role in myoblast differentiation. When unphosphorylated, associates with an ELAVL1-containing complex, which stabilizes cyclin mRNA and ensuring cell proliferation. Phosphorylation by AKT2 impairs this association, leading to CCND1 mRNA destabilization and progression towards differentiation., [UniProtKB, UniProtKB]; PITX2 functions as a transcription factor for GPX4 and protects pancreatic cancer cells from ferroptosis., [RefSeq, PubMed]; PITX2 induction leads to impaired cardiomyocyte function in arrhythmogenic cardiomyopathy., [RefSeq, PubMed]; Pulmonary Vein Myocardial Sleeve Length and its Association With Sex and 4q25/PITX2 Genotype., [RefSeq, PubMed]; This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. The encoded protein acts as a transcription factor and regulates procollagen lysyl hydroxylase gene expression. This protein plays a role in the terminal differentiation of somatotroph and lactotroph cell phenotypes, is involved in the development of the eye, tooth and abdominal organs, and acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. Mutations in this gene are associated with Axenfeld-Rieger syndrome, iridogoniodysgenesis syndrome, and sporadic cases of Peters anomaly. A similar protein in other vertebrates is involved in the determination of left-right asymmetry during development. Alternatively spliced transcript variants encoding distinct isoforms have been described. [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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K6C6;B2RA02;B3KXS0;O60578;O60579;O60580;Q3KQX9;Q9BY17", "ec_number_list": "", "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0043021 ribonucleoprotein complex binding;GO:0051219 phosphoprotein 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:0060971 embryonic heart tube left/right pattern formation;GO:0060126 somatotropin secreting cell differentiation;GO:0060127 prolactin secreting cell differentiation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q99697-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43240-1", "uniprot_id": "KLK10_HUMAN", "mass": 30170.0, "length": 276, "protein_name": "Kallikrein-10", "gene_name": "KLK10", "organism": "Human", "refseq_name": "kallikrein-10 preproprotein", "refseq_ac": "NP_001070968", "gene_names_uniprotkb": "KLK10; NES1; PRSSL1", "gene_names_refseq": "KLK10; NES1; PRSSL1", "protein_names_uniprotkb": "Kallikrein-10; 3.4.21.-; Normal epithelial cell-specific 1; Protease serine-like 1", "protein_names_refseq": "breast normal epithelial cell associated serine protease; kallikrein 10 protein 12; kallikrein 10 protein 13; kallikrein 10 protein 2; kallikrein 10 protein 3; kallikrein 10 protein 4; kallikrein 10 protein 5; kallikrein 10 protein 7; kallikrein 10 protein 8; kallikrein 10 protein 9; kallikrein-10 preproprotein; kallikrein-10; normal epithelial cell-specific 1; protease serine-like 1", "tax_id": 9606, "disease": "ductal carcinoma in situ (Disease Ontology:DOID:0060074); prostate cancer (Disease Ontology:DOID:10283); ovarian cancer (Disease Ontology:DOID:2394); uterine cancer (Disease Ontology:DOID:363)", "pathway": " (hsa:5655)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11054574;11237011;12591730;16103744;25576301;29093164;29789417;35691099;37972446;38115179;38475666;38866875;8764136;9647736;9809976", "class_list": "", "function": "Has a tumor-suppressor role for NES1 in breast and prostate cancer., [UniProtKB]; KLK10 derived from tumor endothelial cells accelerates colon cancer cell proliferation and hematogenous liver metastasis formation., [RefSeq, PubMed]; KLK10 promotes the progression of KRAS mutant colorectal cancer via PAR1-PDK1-AKT signaling pathway., [RefSeq, PubMed]; Kallikrein-related peptidase 10 predicts prognosis and mediates tumor immunomodulation in colorectal cancer., [RefSeq, PubMed]; Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Its encoded protein is secreted and may play a role in suppression of tumorigenesis in breast and prostate cancers. Alternate splicing of this gene results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]., [RefSeq]; MiR-194-3p represses the docetaxel resistance in colon cancer by targeting KLK10., [RefSeq, PubMed]; MicroRNA-141-regulated KLK10 and TNFSF-15 gene expression in hepatoblastoma cells as a novel mechanism in liver carcinogenesis. 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": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "prognostic", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NC12;Q53YL3;Q99920;Q9GZW9", "ec_number_list": "", "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0030141 secretory granule", "go_biological_process": "GO:0006508 proteolysis;GO:0051604 protein maturation", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "O43240-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IV53-1", "uniprot_id": "DEN1C_HUMAN", "mass": 87065.0, "length": 801, "protein_name": "DENN domain-containing protein 1C", "gene_name": "DENND1C", "organism": "Human", "refseq_name": "DENN domain-containing protein 1C isoform 2", "refseq_ac": "NP_001277260", "gene_names_uniprotkb": "DENND1C; FAM31C", "gene_names_refseq": "DENND1C; FAM31C", "protein_names_uniprotkb": "DENN domain-containing protein 1C; Connecdenn 3; Protein FAM31C", "protein_names_refseq": "DENN domain-containing protein 1C isoform 2; DENN domain-containing protein 1C; DENN/MADD domain containing 1C; connecdenn 3; family with sequence similarity 31, member C", "tax_id": 9606, "disease": "", "pathway": " (hsa:79958); (R-HSA-8876198)", "pathway_count": 2, "publication_count": 218, "publication_id_list": "10818110;10990452;11038176;11179213;11237011;11516400;11689439;11703925;11746448;11784320;11917121;12058051;12221131;12244319;12364329;12427552;12475894;12684051;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;1845915;18477474;18559336;18585354;18664496;18701652;18779367;18804435;1900457;19109890;19345684;19403694;19490898;19620288;19656848;19725050;19729655;19745841;20008558;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;22365832;22433857;22511774;22581368;22595670;22622570;22648168;22653444;22705394;22762500;22908308;22983554;23084991;23091056;23147242;23176487;23176493;23220125;23239882;23247405;23263280;23295650;23333653;23351085;23357852;23378591;23420520;23444368;23478338;23481700;23645161;23678941;23684622;23713133;23839779;24275569;24296415;24644286;24694596;24715725;24719330;24891604;24917561;24967941;25074980;25341920;25343031;25472813;25505266;25576301;25648148;25713415;25925668;26055712;26177209;26245486;26434594;26538022;26925400;26936971;26992070;27041585;27044746;27103185;27246931;27329675;27846572;27862975;27920218;28063628;28228285;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;30410026;31217245;31844290;32350084;32387766;33141586;33298915;33592498;33717175;34087483;34211107;34561969;35051231;35580925;40307207;40914422;7688123;7911226;8144603;8408203;8522602;8863739;9020086;9020161;9030515;9136770;9323142;9590177;9733780", "class_list": "", "function": "Guanine nucleotide exchange factor (GEF) which may activate RAB8A, RAB13 and RAB35. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form., [UniProtKB, PubMed, PubMed]; The protein encoded by this gene functions as a guanine nucleotide exchange factor for the early endosomal small GTPase RAB35, which regulates endosomal membrane trafficking and is involved in actin polymerization. The encoded protein activates RAB35 by promoting the exchange of RAB35-bound GDP for GTP. This gene may play a role in linking RAB35 activation with the clathrin machinery. [provided by RefSeq, May 2017]., [RefSeq]; Whereas connecdenn 1 and 2 activate Rab35 for endosomal trafficking, connecdenn 3 uniquely activates Rab35 for its role in actin regulation, [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": 2, "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": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4E051;D3PFD4;Q8NDB1;Q9H5Z2", "ec_number_list": "", "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity;GO:1901981 phosphatidylinositol phosphate binding", "go_cellular_component": "GO:0005829 cytosol;GO:0030136 clathrin-coated vesicle", "go_biological_process": "GO:0006897 endocytosis;GO:0032456 endocytic recycling", "synthesized_glycan_count": 0, "hit_score": 22.2, "record_id": "Q8IV53-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VZ72-1", "uniprot_id": "IZUM3_HUMAN", "mass": 27768.0, "length": 239, "protein_name": "Izumo sperm-egg fusion protein 3", "gene_name": "IZUMO3", "organism": "Human", "refseq_name": "izumo sperm-egg fusion protein 3 isoform 2 precursor", "refseq_ac": "NP_001351937", "gene_names_uniprotkb": "IZUMO3; C9orf134", "gene_names_refseq": "C9orf134; IZUMO3; bA20A20.1", "protein_names_uniprotkb": "Izumo sperm-egg fusion protein 3", "protein_names_refseq": "izumo sperm-egg fusion protein 3 isoform 2 precursor; izumo sperm-egg fusion protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:100129669); (R-HSA-1300645)", "pathway_count": 2, "publication_count": 5, "publication_id_list": "11080640;11237011;19335925;19658160;28181694", "class_list": "", "function": "Plays an important role in the biogenesis of the acrosome during sperm development., [UniProtKB, UniProtKB]; Two sex-specific loci(SPTB in females and IZUMO3 in males), yielding associations that were particularly strong at a specific skeletal site, were identified., [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": 7, "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:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0002079 inner acrosomal membrane", "go_biological_process": "GO:0001675 acrosome assembly", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q5VZ72-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q71RC2-1", "uniprot_id": "LARP4_HUMAN", "mass": 80596.0, "length": 724, "protein_name": "La-related protein 4", "gene_name": "LARP4", "organism": "Human", "refseq_name": "la-related protein 4 isoform e", "refseq_ac": "NP_001164275", "gene_names_uniprotkb": "LARP4; PP13296", "gene_names_refseq": "LARP4; PP13296", "protein_names_uniprotkb": "La-related protein 4; La ribonucleoprotein domain family member 4", "protein_names_refseq": "La ribonucleoprotein domain family member 4; La-related protein 4; c-Mpl binding protein; la-related protein 4 isoform e", "tax_id": 9606, "disease": "", "pathway": " (hsa:113251)", "pathway_count": 1, "publication_count": 95, "publication_id_list": "11237011;15144186;15498874;15572213;16682284;16964243;17081983;17697703;18669648;18691976;19690332;20068231;21098120;21406692;21834987;23186163;23301498;24129315;24275569;24714562;25418920;25880248;26154972;26375851;26992070;27397612;27600516;27615744;27846572;27920218;28063628;28218747;28228285;28510447;28649982;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29557506;29632046;30315122;30410026;30524438;31217245;31844290;32157095;32161166;32357974;32387766;32488085;32502341;32744499;32897882;32928873;32938616;32983136;33141586;33214551;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34509645;34932366;35051231;35138101;35254053;35318648;35561310;35580925;36010968;36241641;36284347;36730544;37938771;38164626;38665916;38678610;40596516", "class_list": "", "function": "Biological functions of Circular RNA_LARP4/ Upstream frameshift 1 in development of gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; CircBNC2 affects epithelial ovarian cancer progression through the miR-223-3p/ LARP4 axis., [RefSeq, PubMed]; FISH study showed no cytogenetic abnormalities in any of the analyzed cases., [RefSeq, PubMed]; LARP4 activity is integrated with other PAM2 protein activities by PABP as part of mRNA homeostasis., [RefSeq, PubMed]; LARP4 is an RNA-binding protein that binds nuclear-encoded mitochondrial mRNAs to promote mitochondrial function. Publication Status: Online-Only, [RefSeq, PubMed]; RNA binding protein that binds to the poly-A tract of mRNA molecules (PubMed:21098120). Associates with the 40S ribosomal subunit and with polysomes (PubMed:21098120). Plays a role in the regulation of mRNA translation (PubMed:21098120). Essential for proper regulation of cell morphology and cytoskeletal organization (PubMed:21834987, PubMed:27615744)., [UniProtKB, PubMed, PubMed, PubMed]; Single molecule poly(A) tail-seq shows LARP4 opposes deadenylation throughout mRNA lifespan with most impact on short tails. Publication Status: Online-Only, [RefSeq, PubMed]; The c-MPL protein altered expression provide an opportunity to diagnose and identify subpopulations of MPD patients. 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": 9, "reported_mutagensis": 2, "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": "A8K6T1;E9PDG5;G3XAA8;G5E976;Q5CZ97;Q6ZV14;Q96NF9", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003730 mRNA 3'-UTR binding;GO:0008143 poly(A) binding", "go_cellular_component": "GO:0005829 cytosol;GO:0016020 membrane;GO:0010494 cytoplasmic stress granule", "go_biological_process": "GO:0010608 post-transcriptional regulation of gene expression;GO:0006412 translation;GO:0045727 positive regulation of translation", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "Q71RC2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TEH3-1", "uniprot_id": "DEN1A_HUMAN", "mass": 110577.0, "length": 1009, "protein_name": "DENN domain-containing protein 1A", "gene_name": "DENND1A", "organism": "Human", "refseq_name": "DENN domain-containing protein 1A isoform 1", "refseq_ac": "NP_065997", "gene_names_uniprotkb": "DENND1A; FAM31A; KIAA1608", "gene_names_refseq": "DENND1A; FAM31A; KIAA1608", "protein_names_uniprotkb": "DENN domain-containing protein 1A; Connecdenn 1; Connecdenn; Protein FAM31A", "protein_names_refseq": "DENN domain-containing protein 1A isoform 1; DENN domain-containing protein 1A; DENN/MADD domain containing 1A; connecdenn 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:57706); (R-HSA-8876198)", "pathway_count": 2, "publication_count": 242, "publication_id_list": "10818110;10990452;11038176;11179213;11237011;11516400;11689439;11703925;11746448;11784320;11917121;12058051;12221131;12244319;12364329;12427552;12475894;12684051;12944476;12972505;15096524;15138286;1516130;15247254;15388334;15528189;15561770;15692570;15878329;15914536;15958533;16207721;16373702;16410077;16525024;16525121;16571673;16641372;16754960;16880209;16950109;17043139;17081983;17132146;17189207;17208202;17239822;17287728;17488286;17562788;17574030;17646400;17671165;17678623;18076383;18094055;18220336;18354496;18367545;18452278;1845915;18477474;18510355;18559336;18585354;18664496;18669648;18691976;18701652;18779367;18804435;1900457;19109890;19345684;19403694;19490898;19620288;19651622;19656848;19690332;19725050;19729655;19745841;19901323;19913121;20008558;20068231;20154091;20159109;20159556;20305638;20308558;20404108;20434987;20583170;20592283;20797862;20851765;20937701;21041651;2115402;21183348;21187289;21216617;21273506;21330364;21406692;21421921;21445324;21458671;21532587;21554507;21586568;21683469;21706022;21718402;21776405;21951725;22013193;22065758;22072793;22171327;22180642;22365832;22433857;22511774;22581368;22595670;22622570;22648168;22653444;22705394;22762500;22908308;22983554;23084991;23091056;23147242;23176487;23176493;23186163;23208300;23220125;23239882;23247405;23263280;23295650;23333653;23351085;23357852;23378591;23420520;23444368;23478338;23481700;23645161;23678941;23684622;23713133;23839779;24086769;24275569;24296415;24644286;24694596;24715725;24719330;24891604;24917561;24967941;25074980;25341920;25343031;25472813;25505266;25626177;25648148;25713415;25925668;26055712;26177209;26245486;26434594;26538022;26925400;26936971;26992070;27041585;27044746;27103185;27246931;27329675;27846572;28228285;28904123;29557506;30410026;30429286;31184707;31217245;31844290;31941453;32157095;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33691108;33717175;33912179;33936100;33968037;34171305;34211107;34320236;34509645;35051231;35251023;35561310;35580925;36010968;36241641;36350975;37870708;7688123;7911226;8144603;8408203;8522602;8863739;9020086;9020161;9030515;9136770;9323142;9590177;9733780", "class_list": "", "function": "A Multi-center Genome-wide Association Study of Cervical Dystonia., [RefSeq, PubMed]; Association of FSHR and DENND1A polymorphisms with polycystic ovary syndrome: a meta-analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1A, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010]., [RefSeq]; Decreased miR-130b-3p expression in PCOS theca cells, which was correlated with increased DENND1A.V2, cytochrome P450 17alpha-hydroxylase (CYP17A1) mRNA and androgen biosynthesis., [RefSeq, PubMed]; Guanine nucleotide exchange factor (GEF) regulating clathrin-mediated endocytosis through RAB35 activation. Promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB35 into its active GTP-bound form. Regulates clathrin-mediated endocytosis of synaptic vesicles and mediates exit from early endosomes (PubMed:20154091, PubMed:20937701). Binds phosphatidylinositol-phosphates (PtdInsPs), with some preference for PtdIns(3)P (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; The tagging SNPs rs2479106 and rs2468819 in the DENND1A gene are associated with polycystic ovary syndrome (PCOS) in the Chinese population, whereas rs2670139, rs2536951 and rs2479102 are not correlated with PCOS in the same population Publication Status: Online-Only, [RefSeq, PubMed]; Unraveling the Genetic Associations of DENND1A (rs9696009) and ERBB4 (rs2178575) with Infertile Polycystic Ovary Syndrome Females in Pakistan., [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": 12, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 14, "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": "A8MZA3;B1AM80;B7Z3C8;B7Z669;D3PFD3;Q05C88;Q5VWF0;Q6PJZ5;Q8IVD6;Q9H796", "ec_number_list": "", "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity;GO:1901981 phosphatidylinositol phosphate binding;GO:0032266 phosphatidylinositol-3-phosphate binding;GO:0017124 SH3 domain binding;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005829 cytosol;GO:0030136 clathrin-coated vesicle;GO:0030665 clathrin-coated vesicle membrane;GO:0042734 presynaptic membrane;GO:0030425 dendrite", "go_biological_process": "GO:0032483 regulation of Rab protein signal transduction;GO:0006897 endocytosis;GO:0015031 protein transport;GO:0032456 endocytic recycling", "synthesized_glycan_count": 0, "hit_score": 24.3, "record_id": "Q8TEH3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NP97-1", "uniprot_id": "DLRB1_HUMAN", "mass": 10922.0, "length": 96, "protein_name": "Dynein light chain roadblock-type 1", "gene_name": "DYNLRB1", "organism": "Human", "refseq_name": "dynein light chain roadblock-type 1 isoform a", "refseq_ac": "NP_054902", "gene_names_uniprotkb": "DYNLRB1; BITH; DNCL2A; DNLC2A; HSPC162; ROBLD1", "gene_names_refseq": "BITH; BLP; DNCL2A; DNLC2A; DYNLRB1; ROBLD1", "protein_names_uniprotkb": "Dynein light chain roadblock-type 1; BLP; Bithoraxoid-like protein; Dynein light chain 2A, cytoplasmic; Dynein-associated protein Km23; Roadblock domain-containing protein 1", "protein_names_refseq": "ROBL/LC7-like 1; bithoraxoid-like protein; dynein light chain roadblock-type 1 isoform a; dynein, cytoplasmic, light polypeptide 2A; dynein-associated protein Km23; roadblock domain-containing protein 1", "tax_id": 9606, "disease": "hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:83658); (R-HSA-5620924)", "pathway_count": 2, "publication_count": 126, "publication_id_list": "10069812;11237011;11285270;11750132;12077152;12665801;12795688;15231740;15269286;15489852;15523559;15955805;16049494;16083906;16435301;16492809;16775004;16782012;16970917;17074750;17312020;17314406;17574030;18044744;18180368;18304522;18364699;18369462;18852297;19112494;19147001;19253336;19384852;19450523;19720863;19805633;20435895;20526327;20526328;20530210;20889716;21427764;21936775;22118932;22869377;22922713;22992454;23333499;23945166;23990561;24140113;24296415;24596149;24616010;24715725;25205765;25349261;25443296;25576301;25645385;25810538;25880248;26154972;26375851;26992070;27543614;27600516;27846572;27862975;28228285;28832583;28834231;28904123;29242379;29331515;29420470;29493099;29508533;29557506;29632711;29786170;29789417;30315122;30429286;30779550;30833945;31222486;31844290;31848261;31998317;32157095;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33043033;33141586;33392160;33592498;33691108;33717175;33912179;33968037;33981976;34509645;34932366;35051231;35154160;35251023;35318648;35580925;36010968;36071160;36241641;36284347;36581221;37938771;8516294;8522608;9114011;9585416;9585417;9852153", "class_list": "", "function": "Component of dynein, a family of motor proteins essential for movement along microtubules (By similarity). Required for structural and functional integrity of cilia (By similarity). Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function (Probable). Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules (Probable)., [UniProtKB, PubMed, UniProtKB]; This gene is a member of the roadblock dynein light chain family. The encoded cytoplasmic protein is capable of binding intermediate chain proteins, interacts with transforming growth factor-beta, and has been implicated in the regulation of actin modulating proteins. Upregulation of this gene has been associated with hepatocellular carcinomas, suggesting that this gene may be involved in tumor progression. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 12 and 18. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B1AKR5;Q5TC72;Q96IV3;Q9NQM2", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0003777 microtubule motor activity;GO:0045505 dynein intermediate chain binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005874 microtubule;GO:0005929 cilium;GO:0016020 membrane", "go_biological_process": "GO:0007018 microtubule-based movement;GO:0007632 visual behavior;GO:0032388 positive regulation of intracellular transport;GO:0035721 intraciliary retrograde transport;GO:0090267 positive regulation of mitotic cell cycle spindle assembly checkpoint", "synthesized_glycan_count": 0, "hit_score": 12.7, "record_id": "Q9NP97-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O76013-1", "uniprot_id": "KRT36_HUMAN", "mass": 52247.0, "length": 467, "protein_name": "Keratin, type I cuticular Ha6", "gene_name": "KRT36", "organism": "Human", "refseq_name": "keratin, type I cuticular Ha6", "refseq_ac": "NP_003762", "gene_names_uniprotkb": "KRT36; HHA6; HKA6; KRTHA6", "gene_names_refseq": "HA6; KRT36; KRTHA6; hHa6", "protein_names_uniprotkb": "Keratin, type I cuticular Ha6; Hair keratin, type I Ha6; K36; Keratin-36", "protein_names_refseq": "K36; hair keratin, type I Ha6; keratin 36, type I; keratin, hair, acidic, 6; keratin, type I cuticular Ha6", "tax_id": 9606, "disease": "", "pathway": " (hsa:8689); (R-HSA-6805567); (R-HSA-6809371)", "pathway_count": 3, "publication_count": 58, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11350120;11380615;11590230;12902340;15033990;15337775;15373777;15797384;15803139;16061697;16382671;16639001;1691188;1694855;17081983;1714783;17515931;17521629;17562024;17596512;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23481192;23629652;2414304;25208914;25926655;26390218;26992070;28038473;30410026;30429286;31844290;32161166;32387766;34019948;38665916;7543090;8824274;8999895;9395522;9468612;9565599;9756910", "class_list": "", "function": "Low KRT36 expression is associated with tongue squamous cell carcinoma., [RefSeq, PubMed]; The protein encoded by this gene is a member of the keratin gene family. This type I hair keratin is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [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": "Q86XG4", "ec_number_list": "", "go_molecular_function": "GO:0030280 structural constituent of skin epidermis", "go_cellular_component": "GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0070062 extracellular exosome;GO:0045095 keratin filament", "go_biological_process": "GO:0030855 epithelial cell differentiation;GO:0045109 intermediate filament organization;GO:0045616 regulation of keratinocyte differentiation;GO:0002009 morphogenesis of an epithelium", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "O76013-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q1A5X6-1", "uniprot_id": "IQCJ_HUMAN", "mass": 18226.0, "length": 159, "protein_name": "IQ domain-containing protein J", "gene_name": "IQCJ", "organism": "Human", "refseq_name": "IQ domain-containing protein J isoform CaMBPv1", "refseq_ac": "NP_001036170", "gene_names_uniprotkb": "IQCJ", "gene_names_refseq": "IQCJ", "protein_names_uniprotkb": "IQ domain-containing protein J", "protein_names_refseq": "IQ domain-containing protein J isoform CaMBPv1; IQ domain-containing protein J; calmodulin binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:654502)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;17045569;27160456;28134766", "class_list": "", "function": "A genome-wide association study (GWAS) identified loci associated with the plasma triglyceride (TG) response to omega-3 fatty acid (FA) supplementation in IQCJ, NXPH1, PHF17 and MYB. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of SNPs within the IQCJ, NXPH1, PHF17 and MYB genes partly explaining the large interindividual variability observed in plasma triglyceride levels in response to an n-3 fatty acid 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "B7ZMM2;B9EH97;Q1A5X5", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q1A5X6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IUC2-1", "uniprot_id": "KRA81_HUMAN", "mass": 6826.0, "length": 63, "protein_name": "Keratin-associated protein 8-1", "gene_name": "KRTAP8-1", "organism": "Human", "refseq_name": "keratin-associated protein 8-1", "refseq_ac": "NP_787053", "gene_names_uniprotkb": "KRTAP8-1; KAP8.1; KRTAP8.1", "gene_names_refseq": "KAP8.1; KRTAP8-1", "protein_names_uniprotkb": "Keratin-associated protein 8-1; High glycine-tyrosine keratin-associated protein 8.1", "protein_names_refseq": "high glycine-tyrosine keratin-associated protein 8.1; keratin-associated protein 8-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:337879); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 13, "publication_id_list": "12359730;15028290;15373777;16382671;1691188;1694855;1714783;17521629;23481192;23791804;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]; The helical arrangement of intermediate filament proteins found in the orthocortex, which is uniquely distributed on the convex fiber side of the hair, is regulated by KAP8.1, [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": 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": "Q3LI57", "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": 1.4, "record_id": "Q8IUC2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60500-1", "uniprot_id": "NPHN_HUMAN", "mass": 134742.0, "length": 1241, "protein_name": "Nephrin", "gene_name": "NPHS1", "organism": "Human", "refseq_name": "nephrin precursor", "refseq_ac": "NP_004637", "gene_names_uniprotkb": "NPHS1; NPHN", "gene_names_refseq": "CNF; NPHN; NPHS1; nephrin", "protein_names_uniprotkb": "Nephrin; Renal glomerulus-specific cell adhesion receptor", "protein_names_refseq": "NPHS1, nephrin; nephrin precursor; nephrosis 1, congenital, Finnish type (nephrin); renal glomerulus-specific cell adhesion receptor", "tax_id": 9606, "disease": "nephrotic syndrome type 1 (Disease Ontology:DOID:0080390); kidney failure (Disease Ontology:DOID:1074); membranous glomerulonephritis (Disease Ontology:DOID:10976); nephrotic syndrome (Disease Ontology:DOID:1184); familial nephrotic syndrome (Disease Ontology:DOID:2590); kidney disease (Disease Ontology:DOID:557); proteinuria (Disease Ontology:DOID:576); end stage renal disease (Disease Ontology:DOID:783)", "pathway": " (hsa:4868); (R-HSA-373753)", "pathway_count": 2, "publication_count": 64, "publication_id_list": "10393930;10541305;10550324;10611248;10652016;11317351;11340081;11562357;11726550;11733557;12660326;12668668;12846735;12865409;14570703;14633607;15331416;15545998;15579503;15634346;15843475;15994232;16525419;16543952;16630808;16968782;17290294;17893108;17923684;18033240;18088087;18503012;18614772;19179337;19309778;19443634;20172850;20233749;20798252;21321125;22009864;22565185;22718751;22732337;23595123;25321392;25804400;26560236;28955049;29557506;29731959;29959197;30212551;31530632;31844290;32387766;34087483;35051231;35747929;35946274;36834691;37495741;9660941;9915943", "class_list": "", "function": "Anti-nephrin antibodies in steroid-sensitive nephrotic syndrome in Japanese children., [RefSeq, PubMed]; Clinicopathological Impact of Gene Polymorphism of Nephrin and Glucocorticoid Receptor Genes in Egyptian Children with Nonfamilial Nephrotic Syndrome., [RefSeq, PubMed]; Loss of S1P Lyase Expression in Human Podocytes Causes a Reduction in Nephrin Expression That Involves PKCdelta Activation. Publication Status: Online-Only, [RefSeq, PubMed]; Nephrin expression in human epidermal keratinocytes and its implication in poor wound closure., [RefSeq, PubMed]; Seems to play a role in the development or function of the kidney glomerular filtration barrier. Regulates glomerular vascular permeability. May anchor the podocyte slit diaphragm to the actin cytoskeleton. Plays a role in skeletal muscle formation through regulation of myoblast fusion (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009]., [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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "reported_glycation": 0, "reported_snv": 50, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 8, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "A6NDH2;C3RX61", "ec_number_list": "", "go_molecular_function": "GO:0050839 cell adhesion molecule binding;GO:0017022 myosin binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0005925 focal adhesion;GO:0070062 extracellular exosome;GO:0042995 cell projection", "go_biological_process": "GO:0036060 slit diaphragm assembly;GO:0098609 cell-cell adhesion;GO:0007520 myoblast fusion;GO:0035418 protein localization to synapse;GO:0007519 skeletal muscle tissue development", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "O60500-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P19544-1", "uniprot_id": "WT1_HUMAN", "mass": 49188.0, "length": 449, "protein_name": "Wilms tumor protein", "gene_name": "WT1", "organism": "Human", "refseq_name": "Wilms tumor protein isoform E", "refseq_ac": "NP_001185480", "gene_names_uniprotkb": "WT1", "gene_names_refseq": "AWT1; GUD; NPHS4; WAGR; WIT-2; WT-1; WT1; WT33", "protein_names_uniprotkb": "Wilms tumor protein; WT33", "protein_names_refseq": "Wilms tumor 1; Wilms tumor protein isoform E", "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); 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); Meacham syndrome (MONDO:MONDO:0012164)", "pathway": " (hsa:7490); (R-HSA-9690406); (R-HSA-9764725); (R-HSA-9831926)", "pathway_count": 4, "publication_count": 141, "publication_id_list": "10571943;10655587;10738002;10799199;11001926;11182928;11207191;11237011;11278460;11519891;11912130;12239212;12665546;12700765;12970737;1302008;1313285;1317572;1338906;15150775;15253707;15266301;15349765;15365188;15518539;15520190;15534094;15542832;1572653;15889150;1654525;1655284;1658787;1671709;16934801;17130829;17361230;17716689;17853480;18445271;18591546;19123921;19228720;19416806;20418909;20798252;20871592;21412441;2154335;2154702;22158034;22899867;23466526;23637823;24154794;24315637;25258363;25395422;25728771;25750272;25802083;25835542;25882672;26154972;26212009;26492414;26992070;27132023;28321480;28472341;28860210;28972039;29106410;29344432;29358173;29493099;29557506;29729076;30230959;30449714;30464762;30552336;30631324;30678050;30824610;30898548;31216557;31223481;31375868;31575892;31972992;32184297;32310221;32387766;32547743;32938616;32945369;33074657;33608512;33836029;34509645;35008676;35051231;35138000;35138909;35138911;35154160;35292107;35851744;36138335;36165170;36411612;36672344;36768214;37761976;38548410;38810886;39116074;39259326;39509060;7862533;7926762;8012395;8111391;8112732;8295405;8388765;8393820;8401592;8411073;8621495;8741319;8956030;9108089;9361029;9366517;9475094;9529364;9607189;9774680;9815658", "class_list": "", "function": "Alternative splicing, RNA editing, and the use of alternative translation initiation sites generate a multitude of isoforms, which seem to have overlapping but also distinct functions during embryonic development and the maintenance of organ function. Review article, [RefSeq, PubMed]; This gene encodes a transcription factor that contains four zinc-finger motifs at the C-terminus and a proline/glutamine-rich DNA-binding domain at the N-terminus. It has an essential role in the normal development of the urogenital system, and it is mutated in a small subset of patients with Wilms tumor. This gene exhibits complex tissue-specific and polymorphic imprinting pattern, with biallelic, and monoallelic expression from the maternal and paternal alleles in different tissues. Multiple transcript variants have been described. In several variants, there is evidence for the use of a non-AUG (CUG) translation initiation codon upstream of, and in-frame with the first AUG. Authors of PMID:7926762 also provide evidence that WT1 mRNA undergoes RNA editing in human and rat, and that this process is tissue-restricted and developmentally regulated. [provided by RefSeq, Mar 2015]., [RefSeq]; Transcription factor required for development of the vascular component of the pronephric kidney, the glomus; may repress tubule-specific gene expression in the portion of the pronephros fated to form the glomus. Recognizes and binds to the DNA sequence 5'-GCG(T/G)GGGCG-3'. Inhibits Wnt-signaling during embryonic development., [UniProtKB, UniProtKB, UniProtKB]; Transcription factor that plays an important role in cellular development and cell survival (PubMed:7862533). Recognizes and binds to the DNA sequence 5'-GCG(T/G)GGGCG-3' (PubMed:17716689, PubMed:25258363, PubMed:7862533). Regulates the expression of numerous target genes, including EPO. Plays an essential role for development of the urogenital system. It has a tumor suppressor as well as an oncogenic role in tumor formation. Function may be isoform-specific: isoforms lacking the KTS motif may act as transcription factors (PubMed:15520190). Isoforms containing the KTS motif may bind mRNA and play a role in mRNA metabolism or splicing (PubMed:16934801). Isoform 1 has lower affinity for DNA, and can bind RNA (PubMed:19123921)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Transcription factor that plays an important role in cellular development and cell survival. Recognizes and binds to the DNA sequence 5'-GCG(T/G)GGGCG-3'. Regulates the expression of numerous target genes, including EPO. Plays an essential role for development of the urogenital system. It has a tumor suppressor as well as an oncogenic role in tumor formation. Function may be isoform-specific: isoforms lacking the KTS motif may act as transcription factors. Isoforms containing the KTS motif may bind mRNA and play a role in mRNA metabolism or splicing. Isoform 1 has lower affinity for DNA, and can bind RNA., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Use of non-AUG (CUG) translation initiation site upstream of, and in-frame with the first AUG, generates longer WT1 isoforms., [RefSeq, PubMed]; WT1 gene exhibits complex tissue-specific and polymorphic imprinting pattern., [RefSeq, PubMed]; WT1 gene is expressed from the paternal allele in fibroblasts and lymphocytes., [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": 8, "reported_glycation": 0, "reported_snv": 1, "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": "A8K6S1;B3KSA5;Q15881;Q16256;Q16575;Q4VXV4;Q4VXV5;Q4VXV6;Q8IYZ5", "ec_number_list": "", "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0003723 RNA binding;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_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0003156 regulation of animal organ formation;GO:0007530 sex determination;GO:0035802 adrenal cortex formation;GO:2000020 positive regulation of male gonad development;GO:0072302 negative regulation of metanephric glomerular mesangial cell proliferation", "synthesized_glycan_count": 0, "hit_score": 14.2, "record_id": "P19544-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q4G0X4-1", "uniprot_id": "KCD21_HUMAN", "mass": 29643.0, "length": 260, "protein_name": "BTB/POZ domain-containing protein KCTD21", "gene_name": "KCTD21", "organism": "Human", "refseq_name": "BTB/POZ domain-containing protein KCTD21", "refseq_ac": "NP_001025030", "gene_names_uniprotkb": "KCTD21", "gene_names_refseq": "KCASH2; KCTD21", "protein_names_uniprotkb": "BTB/POZ domain-containing protein KCTD21; KCASH2 protein; Potassium channel tetramerization domain-containing protein 21", "protein_names_refseq": "BTB/POZ domain-containing protein KCTD21; potassium channel tetramerisation domain containing 21; potassium channel tetramerization domain-containing protein 21", "tax_id": 9606, "disease": "", "pathway": " (hsa:283219)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11237011;21472142;25892735;26992070;28832583;29242379;29493099;29557506;29786170;30379171;31844290;32157095;32938616;33298915;33912179;33968037;35051231;35580925;36284347", "class_list": "", "function": "Probable substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex mediating the ubiquitination and subsequent proteasomal degradation of target proteins. Promotes the ubiquitination of HDAC1. Can function as antagonist of the Hedgehog pathway by affecting the nuclear transfer of transcription factor GLI1; the function probably occurs via HDAC1 down-regulation, keeping GLI1 acetylated and inactive. Inhibits cell growth and tumorigenicity of medulloblastoma (MDB) (PubMed:21472142)., [UniProtKB, PubMed]; Rescuing KCASHs expression reduces the Hedgehog-dependent medulloblastoma growth, suggesting that loss of members of this novel family of native HDAC inhibitors is crucial in sustaining Hh pathway-mediated tumorigenesis., [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": 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": "B4DTR0", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0042826 histone deacetylase binding;GO:0097602 cullin family protein binding", "go_cellular_component": "", "go_biological_process": "GO:0051260 protein homooligomerization;GO:0016567 protein ubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0045879 negative regulation of smoothened signaling pathway", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q4G0X4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96NJ5-1", "uniprot_id": "KLH32_HUMAN", "mass": 70362.0, "length": 620, "protein_name": "Kelch-like protein 32", "gene_name": "KLHL32", "organism": "Human", "refseq_name": "kelch-like protein 32 isoform b", "refseq_ac": "NP_001273179", "gene_names_uniprotkb": "KLHL32; BKLHD5; KIAA1900", "gene_names_refseq": "BKLHD5; KIAA1900; KLHL32; UG0030H05; dJ21F7.1", "protein_names_uniprotkb": "Kelch-like protein 32; BTB and kelch domain-containing protein 5", "protein_names_refseq": "BTB and kelch domain containing 5; kelch-like protein 32 isoform b; kelch-like protein 32", "tax_id": 9606, "disease": "", "pathway": " (hsa:114792)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;25892735;28904123;32157095;33968037;34185709;34561969;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": 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": "B7Z346;B7Z4E2;E1P528;Q5THT0;Q96PY7", "ec_number_list": "", "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0031463 Cul3-RING ubiquitin ligase complex", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q96NJ5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q53GT1-1", "uniprot_id": "KLH22_HUMAN", "mass": 71667.0, "length": 634, "protein_name": "Kelch-like protein 22", "gene_name": "KLHL22", "organism": "Human", "refseq_name": "kelch-like protein 22", "refseq_ac": "NP_116164", "gene_names_uniprotkb": "KLHL22", "gene_names_refseq": "KELCHL; KLHL22", "protein_names_uniprotkb": "Kelch-like protein 22", "protein_names_refseq": "kelch-like 22; kelch-like protein 22", "tax_id": 9606, "disease": "", "pathway": " (hsa:84861); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 192, "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;18477386;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;19995937;21447816;21463634;21778237;21863050;21940857;22223895;22306028;22466964;22537386;2261476;22959436;23186163;23201271;23333871;23401859;23453757;23455478;23481700;23535662;23535663;23563313;23583660;23912815;23986495;24067371;24076655;24366543;24636985;24714562;24715725;24793695;24793696;25314029;25349211;25355947;25418920;25505266;25531226;25576301;25645385;25892735;26344709;26460955;26632597;26811146;26906416;26992070;27030794;27222660;27543614;27565346;27846572;27862975;27920218;28115426;28228285;28493397;28832583;28834231;28904123;29153394;29242379;29393594;29493099;29508533;29557506;29769354;29769719;29786170;30315122;30410026;30429286;30524438;30610225;31844290;32005965;32157095;32284348;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33444648;33592498;33717175;33912179;33968037;34171305;34357683;34509645;34932366;35051231;35318648;35561310;35580925;36010968;36284347;37217939;37938771;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex required for chromosome alignment and localization of PLK1 at kinetochores. The BCR(KLHL22) ubiquitin ligase complex mediates monoubiquitination of PLK1, leading to PLK1 dissociation from phosphoreceptor proteins and subsequent removal from kinetochores, allowing silencing of the spindle assembly checkpoint (SAC) and chromosome segregation. Monoubiquitination of PLK1 does not lead to PLK1 degradation (PubMed:19995937, PubMed:23455478). The BCR(KLHL22) ubiquitin ligase complex is also responsible for the amino acid-stimulated 'Lys-48' polyubiquitination and proteasomal degradation of DEPDC5. Through the degradation of DEPDC5, releases the GATOR1 complex-mediated inhibition of the TORC1 pathway. It is therefore an amino acid-dependent activator within the amino acid-sensing branch of the TORC1 pathway, indirectly regulating different cellular processes including cell growth and autophagy (PubMed:29769719)., [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": 4, "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": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K3Q4;A8MTV3;B7Z2G1;D3DX30;Q96B68;Q96KC6", "ec_number_list": "", "go_molecular_function": "GO:0071889 14-3-3 protein binding;GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005764 lysosome", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling;GO:0002842 positive regulation of T cell mediated immune response to tumor cell;GO:0030307 positive regulation of cell growth;GO:0051301 cell division;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 19.5, "record_id": "Q53GT1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3SYF9-1", "uniprot_id": "KR197_HUMAN", "mass": 6644.0, "length": 63, "protein_name": "Keratin-associated protein 19-7", "gene_name": "KRTAP19-7", "organism": "Human", "refseq_name": "keratin-associated protein 19-7", "refseq_ac": "NP_853645", "gene_names_uniprotkb": "KRTAP19-7; KAP19.7", "gene_names_refseq": "KAP19.7; KRTAP19-7", "protein_names_uniprotkb": "Keratin-associated protein 19-7", "protein_names_refseq": "keratin-associated protein 19-7", "tax_id": 9606, "disease": "", "pathway": " (hsa:337974); (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": 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": "Q08EP7", "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": "Q3SYF9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60346-1", "uniprot_id": "PHLP1_HUMAN", "mass": 184672.0, "length": 1717, "protein_name": "PH domain leucine-rich repeat-containing protein phosphatase 1", "gene_name": "PHLPP1", "organism": "Human", "refseq_name": "PH domain leucine-rich repeat-containing protein phosphatase 1", "refseq_ac": "NP_919431", "gene_names_uniprotkb": "PHLPP1; KIAA0606; PHLPP; PLEKHE1; SCOP", "gene_names_refseq": "PHLPP1; PHLPP; PLEKHE1; PPM3A; SCOP", "protein_names_uniprotkb": "PH domain leucine-rich repeat-containing protein phosphatase 1; 3.1.3.16; PH domain-containing family E member 1; Pleckstrin homology domain-containing family E member 1; Suprachiasmatic nucleus circadian oscillatory protein; hSCOP", "protein_names_refseq": "PH domain leucine-rich repeat-containing protein phosphatase 1; PH domain-containing family E member 1; SCN circadian oscillatory protein; pleckstrin homology domain containing, family E (with leucine rich repeats) member 1; protein phosphatase, Mg2+/Mn2+ dependent 3A; suprachiasmatic nucleus circadian oscillatory protein", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283)", "pathway": " (hsa:23239); (R-HSA-199418)", "pathway_count": 2, "publication_count": 79, "publication_id_list": "11237011;11598301;12791994;15808505;17081983;17386267;18162466;18507432;19079341;19732725;19797085;20513427;20861921;21461637;21701506;21804599;21986499;23186163;24145035;24530606;24714562;24715725;24892992;25576301;25645385;25820252;25892735;26154972;26758079;26992070;27600516;27846572;27920218;28218747;28228285;28514659;28832583;28904123;29242379;29393594;29557506;29769354;29786170;30379171;30429286;30459171;30484775;30833945;31154438;31530632;31844290;31848261;32157095;32350084;32387766;32488085;32938616;32983136;33123756;33141586;33298915;33592498;33717175;33912179;33936100;33968037;34171305;34509645;35051231;35251023;35580925;36010968;36215666;36241641;36581221;37541260;38602289;39349089;40168118", "class_list": "", "function": "Increased abundance of PHLPP-1, production of which is regulated by insulin, may represent a new molecular defect in insulin-resistant states such as obesity., [RefSeq, PubMed]; Loss of PHLPP expression is associated with colon cancer., [RefSeq, PubMed]; Mechanism to selectively terminate Akt-signaling pathways through the differential inactivation of specific Akt isoforms by specific PHLPP isoforms., [RefSeq, PubMed]; Phlpp1 alters the murine chondrocyte phospho-proteome during endochondral bone formation., [RefSeq, PubMed]; Pleckstrin Homology Domain Leucine-rich Repeat Protein Phosphatase Acts as a Tumor Suppressor in Oral Squamous Cell Carcinoma., [RefSeq, PubMed]; Protein phosphatase involved in regulation of Akt and PKC signaling. Mediates dephosphorylation in the C-terminal domain hydrophobic motif of members of the AGC Ser/Thr protein kinase family; specifically acts on 'Ser-473' of AKT2 and AKT3, 'Ser-660' of PRKCB and 'Ser-657' of PRKCA (PubMed:15808505, PubMed:17386267, PubMed:18162466). Isoform 2 seems to have a major role in regulating Akt signaling in hippocampal neurons (By similarity). Akt regulates the balance between cell survival and apoptosis through a cascade that primarily alters the function of transcription factors that regulate pro- and antiapoptotic genes. Dephosphorylation of 'Ser-473' of Akt triggers apoptosis and suppression of tumor growth. Dephosphorylation of PRKCA and PRKCB leads to their destabilization and degradation (PubMed:18162466). Dephosphorylates STK4 on 'Thr-387' leading to STK4 activation and apoptosis (PubMed:20513427). Dephosphorylates RPS6KB1 and is involved in regulation of cap-dependent translation (PubMed:21986499). Inhibits cancer cell proliferation and may act as a tumor suppressor (PubMed:19079341). Dephosphorylates RAF1 inhibiting its kinase activity (PubMed:24530606). May act as a negative regulator of K-Ras signaling in membrane rafts (By similarity). Involved in the hippocampus-dependent long-term memory formation (By similarity). Involved in circadian control by regulating the consolidation of circadian periodicity after resetting (By similarity). Involved in development and function of regulatory T-cells (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Reduced expression of the tumor suppressor PHLPP1 enhances the antiapoptotic B-cell receptor signal in chronic lymphocytic leukemia B-cells., [RefSeq, PubMed]; This gene encodes a member of the serine/threonine phosphatase family. The encoded protein promotes apoptosis by dephosphorylating and inactivating the serine/threonine kinase Akt, and functions as a tumor suppressor in multiple types of cancer. Increased expression of this gene may also play a role in obesity and type 2 diabetes by interfering with Akt-mediated insulin signaling. [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": 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": 1, "reported_glycation": 0, "reported_snv": 34, "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": "A1A4F5;Q641Q7;Q6P4C4;Q6PJI6;Q86TN6;Q96FK2;Q9NUY1", "ec_number_list": "3.1.3.16;3.1.3.48;3.1.3.-;2.7.11.1;3.1.3.67;3.1.3.53;3.1.3.52;3.1.3.27;3.1.3.86;3.1.3.36;3.1.3.74", "go_molecular_function": "GO:0004722 protein serine/threonine phosphatase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:1900744 regulation of p38MAPK cascade;GO:0035556 intracellular signal transduction;GO:0006915 apoptotic process;GO:0002667 regulation of T cell anergy;GO:0042981 regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "O60346-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92982-1", "uniprot_id": "NINJ1_HUMAN", "mass": 16345.0, "length": 152, "protein_name": "Ninjurin-1", "gene_name": "NINJ1", "organism": "Human", "refseq_name": "ninjurin-1", "refseq_ac": "NP_004139", "gene_names_uniprotkb": "NINJ1", "gene_names_refseq": "NIN1; NINJ1; NINJURIN; hNINJ1", "protein_names_uniprotkb": "Ninjurin-1; Nerve injury-induced protein 1; Soluble ninjurin-1; hNINJ1", "protein_names_refseq": "nerve injury-induced protein-1; ninjurin-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:4814)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "15464245;22162058;25880248;25892735;26677008;28228285;28832583;29242379;29769354;30429286;30484775;31092671;31154438;31530632;31844290;32147432;32488085;32502341;32883094;32938616;32983136;33028854;33472215;33592498;35051231;35318648;36468682;37196676;37198476;37858098;38396301;38614101;39667936;8780658;9261151;9465296", "class_list": "", "function": "Effector of various programmed cell death, such as pyroptosis and necroptosis, which mediates plasma membrane rupture (cytolysis) (PubMed:33472215, PubMed:36468682, PubMed:37196676, PubMed:37198476, PubMed:38614101, PubMed:39667936). Oligomerizes in response to death stimuli and forms ring-like structures on the plasma membrane: acts by cutting and shedding membrane disks, like a cookie cutter, leading to membrane damage and loss that cannot be repaired by the cell (PubMed:38614101). Plasma membrane rupture leads to release intracellular molecules named damage-associated molecular patterns (DAMPs) that propagate the inflammatory response (PubMed:33472215, PubMed:36468682, PubMed:37196676, PubMed:37198476). Mechanistically, mediates plasma membrane rupture by introducing hydrophilic faces of 2 alpha helices into the hydrophobic membrane (PubMed:37198476, PubMed:38614101). Induces plasma membrane rupture downstream of Gasdermin (GSDMA, GSDMB, GSDMC, GSDMD, or GSDME) or MLKL during pyroptosis or necroptosis, respectively (PubMed:33472215, PubMed:36468682, PubMed:37196676, PubMed:37198476). Acts as an effector of PANoptosis downstream of CASP1, CASP4, CASP8 and RIPK3 (By similarity). Also induces plasma membrane rupture in response to cell swelling caused by osmotic stress and ferroptosis downstream of lipid peroxidation (By similarity). Acts as a regulator of Toll-like receptor 4 (TLR4) signaling triggered by lipopolysaccharide (LPS) during systemic inflammation; directly binds LPS (PubMed:26677008). Involved in leukocyte migration during inflammation by promoting transendothelial migration of macrophages via homotypic binding (By similarity). Promotes the migration of monocytes across the brain endothelium to central nervous system inflammatory lesions (PubMed:22162058). Also acts as a homophilic transmembrane adhesion molecule involved in various processes such as axonal growth, cell chemotaxis and angiogenesis (PubMed:33028854, PubMed:8780658, PubMed:9261151). Promotes cell adhesion by mediating homophilic interactions via its extracellular N-terminal adhesion motif (N-NAM) (PubMed:33028854, PubMed:8780658, PubMed:9261151). Involved in the progression of the inflammatory stress by promoting cell-to-cell interactions between immune cells and endothelial cells (PubMed:22162058, PubMed:26677008, PubMed:32147432). Plays a role in nerve regeneration by promoting maturation of Schwann cells (PubMed:8780658, PubMed:9261151). Acts as a regulator of angiogenesis (PubMed:33028854). Promotes the formation of new vessels by mediating the interaction between capillary pericyte cells and endothelial cells (By similarity). Promotes osteoclasts development by enhancing the survival of prefusion osteoclasts (By similarity). Also involved in striated muscle growth and differentiation (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Ninjurin1 is able to induce the senescence program. Ninjurin1 may be involved in the regulation of cellular senescence in the liver during carcinogenesis., [RefSeq, PubMed]; Secreted form generated by cleavage, which has chemotactic activity (By similarity). Acts as an anti-inflammatory mediator by promoting monocyte recruitment, thereby ameliorating atherosclerosis (PubMed:32883094)., [UniProtKB, PubMed, UniProtKB]; The ninjurin protein is upregulated after nerve injury both in dorsal root ganglion neurons and in Schwann cells (Araki and Milbrandt, 1996 [PubMed 8780658]). It demonstrates properties of a homophilic adhesion molecule and promotes neurite outgrowth from primary cultured dorsal root ganglion neurons.[supplied by OMIM, Aug 2009]., [RefSeq]; Tomo-seq identifies NINJ1 as a potential target for anti-inflammatory strategy in thoracic aortic dissection. Publication Status: Online-Only, [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": 2, "reported_mutagensis": 30, "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": "Q6GU89;Q8WUV5;Q9BT07", "ec_number_list": "", "go_molecular_function": "GO:0001530 lipopolysaccharide binding;GO:0098632 cell-cell adhesion mediator activity;GO:0098631 cell adhesion mediator activity;GO:0140912 membrane destabilizing activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0097060 synaptic membrane", "go_biological_process": "GO:0001525 angiogenesis;GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0051260 protein homooligomerization;GO:0045766 positive regulation of angiogenesis", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q92982-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O00592-1", "uniprot_id": "PODXL_HUMAN", "mass": 58635.0, "length": 558, "protein_name": "Podocalyxin", "gene_name": "PODXL", "organism": "Human", "refseq_name": "podocalyxin isoform 1 precursor", "refseq_ac": "NP_001018121", "gene_names_uniprotkb": "PODXL; PCLP1; PCLP", "gene_names_refseq": "Gp200; PCLP-1; PCLP; PC; PDX; PODXL1; PODXL; gp135", "protein_names_uniprotkb": "Podocalyxin; GCTM-2 antigen; Gp200; PCLP-1; PC; Podocalyxin-like protein 1", "protein_names_refseq": "GCTM-2 antigen; podocalyxin isoform 1 precursor; podocalyxin-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:5420)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "40667337;10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;11237011;12504081;17616675;18452278;18456258;18669648;19664994;20068231;21406692;23584533;24190977;25813380;29242379;29314611;29557506;29741879;30429286;30459171;31020640;32157095;32350084;32574038;32938616;33214551;33936100;33968037;34019948;34087483;35051231;35251023;35284933;35705054;36215666;37074911;38553472;40307207;9188463", "class_list": "", "function": "Involved in the regulation of both adhesion and cell morphology and cancer progression. Functions as an anti-adhesive molecule that maintains an open filtration pathway between neighboring foot processes in the podocyte by charge repulsion. Acts as a pro-adhesive molecule, enhancing the adherence of cells to immobilized ligands, increasing the rate of migration and cell-cell contacts in an integrin-dependent manner. Induces the formation of apical actin-dependent microvilli. Involved in the formation of a preapical plasma membrane subdomain to set up initial epithelial polarization and the apical lumen formation during renal tubulogenesis. Plays a role in cancer development and aggressiveness by inducing cell migration and invasion through its interaction with the actin-binding protein EZR. Affects EZR-dependent signaling events, leading to increased activities of the MAPK and PI3K pathways in cancer cells., [UniProtKB, PubMed, PubMed]; Podocalyxin molecular characteristics and endometrial expression: high conservation between humans and macaques but divergence in micedagger., [RefSeq, PubMed]; Podocalyxin promotes the formation of compact and chemoresistant cancer spheroids in high grade serous carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the sialomucin protein family. The encoded protein was originally identified as an important component of glomerular podocytes. Podocytes are highly differentiated epithelial cells with interdigitating foot processes covering the outer aspect of the glomerular basement membrane. Other biological activities of the encoded protein include: binding in a membrane protein complex with Na+/H+ exchanger regulatory factor to intracellular cytoskeletal elements, playing a role in hematopoetic cell differentiation, and being expressed in vascular endothelium cells and binding to L-selectin. [provided by RefSeq, Jul 2008]., [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": 4, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 79, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 79, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 79, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 110, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 66, "disease_count": 0, "glyco_site_count": 86, "binding_glycan_count": 0, "secondary_ac_list": "A6NHX8;Q52LZ7;Q53ER6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0030027 lamellipodium;GO:0045121 membrane raft", "go_biological_process": "GO:0072175 epithelial tube formation;GO:0007155 cell adhesion;GO:0007162 negative regulation of cell adhesion;GO:0016477 cell migration;GO:0030335 positive regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 19.1, "record_id": "O00592-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96SI9-1", "uniprot_id": "STRBP_HUMAN", "mass": 73653.0, "length": 672, "protein_name": "Spermatid perinuclear RNA-binding protein", "gene_name": "STRBP", "organism": "Human", "refseq_name": "spermatid perinuclear RNA-binding protein isoform 2", "refseq_ac": "NP_001164608", "gene_names_uniprotkb": "STRBP; SPNR", "gene_names_refseq": "HEL162; ILF3L; SPNR; STRBP; p74", "protein_names_uniprotkb": "Spermatid perinuclear RNA-binding protein", "protein_names_refseq": "epididymis luminal protein 162; epididymis secretory sperm binding protein; spermatid perinuclear RNA-binding protein isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:55342)", "pathway_count": 1, "publication_count": 77, "publication_id_list": "11230166;11237011;16959974;17697703;19413330;20068231;22121020;23481700;24715725;25505266;25576301;25892735;26375851;26992070;27600516;27846572;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29437277;29508533;29557506;29632711;29786170;30315122;30397120;30410026;30429286;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32357974;32387766;32502341;32897882;32938616;32983136;33214551;33298915;33592498;33691108;33717175;33912179;33968037;34019948;34087483;34171305;34185709;34211107;34357683;34509645;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;37217939;38280476;38340945;39534244;40914422", "class_list": "", "function": "CircSTRBP contributes to H2O2-induced lens epithelium cell dysfunction through increasing NOX4 mRNA stability by recruiting IGF2BP1., [RefSeq, PubMed]; Involved in spermatogenesis and sperm function. Plays a role in regulation of cell growth. Binds to double-stranded DNA and RNA. Binds most efficiently to poly(I:C) RNA than to poly(dI:dC) DNA. Binds also to single-stranded poly(G) RNA. Binds non-specifically to the mRNA PRM1 3'-UTR and adenovirus VA RNA (By similarity)., [UniProtKB]; Spermatid perinuclear RNA-binding protein promotes UBR5-mediated proteolysis of Dicer to accelerate triple-negative breast cancer 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": 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": 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": "Q32NB9;Q9BUE1;Q9BXG4;Q9H0B4;Q9H7V1;Q9NUK4", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0008017 microtubule binding;GO:0003725 double-stranded RNA binding;GO:0003727 single-stranded RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0002177 manchette", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q96SI9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y4P9-1", "uniprot_id": "SPEF1_HUMAN", "mass": 26987.0, "length": 236, "protein_name": "Sperm flagella and cilia-associated protein 1", "gene_name": "SPEF1", "organism": "Human", "refseq_name": "sperm flagellar protein 1", "refseq_ac": "NP_056232", "gene_names_uniprotkb": "SPEF1; C20orf28", "gene_names_refseq": "C20orf28; CLAMP; SPEF1A; SPEF1", "protein_names_uniprotkb": "Sperm flagella and cilia-associated protein 1", "protein_names_refseq": "calponin-homology and microtubule-associated protein; sperm flagellar 1; sperm flagellar protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:25876)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11230166;15979255;16206169;24715725;29557506;31473225;33968037;35710871;39894887", "class_list": "", "function": "A.k.a. Spef1 (sperm flagella) and CLAMP (CaLponin-homology And Microtubule associated Protein) CLAMP/Spef1 expression also in brain, lung, and inner ear MT association of CLAMP requires the CH domain, which has highest similarity with EB family proteins Erratum:[Cell Motil Cytoskeleton. 2005 Dec;62(4):259], [RefSeq, PubMed]; Microtubule-associated protein involved in the stabilization of microtubules along the axis of migration during radial intercalation. Promotes the establishment and stabilization of an axis of microtubules required for the active migration of cells into the outer epithelium (By similarity). Microtubule-associated protein that promotes microtubule bundling and stabilizes microtubules against depolymerization in response to cold shock (By similarity). Essential for ciliary central apparatus formation which requires both its microtubule-binding and bundling activities and for ciliary localization of HYDIN and SPAG6 in ependymal cilia (By similarity). Binds actin in intestinal epithelial cells (IECs), essential for IECs survival and contributes to formation of filopodia and lamellipodia in migrating IECs (PubMed:31473225). Regulates planar cell polarity signaling pathway and asymmetric microtubule accumulation in ciliated epithelia (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed]; Spef1/CLAMP binds microtubules and actin-based structures and regulates cell migration and epithelia cell polarity. Review article, [RefSeq, PubMed]; Sperm flagellar 1 (also called CLAMP) is an actin-binding protein, rather than a microtubule-binding protein, in intestinal epithelial cells (IECs). CLAMP distribution changes during intestinal epithelial cell polarization, regulates the formation of filopodia, and appears to assist in the organization of actin bundles within lamellipodia of migrating IECs., [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": "A5YM71;D3DVY0;Q5JX78", "ec_number_list": "", "go_molecular_function": "GO:0003779 actin binding;GO:0008017 microtubule binding", "go_cellular_component": "GO:1990716 axonemal central apparatus;GO:0005737 cytoplasm;GO:0005874 microtubule;GO:0016323 basolateral plasma membrane;GO:0030027 lamellipodium", "go_biological_process": "GO:2000095 regulation of Wnt signaling pathway, planar cell polarity pathway;GO:1904158 axonemal central apparatus assembly;GO:0016477 cell migration;GO:0046847 filopodium assembly;GO:0030032 lamellipodium assembly", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9Y4P9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P35590-1", "uniprot_id": "TIE1_HUMAN", "mass": 125090.0, "length": 1138, "protein_name": "Tyrosine-protein kinase receptor Tie-1", "gene_name": "TIE1", "organism": "Human", "refseq_name": "tyrosine-protein kinase receptor Tie-1 isoform 1 precursor", "refseq_ac": "NP_005415", "gene_names_uniprotkb": "TIE1; TIE", "gene_names_refseq": "JTK14; LMPHM11; TIE1; TIE", "protein_names_uniprotkb": "Tyrosine-protein kinase receptor Tie-1; 2.7.10.1", "protein_names_refseq": "tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1; tyrosine-protein kinase receptor Tie-1 isoform 1 precursor; tyrosine-protein kinase receptor Tie-1", "tax_id": 9606, "disease": "hereditary lymphedema (Disease Ontology:DOID:0050580); lymphatic malformation 11 (MONDO:MONDO:0030316)", "pathway": " (hsa:7075)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "11237011;1312667;15340161;15851516;17344846;18593464;20068231;20227369;23090970;24190977;24715725;26154972;27862975;29242379;29557506;30429286;30620550;31154438;31844290;31848261;32157095;32947856;33968037;35051231;36010968;36814284;37074911;37096293;38254961;38617545;38820174", "class_list": "", "function": "Cerebrospinal Fluid C1-Esterase Inhibitor and Tie-1 Levels Affect Cognitive Performance: Evidence from Proteome-Wide Mendelian Randomization. Publication Status: Online-Only, [RefSeq, PubMed]; FLI1 regulates radiotherapy resistance in nasopharyngeal carcinoma through TIE1-mediated PI3K/AKT signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Loss-of-function mutations of the TIE1 receptor tyrosine kinase cause late-onset primary lymphedema. Publication Status: Online-Only, [RefSeq, PubMed]; Possible biallelic inheritance in TIE1 in a family with congenital lymphedema, intestinal lymphangiectasia and cutis aplasia., [RefSeq, PubMed]; TIE1 promotes cervical cancer progression via Basigin-matrix metalloproteinase axis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the tyrosine protein kinase family. The encoded protein plays a critical role in angiogenesis and blood vessel stability by inhibiting angiopoietin 1 signaling through the endothelial receptor tyrosine kinase Tie2. Ectodomain cleavage of the encoded protein relieves inhibition of Tie2 and is mediated by multiple factors including vascular endothelial growth factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]., [RefSeq]; Transmembrane tyrosine-protein kinase that may modulate TEK/TIE2 activity and contribute to the regulation of angiogenesis., [UniProtKB, 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": 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": 43, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 2, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B5A949;B5A950", "ec_number_list": "2.7.12.2;2.7.10.1;2.7.10.2;2.7.11.1;2.7.12.1;2.7.1.40;2.7.1.32;2.7.1.82;2.7.10.4;2.7.11.13;2.7.11.23", "go_molecular_function": "GO:0005524 ATP binding;GO:0004714 transmembrane receptor protein tyrosine kinase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043235 receptor complex", "go_biological_process": "GO:0001525 angiogenesis;GO:0001570 vasculogenesis;GO:0007165 signal transduction;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0045766 positive regulation of angiogenesis", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "P35590-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P40238-1", "uniprot_id": "TPOR_HUMAN", "mass": 71245.0, "length": 635, "protein_name": "Thrombopoietin receptor", "gene_name": "MPL", "organism": "Human", "refseq_name": "thrombopoietin receptor precursor", "refseq_ac": "NP_005364", "gene_names_uniprotkb": "MPL; TPOR", "gene_names_refseq": "C-MPL; CD110; MPLV; MPL; THCYT2; THPOR; TPOR", "protein_names_uniprotkb": "Thrombopoietin receptor; Myeloproliferative leukemia protein; Proto-oncogene c-Mpl; TPO-R", "protein_names_refseq": "TPO-R; myeloproliferative leukemia protein; myeloproliferative leukemia virus oncogene; proto-oncogene c-Mpl; thrombopoietin receptor precursor; thrombopoietin receptor", "tax_id": 9606, "disease": "congenital amegakaryocytic thrombocytopenia 1 (Disease Ontology:DOID:0061005); congenital amegakaryocytic thrombocytopenia (Disease Ontology:DOID:0090118); thrombocytopenia (Disease Ontology:DOID:1588); hepatitis C (Disease Ontology:DOID:1883); hepatitis B (Disease Ontology:DOID:2043); essential thrombocythemia (Disease Ontology:DOID:2224); thrombocytosis (Disease Ontology:DOID:2228); myelofibrosis (Disease Ontology:DOID:4971); myeloid leukemia (Disease Ontology:DOID:8692)", "pathway": " (hsa:4352); (R-HSA-76009)", "pathway_count": 2, "publication_count": 60, "publication_id_list": "10391209;11237011;11784712;12855811;14764528;15269348;15899890;1608974;16470591;16834459;16868251;17408465;17709604;17889678;18464114;18769448;18818701;19194467;19413330;19483125;19521067;19643476;19713221;19880496;19996410;20062088;20823136;20890078;21326037;21850230;22649382;23049357;23359764;23441089;23970983;23994117;24385746;24607955;24715725;25525531;25538044;25621045;25970554;26031522;26154972;27519934;27862975;28406068;28832583;29393594;29557506;29741879;29950234;32029621;35051231;37633268;37939832;38111518;8020956;9122198", "class_list": "", "function": "Activation of JAK-STAT signaling via a somatic activating mutation in the transmembrane domain of MPL (MPLW515L) is an important pathogenetic event in patients with JAK2V617F-negative MF., [RefSeq, PubMed]; Germline MPL mutations may be a rare cause of 'triple-negative' thrombocytosis., [RefSeq, PubMed]; In 1990 an oncogene, v-mpl, was identified from the murine myeloproliferative leukemia virus that was capable of immortalizing bone marrow hematopoietic cells from different lineages. In 1992 the human homologue, named, c-mpl, was cloned. Sequence data revealed that c-mpl encoded a protein that was homologous with members of the hematopoietic receptor superfamily. Presence of anti-sense oligodeoxynucleotides of c-mpl inhibited megakaryocyte colony formation. The ligand for c-mpl, thrombopoietin, was cloned in 1994. Thrombopoietin was shown to be the major regulator of megakaryocytopoiesis and platelet formation. The protein encoded by the c-mpl gene, CD110, is a 635 amino acid transmembrane domain, with two extracellular cytokine receptor domains and two intracellular cytokine receptor box motifs . TPO-R deficient mice were severely thrombocytopenic, emphasizing the important role of CD110 and thrombopoietin in megakaryocyte and platelet formation. Upon binding of thrombopoietin CD110 is dimerized and the JAK family of non-receptor tyrosine kinases, as well as the STAT family, the MAPK family, the adaptor protein Shc and the receptors themselves become tyrosine phosphorylated. [provided by RefSeq, Jul 2008]., [RefSeq]; JAK2, CALR, and MPL Mutation Profiles in Colombian patients with BCR-ABL Negative Myeloproliferative Neoplasms. Publication Status: Online-Only, [RefSeq, PubMed]; MPL mutation in myelofibrosis characterises patients with more severe anaemic phenotype, [RefSeq, PubMed]; MPLW515L or MPLW515K mutations are present in patients with MMM or ET at a frequency of approximately 5% and 1%, respectively, but are not observed in patients with polycythemia vera (PV) or other myeloid disorders GeneRIF: Observational study of genotype prevalence. (HuGE Navigator), [RefSeq, PubMed]; Receptor for thrombopoietin that regulates hematopoietic stem cell renewal, megakaryocyte differentiation, and platelet formation. Upon activation by THPO, induces rapid tyrosine phosphorylation and activation of JAK2, providing docking sites for many signaling proteins such as STAT5, SHIP/INPP5D, GRB2, SOS1 and PI3K (PubMed:15899890, PubMed:37633268). In turn, These signaling cascades lead to the proliferation, survival, and differentiation of megakaryocytes, ultimately leading to increased platelet production., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "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": 3, "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": 3, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 3, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 36, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 1, "disease_count": 9, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q5JUZ0", "ec_number_list": "", "go_molecular_function": "GO:0038164 thrombopoietin receptor activity;GO:0004896 cytokine receptor activity", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0043025 neuronal cell body;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0071456 cellular response to hypoxia;GO:0030220 platelet formation;GO:0001780 neutrophil homeostasis;GO:0038163 thrombopoietin-mediated signaling pathway;GO:0035702 monocyte homeostasis", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "P40238-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96I27-1", "uniprot_id": "ZN625_HUMAN", "mass": 34746.0, "length": 306, "protein_name": "Zinc finger protein 625", "gene_name": "ZNF625-ZNF20; ZNF625", "organism": "Human", "refseq_name": "zinc finger protein 625", "refseq_ac": "NP_660276", "gene_names_uniprotkb": "ZNF625-ZNF20; ZNF625; ZNF625", "gene_names_refseq": "ZNF625", "protein_names_uniprotkb": "Zinc finger protein 625", "protein_names_refseq": "zinc finger protein 625", "tax_id": 9606, "disease": "", "pathway": " (hsa:90589); (R-HSA-212436)", "pathway_count": 2, "publication_count": 17, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;27893789;32938616;33968037;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [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": "A4FU45;I3L0E9", "ec_number_list": "", "go_molecular_function": "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_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": 1.8, "record_id": "Q96I27-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y463-1", "uniprot_id": "DYR1B_HUMAN", "mass": 69198.0, "length": 629, "protein_name": "Dual specificity tyrosine-phosphorylation-regulated kinase 1B", "gene_name": "DYRK1B", "organism": "Human", "refseq_name": "dual specificity tyrosine-phosphorylation-regulated kinase 1B isoform p69", "refseq_ac": "NP_004705", "gene_names_uniprotkb": "DYRK1B; MIRK", "gene_names_refseq": "AOMS3; DYRK1B; MIRK", "protein_names_uniprotkb": "Dual specificity tyrosine-phosphorylation-regulated kinase 1B; 2.7.12.1; Minibrain-related kinase; Mirk protein kinase", "protein_names_refseq": "dual specificity tyrosine-(Y)-phosphorylation regulated kinase 1B; dual specificity tyrosine-phosphorylation-regulated kinase 1B isoform p69; minibrain-related kinase; mirk protein kinase", "tax_id": 9606, "disease": "syndromic intellectual disability (Disease Ontology:DOID:0050888); abdominal obesity-metabolic syndrome 3 (Disease Ontology:DOID:0060612); Tietz syndrome (Disease Ontology:DOID:0090002); ocular albinism with sensorineural deafness (Disease Ontology:DOID:0090100); Waardenburg syndrome type 1 (Disease Ontology:DOID:0110948); Waardenburg syndrome type 2A (Disease Ontology:DOID:0110950); intellectual disability (Disease Ontology:DOID:1059); osteopetrosis (Disease Ontology:DOID:13533); Tietze's syndrome (Disease Ontology:DOID:14021); Down syndrome (Disease Ontology:DOID:14250); melanoma (Disease Ontology:DOID:1909); lysosomal storage disease (Disease Ontology:DOID:3211); Camurati-Engelmann disease (Disease Ontology:DOID:4997); familial melanoma (Disease Ontology:DOID:6846); Waardenburg syndrome (Disease Ontology:DOID:9258)", "pathway": " (hsa:9149)", "pathway_count": 1, "publication_count": 43, "publication_id_list": "10910078;11237011;11980910;12384504;14500717;14593110;15144186;17016520;17344846;18212344;18669648;19542220;19664995;19901323;22998443;24714562;24827035;26346493;26992070;27862975;28228285;28743892;28832583;28834231;28904123;29242379;29557506;29786170;30315122;31154438;31998317;32157095;32502341;32611815;32938616;33469661;33968037;35051231;36284347;38040123;38170957;39894887;9918863", "class_list": "", "function": "Activation by MKK2 and role as transcriptional activator of HNF1alpha Erratum:[J Biol Chem. 2004 Feb 6;279(6):5047], [RefSeq, PubMed]; Dual-specificity kinase which possesses both serine/threonine and tyrosine kinase activities. Plays an essential role in ribosomal DNA (rDNA) double-strand break repair and rDNA copy number maintenance (PubMed:33469661). During DNA damage, mediates transcription silencing in part via phosphorylating and enforcing DSB accumulation of the histone methyltransferase EHMT2 (PubMed:32611815). Enhances the transcriptional activity of TCF1/HNF1A and FOXO1. Inhibits epithelial cell migration. Mediates colon carcinoma cell survival in mitogen-poor environments. Inhibits the SHH and WNT1 pathways, thereby enhancing adipogenesis. In addition, promotes expression of the gluconeogenic enzyme glucose-6-phosphatase catalytic subunit 1 (G6PC1)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; P38 MAP Kinase suppresses the function of Mirk as a transcriptional activator only when cells are proliferating, [RefSeq, PubMed]; Pathogenic, Total Loss-of-Function DYRK1B Variants Cause Monogenic Obesity Associated With Type 2 Diabetes., [RefSeq, PubMed]; Targeting the survival kinase DYRK1B: A novel approach to overcome radiotherapy-related treatment resistance., [RefSeq, PubMed]; This gene encodes a member of a family of nuclear-localized protein kinases. The encoded protein participates in the regulation of the cell cycle. Expression of this gene may be altered in tumor cells, and mutations in this gene were found to cause abdominal obesity-metabolic syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 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": 13, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 13, "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": "O75258;O75788;O75789", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.10.1;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.32;2.7.1.82;2.7.10.4;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0004713 protein tyrosine kinase activity;GO:0005524 ATP binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005694 chromosome", "go_biological_process": "GO:0006281 DNA repair;GO:0006468 protein phosphorylation;GO:0060612 adipose tissue development;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q9Y463-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P2N6-1", "uniprot_id": "KANL3_HUMAN", "mass": 95992.0, "length": 904, "protein_name": "KAT8 regulatory NSL complex subunit 3", "gene_name": "KANSL3", "organism": "Human", "refseq_name": "KAT8 regulatory NSL complex subunit 3 isoform 1", "refseq_ac": "NP_001108488", "gene_names_uniprotkb": "KANSL3; KIAA1310; NSL3; PRTD; SI1", "gene_names_refseq": "KANSL3; KIAA1310; NSL3; Rcd1", "protein_names_uniprotkb": "KAT8 regulatory NSL complex subunit 3; NSL complex protein NSL3; Non-specific lethal 3 homolog; Serum inhibited-related protein; Testis development protein PRTD", "protein_names_refseq": "KAT8 regulatory NSL complex subunit 3 isoform 1; NSL complex protein NSL3; non-specific lethal 3 homolog; serum inhibited-related protein; testis development protein PRTD", "tax_id": 9606, "disease": "", "pathway": " (hsa:55683); (R-HSA-3214847); (R-HSA-9772755)", "pathway_count": 3, "publication_count": 171, "publication_id_list": "10786633;10821277;11230166;11237011;12393701;12482972;12670868;14636557;14992727;15199122;15313887;16227571;16239140;16387653;16543150;16829959;16878130;16892064;17355966;17500065;17612494;17671196;17925232;17998332;18381289;18598942;18623064;18669648;18829457;18829459;18838386;18838538;19103755;19124460;19187761;19187765;19556245;20018852;20068230;20305658;20575550;20716525;20961854;21106533;21124902;21131905;21135039;21220120;21740066;22266653;22327296;22652693;22665483;23186163;23301498;23481700;23508102;23995757;24244196;24368734;24680668;24715725;25561738;25576301;25593305;25645385;26154972;26243146;26324722;26375851;26886794;26992070;27397612;27563068;27698142;27760318;27768893;27846572;27920218;28182322;28218747;28228285;28398509;28450392;28657654;28832583;28834231;28904123;29138278;29237092;29242379;29351928;29393594;29437277;29485866;29493099;29508533;29557506;29632711;29786170;29897600;29937342;30059200;30315122;30379171;30410026;30429286;30524438;30620550;31217245;31400120;31485071;31492838;31544921;31844290;31881804;32157095;32350084;32387766;32488085;32502341;32574038;32897882;32938616;32938750;32983136;33141586;33214551;33298915;33392160;33592498;33657400;33691108;33936100;33968037;33981976;34012049;34019948;34087483;34171305;34185709;34211107;34509645;34846842;34933446;35033534;35051231;35132862;35138101;35190547;35251023;35254053;35289036;35439434;35580925;35705054;36010968;36215666;36241641;37340703;37541260;38253038;38665916;39302247;39531497;39534244;40307207;40596516;9427644;9558366;9880483", "class_list": "", "function": "Data suggest that O-GlcNAc transferase 1 (OGT1) specifically binds to, O-GlcNAcylates, and stabilizes nonspecific lethal protein3 (NSL3); stabilization of NSL3 by OGT1 up-regulates global acetylation levels of histone 4 at Lys-5, Lys-8, and Lys-16., [RefSeq, PubMed]; Microtubule minus-end-binding protein, essential for spindle assembly and chromosome segregation Publication Status: Online-Only, [RefSeq, PubMed]; Non-catalytic component of the NSL histone acetyltransferase complex, a multiprotein complex that mediates histone H4 acetylation at 'Lys-5'- and 'Lys-8' (H4K5ac and H4K8ac) at transcription start sites and promotes transcription initiation (PubMed:20018852, PubMed:33657400). The NSL complex also acts as a regulator of gene expression in mitochondria (PubMed:27768893). Within the NSL complex, KANSL3 is required to promote KAT8 association with mitochondrial DNA (PubMed:27768893). Required for transcription of intraciliary transport genes in both ciliated and non-ciliated cells (By similarity). This is necessary for cilium assembly in ciliated cells and for organization of the microtubule cytoskeleton in non-ciliated cells (By similarity). Also required within the NSL complex to maintain nuclear architecture stability by promoting KAT8-mediated acetylation of lamin LMNA (By similarity). Plays an essential role in spindle assembly during mitosis (PubMed:26243146). Acts as a microtubule minus-end binding protein which stabilizes microtubules and promotes their assembly (PubMed:26243146). Indispensable during early embryonic development where it is required for proper lineage specification and maintenance during peri-implantation development and is essential for implantation (By similarity)., [UniProtKB, UniProtKB, 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": 34, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 34, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 34, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 53, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 35, "binding_glycan_count": 0, "secondary_ac_list": "A1L184;D3DXH3;D3DXH4;Q05BU4;Q6P3X2;Q6PJH6;Q86T19;Q96L64;Q9H0C9;Q9H8C9;Q9HAP8;Q9NWE5", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0000922 spindle pole;GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0005874 microtubule;GO:0000123 histone acetyltransferase complex", "go_biological_process": "GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0045893 positive regulation of DNA-templated transcription;GO:0006325 chromatin organization;GO:1903108 regulation of mitochondrial transcription", "synthesized_glycan_count": 0, "hit_score": 20.7, "record_id": "Q9P2N6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IY34-1", "uniprot_id": "S15A3_HUMAN", "mass": 63560.0, "length": 581, "protein_name": "Solute carrier family 15 member 3", "gene_name": "SLC15A3", "organism": "Human", "refseq_name": "solute carrier family 15 member 3", "refseq_ac": "NP_057666", "gene_names_uniprotkb": "SLC15A3; OCTP; PHT2; PTR3", "gene_names_refseq": "OCTP; PHT2; PTR3; SLC15A3; hPHT2", "protein_names_uniprotkb": "Solute carrier family 15 member 3; Osteoclast transporter; Peptide transporter 3; Peptide/histidine transporter 2; hPHT2", "protein_names_refseq": "osteoclast transporter; peptide transporter 3; peptide/histidine transporter 2; solute carrier family 15 (oligopeptide transporter), member 3; solute carrier family 15 member 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:51296); (R-HSA-427975)", "pathway_count": 2, "publication_count": 54, "publication_id_list": "11237011;11741232;17897319;21366347;23481700;24715725;25502872;25576301;25892735;27862975;28218747;28228285;28467828;28514659;28904123;29242379;29437277;29508533;29769354;29786170;30069489;30315122;30484775;31073693;31154438;31217245;31254495;31844290;32157095;32350084;32357974;32387766;32488085;32938616;32983136;33043033;33123756;33298915;33912179;33968037;34087483;34171305;34357683;34433824;34509645;34932366;35051231;35154160;35580925;36284347;37610621;39719710;7896779;9299407", "class_list": "", "function": "Oligopeptide/Histidine Transporter PHT1 and PHT2 - Function, Regulation, and Pathophysiological Implications Specifically in Immunoregulation. Review article, [RefSeq, PubMed]; Our results demonstrate that SLC15A3 is induced by viral infection to participate in intracellular RNA and DNA receptor-mediated interferon production Publication Status: Online-Only, [RefSeq, PubMed]; PEPT1,PEPT2, PHT1, and PHT2 are expressed in human nasal epithelium., [RefSeq, PubMed]; Proton-coupled amino-acid transporter that transports free histidine and certain di- and tripeptides, and is involved in innate immune response. Preferably binds to short peptides with a basic residue at the first position and a hydrophobic residue at the second position. Also able to transport carnosine. Involved in the detection of microbial pathogens by toll-like receptors (TLRs) and NOD-like receptors (NLRs), probably by mediating transport of bacterial peptidoglycans across the endolysosomal membrane: catalyzes the transport of certain bacterial peptidoglycans, such as muramyl dipeptide (MDP), the NOD2 ligand., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Substrate Transport Properties of the Human Peptide/Histidine Transporter PHT2 in Transfected MDCK Cells., [RefSeq, PubMed]; The transporters PEPT2, PHT1, and PHT2 are responsible for the uptake of carnosine into glioblastoma cells and full function of all three transporters is required for maximum uptake., [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "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": "Q9P2X9", "ec_number_list": "", "go_molecular_function": "GO:0015333 peptide:proton symporter activity;GO:0071916 dipeptide transmembrane transporter activity;GO:0015647 peptidoglycan transmembrane transporter activity;GO:0015293 symporter activity", "go_cellular_component": "GO:0005765 lysosomal membrane;GO:0010008 endosome membrane;GO:0016020 membrane", "go_biological_process": "GO:0015031 protein transport;GO:0045087 innate immune response;GO:0035672 oligopeptide transmembrane transport;GO:0140206 dipeptide import across plasma membrane;GO:0070434 positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q8IY34-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y5A6-1", "uniprot_id": "ZSC21_HUMAN", "mass": 53658.0, "length": 473, "protein_name": "Zinc finger and SCAN domain-containing protein 21", "gene_name": "ZSCAN21", "organism": "Human", "refseq_name": "zinc finger and SCAN domain-containing protein 21 isoform 1", "refseq_ac": "NP_666019", "gene_names_uniprotkb": "ZSCAN21; ZFP38; ZNF38", "gene_names_refseq": "NY-REN-21; ZNF38; ZSCAN21; Zipro1", "protein_names_uniprotkb": "Zinc finger and SCAN domain-containing protein 21; Renal carcinoma antigen NY-REN-21; Zfp-38; Zinc finger protein 38 homolog", "protein_names_refseq": "renal carcinoma antigen NY-REN-21; zfp-38; zinc finger and SCAN domain-containing protein 21 isoform 1; zinc finger and SCAN domain-containing protein 21; zinc finger protein 38 (KOX 25); zinc finger protein 38 homolog; zinc finger protein NY-REN-21 antigen", "tax_id": 9606, "disease": "", "pathway": " (hsa:7589)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "10508479;11230166;11237011;16540086;25892735;26992070;27600516;28832583;28834231;29242379;29769354;30485814;32157095;32357974;32387766;32938616;32983136;35580925;36581221", "class_list": "", "function": "Deregulation of the TRIM17/TRIM41/ZSCAN21 pathway may be involved in the pathogenesis of Parkinson's disease., [RefSeq, PubMed]; Strong transcriptional activator (By similarity). Plays an important role in spermatogenesis; essential for the progression of meiotic prophase I in spermatocytes (By similarity)., [UniProtKB, UniProtKB]; This result indicates that NY-REN-21 can function either as a homodimer or as a heterodimer with SCAND1., [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": 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": "A4D2A6;D6W5T9;Q9H0B5", "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:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "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": 2.0, "record_id": "Q9Y5A6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96E93-1", "uniprot_id": "KLRG1_HUMAN", "mass": 21831.0, "length": 195, "protein_name": "Killer cell lectin-like receptor subfamily G member 1", "gene_name": "KLRG1", "organism": "Human", "refseq_name": "killer cell lectin-like receptor subfamily G member 1 isoform a", "refseq_ac": "NP_001316028", "gene_names_uniprotkb": "KLRG1; CLEC15A; MAFAL; MAFA", "gene_names_refseq": "2F1; CLEC15A; KLRG1; MAFA-2F1; MAFA-LIKE; MAFA-L; MAFA", "protein_names_uniprotkb": "Killer cell lectin-like receptor subfamily G member 1; C-type lectin domain family 15 member A; ITIM-containing receptor MAFA-L; MAFA-like receptor; Mast cell function-associated antigen", "protein_names_refseq": "C-type lectin domain family 15 member A; ITIM-containing receptor MAFA-L; MAFA-like receptor; killer cell lectin-like receptor subfamily G member 1 isoform a; killer cell lectin-like receptor subfamily G, member 1; mast cell function-associated antigen (ITIM-containing)", "tax_id": 9606, "disease": "", "pathway": " (hsa:10219); (R-HSA-198933)", "pathway_count": 2, "publication_count": 92, "publication_id_list": "10499918;10746781;11237011;11265639;11489943;11513152;11556966;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12393723;12483297;12588680;14719373;14970179;15034010;15136729;15155468;15187158;15304001;15534202;15541655;15580655;15607800;15778510;15781451;15800062;15851719;15864273;15879103;16014749;16091383;16129954;16339513;16380601;16551255;16737824;16754721;16893496;16904340;16928187;17045824;17057721;17237375;17337780;17617594;18031695;18037897;18055229;18209062;18234675;18593354;19149696;19359216;19592130;19604491;20730098;21241660;21800138;21841309;21877119;22396535;23695528;23929856;24190977;24305946;25703557;25716998;26284469;26300885;34846842;35051231;36096526;36876466;37741278;38652959;38776335;7531291;7542404;8178173;8995416;9285412;9314561;9700512;9730896;9765598;9842918", "class_list": "glycogene", "function": "Expression of HLA-DR and KLRG1 enhances the cytotoxic potential and cytokine secretion capacity of CD3[+] T cells in tuberculosis patients., [RefSeq, PubMed]; Human effector and memory T cells expressing KLRG1 lack proliferative capacity, [RefSeq, PubMed]; KLRG1 expression on natural killer cells is associated with HIV persistence, and its targeting promotes the reduction of the viral reservoir., [RefSeq, PubMed]; KLRG1 is reduced on NK cells in SLE patients, inversely correlates with disease activity and is modulated by hydroxychloroquine in vitro., [RefSeq, PubMed]; KLRG1-expressing CD8+ T cells are exhausted and polyfunctional in patients with chronic hepatitis B. Publication Status: Online-Only, [RefSeq, PubMed]; N-cadherin protects oral cancer cells from NK cell killing in the circulation by inducing NK cell functional exhaustion via the KLRG1 receptor., [RefSeq, PubMed]; Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. The protein encoded by this gene belongs to the killer cell lectin-like receptor (KLR) family, which is a group of transmembrane proteins preferentially expressed in NK cells. Studies in mice suggested that the expression of this gene may be regulated by MHC class I molecules. [provided by RefSeq, Jun 2016]., [RefSeq]; Plays an inhibitory role on natural killer (NK) cells and T-cell functions upon binding to their non-MHC ligands. May mediate missing self recognition by binding to a highly conserved site on classical cadherins, enabling it to monitor expression of E-cadherin/CDH1, N-cadherin/CDH2 and R-cadherin/CDH4 on target cells., [UniProtKB, 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": 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": 206, "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": "B7ZAM2;O43198;O75613", "ec_number_list": "", "go_molecular_function": "GO:0030246 carbohydrate binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006954 inflammatory response;GO:0007166 cell surface receptor signaling pathway;GO:0045087 innate immune response;GO:0006968 cellular defense response", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "Q96E93-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P07942-1", "uniprot_id": "LAMB1_HUMAN", "mass": 198038.0, "length": 1786, "protein_name": "Laminin subunit beta-1", "gene_name": "LAMB1", "organism": "Human", "refseq_name": "laminin subunit beta-1 precursor", "refseq_ac": "NP_002282", "gene_names_uniprotkb": "LAMB1", "gene_names_refseq": "CLM; LAMB1; LIS5; LKBMH; LUCAO", "protein_names_uniprotkb": "Laminin subunit beta-1; Laminin B1 chain; Laminin-1 subunit beta; Laminin-10 subunit beta; Laminin-12 subunit beta; Laminin-2 subunit beta; Laminin-6 subunit beta; Laminin-8 subunit beta", "protein_names_refseq": "laminin B1 chain; laminin subunit beta-1 precursor; laminin, beta 1", "tax_id": 9606, "disease": "adult-onset leukoencephalopathy without lacunae (Disease Ontology:DOID:0070722); leukoencephalopathy with variable cortical brain malformations and/or hydrocephalus (Disease Ontology:DOID:0112230); coloboma (Disease Ontology:DOID:12270); autistic disorder (Disease Ontology:DOID:12849)", "pathway": " (hsa:3912); (R-HSA-1474228); (R-HSA-3000157); (R-HSA-3000171); (R-HSA-3000178); (R-HSA-373760); (R-HSA-381426); (R-HSA-8874081); (R-HSA-8957275); (R-HSA-9619665); (R-HSA-9638630); (R-HSA-9913351); (R-HSA-9925563)", "pathway_count": 13, "publication_count": 377, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10022829;10026136;10077652;10189375;10203854;10218588;10220111;10229672;10339611;10386589;10400691;10441321;10512690;10521801;10545507;10614670;10673326;10681634;10706100;10727776;10757804;10809722;10810289;10856243;10893187;10898936;10912521;10932245;10942431;10951195;10986281;10990447;11054877;11084047;11115854;11133365;11157804;11158056;11237011;11250653;11259413;11264294;11316783;11352924;11356866;11375993;11394999;11430795;11430802;11495720;11522292;11606061;11734543;11739083;11739641;11751371;11782409;11788658;11847221;11872628;11964076;12056842;12145339;12189167;12198163;12225811;12237301;12241545;12379487;12466191;12727852;12750860;12782656;12799134;12810533;12843408;12904166;1319059;1370451;1376317;1383255;14512514;14522948;14664827;14715956;14973287;14978216;15075323;15126567;15150276;15175026;15189448;15234972;15296743;15308688;15356632;1544908;15469690;15485880;15525596;15591058;15610069;15642270;15695336;15836632;15907797;15958533;16000162;16133547;16136673;16293224;16311519;16319321;16335952;16373334;16413178;16493581;1649600;16524571;16581764;16631740;16782899;16806867;16825321;16923174;1698775;1704008;17047378;1707285;17249697;17312271;17325040;17332331;17354228;17574028;17588949;17608959;17699610;17905726;17959798;17985932;18434311;18634568;18658137;18764929;18767875;18803322;19010778;19143832;19156870;19159218;19321787;19346169;19413330;19562805;19571574;19657146;19714641;19745155;1975589;1975954;19922439;19946898;20044576;20058876;20068231;20142769;20149798;20213556;2059554;20625412;20802513;20832498;21030783;21044070;21152083;21297635;21326363;21411665;21423190;21423191;21441952;21613327;21642437;21653862;21670566;21784848;21789315;21864727;22053691;22134916;22159078;22159414;22180461;22223806;22333914;22492709;22493504;22764250;22814607;23035980;23472759;23481700;23584533;2364322;23695165;23747866;23845380;23874858;2412224;24191038;2420006;24227709;2430969;24480479;24646194;24675079;2476804;2479552;25576301;25645385;25813380;25892735;25925986;25974668;26091039;26423937;26441514;27220739;27288457;27846572;27859941;27862975;28852375;29242379;29391424;29557506;29741879;29748249;29769354;29786170;29789417;29888467;30059200;30779550;30833945;31092671;31154438;31222486;31611695;31844290;31848261;32157095;32350084;32387766;32488085;32725632;3282674;32938616;33592498;33717175;33912179;33968037;33981976;34019948;34171305;34405274;34509645;34606115;34725712;35051231;35138101;35251023;35436411;35445627;35580925;35763670;35843586;3611077;36215666;36241641;36284347;3661559;37063705;37074911;38665916;38838015;3997977;40307207;41364132;6193777;6439184;7075587;7499434;7509446;7519608;7523391;7525263;7525634;7525824;7527058;7527330;7527495;7538844;7542669;7543116;7547873;7547961;7559467;7588299;7592992;7683646;7685013;7689487;7693733;7844150;7852349;7925941;7935840;8002934;8043271;8054685;8138712;8226919;8268918;8349731;8440685;8576247;8607994;8619637;8626565;8627307;8647822;8662541;8781553;8798547;8798654;8817670;8842374;8845841;8894645;8943283;8964575;9065415;9115292;9148753;9214383;9245798;9252349;9294172;9341124;9346959;9405466;9412493;9417118;9418958;9461298;9482253;9497324;9645947;9652404;9659899;9659900;9685393;9705348;9709957;9733769;9748295;9786878;9852107;9858769;9864373;9922210;9949188", "class_list": "", "function": "Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. Involved in the organization of the laminar architecture of the cerebral cortex. It is probably required for the integrity of the basement membrane/glia limitans that serves as an anchor point for the endfeet of radial glial cells and as a physical barrier to migrating neurons. Radial glial cells play a central role in cerebral cortical development, where they act both as the proliferative unit of the cerebral cortex and a scaffold for neurons migrating toward the pial surface. As a subunit of laminin-1 (also known as laminin-111 or EHS laminin), it is involved in the stimulation of agrin-induced receptor clustering through a MuSK-independent pathway., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, UniProtKB]; Compound variants of FKTN, POMGNT1, and LAMB1 gene identified by prenatal whole-exome sequencing in three fetuses with congenital hydrocephalus., [RefSeq, PubMed]; Evaluation of JUN, FN1 and LAMB1 polymorphisms in pterygium in a Chinese Han population., [RefSeq, PubMed]; Lamin B1 is a potential therapeutic target and prognostic biomarker for hepatocellular carcinoma., [RefSeq, PubMed]; Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the beta chain isoform laminin, beta 1. The beta 1 chain has 7 structurally distinct domains which it shares with other beta chain isomers. The C-terminal helical region containing domains I and II are separated by domain alpha, domains III and V contain several EGF-like repeats, and domains IV and VI have a globular conformation. Laminin, beta 1 is expressed in most tissues that produce basement membranes, and is one of the 3 chains constituting laminin 1, the first laminin isolated from Engelbreth-Holm-Swarm (EHS) tumor. A sequence in the beta 1 chain that is involved in cell attachment, chemotaxis, and binding to the laminin receptor was identified and shown to have the capacity to inhibit metastasis. [provided by RefSeq, Aug 2011]., [RefSeq]; RNA Helicase DDX24 Stabilizes LAMB1 to Promote Hepatocellular Carcinoma Progression., [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": 8, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 9, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 10, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 10, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 13, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 71, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 135, "disease_count": 4, "glyco_site_count": 19, "binding_glycan_count": 0, "secondary_ac_list": "Q14D91", "ec_number_list": "", "go_molecular_function": "GO:0043208 glycosphingolipid binding;GO:0005178 integrin binding;GO:0019899 enzyme binding;GO:0005198 structural molecule activity;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005788 endoplasmic reticulum lumen;GO:0031012 extracellular matrix", "go_biological_process": "GO:1904395 positive regulation of skeletal muscle acetylcholine-gated channel clustering;GO:0007155 cell adhesion;GO:0007162 negative regulation of cell adhesion;GO:0030155 regulation of cell adhesion;GO:0030335 positive regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 52.9, "record_id": "P07942-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UK45-1", "uniprot_id": "LSM7_HUMAN", "mass": 11602.0, "length": 103, "protein_name": "U6 snRNA-associated Sm-like protein LSm7", "gene_name": "LSM7", "organism": "Human", "refseq_name": "U6 snRNA-associated Sm-like protein LSm7", "refseq_ac": "NP_057283", "gene_names_uniprotkb": "LSM7", "gene_names_refseq": "LDCA; LSM7; YNL147W", "protein_names_uniprotkb": "U6 snRNA-associated Sm-like protein LSm7", "protein_names_refseq": "LSM7 U6 small nuclear RNA and mRNA degradation associated; LSM7 homolog, U6 small nuclear RNA associated; U6 snRNA-associated Sm-like protein LSm7", "tax_id": 9606, "disease": "LSM7-related leukodystrophy and cerebellar atrophy (MONDO:MONDO:0978294)", "pathway": " (hsa:51690); (R-HSA-430039); (R-HSA-72163)", "pathway_count": 3, "publication_count": 146, "publication_id_list": "10523320;10882114;11014198;11101529;11233976;11237011;11283721;11991638;12165861;12176931;12218187;12411573;12414731;12417715;12477934;12486012;12515382;12923261;14625303;14713954;14749774;15085179;15231747;15475613;15711010;16051491;16141059;16246173;16299471;16314458;16809785;17095540;17245413;17332742;17606899;18039849;18322460;18593880;19061636;19103666;19165350;19239894;19279404;19536130;20423332;20980672;21536652;2176635;22110043;22365833;22959432;22961380;23222130;23236153;23345524;24196718;24304693;24448447;24737827;24914973;25555158;25576301;2558966;25645385;25802875;26154972;26375851;26385511;26420826;26912367;26969736;26992070;27377154;27459055;27683217;27846572;28062851;28076346;28228285;28502770;28514659;28649982;28781166;28832583;28834231;28904123;29242379;29301961;29317506;29360106;29361316;29557506;2963332;30192525;30315122;30315277;30410026;30705154;30728453;30765414;30975767;31409651;31844290;32157095;32179686;32329775;32357974;32494006;32897882;32938616;33243851;33298915;33392160;33446560;33537174;33592498;33717175;33912179;33936100;33981976;34087483;34171305;34185709;34301950;34822310;34932366;35047835;35051231;35318648;35385551;35561310;35580925;36010968;3757028;39182568;39420558;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "Plays a role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex) (PubMed:28781166, PubMed:35047835). The heptameric LSM2-8 complex binds specifically to the 3'-terminal U-tract of U6 snRNA (PubMed:10523320)., [UniProtKB, PubMed, PubMed, PubMed]; RNA-binding protein LSM7 facilitates breast cancer metastasis through mediating alternative splicing of CD44., [RefSeq, PubMed]; Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004]., [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:0017070 U6 snRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005681 spliceosomal complex", "go_biological_process": "GO:0000290 deadenylation-dependent decapping of nuclear-transcribed mRNA;GO:0000244 spliceosomal tri-snRNP complex assembly;GO:0000387 spliceosomal snRNP assembly;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 14.7, "record_id": "Q9UK45-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WXF8-1", "uniprot_id": "DEDD2_HUMAN", "mass": 36179.0, "length": 326, "protein_name": "DNA-binding death effector domain-containing protein 2", "gene_name": "DEDD2", "organism": "Human", "refseq_name": "DNA-binding death effector domain-containing protein 2 isoform 1", "refseq_ac": "NP_001257543", "gene_names_uniprotkb": "DEDD2; FLAME3; PSEC0004", "gene_names_refseq": "DEDD2; FLAME-3; FLAME3", "protein_names_uniprotkb": "DNA-binding death effector domain-containing protein 2; DED-containing protein FLAME-3; FADD-like anti-apoptotic molecule 3", "protein_names_refseq": "DED-containing protein FLAME-3; DNA-binding death effector domain-containing protein 2 isoform 1; DNA-binding death effector domain-containing protein 2; FADD-like anti-apoptotic molecule 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:162989)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "11237011;11741985;11965497;12235123;12527898;16303743;25418920;25576301;26154972;27846572;27920218;28063628;28832583;29242379;29393594;29493099;29557506;29632046;29786170;30315122;31844290;31848261;32157095;32265295;32502341;32938616;36215666", "class_list": "", "function": "DEDD and DEDD2 may be important mediators for death receptors and that they may target caspases to the nucleus., [RefSeq, PubMed]; FLAME-3 forms nuclear complexes with the TFIIIC102 subunit of human transcription factor IIIC, [RefSeq, PubMed]; May play a critical role in death receptor-induced apoptosis and may target CASP8 and CASP10 to the nucleus. May regulate degradation of intermediate filaments during apoptosis. May play a role in the general transcription machinery in the nucleus and might be an important regulator of the activity of GTF3C3., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a nuclear-localized protein containing a death effector domain (DED). The encoded protein may regulate the trafficking of caspases and other proteins into the nucleus during death receptor-induced apoptosis. Alternative splicing results in multiple transcript variants. [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": 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": "Q8NBR2;Q8NES1;Q8TAA8;Q96D35", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0030159 signaling receptor complex adaptor activity", "go_cellular_component": "GO:0005730 nucleolus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006396 RNA processing;GO:0019725 cellular homeostasis;GO:0035556 intracellular signal transduction;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q8WXF8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13576-1", "uniprot_id": "IQGA2_HUMAN", "mass": 180578.0, "length": 1575, "protein_name": "Ras GTPase-activating-like protein IQGAP2", "gene_name": "IQGAP2", "organism": "Human", "refseq_name": "ras GTPase-activating-like protein IQGAP2 isoform 2", "refseq_ac": "NP_001272389", "gene_names_uniprotkb": "IQGAP2", "gene_names_refseq": "IQGAP2", "protein_names_uniprotkb": "Ras GTPase-activating-like protein IQGAP2", "protein_names_refseq": "ras GTPase-activating-like protein IQGAP2 isoform 2; ras GTPase-activating-like protein IQGAP2", "tax_id": 9606, "disease": "hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:10788); (R-HSA-5626467); (R-HSA-6798695); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013408)", "pathway_count": 6, "publication_count": 381, "publication_id_list": "10232922;10464238;10473551;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10652265;10699171;10699464;10724160;10873802;10958683;11007481;11058585;11085924;11149925;11237011;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11689693;11696321;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11864571;11884391;11912491;11948177;11961559;11967128;12071859;12093360;12096337;12110184;12172552;12177196;12195014;12221096;12351724;12376551;12432077;12464619;12515716;12531887;12546821;12547822;12650940;12665586;12665801;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;16339170;16473593;16492808;16507994;16519628;16630611;16636067;16702231;16714282;16762923;16777452;16777849;16862148;16896804;16914516;16968698;17027967;17064668;17077126;17145773;17196961;17214551;17244649;17583407;17599059;17702745;17765681;17804252;17932950;17976533;18006505;18045877;18056264;18212344;18218625;18237546;18249095;18318008;18347018;18363964;18396277;18426980;18653540;18786931;18835169;18838382;18929667;19079338;19269969;19494238;19581409;19605563;19651622;19664994;19673492;19690332;19713215;19737400;19934221;20058876;20068231;20166139;20400958;20460433;20679435;20810653;21148482;21299499;21406692;21454492;21460214;21542010;21565175;21613211;21621533;21685891;21730051;21850230;21865595;21989057;22004470;22096251;22298643;22407364;22424782;22461490;22475431;22571869;22608513;22734669;22944912;22970203;23033978;23186163;23200924;23209303;23255595;23288169;23406282;23434736;23481700;23572525;23650620;23707487;23718289;23940355;24086303;24259668;24275569;24335996;24352656;24584464;24659802;24715725;24859002;24933155;24960694;24996924;25024229;25211221;25418920;25428919;25576301;25645385;25704760;25721503;25795300;25862245;25963737;26129894;26154972;26299518;26375851;26529257;26598554;26768311;26887924;26992070;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27600516;27713499;27798618;27806292;27846572;27862975;28028151;28114311;28196833;28218747;28228285;28514659;28825699;28832583;28834231;28860633;28904123;29089502;29242379;29351928;29358323;29382922;29437277;29493099;29508533;29557506;29632046;29786170;29789417;30061681;30315122;30379171;30524438;30573663;30779550;30853411;31154438;31530632;31844290;31848261;31871319;31937595;31998317;32157095;32161166;32203420;32250392;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33091337;33141586;33298915;33392160;33592498;33691108;33717175;33846302;33912179;33936100;33968037;33981976;34034707;34185709;34357683;34509645;34932366;35051231;35154160;35251023;35254053;35318648;35580925;36010968;36215666;36241641;36284347;37504571;37938771;40914422;7476457;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8537347;8543060;8643598;8645157;8649427;8662891;8670801;8692836;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9113980;9199170;9268338;9305890;9368021;9405671;9438849;9490638;9497316;9582072;9659915;9670022;9694656;9792683;9822598;9822605;9829970;9843499;9846874;9988689", "class_list": "", "function": "Binds to activated CDC42 and RAC1 but does not seem to stimulate their GTPase activity. Associates with calmodulin., [UniProtKB]; Circular RNA sequencing indicates circ-IQGAP2 and circ-ZC3H6 as noninvasive biomarkers of primary Sjogren's syndrome., [RefSeq, PubMed]; IQGAP2 acts as an independent prognostic factor and is related to immunosuppression in DLBCL. Publication Status: Online-Only, [RefSeq, PubMed]; Reduced IQGAP2 expression promotes EMT and inhibits apoptosis by modulating the MEK-ERK and p38 signaling in breast cancer irrespective of ER status. Publication Status: Online-Only, [RefSeq, PubMed]; The gene for the putative rac1/cdc42 effector protein IQGAP2 was found in the PAR gene cluster at 5q13, flanked by PAR1 & encompassing PAR3. It functions as a GTP-dependent effector protein in thrombin-induced platelet cytoskeletal reorganization., [RefSeq, PubMed]; This gene encodes a member of the IQGAP family. The encoded protein contains three IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. This protein interacts with components of the cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. It also acts as a tumor suppressor and has been found to play a role in regulating innate antiviral responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]., [RefSeq]; Upregulation of IQGAP2 by EBV transactivator Rta and its influence on EBV life cycle., [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": 20, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 48, "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": "A8K4V1;B7Z8A4;J3KR91", "ec_number_list": "", "go_molecular_function": "GO:0003779 actin binding;GO:0005096 GTPase activator activity;GO:0005516 calmodulin binding;GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding;GO:0051015 actin filament binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005874 microtubule;GO:0005886 plasma membrane;GO:0005938 cell cortex", "go_biological_process": "GO:0007165 signal transduction;GO:0032956 regulation of actin cytoskeleton organization;GO:0034314 Arp2/3 complex-mediated actin nucleation;GO:0070493 thrombin-activated receptor signaling pathway;GO:1903479 mitotic actomyosin contractile ring assembly actin filament organization", "synthesized_glycan_count": 0, "hit_score": 38.8, "record_id": "Q13576-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NS61-1", "uniprot_id": "KCIP2_HUMAN", "mass": 30907.0, "length": 270, "protein_name": "A-type potassium channel modulatory protein KCNIP2", "gene_name": "KCNIP2", "organism": "Human", "refseq_name": "A-type potassium channel modulatory protein KCNIP2 isoform 1", "refseq_ac": "NP_055406", "gene_names_uniprotkb": "KCNIP2; KCHIP2", "gene_names_refseq": "KCHIP2; KCNIP2", "protein_names_uniprotkb": "A-type potassium channel modulatory protein KCNIP2; Cardiac voltage-gated potassium channel modulatory subunit; KChIP2; Kv channel-interacting protein 2; Potassium channel-interacting protein 2", "protein_names_refseq": "A-type potassium channel modulatory protein 2; A-type potassium channel modulatory protein KCNIP2 isoform 1; A-type potassium channel modulatory protein KCNIP2; Kv channel interacting protein 2; cardiac voltage-gated potassium channel modulatory subunit; potassium channel-interacting protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:30819); (R-HSA-5576894)", "pathway_count": 2, "publication_count": 22, "publication_id_list": "10676964;10729221;11230166;11237011;11263977;11287421;11423117;11684073;12297301;12829703;14623880;14980201;14980207;15356203;15358149;16112838;17057713;17187064;30622142;31362018;31844290;34997220", "class_list": "", "function": "Polybasic motif in alternatively spliced KChIP2 isoforms prevents Ca(2+) regulation of Kv4 channels, [RefSeq, PubMed]; Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels (PubMed:10676964, PubMed:11287421, PubMed:11684073, PubMed:12297301, PubMed:14623880, PubMed:34997220). Modulates channel density, inactivation kinetics and rate of recovery from inactivation in a calcium-dependent and isoform-specific manner (PubMed:10676964, PubMed:11287421, PubMed:11684073, PubMed:12297301, PubMed:14623880, PubMed:34997220). Involved in KCND2 and KCND3 trafficking to the cell surface (PubMed:12829703). May be required for the expression of I(To) currents in the heart (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The palmitoylation status of KChIP2 determines its subcellular distribution in cardiac myocytes. Stress promotes nuclear entry of KChIP2, diverting it from ion channel modulation at the plasma membrane to other functions in the nuclear compartment., [RefSeq, PubMed]; This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belongs to the recoverin branch of the EF-hand superfamily. Members of the KCNIP family are small calcium binding proteins. They all have EF-hand-like domains, and differ from each other in the N-terminus. They are integral subunit components of native Kv4 channel complexes. They may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified from 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": 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": "A6NJE5;A8MQ75;Q3YAC6;Q3YAC8;Q3YAC9;Q7Z6F1;Q96K86;Q96T41;Q96T42;Q96T43;Q96T44;Q9H0N4;Q9HD10;Q9HD11;Q9NS60;Q9NY10;Q9NZI1", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0015459 potassium channel regulator activity;GO:0044325 transmembrane transporter binding;GO:0005509 calcium ion binding;GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0030425 dendrite;GO:0045202 synapse;GO:0008076 voltage-gated potassium channel complex", "go_biological_process": "GO:1901379 regulation of potassium ion transmembrane transport;GO:0006936 muscle contraction;GO:0007165 signal transduction;GO:0001508 action potential;GO:0007268 chemical synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q9NS61-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5HYC2-1", "uniprot_id": "BRD10_HUMAN", "mass": 228087.0, "length": 2103, "protein_name": "Uncharacterized bromodomain-containing protein 10", "gene_name": "BRD10", "organism": "Human", "refseq_name": "uncharacterized bromodomain-containing protein 10 isoform 1", "refseq_ac": "NP_001017969", "gene_names_uniprotkb": "BRD10; KIAA2026", "gene_names_refseq": "BRD10; KIAA2026", "protein_names_uniprotkb": "Uncharacterized bromodomain-containing protein 10", "protein_names_refseq": "uncharacterized bromodomain-containing protein 10 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:158358)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "11237011;24715725;24984779;25576301;26154972;26992070;27452731;28832583;28904123;29237092;29242379;29557506;30059200;30379171;31217245;31492838;31844290;32157095;32161166;32387766;32938616;32938750;33912179;33968037;34019948;34846842;35051231;35254053;35289036;35580925;36241641;38253038;39302247;39531497;39534244;40307207", "class_list": "", "function": "", "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": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 15, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 15, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 15, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 67, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 17, "binding_glycan_count": 0, "secondary_ac_list": "A8MTP2;B9EGW7;Q4VXA2;Q8IVE5", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q5HYC2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q693B1-1", "uniprot_id": "KCD11_HUMAN", "mass": 25887.0, "length": 232, "protein_name": "BTB/POZ domain-containing protein KCTD11", "gene_name": "KCTD11", "organism": "Human", "refseq_name": "BTB/POZ domain-containing protein KCTD11 isoform s", "refseq_ac": "NP_001002914", "gene_names_uniprotkb": "KCTD11; C17orf36; REN", "gene_names_refseq": "C17orf36; KCASH1; KCTD11; REN/KCTD11; REN", "protein_names_uniprotkb": "BTB/POZ domain-containing protein KCTD11; KCASH1 protein; Potassium channel tetramerization domain-containing protein 11; RING-type E3 ubiquitin transferase subunit KCTD11", "protein_names_refseq": "BTB/POZ domain-containing protein KCTD11 isoform s; BTB/POZ domain-containing protein KCTD11; RING-type E3 ubiquitin transferase subunit KCTD11; potassium channel tetramerization domain-containing protein 11; retinoic acid, EGF, NGF induced gene protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:147040)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "11237011;15249678;20081843;20591193;21237243;21472142;25045667;25576301;25974686;27152988;28832583;28904123;29493099;29632046;33141586;33537174;33968037;33981976;34453479;35051231;35580925;36241641;36284347;38062245", "class_list": "", "function": "Findings identify KCTD11 as a widely down-regulated gene in human cancers, and provide a basis to understand how its expression might be deregulated in tumor cells Publication Status: Online-Only, [RefSeq, PubMed]; KCTD11 inhibits progression of lung cancer by binding to beta-catenin to regulate the activity of the Wnt and Hippo pathways., [RefSeq, PubMed]; Our study demonstrates and supports that KCTD11, as well as negatively regulated downstream effectors belonging to Hh signaling, plays a role in prostate cancer pathogenesis., [RefSeq, PubMed]; Plays a role as a marker and a regulator of neuronal differentiation; Up-regulated by a variety of neurogenic signals, such as retinoic acid, epidermal growth factor/EGF and NGFB/nerve growth factor. Induces apoptosis, growth arrest and the expression of cyclin-dependent kinase inhibitor CDKN1B. Plays a role as a tumor repressor and inhibits cell growth and tumorigenicity of medulloblastoma (MDB). Acts as a probable substrate-specific adapter for a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex towards HDAC1. Functions as antagonist of the Hedgehog pathway on cell proliferation and differentiation by affecting the nuclear transfer of transcription factor GLI1, thus maintaining cerebellar granule cells in undifferentiated state, this effect probably occurs via HDAC1 down-regulation, keeping GLI1 acetylated and inactive. When knock-down, Hedgehog antagonism is impaired and proliferation of granule cells is sustained. Activates the caspase cascade., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Results identify REN(KCTD11) as a suppressor of Hedgehog signaling and suggest that its inactivation might lead to a deregulation of the tumor-promoting Hedgehog pathway in medulloblastoma., [RefSeq, PubMed]; SALL4 is a CRL3[REN/KCTD11] substrate that drives Sonic Hedgehog-dependent medulloblastoma., [RefSeq, PubMed]; The protein is expressed in two alternative variants: a short previously characterized form (sKCTD11) composed by 232 amino acids and a longer variant (lKCTD11) which contains an N-terminal extension of 39 residues., [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": 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": 2, "binding_glycan_count": 0, "secondary_ac_list": "B3KPE0", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0016740 transferase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0045666 positive regulation of neuron differentiation;GO:0051260 protein homooligomerization;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q693B1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NZI2-1", "uniprot_id": "KCIP1_HUMAN", "mass": 26817.0, "length": 227, "protein_name": "A-type potassium channel modulatory protein KCNIP1", "gene_name": "KCNIP1", "organism": "Human", "refseq_name": "A-type potassium channel modulatory protein KCNIP1 isoform 2", "refseq_ac": "NP_055407", "gene_names_uniprotkb": "KCNIP1; KCHIP1; VABP", "gene_names_refseq": "KCHIP1; KCNIP1; VABP", "protein_names_uniprotkb": "A-type potassium channel modulatory protein KCNIP1; KChIP1; Kv channel-interacting protein 1; Potassium channel-interacting protein 1; Vesicle APC-binding protein", "protein_names_refseq": "A-type potassium channel modulatory protein 1; A-type potassium channel modulatory protein KCNIP1 isoform 2; A-type potassium channel modulatory protein KCNIP1; Kv channel interacting protein 1; potassium channel interacting protein 1; vesicle APC-binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:30820); (R-HSA-5576894)", "pathway_count": 2, "publication_count": 18, "publication_id_list": "10676964;10729221;11237011;11423117;12829703;14572458;14980207;15184042;15358149;16112838;17057713;17187064;26831368;28132811;29176790;29491224;34552243;34997220", "class_list": "", "function": "Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels (PubMed:10676964, PubMed:11423117, PubMed:17187064, PubMed:34552243, PubMed:34997220). Regulates channel density, inactivation kinetics and rate of recovery from inactivation in a calcium-dependent and isoform-specific manner (PubMed:10676964, PubMed:11423117, PubMed:17187064, PubMed:34552243, PubMed:34997220). In vitro, modulates KCND1/Kv4.1 and KCND2/Kv4.2 currents (PubMed:34552243). Increases the presence of KCND2 at the cell surface (PubMed:12829703)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Study shows that the VAPB-PTPIP51 tethers regulate autophagy and demonstrates that overexpression of VAPB or PTPIP51 to tighten endoplasmic reticulum-mitochondria contacts impairs, whereas small interfering RNA-mediated loss of VAPB or PTPIP51 to loosen contacts stimulates, autophagosome formation., [RefSeq, PubMed]; The current study provides evidence that genetic variants of Kv accessory proteins may contribute to the susceptibility of Attention-deficit/hyperactivity disorder. Publication Status: Online-Only, [RefSeq, PubMed]; These studies showed that a common copy number variation in KCNIP1 gene is a genetic predictor of atrial fibrillation risk possibly pointing to a functional pathway. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the family of cytosolic voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the neuronal calcium sensor (NCS) family of the calcium binding EF-hand proteins. They associate with Kv4 alpha subunits to form native Kv4 channel complexes. The encoded protein may regulate rapidly inactivating (A-type) currents, and hence neuronal membrane excitability, in response to changes in the concentration of intracellular calcium. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]., [RefSeq]; This is the first copy number variation association study of the KCNIP1 gene in Chinese population, and these data indicated that KCNIP1 might function as a type 2 diabetes-susceptibility gene whose dysregulation alters insulin production., [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": "A0A0C4DFQ7;B7Z7B4;Q3YAD0;Q3YAD1;Q3YAD2;Q3YAD3;Q5U822", "ec_number_list": "", "go_molecular_function": "GO:0015459 potassium channel regulator activity;GO:0044325 transmembrane transporter binding;GO:0005509 calcium ion binding;GO:0005267 potassium channel activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0030425 dendrite;GO:0045202 synapse;GO:0008076 voltage-gated potassium channel complex", "go_biological_process": "GO:1901379 regulation of potassium ion transmembrane transport;GO:0006936 muscle contraction;GO:0007268 chemical synaptic transmission;GO:0008016 regulation of heart contraction;GO:0009966 regulation of signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q9NZI2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P07195-1", "uniprot_id": "LDHB_HUMAN", "mass": 36638.0, "length": 334, "protein_name": "L-lactate dehydrogenase B chain", "gene_name": "LDHB", "organism": "Human", "refseq_name": "L-lactate dehydrogenase B chain isoform LDHB", "refseq_ac": "NP_001167568", "gene_names_uniprotkb": "LDHB", "gene_names_refseq": "HEL-S-281; LDH-B; LDH-H; LDHBD; LDHB; TRG-5", "protein_names_uniprotkb": "L-lactate dehydrogenase B chain; 1.1.1.27; LDH heart subunit; LDH-B; LDH-H; Renal carcinoma antigen NY-REN-46", "protein_names_refseq": "L-lactate dehydrogenase B chain isoform LDHB; L-lactate dehydrogenase B chain; LDH heart subunit; epididymis secretory protein Li 281; lactate dehydrogenase H chain; renal carcinoma antigen NY-REN-46; testicular secretory protein Li 25", "tax_id": 9606, "disease": "disease of metabolism (Disease Ontology:DOID:0014667); glycogen storage disease due to lactate dehydrogenase H-subunit deficiency (MONDO:MONDO:0013587)", "pathway": " (hsa:3945); (R-HSA-70268)", "pathway_count": 2, "publication_count": 171, "publication_id_list": "10211631;10508479;10509905;11237011;11276087;11377399;11509017;11863375;11945601;12042320;12121650;12962632;14596586;15104674;15551868;15592455;15870898;1587525;17308301;18351441;18507432;1931970;1935931;19608861;19664994;19679512;19690332;19748539;1993674;1996957;20068231;20112406;20305658;21156174;22628558;23284632;2334429;23555621;23646949;2440048;24714562;24715725;24998673;25202825;25247702;25418920;25469497;25502872;25505266;25575590;25576301;25594249;25645385;25802875;25810538;26154972;26552660;26758079;26768311;26811146;26929215;26992070;27166188;27317664;27452731;27600516;27618187;27846572;27893789;27920218;28063628;28218747;28228285;28446606;28467828;28514659;28832583;28834231;28860189;28904123;29242379;2930497;29314611;29317506;29393594;29437277;29472561;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30524438;30573663;30626607;30779550;30833945;31020640;31217245;31530632;31804482;31844290;31848261;31998317;32119511;32157095;32161166;32209382;32265295;32350084;32357974;32387766;32403431;32502341;32596365;32897882;32938616;32983136;33043033;33064660;33141586;33214551;33298915;33392160;33406399;33592498;33691108;33912179;33936100;33968037;33981976;34019948;34078123;34171305;3435492;34357683;34433824;34509645;34725712;34932366;35008409;35051231;35083852;35138101;35154160;35251023;35580925;36010968;36215666;36241641;36417180;37217939;37938771;38253038;38665916;38702940;38739169;40596516;40914422;4822737;7757881;7818469;8314553;8462975;8611651;8726225;9119391;9705294;9929983", "class_list": "", "function": "Epigenetic silencing of LDHB promotes hepatocellular carcinoma by remodeling the tumor microenvironment. Publication Status: Online-Only, [RefSeq, PubMed]; Integrated analysis of single cell-RNA sequencing and Mendelian randomization identifies lactate dehydrogenase B as a target of melatonin in ischemic stroke., [RefSeq, PubMed]; Interconverts simultaneously and stereospecifically pyruvate and lactate with concomitant interconversion of NADH and NAD(+)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The readthrough-extended lactate dehydrogenase subunit LDHBx can also co-import LDHA, the other LDH subunit, into peroxisomes. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes the B subunit of lactate dehydrogenase enzyme, which catalyzes the interconversion of pyruvate and lactate with concomitant interconversion of NADH and NAD+ in a post-glycolysis process. Alternatively spliced transcript variants have been found for this gene. Recent studies have shown that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is localized in the peroxisomes. Mutations in this gene are associated with lactate dehydrogenase B deficiency. Pseudogenes have been identified on chromosomes X, 5 and 13. [provided by RefSeq, Feb 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": 2, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "monitoring", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "1.1.1.27", "go_molecular_function": "GO:0042802 identical protein binding;GO:0051287 NAD binding;GO:0019900 kinase binding;GO:0004459 L-lactate dehydrogenase (NAD+) activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0019674 NAD+ metabolic process;GO:0006089 lactate metabolic process;GO:0042867 pyruvate catabolic process;GO:0019752 carboxylic acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 17.4, "record_id": "P07195-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IX18-1", "uniprot_id": "DHX40_HUMAN", "mass": 88560.0, "length": 779, "protein_name": "Probable ATP-dependent RNA helicase DHX40", "gene_name": "DHX40", "organism": "Human", "refseq_name": "probable ATP-dependent RNA helicase DHX40 isoform 2", "refseq_ac": "NP_001159773", "gene_names_uniprotkb": "DHX40; ARG147; DDX40", "gene_names_refseq": "ARG147; DDX40; DHX40; PAD", "protein_names_uniprotkb": "Probable ATP-dependent RNA helicase DHX40; 3.6.4.13; DEAH box protein 40; Protein PAD", "protein_names_refseq": "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase); DEAH (Asp-Glu-Ala-His) box polypeptide 40; DEAH box protein 40; probable ATP-dependent RNA helicase DHX40 isoform 2; probable ATP-dependent RNA helicase DHX40", "tax_id": 9606, "disease": "", "pathway": " (hsa:79665)", "pathway_count": 1, "publication_count": 58, "publication_id_list": "11237011;12522690;22645359;23481700;24366607;24397554;24715725;25576301;26154972;26811146;26992070;27600516;27846572;27920218;28218747;28228285;28832583;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632711;29786170;30315122;30410026;30429286;30484775;30524438;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33633747;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34509645;35051231;35580925;36010968;36215666;36241641;37938771", "class_list": "", "function": "Probable ATP-dependent RNA helicase., [UniProtKB]; This gene encodes a member of the DExH/D box family of ATP-dependent RNA helicases that have an essential role in RNA metabolism. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 17.[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": 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": "B3KTJ5;C9JR60;Q5JPH4;Q8TC86;Q8WY53;Q9BXM1;Q9H6M9", "ec_number_list": "5.6.2.4;3.6.1.-;3.6.4.-;3.6.4.13;3.6.4.6;3.6.1.5;2.7.7.7;2.7.7.49;3.6.4.10;3.1.3.1;3.9.1.1;4.2.99.18;5.6.1.6;5.6.2.3;3.6.4.12;3.4.21.53;5.6.2.5;3.1.-.-;3.6.5.-;7.6.2.1;2.3.2.27;7.2.2.-;5.6.2.-;2.3.2.-;2.7.11.1;3.6.1.15;3.1.4.-;3.6.-.-;3.4.24.-;3.1.13.1;5.6.2.6;3.4.-.-;2.7.4.3", "go_molecular_function": "GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0034458 3'-5' RNA helicase activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005681 spliceosomal complex", "go_biological_process": "GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q8IX18-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BQ90-1", "uniprot_id": "KLDC3_HUMAN", "mass": 43088.0, "length": 382, "protein_name": "Kelch domain-containing protein 3", "gene_name": "KLHDC3", "organism": "Human", "refseq_name": "kelch domain-containing protein 3", "refseq_ac": "NP_476502", "gene_names_uniprotkb": "KLHDC3; PEAS", "gene_names_refseq": "KLHDC3; PEAS; dJ20C7.3", "protein_names_uniprotkb": "Kelch domain-containing protein 3; Testis intracellular mediator protein", "protein_names_refseq": "kelch domain-containing protein 3; testis intracellular mediator protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:116138); (R-HSA-381038)", "pathway_count": 2, "publication_count": 63, "publication_id_list": "10.1101/2023.09.13.557529;10601334;10827079;11237011;12204115;12606021;15466936;16461360;16539657;17322306;18664523;21282569;25880248;26138980;26992070;27846572;28218747;28228285;28514659;29242379;29393594;29437277;29493099;29557506;29775578;29779948;31217245;31844290;31848261;32157095;32357974;32387766;32488085;32897882;32938616;33141586;33298915;33392160;33537174;33633747;33691108;33912179;33968037;34087483;34171305;34185709;34405274;34509645;35051231;35468939;35494241;35580925;36010968;36215666;36241641;36284347;36805027;37938771;7590364;8666242;9037597;9450183;9473480", "class_list": "", "function": "CRL2(KLHDC3) mediates p14ARF N-terminal ubiquitylation degradation to promote non-small cell lung carcinoma progression., [RefSeq, PubMed]; Cloned human and mouse Peas cDNAs (hPEAS/mPeas) and analyzed their tissue and stage-specific expressions; may be involved in meiotic recombination process, [RefSeq, PubMed]; Substrate-recognition component of a Cul2-RING (CRL2) E3 ubiquitin-protein ligase complex of the DesCEND (destruction via C-end degrons) pathway, which recognizes a C-degron located at the extreme C terminus of target proteins, leading to their ubiquitination and degradation (PubMed:29775578, PubMed:29779948). The C-degron recognized by the DesCEND pathway is usually a motif of less than ten residues and can be present in full-length proteins, truncated proteins or proteolytically cleaved forms (PubMed:29775578, PubMed:29779948). The CRL2(KLHDC3) complex specifically recognizes proteins with a glycine (Gly) at the C-terminus, leading to their ubiquitination and degradation: recognizes the C-terminal -Arg-(Xaa)n-Arg-Gly, -Arg-(Xaa)n-Lys-Gly, and -Arg-(Xaa)n-Gln-Gly degrons (PubMed:29775578, PubMed:29779948). The CRL2(KLHDC3) complex mediates ubiquitination and degradation of truncated SELENOV and SEPHS2 selenoproteins produced by failed UGA/Sec decoding, which end with a glycine (PubMed:26138980). May be involved in meiotic recombination process (PubMed:12606021)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene contains six repeated kelch motifs that are structurally similar to recombination activating gene 2, a protein involved in the activation of the V(D)J recombination. In mouse, this gene is found to be expressed specifically in testis. Its expression in pachytene spermatocytes is localized to cytoplasma and meiotic chromatin, suggesting that this gene may be involved in meiotic recombination. [provided by RefSeq, Jun 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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 9781, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K2W9", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding;GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000785 chromatin;GO:0031462 Cul2-RING ubiquitin ligase complex", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination;GO:0007131 reciprocal meiotic recombination;GO:0140627 ubiquitin-dependent protein catabolic process via the C-end degron rule pathway", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q9BQ90-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q06418-1", "uniprot_id": "TYRO3_HUMAN", "mass": 96905.0, "length": 890, "protein_name": "Tyrosine-protein kinase receptor TYRO3", "gene_name": "TYRO3", "organism": "Human", "refseq_name": "tyrosine-protein kinase receptor TYRO3 isoform 2", "refseq_ac": "NP_001317193", "gene_names_uniprotkb": "TYRO3; BYK; DTK; RSE; SKY; TIF", "gene_names_refseq": "BYK; Dtk; Etk-2; RSE; Rek; Sky; TYRO3; Tif", "protein_names_uniprotkb": "Tyrosine-protein kinase receptor TYRO3; 2.7.10.1; Tyrosine-protein kinase BYK; Tyrosine-protein kinase DTK; Tyrosine-protein kinase RSE; Tyrosine-protein kinase SKY; Tyrosine-protein kinase TIF", "protein_names_refseq": "tyrosine-protein kinase DTK; tyrosine-protein kinase RSE; tyrosine-protein kinase SKY; tyrosine-protein kinase TIF; tyrosine-protein kinase byk; tyrosine-protein kinase receptor TYRO3 isoform 2; tyrosine-protein kinase receptor TYRO3", "tax_id": 9606, "disease": "", "pathway": " (hsa:7301); (R-HSA-9918485)", "pathway_count": 2, "publication_count": 60, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11337487;12682107;14623883;15098107;15507651;15838506;16737840;17005688;17344846;18266465;18421305;18691976;20546121;22156524;22673088;23084921;23186163;23658209;24074594;25277499;26056282;26212330;26468529;27832191;28904123;29391424;29557506;29610346;29742433;30765874;31720911;31844290;32157095;32350084;32938616;33968037;33981976;34171305;34211107;34357683;35051231;35251023;36010968;36215666;37074911;37116196;37212497;37678714;37933040;39327735;7511603;7537495;7634325;7857658;8108112;8262388;9175267;9931503", "class_list": "", "function": "(Microbial infection) Acts as a receptor for Ebolavirus, possibly through GAS6 binding to phosphatidyl-serine at the surface of virion envelope., [UniProtKB, PubMed]; (Microbial infection) Acts as a receptor for lassa virus and lymphocytic choriomeningitis virus, possibly through GAS6 binding to phosphatidyl-serine at the surface of virion envelope., [UniProtKB, PubMed, PubMed, PubMed]; Expression and clinical association of MFG-E8 and TAM receptors in diabetic patients with different stages of microvascular complication: An experimental study., [RefSeq, PubMed]; Overexpression of TYRO3 indicates poor prognosis and induces gastric cancer progression via AKT-mTOR pathway., [RefSeq, PubMed]; Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding to several ligands including TULP1 or GAS6. Regulates many physiological processes including cell survival, migration and differentiation. Ligand binding at the cell surface induces dimerization and autophosphorylation of TYRO3 on its intracellular domain that provides docking sites for downstream signaling molecules. Following activation by ligand, interacts with PIK3R1 and thereby enhances PI3-kinase activity. Activates the AKT survival pathway, including nuclear translocation of NF-kappa-B and up-regulation of transcription of NF-kappa-B-regulated genes. TYRO3 signaling plays a role in various processes such as neuron protection from excitotoxic injury, platelet aggregation and cytoskeleton reorganization. Also plays an important role in inhibition of Toll-like receptors (TLRs)-mediated innate immune response by activating STAT1, which selectively induces production of suppressors of cytokine signaling SOCS1 and SOCS3., [UniProtKB, PubMed]; TYRO3 and EPHA2 Expression Are Dysregulated in Breast Cancer., [RefSeq, PubMed]; TYRO3 promotes tumorigenesis and drug resistance in colorectal cancer by enhancing the epithelial-mesenchymal transition process., [RefSeq, PubMed]; The gene is part of a 3-member transmembrane receptor kinase receptor family with a processed pseudogene distal on chromosome 15. The encoded protein is activated by the products of the growth arrest-specific gene 6 and protein S genes and is involved in controlling cell survival and proliferation, spermatogenesis, immunoregulation and phagocytosis. The encoded protein has also been identified as a cell entry factor for Ebola and Marburg viruses. [provided by RefSeq, May 2010]., [RefSeq]; Tyro3 receptor tyrosine kinase contributes to pathogenic phenotypes of fibroblast-like synoviocytes in rheumatoid arthritis and disturbs immune cell balance in experimental arthritis., [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": 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": 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": 8, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 8621, "biomarker_type": "", "glycan_count": 13, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "O14953;Q86VR3", "ec_number_list": "6.2.1.45;2.7.12.2;2.7.10.1;2.7.10.2;2.7.11.1;2.7.12.1;3.4.21.75;2.7.1.40;2.7.1.32;2.7.1.82;6.2.1.-;2.7.10.4;2.7.11.13;2.7.11.23;3.1.-.-;6.2.1.64", "go_molecular_function": "GO:0004713 protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0001618 virus receptor activity;GO:0004714 transmembrane receptor protein tyrosine kinase activity;GO:0043548 phosphatidylinositol 3-kinase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0043235 receptor complex", "go_biological_process": "GO:0007155 cell adhesion;GO:0007165 signal transduction;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0007283 spermatogenesis;GO:0007399 nervous system development", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q06418-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZXV5-1", "uniprot_id": "TMTC3_HUMAN", "mass": 104009.0, "length": 915, "protein_name": "Protein O-mannosyl-transferase TMTC3", "gene_name": "TMTC3", "organism": "Human", "refseq_name": "protein O-mannosyl-transferase TMTC3 isoform 1", "refseq_ac": "NP_861448", "gene_names_uniprotkb": "TMTC3", "gene_names_refseq": "LIS8; SMILE; TMTC3", "protein_names_uniprotkb": "Protein O-mannosyl-transferase TMTC3; 2.4.1.109; Protein SMILE; Transmembrane O-mannosyltransferase targeting cadherins 3; Transmembrane and tetratricopeptide repeat-containing 3", "protein_names_refseq": "protein O-mannosyl-transferase TMTC3 isoform 1; protein O-mannosyl-transferase TMTC3; transmembrane and TPR repeat-containing protein 3; transmembrane and tetratricopeptide repeat containing 3", "tax_id": 9606, "disease": "lissencephaly 8 (Disease Ontology:DOID:0112233); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:160418)", "pathway_count": 1, "publication_count": 68, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;11237011;18669648;21603654;21956870;23584533;24190977;25576301;25645385;25880248;25892735;26791533;26992070;27600516;27773428;27846572;27862975;27920218;28218747;28832583;28834231;28904123;28973932;29242379;29331515;29351928;29493099;29557506;29769354;29789417;30315122;30410026;30429286;30779550;30833945;31154438;31217245;31222486;31844290;31848261;32157095;32161166;32350084;32357974;32938616;32983136;33436046;33537174;33592498;33968037;33981976;34087483;34171305;34405274;34725712;34794738;35051231;35251023;35318648;35494241;35580925;35982901;36010968;36241641;37074911;38665916;39534244", "class_list": "", "function": "A Novel ER Stress Mediator TMTC3 Promotes Squamous Cell Carcinoma Progression by Activating GRP78/PERK Signaling Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Conserved sequence motifs in human TMTC1, TMTC2, TMTC3, and TMTC4, new O-mannosyltransferases from the GT-C/PMT clan, are rationalized as ligand binding sites. Publication Status: Online-Only, [RefSeq, PubMed]; O-mannosylation pathway dedicated to cadherins/ protocadherins orchestrated by the four TMTC1-4 genes, [RefSeq, PubMed]; SMILE is a novel transgene specifying both bronchial smooth muscle and lung alveolar myofibroblast lineages, contributing to the understanding of the biological control of the development of these cells., [RefSeq, PubMed]; That SMILE is involved in the endoplasmic reticulum stress response, by modulating proteasome activity and XBP-1 transcript expression. This function of SMILE may influence immune cell behavior in the context of transplantation., [RefSeq, PubMed]; The deep infiltrating endometriosis tissue has lower T-cadherin, E-cadherin, progesterone receptor and oestrogen receptor than endometrioma tissue., [RefSeq, PubMed]; This gene encodes a protein that belongs to the transmembrane and tetratricopeptide repeat-containing protein family. [provided by RefSeq, May 2010]., [RefSeq]; Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. The 4 members of the TMTC family are O-mannosyl-transferases dedicated primarily to the cadherin superfamily, each member seems to have a distinct role in decorating the cadherin domains with O-linked mannose glycans at specific regions. Also acts as O-mannosyl-transferase on other proteins such as PDIA3 (PubMed:28973932). Involved in the positive regulation of proteasomal protein degradation in the endoplasmic reticulum (ER), and the control of ER stress response., [UniProtKB, PubMed, 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": 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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 16, "disease_count": 2, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "Q5CZ86;Q5H9T6;Q68DQ6;Q68DX0;Q7Z332;Q8NC50", "ec_number_list": "2.4.1.109", "go_molecular_function": "GO:0004169 dolichyl-phosphate-mannose-protein mannosyltransferase activity;GO:0000030 mannosyltransferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane", "go_biological_process": "GO:0034976 response to endoplasmic reticulum stress;GO:0035269 protein O-linked glycosylation via mannose;GO:1901800 positive regulation of proteasomal protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 9.3, "record_id": "Q6ZXV5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H5Z1-1", "uniprot_id": "DHX35_HUMAN", "mass": 78910.0, "length": 703, "protein_name": "Probable ATP-dependent RNA helicase DHX35", "gene_name": "DHX35", "organism": "Human", "refseq_name": "probable ATP-dependent RNA helicase DHX35 isoform 2", "refseq_ac": "NP_001177738", "gene_names_uniprotkb": "DHX35; C20orf15; DDX35", "gene_names_refseq": "C20orf15; DDX35; DHX35; KAIA0875", "protein_names_uniprotkb": "Probable ATP-dependent RNA helicase DHX35; 3.6.4.13; DEAH box protein 35", "protein_names_refseq": "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35; DEAH (Asp-Glu-Ala-His) box polypeptide 35; DEAH-box protein 35; probable ATP-dependent RNA helicase DHX35 isoform 2; probable ATP-dependent RNA helicase DHX35", "tax_id": 9606, "disease": "", "pathway": " (hsa:60625); (R-HSA-72163)", "pathway_count": 2, "publication_count": 140, "publication_id_list": "10.1101/2023.09.13.557529;10882114;11014198;11101529;11233976;11237011;11991638;12176931;12411573;12414731;12477934;12522690;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;24448447;24714562;24737827;24914973;25555158;2558966;25645385;25880248;25892735;26154972;26385511;26420826;26728094;26811146;26969736;26992070;27377154;27459055;27600516;27683217;27846572;27862975;28062851;28076346;28218747;28228285;28502770;28514659;28649982;28781166;28832583;28904123;29242379;29301961;29360106;29361316;29393594;29437277;29493099;29508533;29632046;2963332;29769354;30315122;30315277;30705154;30728453;30765414;30779550;30975767;31154438;31409651;31844290;31848261;32157095;32161166;32179686;32265295;32329775;32357974;32387766;32488085;32494006;32502341;32535546;32897882;32938616;32983136;33141586;33243851;33298915;33446560;33691108;33717175;33912179;33968037;33981976;34171305;34301950;34357683;34822310;34932366;35051231;35251023;35318648;35385551;35580925;36241641;36284347;37217939;3757028;39037956;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "Acts as a co-sensor in RIGI-mediated antiviral innate immunity (PubMed:39037956). Enhances RIGI recognition of viral nucleic acids and interacts with RIGI and MAVS to form a signaling complex which triggers downstream signaling cascades that lead to the induction of type I interferons and pro-inflammatory cytokines during the antiviral innate immune response (PubMed:39037956)., [UniProtKB, PubMed]; DEAD box proteins characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The function of this gene product which is a member of this family, has not been determined. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2010]., [RefSeq]; DRH1 - a novel blood-based HPV tumour marker., [RefSeq, PubMed]; Human DDX40gene, a new member of the DEAH-box protein family shares 53% and 43% amino acid identity with human DDX8 and yeast Drh1.DDX40 may play roles in pre-mRNA splicing, ribosome biogenesis and other RNA processing functions, [RefSeq, PubMed]; May be involved in pre-mRNA splicing., [UniProtKB, UniProtKB]; The RNA helicase DHX35 functions as a co-sensor for RIG-I-mediated innate immunity. 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": 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": 23, "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": "A2RTX3;B4E0J0;F5GXM6;Q5THR0;Q9H4H7;Q9H6T6", "ec_number_list": "5.6.2.4;3.6.1.-;3.6.4.-;3.6.4.13;2.3.2.27;3.6.4.6;3.6.1.5;2.7.7.7;2.7.7.49;3.6.4.10;3.1.3.1;3.9.1.1;4.2.99.18;5.6.1.6;5.6.2.3;3.1.13.-;2.7.7.48;2.7.7.6;3.6.4.12;3.4.21.53;5.6.2.5;3.1.-.-;3.6.5.-;7.6.2.1;5.2.1.8;7.2.2.-;5.6.2.-;2.3.2.-;2.7.11.1;3.6.1.15;3.1.4.-;3.6.-.-;3.4.24.-;3.1.13.1;5.6.2.6;3.4.-.-;2.7.4.3", "go_molecular_function": "GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0004386 helicase activity;GO:0003724 RNA helicase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0071013 catalytic step 2 spliceosome;GO:0005681 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": 14.5, "record_id": "Q9H5Z1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q14147-1", "uniprot_id": "DHX34_HUMAN", "mass": 128120.0, "length": 1143, "protein_name": "Probable ATP-dependent RNA helicase DHX34", "gene_name": "DHX34", "organism": "Human", "refseq_name": "probable ATP-dependent RNA helicase DHX34", "refseq_ac": "NP_055496", "gene_names_uniprotkb": "DHX34; DDX34; KIAA0134", "gene_names_refseq": "DDX34; DHX34", "protein_names_uniprotkb": "Probable ATP-dependent RNA helicase DHX34; 3.6.4.13; DEAH box protein 34; DExH-box helicase 34", "protein_names_refseq": "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34; DEAH (Asp-Glu-Ala-His) box polypeptide 34; DEAH box protein 34; DEAH-box helicase 34; probable ATP-dependent RNA helicase DHX34; probable ATP-dependent helicase DHX34", "tax_id": 9606, "disease": "", "pathway": " (hsa:9704)", "pathway_count": 1, "publication_count": 44, "publication_id_list": "11237011;18452278;18669648;19651622;19690332;20068231;21406692;23828042;24275569;25220460;25418920;26154972;26811146;26841701;27920218;28218747;28514659;28855257;28904123;29242379;29393594;29632046;30484775;30779550;31154438;31217245;31256877;31844290;32157095;32161166;32357974;32387766;33205750;33537174;33592498;33912179;33936100;33968037;33981976;35051231;35318648;35494241;35768279;36215666", "class_list": "", "function": "A dual role for the RNA helicase DHX34 in NMD and pre-mRNA splicing and its function in hematopoietic differentiation., [RefSeq, PubMed]; DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. It is mapped to the glioma 19q tumor suppressor region and is a tumor suppressor candidate gene. [provided by RefSeq, Jul 2008]., [RefSeq]; DHX34 activates nonsense-mediated mRNA decay by functioning as a scaffold for SMG1-mediated UPF1 phosphorylation via complex formation with SMG1 and UPF1. Publication Status: Online-Only, [RefSeq, PubMed]; DHX34 and NBAS act in concert with core nonsense-mediated mRNA decay factors to co-regulate a large number of endogenous RNA targets., [RefSeq, PubMed]; DHX34 promotes mRNP remodeling and triggers the conversion from the SURF complex to the DECID complex resulting in NMD activation., [RefSeq, PubMed]; Missense mutation in DHX34 gene is associated with neurodevelopmental disorder., [RefSeq, PubMed]; Probable ATP-binding RNA helicase required for nonsense-mediated decay (NMD) degradation of mRNA transcripts containing premature stop codons (PubMed:25220460, PubMed:33205750). Promotes the phosphorylation of UPF1 along with its interaction with key NMD pathway proteins UPF2 and EIF4A3 (PubMed:25220460). Interaction with the RUVBL1-RUVBL2 complex results in loss of nucleotide binding ability and ATP hydrolysis of the complex (PubMed:33205750). Negatively regulates the nucleotide binding ability and ATP hydrolysis of the RUVBL1-RUVBL2 complex via induction of N-terminus conformation changes of the RUVBL2 subunits (PubMed:33205750)., [UniProtKB, PubMed, PubMed]; Regulation of RUVBL1-RUVBL2 AAA-ATPases by the nonsense-mediated mRNA decay factor DHX34, as evidenced by Cryo-EM. 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": 4, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 22, "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": "B4DMY8", "ec_number_list": "5.6.2.4;3.6.1.-;3.6.4.-;3.6.4.13;3.6.4.6;3.6.1.5;2.7.7.7;2.7.7.49;3.6.4.10;3.1.3.1;3.9.1.1;4.2.99.18;5.6.1.6;5.6.2.3;3.6.4.12;3.4.21.53;5.6.2.5;3.1.-.-;3.6.5.-;7.6.2.1;2.3.2.27;7.2.2.-;5.6.2.-;2.3.2.-;2.7.11.1;3.6.1.15;3.1.4.-;3.6.-.-;3.4.24.-;3.1.13.1;5.6.2.6;3.4.-.-;2.7.4.3", "go_molecular_function": "GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0044877 protein-containing complex binding;GO:0004386 helicase activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;GO:0042327 positive regulation of phosphorylation;GO:0000956 nuclear-transcribed mRNA catabolic process;GO:2000623 negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q14147-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NR56-1", "uniprot_id": "MBNL1_HUMAN", "mass": 41817.0, "length": 388, "protein_name": "Muscleblind-like protein 1", "gene_name": "MBNL1", "organism": "Human", "refseq_name": "muscleblind-like protein 1 isoform 8", "refseq_ac": "NP_001300986", "gene_names_uniprotkb": "MBNL1; EXP; KIAA0428; MBNL", "gene_names_refseq": "EXP; MBNL1; MBNL", "protein_names_uniprotkb": "Muscleblind-like protein 1; Triplet-expansion RNA-binding protein", "protein_names_refseq": "muscleblind-like protein 1 isoform 8; muscleblind-like; triplet-expansion RNA-binding protein", "tax_id": 9606, "disease": "myotonic dystrophy type 2 (Disease Ontology:DOID:0050759); Fuchs' endothelial dystrophy (Disease Ontology:DOID:11555); myotonic dystrophy type 1 (Disease Ontology:DOID:11722); dilated cardiomyopathy (Disease Ontology:DOID:12930); myotonic disease (Disease Ontology:DOID:450); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:4154)", "pathway_count": 1, "publication_count": 84, "publication_id_list": "10970838;11237011;11590133;11929853;15257297;16946708;18335541;19043415;19470458;23186163;23301498;23481700;24715725;25576301;25593321;26154972;26992070;27222292;27846572;27862975;28228285;28510447;28832583;28904123;29242379;29314611;29351928;29393594;29437277;29485866;29493099;29508533;29557506;29632711;29769354;29786170;30192525;30315122;30484775;30524438;31020640;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33592498;33936100;33968037;34019948;34171305;34185709;34357683;34509645;34725712;34932366;35051231;35138101;35154160;35251023;35580925;36010968;36284347;36575942;37548402;37938771;38665916;38769028;39258536;39326259;39531497;40596516", "class_list": "", "function": "CUG repeat RNA-dependent proteasomal degradation of MBNL1 in a cellular model of myotonic dystrophy type 1., [RefSeq, PubMed]; Involvement of circRNA Regulators MBNL1 and QKI in the Progression of Esophageal Squamous Cell Carcinoma., [RefSeq, PubMed]; MBNL splicing factors regulate the microtranscriptome of skeletal muscles., [RefSeq, PubMed]; MBNL-dependent impaired development within the neuromuscular system in myotonic dystrophy type 1., [RefSeq, PubMed]; Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. Regulates the TNNT2 exon 5 skipping through competition with U2AF2. Inhibits the formation of the spliceosome A complex on intron 4 of TNNT2 pre-mRNA. Binds to the stem-loop structure within the polypyrimidine tract of TNNT2 intron 4 during spliceosome assembly. Binds to the 5'-YGCU(U/G)Y-3'consensus sequence. Binds to the IR RNA. Binds to expanded CUG repeat RNA, which folds into a hairpin structure containing GC base pairs and bulged, unpaired U residues. Together with RNA binding proteins RBPMS and RBFOX2, activates vascular smooth muscle cells alternative splicing events (PubMed:37548402). Regulates NCOR2 alternative splicing (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; This gene encodes a member of the muscleblind protein family which was initially described in Drosophila melanogaster. The encoded protein is a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Mice lacking this gene exhibited muscle abnormalities and cataracts. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. The different isoforms are thought to have different binding specificities and/or splicing activities. [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": 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": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "E9PBW7;O43311;O43797;Q86UV8;Q86UV9;Q96P92;Q96RE3", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0003725 double-stranded RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0010494 cytoplasmic stress granule", "go_biological_process": "GO:0001701 in utero embryonic development;GO:0006397 mRNA processing;GO:0007399 nervous system development;GO:0030326 embryonic limb morphogenesis;GO:0008380 RNA splicing", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "Q9NR56-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NUK0-1", "uniprot_id": "MBNL3_HUMAN", "mass": 38532.0, "length": 354, "protein_name": "Muscleblind-like protein 3", "gene_name": "MBNL3", "organism": "Human", "refseq_name": "muscleblind-like protein 3 isoform 5", "refseq_ac": "NP_001164174", "gene_names_uniprotkb": "MBNL3; CHCR; MBLX39; MBXL", "gene_names_refseq": "CHCR; MBLX39; MBLX; MBNL3; MBXL", "protein_names_uniprotkb": "Muscleblind-like protein 3; Cys3His CCG1-required protein; Muscleblind-like X-linked protein; Protein HCHCR", "protein_names_refseq": "Cys3His CCG1-required protein; muscleblind-like 3; muscleblind-like X-linked protein; muscleblind-like protein 3 isoform 5; muscleblind-like protein 3", "tax_id": 9606, "disease": "myotonic dystrophy type 2 (Disease Ontology:DOID:0050759); myotonic dystrophy type 1 (Disease Ontology:DOID:11722); dilated cardiomyopathy (Disease Ontology:DOID:12930); myotonic disease (Disease Ontology:DOID:450)", "pathway": " (hsa:55796)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "11237011;11929853;12297108;15257297;17102799;22869377;23481700;24715725;25576301;25645385;26992070;27920218;28218747;28228285;28514659;28553938;28832583;28904123;29242379;29371260;29393594;29485866;29557506;29632046;29786170;30315122;30779550;31154438;31217245;31844290;31848261;32001790;32157095;32161166;33298915;33537174;33936100;34561969;36010968", "class_list": "", "function": "KANSL2 and MBNL3 are regulators of pancreatic ductal adenocarcinoma invasion. Publication Status: Online-Only, [RefSeq, PubMed]; MBNL proteins promote opposite splicing patterns for cardiac troponin T and insulin receptor alternative exons, [RefSeq, PubMed]; Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. May play a role in myotonic dystrophy pathophysiology (DM). Could inhibit terminal muscle differentiation, acting at approximately the time of myogenin induction., [UniProtKB, PubMed, PubMed]; Results suggest that CHCR is an inhibitor of myogenesis, [RefSeq, PubMed]; The MBNL3 splicing factor promotes hepatocellular carcinoma by increasing pacillin expression through the alternative splicing of lncRNA-PXN-AS1., [RefSeq, PubMed]; This gene encodes a member of the muscleblind-like family of proteins. The encoded protein may function in regulation of alternative splicing and may play a role in the pathophysiology of myotonic dystrophy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Dec 2009]., [RefSeq]; We exclude MBNL3 as the causative gene in this family. 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": "Q5JXN8;Q5JXN9;Q5JXP4;Q6UDQ1;Q8IUR4;Q8TAD9;Q8TAF4;Q9H0Z7;Q9UF37", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006397 mRNA processing;GO:0008380 RNA splicing;GO:0043484 regulation of RNA splicing", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q9NUK0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NEP3-1", "uniprot_id": "DAAF1_HUMAN", "mass": 80026.0, "length": 725, "protein_name": "Dynein axonemal assembly factor 1", "gene_name": "DNAAF1", "organism": "Human", "refseq_name": "dynein axonemal assembly factor 1 isoform 2", "refseq_ac": "NP_001305685", "gene_names_uniprotkb": "DNAAF1; LRRC50", "gene_names_refseq": "CILD13; DAU1; DNAAF1; LRRC50; ODA7; swt", "protein_names_uniprotkb": "Dynein axonemal assembly factor 1; Leucine-rich repeat-containing protein 50", "protein_names_refseq": "dynein assembly factor 1, axonemal; dynein axonemal assembly factor 1 isoform 2; leucine-rich repeat-containing protein 50; outer row dynein assembly 7 homolog; testicular tissue protein Li 110", "tax_id": 9606, "disease": "idiopathic scoliosis (Disease Ontology:DOID:0060250); primary ciliary dyskinesia 13 (Disease Ontology:DOID:0110618); seminoma (Disease Ontology:DOID:4440); testicular germ cell cancer (Disease Ontology:DOID:5557); autosomal dominant polycystic kidney disease (Disease Ontology:DOID:898)", "pathway": " (hsa:123872)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11237011;18385425;18491316;19944400;19944405;25186273;25576301;27543293;27996046;28832583;29228333;29242379;29557506;30939186;32488085;33968037;33981976;35580925;39894887", "class_list": "", "function": "Cilium-specific protein required for the stability of the ciliary architecture. Plays a role in cytoplasmic preassembly of dynein arms. Involved in regulation of microtubule-based cilia and actin-based brush border microvilli., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport, [RefSeq, PubMed]; DNAAF1 mRNA expression is significantly reduced in the anterior horn in sporadic amyotrophic lateral sclerosis patients., [RefSeq, PubMed]; It is proposed that LRRC50 to be a novel candidate gene for human cystic kidney disease, involved in regulation of microtubule-based cilia and actin-based brush border microvilli, [RefSeq, PubMed]; LRRC50 plays a role in assembly of distinct dynein-arm complexes, [RefSeq, PubMed]; LRRC50, a member of the leucine-rich-repeat superfamily, has a key role in cytoplasmic preassembly of dynein arms, [RefSeq, PubMed]; Our findings here demonstrate that mutations in the motile cilia gene DNAAF1 could contribute to the pathogenesis of NTDs. Publication Status: Online-Only, [RefSeq, PubMed]; The most significantly mutated cilia-microtubule gene in testicular germ cell tumors is DNAAF1 with biallelic inactivation and loss of DNAAF1 expression shown in tumors from carriers. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is cilium-specific and is required for the stability of the ciliary architecture. It is involved in the regulation of microtubule-based cilia and actin-based brush border microvilli. Mutations in this gene are associated with primary ciliary dyskinesia-13. 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": 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": 7, "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": "B4DJA3;Q69YI8;Q69YJ0;Q69YW5;Q96LP3;Q96MB6", "ec_number_list": "", "go_molecular_function": "GO:0070840 dynein complex binding", "go_cellular_component": "GO:0000922 spindle pole;GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005930 axoneme;GO:0005929 cilium", "go_biological_process": "GO:0060972 left/right pattern formation;GO:0030324 lung development;GO:0060271 cilium assembly;GO:0007368 determination of left/right symmetry;GO:0001947 heart looping", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q8NEP3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5T7N3-1", "uniprot_id": "KANK4_HUMAN", "mass": 107342.0, "length": 995, "protein_name": "KN motif and ankyrin repeat domain-containing protein 4", "gene_name": "KANK4", "organism": "Human", "refseq_name": "KN motif and ankyrin repeat domain-containing protein 4 isoform 2", "refseq_ac": "NP_001307198", "gene_names_uniprotkb": "KANK4; ANKRD38", "gene_names_refseq": "ANKRD38; KANK4; dJ1078M7.1", "protein_names_uniprotkb": "KN motif and ankyrin repeat domain-containing protein 4; Ankyrin repeat domain-containing protein 38", "protein_names_refseq": "KN motif and ankyrin repeat domain-containing protein 4 isoform 2; KN motif and ankyrin repeat domain-containing protein 4; ankyrin repeat domain 38; ankyrin repeat domain-containing protein 38; kidney ankyrin repeat-containing protein 4", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:163782)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "10.1101/2023.09.13.557529;11237011;17996375;25961457;27600516;29242379;29485866;29493099;29557506;29786170;29913199;31217245;31844290;32897882;33968037;35051231;36010968;38211648;38253038;38622256", "class_list": "", "function": "Biomarkers suitable for the assessment of chronological ageing were identified, and extrapolated to the context of photo-damaged skin. In particular, KANK4, ACAN, Col XI alpha1, and PSG1, were expressed at an increased level in both chronologically-aged and photo-damaged skin., [RefSeq, PubMed]; DHCR7 promotes lymph node metastasis in cervical cancer through cholesterol reprogramming-mediated activation of the KANK4/PI3K/AKT axis and VEGF-C secretion., [RefSeq, PubMed]; Exclusive expression of KANK4 promotes myofibroblast mobility in keloid tissues. Publication Status: Online-Only, [RefSeq, PubMed]; Identified recessive mutations in kidney ankyrin repeat-containing protein 1 (KANK1), KANK2, and KANK4 in individuals with nephrotic syndrome., [RefSeq, PubMed]; May be involved in the control of cytoskeleton formation by regulating actin polymerization., [UniProtKB, PubMed, 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": 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": 36, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B1ALP7;Q6P9A0;Q86T71;Q86VE6;Q8NAX3", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005856 cytoskeleton", "go_biological_process": "GO:0030837 negative regulation of actin filament polymerization", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q5T7N3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y446-1", "uniprot_id": "PKP3_HUMAN", "mass": 87082.0, "length": 797, "protein_name": "Plakophilin-3", "gene_name": "PKP3", "organism": "Human", "refseq_name": "plakophilin-3 isoform PKP3b", "refseq_ac": "NP_001289958", "gene_names_uniprotkb": "PKP3", "gene_names_refseq": "PKP3", "protein_names_uniprotkb": "Plakophilin-3", "protein_names_refseq": "plakophilin 3b; plakophilin-3 isoform PKP3b", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041)", "pathway": " (hsa:11187); (R-HSA-6805567); (R-HSA-6809371)", "pathway_count": 3, "publication_count": 111, "publication_id_list": "10066784;10196183;10231017;10374265;10381383;10411887;10588656;10771479;11237011;11350120;11380615;11590230;12707304;12902340;15033990;15337775;15373777;15797384;15803139;15951569;16061697;16344560;16382671;16497976;16639001;1691188;1694855;16964243;17016520;1714783;17322306;17389395;17515931;17521629;17562024;17596512;17924679;18452278;18669648;18691976;18843291;19190773;19194479;19651622;19664994;19664995;20068231;20179351;20613778;20657595;20667819;20859650;20940292;21406692;21439340;21654840;21997417;23186163;23481192;23629652;24124604;24129315;2414304;24178805;25208567;25208914;25225333;25501895;25576301;25926655;26390218;27862975;29242379;29393594;29557506;29678907;29786170;29789417;29930882;30397120;30484775;30779550;30833945;30949721;32350084;32488085;33123756;33968037;33981976;34019948;34058472;34087483;34171305;34260281;34415821;35051231;35251023;35318648;35580925;36215666;36241641;36284347;38048779;40136647;41350704;7543090;8824274;8999895;9395522;9468612;9565599", "class_list": "", "function": "A catenin of the plakophilin-subfamily, Pkp3, responds to canonical-Wnt pathway components and signals., [RefSeq, PubMed]; A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion (PubMed:24124604). Required for the localization of DSG2, DSP and PKP2 to mature desmosome junctions (PubMed:20859650). May also play a role in the maintenance of DSG3 protein abundance in keratinocytes (By similarity). Required for the formation of DSP-containing desmosome precursors in the cytoplasm during desmosome assembly (PubMed:25208567). Also regulates the accumulation of CDH1 to mature desmosome junctions, via cAMP-dependent signaling and its interaction with activated RAP1A (PubMed:25208567). Positively regulates the stabilization of PKP2 mRNA and therefore protein abundance, via its interaction with FXR1, may also regulate the protein abundance of DSP via the same mechanism (PubMed:25225333). May also regulate the protein abundance of the desmosome component PKP1 (By similarity). Required for the organization of desmosome junctions at intercellular borders between basal keratinocytes of the epidermis, as a result plays a role in maintenance of the dermal barrier and regulation of the dermal inflammatory response (By similarity). Required during epidermal keratinocyte differentiation for cell adherence at tricellular cell-cell contacts, via regulation of the timely formation of adherens junctions and desmosomes in a calcium-dependent manner, and may also play a role in the organization of the intracellular actin fiber belt (By similarity). Acts as a negative regulator of the inflammatory response in hematopoietic cells of the skin and intestine, via modulation of proinflammatory cytokine production (By similarity). Important for epithelial barrier maintenance in the intestine to reduce intestinal permeability, thereby plays a role in protection from intestinal-derived endotoxemia (By similarity). Required for the development of hair follicles, via a role in the regulation of inner root sheaf length, correct alignment and anterior-posterior polarity of hair follicles (By similarity). Promotes proliferation and cell-cycle G1/S phase transition of keratinocytes (By similarity). Promotes E2F1-driven transcription of G1/S phase promoting genes by acting to release E2F1 from its inhibitory interaction with RB1, via sequestering RB1 and CDKN1A to the cytoplasm and thereby increasing CDK4- and CDK6-driven phosphorylation of RB1 (By similarity). May act as a scaffold protein to facilitate MAPK phosphorylation of RPS6KA protein family members and subsequently promote downstream EGFR signaling (By similarity). May play a role in the positive regulation of transcription of Wnt-mediated TCF-responsive target genes (PubMed:34058472)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Disease-related blood-based differential methylation in cystic fibrosis and its representation in lung cancer revealed a regulatory locus in PKP3 in lung epithelial cells., [RefSeq, PubMed]; PKP3, whose desmosomal expression and protein interactions are broader than those of PKP1 and -2, is a unique multiprotein binding element in many epithelial desmosomes., [RefSeq, PubMed]; Plakophilin 3 and Par3 facilitate desmosomes' association with the apical junctional complex., [RefSeq, PubMed]; Role and function of plakophilin 3 in cancer progression and skin disease. Review article, [RefSeq, PubMed]; This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This protein may act in cellular desmosome-dependent adhesion and signaling pathways. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 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": 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": 1, "reported_glycation": 0, "reported_snv": 19, "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": "F8J390;Q53EX8", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0019899 enzyme binding;GO:0045296 cadherin binding;GO:0050839 cell adhesion molecule binding;GO:0098641 cadherin binding involved in cell-cell adhesion", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005911 cell-cell junction", "go_biological_process": "GO:0022409 positive regulation of cell-cell adhesion;GO:0002718 regulation of cytokine production involved in immune response;GO:0045785 positive regulation of cell adhesion;GO:0072659 protein localization to plasma membrane;GO:0030036 actin cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 11.6, "record_id": "Q9Y446-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q14990-1", "uniprot_id": "ODFP1_HUMAN", "mass": 28366.0, "length": 250, "protein_name": "Outer dense fiber protein 1", "gene_name": "ODF1", "organism": "Human", "refseq_name": "outer dense fiber protein 1", "refseq_ac": "NP_077721", "gene_names_uniprotkb": "ODF1; HSPB10; ODFP", "gene_names_refseq": "CT133; HSPB10; ODF1; ODF27; ODFPGA; ODFPGB; ODFPG; ODFP; ODF; RT7; SODF", "protein_names_uniprotkb": "Outer dense fiber protein 1; Heat shock protein beta-10; Heat shock protein family B member 10; HspB10", "protein_names_refseq": "cancer/testis antigen 133; heat shock protein beta-10; heat shock protein family B member 10; outer dense fiber of sperm tails, 27-kD; outer dense fiber protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:4956)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;17762160;21597245;27363428;27770032;28411811;32869188;33968037;39386799;8111388;8305202", "class_list": "", "function": "Component of the outer dense fibers (ODF) of spermatozoa. ODF are filamentous structures located on the outside of the axoneme in the midpiece and principal piece of the mammalian sperm tail and may help to maintain the passive elastic structures and elastic recoil of the sperm tail., [UniProtKB]; Overexpression of ODF1 in Gastrointestinal Tract Neuroendocrine Neoplasms: a Novel Potential Immunohistochemical Biomarker for Well-differentiated Neuroendocrine Tumors., [RefSeq, PubMed]; Study provides evidence that ODF1 down regulation is responsible for male infertility. Erratum:[Mol Cell Proteomics. 2017 Jun;16(6):1172. doi: 10.1074/mcp.A116.060343. PMID: 28572402], [RefSeq, PubMed]; The outer dense fibers are cytoskeletal structures that surround the axoneme in the middle piece and principal piece of the sperm tail. The fibers function in maintaining the elastic structure and recoil of the sperm tail as well as in protecting the tail from shear forces during epididymal transport and ejaculation. Defects in the outer dense fibers lead to abnormal sperm morphology and infertility. The human outer dense fibers contains at least 10 major proteins and this gene encodes the main protein. [provided by RefSeq, Jul 2008]., [RefSeq]; Thiols of flagellar proteins, such as outer dense fibre protein 1 (ODF1), are oxidised to form disulfides during epididymal transit and the spermatozoa become motile. This study was designed to determine how oxidative changes in protein thiol status affect progressive motility in spermatozoa., [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": 11, "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": "Q3SX72", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0001520 outer dense fiber;GO:0005634 nucleus;GO:0005813 centrosome;GO:0036126 sperm flagellum;GO:0002177 manchette", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q14990-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3B8N2-1", "uniprot_id": "LEG9B_HUMAN", "mass": 39660.0, "length": 356, "protein_name": "Galectin-9B", "gene_name": "LGALS9B", "organism": "Human", "refseq_name": "galectin-9B isoform 2", "refseq_ac": "NP_001036150", "gene_names_uniprotkb": "LGALS9B", "gene_names_refseq": "LGALS9B", "protein_names_uniprotkb": "Galectin-9B; Gal-9B; Galectin-9-like protein A", "protein_names_refseq": "gal-9B; galectin-9 like; galectin-9 pseudogene; galectin-9-like protein A; galectin-9B isoform 2; lectin, galactoside-binding, soluble, 9B", "tax_id": 9606, "disease": "", "pathway": " (hsa:284194)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "11237011;23481700;24715725;25576301;27920218;28228285;28446606;28832583;28904123;29242379;29314611;29393594;29508533;29557506;29632046;29632711;29786170;29789417;30410026;31844290;32350084;33141586;33392160;34357683;35051231;35154160;35251023", "class_list": "glycogene", "function": "Binds galactosides., [UniProtKB]; 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 centromeric 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": 423, "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": "A6NLF8;A8K2J8", "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": 2.8, "record_id": "Q3B8N2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86Y56-1", "uniprot_id": "DAAF5_HUMAN", "mass": 93521.0, "length": 855, "protein_name": "Dynein axonemal assembly factor 5", "gene_name": "DNAAF5", "organism": "Human", "refseq_name": "dynein axonemal assembly factor 5", "refseq_ac": "NP_060272", "gene_names_uniprotkb": "DNAAF5; HEATR2", "gene_names_refseq": "CILD18; DNAAF5; HEATR2", "protein_names_uniprotkb": "Dynein axonemal assembly factor 5; HEAT repeat-containing protein 2", "protein_names_refseq": "HEAT repeat containing 2; HEAT repeat-containing protein 2; dynein assembly factor 5, axonemal; dynein axonemal assembly factor 5", "tax_id": 9606, "disease": "primary ciliary dyskinesia 18 (Disease Ontology:DOID:0110604); male infertility (Disease Ontology:DOID:12336); primary ciliary dyskinesia (Disease Ontology:DOID:9562)", "pathway": " (hsa:54919)", "pathway_count": 1, "publication_count": 82, "publication_id_list": "11237011;17322306;18767875;20068231;22223895;22424782;22544926;23040496;23481700;24366607;24715725;25232951;25418920;25576301;25645385;26154972;26811146;26992070;27600516;27846572;27893789;27920218;28218747;28228285;28510447;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29786170;30192525;30315122;30410026;30524438;31020640;31217245;31611695;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34357683;34405274;34433824;34509645;34561969;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;37217939;37938771", "class_list": "", "function": "Cytoplasmic protein involved in the delivery of the dynein machinery to the motile cilium. It is required for the assembly of the axonemal dynein inner and outer arms, two structures attached to the peripheral outer doublet A microtubule of the axoneme, that play a crucial role in cilium motility., [UniProtKB, PubMed, PubMed]; Identification of HEATR2 contributes to the growing number of genes associated with PCD identified in both individuals and model organisms and shows that exome sequencing in family studies facilitates the discovery of novel disease-causing gene mutations., [RefSeq, PubMed]; The protein encoded by this gene is essential for the preassembly or stability of axonemal dynein arms, and is found only in organisms with motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia-18, a disorder characterized by abnormalities of motile cilia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 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": 3, "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": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q69YL1;Q96FI9;Q9NX75", "ec_number_list": "", "go_molecular_function": "GO:0045505 dynein intermediate chain binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0120293 dynein axonemal particle", "go_biological_process": "GO:0003341 cilium movement;GO:0036158 outer dynein arm assembly;GO:0036159 inner dynein arm assembly", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "Q86Y56-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A1B0GVH7-1", "uniprot_id": "IQCM_HUMAN", "mass": 59586.0, "length": 501, "protein_name": "IQ domain-containing protein M", "gene_name": "IQCM", "organism": "Human", "refseq_name": "IQ domain-containing protein M isoform 1", "refseq_ac": "NP_001350436", "gene_names_uniprotkb": "IQCM", "gene_names_refseq": "IQCM", "protein_names_uniprotkb": "IQ domain-containing protein M", "protein_names_refseq": "IQ domain-containing protein M isoform 1; iQ domain-containing protein M", "tax_id": 9606, "disease": "", "pathway": " (hsa:285423)", "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": "A0A1B0GVH7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60259-1", "uniprot_id": "KLK8_HUMAN", "mass": 28048.0, "length": 260, "protein_name": "Kallikrein-8", "gene_name": "KLK8", "organism": "Human", "refseq_name": "kallikrein-8 isoform 1 preproprotein", "refseq_ac": "NP_009127", "gene_names_uniprotkb": "KLK8; NRPN; PRO322; PRSS19; TADG14", "gene_names_refseq": "HNP; KLK8; NP; NRPN; PRSS19; TADG14", "protein_names_uniprotkb": "Kallikrein-8; 3.4.21.118; NP; Neuropsin; Ovasin; Serine protease 19; Serine protease TADG-14; Tumor-associated differentially expressed gene 14 protein; hK8", "protein_names_refseq": "kallikrein-8 isoform 1 preproprotein; kallikrein-8; ovasin; serine protease 19; serine protease TADG-14; tumor-associated differentially expressed gene 14 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:11202); (R-HSA-6809371)", "pathway_count": 2, "publication_count": 65, "publication_id_list": "10066784;10102990;10196183;10231017;10411887;10485494;10588656;10771479;11054574;11237011;11309326;11350120;11380615;11522960;11590230;12147714;12782581;12902340;12975309;15033990;15282331;15337775;15797384;15803139;16061697;16337200;16639001;17487847;17515931;17562024;17596512;17761692;18843291;19190773;19194479;20179351;20360129;20657595;20667819;20940292;21439340;21654840;21997417;23629652;25576301;25926655;26390218;29786170;30379171;30779550;31844290;34185709;34552064;34715912;35318648;35580925;35820483;37812360;38273291;7543090;8824274;8999895;9395522;9565599;9714609", "class_list": "", "function": "CircSSPO boosts growth of esophageal squamous cell carcinoma through upregulation of micrRNA-6820-5p-mediated KLK8 and PKD1 expression., [RefSeq, PubMed]; DNA methylation of the KLK8 gene in depression symptomatology. Publication Status: Online-Only, [RefSeq, PubMed]; KLK8 promotes the proliferation and metastasis of colorectal cancer via the activation of EMT associated with PAR1. Publication Status: Online-Only, [RefSeq, PubMed]; Kallikrein 8: A key sheddase to strengthen and stabilize neural plasticity. Review article, [RefSeq, PubMed]; Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in tandem in a gene cluster on chromosome 19. The encoded protein may be involved in proteolytic cascade in the skin and may serve as a biomarker for ovarian cancer. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]., [RefSeq]; Serine protease which is capable of degrading a number of proteins such as casein, fibrinogen, kininogen, fibronectin and collagen type IV. Also cleaves L1CAM in response to increased neural activity. Induces neurite outgrowth and fasciculation of cultured hippocampal neurons. Plays a role in the formation and maturation of orphan and small synaptic boutons in the Schaffer-collateral pathway, regulates Schaffer-collateral long-term potentiation in the hippocampus and is required for memory acquisition and synaptic plasticity. Involved in skin desquamation and keratinocyte proliferation. Plays a role in the secondary phase of pathogenesis following spinal cord injury., [UniProtKB, PubMed]; The KLK8-T4 alternative splice variant, alone or in combination, may be a new independent marker of unfavorable prognosis in lung cancer., [RefSeq, PubMed]; Tumor-derived KLK8 predicts inferior survival and promotes an immune-suppressive tumor microenvironment in lung squamous cell carcinoma. 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": 6, "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": "Q5V9X1;Q5V9X2;Q8IW69;Q9HCB3;Q9NR68;Q9NR69;Q9UIL9;Q9UQ47", "ec_number_list": "3.4.21.118;3.4.21.-", "go_molecular_function": "GO:0004252 serine-type endopeptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0030141 secretory granule;GO:0097180 serine protease inhibitor complex", "go_biological_process": "GO:0006508 proteolysis;GO:0007613 memory;GO:0048812 neuron projection morphogenesis;GO:0009611 response to wounding;GO:0051604 protein maturation", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "O60259-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6PID8-1", "uniprot_id": "KLD10_HUMAN", "mass": 49098.0, "length": 442, "protein_name": "Kelch domain-containing protein 10", "gene_name": "KLHDC10", "organism": "Human", "refseq_name": "kelch domain-containing protein 10", "refseq_ac": "NP_055812", "gene_names_uniprotkb": "KLHDC10; KIAA0265", "gene_names_refseq": "KLHDC10; PNAS-138; slim", "protein_names_uniprotkb": "Kelch domain-containing protein 10", "protein_names_refseq": "PNAS-119; kelch domain-containing protein 10; scruin like at the midline homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:23008); (R-HSA-9954709)", "pathway_count": 2, "publication_count": 54, "publication_id_list": "11237011;14962666;23102700;23481700;23685075;24715725;25132172;25418920;25578875;25645385;26154972;26992070;27600516;27862975;28228285;28832583;28834231;28904123;29242379;29557506;29632312;29779948;29786170;30244831;30315122;30429286;31011209;31154438;31844290;32157095;32161166;32357974;32387766;32488085;32897882;32938616;32983136;33141586;33298915;33406423;33909987;33912179;33968037;34087483;34171305;34509645;34932366;35051231;35318648;35580925;36010968;36241641;37676773;39548056", "class_list": "", "function": "Mechanism and evolutionary origins of alanine-tail C-degron recognition by E3 ligases Pirh2 and CRL2-KLHDC10., [RefSeq, PubMed]; Substrate-recognition component of a Cul2-RING (CRL2) E3 ubiquitin-protein ligase complex of the DesCEND (destruction via C-end degrons) pathway, which recognizes a C-degron located at the extreme C-terminus of target proteins, leading to their ubiquitination and degradation (PubMed:29779948, PubMed:33909987). The C-degron recognized by the DesCEND pathway is usually a motif of less than ten residues and can be present in full-length proteins, truncated proteins or proteolytically cleaved forms (PubMed:29779948, PubMed:33909987, PubMed:39548056). The CRL2(KLHDC10) complex specifically recognizes proteins with a proline-glycine (Pro-Gly) or an alanine tail (CAT tail) at the C-terminus, leading to their ubiquitination and degradation (PubMed:29779948, PubMed:33909987). The CRL2(KLHDC10) complex is involved in the ribosome-associated quality control (RQC) pathway, which mediates the extraction of incompletely synthesized nascent chains from stalled ribosomes: CRL2(KLHDC10) acts downstream of NEMF and recognizes CAT tails associated with stalled nascent chains, leading to their ubiquitination and degradation (PubMed:33909987). Participates in the oxidative stress-induced cell death through MAP3K5 activation (PubMed:23102700). Inhibits PPP5C phosphatase activity on MAP3K5 (PubMed:23102700). Acts as a regulator of necroptosis (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Suggest that Slim/KLHDC10 is an activator of ASK1, contributing to oxidative stress-induced cell death through the suppression of PP5., [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": 1, "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": "Q86Y99;Q92554", "ec_number_list": "", "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0031462 Cul2-RING ubiquitin ligase complex", "go_biological_process": "GO:0072344 rescue of stalled ribosome;GO:0016567 protein ubiquitination;GO:1990116 ribosome-associated ubiquitin-dependent protein catabolic process;GO:0032874 positive regulation of stress-activated MAPK cascade;GO:0140627 ubiquitin-dependent protein catabolic process via the C-end degron rule pathway", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q6PID8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0AUZ9-1", "uniprot_id": "KAL1L_HUMAN", "mass": 112253.0, "length": 987, "protein_name": "KAT8 regulatory NSL complex subunit 1-like protein", "gene_name": "KANSL1L", "organism": "Human", "refseq_name": "KAT8 regulatory NSL complex subunit 1-like protein isoform 2", "refseq_ac": "NP_001294905", "gene_names_uniprotkb": "KANSL1L; C2orf67", "gene_names_refseq": "C2orf67; KANSL1L; MSL1v2", "protein_names_uniprotkb": "KAT8 regulatory NSL complex subunit 1-like protein; MSL1v2", "protein_names_refseq": "KAT8 regulatory NSL complex subunit 1-like protein isoform 2; KAT8 regulatory NSL complex subunit 1-like protein; KIAA1267-like; male-specific lethal 1 homolog", "tax_id": 9606, "disease": "Koolen de Vries syndrome (Disease Ontology:DOID:0050880); intellectual disability (Disease Ontology:DOID:1059)", "pathway": " (hsa:151050)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "11237011;19608861;23481700;24145748;26992070;27397612;28832583;28834231;29242379;29557506;30429286;31844290;32157095;32488085;32502341;32897882;32938616;32983136;33298915;33912179;33968037;34932366;35051231;35580925;36010968;36215666", "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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7ZLN1;I6L9A8;Q53TV8;Q53TW3;Q6IS05;Q8TCI1;Q96MI0;Q9UFC3", "ec_number_list": "", "go_molecular_function": "GO:0035035 histone acetyltransferase binding", "go_cellular_component": "GO:0044545 NSL complex;GO:0000123 histone acetyltransferase complex", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "A0AUZ9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95125-1", "uniprot_id": "ZN202_HUMAN", "mass": 74720.0, "length": 648, "protein_name": "Zinc finger protein 202", "gene_name": "ZNF202", "organism": "Human", "refseq_name": "zinc finger protein 202 isoform 1", "refseq_ac": "NP_001288708", "gene_names_uniprotkb": "ZNF202; ZKSCAN10", "gene_names_refseq": "ZKSCAN10; ZNF202; ZSCAN42", "protein_names_uniprotkb": "Zinc finger protein 202; Zinc finger protein with KRAB and SCAN domains 10", "protein_names_refseq": "zinc finger protein 202 isoform 1; zinc finger protein with KRAB and SCAN domains 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:7753); (R-HSA-212436)", "pathway_count": 2, "publication_count": 51, "publication_id_list": "10235266;10330177;10748193;11237011;11279031;11395415;14519192;15175151;15896744;16606702;16719718;20628086;21406692;2163759;23186163;24366607;24715725;25576301;26992070;27920218;28063628;28218747;28228285;28832583;28834231;29242379;29437277;29557506;29632046;29786170;30315122;30410026;30833945;31844290;31848261;32157095;32502341;33141586;33298915;33912179;33936100;33968037;34171305;34932366;35051231;35580925;8183939;8769649;9637681;9653119;9790754", "class_list": "", "function": "Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Transcriptional repressor that binds to elements found predominantly in genes that participate in lipid metabolism. Among its targets are structural components of lipoprotein particles (apolipoproteins AIV, CIII, and E), enzymes involved in lipid processing (lipoprotein lipase, lecithin cholesteryl ester transferase), transporters involved in lipid homeostasis (ABCA1, ABCG1), and several genes involved in processes related to energy metabolism and vascular disease., [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": 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": "B0LPH9;Q4JG21;Q9H1B9;Q9NSM4", "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_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:0006629 lipid metabolic process", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "O95125-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P2X7-1", "uniprot_id": "DEC1_HUMAN", "mass": 7542.0, "length": 70, "protein_name": "Deleted in esophageal cancer 1", "gene_name": "DELEC1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "DELEC1; CTS9; DEC1", "gene_names_refseq": "", "protein_names_uniprotkb": "Deleted in esophageal cancer 1; Candidate tumor suppressor CTS9", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "10612805", "class_list": "", "function": "Candidate tumor suppressor., [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": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0008285 negative regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q9P2X7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P05162-1", "uniprot_id": "LEG2_HUMAN", "mass": 14644.0, "length": 132, "protein_name": "Galectin-2", "gene_name": "LGALS2", "organism": "Human", "refseq_name": "galectin-2", "refseq_ac": "NP_006489", "gene_names_uniprotkb": "LGALS2", "gene_names_refseq": "HL14; LGALS2", "protein_names_uniprotkb": "Galectin-2; Beta-galactoside-binding lectin L-14-II; Gal-2; HL14; Lactose-binding lectin 2; S-Lac lectin 2", "protein_names_refseq": "S-Lac lectin 2; beta-galactoside-binding lectin L-14-II; gal-2; galectin-2; lactose-binding lectin 2; lectin, galactoside-binding, soluble, 2", "tax_id": 9606, "disease": "myocardial infarction (Disease Ontology:DOID:5844)", "pathway": " (hsa:3957)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "10591208;11237011;1375225;15461802;15489334;16959974;18477386;18991276;1988031;27563008;29557506;29789417;3020551;31515488;31608721;32244351;32296183;32983136;33110234;34087483;34371260;35163802;35580925;8262940;8411163", "class_list": "glycogene", "function": "Gene polymorphisms of LGALS2, LGALS3 and LGALS9 in patients with rheumatoid arthritis., [RefSeq, PubMed]; Genome-wide CRISPR screen identifies LGALS2 as an oxidative stress-responsive gene with an inhibitory function on colon tumor growth., [RefSeq, PubMed]; Placental Galectin-2 Expression in Gestational Diabetes: A Systematic, Histological Analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Regulatory T Cell Apoptosis during Preeclampsia May Be Prevented by Gal-2. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a soluble beta-galactoside binding lectin. The encoded protein is found as a homodimer and can bind to lymphotoxin-alpha. A single nucleotide polymorphism in an intron of this gene can alter the transcriptional level of the protein, with a resultant increased risk of myocardial infarction. [provided by RefSeq, Jul 2008]., [RefSeq]; This protein binds beta-galactoside. Its physiological function is not yet known., [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": 179, "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": "Q6FGY4", "ec_number_list": "", "go_molecular_function": "GO:0030246 carbohydrate binding;GO:0016936 galactoside binding", "go_cellular_component": "", "go_biological_process": "GO:0043065 positive regulation of apoptotic process;GO:0098609 cell-cell adhesion;GO:0050729 positive regulation of inflammatory response;GO:0043029 T cell homeostasis", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "P05162-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NQT5-1", "uniprot_id": "EXOS3_HUMAN", "mass": 29572.0, "length": 275, "protein_name": "Exosome complex component RRP40", "gene_name": "EXOSC3", "organism": "Human", "refseq_name": "exosome complex component RRP40 isoform 2", "refseq_ac": "NP_001002269", "gene_names_uniprotkb": "EXOSC3; CGI-102; RRP40", "gene_names_refseq": "CGI-102; EXOSC3; PCH1B; RRP40; Rrp40p; bA3J10.7; hRrp-40; p10", "protein_names_uniprotkb": "Exosome complex component RRP40; Exosome component 3; Ribosomal RNA-processing protein 40; p10", "protein_names_refseq": "exosome complex component RRP40 isoform 2; exosome complex component RRP40; exosome complex exonuclease RRP40; ribosomal RNA-processing protein 40", "tax_id": 9606, "disease": "pontocerebellar hypoplasia type 1B (Disease Ontology:DOID:0060266); stomach cancer (Disease Ontology:DOID:10534)", "pathway": " (hsa:51010); (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": 193, "publication_id_list": "10330172;10465791;10958673;11110791;11237011;11283721;11719186;11782436;11922599;12068309;12150911;12198173;12324455;12639954;12646273;12705825;12748283;14688255;14731398;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;18334637;18367721;18438418;18441014;18481987;18684992;18840095;19056938;19060886;19106111;19141871;19198587;19225159;19239894;19332556;19564402;19729507;19801658;19854161;20022965;20038530;20056613;20361218;20531386;20531389;20798176;20805244;20819938;21036871;21063389;21097556;21255825;21515746;21705430;21855801;21876179;22072790;22190735;22195017;22223895;22544365;22802018;22819556;22916032;22978410;23223233;23269699;23301498;23439679;23481700;23482395;2388630;24424021;24550520;24714562;24715725;25418920;25525153;25576301;25578728;25645385;25841024;25969445;26154972;26237581;26375851;2663993;2664463;26992070;27397612;27434818;27600516;27846572;27862975;27871484;28204585;28228285;28510447;28832583;28834231;28904123;29298432;29393594;29413899;29493099;29557506;29632046;29632711;29786170;29906447;30410026;30429286;30484775;30779550;31154438;31217245;31222486;31844290;31848261;31950173;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32502341;3260265;32983136;33298915;33592498;33633747;33717175;33767452;33912179;33913806;33936100;33981976;34019948;34171305;34626022;35051231;35251023;35522339;35580925;36241641;36284347;37541260;37875486;37938771;38665916;39176091;40914422;9482744", "class_list": "", "function": "Aberrant expression of MYD88 via RNA-controlling CNOT4 and EXOSC3 in colonic mucosa impacts generation of colonic cancer., [RefSeq, PubMed]; Atypical hemolytic uremic syndrome induced by SARS-CoV2 infection in infants with EXOSC3 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. EXOSC3 as peripheral part of the Exo-9 complex stabilizes the hexameric ring of RNase PH-domain subunits through contacts with EXOSC9 and EXOSC5., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Potentially functional variants of INPP5D and EXOSC3 in immunity B cell-related genes are associated with non-small cell lung cancer survival. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a non-catalytic component of the human exosome, a complex with 3'-5' exoribonuclease activity that plays a role in numerous RNA processing and degradation activities. Related pseudogenes of this gene are found on chromosome 19 and 21. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 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": 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": "A8K0K6;Q5QP85;Q9Y3A8", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0000175 3'-5'-RNA exonuclease activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006396 RNA processing;GO:0006402 mRNA catabolic process;GO:0000956 nuclear-transcribed mRNA catabolic process;GO:0045190 isotype switching;GO:0006364 rRNA processing", "synthesized_glycan_count": 0, "hit_score": 19.7, "record_id": "Q9NQT5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NZV8-1", "uniprot_id": "KCND2_HUMAN", "mass": 70537.0, "length": 630, "protein_name": "A-type voltage-gated potassium channel KCND2", "gene_name": "KCND2", "organism": "Human", "refseq_name": "A-type voltage-gated potassium channel KCND2", "refseq_ac": "NP_036413", "gene_names_uniprotkb": "KCND2; KIAA1044", "gene_names_refseq": "KCND2; KV4.2; RK5", "protein_names_uniprotkb": "A-type voltage-gated potassium channel KCND2; Potassium voltage-gated channel subfamily D member 2; Voltage-gated potassium channel subunit Kv4.2", "protein_names_refseq": "A-type voltage-gated potassium channel KCND2; potassium channel, voltage gated Shal related subfamily D, member 2; voltage-gated potassium channel subunit Kv4.2; voltage-sensitive potassium channel", "tax_id": 9606, "disease": "", "pathway": " (hsa:3751); (R-HSA-1296072); (R-HSA-5576894)", "pathway_count": 3, "publication_count": 56, "publication_id_list": "10551270;10676964;10729221;11080179;11102480;11237011;11287421;11423117;11507158;11847232;12395204;12451113;12829703;14623880;14695263;14980201;14980207;1519755;15358149;15454437;15991246;16251476;16934482;17057713;17187064;17917103;18357523;19171772;19213956;20045463;20393197;21231794;23481700;24366607;24501278;24811166;25892735;26154972;27846572;27920218;28904123;29508533;29632046;29769354;31844290;32265295;32641494;32977724;33298915;33717175;33912179;34245260;34357683;34552243;35597238;9843794", "class_list": "", "function": "KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating., [RefSeq, PubMed]; Modulation of Kv4.2/KChIP3 interaction by the ceroid lipofuscinosis neuronal 3 protein CLN3., [RefSeq, PubMed]; Potassium voltage-gated channel subfamily D member 2 induces an aggressive phenotype in lung adenocarcinoma., [RefSeq, PubMed]; Structural basis of gating modulation of Kv4 channel complexes., [RefSeq, PubMed]; Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This member mediates a rapidly inactivating, A-type outward potassium current which is not under the control of the N terminus as it is in Shaker channels. [provided by RefSeq, Jul 2008]., [RefSeq]; Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain. Mediates the major part of the dendritic A-type current I(SA) in brain neurons (By similarity). This current is activated at membrane potentials that are below the threshold for action potentials. It regulates neuronal excitability, prolongs the latency before the first spike in a series of action potentials, regulates the frequency of repetitive action potential firing, shortens the duration of action potentials and regulates the back-propagation of action potentials from the neuronal cell body to the dendrites. Contributes to the regulation of the circadian rhythm of action potential firing in suprachiasmatic nucleus neurons, which regulates the circadian rhythm of locomotor activity (By similarity). Functions downstream of the metabotropic glutamate receptor GRM5 and plays a role in neuronal excitability and in nociception mediated by activation of GRM5 (By similarity). Mediates the transient outward current I(to) in rodent heart left ventricle apex cells, but not in human heart, where this current is mediated by another family member. Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient (PubMed:10551270, PubMed:11507158, PubMed:14623880, PubMed:14695263, PubMed:14980201, PubMed:15454437, PubMed:16934482, PubMed:19171772, PubMed:24501278, PubMed:24811166, PubMed:34552243, PubMed:35597238). The channel alternates between opened and closed conformations in response to the voltage difference across the membrane (PubMed:11507158). Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCND2 and KCND3; channel properties depend on the type of pore-forming alpha subunits that are part of the channel. In vivo, membranes probably contain a mixture of heteromeric potassium channel complexes. Interaction with specific isoforms of the regulatory subunits KCNIP1, KCNIP2, KCNIP3 or KCNIP4 strongly increases expression at the cell surface and thereby increases channel activity; it modulates the kinetics of channel activation and inactivation, shifts the threshold for channel activation to more negative voltage values, shifts the threshold for inactivation to less negative voltages and accelerates recovery after inactivation (PubMed:14623880, PubMed:14980201, PubMed:15454437, PubMed:19171772, PubMed:24501278, PubMed:24811166). Likewise, interaction with DPP6 or DPP10 promotes expression at the cell membrane and regulates both channel characteristics and activity (By similarity). Upon depolarization, the channel goes from a resting closed state (C state) to an activated but non-conducting state (C* state), from there, the channel may either inactivate (I state) or open (O state) (PubMed:35597238)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, 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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 12, "reported_mutagensis": 30, "reported_glycation": 0, "reported_snv": 32, "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": "O95012;O95021;Q2TBD3;Q9UBY7;Q9UN98;Q9UNH9", "ec_number_list": "1.8.-.-", "go_molecular_function": "GO:0046872 metal ion binding;GO:1905030 voltage-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential;GO:0005249 voltage-gated potassium channel activity;GO:0005250 A-type (transient outward) potassium channel activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0005886 plasma membrane;GO:0043025 neuronal cell body;GO:0043197 dendritic spine", "go_biological_process": "GO:0006936 muscle contraction;GO:0019228 neuronal action potential;GO:0051260 protein homooligomerization;GO:0001508 action potential;GO:0007268 chemical synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q9NZV8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UM54-3", "uniprot_id": "MYO6_HUMAN", "mass": 149691.0, "length": 1294, "protein_name": "Unconventional myosin-VI", "gene_name": "MYO6", "organism": "Human", "refseq_name": "unconventional myosin-VI isoform 2", "refseq_ac": "NP_001287828", "gene_names_uniprotkb": "MYO6; KIAA0389", "gene_names_refseq": "DFNA22; DFNB37; MYO6", "protein_names_uniprotkb": "Unconventional myosin-VI; Unconventional myosin-6", "protein_names_refseq": "unconventional myosin-6; unconventional myosin-VI isoform 2; unconventional myosin-VI", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness 37 (Disease Ontology:DOID:0110495); autosomal dominant nonsyndromic deafness 22 (Disease Ontology:DOID:0110552); sensorineural hearing loss (Disease Ontology:DOID:10003); prostate cancer (Disease Ontology:DOID:10283); hypertension (Disease Ontology:DOID:10763); ovarian cancer (Disease Ontology:DOID:2394)", "pathway": " (hsa:4646); (R-HSA-190873); (R-HSA-399719); (R-HSA-9013418); (R-HSA-9013420); (R-HSA-9013422)", "pathway_count": 6, "publication_count": 120, "publication_id_list": "10519557;11447109;11459829;11468689;11967127;12687499;15044955;15060111;15107402;15247260;15350535;15556869;16344560;16507995;16949370;17108328;17504809;18311135;18511944;18835386;19064640;20547754;21508312;21565175;22645359;23023224;23186163;23481700;24275569;24608665;24714562;25469497;25576301;25892735;26024233;26375851;26598620;26728094;26992070;27314390;27397612;27600516;27846572;27920218;27941885;28063628;28218747;28228285;28514659;28832583;28834231;28855257;28904123;29242379;29331515;29467281;29493099;29557506;29632046;29769354;29786170;30315122;30379171;30410026;30620550;30779550;30833945;30896450;31154438;31217245;31371777;31431478;31530632;31844290;31848261;31871319;31998317;32157095;32161166;32350084;32357974;32387766;32737221;32938616;33298915;33592498;33633747;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34229054;34357683;34509645;34725712;34932366;35051231;35138101;35154160;35251023;35318648;35494241;35561310;35580925;36010968;36241641;36284347;37872146;37938771;39019031;39302247;39449086;40596516;41350704;9259267;9852149", "class_list": "", "function": "How myosin VI traps its off-state, is activated and dimerizes. Publication Status: Online-Only, [RefSeq, PubMed]; MYO6 contributes to tumor progression and enzalutamide resistance in castration-resistant prostate cancer by activating the focal adhesion signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Myosins are actin-based motor molecules with ATPase activity (By similarity). Unconventional myosins serve in intracellular movements (By similarity). Myosin 6 is a reverse-direction motor protein that moves towards the minus-end of actin filaments (PubMed:10519557). Has slow rate of actin-activated ADP release due to weak ATP binding (By similarity). Functions in a variety of intracellular processes such as vesicular membrane trafficking and cell migration (By similarity). Required for the structural integrity of the Golgi apparatus via the p53-dependent pro-survival pathway (PubMed:16507995). Appears to be involved in a very early step of clathrin-mediated endocytosis in polarized epithelial cells (PubMed:11447109). Together with TOM1, mediates delivery of endocytic cargo to autophagosomes thereby promoting autophagosome maturation and driving fusion with lysosomes (PubMed:23023224). Links TOM1 with autophagy receptors, such as TAX1BP1; CALCOCO2/NDP52 and OPTN (PubMed:31371777). May act as a regulator of F-actin dynamics (By similarity). As part of the DISP complex, may regulate the association of septins with actin and thereby regulate the actin cytoskeleton (PubMed:29467281). May play a role in transporting DAB2 from the plasma membrane to specific cellular targets (By similarity). May play a role in the extension and network organization of neurites (By similarity). Required for structural integrity of inner ear hair cells (By similarity). Required for the correct localization of CLIC5 and RDX at the stereocilium base (By similarity). Modulates RNA polymerase II-dependent transcription (PubMed:16949370)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Targeted Next-Generation Sequencing Analysis Reveals a Novel Genetic Variant in MYO6 Gene in an Indian Family with Postlingual Nonsyndromic Hearing Loss., [RefSeq, PubMed]; This gene encodes a reverse-direction motor protein that moves toward the minus end of actin filaments and plays a role in intracellular vesicle and organelle transport. The protein consists of a motor domain containing an ATP- and an actin-binding site and a globular tail which interacts with other proteins. This protein maintains the structural integrity of inner ear hair cells and mutations in this gene cause non-syndromic autosomal dominant and recessive hearing loss. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 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": 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": 6, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A6H8V4;E1P540;Q5TEM5;Q5TEM6;Q5TEM7;Q9BZZ7;Q9UEG2", "ec_number_list": "", "go_molecular_function": "GO:0003779 actin binding;GO:0005516 calmodulin binding;GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0051015 actin filament binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0042491 inner ear auditory receptor cell differentiation;GO:0006886 intracellular protein transport;GO:0006897 endocytosis;GO:0007015 actin filament organization;GO:0042472 inner ear morphogenesis", "synthesized_glycan_count": 0, "hit_score": 12.6, "record_id": "Q9UM54-3", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NP85-1", "uniprot_id": "PODO_HUMAN", "mass": 42201.0, "length": 383, "protein_name": "Podocin", "gene_name": "NPHS2", "organism": "Human", "refseq_name": "podocin isoform 2", "refseq_ac": "NP_001284504", "gene_names_uniprotkb": "NPHS2", "gene_names_refseq": "NPHS2; PDCN; SRN1", "protein_names_uniprotkb": "Podocin", "protein_names_refseq": "NPHS2, podocin; nephrosis 2, idiopathic, steroid-resistant (podocin); podocin isoform 2", "tax_id": 9606, "disease": "nephrotic syndrome type 2 (Disease Ontology:DOID:0080379); membranous glomerulonephritis (Disease Ontology:DOID:10976); nephrotic syndrome (Disease Ontology:DOID:1184); proteinuria (Disease Ontology:DOID:576)", "pathway": " (hsa:7827); (R-HSA-373753)", "pathway_count": 2, "publication_count": 55, "publication_id_list": "10393930;10541305;10611248;10742096;11241850;11340081;11562357;11729243;11733557;12464671;12660326;12668668;12687458;12846735;12865409;14570703;14633607;15253708;15331416;15545998;15579503;15634346;15843475;15954915;15994232;16525419;16543952;16630808;17893108;17899208;17923684;18033240;19443634;20233749;20798252;20947785;21722858;22565185;22578956;23242530;23595123;23648087;23800802;23913389;24072147;24227627;24509478;26420286;27004616;29557506;30484775;36167728;37014572;37670083;37995908", "class_list": "", "function": "A second short isoform of podocin was found to be expressed in the kidney. Publication Status: Online-Only, [RefSeq, PubMed]; A small molecule chaperone rescues keratin-8 mediated trafficking of misfolded podocin to correct genetic Nephrotic Syndrome., [RefSeq, PubMed]; Analysis of the association of NPHS2 and ACTN4 genes polymorphism with nephrotic syndrome in Egyptian children., [RefSeq, PubMed]; Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families., [RefSeq, PubMed]; First evidence of podocin mutations in sporadic steroid-resistant nephrotic syndrome., [RefSeq, PubMed]; Kidney Organoids Generated Using an Allelic Series of NPHS2 Point Variants Reveal Distinct Intracellular Podocin Mistrafficking., [RefSeq, PubMed]; Observational study of genotype prevalence. (HuGE Navigator), [RefSeq, PubMed]; Plays a role in the regulation of glomerular permeability, acting probably as a linker between the plasma membrane and the cytoskeleton., [UniProtKB]; This gene encodes a protein that plays a role in the regulation of glomerular permeability. Mutations in this gene cause steroid-resistant nephrotic syndrome. Alternative 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B1AM32;B1AM33;Q8N6Q5", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0045121 membrane raft;GO:0070062 extracellular exosome", "go_biological_process": "GO:0030036 actin cytoskeleton organization;GO:0003094 glomerular filtration;GO:0072249 metanephric podocyte development", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q9NP85-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P11908-1", "uniprot_id": "PRPS2_HUMAN", "mass": 34769.0, "length": 318, "protein_name": "Ribose-phosphate pyrophosphokinase 2", "gene_name": "PRPS2", "organism": "Human", "refseq_name": "ribose-phosphate pyrophosphokinase 2 isoform 1", "refseq_ac": "NP_001034180", "gene_names_uniprotkb": "PRPS2", "gene_names_refseq": "PRPS2; PRSII", "protein_names_uniprotkb": "Ribose-phosphate pyrophosphokinase 2; 2.7.6.1; PPRibP; PRS-II; Phosphoribosyl pyrophosphate synthase II", "protein_names_refseq": "PPRibP synthetase; PRS-II; phosphoribosyl pyrophosphate synthase II; ribose-phosphate diphosphokinase 2; ribose-phosphate pyrophosphokinase 2 isoform 1; ribose-phosphate pyrophosphokinase 2; testicular secretory protein Li 41", "tax_id": 9606, "disease": "", "pathway": " (hsa:5634); (R-HSA-73843)", "pathway_count": 2, "publication_count": 61, "publication_id_list": "11237011;1314091;2538352;2560337;26375851;26811146;27846572;28228285;28446606;28510447;28514659;28832583;28834231;28904123;29074724;29242379;29393594;29557506;29786170;30315122;30410026;30484775;30833945;31020640;31154438;31844290;32119511;32157095;32350084;32357974;32488085;32897882;32938616;32983136;33346415;33493137;33537174;33589531;33592498;33691108;33968037;34087483;34171305;34185709;34211107;34357683;34561969;34932366;35051231;35138101;35154160;35251023;35580925;36010968;36215666;36284347;37938771;38253038;40596516;40914422;4328836", "class_list": "", "function": "Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis., [UniProtKB]; PRPS1-mediated purine biosynthesis is critical for pluripotent stem cell survival and stemness., [RefSeq, PubMed]; Role of PRPS2 as a prognostic and therapeutic target in osteosarcoma. Erratum:[J Clin Pathol. 2021 Aug;74(8):e12. doi: 10.1136/jclinpath-2020-206505corr1. PMID: 34282027], [RefSeq, PubMed]; This gene encodes a phosphoribosyl pyrophosphate synthetase that plays a central role in the synthesis of purines and pyrimidines. The encoded protein catalyzes the synthesis of 5-phosphoribosyl 1-pyrophosphate from ATP and D-ribose 5-phosphate. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]., [RefSeq]; [Expression of phosphoribosyl pyrophosphate synthase 2 in human testis tissue]., [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": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q0VDH9;Q0VDI0;Q15245;Q2TAK7", "ec_number_list": "2.7.6.1", "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:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006098 pentose-phosphate shunt;GO:0009156 ribonucleoside monophosphate biosynthetic process;GO:0006139 nucleobase-containing compound metabolic process;GO:0006015 5-phosphoribose 1-diphosphate biosynthetic process;GO:0006164 purine nucleotide biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "P11908-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BTL3-1", "uniprot_id": "RAMAC_HUMAN", "mass": 14381.0, "length": 118, "protein_name": "RNA guanine-N7 methyltransferase activating subunit", "gene_name": "RAMAC", "organism": "Human", "refseq_name": "RNA guanine-N7 methyltransferase activating subunit", "refseq_ac": "NP_113640", "gene_names_uniprotkb": "RAMAC; C15orf18; FAM103A1; RAMMET", "gene_names_refseq": "C15orf18; FAM103A1; HsT19360; RAMAC; RAMMET; RAM", "protein_names_uniprotkb": "RNA guanine-N7 methyltransferase activating subunit; Protein FAM103A1; RAM; RNA guanine-7 methyltransferase activating subunit; RNMT-activating mRNA cap methyltransferase subunit; RNMT-activating mini protein", "protein_names_refseq": "RNA guanine-N7 methyltransferase activating subunit; RNMT activating mRNA cap methyltransferase subunit; RNMT-activating mini protein; family with sequence similarity 103 member A1; protein FAM103A1", "tax_id": 9606, "disease": "", "pathway": " (hsa:83640)", "pathway_count": 1, "publication_count": 71, "publication_id_list": "18220336;18452278;18669648;19690332;20068231;22099306;22645359;23186163;24129315;24200467;24714562;25418920;25576301;25645385;25880248;25892735;26375851;26728094;26811146;26992070;27422871;27503676;27600516;27846572;27862975;27934633;28228285;28649982;28832583;28855257;29242379;29331515;29393594;29493099;29508533;29557506;29769354;29786170;30315122;30379171;30524438;30779550;30833945;31154438;31217245;31222486;31329932;31844290;31848261;32157095;32265295;32357974;32502341;32938616;32983136;33123756;33592498;33691108;33717175;33912179;33968037;33981976;34019948;34087483;34171305;34932366;35051231;35318648;35580925;36284347;36581221", "class_list": "", "function": "Data suggest that RAM/FAM103A1 has three domains: N-terminal activation domain (RAD); central RNA-binding domain (NR domain); and C-terminal nuclear localization domain (QYP) which contains two nuclear localization signal sequences., [RefSeq, PubMed]; Mechanism of allosteric activation of human RNMT by RAM has been reported., [RefSeq, PubMed]; RAM is an essential component of the core gene expression machinery, [RefSeq, PubMed]; RNMT-RAM complex coordinates mRNA processing with ribosome production., [RefSeq, PubMed]; Regulatory subunit of the mRNA-capping methyltransferase RNMT:RAMAC complex that methylates the N7 position of the added guanosine to the 5'-cap structure of mRNAs (PubMed:22099306, PubMed:27422871). Promotes the recruitment of the methyl donor, S-adenosyl-L-methionine, to RNMT (PubMed:27422871). Regulates RNMT expression by a post-transcriptional stabilizing mechanism (PubMed:22099306). Binds RNA (PubMed:22099306)., [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": 2, "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": "Q2M1J8", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0008047 enzyme activator activity;GO:0140677 molecular function activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0031533 mRNA capping enzyme complex;GO:0160130 mRNA cap methyltransferase RNMT:RAMAC complex", "go_biological_process": "GO:0006370 7-methylguanosine mRNA capping;GO:0106005 RNA 5'-cap (guanine-N7)-methylation", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q9BTL3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H6I2-1", "uniprot_id": "SOX17_HUMAN", "mass": 44117.0, "length": 414, "protein_name": "Transcription factor SOX-17", "gene_name": "SOX17", "organism": "Human", "refseq_name": "transcription factor SOX-17", "refseq_ac": "NP_071899", "gene_names_uniprotkb": "SOX17", "gene_names_refseq": "PPH7; SOX17; VUR3", "protein_names_uniprotkb": "Transcription factor SOX-17", "protein_names_refseq": "SRY (sex determining region Y)-box 17; SRY-box 17; SRY-related HMG-box transcription factor SOX17; transcription factor SOX-17", "tax_id": 9606, "disease": "intracranial aneurysm (Disease Ontology:DOID:10941); biliary atresia (Disease Ontology:DOID:13608); patent ductus arteriosus (Disease Ontology:DOID:13832); primary pulmonary hypertension (Disease Ontology:DOID:14557); cholangiocarcinoma (Disease Ontology:DOID:4947); pulmonary hypertension (Disease Ontology:DOID:6432); vesicoureteral reflux (Disease Ontology:DOID:9620); pulmonary hypertension, primary, 7 (MONDO:MONDO:0979237)", "pathway": " (hsa:64321); (R-HSA-3769402); (R-HSA-9823730); (R-HSA-9827857); (R-HSA-9937080)", "pathway_count": 5, "publication_count": 72, "publication_id_list": "10549281;10898789;10921920;10944533;11691915;11786926;12408824;12408825;12712206;14600025;14685266;15132997;15327769;15525529;16510874;17204604;17218525;17412698;17698607;17875931;18378692;18456656;18573912;18598779;18819930;19047045;19364920;19564924;19590513;19928349;19940019;20960469;21245162;21630377;21855631;22304967;24291232;25543152;25843708;26015544;26189426;27592148;27705785;28566479;28985527;29091993;29557506;29650961;29713018;30429286;30590035;30629940;31848261;32127035;32795420;32938616;33470497;33608411;33936100;33952808;34065661;34342803;35051231;35411086;35580925;35618278;37576970;37737027;37895315;38418875;38503291;38518781", "class_list": "", "function": "Acts as a transcription regulator that binds target promoter DNA (PubMed:33952808). Binds to the sequences 5'-AACAAT-'3 or 5'-AACAAAG-3'. Modulates transcriptional regulation via WNT3A. Inhibits Wnt signaling. Promotes degradation of activated CTNNB1. Plays a key role in the regulation of embryonic development. Required for normal development of the definitive gut endoderm. Required for normal looping of the embryonic heart tube. Plays an important role in embryonic and postnatal vascular development, including development of arteries. Plays an important role in postnatal angiogenesis, where it is functionally redundant with SOX18. Required for the generation and maintenance of fetal hematopoietic stem cells, and for fetal hematopoiesis. Probable transcriptional activator in the premeiotic germ cells., [UniProtKB, UniProtKB, PubMed]; Direct programming of human pluripotent stem cells into endothelial progenitors with SOX17 and FGF2., [RefSeq, PubMed]; E2F1 Mediates SOX17 Deficiency-Induced Pulmonary Hypertension., [RefSeq, PubMed]; SOX17 enables immune evasion of early colorectal adenomas and cancers., [RefSeq, PubMed]; SOX17/ETV2 improves the direct reprogramming of adult fibroblasts to endothelial cells., [RefSeq, PubMed]; The dynamic expression of SOX17 in germ cells from human female foetus and adult ovaries after specification. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. [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": 47, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 8, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "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:0008013 beta-catenin binding;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005667 transcription regulator complex;GO:0000785 chromatin", "go_biological_process": "GO:0043279 response to alkaloid;GO:0060214 endocardium formation;GO:0001714 endodermal cell fate specification;GO:0061031 endodermal digestive tract morphogenesis;GO:0060913 cardiac cell fate determination", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q9H6I2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5T751-1", "uniprot_id": "LCE1C_HUMAN", "mass": 11543.0, "length": 118, "protein_name": "Late cornified envelope protein 1C", "gene_name": "LCE1C", "organism": "Human", "refseq_name": "late cornified envelope protein 1C isoform 1", "refseq_ac": "NP_848128", "gene_names_uniprotkb": "LCE1C; LEP3", "gene_names_refseq": "LCE1C; LEP3", "protein_names_uniprotkb": "Late cornified envelope protein 1C; Late envelope protein 3", "protein_names_refseq": "late cornified envelope protein 1C isoform 1; late cornified envelope protein 1C; late envelope protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:353133); (R-HSA-6809371)", "pathway_count": 2, "publication_count": 44, "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;20643763;20657595;20667819;20940292;21439340;21654840;21997417;23629652;25926655;26390218;28510447;29397434;29559659;36804407;7543090;8824274;8999895;9395522;9565599", "class_list": "", "function": "Genetic polymorphism is associated with psoriasis vulgaris among Mongolians from Inner Mongolia, [RefSeq, PubMed]; Luciferase reporter assays using the promoter region of the LCE1C gene confirmed that the phosphorylations of TAp63-T46/T281 contributed to full transcriptional activation of the LCE1C gene. LCE1C interacted with protein arginine methyltransferase 5 (PRMT5) and translocated it from the nucleus to the cytoplasm. Publication Status: Online-Only, [RefSeq, PubMed]; 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": 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": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0031424 keratinization", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q5T751-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P62263-1", "uniprot_id": "RS14_HUMAN", "mass": 16273.0, "length": 151, "protein_name": "Small ribosomal subunit protein uS11", "gene_name": "RPS14", "organism": "Human", "refseq_name": "small ribosomal subunit protein uS11", "refseq_ac": "NP_001020241", "gene_names_uniprotkb": "RPS14; PRO2640", "gene_names_refseq": "EMTB; RPS14; S14; uS11", "protein_names_uniprotkb": "Small ribosomal subunit protein uS11; 40S ribosomal protein S14", "protein_names_refseq": "40S ribosomal protein S14; emetine resistance; small ribosomal subunit protein uS11", "tax_id": 9606, "disease": "myelodysplastic syndrome (Disease Ontology:DOID:0050908); chromosome 5q deletion syndrome (Disease Ontology:DOID:0090016); anemia (Disease Ontology:DOID:2355)", "pathway": " (hsa:6208); (R-HSA-156827); (R-HSA-156902); (R-HSA-1799339); (R-HSA-192823); (R-HSA-2408557); (R-HSA-6790901); (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": 22, "publication_count": 314, "publication_id_list": "10.1101/2023.09.13.557529;10358005;10364207;10606270;10659855;1095581;10970870;10982836;11018020;11018027;1104615;11081632;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11922599;11935223;11964406;11978965;12068309;12150911;12417715;12417735;12493757;12554878;12588972;12718880;12832468;12853463;1400365;14527413;14567916;14630918;14636577;14654843;14742663;14973490;15034551;15199136;15317934;15385533;1549121;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16381836;16452507;16469117;16601204;16622410;16630668;16738141;16782898;16912115;16989641;17053788;17142313;17189298;17267404;17287340;17352659;17353269;17363904;17412707;17636026;17726049;17803942;17893241;18065403;18066079;18088087;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18448518;18455985;18524595;18539146;1856230;1861871;18657639;18669648;18691976;18974281;19033376;19060897;19106111;19150429;19332556;19359157;19417104;19463982;19478851;19503078;19556969;19564402;19608919;19706539;19801658;19838190;19859661;19909264;20023408;20038530;20047967;20056613;2006156;20068230;20068231;20112406;20220067;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;20934997;21029861;21036871;21063389;21097556;21145460;21419344;21740066;22072790;22121020;22174690;22190735;22195017;22855488;22916032;23035226;23085078;23186163;23217742;23234702;23269699;23391857;23439679;23482395;23636399;23746841;2388630;24086612;24275569;24366607;24397554;24424021;24524803;24550520;25132172;25242263;25411247;25432065;25525153;25576301;25653167;25802875;25810538;25851604;25969445;26085946;26154972;26196125;26237581;26374642;26375851;26758079;26992070;27084949;27452731;27526673;27600516;27846572;27862975;27920218;28065601;28132843;28218747;28228285;28685749;28832583;28904123;29242379;29317506;29393594;29413899;29493099;29508533;29557506;29632046;29632711;30192525;30293783;30315122;30444036;30484775;30524438;30804176;30833945;31154438;31217245;31530632;31611695;31844290;32099016;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32579943;32680882;32897882;32908316;32938616;32983136;32995776;32995777;33043033;33080218;33188728;33214551;33268501;33289941;33298915;33392160;33479166;33592498;33691108;33912179;33936100;33968037;34019948;34171305;34315815;34357683;34373319;34516797;34624207;34725712;35051231;35083852;35154160;35251023;3529092;35318648;35561310;35580925;36215666;36241641;36302773;36535509;36610391;37217939;3785212;37938771;38189915;38665916;39395807;429297;592398;592399;641056;6568109;6853548;6901506;7000367;7990965;8336711;8407925;8706699;8890909;8943342;9045610;9211906;9211966;9431993;9482744;9512526;9631292;9637248;9712840;9732867;9857202", "class_list": "", "function": "Component of the small ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome (PubMed:34516797)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Genome-wide functional integration identified MAZ-controlled RPS14 dysregulation in hepatocellular carcinoma., [RefSeq, PubMed]; RPS14 promotes the development and progression of glioma via p53 signaling pathway., [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 S11P family of ribosomal proteins. It is located in the cytoplasm. Transcript variants utilizing alternative transcription initiation sites have been described in the literature. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. In Chinese hamster ovary cells, mutations in this gene can lead to resistance to emetine, a protein synthesis inhibitor. Multiple 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": 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": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2R5G5;D3DQG5;P06366;Q5BJI0", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0048027 mRNA 5'-UTR binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0030218 erythrocyte differentiation;GO:0006412 translation;GO:0002181 cytoplasmic translation;GO:0042274 ribosomal small subunit biogenesis", "synthesized_glycan_count": 0, "hit_score": 31.9, "record_id": "P62263-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P31431-1", "uniprot_id": "SDC4_HUMAN", "mass": 21642.0, "length": 198, "protein_name": "Syndecan-4", "gene_name": "SDC4", "organism": "Human", "refseq_name": "syndecan-4 precursor", "refseq_ac": "NP_002990", "gene_names_uniprotkb": "SDC4", "gene_names_refseq": "SDC4; SYND4", "protein_names_uniprotkb": "Syndecan-4; Amphiglycan; Ryudocan core protein; SYND4", "protein_names_refseq": "ryudocan amphiglycan; ryudocan core protein; syndecan 4 (amphiglycan, ryudocan); syndecan proteoglycan 4; syndecan-4 precursor", "tax_id": 9606, "disease": "bacterial infectious disease (Disease Ontology:DOID:104); myocardial infarction (Disease Ontology:DOID:5844)", "pathway": " (hsa:6385); (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-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": 396, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10026158;10052934;10318803;10446189;10466419;10473568;10480354;10506123;10606205;10639137;10644753;10677367;10716625;10764623;10769148;10842173;11027606;11035113;11060341;11087757;11099377;11169766;11181758;11207550;11238108;11256994;11274177;11274389;11279150;11337487;11390981;11391482;11456484;11477410;11551958;11564780;11607032;11747608;11779189;11812992;11833835;11877387;11916978;12052963;12070135;12138164;12208882;12213822;12441129;12469115;12492399;12522689;12682107;12782713;1279089;12842047;12907439;12927802;12975610;14519844;14529530;14615387;14675776;14681059;14762106;14976204;14976261;14982929;14993226;15000751;1500433;15010527;15082721;15084397;15098107;15140961;15163706;15211654;15294915;15358783;1542003;15461586;15474033;15479743;15507651;15528364;15583000;15607426;15647514;15681301;15721307;15838506;1591491;16007225;16151907;16161994;1618828;16200213;16258728;16297198;16343444;16533050;16585556;16619025;16691243;16737840;16783819;16939223;16945929;16960811;16962401;17016520;17033958;17064312;17099249;17116209;17167768;17172599;17194707;17314405;17322099;17379836;17389395;17442946;17452516;17505016;17506785;17525477;17525755;17563375;17580308;17598008;17600130;17615384;17625065;17635713;17644776;18083107;18087047;18266465;18295589;18420935;18446792;18460466;18507396;1856611;1874730;19014918;1902833;19139408;19279206;19297154;1930190;19344451;1946389;19473117;2040636;20410276;20427285;20554947;20560209;20560210;20576607;20650889;20691685;21068237;21106934;21193412;2122463;21325420;21659548;21700882;21763480;21851338;21911577;21932952;22090124;22144186;2248955;22496216;22618708;22652793;22660413;2271516;22786881;22810237;22816037;23006890;23084921;23105391;23453597;23584533;23621622;23656592;23658209;23664117;23664118;23683607;2384594;23945545;24043627;24074594;24106281;24227843;24425863;24443026;24554904;24715725;24764293;25260916;2538457;25521717;25576301;25713144;25813380;25854864;25855704;26056282;26092250;26154972;26212330;26311884;26468529;26953343;2704749;27108190;271951;27277342;27397612;27550352;27832191;27893789;27920218;2793848;28132690;28148688;29419409;29427996;29437578;29557506;29610346;2963012;29632711;29742433;29786170;29789417;29902443;30459171;30471091;3052293;30599162;30918026;31003762;31154438;31262782;31439947;31611695;31720911;31844290;31848261;32125455;32142651;32157095;32179150;32337544;32350084;32362314;32404004;32512386;32532959;32653452;32703818;3275472;32897882;32938616;32970989;32995803;33082293;33082294;33123756;33159882;33177556;33298900;33493182;33493263;33494095;33554856;33592498;33774649;33936100;33968037;34023935;34159616;34171305;34179075;34235261;34235568;34324210;34431042;34433824;34510494;34542788;34561887;34611326;34732583;34782609;34929169;35051231;35215846;35251023;3527261;35318648;35343766;35580925;35676258;36102648;36213313;36215666;36241641;36284347;36334036;36834552;36951953;3714052;37155874;3744129;37726033;37925034;38241528;3863104;3942763;4345202;468991;5057882;5675424;6323392;6420172;6496574;6961410;6980899;7493035;7499257;7509040;7521878;7550340;7601448;7683668;7711731;7916598;8017323;8144529;8163559;8166770;8314844;8384721;8578528;8598903;8609172;8639673;8639781;8728311;8776591;8782816;8797100;8889549;8894688;8981950;9052782;9115237;9169435;9169774;9218519;9242610;9285796;9295288;9326317;9346953;9382878;9459334;9463333;9469622;9506957;9535912;9556568;9620772;9693095;9763524;9888420;9892646;9915799;9920938;9925661;9931503;9988767", "class_list": "glycogene", "function": "Association between syndecan-4 and subclinical atherosclerosis in ankylosing spondylitis., [RefSeq, PubMed]; Cell surface proteoglycan which regulates exosome biogenesis in concert with SDCBP and PDCD6IP (PubMed:22660413)., [UniProtKB, PubMed]; Insufficient Syndecan-4 is associated with chronic lung disease development in preterm infants., [RefSeq, PubMed]; Syndecan-4 Mediates the Cellular Entry of Adeno-Associated Virus 9. Publication Status: Online-Only, [RefSeq, PubMed]; Syndecan-4 is a maestro of gastric cancer cell invasion and communication that underscores poor survival., [RefSeq, PubMed]; The protein encoded by this gene is a transmembrane (type I) heparan sulfate proteoglycan that functions as a receptor in intracellular signaling. The encoded protein is found as a homodimer and is a member of the syndecan proteoglycan family. This gene is found on chromosome 20, while a pseudogene has been found on chromosome 22. [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": 5, "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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 300, "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": "O00773;Q16833;Q53FN9;Q6FGN3", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0005080 protein kinase C binding;GO:0001968 fibronectin binding;GO:0070053 thrombospondin receptor activity", "go_cellular_component": "GO:0005796 Golgi lumen;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0009986 cell surface;GO:0070062 extracellular exosome", "go_biological_process": "GO:0010762 regulation of fibroblast migration;GO:0016477 cell migration;GO:0042130 negative regulation of T cell proliferation;GO:0051496 positive regulation of stress fiber assembly;GO:0051894 positive regulation of focal adhesion assembly", "synthesized_glycan_count": 0, "hit_score": 40.5, "record_id": "P31431-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5BKY6-1", "uniprot_id": "YV018_HUMAN", "mass": 10947.0, "length": 102, "protein_name": "Putative uncharacterized protein DKFZp434K191", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein DKFZp434K191", "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": "Q5BKY6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H963-1", "uniprot_id": "ZN702_HUMAN", "mass": 15019.0, "length": 129, "protein_name": "Putative zinc finger protein 702", "gene_name": "ZNF702P", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "ZNF702P; ZNF702", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative zinc finger protein 702", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-212436)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "10235266;10330177;11395415;14519192;15175151;15896744;16606702;16719718;2163759;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [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": "Q05BW1", "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", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q9H963-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96CT2-1", "uniprot_id": "KLH29_HUMAN", "mass": 94228.0, "length": 875, "protein_name": "Kelch-like protein 29", "gene_name": "KLHL29", "organism": "Human", "refseq_name": "kelch-like protein 29", "refseq_ac": "NP_443152", "gene_names_uniprotkb": "KLHL29; KBTBD9; KIAA1921", "gene_names_refseq": "KBTBD9; KLHL29", "protein_names_uniprotkb": "Kelch-like protein 29; Kelch repeat and BTB domain-containing protein 9", "protein_names_refseq": "kelch repeat and BTB (POZ) domain containing 9; kelch repeat and BTB domain-containing protein 9; kelch-like 29; kelch-like protein 29", "tax_id": 9606, "disease": "", "pathway": " (hsa:114818)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "11237011;12750860;19240061;19913121;20628086;25418920;25645385;26375851;26811146;27920218;28100790;28514659;28832583;28904123;29393594;30315122;30429286;30484775;31492838;31844290;32157095;32357974;32938616;32983136;33298915;33968037;34019948;34087483;34171305;34185709;35051231;36241641;37845393;38665916", "class_list": "", "function": "Brazilian Amerindian ancestry compared to Asian, European, and African Genomes.SNPs within or proximal to CIITA (rs6498115), SMC6 (rs1834619), and KLHL29 (rs2288697) were most differentiated in the Amerindian-specific branch. SNPs in ADAMTS9 (rs7631391), DOCK2 (rs77594147), SLC28A1 (rs28649017), ARHGAP5 (rs7151991), and CIITA (rs45601437) in the Asian comparison., [RefSeq, PubMed]; KLHL29-mediated DDX3X degradation promotes chemosensitivity by abrogating cell cycle checkpoint in triple-negative breast cancer., [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, 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": 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": 18, "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": "Q8N388;Q96BF0;Q96PW7", "ec_number_list": "", "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0031463 Cul3-RING ubiquitin ligase complex", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q96CT2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IZC7-1", "uniprot_id": "ZN101_HUMAN", "mass": 50339.0, "length": 436, "protein_name": "Zinc finger protein 101", "gene_name": "ZNF101", "organism": "Human", "refseq_name": "zinc finger protein 101 isoform 2", "refseq_ac": "NP_001287878", "gene_names_uniprotkb": "ZNF101", "gene_names_refseq": "HZF12; ZNF101", "protein_names_uniprotkb": "Zinc finger protein 101; Zinc finger protein HZF12", "protein_names_refseq": "zinc finger protein 101 (Y2); zinc finger protein 101 isoform 2; zinc finger protein 12; zinc finger protein HZF12", "tax_id": 9606, "disease": "", "pathway": " (hsa:94039); (R-HSA-212436)", "pathway_count": 2, "publication_count": 26, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;14727140;15175151;15896744;16606702;16719718;17081983;2163759;26992070;28228285;28832583;29242379;29786170;30315122;31844290;32157095;32897882;34171305;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB]; Zinc finger proteins (ZNFs), such as ZNF101, bind nucleic acids and perform many key functions, the most important of which is regulating transcription (summary by Bellefroid et al., 1993 [PubMed 8467795]). See ZNF91 (MIM 603971) for general information on ZNFs.[supplied by OMIM, Nov 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": 1, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "C9JU83;Q0VDG9", "ec_number_list": "", "go_molecular_function": "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:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q8IZC7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P06870-1", "uniprot_id": "KLK1_HUMAN", "mass": 28890.0, "length": 262, "protein_name": "Kallikrein-1", "gene_name": "KLK1", "organism": "Human", "refseq_name": "kallikrein-1 preproprotein", "refseq_ac": "NP_002248", "gene_names_uniprotkb": "KLK1", "gene_names_refseq": "KLK1; KLKR; Klk6; hK1", "protein_names_uniprotkb": "Kallikrein-1; 3.4.21.35; Kidney/pancreas/salivary gland kallikrein; Tissue kallikrein", "protein_names_refseq": "glandular kallikrein 1; kallikrein 1, renal/pancreas/salivary; kallikrein serine protease 1; kallikrein-1 preproprotein; kidney/pancreas/salivary gland kallikrein; tissue kallikrein", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); hypertension (Disease Ontology:DOID:10763); pancreatitis (Disease Ontology:DOID:4989); myocardial infarction (Disease Ontology:DOID:5844); end stage renal disease (Disease Ontology:DOID:783); chronic kidney disease (Disease Ontology:DOID:784); kallikrein, decreased urinary activity of (MONDO:MONDO:0014415)", "pathway": " (hsa:3816); (R-HSA-381426); (R-HSA-9925561)", "pathway_count": 3, "publication_count": 94, "publication_id_list": "10026136;10077652;10218588;10512690;10614670;10681634;10810289;10898936;10912521;10951195;10990447;11006094;11054574;11158056;11237011;11250653;11264294;11316783;11522292;11606061;11739083;11751371;11788658;11912256;12241545;12379487;12466191;12810533;12904166;1370451;1383255;15126567;15308688;15469690;15485880;15525596;15642270;15651049;15765151;17047378;17249697;17312271;17985932;23481700;2476804;2479552;26091039;26375851;2666327;2686621;28904123;2898948;29557506;3004571;30315122;30801944;30908937;31369555;3163150;31844290;31848261;31873176;31998317;32502341;33298915;33355364;33397811;33717175;36215666;3635530;3853975;393608;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7683646;7689487;7749372;8416919;8781553;8817670;8894645;8964575;9497324;9709957;9733769;9786878;9922210", "class_list": "", "function": "(Microbial infection) Cleaves Neisseria meningitidis NHBA in saliva; Neisseria is an obligate commensal of the nasopharyngeal mucosa., [UniProtKB, PubMed]; Associations of ACE I/D polymorphism with the levels of ACE, kallikrein, angiotensin II and interleukin-6 in STEMI patients. Publication Status: Online-Only, [RefSeq, PubMed]; Coexpression of tissue kallikrein 1 and tissue inhibitor of matrix metalloproteinase 1 improves myocardial ischemiareperfusion injury by promoting angiogenesis and inhibiting oxidative stress., [RefSeq, PubMed]; Glandular kallikreins cleave Met-Lys and Arg-Ser bonds in kininogen to release Lys-bradykinin., [UniProtKB]; Kallikrein directly interacts with and activates Factor IX, resulting in thrombin generation and fibrin formation independent of Factor XI., [RefSeq, PubMed]; Kallikrein has an apple domain disc with a rotated conformation compared to factor XI, [RefSeq, PubMed]; Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. This protein is functionally conserved in its capacity to release the vasoactive peptide, Lys-bradykinin, from low molecular weight kininogen. [provided by RefSeq, Jul 2008]., [RefSeq]; The findings indicate that KLK1 intervenes early in the antiviral defense modulating the severity of influenza infection. Decreased KLK1 expression in Chronic obstructive pulmonary disease patients could contribute to the worsening of influenza., [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": 3, "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": 4, "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": 15, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 28, "disease_count": 7, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q66US9;Q86U61;Q8TCV8;Q9BS53;Q9NQU4;Q9UD19;Q9UMJ1", "ec_number_list": "3.1.1.4;3.2.1.1;3.4.21.35;3.4.21.77;3.4.21.4;4.6.1.18;3.4.21.71;3.4.21.70;3.4.17.1;3.4.17.2;3.1.1.3;3.1.1.13;3.1.1.6;3.4.21.-;3.4.17.15;3.1.1.26;5.3.4.1;2.1.1.20;3.4.21.2", "go_molecular_function": "GO:0004252 serine-type endopeptidase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0030141 secretory granule;GO:0070062 extracellular exosome", "go_biological_process": "GO:0003073 regulation of systemic arterial blood pressure;GO:0031638 zymogen activation", "synthesized_glycan_count": 0, "hit_score": 13.0, "record_id": "P06870-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H816-1", "uniprot_id": "DCR1B_HUMAN", "mass": 60002.0, "length": 532, "protein_name": "5' exonuclease Apollo", "gene_name": "DCLRE1B", "organism": "Human", "refseq_name": "5' exonuclease Apollo isoform b", "refseq_ac": "NP_001306876", "gene_names_uniprotkb": "DCLRE1B; SNM1B", "gene_names_refseq": "APOLLO; DCLRE1B; DKCB8; SNM1B; SNMIB", "protein_names_uniprotkb": "5' exonuclease Apollo; 3.1.-.-; 3.5.2.6; Beta-lactamase DCLRE1B; DNA cross-link repair 1B protein; SNM1 homolog B; SNMIB; hSNM1B", "protein_names_refseq": "5' exonuclease Apollo isoform b; 5' exonuclease Apollo; DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae); SNM1 homolog B; beta-lactamase DCLRE1B", "tax_id": 9606, "disease": "dyskeratosis congenita (Disease Ontology:DOID:2729); dyskeratosis congenita, autosomal recessive 8 (MONDO:MONDO:0859319)", "pathway": " (hsa:64858); (R-HSA-6783310)", "pathway_count": 2, "publication_count": 104, "publication_id_list": "11237011;11239454;15467758;15572677;16606622;16730175;16730176;16916645;16943440;17289582;17412408;17460694;17525332;17938197;18082604;18174376;18202258;18468965;18469862;18593705;18931676;19111657;19197158;19411856;19561358;19589784;19596236;19995904;20058876;20102227;20347428;20347429;20385554;20479256;20603015;20603016;20603073;20655466;20670894;20671156;21464321;21701511;21764741;22258451;22287633;22396592;22510687;22692201;23325218;23698467;23723247;24076221;24389026;24623813;24715725;24726325;24905007;25418920;25430771;25500724;25576301;26992070;27846572;27920218;28063628;28228285;28832583;28834231;28904123;29242379;29393594;29557506;29632046;29786170;30315122;30429286;31154438;31434986;31844290;32157095;32161166;32265295;32357974;32387766;32488085;33141586;33392160;33633747;33912179;33968037;34087483;34171305;34185709;34211107;34387696;34932366;35007328;35051231;35580925;36010968;37936074;37938771;38407308;38430974", "class_list": "", "function": "5'-3' exonuclease that plays a central role in telomere maintenance and protection during S-phase. Participates in the protection of telomeres against non-homologous end-joining (NHEJ)-mediated repair, thereby ensuring that telomeres do not fuse. Plays a key role in telomeric loop (T loop) formation by being recruited by TERF2 at the leading end telomeres and by processing leading-end telomeres immediately after their replication via its exonuclease activity: generates 3' single-stranded overhang at the leading end telomeres avoiding blunt leading-end telomeres that are vulnerable to end-joining reactions and expose the telomere end in a manner that activates the DNA repair pathways. Together with TERF2, required to protect telomeres from replicative damage during replication by controlling the amount of DNA topoisomerase (TOP1, TOP2A and TOP2B) needed for telomere replication during fork passage and prevent aberrant telomere topology. Also involved in response to DNA damage: plays a role in response to DNA interstrand cross-links (ICLs) by facilitating double-strand break formation. In case of spindle stress, involved in prophase checkpoint. Possesses beta-lactamase activity, catalyzing the hydrolysis of penicillin G and nitrocefin (PubMed:31434986). Exhibits no activity towards other beta-lactam antibiotic classes including cephalosporins (cefotaxime) and carbapenems (imipenem) (PubMed:31434986)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; DCLRE1B promotes tumor progression and predicts immunotherapy response through METTL3-mediated m6A modification in pancreatic cancer. Publication Status: Online-Only, [RefSeq, PubMed]; DCLRE1B/Apollo germline mutations associated with renal cell carcinoma impair telomere protection., [RefSeq, PubMed]; DNA interstrand cross-links prevent strand separation, thereby physically blocking transcription, replication, and segregation of DNA. DCLRE1B is one of several evolutionarily conserved genes involved in repair of interstrand cross-links (Dronkert et al., 2000 [PubMed 10848582]).[supplied by OMIM, Mar 2008]., [RefSeq]; DNA-PK controls Apollo's access to leading-end telomeres., [RefSeq, PubMed]; SNM1B (Apollo) protein exhibits a 5'-to-3' DNA exonuclease activity and functions together with TRF2 to protect telomeres from damage and fusion., [RefSeq, PubMed]; SiRNA knockdown of hSNM1B rendered cells sensitive to ionizing radiation, suggesting the possibility of hSNM1B involvement in homologous recombination repair of double-strand breaks arising as intermediates of ICL repair, [RefSeq, PubMed]; Structural and mechanistic insights into the Artemis endonuclease and strategies for its inhibition., [RefSeq, PubMed]; The C terminus of Snm1B was shown to interact with the TRF homology domain of TRF2 indicating that Snm1B is likely recruited to the telomere via interaction with the double-stranded telomere-binding protein TRF2, [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": 7, "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": "Q9H9E5", "ec_number_list": "3.4.19.12;3.4.13.19;3.5.2.6;3.1.2.2;3.6.4.13;3.1.-.-;3.1.22.-;2.3.2.27;3.1.21.-;3.1.4.1", "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0003684 damaged DNA binding;GO:0044877 protein-containing complex binding;GO:0035312 5'-3' DNA exonuclease activity;GO:0008409 5'-3' exonuclease activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005813 centrosome;GO:0016604 nuclear body;GO:0000781 chromosome, telomeric region", "go_biological_process": "GO:0010833 telomere maintenance via telomere lengthening;GO:0000723 telomere maintenance;GO:0016233 telomere capping;GO:0031848 protection from non-homologous end joining at telomere;GO:0006303 double-strand break repair via nonhomologous end joining", "synthesized_glycan_count": 0, "hit_score": 10.5, "record_id": "Q9H816-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IU60-1", "uniprot_id": "DCP2_HUMAN", "mass": 48423.0, "length": 420, "protein_name": "m7GpppN-mRNA hydrolase", "gene_name": "DCP2", "organism": "Human", "refseq_name": "m7GpppN-mRNA hydrolase isoform 2", "refseq_ac": "NP_001229306", "gene_names_uniprotkb": "DCP2; NUDT20", "gene_names_refseq": "DCP2; NUDT20", "protein_names_uniprotkb": "m7GpppN-mRNA hydrolase; 3.6.1.62; Nucleoside diphosphate-linked moiety X motif 20; Nudix motif 20; hDpc; mRNA-decapping enzyme 2", "protein_names_refseq": "DCP2 decapping enzyme homolog; hDpc; m7GpppN-mRNA hydrolase isoform 2; m7GpppN-mRNA hydrolase; mRNA-decapping enzyme 2; nudix (nucleoside diphosphate linked moiety X)-type motif 20", "tax_id": 9606, "disease": "", "pathway": " (hsa:167227); (R-HSA-380994); (R-HSA-430039); (R-HSA-450385); (R-HSA-450513); (R-HSA-450604)", "pathway_count": 6, "publication_count": 120, "publication_id_list": "10330172;10958673;11237011;11283721;11719186;12198173;12218187;12324455;12417715;12486012;12515382;12639954;12646273;12705825;12748283;12923261;14527413;14688255;14742429;14749774;14976220;15014438;15067023;15085179;15117938;15175153;15231747;15273322;15385533;15475613;15514971;15538381;15687258;15711010;15944294;16051491;16141059;16246173;16262601;16299471;16364914;16364915;16648466;16687408;16699599;16912112;16931790;16989641;17030608;17081983;17133347;17245413;17369404;17525332;18039849;18172165;18285520;18326031;18361920;18367721;18481987;18669648;18684992;18840095;19061636;19141871;19198587;19239894;19279404;19651622;19690332;19729507;19854161;20022965;20068231;20361218;20616046;21070968;21406692;21876179;22802018;22819556;22978410;23186163;23269699;26098573;2663993;2664463;27918561;27920218;28002401;28832583;28834231;29242379;29393594;29413899;29508533;29632046;30524438;31217245;31844290;31875550;32157095;32357974;32488085;32502341;3260265;32897882;32938616;32983136;33717175;33912179;33968037;33981976;35051231;35580925;36010968;36130271;37191010;37437058", "class_list": "", "function": "An mRNA decapping enzyme demonstrated to contain intrinsic decapping activity, [RefSeq, PubMed]; Decapping enzyme 2 is a novel immune-related biomarker that predicts poor prognosis in glioma., [RefSeq, PubMed]; Decapping metalloenzyme that catalyzes the cleavage of the cap structure on mRNAs (PubMed:12218187, PubMed:12417715, PubMed:12923261, PubMed:21070968, PubMed:28002401, PubMed:31875550). Removes the 7-methyl guanine cap structure from mRNA molecules, yielding a 5'-phosphorylated mRNA fragment and 7m-GDP (PubMed:12486012, PubMed:12923261, PubMed:21070968, PubMed:28002401, PubMed:31875550). Necessary for the degradation of mRNAs, both in normal mRNA turnover and in nonsense-mediated mRNA decay (PubMed:14527413). Plays a role in replication-dependent histone mRNA degradation (PubMed:18172165). Has higher activity towards mRNAs that lack a poly(A) tail (PubMed:21070968). Has no activity towards a cap structure lacking an RNA moiety (PubMed:21070968). The presence of a N(6)-methyladenosine methylation at the second transcribed position of mRNAs (N(6),2'-O-dimethyladenosine cap; m6A(m)) provides resistance to DCP2-mediated decapping (PubMed:28002401). Blocks autophagy in nutrient-rich conditions by repressing the expression of ATG-related genes through degradation of their transcripts (PubMed:26098573)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Human Dcp2 is a catalytically active mRNA decapping enzyme that localizes to the cytoplasm, [RefSeq, PubMed]; Intrinsically disordered regions of tristetraprolin and DCP2 directly interact to mediate decay of ARE-mRNA., [RefSeq, PubMed]; LSm1-7 proteins colocalize with DCP1,DCP2 and Xrn1 in cytoplasmic foci, [RefSeq, PubMed]; MOV10 recruits DCP2 to decap human LINE-1 RNA by forming large cytoplasmic granules with phase separation properties., [RefSeq, PubMed]; The protein encoded by this gene is a key component of an mRNA-decapping complex required for degradation of mRNAs, both in normal mRNA turnover, and in nonsense-mediated mRNA decay (NMD). It removes the 7-methyl guanine cap structure from mRNA, prior to its degradation from the 5' end. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jun 2011]., [RefSeq]; These data suggest that a human decapping complex containing decapping enzymes hDcp1a and hDcp2 may be recruited to mRNAs containing premature termination codons by the hUpf proteins., [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": 4, "reported_glycation": 0, "reported_snv": 9, "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": "C9J778;Q6P2D4;Q7Z5W5;Q8NBG5", "ec_number_list": "3.1.13.4;3.6.1.59;3.6.1.52;3.6.1.62;3.6.1.10;3.6.1.61;3.6.4.13;3.1.13.-;3.6.1.64;3.1.26.-", "go_molecular_function": "GO:0030145 manganese ion binding;GO:0004534 5'-3' RNA exonuclease activity;GO:0016896 RNA exonuclease activity, producing 5'-phosphomonoesters;GO:0070034 telomerase RNA binding;GO:0140933 5'-(N(7)-methylguanosine 5'-triphospho)-[mRNA] hydrolase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000932 P-body;GO:0036464 cytoplasmic ribonucleoprotein granule", "go_biological_process": "GO:0000290 deadenylation-dependent decapping of nuclear-transcribed mRNA;GO:0043488 regulation of mRNA stability;GO:0032211 negative regulation of telomere maintenance via telomerase;GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;GO:0006402 mRNA catabolic process", "synthesized_glycan_count": 0, "hit_score": 12.1, "record_id": "Q8IU60-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95881-1", "uniprot_id": "TXD12_HUMAN", "mass": 19206.0, "length": 172, "protein_name": "Thioredoxin domain-containing protein 12", "gene_name": "TXNDC12", "organism": "Human", "refseq_name": "thioredoxin domain-containing protein 12 precursor", "refseq_ac": "NP_056997", "gene_names_uniprotkb": "TXNDC12; PRO1376; TLP19", "gene_names_refseq": "AG1; AGR1; ERP16; ERP18; ERP19; PDIA16; TLP19; TXNDC12; hAG-1; hTLP19", "protein_names_uniprotkb": "Thioredoxin domain-containing protein 12; 1.8.4.2; ER protein 18; ER protein 19; ERp18; ERp19; Endoplasmic reticulum resident protein 18; Endoplasmic reticulum resident protein 19; Thioredoxin-like protein p19; hTLP19", "protein_names_refseq": "ER protein 18; ER protein 19; anterior gradient homolog 1; endoplasmic reticulum protein ERp19; endoplasmic reticulum resident protein 18; endoplasmic reticulum resident protein 19; endoplasmic reticulum thioredoxin superfamily member, 18 kDa; protein disulfide isomerase family A, member 16; thioredoxin domain containing 12 (endoplasmic reticulum); thioredoxin domain-containing protein 12 precursor; thioredoxin domain-containing protein 12; thioredoxin-like protein p19", "tax_id": 9606, "disease": "", "pathway": " (hsa:51060)", "pathway_count": 1, "publication_count": 47, "publication_id_list": "11237011;12761212;12975309;14557066;15340161;16303743;18628206;19361226;21740066;24714562;25645385;26992070;27862975;28218747;28832583;29237092;29242379;29351928;29493099;29557506;29632711;30410026;30429286;31368601;31492838;31530632;31570854;31844290;32157095;32350084;32502341;32938616;32983136;33592498;34171305;34211107;34357683;34629960;35051231;35251023;35254053;35580925;36010968;36241641;36284347;38665916;40596516", "class_list": "", "function": "Clinical Value of TXNDC12 Combined With IDH and 1p19q as Biomarkers for Prognosis of Glioma. Publication Status: Online-Only, [RefSeq, PubMed]; Data demonstrate that ERp18 monitors ATF6a endoplasmic reticulum quality control to ensure optimal processing following trafficking to the Golgi., [RefSeq, PubMed]; ERp16 mediates disulfide bond formation in the ER and plays an important role in cellular defense against prolonged ER stress, [RefSeq, PubMed]; Protein-disulfide reductase of the endoplasmic reticulum that promotes disulfide bond formation in client proteins through its thiol-disulfide oxidase activity., [UniProtKB, PubMed]; Putative physiological role for endoplasmic reticulum thioredoxin superfamily member p18(ERp18) in native disulfide bond formation is discussed, [RefSeq, PubMed]; TXNDC12 promotes EMT and metastasis of hepatocellular carcinoma cells via activation of beta-catenin., [RefSeq, PubMed]; The solution structure of oxidized ERp18 as determined using NMR spectroscopy, [RefSeq, PubMed]; This gene encodes a member of the thioredoxin superfamily. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. This protein localizes to the endoplasmic reticulum and has a single atypical active motif. The encoded protein is mainly involved in catalyzing native disulfide bond formation and displays activity similar to protein-disulfide isomerases. This protein may play a role in defense against endoplasmic reticulum stress. Alternate splicing results in both coding and non-coding variants. [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": 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": 5, "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": "B3KQS0;Q5T1T4;Q96H50", "ec_number_list": "1.8.4.2", "go_molecular_function": "GO:0019153 protein-disulfide reductase (glutathione) activity;GO:0015035 protein-disulfide reductase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen", "go_biological_process": "GO:1902236 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "O95881-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H2A7-1", "uniprot_id": "CXL16_HUMAN", "mass": 27579.0, "length": 254, "protein_name": "C-X-C motif chemokine 16", "gene_name": "CXCL16", "organism": "Human", "refseq_name": "C-X-C motif chemokine 16 isoform 1 precursor", "refseq_ac": "NP_001094282", "gene_names_uniprotkb": "CXCL16; PRO6714; SCYB16; SRPSOX", "gene_names_refseq": "CXCL16; CXCLG16; SR-PSOX; SRPSOX", "protein_names_uniprotkb": "C-X-C motif chemokine 16; SR-PSOX; Scavenger receptor for phosphatidylserine and oxidized low density lipoprotein; Small-inducible cytokine B16; Transmembrane chemokine CXCL16", "protein_names_refseq": "C-X-C motif chemokine 16 isoform 1 precursor; C-X-C motif chemokine 16; CXC chemokine ligand 16; chemokine (C-X-C motif) ligand 16; scavenger receptor for phosphatidylserine and oxidized low density lipoprotein; small-inducible cytokine B16; transmembrane chemokine CXCL16", "tax_id": 9606, "disease": "COVID-19 (Disease Ontology:DOID:0080600); systemic scleroderma (Disease Ontology:DOID:418)", "pathway": " (hsa:58191); (R-HSA-380108); (R-HSA-418594)", "pathway_count": 3, "publication_count": 76, "publication_id_list": "10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10229797;10640743;10706668;10725696;10725697;10781587;11007482;11017100;11060282;11237011;11290797;12120503;12149255;12554737;12884299;12902461;12975309;15067078;15951850;16107333;16634148;16923326;1744577;1840701;18434541;18577758;1891716;20002784;2078213;2217207;2423119;2534964;25813380;2748346;2834384;29557506;2970963;30459171;3098319;31154438;31844290;3260265;33123756;33592498;35051231;36284347;37074911;37086937;37848726;38044363;38146125;38889512;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": "Acts as a scavenger receptor on macrophages, which specifically binds to OxLDL (oxidized low density lipoprotein), suggesting that it may be involved in pathophysiology such as atherogenesis (By similarity). Induces a strong chemotactic response. Induces calcium mobilization. Binds to CXCR6/Bonzo., [UniProtKB]; CXCL5 and CXCL14, but not CXCL16 as potential biomarkers of colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of CXCL16 as a diagnostic biomarker for obesity and intervertebral disc degeneration based on machine learning. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-625-5p is a potential therapeutic target in sepsis by regulating CXCL16/CXCR6 axis and endothelial barrier., [RefSeq, PubMed]; SR-PSOX/CXCL16 may play an important role in facilitating uptake of various pathogens and chemotaxis of T and NKT cells by antigen presenting cells through its chemokine domain., [RefSeq, PubMed]; Serum CXCL16: A new predictor of liver inflammation in patients with chronic hepatitis B., [RefSeq, PubMed]; Upregulation of IL-33, CCL2, and CXCL16 levels in Brazilian pregnant women infected by Toxoplasma gondii., [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": 13, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 13, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 13, "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": 6, "disease_count": 2, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "A0N0N4;A8K7U9;B2RCB0;Q8TC80;Q96K63;Q9BXD6;Q9H2F6", "ec_number_list": "", "go_molecular_function": "GO:0005044 scavenger receptor activity;GO:0005041 low-density lipoprotein particle receptor activity;GO:0008009 chemokine activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006935 chemotaxis;GO:0030307 positive regulation of cell growth;GO:0030335 positive regulation of cell migration;GO:0034612 response to tumor necrosis factor;GO:0034097 response to cytokine", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "Q9H2A7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86T65-3", "uniprot_id": "DAAM2_HUMAN", "mass": 123499.0, "length": 1068, "protein_name": "Disheveled-associated activator of morphogenesis 2", "gene_name": "DAAM2", "organism": "Human", "refseq_name": "disheveled-associated activator of morphogenesis 2 isoform 1", "refseq_ac": "NP_001188356", "gene_names_uniprotkb": "DAAM2; KIAA0381", "gene_names_refseq": "DAAM2; NPHS24; dJ90A20A.1", "protein_names_uniprotkb": "Disheveled-associated activator of morphogenesis 2", "protein_names_refseq": "disheveled-associated activator of morphogenesis 2 isoform 1; disheveled-associated activator of morphogenesis 2", "tax_id": 9606, "disease": "nephrotic syndrome type 24 (Disease Ontology:DOID:0061194)", "pathway": " (hsa:23500)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "23481700;24275569;24715725;25576301;25645385;26154972;27600516;28832583;29242379;29393594;29508533;29557506;30315122;31154438;31848261;32157095;32350084;32488085;32502341;32938616;33232676;33592498;33692394;33717175;33974241;34185709;34932366;35051231;35580925;35933758;36010968;36215666;36284347;36790676;37217939;37938771", "class_list": "", "function": "DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation., [RefSeq, PubMed]; DAAM2 is elevated in the circulation and placenta in pregnancies complicated by fetal growth restriction and is regulated by hypoxia. Publication Status: Online-Only, [RefSeq, PubMed]; Disheveled-associated activator of morphogenesis 2 promotes invasion of colorectal cancer by activating PAK1 and promoting MMP7 expression., [RefSeq, PubMed]; Key regulator of the Wnt signaling pathway, which is required for various processes during development, such as dorsal patterning, determination of left/right symmetry or myelination in the central nervous system. Acts downstream of Wnt ligands and upstream of beta-catenin (CTNNB1). Required for canonical Wnt signaling pathway during patterning in the dorsal spinal cord by promoting the aggregation of Disheveled (Dvl) complexes, thereby clustering and formation of Wnt receptor signalosomes and potentiating Wnt activity. During dorsal patterning of the spinal cord, inhibits oligodendrocytes differentiation via interaction with PIP5K1A. Also regulates non-canonical Wnt signaling pathway. Acts downstream of PITX2 in the developing gut and is required for left/right asymmetry within dorsal mesentery: affects mesenchymal condensation by lengthening cadherin-based junctions through WNT5A and non-canonical Wnt signaling, inducing polarized condensation in the left dorsal mesentery necessary to initiate gut rotation. Together with DAAM1, required for myocardial maturation and sarcomere assembly. Is a regulator of actin nucleation and elongation, filopodia formation and podocyte migration (PubMed:33232676)., [UniProtKB, PubMed, UniProtKB]; Placental DAAM2 is unaltered in preeclampsia, but upregulated by treatment with proton pump inhibitors., [RefSeq, PubMed]; The prognostic value of DAAM2 in lower grade glioma, liver cancer, and 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": 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": 36, "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": "G5EA45;Q5T4T8;Q5T4U0;Q9NQI5;Q9Y4G0", "ec_number_list": "", "go_molecular_function": "GO:0003779 actin binding;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0070062 extracellular exosome", "go_biological_process": "GO:0021516 dorsal spinal cord development;GO:0030335 positive regulation of cell migration;GO:0032956 regulation of actin cytoskeleton organization;GO:0030036 actin cytoskeleton organization;GO:0016055 Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q86T65-3", "record_type": "protein" }, { "uniprot_canonical_ac": "P24043-1", "uniprot_id": "LAMA2_HUMAN", "mass": 343905.0, "length": 3122, "protein_name": "Laminin subunit alpha-2", "gene_name": "LAMA2", "organism": "Human", "refseq_name": "laminin subunit alpha-2 isoform b precursor", "refseq_ac": "NP_001073291", "gene_names_uniprotkb": "LAMA2; LAMM", "gene_names_refseq": "LAMA2; LAMM; MDC1A", "protein_names_uniprotkb": "Laminin subunit alpha-2; Laminin M chain; Laminin-12 subunit alpha; Laminin-2 subunit alpha; Laminin-4 subunit alpha; Merosin heavy chain", "protein_names_refseq": "laminin M chain; laminin subunit alpha-2 isoform b precursor; laminin, alpha 2; laminin-12 subunit alpha; laminin-2 subunit alpha; laminin-4 subunit alpha; merosin heavy chain; mutant laminin subunit alpha 2", "tax_id": 9606, "disease": "autosomal recessive limb-girdle muscular dystrophy type 23 (Disease Ontology:DOID:0061132); congenital merosin-deficient muscular dystrophy 1A (Disease Ontology:DOID:0110636); myopia (Disease Ontology:DOID:11830); renovascular hypertension (Disease Ontology:DOID:1591); muscular dystrophy (Disease Ontology:DOID:9884)", "pathway": " (hsa:3908); (R-HSA-3000157); (R-HSA-3000171); (R-HSA-3000178); (R-HSA-8874081); (R-HSA-9619665); (R-HSA-9638630); (R-HSA-9913351); (R-HSA-9925563)", "pathway_count": 9, "publication_count": 251, "publication_id_list": "10.1101/2023.09.13.557529;10022829;10189375;10203854;10220111;10339611;10400691;10441321;10521801;10545507;10673326;10727776;10757804;10856243;10893187;10932245;10942431;11054877;11084047;11115854;11133365;11157804;11237011;11259413;11352924;11356866;11394999;11430795;11430802;11495720;11591858;11734543;11739641;11782409;11847221;11964076;12056842;12145339;12189167;12198163;12225811;12237301;12552556;12782656;12799134;1319059;1376317;14512514;14522948;14574404;14664827;14715956;15075323;15150276;15175026;15189448;15296743;15356632;1544908;15610069;15695336;15836632;15907797;16136673;16212419;16293224;16311519;16319321;16335952;16373334;16413178;16493581;16524571;16581764;16782899;16806867;16923174;16959974;1704008;17325040;17574028;17588949;17699610;17905726;17959798;18634568;18764929;18803322;19143832;19156870;19159218;19321787;19346169;19664995;19745155;1975954;19922439;19946898;20044576;20149798;20213556;20301468;2059554;20625412;20802513;20832498;2099832;21044070;21326363;21411665;21423190;21423191;21613327;21642437;21653862;21789315;2185464;21953594;22053691;22134916;22159078;22180461;22223806;22333914;22492709;22493504;22675738;22764250;22814607;23090970;23481700;2364322;23695165;23747866;23874858;2412224;24191038;2420006;24227709;2430969;24480479;24611677;24646194;24675079;24715725;24957499;25892735;25962468;25974668;26423937;26441514;27220739;27234031;27288457;27859941;27862975;28657654;28852375;29242379;29391424;29557506;29741879;29748249;29769354;30001391;30459171;30779550;31154438;31530632;31844290;32157095;32387766;32488085;32502341;32792503;3282674;32904964;32910545;32936536;33392160;33968037;33981976;34087483;34509645;35051231;35580925;36241641;37074911;37318662;38747280;39177608;3997977;6193777;6439184;7499434;7509446;7527058;7527495;7535762;7542669;7547961;7550355;7559467;7592992;7685013;7693733;7844150;7852349;7925941;7935840;8002934;8043271;8054685;8138712;8268918;8294519;8349731;8440685;8576247;8607994;8619637;8627307;8647822;8662541;8798547;8798654;8842374;8845841;8910357;8943283;9214383;9245798;9252349;9294172;9341124;9346959;9405466;9412493;9417118;9418958;9482253;9645947;9652404;9659899;9659900;9685393;9705348;9748295;9858769;9864373;9949188", "class_list": "", "function": "An atypical expression of core alpha-Dystroglycan and Laminin-alpha2 in skin fibroblasts of patients with congenital muscular dystrophies., [RefSeq, PubMed]; Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Cardiac Involvement in LAMA2-Related Muscular Dystrophy and SELENON-Related Congenital Myopathy: A Case Series., [RefSeq, PubMed]; Genetic profile of Brazilian patients with LAMA2-related dystrophies., [RefSeq, PubMed]; Laminin, an extracellular protein, is a major component of the basement membrane. It is thought to mediate the attachment, migration, and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. It is composed of three subunits, alpha, beta, and gamma, which are bound to each other by disulfide bonds into a cross-shaped molecule. This gene encodes the alpha 2 chain, which constitutes one of the subunits of laminin 2 (merosin) and laminin 4 (s-merosin). Mutations in this gene have been identified as the cause of congenital merosin-deficient muscular dystrophy. Two transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 23, "reported_o_glycosites": 2, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 22, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 23, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 23, "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": 199, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 114, "disease_count": 5, "glyco_site_count": 34, "binding_glycan_count": 0, "secondary_ac_list": "Q14736;Q5VUM2;Q93022", "ec_number_list": "", "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005198 structural molecule activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0031012 extracellular matrix;GO:0031594 neuromuscular junction;GO:0045202 synapse", "go_biological_process": "GO:0007155 cell adhesion;GO:0007165 signal transduction;GO:0007399 nervous system development;GO:0045785 positive regulation of cell adhesion;GO:0007517 muscle organ development", "synthesized_glycan_count": 0, "hit_score": 39.3, "record_id": "P24043-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5QP82-1", "uniprot_id": "DCA10_HUMAN", "mass": 60582.0, "length": 559, "protein_name": "DDB1- and CUL4-associated factor 10", "gene_name": "DCAF10", "organism": "Human", "refseq_name": "DDB1- and CUL4-associated factor 10 isoform b", "refseq_ac": "NP_001273739", "gene_names_uniprotkb": "DCAF10; WDR32", "gene_names_refseq": "DCAF10; WDR32", "protein_names_uniprotkb": "DDB1- and CUL4-associated factor 10; WD repeat-containing protein 32", "protein_names_refseq": "DDB1- and CUL4-associated factor 10 isoform b; WD repeat domain 32; WD repeat-containing protein 32", "tax_id": 9606, "disease": "", "pathway": " (hsa:79269); (R-HSA-8951664)", "pathway_count": 2, "publication_count": 161, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11069780;11237011;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;16547496;16647857;16707496;16790436;16943200;16949367;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18767875;18775313;18776931;18805092;18826954;18851830;18926707;19250909;19321346;19413330;19617556;19748355;20068231;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;22959436;23186163;23201271;23333871;23401859;23453757;23481700;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24129315;24275569;24366543;24636985;24714562;24715725;24793695;24793696;25314029;25349211;25355947;25418920;25531226;25645385;26344709;26375851;26460955;26632597;26728094;26906416;26992070;27030794;27222660;27565346;27846572;27920218;28115426;28446606;28832583;28834231;28904123;29153394;29242379;29393594;29508533;29557506;29632046;29632711;29786170;30410026;30610225;30620550;30779550;30833945;31530632;31844290;31848261;32005965;32157095;32284348;32357974;32387766;32502341;32897882;32938616;32983136;33444648;33717175;33912179;33968037;33981976;34357683;34561969;35051231;35580925;36010968;37340703;37962355;40307207;9790970;9887101;9891082", "class_list": "", "function": "Adenovirus E1A binding to DCAF10 targets proteasomal degradation of RUVBL1/2 AAA+ ATPases required for quaternary assembly of multiprotein machines, innate immunity, and responses to metabolic stress., [RefSeq, PubMed]; May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex., [UniProtKB, PubMed, 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": 9, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 9, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 9, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "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": 10, "binding_glycan_count": 0, "secondary_ac_list": "A4VCJ5;Q32NE2;Q8N2Q5;Q96ET5;Q9BTQ5;Q9H5P6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0080008 Cul4-RING E3 ubiquitin ligase complex", "go_biological_process": "GO:0016567 protein ubiquitination;GO:0042981 regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 17.2, "record_id": "Q5QP82-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NRR1-1", "uniprot_id": "CYTL1_HUMAN", "mass": 15577.0, "length": 136, "protein_name": "Cytokine-like protein 1", "gene_name": "CYTL1", "organism": "Human", "refseq_name": "cytokine-like protein 1 precursor", "refseq_ac": "NP_061129", "gene_names_uniprotkb": "CYTL1; C4orf4; PRO4425", "gene_names_refseq": "C17; C4orf4; CYTL1", "protein_names_uniprotkb": "Cytokine-like protein 1; Protein C17", "protein_names_refseq": "cytokine-like protein 1 precursor; cytokine-like protein 1; cytokine-like protein C17", "tax_id": 9606, "disease": "", "pathway": " (hsa:54360)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "10857752;11237011;12975309;15340161;21322034;21503106;32157095;32736681;33690800;35115484;36825034", "class_list": "", "function": "C17 is a cytokine-like protein specifically expressed in bone marrow and cord blood mononuclear cells that bear the CD34 (MIM 142230) surface marker (Liu et al., 2000 [PubMed 10857752]).[supplied by OMIM, Mar 2008]., [RefSeq]; C17orf62-L could induce cell death accompanied with rising of cleaved PARP., [RefSeq, PubMed]; Cytokine-Like Protein 1 (CYTL1) as a Key Target of M-Stage Immune Infiltration in Stomach Adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Cytokine-like protein 1-induced survival of monocytes suggests a combined strategy targeting MCL1 and MAPK in CMML., [RefSeq, PubMed]; Intracellular CYTL1, a novel tumor suppressor, stabilizes NDUFV1 to inhibit metabolic reprogramming in breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The involvement of cytokine-like 1 (Cytl1) in chondrogenesis and cartilage metabolism., [RefSeq, PubMed]; We report a structural-functional characterization of cytokine-like protein 1 (Cytl1) by a combination of different computational structure-based techniques., [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": "", "ec_number_list": "", "go_molecular_function": "GO:0005102 signaling receptor binding", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0007165 signal transduction;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9NRR1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q1ED39-1", "uniprot_id": "KNOP1_HUMAN", "mass": 51589.0, "length": 458, "protein_name": "Lysine-rich nucleolar protein 1", "gene_name": "KNOP1", "organism": "Human", "refseq_name": "lysine-rich nucleolar protein 1 isoform b", "refseq_ac": "NP_001013009", "gene_names_uniprotkb": "KNOP1; C16orf88; FAM191A; TSG118", "gene_names_refseq": "101F10.1; C16orf88; FAM191A; KNOP1; TSG118", "protein_names_uniprotkb": "Lysine-rich nucleolar protein 1; Protein FAM191A; Testis-specific gene 118 protein", "protein_names_refseq": "family with sequence similarity 191, member A; lysine-rich nucleolar protein 1 isoform b; protein C16orf88; testis-specific gene 118 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:400506)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "11237011;17081983;17693683;18669648;19651622;19664995;19691289;20068231;21406692;22645359;23186163;23301498;24129315;24275569;24715725;25114211;25218447;25576301;25772364;26154972;26992070;27846572;27920218;28832583;28834231;28904123;29242379;29508533;29786170;31217245;31844290;32157095;32502341;32938616;32983136;33141586;33298915;33633747;33936100;34087483;36010968;37217939", "class_list": "", "function": "The protein encoded by this gene is a nucleolar protein that interacts with zinc finger 106 protein. The encoded protein has several of the same characteristics as nucleostemin and may be involved in testis development. [provided by RefSeq, Feb 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": 15, "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": "O43328;Q5FWF3", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005730 nucleolus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q1ED39-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y2R4-1", "uniprot_id": "DDX52_HUMAN", "mass": 67466.0, "length": 599, "protein_name": "Probable ATP-dependent RNA helicase DDX52", "gene_name": "DDX52", "organism": "Human", "refseq_name": "probable ATP-dependent RNA helicase DDX52 isoform 2", "refseq_ac": "NP_001278405", "gene_names_uniprotkb": "DDX52; HUSSY-19; ROK1", "gene_names_refseq": "DDX52; HUSSY19; ROK1", "protein_names_uniprotkb": "Probable ATP-dependent RNA helicase DDX52; 3.6.4.13; ATP-dependent RNA helicase ROK1-like; DEAD box protein 52", "protein_names_refseq": "DEAD (Asp-Glu-Ala-Asp) box polypeptide 52; DEAD box protein 52; DEAD-box helicase 52; probable ATP-dependent RNA helicase DDX52 isoform 2; probable ATP-dependent RNA helicase DDX52", "tax_id": 9606, "disease": "", "pathway": " (hsa:11056); (R-HSA-6790901); (R-HSA-6791226)", "pathway_count": 3, "publication_count": 99, "publication_id_list": "10606270;11081632;11124703;11237011;11922599;11935223;11978965;12068309;12150911;12417735;12429849;15199136;16037817;16043514;16381836;16738141;16782898;17189298;17353269;17412707;17525332;17636026;18065403;18438418;18669648;19033376;19106111;19332556;19463982;19564402;19608861;19801658;20038530;20047967;20056613;20531386;20798176;20805244;20819938;20941364;21036871;21063389;21097556;22072790;22190735;22195017;22916032;23391857;23439679;23481700;23482395;2388630;24086612;24424021;24550520;25411247;25525153;25576301;25645385;25653167;25851604;25969445;26085946;26196125;26237581;27084949;27920218;28063628;28218747;28514659;28832583;28834231;28855257;29242379;29393594;29508533;29632046;29632711;29786170;29789417;30315122;30833945;31530632;31848261;31998317;32357974;32387766;32522876;34019948;34233596;35132862;36215666;36284347;37833424;38665916;40596516;9211966;9482744;9512526", "class_list": "", "function": "DDX52 gene expression in LUAD tissues indicates potential as a prognostic biomarker and therapeutic target. Publication Status: Online-Only, [RefSeq, PubMed]; Knockdown of DEAD-box RNA helicase 52 (DDX52) suppresses the proliferation of melanoma cells in vitro and of nude mouse xenografts by targeting c-Myc., [RefSeq, PubMed]; Required for efficient ribosome biogenesis (By similarity). May control cell cycle progression by regulating translation of mRNAs that contain a terminal oligo pyrimidine (TOP) motif in their 5' UTRs, such as GTPBP4 (By similarity)., [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": 3, "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": "Q86YG1;Q8N213;Q9NVE0;Q9Y482", "ec_number_list": "5.6.2.4;3.6.1.-;3.6.4.-;3.6.4.13;3.6.4.6;3.6.1.5;2.7.7.7;2.7.7.49;3.6.4.10;3.1.3.1;3.9.1.1;4.2.99.18;5.6.1.6;5.6.2.3;2.1.1.-;3.6.4.12;3.4.21.53;5.6.2.5;3.1.-.-;3.6.5.-;7.6.2.1;3.1.13.-;2.3.2.27;7.2.2.-;5.6.2.-;2.3.2.-;2.7.11.1;3.6.1.15;3.1.4.-;3.6.-.-;3.4.24.-;3.1.13.1;5.6.2.6;3.4.-.-;2.7.4.3", "go_molecular_function": "GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0003724 RNA helicase activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0016020 membrane", "go_biological_process": "GO:0030490 maturation of SSU-rRNA", "synthesized_glycan_count": 0, "hit_score": 10.2, "record_id": "Q9Y2R4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96LJ7-1", "uniprot_id": "DHRS1_HUMAN", "mass": 33909.0, "length": 313, "protein_name": "Dehydrogenase/reductase SDR family member 1", "gene_name": "DHRS1", "organism": "Human", "refseq_name": "dehydrogenase/reductase SDR family member 1", "refseq_ac": "NP_001129522", "gene_names_uniprotkb": "DHRS1; SDR19C1", "gene_names_refseq": "DHRS1; SDR19C1", "protein_names_uniprotkb": "Dehydrogenase/reductase SDR family member 1; 1.1.1.-; Protein SDR19C1; Short chain dehydrogenase/reductase family 19C member 1", "protein_names_refseq": "dehydrogenase/reductase (SDR family) member 1; dehydrogenase/reductase SDR family member 1; short chain dehydrogenase/reductase family 19C member 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:115817)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "11237011;12153138;19027726;20068231;20877624;23481700;24715725;25052469;25418920;25645385;26992070;28228285;28832583;28904123;29242379;29493099;29557506;29632711;29786170;29789417;30031147;30315122;30429286;31092671;31154438;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32938616;32983136;33141586;33912179;33968037;33981976;34087483;34171305;34357683;34498498;34509645;35051231;35580925;36010968;36241641;37861541;37938771", "class_list": "", "function": "Construction and validation of a immune-related prognostic gene DHRS1 in hepatocellular carcinoma based on bioinformatic analysis., [RefSeq, PubMed]; DHRS1 was proven to be an NADPH-dependent reductase that is able to catalyse the in vitro reductive conversion of some steroids (estrone, androstene-3,17-dione and cortisone), as well as other endogenous substances and xenobiotics., [RefSeq, PubMed]; Data suggest that members of short chain dehydrogenase/reductase superfamily (human DHRS1; E coli galE) exhibit conserved residues and tertiary structure in active site domain that are essential for biocatalysis., [RefSeq, PubMed]; Decreased DHRS1 expression is a novel predictor of poor survival in patients with hepatocellular carcinoma., [RefSeq, PubMed]; NADPH-dependent oxidoreductase which catalyzes the reduction of steroids (estrone, androstene-3,17-dione and cortisone) as well as prostaglandin E1, isatin and xenobiotics in vitro (PubMed:30031147). May have a role in steroid and/or xenobiotic metabolism (PubMed:30031147)., [UniProtKB, PubMed]; Novel human SDR-type dehydrogenase/reductase gene named Dehydrogenase/reductase (SDR family) member 1 (DHRS1), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family. The encoded enzyme contains a conserved catalytic domain and likely functions as an oxidoreductase. Multiple alternatively spliced variants, encoding the same protein, have been identified. [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": 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": "D3DS71;Q8NDG3;Q96B59;Q96CQ5", "ec_number_list": "1.1.1.300;1.1.1.-;1.1.1.64;1.1.1.54;1.1.1.216;1.1.1.62;1.1.1.51;1.1.1.225;1.1.1.357;1.1.1.209;1.1.1.210;1.1.1.53;1.1.1.188;1.1.1.239;1.1.1.112;1.3.1.20;1.1.1.270;1.1.1.149;1.1.1.184", "go_molecular_function": "GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;GO:0047045 testosterone dehydrogenase (NADP+) activity;GO:0004090 carbonyl reductase (NADPH) activity;GO:0047881 estradiol 17-alpha-dehydrogenase [NAD(P)+] activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q96LJ7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q30KP9-1", "uniprot_id": "DB135_HUMAN", "mass": 8754.0, "length": 77, "protein_name": "Beta-defensin 135", "gene_name": "DEFB135", "organism": "Human", "refseq_name": "beta-defensin 135 precursor", "refseq_ac": "NP_001028189", "gene_names_uniprotkb": "DEFB135", "gene_names_refseq": "DEFB135", "protein_names_uniprotkb": "Beta-defensin 135; Defensin, beta 135", "protein_names_refseq": "beta-defensin 135 precursor; beta-defensin 135", "tax_id": 9606, "disease": "", "pathway": " (hsa:613209); (R-HSA-1461957); (R-HSA-1461973)", "pathway_count": 3, "publication_count": 13, "publication_id_list": "10521347;10914484;11085990;11702237;11934878;12949495;16033865;18006661;20214904;20385753;20483750;21122132;9541493", "class_list": "", "function": "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 8p23. [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": 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": "Q4QY37", "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": 1.4, "record_id": "Q30KP9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q4QY38-1", "uniprot_id": "DB134_HUMAN", "mass": 7552.0, "length": 66, "protein_name": "Beta-defensin 134", "gene_name": "DEFB134", "organism": "Human", "refseq_name": "beta-defensin 134 precursor", "refseq_ac": "NP_001289624", "gene_names_uniprotkb": "DEFB134", "gene_names_refseq": "DEFB134", "protein_names_uniprotkb": "Beta-defensin 134; Defensin, beta 134", "protein_names_refseq": "beta-defensin 134 precursor; beta-defensin 134; beta-defensin 135", "tax_id": 9606, "disease": "", "pathway": " (hsa:613211); (R-HSA-1461957); (R-HSA-1461973)", "pathway_count": 3, "publication_count": 15, "publication_id_list": "10521347;10914484;11085990;11702237;11934878;12949495;16033865;18006661;20214904;20385753;20483750;21122132;24715725;29557506;9541493", "class_list": "", "function": "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 8p23. [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": 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": "A1L4A4", "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": "Q4QY38-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VU92-1", "uniprot_id": "DC121_HUMAN", "mass": 51201.0, "length": 463, "protein_name": "DDB1- and CUL4-associated factor 12-like protein 1", "gene_name": "DCAF12L1", "organism": "Human", "refseq_name": "DDB1- and CUL4-associated factor 12-like protein 1", "refseq_ac": "NP_848565", "gene_names_uniprotkb": "DCAF12L1; WDR40B", "gene_names_refseq": "DCAF12L1; KIAA1892L; WDR40B", "protein_names_uniprotkb": "DDB1- and CUL4-associated factor 12-like protein 1; WD repeat-containing protein 40B", "protein_names_refseq": "DDB1- and CUL4-associated factor 12-like protein 1; WD repeat domain 40B; WD repeat-containing protein 40B", "tax_id": 9606, "disease": "", "pathway": " (hsa:139170)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "16949367;18452278;30429286;32387766", "class_list": "", "function": "Functionally characterizes other DDB1- and CUL4-associated factors, including the DCAF12 factor which most closely resembles the product of this gene., [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. [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": 26, "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": "Q8IYK3", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0080008 Cul4-RING E3 ubiquitin ligase complex", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q5VU92-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VW00-1", "uniprot_id": "DC122_HUMAN", "mass": 50803.0, "length": 463, "protein_name": "DDB1- and CUL4-associated factor 12-like protein 2", "gene_name": "DCAF12L2", "organism": "Human", "refseq_name": "DDB1- and CUL4-associated factor 12-like protein 2", "refseq_ac": "NP_001013650", "gene_names_uniprotkb": "DCAF12L2; WDR40C", "gene_names_refseq": "DCAF12L2; WDR40C", "protein_names_uniprotkb": "DDB1- and CUL4-associated factor 12-like protein 2; WD repeat-containing protein 40C", "protein_names_refseq": "DDB1- and CUL4-associated factor 12-like protein 2; WD repeat-containing protein 40C", "tax_id": 9606, "disease": "", "pathway": " (hsa:340578)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "16949367;28218747;28904123;30315122;30429286", "class_list": "", "function": "Functionally characterizes other DDB1- and CUL4-associated factors, including the DCAF12 factor which most closely resembles the product of this gene., [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 multi-protein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene appears to represent an intronless retrocopy of a related multi-exon gene located on chromosome 9. However, the CDS of this intronless gene remains intact, it is conserved in other mammalian species, it is known to be transcribed, and it is therefore thought to encode a functional protein. [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": 32, "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": "B2RN42", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0080008 Cul4-RING E3 ubiquitin ligase complex", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q5VW00-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZN68-1", "uniprot_id": "D19P2_HUMAN", "mass": 43060.0, "length": 376, "protein_name": "Putative C-mannosyltransferase DPY19L2P2", "gene_name": "DPY19L2P2", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "DPY19L2P2", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative C-mannosyltransferase DPY19L2P2; 2.4.1.-; Dpy-19-like protein 2 pseudogene 2; Protein dpy-19 homolog 2-like 2", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "16526957", "class_list": "glycogene;glycosyltransferase", "function": "Probable C-mannosyltransferase that mediates C-mannosylation of tryptophan residues on target proteins., [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": 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": "Q8N9V4;Q8ND62", "ec_number_list": "", "go_molecular_function": "GO:0000030 mannosyltransferase activity", "go_cellular_component": "GO:0005637 nuclear inner membrane", "go_biological_process": "GO:0007286 spermatid development", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q6ZN68-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZNG2-1", "uniprot_id": "DBX2_HUMAN", "mass": 36555.0, "length": 339, "protein_name": "Homeobox protein DBX2", "gene_name": "DBX2", "organism": "Human", "refseq_name": "homeobox protein DBX2", "refseq_ac": "NP_001004329", "gene_names_uniprotkb": "DBX2", "gene_names_refseq": "DBX2", "protein_names_uniprotkb": "Homeobox protein DBX2; Developing brain homeobox protein 2", "protein_names_refseq": "developing brain homeobox protein 2; homeobox protein DBX2", "tax_id": 9606, "disease": "", "pathway": " (hsa:440097)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "29557506;30833799;35051231", "class_list": "", "function": "DBX2 is obviously upregulated in hepatocellular carcinoma (HCC) tissues and strongly correlated with tumor size. Subsequently, both gain and loss of function assays indicated that DBX2 promoted HCC migration, invasion, and proliferation by facilitating the transition from G1 to S phase and attenuating apoptosis in vitro and 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 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": "", "ec_number_list": "", "go_molecular_function": "GO:0003677 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", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q6ZNG2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z5P4-1", "uniprot_id": "DHB13_HUMAN", "mass": 33655.0, "length": 300, "protein_name": "17-beta-hydroxysteroid dehydrogenase 13", "gene_name": "HSD17B13", "organism": "Human", "refseq_name": "17-beta-hydroxysteroid dehydrogenase 13 isoform B", "refseq_ac": "NP_001129702", "gene_names_uniprotkb": "HSD17B13; HMFN0376; PRO1014; SCDR9; SDR16C3", "gene_names_refseq": "FLDP; HMFN0376; HSD17B13; NIIL497; SCDR9; SDR16C3", "protein_names_uniprotkb": "17-beta-hydroxysteroid dehydrogenase 13; 1.1.1.-; 1.1.1.105; 1.1.1.62; 17-beta-HSD 13; Hepatic retinol/retinal dehydrogenase; Short chain dehydrogenase/reductase family 16C member 3; Short-chain dehydrogenase/reductase 9", "protein_names_refseq": "17-beta hydroxysteroid dehydrogenase; 17-beta-HSD 13; 17-beta-hydroxysteroid dehydrogenase 13 isoform B; 17-beta-hydroxysteroid dehydrogenase 13; hepatic retinol/retinal dehydrogenase; short chain dehydrogenase/reductase family 16C member 3; short-chain dehydrogenase/reductase 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:345275); (R-HSA-8964572)", "pathway_count": 2, "publication_count": 28, "publication_id_list": "12975309;15221005;17311113;18160536;19843876;20166139;20624928;22106267;24519944;25028495;26322308;26515554;26768311;29351928;29557506;29562163;30415504;31154438;32973038;32983136;34930143;35580925;36323699;36555467;36610497;37470344;37620305;38778456", "class_list": "", "function": "A new human short-chain dehydrogenase/reductase gene SCDR9 is cloned and expressed., [RefSeq, PubMed]; Association of HSD17B13 and PNPLA3 With Liver Enzymes and Fibrosis in Hispanic/Latino Individuals of Diverse Genetic Ancestries., [RefSeq, PubMed]; Does not have retinol/retinal dehydrogenase activity in vitro., [UniProtKB, PubMed]; Has retinol/retinal dehydrogenase activity in vitro., [UniProtKB, PubMed, PubMed]; Integrating genetic and socioeconomic data to predict the progression of nonalcoholic fatty liver disease., [RefSeq, PubMed]; MTARC1 and HSD17B13 Variants Have Protective Effects on Non-Alcoholic Fatty Liver Disease in Patients Undergoing Bariatric Surgery. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a pivotal role in hepatic lipid metabolism (PubMed:29562163). In vitro, it catalyzes the oxidation of a variety of lipid substrates, including 17beta-estradiol, retinol, retinal, and leukotriene B4 (PubMed:29562163, PubMed:30415504, PubMed:32973038)., [UniProtKB, PubMed, PubMed, PubMed]; Structural basis of lipid-droplet localization of 17-beta-hydroxysteroid dehydrogenase 13. Publication Status: Online-Only, [RefSeq, PubMed]; The rs72613567:TA polymorphism in HSD17B13 is associated with survival benefit after 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": 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": 16, "reported_glycation": 0, "reported_snv": 8, "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": "A8K9R9;Q2M1L5;Q86W22;Q86W23", "ec_number_list": "1.1.1.105;1.1.1.62;1.1.1.239;1.1.1.209;1.1.1.53;1.1.1.315;1.2.1.36;1.2.1.19;1.2.1.3;1.2.1.28;1.1.1.51;1.1.1.-;1.1.1.225;1.1.1.357;1.1.1.210;1.7.1.-;1.1.1.1;1.1.1.66;1.1.1.188;1.1.1.64;1.1.1.112;1.3.1.20;1.1.1.270;1.1.1.149;1.1.1.330;1.1.1.n12;1.1.1.35;1.1.1.178;1.1.1.159", "go_molecular_function": "GO:0016229 steroid dehydrogenase activity;GO:0004745 all-trans-retinol dehydrogenase (NAD+) activity;GO:0004303 estradiol 17-beta-dehydrogenase [NAD(P)+] activity;GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;GO:0120013 lipid transfer activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005811 lipid droplet;GO:0005829 cytosol", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0046889 positive regulation of lipid biosynthetic process;GO:0034389 lipid droplet organization", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q7Z5P4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z7B7-1", "uniprot_id": "DB132_HUMAN", "mass": 10610.0, "length": 95, "protein_name": "Beta-defensin 132", "gene_name": "DEFB132", "organism": "Human", "refseq_name": "beta-defensin 132 precursor", "refseq_ac": "NP_997352", "gene_names_uniprotkb": "DEFB132; DEFB32; PRO1754", "gene_names_refseq": "BD-32; DEFB-32; DEFB132; DEFB32; HEL-75; KFLL827; UNQ827", "protein_names_uniprotkb": "Beta-defensin 132; BD-32; Beta-defensin 32; DEFB-32; Defensin HEL-75; Defensin, beta 132", "protein_names_refseq": "RP5-1103G7.6; beta-defensin 132 precursor; beta-defensin 132; beta-defensin 32; defensin HEL-75; defensin, beta 32", "tax_id": 9606, "disease": "", "pathway": " (hsa:400830); (R-HSA-1461957); (R-HSA-1461973)", "pathway_count": 3, "publication_count": 17, "publication_id_list": "10521347;10914484;11085990;11702237;11934878;12620395;12949495;12975309;18006661;18343807;18390568;20214904;20385753;20483750;21122132;23481700;9541493", "class_list": "", "function": "Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The protein encoded by this gene is secreted and is a member of the beta defensin protein family. This protein binds spermatozoa and has antimicrobial activity against E. coli. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq, Nov 2014]., [RefSeq]; HEL-75 is a new beta-defensin expressed in the epididymis and on sperm. The encoded protein displays antimicrobial activity against E. coli., [RefSeq, PubMed]; 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": "B2RP72;Q4QY40", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0061827 sperm head;GO:0005615 extracellular space", "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": 1.8, "record_id": "Q7Z7B7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IX94-1", "uniprot_id": "CTGE4_HUMAN", "mass": 87989.0, "length": 777, "protein_name": "cTAGE family member 4", "gene_name": "CTAGE4", "organism": "Human", "refseq_name": "cTAGE family member 8", "refseq_ac": "NP_001265436", "gene_names_uniprotkb": "CTAGE4", "gene_names_refseq": "CTAGE8", "protein_names_uniprotkb": "cTAGE family member 4; Protein cTAGE-4", "protein_names_refseq": "Cutaneous T-cell lymphoma-associated antigen 8; Protein cTAGE-8; cTAGE family member 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:100128553); (hsa:100142659)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "12839582;25576301;28904123;34087483;34357683;34561969;35051231", "class_list": "", "function": "Tumor-associated antigen., [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": "A8K871;O95046", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane;GO:0070971 endoplasmic reticulum exit site;GO:0016020 membrane", "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": 0.8, "record_id": "Q8IX94-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NA75-1", "uniprot_id": "DC4L2_HUMAN", "mass": 43747.0, "length": 395, "protein_name": "DDB1- and CUL4-associated factor 4-like protein 2", "gene_name": "DCAF4L2", "organism": "Human", "refseq_name": "DDB1- and CUL4-associated factor 4-like protein 2", "refseq_ac": "NP_689631", "gene_names_uniprotkb": "DCAF4L2; WDR21C", "gene_names_refseq": "DCAF4L2; WDR21C", "protein_names_uniprotkb": "DDB1- and CUL4-associated factor 4-like protein 2; WD repeat-containing protein 21C", "protein_names_refseq": "DDB1- and CUL4-associated factor 4-like protein 2; WD repeat domain 21C; WD repeat-containing protein 21C", "tax_id": 9606, "disease": "", "pathway": " (hsa:138009)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "18669648;23512105;26992070;27543614;28832583;29242379;29557506;32357974;33012505;33912179", "class_list": "", "function": "In addition, eight genes classified as 'second tier' hits in the original study (PAX7, THADA, COL8A1/FILIP1L, DCAF4L2, GADD45G, NTN1, RBFOX3 and FOXE1) showed evidence of linkage and association in this replication sample., [RefSeq, PubMed]; LncRNA ST8SIA6-AS1 promotes hepatocellular carcinoma progression by regulating MAGEA3 and DCAF4L2 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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 31, "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:0080008 Cul4-RING E3 ubiquitin ligase complex", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q8NA75-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NCS7-1", "uniprot_id": "CTL5_HUMAN", "mass": 81694.0, "length": 719, "protein_name": "Choline transporter-like protein 5", "gene_name": "SLC44A5", "organism": "Human", "refseq_name": "choline transporter-like protein 5 isoform B", "refseq_ac": "NP_001123530", "gene_names_uniprotkb": "SLC44A5; CTL5", "gene_names_refseq": "CTL5; SLC44A5", "protein_names_uniprotkb": "Choline transporter-like protein 5; Solute carrier family 44 member 5", "protein_names_refseq": "choline transporter-like protein 5 isoform B; choline transporter-like protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:204962); (R-HSA-1483191); (R-HSA-9958517)", "pathway_count": 3, "publication_count": 47, "publication_id_list": "10.1101/2023.09.13.557529;10100195;10191259;10677542;10893425;11068039;11420179;11698453;12055623;12216837;12221122;14973250;15175005;15715662;15911624;17007874;17158099;17491011;17561512;18694939;19915674;20338778;21926997;23328280;23651124;23901139;24732803;24828044;26005868;26048993;26945070;26992070;27082540;28228285;28514659;28821867;28834231;29557506;3057511;33141586;33968037;34171305;35051231;35580925;36241641;40972734;9593753", "class_list": "", "function": "Choline/H+ antiporter., [UniProtKB, PubMed, PubMed]; The present study indicated the important role of SLC44A5 as a tumor promoter in HCC through the inhibition of choline uptake, suggesting that SLC44A5 may be a potential target for HCC therapy., [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": 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 9452, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A0A0A0MRP1;B5MCU3;Q4G0K0;Q8NA44;Q8NB86", "ec_number_list": "", "go_molecular_function": "GO:0022857 transmembrane transporter activity;GO:0015297 antiporter 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;GO:0015871 choline transport", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q8NCS7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NFK1-1", "uniprot_id": "CXG3_HUMAN", "mass": 31299.0, "length": 279, "protein_name": "Gap junction gamma-3 protein", "gene_name": "GJC3", "organism": "Human", "refseq_name": "gap junction gamma-3 protein precursor", "refseq_ac": "NP_853516", "gene_names_uniprotkb": "GJC3; GJE1", "gene_names_refseq": "CX29; CX30.2; CX31.3; GJC3; GJE1", "protein_names_uniprotkb": "Gap junction gamma-3 protein; Connexin-30.2; Connexin-31.3; Cx30.2; Cx31.3; Gap junction epsilon-1 protein", "protein_names_refseq": "connexin 29; connexin-30.2; connexin-31.3; gap junction epsilon-1 protein; gap junction gamma-3 protein precursor; gap junction protein, gamma 3, 30.2kDa", "tax_id": 9606, "disease": "", "pathway": " (hsa:349149)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "12151525;12881038;18353664;19657183;19876648;24715725;28367085;28904123;32524838;34840390;35051231", "class_list": "", "function": "Based on these findings, we suggest that p.W77S mutant has a dominant negative effect on the formation and function of the gap junction. These results give a novel molecular elucidation for the mutation of GJC3 in the development of hearing loss. Publication Status: Online-Only, [RefSeq, PubMed]; Cx31.3 is localized to the gray matter along small myelinated fibers and is co-expressed with Cx32 in oligodendrocytes., [RefSeq, PubMed]; Data show that the p.E269D missense mutation resulted in accumulation of the Cx29 mutant protein in the endoplasmic reticulum rather than in the cytoplasmic membrane., [RefSeq, PubMed]; GJB4 and GJC3 variants in non-syndromic hearing impairment in Ghana., [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]; Pelizaeus-Merzbacher-Like Disease 1 Caused by a Novel Mutation in GJC2 Gene: A Case Report., [RefSeq, PubMed]; This gene encodes a gap junction protein. The encoded protein, also known as a connexin, plays a role in formation of gap junctions, which provide direct connections between neighboring cells. Mutations in this gene have been reported to be associated with nonsyndromic hearing loss.[provided by RefSeq, Feb 2010]., [RefSeq]; We suggest that the c.[43C-->G(+)230G-->C] compound heterozygous variant of Cx29 may be a risk factor for the development of hearing loss in Taiwanese., [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": "A4D296;Q86XI9", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0005243 gap junction channel activity", "go_cellular_component": "GO:0043209 myelin sheath;GO:0005922 connexin complex", "go_biological_process": "GO:0007267 cell-cell signaling", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q8NFK1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WWI5-1", "uniprot_id": "CTL1_HUMAN", "mass": 73302.0, "length": 657, "protein_name": "Choline transporter-like protein 1", "gene_name": "SLC44A1", "organism": "Human", "refseq_name": "choline transporter-like protein 1 isoform b", "refseq_ac": "NP_001273659", "gene_names_uniprotkb": "SLC44A1; CD92; CDW92; CTL1", "gene_names_refseq": "CD92; CDW92; CHTL1; CONATOC; CTL1; SLC44A1", "protein_names_uniprotkb": "Choline transporter-like protein 1; CDw92; Solute carrier family 44 member 1", "protein_names_refseq": "CDW92 antigen; choline transporter-like protein 1 isoform b; choline transporter-like protein 1; solute carrier family 44 (choline transporter), member 1", "tax_id": 9606, "disease": "high grade glioma (Disease Ontology:DOID:3070); neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline (MONDO:MONDO:0030028)", "pathway": " (hsa:23446); (R-HSA-1483191); (R-HSA-6798163); (R-HSA-9958517)", "pathway_count": 4, "publication_count": 84, "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;15691711;15715662;15911624;16319125;16729965;17007874;17158099;17491011;17561512;18669648;18691976;18694939;19236841;19357133;19915674;20207735;20338778;21926997;22223895;22825317;23090970;23328280;23651124;23901139;24190977;24732803;24828044;26005868;26048993;26945070;26992070;27486859;28657654;28821867;29741879;29769354;29786170;30429286;3057511;31154438;31844290;31848261;31855247;32157095;32350084;32387766;32938616;32983136;33124720;33672580;33789160;33912179;33968037;34171305;34357683;34509645;35051231;35251023;37074911;37217939;38176775;40596516;6163778;9593753", "class_list": "", "function": "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 (PubMed:19357133, PubMed:23651124, PubMed:31855247, PubMed:33789160). Also acts as a high-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). Involved in membrane synthesis and myelin production (PubMed:31855247)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Data suggest that an impaired choline transporter-like protein-1 trafficking is the key contributing factor to reduced choline uptake, subsequent to the PMA-induced THP-1 differentiation to macrophages., [RefSeq, 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]; Polymorphisms in the choline transporter SLC44A1 are associated with reduced cognitive performance in normotypic but not prenatal alcohol-exposed children., [RefSeq, PubMed]; This study provides the first example of CHT1 expression in neurons which do not use acetylcholine as neurotransmitter., [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": 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": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 15, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A6NLZ9;Q5VUB3;Q8WVB0;Q96KU3;Q9NY69", "ec_number_list": "", "go_molecular_function": "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:0005829 cytosol;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;GO:0042426 choline catabolic process;GO:0015871 choline transport", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "Q8WWI5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92771-1", "uniprot_id": "DDX12_HUMAN", "mass": 106006.0, "length": 950, "protein_name": "Putative ATP-dependent DNA helicase DDX12", "gene_name": "DDX12P", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "DDX12P; CHLR2; DDX12", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative ATP-dependent DNA helicase DDX12; 5.6.2.-; CHL1-related protein 2; DEAD/H box protein 12; hCHLR2", "protein_names_refseq": "", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); withdrawal disorder (Disease Ontology:DOID:0060001); developmental disorder of mental health (Disease Ontology:DOID:0060037); Warsaw breakage syndrome (Disease Ontology:DOID:0060535); Alzheimer's disease (Disease Ontology:DOID:10652); opioid abuse (Disease Ontology:DOID:11206); Huntington's disease (Disease Ontology:DOID:12858); cognitive disorder (Disease Ontology:DOID:1561); alcohol use disorder (Disease Ontology:DOID:1574); status epilepticus (Disease Ontology:DOID:1824); epilepsy (Disease Ontology:DOID:1826); post-traumatic stress disorder (Disease Ontology:DOID:2055); transient cerebral ischemia (Disease Ontology:DOID:224); bipolar disorder (Disease Ontology:DOID:3312); placental insufficiency (Disease Ontology:DOID:3891); schizophrenia (Disease Ontology:DOID:5419); vascular dementia (Disease Ontology:DOID:8725); colorectal cancer (Disease Ontology:DOID:9256); nasopharynx carcinoma (Disease Ontology:DOID:9261); hyperhomocysteinemia (Disease Ontology:DOID:9279); heroin dependence (Disease Ontology:DOID:9976)", "pathway": "", "pathway_count": 0, "publication_count": 13, "publication_id_list": "21209280;22424782;26154972;29557506;30315122;31844290;32157095;32265295;32387766;32502341;33141586;35051231;9013641", "class_list": "", "function": "DNA helicase involved in cellular proliferation. Probably required for maintaining the chromosome segregation (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": 21, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0003678 DNA helicase activity", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006139 nucleobase-containing compound metabolic process;GO:0034085 establishment of sister chromatid cohesion", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q92771-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96J86-1", "uniprot_id": "CYYR1_HUMAN", "mass": 16626.0, "length": 154, "protein_name": "Cysteine and tyrosine-rich protein 1", "gene_name": "CYYR1", "organism": "Human", "refseq_name": "cysteine and tyrosine-rich protein 1 isoform 1 precursor", "refseq_ac": "NP_001307697", "gene_names_uniprotkb": "CYYR1; C21orf95", "gene_names_refseq": "C21orf95; CYYR1", "protein_names_uniprotkb": "Cysteine and tyrosine-rich protein 1; Proline-rich domain-containing protein", "protein_names_refseq": "cysteine and tyrosine-rich protein 1 isoform 1 precursor; cysteine/tyrosine-rich 1; proline-rich domain-containing protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:116159)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "12036297;12062809;17442112;24981926;31844290;32350084;39059493", "class_list": "", "function": "A new 'subtle' splicing isoform (CAG+) of CYYR1 mRNA, the sequence & expression of this gene were defined in a series of NE tumors. This CAG+ codon determines the presence of an Ala residue at the exon 3/exon 4 junction of the CYYR1 mRNA. 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]; New CYYR1 alternative isoforms were identified and characterized., [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": "A0A059TD09;A8MTU9;B2R845;Q53ER3;Q5JPD0;Q96NV7;R9QAJ4;W8CQB3", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q96J86-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H1M3-1", "uniprot_id": "DB129_HUMAN", "mass": 20299.0, "length": 183, "protein_name": "Beta-defensin 129", "gene_name": "DEFB129", "organism": "Human", "refseq_name": "beta-defensin 129 precursor", "refseq_ac": "NP_543021", "gene_names_uniprotkb": "DEFB129; C20orf87; DEFB29; PRO19599", "gene_names_refseq": "C20orf87; DEFB-29; DEFB129; DEFB29; bA530N10.3; hBD-29", "protein_names_uniprotkb": "Beta-defensin 129; Beta-defensin 29; DEFB-29; Defensin, beta 129", "protein_names_refseq": "beta-defensin 129 precursor; beta-defensin 129; beta-defensin 29; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:140881); (R-HSA-1461957); (R-HSA-1461973)", "pathway_count": 3, "publication_count": 19, "publication_id_list": "10521347;10914484;11085990;11702237;11854508;11934878;12600824;12620395;12949495;12975309;18006661;20214904;20385753;20483750;21122132;24715725;29557506;35051231;9541493", "class_list": "", "function": "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 20p13. [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": 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": 9, "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": "Q8NES7", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0042742 defense response to bacterium", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q9H1M3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H1M4-1", "uniprot_id": "DB127_HUMAN", "mass": 11343.0, "length": 99, "protein_name": "Beta-defensin 127", "gene_name": "DEFB127", "organism": "Human", "refseq_name": "beta-defensin 127 preproprotein", "refseq_ac": "NP_620713", "gene_names_uniprotkb": "DEFB127; C20orf73; DEFB27; PRO6071", "gene_names_refseq": "C20orf73; DEF-27; DEFB-27; DEFB127; DEFB27; bA530N10.2; hBD-27", "protein_names_uniprotkb": "Beta-defensin 127; Beta-defensin 27; DEFB-27; Defensin, beta 127", "protein_names_refseq": "beta-defensin 127 preproprotein; beta-defensin 127; beta-defensin 27", "tax_id": 9606, "disease": "", "pathway": " (hsa:140850); (R-HSA-1461957); (R-HSA-1461973)", "pathway_count": 3, "publication_count": 18, "publication_id_list": "10521347;10914484;11085990;11702237;11854508;11934878;12620395;12949495;12975309;15340161;18006661;19423540;20214904;20385753;20483750;21122132;32077919;9541493", "class_list": "", "function": "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 20p13. [provided by RefSeq, Nov 2014]., [RefSeq]; Genome-wide association study on coronary artery disease in type 1 diabetes suggests beta-defensin 127 as a risk locus., [RefSeq, PubMed]; Has antibacterial activity., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, 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": 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": "Q14DW7", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0045087 innate immune response;GO:0050829 defense response to Gram-negative bacterium;GO:0061844 antimicrobial humoral immune response mediated by antimicrobial peptide;GO:0042742 defense response to bacterium", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q9H1M4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y4B6-1", "uniprot_id": "DCAF1_HUMAN", "mass": 169007.0, "length": 1507, "protein_name": "DDB1- and CUL4-associated factor 1", "gene_name": "DCAF1", "organism": "Human", "refseq_name": "DDB1- and CUL4-associated factor 1 isoform 2", "refseq_ac": "NP_001165375", "gene_names_uniprotkb": "DCAF1; KIAA0800; RIP; VPRBP", "gene_names_refseq": "DCAF1; RIP; VPRBP", "protein_names_uniprotkb": "DDB1- and CUL4-associated factor 1; 2.7.11.1; HIV-1 Vpr-binding protein; Serine/threonine-protein kinase VPRBP; Vpr-interacting protein; VprBP", "protein_names_refseq": "DDB1- and CUL4-associated factor 1 isoform 2; HIV-1 Vpr-binding protein; Vpr (HIV-1) binding protein; Vpr-binding protein; protein VPRBP; serine/threonine-protein kinase VPRBP; vpr-interacting protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:9730); (R-HSA-983168)", "pathway_count": 2, "publication_count": 158, "publication_id_list": "10.1101/2023.09.13.557529;11062501;11223251;11350924;12111997;12646216;14734113;15224091;15224092;15571818;16595681;16849449;16888644;16949367;16954532;16964240;17081983;17314515;17559673;17609381;17620334;17626091;17630831;18220336;18332868;18464893;18524771;18606781;18662542;18669648;19028597;19264781;19287380;19352404;19452197;19489725;19651622;19690332;19691289;19838296;19851334;19874575;19923175;19940261;20068231;20178741;20644714;21406692;22072767;22184063;22424782;22544926;2261476;22898188;23063525;23186163;23362280;23481700;24116224;24140421;24275569;24336198;24357321;24397554;24714562;24715725;25418920;25469497;25557551;25576301;25645385;25880248;25892735;26154972;26375851;26728094;26811146;26992070;27600516;27846572;27862975;27920218;28063628;28068668;28218747;28228285;28242748;28510447;28514659;28657654;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29891865;30297740;30315122;30429286;30484775;30524438;31217245;31492838;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34259627;34405274;34509645;34725712;34932366;35051231;35254053;35348747;35561310;35580925;36010968;36215666;36241641;36284347;36658304;37069142;37074911;37541260;38711082;39302247;40914422;8195203;9380723;9668046", "class_list": "", "function": "(Microbial infection) In case of infection by HIV-1 virus, it is recruited by HIV-1 Vpr in order to hijack the CUL4A-RBX1-DDB1-DCAF1/VPRBP function leading to arrest the cell cycle in G2 phase, and also to protect the viral protein from proteasomal degradation by another E3 ubiquitin ligase. The HIV-1 Vpr protein hijacks the CUL4A-RBX1-DDB1-DCAF1/VPRBP complex to promote ubiquitination and degradation of proteins such as TERT and ZIP/ZGPAT., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; (Microbial infection) In case of infection by HIV-2 virus, it is recruited by HIV-2 Vpx in order to hijack the CUL4A-RBX1-DDB1-DCAF1/VPRBP function leading to enhanced efficiency of macrophage infection and promotion of the replication of cognate primate lentiviruses in cells of monocyte/macrophage lineage., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Acts both as a substrate recognition component of E3 ubiquitin-protein ligase complexes and as an atypical serine/threonine-protein kinase, playing key roles in various processes such as cell cycle, telomerase regulation and histone modification. Probable substrate-specific adapter of a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex, named CUL4A-RBX1-DDB1-DCAF1/VPRBP complex, which mediates ubiquitination and proteasome-dependent degradation of proteins such as NF2 (PubMed:23063525). Involved in the turnover of methylated proteins: recognizes and binds methylated proteins via its chromo domain, leading to ubiquitination of target proteins by the RBX1-DDB1-DCAF1/VPRBP complex (PubMed:23063525). The CUL4A-RBX1-DDB1-DCAF1/VPRBP complex is also involved in B-cell development: DCAF1 is recruited by RAG1 to ubiquitinate proteins, leading to limit error-prone repair during V(D)J recombination (By similarity). Also part of the EDVP complex, an E3 ligase complex that mediates ubiquitination of proteins such as TERT, leading to TERT degradation and telomerase inhibition (PubMed:19287380, PubMed:23362280). The EDVP complex also mediates ubiquitination and degradation of CCP110 (PubMed:28242748, PubMed:34259627). Also acts as an atypical serine/threonine-protein kinase that specifically mediates phosphorylation of 'Thr-120' of histone H2A (H2AT120ph) in a nucleosomal context, thereby repressing transcription (PubMed:24140421). H2AT120ph is present in the regulatory region of many tumor suppresor genes, down-regulates their transcription and is present at high level in a number of tumors (PubMed:24140421). Involved in JNK-mediated apoptosis during cell competition process via its interaction with LLGL1 and LLGL2 (PubMed:20644714). By acting on TET dioxygenses, essential for oocyte maintenance at the primordial follicle stage, hence essential for female fertility (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; CircVPRBP inhibits nodal metastasis of cervical cancer by impeding RACK1 O-GlcNAcylation and stability. Erratum:[Oncogene. 2025 Jun;44(23):1887-1890. doi: 10.1038/s41388-025-03440-x. PMID: 40374746], [RefSeq, PubMed]; DCAF1 interacts with PARD3 to promote hepatocellular carcinoma progression and metastasis by activating the Akt signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Demonstration that a novel human gene, KIAA0800, is preferentially expressed in the testis and is transactivated by Sox9, [RefSeq, PubMed]; Hence, this chimeric peptide (TEAM-VP) constitutes the first example of a virus-derived mitochondriotoxic compound as a candidate to kill selectively tumor neo-endothelia., [RefSeq, PubMed]; Phosphorylation and stabilization of EZH2 by DCAF1/VprBP trigger aberrant gene silencing in colon cancer. Publication Status: Online-Only, [RefSeq, PubMed]; VPRBP Functions Downstream of the Androgen Receptor and OGT to Restrict p53 Activation in Prostate 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": 2, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 25, "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": "Q2YD74;Q8TBD9;Q9HCA1;Q9UG37", "ec_number_list": "2.7.11.1;2.7.11.21;2.3.2.24;2.3.2.23;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.3.2.26;2.7.11.24;2.3.2.27;2.7.11.25;2.7.10.2;2.7.12.1;2.3.2.31;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.3.2.-;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;6.2.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.34;2.3.2.32;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;3.6.4.-;2.7.11.38;2.7.11.34;2.3.2.25;2.3.2.36;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0005524 ATP binding;GO:0030331 nuclear estrogen receptor binding;GO:1990756 ubiquitin-like ligase-substrate adaptor activity;GO:1990244 histone H2AT120 kinase activity;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0001650 fibrillar center", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0043687 post-translational protein modification;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 17.1, "record_id": "Q9Y4B6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A8MYZ5-1", "uniprot_id": "IQCF6_HUMAN", "mass": 13059.0, "length": 107, "protein_name": "IQ domain-containing protein F6", "gene_name": "IQCF6", "organism": "Human", "refseq_name": "IQ domain-containing protein F6 isoform 3", "refseq_ac": "NP_001137305", "gene_names_uniprotkb": "IQCF6", "gene_names_refseq": "IQCF6", "protein_names_uniprotkb": "IQ domain-containing protein F6", "protein_names_refseq": "IQ domain-containing protein F6 isoform 3; IQ domain-containing protein F6", "tax_id": 9606, "disease": "", "pathway": " (hsa:440956)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;30444036;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": "", "ec_number_list": "", "go_molecular_function": "GO:0005516 calmodulin binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A8MYZ5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86VI3-1", "uniprot_id": "IQGA3_HUMAN", "mass": 184699.0, "length": 1631, "protein_name": "Ras GTPase-activating-like protein IQGAP3", "gene_name": "IQGAP3", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "IQGAP3", "gene_names_refseq": "", "protein_names_uniprotkb": "Ras GTPase-activating-like protein IQGAP3", "protein_names_refseq": "", "tax_id": 9606, "disease": "nonsyndromic deafness (Disease Ontology:DOID:0050563)", "pathway": " (hsa:128239); (R-HSA-5626467); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013406); (R-HSA-9013409)", "pathway_count": 9, "publication_count": 408, "publication_id_list": 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"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": 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": 0, "reported_glycation": 0, "reported_snv": 48, "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": "Q5T3H8", "ec_number_list": "", "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0005516 calmodulin binding;GO:0051015 actin filament binding;GO:0031267 small GTPase binding;GO:0070856 myosin VI light chain binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005911 cell-cell junction;GO:0005938 cell cortex;GO:0016328 lateral plasma membrane", "go_biological_process": "GO:1903479 mitotic actomyosin contractile ring assembly actin filament organization", "synthesized_glycan_count": 0, "hit_score": 41.3, "record_id": "Q86VI3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NYS0-1", "uniprot_id": "KBRS1_HUMAN", "mass": 21643.0, "length": 192, "protein_name": "NF-kappa-B inhibitor-interacting Ras-like protein 1", "gene_name": "NKIRAS1", "organism": "Human", "refseq_name": "NF-kappa-B inhibitor-interacting Ras-like protein 1 isoform 1", "refseq_ac": "NP_065078", "gene_names_uniprotkb": "NKIRAS1; KBRAS1", "gene_names_refseq": "KBRAS1; NKIRAS1; kappaB-Ras1", "protein_names_uniprotkb": "NF-kappa-B inhibitor-interacting Ras-like protein 1; I-kappa-B-interacting Ras-like protein 1; Kappa B-Ras protein 1; KappaB-Ras1", "protein_names_refseq": "I-kappa-B-interacting Ras-like protein 1; NF-kappa-B inhibitor-interacting Ras-like protein 1 isoform 1; NF-kappa-B inhibitor-interacting Ras-like protein 1; NFKB inhibitor interacting Ras-like protein 1; kappa B-Ras protein 1; kappa B-ras 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:28512); (R-HSA-1810476); (R-HSA-445989); (R-HSA-933542)", "pathway_count": 4, "publication_count": 47, "publication_id_list": "10657303;10723127;11237011;12221085;12672800;15024091;15145317;16056267;16115877;17047224;17728323;18434448;18462684;18941233;19590578;19666475;20696886;21302000;23156677;25576301;25645385;25869366;26375851;26992070;27701768;28228285;28832583;29786170;30315122;30429286;31154438;31222486;31844290;32157095;32357974;32983136;33592498;33968037;35051231;35318648;35580925;36010968;36241641;37931099;9008162;9689078;9865693", "class_list": "", "function": "A pan-cancer analysis implicates human NKIRAS1 as a tumor-suppressor gene., [RefSeq, PubMed]; Atypical Ras-like protein that acts as a potent regulator of NF-kappa-B activity by preventing the degradation of NF-kappa-B inhibitor beta (NFKBIB) by most signals, explaining why NFKBIB is more resistant to degradation. May act by blocking phosphorylation of NFKBIB and mediating cytoplasmic retention of p65/RELA NF-kappa-B subunit. It is unclear whether it acts as a GTPase. Both GTP- and GDP-bound forms block phosphorylation of NFKBIB., [UniProtKB, PubMed, PubMed, PubMed]; It was demonstrated that elevated levels of mRNA for NKIRAS1 was significantly associated both with loss of methylation in NKIRAS1 CpG-islands and methylation in a number of miRNA genes., [RefSeq, PubMed]; Low kappaB-Ras1 expression is associated with gliomas., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Significant correlation was found between alterations of methylation status of miR-34b/c, miR-193a and the expression level of NKIRAS1 target gene in the primary lung tumors., [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": 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": "Q96K18", "ec_number_list": "", "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0032794 GTPase activating protein binding", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0043124 negative regulation of canonical NF-kappaB signal transduction;GO:0032484 Ral protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q9NYS0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60662-1", "uniprot_id": "KLH41_HUMAN", "mass": 68037.0, "length": 606, "protein_name": "Kelch-like protein 41", "gene_name": "KLHL41", "organism": "Human", "refseq_name": "kelch-like protein 41", "refseq_ac": "NP_006054", "gene_names_uniprotkb": "KLHL41; KBTBD10; KRP1", "gene_names_refseq": "KBTBD10; KLHL41; Krp1; SARCOSIN", "protein_names_uniprotkb": "Kelch-like protein 41; Kel-like protein 23; Kelch repeat and BTB domain-containing protein 10; Kelch-related protein 1; Sarcosin", "protein_names_refseq": "kel-like protein 23; kelch repeat and BTB (POZ) domain containing 10; kelch-like protein 41; kelch-related protein 1; sarcomeric muscle protein", "tax_id": 9606, "disease": "nemaline myopathy 9 (Disease Ontology:DOID:0110929); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); nemaline myopathy (Disease Ontology:DOID:3191)", "pathway": " (hsa:10324); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 138, "publication_id_list": "10535940;10597293;10713668;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;15983046;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;19424503;19452197;19489725;19617556;19748355;19851334;19874575;19940261;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22959436;23201271;23333871;23401859;23453757;23481700;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24268659;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25531226;26344709;26460955;26632597;26906416;27030794;27222660;27565346;28115426;29153394;30192525;30610225;31154438;32005965;32284348;33444648;34171305;35051231;39531497;9380723;9655184;9668046;9790970;9887101;9891082", "class_list": "", "function": "Involved in skeletal muscle development and differentiation. Regulates proliferation and differentiation of myoblasts and plays a role in myofibril assembly by promoting lateral fusion of adjacent thin fibrils into mature, wide myofibrils. Required for pseudopod elongation in transformed cells., [UniProtKB, UniProtKB]; This gene is a member of the kelch-like family. The encoded protein contains a BACK domain, a BTB/POZ domain, and 5 Kelch repeats. This protein is thought to function in skeletal muscle development and maintenance. Mutations in this gene have been associated with nemaline myopathy (NM), a rare congenital muscle disorder. [provided by RefSeq, Mar 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": 0, "reported_glycation": 0, "reported_snv": 9, "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": "Q53R42", "ec_number_list": "", "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005789 endoplasmic reticulum membrane;GO:0031143 pseudopodium", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination;GO:0006941 striated muscle contraction;GO:0035914 skeletal muscle cell differentiation;GO:2000291 regulation of myoblast proliferation", "synthesized_glycan_count": 0, "hit_score": 14.1, "record_id": "O60662-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O94819-1", "uniprot_id": "KBTBB_HUMAN", "mass": 65720.0, "length": 623, "protein_name": "Kelch repeat and BTB domain-containing protein 11", "gene_name": "KBTBD11", "organism": "Human", "refseq_name": "kelch repeat and BTB domain-containing protein 11", "refseq_ac": "NP_055682", "gene_names_uniprotkb": "KBTBD11; CMLAP; KIAA0711; KLHDC7C", "gene_names_refseq": "KBTBD11; KLHDC7C", "protein_names_uniprotkb": "Kelch repeat and BTB domain-containing protein 11; Chronic myelogenous leukemia-associated protein; Kelch domain-containing protein 7B", "protein_names_refseq": "chronic myelogenous leukemia-associated protein; kelch domain-containing protein 7B; kelch repeat and BTB (POZ) domain containing 11; kelch repeat and BTB domain-containing protein 11", "tax_id": 9606, "disease": "", "pathway": " (hsa:9920)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "19413330;19664994;24275569;26992070;27862975;29267898;29393594;29557506;30429286;30833945;31154438;32387766;32897882;33392160;34509645;35051231;35580925", "class_list": "", "function": "Our study highlighted the high colorectal cancer risk of people carrying MYC rs6983267 G and KBTBD11 rs11777210 C alleles, [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": "Q3L1I0", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "O94819-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P50053-1", "uniprot_id": "KHK_HUMAN", "mass": 32523.0, "length": 298, "protein_name": "Ketohexokinase", "gene_name": "KHK", "organism": "Human", "refseq_name": "ketohexokinase isoform a", "refseq_ac": "NP_000212", "gene_names_uniprotkb": "KHK", "gene_names_refseq": "FRUCTU; KHK", "protein_names_uniprotkb": "Ketohexokinase; 2.7.1.3; Hepatic fructokinase", "protein_names_refseq": "hepatic fructokinase; ketohexokinase isoform a; testicular tissue protein Li 102", "tax_id": 9606, "disease": "essential fructosuria (Disease Ontology:DOID:0111680)", "pathway": " (hsa:3795); (R-HSA-5657562); (R-HSA-70350)", "pathway_count": 3, "publication_count": 44, "publication_id_list": "11237011;11679716;12941785;13093749;16266770;16289032;16753811;19237742;20841500;20949620;22098443;22371574;23444097;24289155;24569995;2537226;25576301;25880248;27397612;27862975;28228285;29557506;31154438;31844290;31848261;32157095;32357974;33116123;33621267;33912179;34561969;35133629;35257833;37074911;37230214;37938771;4688871;5353106;5777313;7833921;805723;8535439;9610797;9799106", "class_list": "glycogene", "function": "Catalyzes the phosphorylation of the ketose sugar fructose to fructose-1-phosphate., [UniProtKB, PubMed]; Fructose induced KHK-C can increase ER stress independent of its effect on lipogenesis to drive liver disease in diet-induced and genetic models of NAFLD., [RefSeq, PubMed]; GLUT5-KHK axis-mediated fructose metabolism drives proliferation and chemotherapy resistance of colorectal cancer., [RefSeq, PubMed]; Ketohexokinase-A acts as a nuclear protein kinase that mediates fructose-induced metastasis in breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Prevalence and cardiometabolic correlates of ketohexokinase gene variants among UK Biobank participants. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes ketohexokinase that catalyzes conversion of fructose to fructose-1-phosphate. The product of this gene is the first enzyme with a specialized pathway that catabolizes dietary fructose. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]; USP36 promotes tumor growth of non-small cell lung cancer via increasing KHK-A expression by regulating c-MYC-hnRNPH1/H2 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": 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": 383, "reported_interactions": 0, "missing_score": 9835, "biomarker_type": "", "glycan_count": 4, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6IBK2;Q99532;Q9BRJ3;Q9UMN1", "ec_number_list": "2.7.1.3", "go_molecular_function": "GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0070061 fructose binding;GO:0004454 ketohexokinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0032868 response to insulin;GO:0006000 fructose metabolic process;GO:0070873 regulation of glycogen metabolic process", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "P50053-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P78411-1", "uniprot_id": "IRX5_HUMAN", "mass": 50361.0, "length": 483, "protein_name": "Iroquois-class homeodomain protein IRX-5", "gene_name": "IRX5", "organism": "Human", "refseq_name": "iroquois-class homeodomain protein IRX-5 isoform 2", "refseq_ac": "NP_001239126", "gene_names_uniprotkb": "IRX5; IRX2A; IRXB2", "gene_names_refseq": "HMMS; IRX-2a; IRX5; IRXB2", "protein_names_uniprotkb": "Iroquois-class homeodomain protein IRX-5; Homeodomain protein IRX-2A; Homeodomain protein IRXB2; Iroquois homeobox protein 5", "protein_names_refseq": "homeodomain protein IRX-2A; homeodomain protein IRXB2; iroquois-class homeodomain protein IRX-5 isoform 2; iroquois-class homeodomain protein IRX-5", "tax_id": 9606, "disease": "dilated cardiomyopathy (Disease Ontology:DOID:12930); craniofacial dysplasia - osteopenia syndrome (MONDO:MONDO:0012634)", "pathway": " (hsa:10265)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "10370142;11237011;16527195;18519790;22581230;23186163;27600516;29331515;29786170;30429286;31848261;32157095;32161166;32387766;32502341;33891002;33968037;34083488;34167624;35328612;35580925;38666481", "class_list": "", "function": "A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect., [RefSeq, PubMed]; Establishes the cardiac repolarization gradient by its repressive actions on the KCND2 potassium-channel gene. Required for retinal cone bipolar cell differentiation. May regulate contrast adaptation in the retina and control specific aspects of visual function in circuits of the mammalian retina (By similarity). Could be involved in the regulation of both the cell cycle and apoptosis in prostate cancer cells. Involved in craniofacial and gonadal development. Modulates the migration of progenitor cell populations in branchial arches and gonads by repressing CXCL12., [UniProtKB, PubMed]; Extensive pleiotropism and allelic heterogeneity mediate metabolic effects of IRX3 and IRX5., [RefSeq, PubMed]; IRX5 suppresses osteogenic differentiation of hBMSCs by inhibiting protein synthesis., [RefSeq, PubMed]; Involved in transcriptional regulation of heart morphogenesis, [RefSeq, PubMed]; Iroquois Homeobox 5 Negatively Regulated by miRNA-147 Promotes the Proliferation, Metastasis, and Invasion by Oral Squamous Cell Carcinoma., [RefSeq, PubMed]; Irx5 is involved in the regulation of both the cell cycle and apoptosis in human prostate cancer cells, [RefSeq, PubMed]; The Hematopoietic TALE-Code Shows Normal Activity of IRX1 in Myeloid Progenitors and Reveals Ectopic Expression of IRX3 and IRX5 in Acute Myeloid Leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the iroquois homeobox gene family, which are involved in several embryonic developmental processes. Knockout mice lacking this gene show that it is required for retinal cone bipolar cell differentiation, and that it negatively regulates potassium channel gene expression in the heart to ensure coordinated cardiac repolarization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]., [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": 2, "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": 2, "binding_glycan_count": 0, "secondary_ac_list": "H0YMS7;P78416;Q7Z2E1", "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:0005499 vitamin D binding;GO:1990837 sequence-specific double-stranded DNA binding", "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:0007601 visual perception;GO:0030182 neuron differentiation;GO:0048701 embryonic cranial skeleton morphogenesis", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "P78411-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P78504-1", "uniprot_id": "JAG1_HUMAN", "mass": 133799.0, "length": 1218, "protein_name": "Protein jagged-1", "gene_name": "JAG1", "organism": "Human", "refseq_name": "protein jagged-1 precursor", "refseq_ac": "NP_000205", "gene_names_uniprotkb": "JAG1; JAGL1", "gene_names_refseq": "AGS1; AGS; AHD; AWS; CD339; CMT2HH; DCHE; HJ1; JAG1; JAGL1", "protein_names_uniprotkb": "Protein jagged-1; Jagged1; hJ1", "protein_names_refseq": "jagged-1 protein; protein jagged-1 precursor; protein jagged-1", "tax_id": 9606, "disease": "chronic pancreatitis (Disease Ontology:DOID:0051065); Charcot-Marie-Tooth disease (Disease Ontology:DOID:10595); dilated cardiomyopathy (Disease Ontology:DOID:12930); temporal arteritis (Disease Ontology:DOID:13375); congenital heart disease (Disease Ontology:DOID:1682); multiple sclerosis (Disease Ontology:DOID:2377); pulmonary fibrosis (Disease Ontology:DOID:3770); tetralogy of Fallot (Disease Ontology:DOID:6419); hepatocellular carcinoma (Disease Ontology:DOID:684); osteoarthritis (Disease Ontology:DOID:8398); Alagille syndrome (Disease Ontology:DOID:9245); Charcot-Marie-Tooth disease, axonal, Type 2HH (MONDO:MONDO:0030458); deafness, congenital heart defects, and posterior embryotoxon (MONDO:MONDO:0060713)", "pathway": " (hsa:182); (R-HSA-2122948); (R-HSA-2644606); (R-HSA-2660826); (R-HSA-2691232); (R-HSA-2894862); (R-HSA-2979096); (R-HSA-8941856); (R-HSA-9013149); (R-HSA-9013423); (R-HSA-9013507); (R-HSA-9013700); (R-HSA-9831926)", "pathway_count": 13, "publication_count": 366, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10079256;10206645;10220506;10232922;10329626;10464238;10490598;10508610;10523665;10523675;10526156;10533065;10551863;10559246;10579713;10618392;10699171;10699464;10713164;10873802;10879540;10882063;10934472;10958683;10958687;10964718;10978356;11006133;11007481;11044625;11058585;11058898;11085924;11139247;11149925;11152664;11157803;11171333;11180599;11226752;11237011;11373293;11396949;11431473;11432776;11518718;11584276;11672528;11704860;11707441;11740940;11756552;11773441;11803464;11804587;11804589;11804590;11823422;11861489;11884391;11912491;11956649;11961559;12022040;12050117;12071859;12093360;12096337;12195014;12209127;12221096;12297837;12351724;12354787;12391150;12432077;12442286;12497640;12530964;12531887;12546821;12547822;12649809;12650940;12665586;12857875;12877655;12923183;14512443;14514689;14567914;1464587;14675773;14718541;14980219;15023524;15033976;15064355;15107133;15107403;15133129;15147912;15302923;15339924;15342493;15485661;15507211;15533827;15546612;15569487;15574878;15579468;15601624;15611138;15652348;15712272;15728722;15760269;15824097;15829515;15850391;15858067;15897194;15965470;16002401;16093323;16112081;16116428;16184169;16243036;16284625;16473593;16492808;16507994;16519628;16530044;16575836;16636067;16702231;16738328;16762923;16773578;16777452;16777849;16862148;16896804;16914516;16968698;17003037;17028573;17077126;17114293;17145773;17196961;17214551;17244649;17401372;17583407;17584876;17599059;17646408;17646409;17702745;17765681;17804252;17976533;18006505;18043734;18045877;18077452;18218625;18237417;18249095;18296446;1831692;18347018;18374649;18396277;1840698;18418349;18426980;18469519;18628966;18653540;18660822;18697831;18700817;18824583;18824585;18838382;19000840;19151708;19208840;19269969;19494238;19524514;19534724;19567869;19586525;19605563;19673492;19713215;19726682;19800882;19934221;19948535;20156974;20400958;20437614;20460433;20679435;20810653;20972443;21148482;21542010;21565175;21613211;21632553;21637926;21730051;21865595;21989057;22004470;22096251;22162134;22298643;22407364;22475431;22608513;22658935;22658936;22734669;22970203;23090970;23209303;23255595;23288169;23434736;23572525;23584533;23707487;23718289;23801938;23940355;24086303;24190977;24259668;24335996;24352656;24842903;24859002;24933155;24960694;25024229;25125655;25211221;25356737;25428919;25502872;25704760;25721503;25740432;25795300;25862245;26129894;26529257;26628301;26887924;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27806292;28114311;28196833;28356423;29089502;29242379;29358323;29382922;29856954;29856955;30429286;30573663;30853411;3153318;31871319;32065591;32157095;32203420;32350084;32983136;33141586;33592498;33968037;33981976;35051231;35318648;37074911;38245625;38521405;38750026;38783634;39244638;7479768;7512369;7559638;7566092;7588063;7673236;7721814;7753201;7835339;8021274;803282;8107774;8313469;8537347;8543060;8643598;8645157;8662891;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8955070;8990121;8994827;9013646;9099726;9113980;9207787;9207788;9244301;9252344;9268641;9305890;9315665;9384573;9438849;9462510;9490638;9497316;9582072;9585603;9590294;9604939;9620803;9651681;9659915;9670022;9694793;9792683;9819428;9822598;9843499;9988689", "class_list": "", "function": "Hypermethylation leads to the loss of HOXA5, resulting in JAG1 expression and NOTCH signaling contributing to kidney fibrosis., [RefSeq, PubMed]; Investigation of cryptic JAG1 splice variants as a cause of Alagille syndrome and performance evaluation of splice predictor tools., [RefSeq, PubMed]; Jag1/2 maintain esophageal homeostasis and suppress foregut tumorigenesis by restricting the basal progenitor cell pool. Publication Status: Online-Only, [RefSeq, PubMed]; Jagged1-Notch1 Signaling Pathway Induces M1 Microglia to Disrupt the Barrier Function of Retinal Microvascular Endothelial Cells., [RefSeq, PubMed]; Ligand for multiple Notch receptors and involved in the mediation of Notch signaling (PubMed:18660822, PubMed:20437614). May be involved in cell-fate decisions during hematopoiesis (PubMed:9462510). Seems to be involved in early and late stages of mammalian cardiovascular development. Inhibits myoblast differentiation (By similarity). Enhances fibroblast growth factor-induced angiogenesis (in vitro)., [UniProtKB, PubMed, PubMed, PubMed]; Novel JAG1 variants leading to Alagille syndrome in two Chinese cases. Publication Status: Online-Only, [RefSeq, PubMed]; The jagged 1 protein encoded by JAG1 is the human homolog of the Drosophilia jagged protein. Human jagged 1 is the ligand for the receptor notch 1, the latter is involved in signaling processes. Mutations that alter the jagged 1 protein cause Alagille syndrome. Jagged 1 signalling through notch 1 has also been shown to play a role in hematopoiesis. [provided by RefSeq, Nov 2019]., [RefSeq]", "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": 3, "reported_o_glycosites": 1, "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": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 82, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 13, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "A0AV43;B4DYR1;E9PCF9;O14902;O15122;Q15816", "ec_number_list": "", "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0005543 phospholipid binding;GO:0005198 structural molecule activity;GO:0005509 calcium ion binding;GO:0005112 Notch binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0005912 adherens junction;GO:0016020 membrane;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0072006 nephron development;GO:0072070 loop of Henle development;GO:0001525 angiogenesis;GO:0007219 Notch signaling pathway;GO:0007399 nervous system development", "synthesized_glycan_count": 0, "hit_score": 37.7, "record_id": "P78504-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q0D2K2-1", "uniprot_id": "KLH30_HUMAN", "mass": 63976.0, "length": 578, "protein_name": "Kelch-like protein 30", "gene_name": "KLHL30", "organism": "Human", "refseq_name": "kelch-like protein 30", "refseq_ac": "NP_940984", "gene_names_uniprotkb": "KLHL30", "gene_names_refseq": "KLHL30", "protein_names_uniprotkb": "Kelch-like protein 30", "protein_names_refseq": "kelch-like 30; kelch-like protein 30", "tax_id": 9606, "disease": "", "pathway": " (hsa:377007)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "24715725;29242379;30192525;30429286;31844290;31848261;32387766;34087483;35051231;38253038", "class_list": "", "function": "", "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": 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": 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": "Q6ZUS1", "ec_number_list": "", "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0031463 Cul3-RING ubiquitin ligase complex", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q0D2K2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13118-1", "uniprot_id": "KLF10_HUMAN", "mass": 52555.0, "length": 480, "protein_name": "Krueppel-like factor 10", "gene_name": "KLF10", "organism": "Human", "refseq_name": "Krueppel-like factor 10 isoform b", "refseq_ac": "NP_001027453", "gene_names_uniprotkb": "KLF10; TIEG1; TIEG", "gene_names_refseq": "EGR-alpha; EGRA; KLF10; TIEG1; TIEG", "protein_names_uniprotkb": "Krueppel-like factor 10; EGR-alpha; TGFB-inducible early growth response protein 1; TIEG-1; Transforming growth factor-beta-inducible early growth response protein 1", "protein_names_refseq": "Krueppel-like factor 10 isoform b; Kruppel like factor 10; TGFB-inducible early growth response protein 1; early growth response-alpha; krueppel-like factor 10; transforming growth factor-beta-inducible early growth response protein 1; zinc finger transcription factor TIEG", "tax_id": 9606, "disease": "", "pathway": " (hsa:7071)", "pathway_count": 1, "publication_count": 81, "publication_id_list": "12072443;12804117;16964243;18669648;20953893;22645359;23134681;23186163;23481700;23994618;24715725;25576301;25728284;25880248;26024233;26154972;26375851;26992070;27397612;27846572;27862975;27869121;27920218;28228285;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29786170;30315122;30410026;30429286;30484775;30524438;30779550;31154438;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32502341;32938616;32983136;33123756;33141586;33298915;33537174;33592498;33633747;33717175;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;34561969;34932366;35051231;35318648;35580925;36010968;36215666;36241641;36284347;37938771;38279278;38523597;38582490;8532536;8584037;9721211", "class_list": "", "function": "CircITGA7 regulates malignant phenotypes in bladder cancer cells via targeting miR-330-3p/KLF10 axis., [RefSeq, PubMed]; Kruppel-like factor 10 protects against metabolic dysfunction-associated steatohepatitis by regulating HNF4alpha-mediated metabolic pathways., [RefSeq, PubMed]; New Insights into the Role of KLF10 in Tissue Fibrosis. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of a family of proteins that feature C2H2-type zinc finger domains. The encoded protein is a transcriptional repressor that acts as an effector of transforming growth factor beta signaling. Activity of this protein may inhibit the growth of cancers, particularly pancreatic cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]., [RefSeq]; Transcriptional repressor which binds to the consensus sequence 5'-GGTGTG-3'. Plays a role in the regulation of the circadian clock; binds to the GC box sequence in the promoter of the core clock component ARTNL/BMAL1 and represses its transcriptional activity. Regulates the circadian expression of genes involved in lipogenesis, gluconeogenesis, and glycolysis in the liver. Represses the expression of PCK2, a rate-limiting step enzyme of gluconeogenesis (By similarity). May play a role in the cell cycle regulation., [UniProtKB, PubMed, 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": 7, "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": "A8MVH0;B2R794;L0R4P6;L0R679;O75411;Q503B2", "ec_number_list": "", "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;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:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "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;GO:0007267 cell-cell signaling;GO:0008285 negative regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "Q13118-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q14500-1", "uniprot_id": "KCJ12_HUMAN", "mass": 49001.0, "length": 433, "protein_name": "ATP-sensitive inward rectifier potassium channel 12", "gene_name": "KCNJ12", "organism": "Human", "refseq_name": "ATP-sensitive inward rectifier potassium channel 12", "refseq_ac": "NP_066292", "gene_names_uniprotkb": "KCNJ12; IRK2; KCNJN1", "gene_names_refseq": "IRK-2; IRK2; KCNJ12; KCNJN1; Kir2.2; hIRK1; hIRK; hkir2.2x; kcnj12x", "protein_names_uniprotkb": "ATP-sensitive inward rectifier potassium channel 12; IRK-2; Inward rectifier K(+) channel Kir2.2v; Inward rectifier K(+) channel Kir2.2; Potassium channel, inwardly rectifying subfamily J member 12", "protein_names_refseq": "ATP-sensitive inward rectifier potassium channel 12; potassium channel, inwardly rectifying subfamily J, member 12; potassium voltage-gated channel subfamily J member 12", "tax_id": 9606, "disease": "EAST syndrome (Disease Ontology:DOID:0060484)", "pathway": " (hsa:3768); (R-HSA-1296041); (R-HSA-1296053); (R-HSA-5576886); (R-HSA-997272)", "pathway_count": 5, "publication_count": 22, "publication_id_list": "11181181;12032359;12417321;15795311;16382106;17185339;17652773;18669648;20393194;20453851;20655490;20921230;21209095;25576301;26992070;30838349;31530632;33981976;34755307;7859381;8647284;9430667", "class_list": "", "function": "CircRNA hsa_circ_0014130 function as a miR-132-3p sponge for playing oncogenic roles in bladder cancer via upregulating KCNJ12 expression., [RefSeq, PubMed]; Inward rectifying potassium channel that probably participates in controlling the resting membrane potential in electrically excitable cells. Probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Therefore, we conclude that Kir2.2 p.Thr140Met may be most safely interpreted as a SPP susceptibility variant and it should be included in the genetic testing scheme for diagnosing SPP. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier current (IK1). The gene is located within the Smith-Magenis syndrome region on chromosome 17. [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": 0, "reported_glycation": 0, "reported_snv": 46, "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": "O43401;Q15756;Q8NG63", "ec_number_list": "1.8.-.-", "go_molecular_function": "GO:0046872 metal ion binding;GO:0005242 inward rectifier potassium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030315 T-tubule;GO:0034702 monoatomic ion channel complex", "go_biological_process": "GO:0006936 muscle contraction;GO:0051289 protein homotetramerization;GO:0008016 regulation of heart contraction;GO:0006813 potassium ion transport;GO:1990573 potassium ion import across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q14500-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15726-1", "uniprot_id": "KISS1_HUMAN", "mass": 14705.0, "length": 138, "protein_name": "Metastasis-suppressor KiSS-1", "gene_name": "KISS1", "organism": "Human", "refseq_name": "metastasis-suppressor KiSS-1 preproprotein", "refseq_ac": "NP_002247", "gene_names_uniprotkb": "KISS1; PP5098", "gene_names_refseq": "HH13; KISS1; KiSS-1", "protein_names_uniprotkb": "Metastasis-suppressor KiSS-1; Kisspeptin-1; Kisspeptin-54", "protein_names_refseq": "kisspeptin-1; malignant melanoma metastasis-suppressor; metastasis-suppressor KiSS-1 preproprotein; metastasis-suppressor-1; metastin; prepro-kisspeptin", "tax_id": 9606, "disease": "hypogonadotropic hypogonadism 13 with or without anosmia (Disease Ontology:DOID:0090073); pre-eclampsia (Disease Ontology:DOID:10591); urinary bladder cancer (Disease Ontology:DOID:11054); transitional cell carcinoma (Disease Ontology:DOID:2671); endometrial carcinoma (Disease Ontology:DOID:2871); invasive ductal carcinoma (Disease Ontology:DOID:3008); ovarian carcinoma (Disease Ontology:DOID:4001); trophoblastic neoplasm (Disease Ontology:DOID:4085)", "pathway": " (hsa:3814); (R-HSA-375276); (R-HSA-416476)", "pathway_count": 3, "publication_count": 141, "publication_id_list": "10079109;10100623;10191087;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10567430;10604470;10727532;10854085;10861009;10899166;11015615;11322507;11385580;11457843;11527393;11562423;11683476;11742120;11753430;11773063;12120503;12414911;12427552;12540846;12574233;12719537;1280419;12879005;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;15020672;15139756;15144186;15219839;15498874;15539556;15596153;15598687;1567413;15947423;15951850;16182515;16268778;16339447;1655761;16754659;16923326;1710450;1710578;1719979;1722333;18127230;18434541;1847994;18515384;18577758;18936096;1905813;22209985;22335740;23446738;23690594;24906252;25147978;2649896;27496565;2841328;3086311;3202875;32157095;3366244;33968037;3525564;38512807;3856870;38878622;38935498;38948287;38976640;39126595;39151001;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7797512;7905839;7937899;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8440682;8463333;8503909;8615752;8664309;8666380;8702752;873923;8823230;8944003;9171878;9305846;9521323;9530155;9593744;9607765;9685625;9722565;9770463;9792798;9806840;9832121;9851594", "class_list": "", "function": "An association between fat mass and obesity-associated (FTO) (rs9939609) and kisspeptin-1 (KISS-1) (rs4889, rs372790354) gene polymorphisms with polycystic ovary syndrome: an updated meta-analysis and power analysis., [RefSeq, PubMed]; Binds the G protein-coupled receptor KISS1R/GPR54 and triggers G protein-coupled receptor signaling via activation of G(q) and phosphatidylinositol 4,5-bisphosphate (PIP2) hydrolysis by phospholipase C (PubMed:11457843, PubMed:22335740). Binding to the receptor also activates beta-arrestin-dependent signaling resulting in ERK1/2 phosphorylation (PubMed:11457843, PubMed:25147978). Activation of the receptor inhibits cell proliferation and cell migration, and is involved in the regulation of trophoblast invasion during early stages of pregnancy. Is also involved in the modulation of airway smooth muscle cells migration (PubMed:11457843, PubMed:15020672, PubMed:38512807). In bone tissue, activation of KISS1R by kisspeptin-10 recruits phosphatase DUSP18 and SRC to the KISS1R C-terminus through a G(q)-dependent signaling pathway. This leads to DUSP18-mediated dephosphorylation of SRC, down-regulation of osteoclast differentiation and activity, and consequently suppression of bone resorption (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Kisspeptin signalling and its correlation with placental ultrastructure and clinical outcomes in pregnant South African women with obesity and gestational diabetes., [RefSeq, PubMed]; Kisspeptin/KISS1R Signaling Modulates Human Airway Smooth Muscle Cell Migration., [RefSeq, PubMed]; Kisspeptins are ligands for the G protein-coupled receptor KISS1R/GPR54 (PubMed:11385580, PubMed:11457843, PubMed:11527393, PubMed:12879005, PubMed:15020672, PubMed:15596153). The hypothalamic KISS1/KISS1R signaling system plays a central role in the regulation of the hypothalamic-pituitary-gonadal reproductive axis by modulating the secretion of gonadotropin-releasing hormone (GnRH) from GnRH neurons (PubMed:15219839, PubMed:15598687, PubMed:22335740). In these neurons, kisspeptin binding to its receptor activates G(q)-dependent signaling, leading to phospholipase C (PLC) activation, and hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) (PubMed:15598687, PubMed:22335740). The subsequent rise in intracellular calcium levels results in the inhibition of inward rectifier potassium channels and activation of TRPC-like cation channels, leading to GnRH neurons depolarization and stimulation (By similarity). In addition to this pathway, kisspeptin also triggers G(q)-independent signaling via beta-arrestin, leading to MAPK cascade activation and ERK1/ERK2 phosphorylation (PubMed:25147978). Kisspeptins are also involved in the regulation of other processes including cell growth, cell proliferation and cell migration (PubMed:11385580, PubMed:11457843, PubMed:11527393, PubMed:12879005, PubMed:15020672, PubMed:15596153)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Receptor binding triggers G protein-coupled receptor signaling via activation of G(q) and phosphatidylinositol 4,5-bisphosphate (PIP2) hydrolysis by phospholipase C., [UniProtKB, PubMed]; The role of placental kisspeptin in trophoblast invasion and migration: an assessment in Kiss1r knockout mice, BeWo cell lines and human term placenta., [RefSeq, PubMed]; This gene is a metastasis suppressor gene that suppresses metastases of melanomas and breast carcinomas without affecting tumorigenicity. The encoded protein may inhibit chemotaxis and invasion and thereby attenuate metastasis in malignant melanomas. Studies suggest a putative role in the regulation of events downstream of cell-matrix adhesion, perhaps involving cytoskeletal reorganization. A protein product of this gene, kisspeptin, stimulates gonadotropin-releasing hormone (GnRH)-induced gonadotropin secretion and regulates the pubertal activation of GnRH neurons. A polymorphism in the terminal exon of this mRNA results in two protein isoforms. An adenosine present at the polymorphic site represents the third position in a stop codon. When the adenosine is absent, a downstream stop codon is utilized and the encoded protein extends for an additional seven amino acid residues. [provided by RefSeq, Jun 2022]., [RefSeq]; [Notch1/Akt/Foxo1 Pathway Regulated by Kisspeptin Is Involved in Endometrial Decidualization in Patients With Recurrent Spontaneous Abortion]., [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": 8, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K6N0;Q9HBP1", "ec_number_list": "", "go_molecular_function": "GO:0031773 kisspeptin receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007010 cytoskeleton organization;GO:0045779 negative regulation of bone resorption;GO:0033686 positive regulation of luteinizing hormone secretion", "synthesized_glycan_count": 0, "hit_score": 14.2, "record_id": "Q15726-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3LI54-1", "uniprot_id": "KR198_HUMAN", "mass": 6918.0, "length": 63, "protein_name": "Keratin-associated protein 19-8", "gene_name": "KRTAP19-8", "organism": "Human", "refseq_name": "keratin-associated protein 19-8", "refseq_ac": "NP_001092689", "gene_names_uniprotkb": "KRTAP19-8; KAP19.8", "gene_names_refseq": "KRTAP19-8", "protein_names_uniprotkb": "Keratin-associated protein 19-8", "protein_names_refseq": "keratin-associated protein 19-8", "tax_id": 9606, "disease": "", "pathway": " (hsa:728299); (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": 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:0005882 intermediate filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q3LI54-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3LI61-1", "uniprot_id": "KR202_HUMAN", "mass": 6961.0, "length": 65, "protein_name": "Keratin-associated protein 20-2", "gene_name": "KRTAP20-2", "organism": "Human", "refseq_name": "keratin-associated protein 20-2", "refseq_ac": "NP_853647", "gene_names_uniprotkb": "KRTAP20-2; KAP20.2", "gene_names_refseq": "KAP20.2; KRTAP20-2", "protein_names_uniprotkb": "Keratin-associated protein 20-2", "protein_names_refseq": "keratin-associated protein 20-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:337976); (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": 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_cellular_component": "GO:0005829 cytosol;GO:0005882 intermediate filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q3LI61-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3LI81-1", "uniprot_id": "KR271_HUMAN", "mass": 22345.0, "length": 207, "protein_name": "Keratin-associated protein 27-1", "gene_name": "KRTAP27-1", "organism": "Human", "refseq_name": "keratin-associated protein 27-1", "refseq_ac": "NP_001071179", "gene_names_uniprotkb": "KRTAP27-1; KAP27.1", "gene_names_refseq": "KRTAP27-1", "protein_names_uniprotkb": "Keratin-associated protein 27-1", "protein_names_refseq": "keratin-associated protein 27-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:643812); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 11, "publication_id_list": "15373777;16382671;1691188;1694855;1714783;17521629;23481192;2414304;25208914;31637018;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": 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": 16, "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:0005198 structural molecule activity", "go_cellular_component": "GO:0005829 cytosol;GO:0045095 keratin filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q3LI81-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3MIV0-1", "uniprot_id": "KR221_HUMAN", "mass": 5275.0, "length": 48, "protein_name": "Keratin-associated protein 22-1", "gene_name": "KRTAP22-1", "organism": "Human", "refseq_name": "keratin-associated protein 22-1", "refseq_ac": "NP_853651", "gene_names_uniprotkb": "KRTAP22-1; KAP22.1", "gene_names_refseq": "KAP22.1; KRTAP22-1", "protein_names_uniprotkb": "Keratin-associated protein 22-1", "protein_names_refseq": "keratin-associated protein 22-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:337979); (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": 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:0005882 intermediate filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q3MIV0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5TCS8-4", "uniprot_id": "KAD9_HUMAN", "mass": 221413.0, "length": 1911, "protein_name": "Adenylate kinase 9", "gene_name": "AK9", "organism": "Human", "refseq_name": "adenylate kinase 9 isoform 1", "refseq_ac": "NP_001138600", "gene_names_uniprotkb": "AK9; AKD1; AKD2; C6orf199; C6orf224", "gene_names_refseq": "AK 9; AK9; AKD1; AKD2; C6orf199; C6orf224; SPGF89; dJ70A9.1", "protein_names_uniprotkb": "Adenylate kinase 9; 2.7.4.4; 2.7.4.6; Adenylate kinase domain-containing protein 1; Adenylate kinase domain-containing protein 2", "protein_names_refseq": "adenylate kinase 9 isoform 1; adenylate kinase domain containing 1; adenylate kinase domain containing 2", "tax_id": 9606, "disease": "spermatogenic failure 89 (Disease Ontology:DOID:0070588); normal pressure hydrocephalus (Disease Ontology:DOID:1572)", "pathway": " (hsa:221264); (R-HSA-499943)", "pathway_count": 2, "publication_count": 81, "publication_id_list": "10215863;10453732;10618642;10716435;10799505;10884394;10899599;11277919;11278511;11517226;11796141;11912132;12972261;13211603;14729598;15630091;16179339;16373698;16756507;16820675;17320107;177353;17824959;18469;1851158;18635542;18997010;19176520;19220460;19766732;21080915;211388;211390;22847445;23416111;2542324;25576301;25645385;25892735;2656695;2668278;26992070;27600516;27966543;29242379;29557506;30379171;31844290;32157095;32387766;32488085;32938616;32983136;33091337;33298915;33912179;33936100;33968037;34087483;34509645;34561969;34932366;35051231;35494241;36215666;36241641;37217939;37713809;38051288;38100419;39894887;40615;5484814;6182143;6248551;7685356;7851394;8448179;8663313;9488696;9677297", "class_list": "", "function": "A role for mutations in AK9 and other genes affecting ependymal cells in idiopathic normal pressure hydrocephalus., [RefSeq, PubMed]; AK2 identified as a novel disease modifier in RASPN-associated limb girdle myasthenia., [RefSeq, PubMed]; Broad-specificity nucleoside phosphate kinase involved in cellular nucleotide homeostasis by catalyzing nucleoside-phosphate interconversions. Similar to other adenylate kinases, preferentially catalyzes the phosphorylation of the nucleoside monophosphate AMP with ATP as phosphate donor to produce ADP. In vitro, can also catalyze the phosphorylation of CMP, dAMP and dCMP and use GTP as an alternate phosphate donor. Moreover, exhibits a diphosphate kinase activity, producing ATP, CTP, GTP, UTP, TTP, dATP, dCTP and dGTP from the corresponding diphosphate substrates with either ATP or GTP as phosphate donors. For this activity shows the following substrate preference CDP > UDP > ADP > TDP., [UniProtKB, PubMed]; Deficiency in AK9 causes asthenozoospermia and male infertility by destabilising sperm nucleotide homeostasis. Erratum:[EBioMedicine. 2024 Jan;99:104957. doi: 10.1016/j.ebiom.2023.104957. PMID: 38171079], [RefSeq, PubMed]; Integrative analyses of N6-methyladenosine-associated single-nucleotide polymorphisms (m6A-SNPs) identify tumor suppressor gene AK9 in lung cancer., [RefSeq, PubMed]; The protein encoded by this gene catalyzes the interconversion of nucleosides, possessing both nucleoside monophosphate and diphosphate kinase activities. The encoded protein uses these interconversions to maintain nucleoside homeostasis. [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": 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": 41, "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": "A6NL75;B2RDJ0;B6ZDM7;Q3MIS4;Q5I0W8;Q6ZNF1;Q6ZVR7;Q8N7C6;Q8WW00;Q96NF4", "ec_number_list": "2.7.4.10;2.7.4.6;2.7.4.3;2.7.4.4;3.1.11.-;2.7.11.1;2.7.13.3;2.7.4.18;3.1.24.-;2.7.4.14", "go_molecular_function": "GO:0004017 AMP kinase activity;GO:0050145 nucleoside monophosphate kinase activity;GO:0005524 ATP binding;GO:0004550 nucleoside diphosphate kinase activity;GO:0033862 UMP kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0031514 motile cilium", "go_biological_process": "GO:0006225 UDP biosynthetic process;GO:0046705 CDP biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "Q5TCS8-4", "record_type": "protein" }, { "uniprot_canonical_ac": "Q68DU8-1", "uniprot_id": "KCD16_HUMAN", "mass": 49138.0, "length": 428, "protein_name": "BTB/POZ domain-containing protein KCTD16", "gene_name": "KCTD16", "organism": "Human", "refseq_name": "BTB/POZ domain-containing protein KCTD16", "refseq_ac": "NP_065819", "gene_names_uniprotkb": "KCTD16; KIAA1317", "gene_names_refseq": "KCTD16", "protein_names_uniprotkb": "BTB/POZ domain-containing protein KCTD16; Potassium channel tetramerization domain-containing protein 16", "protein_names_refseq": "BTB/POZ domain-containing protein KCTD16; potassium channel tetramerisation domain containing 16; potassium channel tetramerization domain-containing protein 16", "tax_id": 9606, "disease": "", "pathway": " (hsa:57528)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "20068231;28228285;28411811;28963344;29393594;29557506;30315122;30971491;31844290;32357974;32387766;35580925;37938771", "class_list": "", "function": "Auxiliary subunit of GABA-B receptors that determine the pharmacology and kinetics of the receptor response. Increases agonist potency and markedly alter the G protein signaling of the receptors by accelerating onset and promoting desensitization (By similarity)., [UniProtKB, UniProtKB]; Investigated structure/interaction of GABAB receptors and potassium channel tetramerization domain containing 16 (KCTD16). Found that mutating certain conserved KCTD16 interfacial residues disrupted modulation of GABAB receptors, suggesting a common mode of KCTD interaction with GABAB receptors., [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": 11, "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": "Q9P2M9", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0043235 receptor complex;GO:0045211 postsynaptic membrane;GO:0042734 presynaptic membrane", "go_biological_process": "GO:0051260 protein homooligomerization;GO:0008277 regulation of G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q68DU8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86T24-1", "uniprot_id": "KAISO_HUMAN", "mass": 74484.0, "length": 672, "protein_name": "Transcriptional regulator Kaiso", "gene_name": "ZBTB33", "organism": "Human", "refseq_name": "transcriptional regulator Kaiso", "refseq_ac": "NP_001171671", "gene_names_uniprotkb": "ZBTB33; KAISO; ZNF348", "gene_names_refseq": "ZBTB33; ZNF-kaiso; ZNF348", "protein_names_uniprotkb": "Transcriptional regulator Kaiso; Zinc finger and BTB domain-containing protein 33", "protein_names_refseq": "WUGSC:H_DJ525N14.1; kaiso transcription factor; transcriptional regulator Kaiso; zinc finger and BTB domain-containing protein 33", "tax_id": 9606, "disease": "", "pathway": " (hsa:10009); (R-HSA-9764725)", "pathway_count": 2, "publication_count": 106, "publication_id_list": "10207085;10655587;11445535;11912130;12700765;14527417;14699141;15542832;15548582;15564377;15592455;15781635;15817151;16354688;17130829;19413330;20418909;20871592;22009320;22158034;22424782;23186163;23251453;23466526;23481700;24715725;25218447;25576301;25645385;25728771;25892735;26154972;26212009;26992070;27600516;27862975;27920218;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29437277;29508533;29557506;29632046;29632711;29729076;30315122;30379171;30429286;30524438;30620550;30779550;30833945;30898548;31092671;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32352758;32357974;32387766;32488085;32502341;32897882;32938616;32938750;32983136;33141586;33214551;33298915;33592498;33608512;33691108;33912179;33936100;33968037;34019948;34087483;34171305;34405274;34509645;35008676;35051231;35138000;35138101;35254053;35292107;35580925;35851744;36010968;36115941;36241641;36284347;37541260;37938771;39302247;39531497;40307207", "class_list": "", "function": "A Conformational Switch in the Zinc Finger Protein Kaiso Mediates Differential Readout of Specific and Methylated DNA Sequences., [RefSeq, PubMed]; Differential expression of p120(ctn) and Kaiso mRNA was observed in human coronary artery endothelial cells depending on how laminar shear stress was applied in relation to the wounding process, [RefSeq, PubMed]; Expressional variations of Kaiso: an association with pathological characteristics and field cancerization of OSCC. Publication Status: Online-Only, [RefSeq, PubMed]; Kaiso phosphorylation at threonine 606 leads to its accumulation in the cytoplasm, reducing its transcriptional repression of the tumour suppressor CDH1., [RefSeq, PubMed]; This gene encodes a transcriptional regulator with bimodal DNA-binding specificity, which binds to methylated CGCG and also to the non-methylated consensus KAISO-binding site TCCTGCNA. The protein contains an N-terminal POZ/BTB domain and 3 C-terminal zinc finger motifs. It recruits the N-CoR repressor complex to promote histone deacetylation and the formation of repressive chromatin structures in target gene promoters. It may contribute to the repression of target genes of the Wnt signaling pathway, and may also activate transcription of a subset of target genes by the recruitment of catenin delta-2 (CTNND2). Its interaction with catenin delta-1 (CTNND1) inhibits binding to both methylated and non-methylated DNA. It also interacts directly with the nuclear import receptor Importin-alpha2 (also known as karyopherin alpha2 or RAG cohort 1), which may mediate nuclear import of this protein. Alternatively spliced transcript variants encoding the same protein have been identified.[provided by RefSeq, May 2010]., [RefSeq]; Transcriptional regulator with bimodal DNA-binding specificity. Binds to methylated CpG dinucleotides in the consensus sequence 5'-CGCG-3' and also binds to the non-methylated consensus sequence 5'-CTGCNA-3' also known as the consensus kaiso binding site (KBS). Recruits the N-CoR repressor complex to promote histone deacetylation and the formation of repressive chromatin structures in target gene promoters. May contribute to the repression of target genes of the Wnt signaling pathway. May also activate transcription of a subset of target genes by the recruitment of CTNND2. Represses expression of MMP7 in conjunction with transcriptional corepressors CBFA2T3, CBFA2T2 and RUNX1T1 (PubMed:23251453)., [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": 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": 1, "reported_glycation": 0, "reported_snv": 16, "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": "B2R5U6;O00319;Q7Z361;Q8IVP6;Q8N3P0", "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:0008327 methyl-CpG binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0035556 intracellular signal transduction;GO:0045892 negative regulation of DNA-templated transcription;GO:0002682 regulation of immune system process", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "Q86T24-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IXL9-1", "uniprot_id": "IQCF2_HUMAN", "mass": 19627.0, "length": 164, "protein_name": "IQ domain-containing protein F2", "gene_name": "IQCF2", "organism": "Human", "refseq_name": "IQ domain-containing protein F2", "refseq_ac": "NP_982248", "gene_names_uniprotkb": "IQCF2", "gene_names_refseq": "IQCF2", "protein_names_uniprotkb": "IQ domain-containing protein F2", "protein_names_refseq": "IQ domain-containing protein F2", "tax_id": 9606, "disease": "", "pathway": " (hsa:389123)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "29557506;32350084;35251023", "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": 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": "", "ec_number_list": "", "go_molecular_function": "GO:0005516 calmodulin binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q8IXL9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N752-1", "uniprot_id": "KC1AL_HUMAN", "mass": 39086.0, "length": 337, "protein_name": "Casein kinase I isoform alpha-like", "gene_name": "CSNK1A1L", "organism": "Human", "refseq_name": "casein kinase I isoform alpha-like", "refseq_ac": "NP_660204", "gene_names_uniprotkb": "CSNK1A1L", "gene_names_refseq": "CK1; CSNK1A1L", "protein_names_uniprotkb": "Casein kinase I isoform alpha-like; 2.7.11.1; CK1; CKI-alpha-like", "protein_names_refseq": "CKI-alpha-like; casein kinase I alpha S-like; casein kinase I isoform alpha-like", "tax_id": 9606, "disease": "syndromic X-linked intellectual disability Najm type (Disease Ontology:DOID:0060807)", "pathway": " (hsa:122011)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "16959974;17344846;22424782;27397612;28904123;29242379;29557506;32387766;33392160;33592498;34357683;34561969;35051231;35580925;37257767", "class_list": "", "function": "Casein kinase 1 controls the shuttling of epidermal growth factor receptor and estrogen receptor in endometrial carcinoma induced by breast cancer hormonal therapy: Relevance of GPER1/Src., [RefSeq, PubMed]; Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling (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": 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": "Q5T2N2", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "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:0005737 cytoplasm", "go_biological_process": "GO:0007165 signal transduction;GO:0090090 negative regulation of canonical Wnt signaling pathway;GO:0016055 Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q8N752-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TD94-1", "uniprot_id": "KLF14_HUMAN", "mass": 33094.0, "length": 323, "protein_name": "Krueppel-like factor 14", "gene_name": "KLF14", "organism": "Human", "refseq_name": "Krueppel-like factor 14", "refseq_ac": "NP_619638", "gene_names_uniprotkb": "KLF14; BTEB5", "gene_names_refseq": "BTEB5; KLF14", "protein_names_uniprotkb": "Krueppel-like factor 14; BTE-binding protein 5; Basic transcription element-binding protein 5; Transcription factor BTEB5", "protein_names_refseq": "BTE-binding protein 5; Krueppel-like factor 14; Kruppel like factor 14; basic transcription element-binding protein 5; transcription factor BTEB5", "tax_id": 9606, "disease": "", "pathway": " (hsa:136259)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "17480121;19088080;19936222;23481700;29242379;29557506;31844290;32357974;36752341;37351102;38031795;38143751;39390559", "class_list": "", "function": "Biochemical association of regulatory variant of KLF14 genotype in the pathogenesis of cardiodiabetic patients. Publication Status: Online-Only, [RefSeq, PubMed]; KLF14 activates the JNK-signaling pathway to induce S-phase arrest in cervical cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; KLF14 directly downregulates the expression of GPX4 to exert antitumor effects by promoting ferroptosis in cervical cancer. Publication Status: Online-Only, [RefSeq, PubMed]; KLF14 gene is imprinted, with preferential expression from the maternal allele., [RefSeq, PubMed]; KLF14/miR-1283/TFAP2C axis inhibits HER2-positive breast cancer progression via declining tumor cell proliferation., [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Potential Association of The Pathogenic Kruppel-like Factor 14 (KLF14) and Adiponectin (ADIPOQ) SNVs with Susceptibility to T2DM., [RefSeq, PubMed]; The TGFbeta pathway activation leads to recruitment of a KLF14-mSin3A-HDAC2 repressor complex to the TGFbetaRII promoter, as well as the remodeling of chromatin to increase histone marks that associate with transcriptional silencing., [RefSeq, PubMed]; This intronless gene encodes a member of the Kruppel-like family of transcription factors. The encoded protein functions as a transcriptional co-repressor, and is induced by transforming growth factor-beta (TGF-beta) to repress TGF-beta receptor II gene expression. This gene exhibits imprinted expression from the maternal allele in embryonic and extra-embryonic tissues. [provided by RefSeq, Jul 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "A0A075B756;A4D1N0;Q19A42;Q19A43", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding;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:0043565 sequence-specific DNA binding", "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:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q8TD94-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96CX2-1", "uniprot_id": "KCD12_HUMAN", "mass": 35701.0, "length": 325, "protein_name": "BTB/POZ domain-containing protein KCTD12", "gene_name": "KCTD12", "organism": "Human", "refseq_name": "BTB/POZ domain-containing protein KCTD12", "refseq_ac": "NP_612453", "gene_names_uniprotkb": "KCTD12; C13orf2; KIAA1778; PFET1", "gene_names_refseq": "C13orf2; KCTD12; PFET1; PFETIN", "protein_names_uniprotkb": "BTB/POZ domain-containing protein KCTD12; Pfetin; Predominantly fetal expressed T1 domain", "protein_names_refseq": "BTB/POZ domain-containing protein KCTD12; potassium channel tetramerisation domain containing 12; predominantly fetal expressed T1 domain; testicular tissue protein Li 100", "tax_id": 9606, "disease": "", "pathway": " (hsa:115207)", "pathway_count": 1, "publication_count": 55, "publication_id_list": "15345747;15357420;17081983;17287340;17525332;18210030;18347171;18452278;18578522;18669648;19336475;19413330;19651622;20068231;20166139;20400944;23301498;23481700;24275569;25418920;25880248;26929215;27920218;28063628;28869606;28904123;29393594;29493099;29557506;29632046;29769354;29786170;30315122;30410026;30429286;30779550;30886212;31154438;31530632;31844290;31848261;32161166;32265295;32357974;32387766;32938616;32961112;33043033;33298915;33968037;34185709;34561969;35580925;37217939;37626178", "class_list": "", "function": "A pan-cancer analysis of potassium channel tetramerization domain containing 12 in human cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Association of KCTD12 gene and miR-383-binding genes with rumination Publication Status: Online-Only, [RefSeq, PubMed]; Auxiliary subunit of GABA-B receptors that determine the pharmacology and kinetics of the receptor response. Increases agonist potency and markedly alter the G protein signaling of the receptors by accelerating onset and promoting desensitization (By similarity)., [UniProtKB]; Bayesian Genome-wide TWAS Method to Leverage both cis- and trans-eQTL Information through Summary Statistics., [RefSeq, PubMed]; Novel human gene, designated PFET1 (predominantly fetal expressed T1 domain) present in a variety of fetal organs, with highest expression levels in the cochlea and brain, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Pfetin is a powerful prognostic marker for gastrointestinal stromal tumors., [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": 14, "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:0042802 identical protein binding", "go_cellular_component": "GO:0043235 receptor complex;GO:0045211 postsynaptic membrane;GO:0042734 presynaptic membrane", "go_biological_process": "GO:0051260 protein homooligomerization;GO:0008277 regulation of G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q96CX2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96NX5-1", "uniprot_id": "KCC1G_HUMAN", "mass": 53087.0, "length": 476, "protein_name": "Calcium/calmodulin-dependent protein kinase type 1G", "gene_name": "CAMK1G", "organism": "Human", "refseq_name": "calcium/calmodulin-dependent protein kinase type 1G", "refseq_ac": "NP_065172", "gene_names_uniprotkb": "CAMK1G; CLICK3; VWS1", "gene_names_refseq": "CAMK1G; CLICK3; CLICKIII; VWS1", "protein_names_uniprotkb": "Calcium/calmodulin-dependent protein kinase type 1G; 2.7.11.17; CLICK III; CaM kinase I gamma; CaM kinase IG; CaM-KI gamma; CaMK-like CREB kinase III; CaMKI gamma; CaMKIG", "protein_names_refseq": "caM kinase I gamma; caM kinase IG; caM-KI gamma; caMK-like CREB kinase III; caMKI gamma; caMKIG; calcium/calmodulin-dependent protein kinase type 1G", "tax_id": 9606, "disease": "", "pathway": " (hsa:57172)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "10645953;11237011;12637513;17344846;19913121;20628086;20729199;23624525;25677198;34087483;34171305;35051231", "class_list": "", "function": "CLICK-III/CaMKIgamma is a novel membrane-anchored neuronal Ca2+/calmodulin-dependent protein kinase (CaMK)., [RefSeq, PubMed]; Calcium/calmodulin-dependent protein kinase belonging to a proposed calcium-triggered signaling cascade. In vitro phosphorylates transcription factor CREB1 (By similarity)., [UniProtKB]; Calmodulin suppresses synaptotagmin-2 transcription in cortical neurons, [RefSeq, PubMed]; No evidence of association between polymorphisms in CAMK1G and sporadic amyotrophic lateral sclerosis in Han Chinese, [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]; Two new susceptibility loci for amyotrophic lateral sclerosis in the Han Chinese population in chromosome 1, CAMK1G and chromosome 22, SUSD2 and CABIN1., [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": "Q86UH5;Q9Y3J7", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0005516 calmodulin binding;GO:0005524 ATP binding;GO:0004683 calcium/calmodulin-dependent protein kinase activity;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005954 calcium- and calmodulin-dependent protein kinase complex", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q96NX5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UBP8-1", "uniprot_id": "KAAG1_HUMAN", "mass": 8969.0, "length": 84, "protein_name": "Kidney-associated antigen 1", "gene_name": "KAAG1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "KAAG1; RU2AS", "gene_names_refseq": "", "protein_names_uniprotkb": "Kidney-associated antigen 1; RU2 antisense gene protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "10601354", "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": "GO:0006955 immune response", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q9UBP8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UNX9-1", "uniprot_id": "KCJ14_HUMAN", "mass": 47846.0, "length": 436, "protein_name": "ATP-sensitive inward rectifier potassium channel 14", "gene_name": "KCNJ14", "organism": "Human", "refseq_name": "ATP-sensitive inward rectifier potassium channel 14", "refseq_ac": "NP_037480", "gene_names_uniprotkb": "KCNJ14; IRK4", "gene_names_refseq": "IRK4; KCNJ14; KIR2.4", "protein_names_uniprotkb": "ATP-sensitive inward rectifier potassium channel 14; IRK-4; Inward rectifier K(+) channel Kir2.4; Potassium channel, inwardly rectifying subfamily J member 14", "protein_names_refseq": "ATP-sensitive inward rectifier potassium channel 14; inward rectifier K(+) channel Kir2.4; inwardly rectifying potassium channel KIR2.4; potassium channel, inwardly rectifying subfamily J member 14; potassium voltage-gated channel subfamily J member 14", "tax_id": 9606, "disease": "EAST syndrome (Disease Ontology:DOID:0060484)", "pathway": " (hsa:3770); (R-HSA-1296053); (R-HSA-5576886)", "pathway_count": 3, "publication_count": 15, "publication_id_list": "10723734;10942728;15795311;15958527;16382106;17347781;17652773;20393194;20424473;29557506;31154438;33968037;35051231;36100894;36768373", "class_list": "", "function": "Comprehensive Analysis of KCNJ14 Potassium Channel as a Biomarker for Cancer Progression and Development. Publication Status: Online-Only, [RefSeq, PubMed]; Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages., [UniProtKB, PubMed]; KCNJ14 knockdown significantly inhibited the proliferation and migration of colorectal cells. Publication Status: Online-Only, [RefSeq, PubMed]; Kir2.2 and Kir2.1 are primary determinants of endogenous K(+) conductance in HAECs under resting conditions and that Kir2.2 provides the dominant conductance in these cells., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel, and probably has a role in controlling the excitability of motor neurons. [provided by RefSeq, Feb 2013]., [RefSeq]; Using patch-clamp techniques, we characterized K(IR) channels in cultured pulmonary artery smooth muscle cells and compared them to cloned Kir2.1 and Kir2.4 channels, [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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "1.8.-.-", "go_molecular_function": "GO:0005242 inward rectifier potassium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0008076 voltage-gated potassium channel complex", "go_biological_process": "GO:1990573 potassium ion import across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q9UNX9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O76009-1", "uniprot_id": "KT33A_HUMAN", "mass": 45940.0, "length": 404, "protein_name": "Keratin, type I cuticular Ha3-I", "gene_name": "KRT33A", "organism": "Human", "refseq_name": "keratin, type I cuticular Ha3-I", "refseq_ac": "NP_004129", "gene_names_uniprotkb": "KRT33A; HHA3-I; HKA3A; KRTHA3A", "gene_names_refseq": "HA3I; Ha-3I; K33A; KRT33A; KRTHA3A; Krt1-3; hHa3-I", "protein_names_uniprotkb": "Keratin, type I cuticular Ha3-I; Hair keratin, type I Ha3-I; K33A; Keratin-33A", "protein_names_refseq": "hair keratin, type I Ha3-I; hard keratin, type I,3I; keratin 33A, type I; keratin, hair, acidic, 3A; keratin, type I cuticular Ha3-I", "tax_id": 9606, "disease": "", "pathway": " (hsa:3883); (R-HSA-6805567); (R-HSA-6809371)", "pathway_count": 3, "publication_count": 52, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11350120;11380615;11590230;12902340;15033990;15337775;15373777;15617563;15797384;15803139;16061697;16382671;16639001;1691188;1694855;1714783;17515931;17521629;17562024;17596512;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23481192;23629652;2414304;25208914;25926655;26390218;35051231;37074911;38665916;7543090;8824274;8999895;9395522;9468612;9565599;9756910", "class_list": "", "function": "This gene encodes a member of the keratin gene family. This gene is one of multiple type I hair keratin genes that are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. As a type I hair keratin, the encoded protein is an acidic protein which heterodimerizes with type II keratins to form hair and nails. There are two isoforms of this protein, encoded by two separate genes, keratin 33A and keratin 33B. [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": 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": 27, "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": "B2RA87;Q6NTB9;Q6ZZB9", "ec_number_list": "", "go_molecular_function": "GO:0030280 structural constituent of skin epidermis", "go_cellular_component": "GO:0005615 extracellular space;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0045095 keratin filament", "go_biological_process": "GO:0030855 epithelial cell differentiation;GO:0045109 intermediate filament organization;GO:0002009 morphogenesis of an epithelium", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "O76009-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P25391-1", "uniprot_id": "LAMA1_HUMAN", "mass": 337084.0, "length": 3075, "protein_name": "Laminin subunit alpha-1", "gene_name": "LAMA1", "organism": "Human", "refseq_name": "laminin subunit alpha-1 precursor", "refseq_ac": "NP_005550", "gene_names_uniprotkb": "LAMA1; LAMA", "gene_names_refseq": "LAMA1; LAMA; PTBHS; S-LAM-alpha", "protein_names_uniprotkb": "Laminin subunit alpha-1; Laminin A chain; Laminin-1 subunit alpha; Laminin-3 subunit alpha; S-LAM alpha; S-laminin subunit alpha", "protein_names_refseq": "S-LAM alpha; S-laminin subunit alpha; laminin A chain; laminin subunit alpha-1 precursor; laminin, alpha 1; laminin-3 subunit alpha", "tax_id": 9606, "disease": "muscular dystrophy (Disease Ontology:DOID:9884); ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome (MONDO:MONDO:0014419)", "pathway": " (hsa:284217); (R-HSA-3000157); (R-HSA-3000171); (R-HSA-3000178); (R-HSA-373760); (R-HSA-8874081); (R-HSA-9638630); (R-HSA-9913351); (R-HSA-9925563)", "pathway_count": 9, "publication_count": 146, "publication_id_list": "10.1101/2023.09.13.557529;10022829;10189375;10339611;10441321;10521801;10545507;10673326;10893187;10932245;10942431;11054877;11084047;11259413;11352924;11430802;11495720;11739641;11847221;11964076;12189167;12225811;12237301;1319059;1376317;14715956;14978216;15075323;15175026;15296743;1544908;16000162;16293224;16413178;16493581;16524571;16581764;16782899;16806867;17081983;1714537;17574028;17588949;17905726;18764929;19159218;19346169;19946898;20044576;20068231;2049067;2059554;20802513;21152083;21642437;21789315;22134916;22159078;22223806;22493504;23090970;2364322;2412224;24190977;2420006;2430969;24480479;25105227;25171405;25892735;2733383;28228285;29393594;29557506;29741879;29769354;30192525;30315122;31092671;31154438;31217245;31844290;32157095;32161166;32488085;3282674;32938616;32983136;33141586;33513766;34019948;34087483;34226522;35051231;35580925;35616092;36010968;36215666;37074911;37217939;37938771;3997977;6193777;6439184;7499434;7509446;7527058;7527495;7542669;7547961;7559467;7592992;7685013;7693733;7844150;7852349;7925941;8002934;8043271;8054685;8268918;8349731;8440685;8576247;8607994;8627307;8798547;8798654;8845841;8943283;9214383;9245798;9252349;9294172;9341124;9346959;9405466;9412493;9417118;9645947;9652404;9659899;9659900;9685393;9864373;9949188", "class_list": "", "function": "Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. As a ligand for alpha-dystroglycan, it is involved in a number of processes including epithelium branching morphogenesis, down-regulation of apoptotic signals in muscle via the activation of PI3K/AKT signaling, and activation of RAC1 signaling. As a subunit of laminin-1 (also known as laminin-111 or EHS laminin), it is involved in the stimulation of agrin-induced receptor clustering through a MuSK-independent pathway., [UniProtKB, UniProtKB]; Circular RNA hsa_circ_0000277 sequesters miR-4766-5p to upregulate LAMA1 and promote esophageal carcinoma progression. Publication Status: Online-Only, [RefSeq, PubMed]; Spermatogonia Loss Correlates with LAMA 1 Expression in Human Prepubertal Testes Stored for Fertility Preservation. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes one of the alpha 1 subunits of laminin. The laminins are a family of extracellular matrix glycoproteins that have a heterotrimeric structure consisting of an alpha, beta and gamma chain. These proteins make up a major component of the basement membrane and have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Mutations in this gene may be associated with Poretti-Boltshauser syndrome. [provided by RefSeq, Sep 2014]., [RefSeq]; Variability of retinopathy consequent upon novel mutations in LAMA1., [RefSeq, PubMed]", "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": 7, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 19, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 19, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 19, "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": 178, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 74, "disease_count": 2, "glyco_site_count": 24, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0043208 glycosphingolipid binding;GO:0048018 receptor ligand activity;GO:0005201 extracellular matrix structural constituent", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0016020 membrane", "go_biological_process": "GO:1904395 positive regulation of skeletal muscle acetylcholine-gated channel clustering;GO:0007155 cell adhesion;GO:0007165 signal transduction;GO:0007166 cell surface receptor signaling pathway;GO:0007399 nervous system development", "synthesized_glycan_count": 0, "hit_score": 24.1, "record_id": "P25391-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P49862-1", "uniprot_id": "KLK7_HUMAN", "mass": 27525.0, "length": 253, "protein_name": "Kallikrein-7", "gene_name": "KLK7", "organism": "Human", "refseq_name": "kallikrein-7 isoform 2", "refseq_ac": "NP_001193982", "gene_names_uniprotkb": "KLK7; PRSS6; SCCE", "gene_names_refseq": "KLK7; PRSS6; SCCE; hK7", "protein_names_uniprotkb": "Kallikrein-7; 3.4.21.117; Serine protease 6; Stratum corneum chymotryptic enzyme; hK7; hSCCE", "protein_names_refseq": "kallikrein 7 (chymotryptic, stratum corneum); kallikrein-7 isoform 2; kallikrein-7; serine protease 6; signal protein; stratum corneum chymotryptic enzyme", "tax_id": 9606, "disease": "", "pathway": " (hsa:5650); (R-HSA-1474228); (R-HSA-9725554)", "pathway_count": 3, "publication_count": 82, "publication_id_list": "10229672;10386589;10706100;10809722;10974542;10986281;11054574;11237011;11375993;11872628;11874483;12067728;12624109;12727852;12738725;12843408;14973287;15140226;15191543;15234001;15234972;15556625;15591058;15675955;15780751;15958533;16133547;16297201;1649600;16631740;16825321;1698775;1707285;17330888;17332331;17354228;17608959;17909180;18329042;18434311;18658137;19010778;19571574;19657146;19714641;19924134;20068231;20142769;21030783;21297635;21441952;21670566;21784848;21864727;22159414;22735594;23035980;23283814;23370777;23629652;23845380;24794495;26340985;29557506;30397120;30905808;31399284;33588911;34087483;34525904;38189409;7075587;7547873;7794273;8034709;8226919;8626565;9065415;9115292;9148753;9461298;9852107", "class_list": "", "function": "High expression of KLK7 transcript with a long 3'-untranslated region is associated with ovarian cancer, [RefSeq, PubMed]; Identification of MFGE8 and KLK5/7 as mediators of breast tumorigenesis and resistance to COX-2 inhibition. Publication Status: Online-Only, [RefSeq, PubMed]; Increase of KLK7, cytokeratin 5/6, and elafin expression in head and neck squamous cell carcinoma compared with lung squamous cell carcinoma., [RefSeq, PubMed]; May catalyze the degradation of intercellular cohesive structures in the cornified layer of the skin in the continuous shedding of cells from the skin surface. Specific for amino acid residues with aromatic side chains in the P1 position. Cleaves insulin A chain at '14-Tyr-|-Gln-15' and insulin B chain at '6-Leu-|-Cys-7', '16-Tyr-|-Leu-17', '25-Phe-|-Tyr-26' and '26-Tyr-|-Thr-27'. Could play a role in the activation of precursors to inflammatory cytokines., [UniProtKB, PubMed]; The AACC insertion in the SCCE gene may result in a change to SCCE activity within the skin barrier so SCCE could have an important role in the development of atopic dermatitis. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The Role of Kallikrein 7 in Tumorigenesis. Review article, [RefSeq, PubMed]; This gene encodes a member of the kallikrein subfamily of serine proteases. These enzymes have diverse physiological functions and many kallikrein genes are biomarkers for cancer. The encoded protein has chymotrypsin-like activity and plays a role in the proteolysis of intercellular cohesive structures that precedes desquamation, the shedding of the outermost layer of the epidermis. The encoded protein may play a role in cancer invasion and metastasis, and increased expression of this gene is associated with unfavorable prognosis and progression of several types of cancer. Polymorphisms in this gene may play a role in the development of atopic dermatitis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, which is one of fifteen kallikrein subfamily members located in a gene cluster on chromosome 19. [provided by RefSeq, May 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": 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": 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": "A8K0U5;Q8N5N9;Q8NFV7", "ec_number_list": "3.4.24.35;3.4.22.-;3.4.21.4;3.4.21.117;3.4.21.-", "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0004252 serine-type endopeptidase activity;GO:0008233 peptidase activity;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0030141 secretory granule;GO:0097209 epidermal lamellar body", "go_biological_process": "GO:0006508 proteolysis;GO:0022617 extracellular matrix disassembly;GO:0008544 epidermis development;GO:0051604 protein maturation;GO:0002780 antibacterial peptide biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "P49862-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q2TBA0-1", "uniprot_id": "KLH40_HUMAN", "mass": 69257.0, "length": 621, "protein_name": "Kelch-like protein 40", "gene_name": "KLHL40", "organism": "Human", "refseq_name": "kelch-like protein 40", "refseq_ac": "NP_689606", "gene_names_uniprotkb": "KLHL40; KBTBD5; SRYP", "gene_names_refseq": "KBTBD5; KLHL40; NEM8; SRYP; SYRP", "protein_names_uniprotkb": "Kelch-like protein 40; Kelch repeat and BTB domain-containing protein 5; Sarcosynapsin", "protein_names_refseq": "kelch repeat and BTB (POZ) domain containing 5; kelch repeat and BTB domain-containing protein 5; kelch-like protein 40; nemaline myopathy type 8; sarcosynapsin", "tax_id": 9606, "disease": "nemaline myopathy 8 (Disease Ontology:DOID:0110930)", "pathway": " (hsa:131377)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "23349464;23746549;24960163;26754003;27528495;27762439;32352246;33978323;35051231;35379254;36010968", "class_list": "", "function": "A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8., [RefSeq, PubMed]; Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8. Publication Status: Online-Only, [RefSeq, PubMed]; KLHL40 mutations as a frequent cause of severe autosomal-recessive nemaline myopathy. It plays a key role in muscle development and function., [RefSeq, PubMed]; NEB and LMOD3 were reduced in skeletal muscle of KLHL40-deficient patients, providing a potential basis for the development of nemaline myopathy., [RefSeq, PubMed]; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a key regulator of skeletal muscle development (PubMed:23746549). The BCR(KLHL40) complex acts by mediating ubiquitination and degradation of TFDP1, thereby regulating the activity of the E2F:DP transcription factor complex (By similarity). Promotes stabilization of LMOD3 by acting as a negative regulator of LMOD3 ubiquitination; the molecular process by which it negatively regulates ubiquitination of LMOD3 is however unclear (By similarity)., [UniProtKB, PubMed, UniProtKB]; The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes., [RefSeq, PubMed]; This gene encodes a protein containing a BACK domain, a BTB/POZ domain, and 5 Kelch repeats, however, its exact function is not known. The gene and the multi-domain protein structure are conserved across different taxa, including primates, rodents, chicken and zebrafish. [provided by RefSeq, Dec 2012]., [RefSeq]; Two compound heterozygous mutations; c.602G > A(p.W201*) and c.1516A > C(p.T506P), in the Kelch-like 40 (KLHL40) gene were discovered in a family with 3 fetuses affected by fetal akinesia deformation sequence., [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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q86SI1;Q96MR2", "ec_number_list": "", "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0031674 I band;GO:0031672 A band;GO:0031463 Cul3-RING ubiquitin ligase complex", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0048741 skeletal muscle fiber development;GO:0031398 positive regulation of protein ubiquitination;GO:0031397 negative regulation of protein ubiquitination;GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q2TBA0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6JVE9-1", "uniprot_id": "LCN8_HUMAN", "mass": 19080.0, "length": 175, "protein_name": "Epididymal-specific lipocalin-8", "gene_name": "LCN8", "organism": "Human", "refseq_name": "epididymal-specific lipocalin-8 isoform 1 precursor", "refseq_ac": "NP_001332863", "gene_names_uniprotkb": "LCN8; LCN5", "gene_names_refseq": "EP17; LCN5; LCN8", "protein_names_uniprotkb": "Epididymal-specific lipocalin-8", "protein_names_refseq": "epididymal-specific lipocalin-8 isoform 1 precursor; epididymal-specific lipocalin-8; epididymis secretory sperm binding protein; lipocalin 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:138307)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "15363845;28832583;31844290;32938616", "class_list": "", "function": "May play a role in male fertility. May act as a retinoid carrier protein within the epididymis., [UniProtKB]; Members of the lipocalin family, such as LCN8, have a common structure consisting of an 8-stranded antiparallel beta-barrel that forms a cup-shaped ligand-binding pocket or calyx. Lipocalins generally bind small hydrophobic ligands and transport them to specific cells (Suzuki et al., 2004 [PubMed 15363845]).[supplied by OMIM, Aug 2009]., [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": 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": "A1L4A8;A6NMN9;Q5T5R4", "ec_number_list": "", "go_molecular_function": "GO:0036094 small molecule binding", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q6JVE9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZMR3-1", "uniprot_id": "LDH6A_HUMAN", "mass": 36507.0, "length": 332, "protein_name": "L-lactate dehydrogenase A-like 6A", "gene_name": "LDHAL6A", "organism": "Human", "refseq_name": "L-lactate dehydrogenase A-like 6A", "refseq_ac": "NP_001137543", "gene_names_uniprotkb": "LDHAL6A; LDHL2", "gene_names_refseq": "LDH6A; LDHAL6A", "protein_names_uniprotkb": "L-lactate dehydrogenase A-like 6A; 1.1.1.27; LDHA-like protein 6A", "protein_names_refseq": "L-lactate dehydrogenase A-like 6A; LDHA-like protein 6A", "tax_id": 9606, "disease": "disease of metabolism (Disease Ontology:DOID:0014667)", "pathway": " (hsa:160287); (R-HSA-70268)", "pathway_count": 2, "publication_count": 50, "publication_id_list": "11276087;11377399;11863375;11945601;12121650;12962632;14596586;15551868;15870898;18351441;1931970;1935931;19679512;1993674;1996957;21156174;22628558;23284632;2440048;24998673;25202825;25575590;25576301;25594249;26992070;27166188;27317664;28467828;28834231;29242379;29314611;29472561;30315122;30484775;31020640;32403431;32502341;33043033;33064660;33141586;3435492;35051231;36241641;36417180;4822737;7757881;7818469;8726225;9119391;9705294", "class_list": "", "function": "Catalyzes the interconversion of L-lactate and pyruvate with nicotinamide adenine dinucleotide NAD(+) as a coenzyme (PubMed:18351441). Significantly increases the transcriptional activity of JUN, when overexpressed., [UniProtKB, PubMed]; Expression of LDHAL6A was able to activate transcriptional activities of AP1(PMA), [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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DQY5", "ec_number_list": "1.1.1.27", "go_molecular_function": "GO:0004459 L-lactate dehydrogenase (NAD+) activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006089 lactate metabolic process;GO:0042867 pyruvate catabolic process", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q6ZMR3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZST4-1", "uniprot_id": "LCNL1_HUMAN", "mass": 17784.0, "length": 164, "protein_name": "Lipocalin-like 1 protein", "gene_name": "LCNL1", "organism": "Human", "refseq_name": "lipocalin-like 1 protein", "refseq_ac": "NP_997393", "gene_names_uniprotkb": "LCNL1", "gene_names_refseq": "LCNL1", "protein_names_uniprotkb": "Lipocalin-like 1 protein", "protein_names_refseq": "lipocalin-like 1 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:401562)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "26758079", "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:0036094 small molecule binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q6ZST4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z4W3-1", "uniprot_id": "KR193_HUMAN", "mass": 8247.0, "length": 81, "protein_name": "Keratin-associated protein 19-3", "gene_name": "KRTAP19-3", "organism": "Human", "refseq_name": "keratin-associated protein 19-3", "refseq_ac": "NP_853640", "gene_names_uniprotkb": "KRTAP19-3; KAP19.3", "gene_names_refseq": "GTRHP; KAP19.3; KRTAP19-3", "protein_names_uniprotkb": "Keratin-associated protein 19-3; GTHRP; Glycine/tyrosine-rich protein", "protein_names_refseq": "GTHRP; glycine/tyrosine-rich protein; keratin-associated protein 19-3", "tax_id": 9606, "disease": "", "pathway": " (hsa:337970); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 11, "publication_id_list": "15373777;16382671;1691188;1694855;1714783;17521629;23481192;2414304;25208914;35580925;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": 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_cellular_component": "GO:0005829 cytosol;GO:0005882 intermediate filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q7Z4W3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86U70-1", "uniprot_id": "LDB1_HUMAN", "mass": 46533.0, "length": 411, "protein_name": "LIM domain-binding protein 1", "gene_name": "LDB1", "organism": "Human", "refseq_name": "LIM domain-binding protein 1 isoform 1", "refseq_ac": "NP_001106878", "gene_names_uniprotkb": "LDB1; CLIM2", "gene_names_refseq": "CLIM-2; CLIM2; LDB-1; LDB1; NLI", "protein_names_uniprotkb": "LIM domain-binding protein 1; CLIM-2; Carboxyl-terminal LIM domain-binding protein 2; LDB-1; LIM domain-binding factor CLIM2; Nuclear LIM interactor; hLdb1", "protein_names_refseq": "LIM domain-binding factor CLIM2; LIM domain-binding factor-1; LIM domain-binding protein 1 isoform 1; LIM domain-binding protein 1; carboxy terminal LIM domain protein 2; carboxyl-terminal LIM domain-binding protein 2; nuclear LIM interactor", "tax_id": 9606, "disease": "nail-patella syndrome (Disease Ontology:DOID:9467)", "pathway": " (hsa:8861); (R-HSA-8939236); (R-HSA-9010553); (R-HSA-9733709); (R-HSA-9752946)", "pathway_count": 5, "publication_count": 77, "publication_id_list": "10083735;10640831;11237011;11847229;15095414;15678106;16815859;16959763;16959974;18280240;18701449;19117995;19479054;19706539;20112406;20570862;20887958;21076045;21571218;22012064;22897851;23186163;23217742;23746841;24715725;24800820;25043025;25187301;25242263;25394790;26783251;26992070;27137657;27515280;28228285;28832583;28834231;28904123;29242379;29557506;29632046;29636455;29769354;30379171;30484775;30620550;31217245;31844290;31974307;32066986;32157095;32417234;32938616;33054971;33592498;33912179;33968037;34019948;34087483;34171305;34561969;35254053;35289036;35513511;35580925;35705054;36010968;36241641;37573405;37938771;38665916;38695236;38838015;39531497;40307207;40596516;9799849", "class_list": "", "function": "An intricate regulatory circuit between FLI1 and GATA1/GATA2/LDB1/ERG dictates erythroid vs. megakaryocytic differentiation., [RefSeq, PubMed]; Binds to the LIM domain of a wide variety of LIM domain-containing transcription factors. May regulate the transcriptional activity of LIM-containing proteins by determining specific partner interactions. Plays a role in the development of interneurons and motor neurons in cooperation with LHX3 and ISL1. Acts synergistically with LHX1/LIM1 in axis formation and activation of gene expression. Acts with LMO2 in the regulation of red blood cell development, maintaining erythroid precursors in an immature state., [UniProtKB, UniProtKB]; LMO2 promotes the development of AML through interaction with transcription co-regulator LDB1. 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": 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": 4, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 16, "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": "B4DUC4;O75479;O96010;Q1EQX1;Q9UGM4", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0019899 enzyme binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0031252 cell leading edge;GO:0005667 transcription regulator complex;GO:0000785 chromatin", "go_biological_process": "GO:0051893 regulation of focal adhesion assembly;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0007399 nervous system development;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "Q86U70-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IXV7-1", "uniprot_id": "KLD8B_HUMAN", "mass": 37676.0, "length": 354, "protein_name": "Kelch domain-containing protein 8B", "gene_name": "KLHDC8B", "organism": "Human", "refseq_name": "kelch domain-containing protein 8B", "refseq_ac": "NP_775817", "gene_names_uniprotkb": "KLHDC8B; FP17659", "gene_names_refseq": "CHL; KLHDC8B", "protein_names_uniprotkb": "Kelch domain-containing protein 8B", "protein_names_refseq": "kelch domain-containing protein 8B", "tax_id": 9606, "disease": "Hodgkin's lymphoma (Disease Ontology:DOID:8567)", "pathway": " (hsa:200942)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "15498874;19706467;20107318;22988245;23713010;25576301;25645385;25892735;26374642;27862975;29242379;29557506;30429286;30833945;31844290;31848261;32157095;32938616;33592498;34171305;35051231;36284347", "class_list": "", "function": "Deficiency of KLHDC8B leads to binucleated cells, implicating its involvement in Reed-Sternberg cell formation, [RefSeq, PubMed]; Depletion of KLHDC8B through RNA interference leads to an increase in binucleated cells, implicating its reduced expression in the formation of classical Hodgkin lymphoma's signature Reed-Sternberg cell., [RefSeq, PubMed]; Involved in pinching off the separated nuclei at the cleavage furrow and in cytokinesis (PubMed:20107318). Required for mitotic integrity and maintenance of chromosomal stability. Protects cells against mitotic errors, centrosomal amplification, micronucleus formation and aneuploidy. Plays a key role of midbody function involving abscission of the daughter cells during cytokinesis and appropriate chromosomal and nuclear segregation into the daughter cells (PubMed:22988245, PubMed:23713010)., [UniProtKB, PubMed, PubMed, PubMed]; Kelch protein KLHDC8B guards against mitotic errors, centrosomal amplification, and chromosomal instability, [RefSeq, PubMed]; This gene encodes a protein which forms a distinct beta-propeller protein structure of kelch domains allowing for protein-protein interactions. Mutations in this gene have been associated with Hodgkin lymphoma. [provided by RefSeq, Sep 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": 0, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0045171 intercellular bridge;GO:0030496 midbody;GO:0110070 cellularization cleavage furrow", "go_biological_process": "GO:1902410 mitotic cytokinetic process;GO:0140014 mitotic nuclear division;GO:0098813 nuclear chromosome segregation", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q8IXV7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P15529-1", "uniprot_id": "MCP_HUMAN", "mass": 43747.0, "length": 392, "protein_name": "Membrane cofactor protein", "gene_name": "CD46", "organism": "Human", "refseq_name": "membrane cofactor protein isoform 1 precursor", "refseq_ac": "NP_002380", "gene_names_uniprotkb": "CD46; MCP; MIC10", "gene_names_refseq": "AHUS2; CD46; MCP; MIC10; TLX; TRA2.10", "protein_names_uniprotkb": "Membrane cofactor protein; TLX; Trophoblast leukocyte common antigen", "protein_names_refseq": "CD46 antigen, complement regulatory protein; CD46 molecule, complement regulatory protein; antigen identified by monoclonal antibody TRA-2-10; complement membrane cofactor protein; measles virus receptor; membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen); membrane cofactor protein isoform 1 precursor; trophoblast leucocyte common antigen; trophoblast leukocyte common antigen", "tax_id": 9606, "disease": "meningococcal meningitis (Disease Ontology:DOID:0080176); atypical hemolytic-uremic syndrome (Disease Ontology:DOID:0080301); acute necrotizing pancreatitis (Disease Ontology:DOID:0080998); pre-eclampsia (Disease Ontology:DOID:10591); age related macular degeneration (Disease Ontology:DOID:10871); hemolytic-uremic syndrome (Disease Ontology:DOID:12554); multiple sclerosis (Disease Ontology:DOID:2377); thrombophilia (Disease Ontology:DOID:2452); contact dermatitis (Disease Ontology:DOID:2773); breast carcinoma (Disease Ontology:DOID:3459); renal cell carcinoma (Disease Ontology:DOID:4450); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991); systemic lupus erythematosus (Disease Ontology:DOID:9074); viral infectious disease (Disease Ontology:DOID:934); bacterial meningitis (Disease Ontology:DOID:9470); multiple myeloma (Disease Ontology:DOID:9538); acute lymphoblastic leukemia (Disease Ontology:DOID:9952); atypical hemolytic-uremic syndrome with MCP/CD46 anomaly (MONDO:MONDO:0013040)", "pathway": " (hsa:4179); (R-HSA-977606)", "pathway_count": 2, "publication_count": 168, "publication_id_list": "10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10357804;10531307;10619434;10657632;1067618;10751138;10843656;10972291;11237011;11260136;11694537;11901164;11939578;11971006;12055245;12112588;12171934;12540904;12663806;12724329;12915534;1386357;14566051;14566335;14597734;14615110;1479546;15047806;15078926;15307194;15919905;1601037;16079145;16192651;16254377;16386793;16621965;16959974;16999828;1711570;1717583;17182573;17505110;20010840;2050389;20513133;21788512;22802338;2298462;23090970;23487775;24190977;2420889;2465906;2466593;2481448;25418920;25502872;25576301;25645385;25813380;25892735;26154972;26811146;26929215;28121444;28228285;28510447;28514659;28871256;28904123;29242379;29314611;29317506;293688;293746;29393594;29557506;2956252;29632046;2971659;29741879;29769354;29786170;301546;30315122;30429286;30779550;30833945;31092671;31154438;31844290;31848261;32157095;32161166;32265295;32350084;32357974;32581096;3260937;32897882;32938616;32983136;33214551;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34405274;35051231;35154160;35251023;35289036;35318648;35580925;36010968;36241641;36284347;37074911;37938771;38140538;3848661;38847230;39169872;40596516;4098172;6214588;6219696;6222381;6230668;6238120;6334079;6454142;6607952;670886;6906228;702059;7391570;7534417;7542572;760802;761607;7690834;7691939;7691959;7708671;7884872;8345200;8371352;8402913;8418811;8495193;8764003;8786315;9038722;9379894;9659228;9759896;978134", "class_list": "", "function": "(Microbial infection) A number of viral and bacterial pathogens seem to bind MCP in order to exploit its immune regulation property and directly induce an immunosuppressive phenotype in T-cells., [UniProtKB]; (Microbial infection) Acts as a receptor for Adenovirus subgroup B2 and Ad3., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; (Microbial infection) Acts as a receptor for Herpesvirus 6/HHV-6., [UniProtKB, PubMed, PubMed]; (Microbial infection) Acts as a receptor for cultured Measles virus., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; (Microbial infection) May act as a receptor for pathogenic bacteria Neisseria and Streptococcus pyogenes (PubMed:11260136, PubMed:11971006, PubMed:7708671, PubMed:9379894)., [UniProtKB]; (Microbial infection) Plays a minor role in fiber protein-mediated human adenovirus 55 infection; via its interaction with fiber protein (PubMed:32581096). Plays a minor role in fiber protein-mediated human adenovirus 14a infection (PubMed:32581096)., [UniProtKB, PubMed]; Acts as a cofactor for complement factor I, a serine protease which protects autologous cells against complement-mediated injury by cleaving C3b and C4b deposited on host tissue. May be involved in the fusion of the spermatozoa with the oocyte during fertilization. Also acts as a costimulatory factor for T-cells which induces the differentiation of CD4+ into T-regulatory 1 cells. T-regulatory 1 cells suppress immune responses by secreting interleukin-10, and therefore are thought to prevent autoimmunity., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Complement regulatory protein CD46 promotes bladder cancer metastasis through activation of MMP9., [RefSeq, PubMed]; Computational Analysis of CD46 Protein Interaction with SARS-CoV-2 Structural Proteins: Elucidating a Putative Viral Entry Mechanism into Human Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic architecture of epigenetic cortical clock age in brain tissue from older individuals: alterations in CD46 and other loci., [RefSeq, PubMed]; Mutations predispose to development of familial hemolytic uremic syndrome., [RefSeq, PubMed]; The protein encoded by this gene is a type I membrane protein and is a regulatory part of the complement system. The encoded protein has cofactor activity for inactivation of complement components C3b and C4b by serum factor I, which protects the host cell from damage by complement. In addition, the encoded protein can act as a receptor for the Edmonston strain of measles virus, human herpesvirus-6, and type IV pili of pathogenic Neisseria. Finally, the protein encoded by this gene may be involved in the fusion of the spermatozoa with the oocyte during fertilization. Mutations at this locus have been associated with susceptibility to hemolytic uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010]., [RefSeq]", "predicted_glycosites": 17, "predicted_n_glycosites": 0, "predicted_o_glycosites": 17, "predicted_c_glycosites": 0, "predicted_s_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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 5, "reported_phosphosites": 2, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 61, "disease_count": 18, "glyco_site_count": 22, "binding_glycan_count": 0, "secondary_ac_list": "A0T1T0;A0T1T1;A0T1T2;Q15429;Q53GV9;Q5HY94;Q5VWS6;Q5VWS7;Q5VWS8;Q5VWS9;Q5VWT0;Q5VWT1;Q5VWT2;Q6N0A1;Q7Z3R5;Q9NNW2;Q9NNW3;Q9NNW4;Q9UCJ4", "ec_number_list": "", "go_molecular_function": "GO:0045296 cadherin binding;GO:0001618 virus receptor activity;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0009986 cell surface;GO:0070062 extracellular exosome", "go_biological_process": "GO:0010628 positive regulation of gene expression;GO:0010629 negative regulation of gene expression;GO:0045087 innate immune response;GO:0007338 single fertilization;GO:0071636 positive regulation of transforming growth factor beta production", "synthesized_glycan_count": 0, "hit_score": 23.5, "record_id": "P15529-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VVQ6-1", "uniprot_id": "OTU1_HUMAN", "mass": 38322.0, "length": 348, "protein_name": "Ubiquitin thioesterase OTU1", "gene_name": "YOD1", "organism": "Human", "refseq_name": "ubiquitin thioesterase OTU1 isoform 2", "refseq_ac": "NP_001263249", "gene_names_uniprotkb": "YOD1; DUBA8; HIN7; OTUD2; PRO0907", "gene_names_refseq": "DUBA-8; DUBA8; HIN-7; OTUD2; PRO0907; YOD1", "protein_names_uniprotkb": "Ubiquitin thioesterase OTU1; 3.4.19.12; DUBA-8; HIN-7; HIV-1-induced protease 7; HsHIN7; OTU domain-containing protein 2", "protein_names_refseq": "HIV-1-induced protease 7; OTU domain containing 2; OTU domain-containing protein 2; YOD1 OTU deubiquinating enzyme 1 homolog (yeast); hsHIN7; ubiquitin thioesterase OTU1 isoform 2; ubiquitin thioesterase OTU1", "tax_id": 9606, "disease": "", "pathway": " (hsa:55432); (R-HSA-5689896)", "pathway_count": 2, "publication_count": 29, "publication_id_list": "10385526;11463333;11483580;14661020;15258597;15334086;19383985;19464428;19818707;19996094;20068231;20553488;22124327;23827681;24610782;25747718;25904330;26280536;27753622;28904123;29242379;31217245;31844290;33912179;36215666;36682332;37078241;37667382;38789414", "class_list": "", "function": "Deubiquitinating enzyme YOD1 deubiquitinates and destabilizes alpha-synuclein., [RefSeq, PubMed]; Deubiquitylase YOD1 regulates CDK1 stability and drives triple-negative breast cancer tumorigenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Hydrolase that can remove conjugated ubiquitin from proteins and participates in endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal proteins. May act by triming the ubiquitin chain on the associated substrate to facilitate their threading through the VCP/p97 pore. Ubiquitin moieties on substrates may present a steric impediment to the threading process when the substrate is transferred to the VCP pore and threaded through VCP's axial channel. Mediates deubiquitination of 'Lys-27'-, 'Lys-29'- and 'Lys-33'-linked polyubiquitin chains. Also able to hydrolyze 'Lys-11'-linked ubiquitin chains. Cleaves both polyubiquitin and di-ubiquitin. May play a role in macroautophagy, regulating for instance the clearance of damaged lysosomes. May recruit PLAA, UBXN6 and VCP to damaged lysosome membranes decorated with K48-linked ubiquitin chains and remove these chains allowing autophagosome formation (PubMed:27753622)., [UniProtKB, PubMed, PubMed, PubMed]; MiR-373 increases proliferation by directly targeting YOD1 in cervical cancer., [RefSeq, PubMed]; Protein ubiquitination controls many intracellular processes, including cell cycle progression, transcriptional activation, and signal transduction. This dynamic process, involving ubiquitin conjugating enzymes and deubiquitinating enzymes, adds and removes ubiquitin. Deubiquitinating enzymes are cysteine proteases that specifically cleave ubiquitin from ubiquitin-conjugated protein substrates. The protein encoded by this gene belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]., [RefSeq]; The assignment of a p97-associated ubiquitin processing function to YOD1 adds to our understanding of p97's role in the dislocation of misfolded proteins from the endoplasmic reticulum., [RefSeq, PubMed]; YOD1 protects against MRSA sepsis-induced DIC through Lys33-linked deubiquitination of NLRP3. Erratum:[Cell Death Dis. 2024 Sep 4;15(9):651. doi: 10.1038/s41419-024-06991-1. PMID: 39231970] Publication Status: Online-Only, [RefSeq, PubMed]; YY1-induced LncRNA-TUG1 elevates YOD1 to promote cell proliferation and inhibit bortezomib sensitivity in multiple myeloma., [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": 5, "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": "B2RNX3;Q5VVQ5;Q6ZRS6;Q86T63;Q9P1L8", "ec_number_list": "3.6.4.6;3.4.19.12", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0031625 ubiquitin protein ligase binding;GO:0004843 cysteine-type deubiquitinase activity;GO:0061578 K63-linked deubiquitinase activity;GO:1990380 K48-linked deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0070536 protein K63-linked deubiquitination;GO:0016236 macroautophagy;GO:0030968 endoplasmic reticulum unfolded protein response;GO:0036503 ERAD pathway;GO:0071108 protein K48-linked deubiquitination", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q5VVQ6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q05823-1", "uniprot_id": "RN5A_HUMAN", "mass": 83533.0, "length": 741, "protein_name": "2-5A-dependent ribonuclease", "gene_name": "RNASEL", "organism": "Human", "refseq_name": "2-5A-dependent ribonuclease", "refseq_ac": "NP_066956", "gene_names_uniprotkb": "RNASEL; RNS4", "gene_names_refseq": "PRCA1; RNASEL; RNS4", "protein_names_uniprotkb": "2-5A-dependent ribonuclease; 2-5A-dependent RNase; 3.1.26.-; RNase L; Ribonuclease 4; Ribonuclease L", "protein_names_refseq": "2',5'-oligoisoadenylate synthetase-dependent; 2-5A-dependent ribonuclease; RNase L; interferon-induced 2-5A-dependent RNase; ribonuclease 4", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); breast cancer (Disease Ontology:DOID:1612); Lynch syndrome (Disease Ontology:DOID:3883)", "pathway": " (hsa:6041); (R-HSA-8983711); (R-HSA-909733)", "pathway_count": 3, "publication_count": 164, "publication_id_list": "10395669;10464285;10542297;10982844;11063255;11092454;11265282;11333017;11337497;11377645;11404376;11585831;11799394;11941539;11980899;11986302;12029096;12415269;12641088;12766484;12842042;14583476;14769151;15047845;15231837;15312780;15330212;15385955;15449939;15534086;15778442;15824169;15981205;16009940;16054567;16171819;16609730;16987978;17020975;17234723;17251292;1730654;17344846;17351669;17407163;17969444;18035202;18289577;18295551;18382242;18575461;18767027;18950583;19608861;20130243;20363976;20643137;20936978;21656378;21665181;2211721;23061660;23084743;23098452;23121362;23319625;23554651;24417533;24500209;24578532;24715725;24931123;25275129;25352621;25371710;25540362;25576301;25775560;25892109;26055709;26154972;26263979;26744630;26760998;26858407;26992070;27846572;27920218;28218747;28832583;28834231;28904123;29088852;29242379;29437277;29557506;29632046;29786170;30315122;30379171;30429286;30485383;31154438;31217245;31530632;31844290;32032529;32113509;32157095;32357974;32387766;32511913;32574262;32661006;32758689;32862111;32938616;32983136;33117408;33189161;33193462;33396578;3350819;33633747;33670646;33717175;33968037;34031250;34272227;35051231;35580925;35655265;36010968;36241641;36284347;36538032;40010341;6162102;6190010;6548414;688397;7510216;7514601;7526154;7537377;7539425;7540766;7680958;8197134;8232552;8605876;8621447;8702790;9096384;9121453;9242679;9334213;9407111;9660177;9847332;9856285;9861020;9862963;9880569", "class_list": "", "function": "ABCE1 Regulates RNase L-Induced Autophagy during Viral Infections. Publication Status: Online-Only, [RefSeq, PubMed]; Carriage of mutations R462Q (rs 486907) and D541E (rs 627928) of the RNASEL gene and risk factors in patients with prostate cancer in Burkina Faso. Publication Status: Online-Only, [RefSeq, PubMed]; Endoribonuclease that functions in the interferon (IFN) antiviral response (PubMed:11585831, PubMed:26263979). In INF treated and virus infected cells, RNASEL probably mediates its antiviral effects through a combination of direct cleavage of single-stranded viral RNAs, inhibition of protein synthesis through the degradation of rRNA, induction of apoptosis, and induction of other antiviral genes (PubMed:11585831, PubMed:26263979). RNASEL mediated apoptosis is the result of a JNK-dependent stress-response pathway leading to cytochrome c release from mitochondria and caspase-dependent apoptosis (PubMed:11585831, PubMed:26263979). Therefore, activation of RNASEL could lead to elimination of virus infected cells under some circumstances (PubMed:11585831, PubMed:26263979). In the crosstalk between autophagy and apoptosis proposed to induce autophagy as an early stress response to small double-stranded RNA and at later stages of prolonged stress to activate caspase-dependent proteolytic cleavage of BECN1 to terminate autophagy and promote apoptosis (PubMed:26263979). Might play a central role in the regulation of mRNA turnover (PubMed:11585831). Cleaves 3' of UpNp dimers, with preference for UU and UA sequences, to sets of discrete products ranging from between 4 and 22 nucleotides in length. Involved in intercellular immune signaling (PubMed:40010341). Cross-activated by 2',5'-oligoadenylates (2-5A) previously generated in RNA virus-infected cells, triggers type I interferon signaling in uninfected neighboring cells to limit local spread of infection (PubMed:40010341)., [UniProtKB, PubMed, PubMed, PubMed]; OAS1/RNase L executes RIG-I ligand-dependent tumor cell apoptosis., [RefSeq, PubMed]; This gene encodes a component of the interferon-regulated 2-5A system that functions in the antiviral and antiproliferative roles of interferons. The protein is involved in innate immunity and is active against multiple RNA viruses, including the influenza and SARS-CoV-2 viruses. Mutations in this gene have been associated with predisposition to prostate cancer and this gene is a candidate for the hereditary prostate cancer 1 (HPC1) allele. [provided by RefSeq, Nov 2021]., [RefSeq]; Zika virus employs the host antiviral RNase L protein to support replication factory assembly., [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": 9, "reported_glycation": 0, "reported_snv": 23, "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": "Q5W0L2;Q6AI46", "ec_number_list": "2.7.7.84;2.7.10.2;2.7.11.1;3.4.25.1;3.6.5.-;3.5.4.37;3.1.26.-;3.1.4.-;3.1.13.4;4.2.-.-;3.1.13.1;2.7.-.-;2.7.4.-;3.1.5.-", "go_molecular_function": "GO:0003723 RNA binding;GO:0004672 protein kinase activity;GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005759 mitochondrial matrix;GO:0005829 cytosol;GO:0016363 nuclear matrix", "go_biological_process": "GO:0006396 RNA processing;GO:0006397 mRNA processing;GO:0006468 protein phosphorylation;GO:0045087 innate immune response;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 16.7, "record_id": "Q05823-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0C7M6-1", "uniprot_id": "IQCF3_HUMAN", "mass": 18251.0, "length": 154, "protein_name": "IQ domain-containing protein F3", "gene_name": "IQCF3", "organism": "Human", "refseq_name": "IQ domain-containing protein F3", "refseq_ac": "NP_001078948", "gene_names_uniprotkb": "IQCF3", "gene_names_refseq": "IQCF3", "protein_names_uniprotkb": "IQ domain-containing protein F3", "protein_names_refseq": "IQ domain-containing protein F3", "tax_id": 9606, "disease": "", "pathway": " (hsa:401067)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;28228285;31844290;32450567", "class_list": "", "function": "Functional Annotations of Single-Nucleotide Polymorphism (SNP)-Based and Gene-Based Genome-Wide Association Studies Show Genes Affecting Keratitis Susceptibility. 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": 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": "B2RUV0", "ec_number_list": "", "go_molecular_function": "GO:0005516 calmodulin binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "P0C7M6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q14657-1", "uniprot_id": "LAGE3_HUMAN", "mass": 14804.0, "length": 143, "protein_name": "EKC/KEOPS complex subunit LAGE3", "gene_name": "LAGE3", "organism": "Human", "refseq_name": "EKC/KEOPS complex subunit LAGE3", "refseq_ac": "NP_006005", "gene_names_uniprotkb": "LAGE3; DXS9879E; ESO3; ITBA2", "gene_names_refseq": "CVG5; DXS9879E; DXS9951E; ESO3; GAMOS2; ITBA2; LAGE3; Pcc1", "protein_names_uniprotkb": "EKC/KEOPS complex subunit LAGE3; L antigen family member 3; Protein ESO-3; Protein ITBA2", "protein_names_refseq": "EKC/KEOPS complex subunit LAGE3; protein ESO-3", "tax_id": 9606, "disease": "Galloway-Mowat syndrome 2 (Disease Ontology:DOID:0080244)", "pathway": " (hsa:8270); (R-HSA-6782315)", "pathway_count": 2, "publication_count": 89, "publication_id_list": "10430867;10982862;11027153;11111046;12384295;12403464;15861136;15870694;15944288;15994936;16043508;16424344;17071714;18567810;19017811;19414587;20112406;20123966;20308323;20354154;20584901;21059936;21131277;22344696;22591353;22912744;22995836;23042678;23048041;23381944;23604283;24126054;24204302;24901367;25261850;25404562;25469497;25916855;26160102;26310293;26811146;27055666;27846572;27893789;27903914;28063628;28218747;28228285;28805828;28832583;28904123;29242379;29351928;29393594;29437277;29493099;29557506;29632046;31092671;31154438;31373491;31481669;31844290;31998317;32157095;32161166;32265295;32387766;32574038;32897882;32938616;33141586;33310661;33691108;33936100;33968037;34837962;35132862;35254053;35289036;35318648;35580925;36610787;37473499;37541260;40307207;8786131;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:22912744, PubMed:27903914). The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37 (PubMed:22912744, PubMed:27903914). LAGE3 functions as a dimerization module for the complex (PubMed:22912744, PubMed:27903914)., [UniProtKB, PubMed, PubMed]; Identification and validation of L Antigen Family Member 3 as an immune-related biomarker associated with the progression of papillary thyroid cancer., [RefSeq, PubMed]; LAGE3 promoted cell proliferation, migration, and invasion and inhibited cell apoptosis of hepatocellular carcinoma by facilitating the JNK and ERK signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; LAGE3 promotes cell metastasis and stemness in non-small cell lung cancer companied with AKT/PI3K signaling pathway activation., [RefSeq, PubMed]; This gene belongs to the ESO/LAGE gene family, members of which are clustered together on chromosome Xq28, and have similar exon-intron structures. Unlike the other family members which are normally expressed only in testis and activated in a wide range of human tumors, this gene is ubiquitously expressed in somatic tissues. The latter, combined with the finding that it is highly conserved in mouse and rat, suggests that the encoded protein is functionally important. An intronless pseudogene with high sequence similarity to this gene is located on chromosome 9. [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": 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": "Q5HY39;Q8IZ78", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016604 nuclear body;GO:0000408 EKC/KEOPS complex", "go_biological_process": "GO:0008033 tRNA processing;GO:1990145 maintenance of translational fidelity;GO:0070525 tRNA threonylcarbamoyladenosine metabolic process", "synthesized_glycan_count": 0, "hit_score": 9.3, "record_id": "Q14657-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q68G74-1", "uniprot_id": "LHX8_HUMAN", "mass": 39301.0, "length": 356, "protein_name": "LIM/homeobox protein Lhx8", "gene_name": "LHX8", "organism": "Human", "refseq_name": "LIM/homeobox protein Lhx8 isoform 1", "refseq_ac": "NP_001001933", "gene_names_uniprotkb": "LHX8", "gene_names_refseq": "LHX7; LHX8", "protein_names_uniprotkb": "LIM/homeobox protein Lhx8; LIM homeobox protein 8", "protein_names_refseq": "LIM-homeodomain protein Lhx8; LIM/homeobox protein Lhx8 isoform 1; LIM/homeobox protein Lhx8", "tax_id": 9606, "disease": "depressive disorder (Disease Ontology:DOID:1596)", "pathway": " (hsa:431707)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "10.1101/2023.09.13.557529;11237011;16327884;16690745;17624344;21143530;36029299;36366827;36602025;38703583", "class_list": "", "function": "Heterozygous loss-of-function variants in LHX8 cause female infertility characterized by oocyte maturation arrest., [RefSeq, PubMed]; LHX8 might play an important role in odontoma formation. This is 1st report on comparison of LHX8 expression between human odontoma-derived mesenchymal cells and normal adult dental mesenchymal stem cells and its overexpression in human samples., [RefSeq, PubMed]; LIM homeobox 8 reduced apoptosis and promoted periodontal tissue regeneration function of dental pulp stem cells., [RefSeq, PubMed]; Mutations in the LHX8 exons are uncommon in Caucasian women with premature ovarian failure. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Single-cell profiling of lncRNAs in human germ cells and molecular analysis reveals transcriptional regulation of LNC1845 on LHX8. Publication Status: Online-Only, [RefSeq, PubMed]; Sohlh1 and Lhx8 are two germ cell-specific, critical regulators of oogenesis, [RefSeq, PubMed]; The protein encoded by this gene is a member of the LIM homeobox family of proteins, which are involved in patterning and differentiation of various tissue types. These proteins contain two tandemly repeated cysteine-rich double-zinc finger motifs known as LIM domains, in addition to a DNA-binding homeodomain. This family member is a transcription factor that plays a role in tooth morphogenesis. It is also involved in oogenesis and in neuronal differentiation. This gene is a candidate gene for cleft palate, and it is also associated with odontoma formation. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]., [RefSeq]; Transcription factor involved in differentiation of certain neurons and mesenchymal cells., [UniProtKB]; Validation of ASCL1 and LHX8 Methylation Analysis as Primary Cervical Cancer Screening Strategy in South African Women with Human Immunodeficiency Virus., [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": 13, "reported_interactions": 0, "missing_score": 9704, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "E9PGE3", "ec_number_list": "", "go_molecular_function": "GO:0046872 metal 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:1990837 sequence-specific double-stranded DNA binding;GO:0043565 sequence-specific DNA binding", "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:0045471 response to ethanol;GO:0030182 neuron differentiation;GO:0021884 forebrain neuron development", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q68G74-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NPA3-1", "uniprot_id": "M1IP1_HUMAN", "mass": 20202.0, "length": 183, "protein_name": "Mid1-interacting protein 1", "gene_name": "MID1IP1", "organism": "Human", "refseq_name": "mid1-interacting protein 1", "refseq_ac": "NP_001092260", "gene_names_uniprotkb": "MID1IP1; MIG12", "gene_names_refseq": "G12-like; MID1IP1; MIG12; S14R; STRAIT11499; THRSPL", "protein_names_uniprotkb": "Mid1-interacting protein 1; Gastrulation-specific G12-like protein; Mid1-interacting G12-like protein; Protein STRAIT11499; S14R; Spot 14-R; Spot 14-related protein", "protein_names_refseq": "MID1 interacting G12-like protein; MID1 interacting protein 1 (gastrulation specific G12-like); gastrulation specific G12 homolog; mid1-interacting protein 1; spot 14-R; spot 14-related protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:58526); (R-HSA-200425)", "pathway_count": 2, "publication_count": 90, "publication_id_list": "10559218;10677481;11356169;11790793;14517221;14711372;15060529;15070402;17223360;18556348;20112406;20233797;20457939;20538056;22123817;22645359;22871568;23186163;24277613;24715725;25418920;25576301;25645385;25892735;26024233;26828774;26992070;27082501;27600516;27846572;27920218;28063628;28228285;28510447;28832583;28834231;28904123;29242379;29371260;29393594;29493099;29557506;29632046;29632711;29769354;29786170;30315122;30429286;30484775;30524438;31154438;31844290;32157095;32265295;32316188;32357974;32387766;32897882;32938616;32983136;33141586;33392160;33592498;33633747;33691108;33717175;33968037;33981976;34153683;34185709;34509645;34561969;34680125;35051231;35318648;35580925;36010968;36241641;36284347;36581221;36632999;37938771;7711730;9048718;9099716;9344464;9399886;9685390;9691089;9706223", "class_list": "", "function": "Colocalization of MID1IP1 and c-Myc is Critically Involved in Liver Cancer Growth via Regulation of Ribosomal Protein L5 and L11 and CNOT2. Publication Status: Online-Only, [RefSeq, PubMed]; Inhibition of CNOT2 Induces Apoptosis via MID1IP1 in Colorectal Cancer Cells by Activating p53. Publication Status: Online-Only, [RefSeq, PubMed]; MIG12 is involved in the LXR activation-mediated induction of the polymerization of mammalian acetyl-CoA carboxylase., [RefSeq, PubMed]; Midline 1 interacting protein 1 promotes cancer metastasis through FOS-like 1-mediated matrix metalloproteinase 9 signaling in HCC., [RefSeq, PubMed]; Plays a role in the regulation of lipogenesis in liver. Up-regulates ACACA enzyme activity. Required for efficient lipid biosynthesis, including triacylglycerol, diacylglycerol and phospholipid. Involved in stabilization of microtubules (By similarity)., [UniProtKB]; Show that MIG12, a 22 kDa cytosolic protein of previously unknown function, binds to acetyl-CoA carboxylase and lowers the threshold for citrate activation into the physiological range., [RefSeq, PubMed]; The results of the present study indicated that Spot14/S14R were differently expressed in MSC adipogenesis in AIS patients, and they may be important in the abnormal adipogenic differentiation in AIS., [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": 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": "D3DWB2", "ec_number_list": "", "go_molecular_function": "GO:0008047 enzyme activator activity;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005874 microtubule;GO:0015630 microtubule cytoskeleton", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0007026 negative regulation of microtubule depolymerization;GO:0045723 positive regulation of fatty acid biosynthetic process;GO:0051258 protein polymerization;GO:0046890 regulation of lipid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 9.3, "record_id": "Q9NPA3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75427-1", "uniprot_id": "LRCH4_HUMAN", "mass": 73450.0, "length": 683, "protein_name": "Leucine-rich repeat and calponin homology domain-containing protein 4", "gene_name": "LRCH4", "organism": "Human", "refseq_name": "leucine-rich repeat and calponin homology domain-containing protein 4 isoform 2", "refseq_ac": "NP_001276863", "gene_names_uniprotkb": "LRCH4; LRN; LRRN1; LRRN4", "gene_names_refseq": "LRCH4; LRN; LRRN1; LRRN4; PP14183", "protein_names_uniprotkb": "Leucine-rich repeat and calponin homology domain-containing protein 4; Leucine-rich neuronal protein; Leucine-rich repeat neuronal protein 4", "protein_names_refseq": "leucine rich repeat neuronal 4; leucine-rich neuronal protein; leucine-rich repeat and calponin homology domain-containing protein 4 isoform 2; leucine-rich repeat and calponin homology domain-containing protein 4; leucine-rich repeats and calponin homology (CH) domain containing 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:4034)", "pathway_count": 1, "publication_count": 50, "publication_id_list": "11237011;17081983;18669648;20058876;22645359;23186163;23481700;26154972;26992070;28228285;28832583;29242379;29351928;29393594;29493099;29557506;29632046;29632711;29786170;30315122;30385858;30410026;30429286;30524438;31154438;31844290;31848261;31937595;32157095;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33633747;33717175;33968037;33981976;34087483;34171305;34405274;35051231;35580925;37938771;9799793", "class_list": "", "function": "Accessory protein that regulates signaling by multiple TLRs, acting as a broad-spanning regulator of the innate immune response. In macrophages, binds LPS and promotes proper docking of LPS in lipid raft membrane. May be required for lipid raft maintenance., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a protein that contains leucine-rich repeats (LRR) at its amino terminus and that is known to be involved in ligand binding. The carboxyl terminus may act as a membrane anchor. Identified structural elements suggest that the encoded protein resembles a receptor. [provided by RefSeq, Jul 2008]., [RefSeq]; Using two bioinformatics pipelines for analysis of RNA fingerprints we identified significant effects of E. coli on the mRNAs HMBS, ATP2C1 and LRCH4. To see whether these three proteins were present in platelets and were influenced by the bacteria, we analysed HMBS, ATP2C1 and LRCH4 in platelet lysates and releasates by Western blot and ELISA. 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": 17, "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": 2, "binding_glycan_count": 0, "secondary_ac_list": "A4D2D5;Q8WV85;Q96ID0", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016605 PML body", "go_biological_process": "GO:0034123 positive regulation of toll-like receptor signaling pathway;GO:0007399 nervous system development;GO:0001765 membrane raft assembly", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "O75427-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UJL9-1", "uniprot_id": "ZF69B_HUMAN", "mass": 61481.0, "length": 534, "protein_name": "Zinc finger protein 69 homolog B", "gene_name": "ZFP69B", "organism": "Human", "refseq_name": "zinc finger protein 69 homolog B", "refseq_ac": "NP_075558", "gene_names_uniprotkb": "ZFP69B; ZNF643", "gene_names_refseq": "ZFP69B; ZKSCAN23B; ZNF643; ZSCAN54B", "protein_names_uniprotkb": "Zinc finger protein 69 homolog B; Zinc finger protein 643", "protein_names_refseq": "novel zinc finger protein; zinc finger protein 643; zinc finger protein 69 homolog B; zinc finger protein ZFP69B", "tax_id": 9606, "disease": "", "pathway": " (hsa:65243); (R-HSA-212436)", "pathway_count": 2, "publication_count": 29, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15146197;15175151;15896744;16606702;16719718;2163759;28832583;28904123;29242379;29393594;29851555;31844290;32387766;33592498;33912179;33968037;34509645;34561969;35051231;38003570;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation. Essential for Golgi structural integrity (PubMed:29851555)., [UniProtKB, PubMed]; ZNF643/ZFP69B Exerts Oncogenic Properties and Associates with Cell Adhesion and Immune Processes. 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": 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": "Q5QPL4", "ec_number_list": "", "go_molecular_function": "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_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007030 Golgi organization", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q9UJL9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q2I0M4-1", "uniprot_id": "LRC26_HUMAN", "mass": 34857.0, "length": 334, "protein_name": "Leucine-rich repeat-containing protein 26", "gene_name": "LRRC26", "organism": "Human", "refseq_name": "leucine-rich repeat-containing protein 26 precursor", "refseq_ac": "NP_001013675", "gene_names_uniprotkb": "LRRC26; CAPC", "gene_names_refseq": "CAPC; LRRC26; bA350O14.10", "protein_names_uniprotkb": "Leucine-rich repeat-containing protein 26; BK channel auxiliary gamma subunit LRRC26; Cytokeratin-associated protein in cancer", "protein_names_refseq": "BK channel auxiliary gamma subunit LRRC26; BK channel auxilliary gamma subunit LRRC26; cytokeratin associated protein; cytokeratin-associated protein in cancer; leucine-rich repeat-containing protein 26 precursor; leucine-rich repeat-containing protein 26", "tax_id": 9606, "disease": "", "pathway": " (hsa:389816)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "16585525;19250639;20613726;21822313;22547800;23481700;24639523;24715725;25576301;26009545;26992070;29242379;29741879;29789417;32157095;32387766;33936100;35051231;35318648", "class_list": "", "function": "Auxiliary protein of the large-conductance, voltage and calcium-activated potassium channel (BK alpha). Required for the conversion of BK alpha channels from a high-voltage to a low-voltage activated channel type in non-excitable cells. These are characterized by negative membrane voltages and constant low levels of calcium., [UniProtKB, PubMed, PubMed]; CAPC transcripts have differential expression in cancer cell lines, and that S-CAPC is translated into a 7.5 kDa protein using a non-AUG start codon., [RefSeq, PubMed]; In non-excitable LNCaP prostate cancer cells, BK channels can be activated at negative voltages without rises in [Ca(2+)](i) through their complex with an auxiliary protein, leucine-rich repeat (LRR)-containing protein 26 (LRRC26), [RefSeq, PubMed]; Regulation of the Ca(2+)- and voltage-activated large conductance Ca(2+)-activated K(+) (BK) channel by associated gamma1-subunits, was investigated., [RefSeq, PubMed]; Suggest that BK channel modulation by auxiliary gamma subunits depends on intra- and/or juxta-membrane mechanisms., [RefSeq, PubMed]; The role of CAPC in the suppression of tumor growth and metastasis may be through its alteration of the tumor microenvironment., [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B9EIR7;C3RUL3;Q5VSG2", "ec_number_list": "", "go_molecular_function": "GO:0015459 potassium channel regulator activity;GO:0044325 transmembrane transporter binding;GO:0005249 voltage-gated potassium channel activity;GO:0099104 potassium channel activator activity", "go_cellular_component": "GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0008076 voltage-gated potassium channel complex", "go_biological_process": "GO:1903818 positive regulation of voltage-gated potassium channel activity;GO:0071805 potassium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q2I0M4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13637-1", "uniprot_id": "RAB32_HUMAN", "mass": 24997.0, "length": 225, "protein_name": "Ras-related protein Rab-32", "gene_name": "RAB32", "organism": "Human", "refseq_name": "ras-related protein Rab-32", "refseq_ac": "NP_006825", "gene_names_uniprotkb": "RAB32", "gene_names_refseq": "PARK26; RAB32", "protein_names_uniprotkb": "Ras-related protein Rab-32; 3.6.5.2", "protein_names_refseq": "ras-related protein Rab-32", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330); Parkinson disease 26, autosomal dominant, susceptibility to (MONDO:MONDO:0975748)", "pathway": " (hsa:10981); (R-HSA-8873719); (R-HSA-8876198)", "pathway_count": 3, "publication_count": 242, "publication_id_list": "10818110;10990452;11038176;11141079;11179213;11389151;11447212;11516400;11675392;11689439;11703925;11746448;11784320;11917121;12058051;12186851;12221131;12244319;12364329;12427552;12475894;12684051;12944476;12972505;15096524;15138286;1516130;15247254;15388334;15528189;15561770;15692570;15878329;15914536;15958533;16207721;16373702;16401880;16410077;1648736;16525024;16525121;16557577;16571673;16641372;16754960;16880209;16950109;17043139;17114793;17132146;17189207;17208202;17239822;17287728;17411337;17488286;17562788;17574030;17646400;17671165;17678623;18076383;18094055;18354496;18367545;1845915;18477474;18512783;18532927;18559336;18578522;18585354;18664496;18669648;18691976;18701652;18779367;18804435;1900457;19109890;19345684;19403694;19490898;19593531;19603039;19620288;19656848;19725050;19729655;19745841;20008558;20068231;20154091;20159109;20159556;20305638;20308558;20404108;20434987;20592283;20797862;20851765;20937701;21041651;2115402;21183348;21187289;21216617;21255211;21273506;21330364;21421921;21445324;21458671;21532587;21554507;21586568;21683469;21706022;21718402;21776405;21808068;21951725;22013193;22065758;22072793;22171327;22223895;22365832;22433857;22511774;22581368;22595670;22622570;22648168;22653444;22694141;22705394;22762500;22908308;22983554;23084991;23091056;23147242;23176487;23176493;23186163;23220125;23239882;23247405;23263280;23295650;23333653;23351085;23357852;23378591;23420520;23444368;23478338;23645161;23678941;23684622;23713133;23839779;24023390;24296415;24644286;24694596;24719330;24856514;24891604;24917561;24967941;25074980;25341920;25343031;25472813;25489052;25648148;25713415;25925668;26055712;26177209;26245486;26434594;26538022;26925400;26936971;26969162;27041585;27044746;27103185;27246931;27329675;28510447;28649982;29393594;29557506;30379171;30429286;30484775;30833945;31154438;31844290;31848261;31998317;32350084;32387766;32983136;33592498;33968037;34171305;35251023;35580925;36922509;38127736;38448858;38614108;38858457;7688123;7911226;7957092;7991565;8144603;8164745;8349690;8375503;8408203;8513495;8522602;8631982;8662963;8836150;8863739;9020086;9020161;9030515;9136770;9323142;9590177;9733780", "class_list": "", "function": "Deciphering the molecular regulatory of RAB32/GPRC5A axis in chronic obstructive pulmonary disease. Publication Status: Online-Only, [RefSeq, PubMed]; RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses., [RefSeq, PubMed]; RAB32 inactivation may represent a component of the oncogenic pathway of microsatellite-unstable gastrointestinal adenocarcinomas, [RefSeq, PubMed]; Rab32 is a dual function protein that participates in both mitochondrial anchoring of PKA and synchronization of mitochondrial fission., [RefSeq, PubMed]; Rab32 promotes glioblastoma migration and invasion via regulation of ERK/Drp1-mediated mitochondrial fission. Publication Status: Online-Only, [RefSeq, PubMed]; Results suggest that Rab32 facilitates the formation of autophagic vacuoles whose membranes are derived from the ER and regulates the clearance of aggregated proteins by autophagy., [RefSeq, PubMed]; Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson's disease., [RefSeq, PubMed]; The protein encoded by this gene anchors the type II regulatory subunit of protein kinase A to the mitochondrion and aids in mitochondrial fission. The encoded protein also appears to be involved in autophagy and melanosome secretion. Variations in this gene may be linked to leprosy. [provided by RefSeq, Dec 2015]., [RefSeq]; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes (PubMed:11784320, PubMed:21808068). 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:11784320). Also acts as an A-kinase anchoring protein by binding to the type II regulatory subunit of protein kinase A and anchoring it to the mitochondrion. Also involved in synchronization of mitochondrial fission (PubMed:12186851). Plays a role in the maturation of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis (PubMed:21255211). Plays an important role in the control of melanin production and melanosome biogenesis (PubMed:23084991). In concert with RAB38, regulates the proper trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes (By similarity). Stimulates phosphorylation of RAB10 'Thr-73' by LRRK2 (PubMed:38127736)., [UniProtKB, PubMed, PubMed, 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": 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": 9, "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": "", "ec_number_list": "3.6.5.-;3.6.5.2;3.6.5.3;3.6.5.5;3.6.1.5;3.6.1.-;2.5.1.60;3.6.5.4;2.7.11.1;3.6.-.-;3.6.1.15;3.6.1.6;3.6.1.42", "go_molecular_function": "GO:0035651 AP-3 adaptor complex binding;GO:0036461 BLOC-2 complex binding;GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0030742 GTP-dependent protein binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005769 early endosome;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:1903232 melanosome assembly;GO:0090382 phagosome maturation;GO:0006886 intracellular protein transport;GO:0016192 vesicle-mediated transport;GO:0032438 melanosome organization", "synthesized_glycan_count": 0, "hit_score": 24.5, "record_id": "Q13637-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N7C3-1", "uniprot_id": "TRIMM_HUMAN", "mass": 49893.0, "length": 437, "protein_name": "Probable E3 ubiquitin-protein ligase TRIML2", "gene_name": "TRIML2", "organism": "Human", "refseq_name": "probable E3 ubiquitin-protein ligase TRIML2 isoform 1", "refseq_ac": "NP_001290348", "gene_names_uniprotkb": "TRIML2; SPRYD6", "gene_names_refseq": "SPRYD6; TRIML2", "protein_names_uniprotkb": "Probable E3 ubiquitin-protein ligase TRIML2; 2.3.2.27; RING-type E3 ubiquitin transferase TRIML2; SPRY domain-containing protein 6; Tripartite motif family-like protein 2", "protein_names_refseq": "RING-type E3 ubiquitin transferase TRIML2; SPRY domain-containing protein 6; probable E3 ubiquitin-protein ligase TRIML2 isoform 1; probable E3 ubiquitin-protein ligase TRIML2; tripartite motif family-like protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:205860)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;25256710;27471163;30379171;30532138;31633784", "class_list": "", "function": "Data indicate that TRIML2 is part of a feed-forward loop that activates p53 in cells expressing the R72 variant, particularly after prolonged stress., [RefSeq, PubMed]; Eutherian-Specific Gene TRIML2 Attenuates Inflammation in the Evolution of Placentation., [RefSeq, PubMed]; Findings indicate that the C allele of two single nucleotide polymorphisms in the tripartite motif family-like 2 (TRIML2) gene was associated with an increased risk of Alzheimer disease (AD). These results suggest that TRIML2 may contribute to AD susceptibility., [RefSeq, PubMed]; The degradation of STAT6 is induced and required for the lytic activation of human herpesviruses and is association with the increased ubiquitylated form of TRIML2 Erratum:[PLoS Pathog. 2022 Jun 1;18(6):e1010579. doi: 10.1371/journal.ppat.1010579. PMID: 35648772] Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the tri-partite motif (TRIM) family of proteins. This protein may be regulated by the tumor suppressor p53 and may regulate p53 through the enhancement of p53 SUMOylation. Alternative splicing results in multiple transcript variants. [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": 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": "B7Z6J6", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0045087 innate immune response;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q8N7C3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75608-1", "uniprot_id": "LYPA1_HUMAN", "mass": 24670.0, "length": 230, "protein_name": "Acyl-protein thioesterase 1", "gene_name": "LYPLA1", "organism": "Human", "refseq_name": "acyl-protein thioesterase 1 isoform 6", "refseq_ac": "NP_001266289", "gene_names_uniprotkb": "LYPLA1; APT1; LPL1", "gene_names_refseq": "APT-1; APT1; LPL-I; LPL1; LYPLA1; hAPT1", "protein_names_uniprotkb": "Acyl-protein thioesterase 1; 3.1.2.-; 3.1.2.22; APT-1; LPL-I; LysoPLA I; Lysophospholipase 1; Lysophospholipase I; Palmitoyl-protein hydrolase; hAPT1", "protein_names_refseq": "acyl-protein thioesterase 1 isoform 6; acyl-protein thioesterase 1; lysoPLA I; lysophospholipase I; lysophospholipid-specific lysophospholipase; palmitoyl-protein hydrolase", "tax_id": 9606, "disease": "", "pathway": " (hsa:10434); (R-HSA-203615); (R-HSA-9648002)", "pathway_count": 3, "publication_count": 155, "publication_id_list": "10085068;10085069;10376602;10376603;10469573;10559837;10667208;10781589;11038283;11080636;11120601;11196150;11208594;11237011;11498544;11585916;11739732;11879202;11893755;11988487;12433685;12727204;12750467;12799359;14530264;14561760;14660603;14966563;15451670;15598505;15659645;16000296;16043511;16483930;16722822;16864653;18171027;18182391;18446211;18502828;19147491;19188362;19439193;19663506;20416930;20418879;20511233;20622895;20802526;21170358;21393252;21661760;21779505;21898353;21905185;21905186;22002721;22144181;22179043;22195972;22223895;22399288;22589270;22645359;22721555;23301498;23514631;23698361;23943869;24033119;24725411;24971579;25550383;25576301;25713064;25759176;25781681;26085527;26154972;26375851;26590425;2661017;26701913;26706195;26771141;2682646;26992070;27094677;27396271;27410739;27481942;27600516;27697864;27791178;27862975;28167504;28218747;28228285;28630138;28666118;28671819;28778966;28832583;28855257;28904123;29242379;29311131;29424242;29437277;29508533;29557506;29648538;30315122;30410026;30429286;31844290;31848261;32157095;32350084;32387766;32488085;32877642;32897882;32938616;32983136;33123756;33592498;33633747;33912179;33936100;33968037;34019948;34357683;34509645;34984578;35051231;35251023;35580925;36580660;37296100;37802024;38179877;38344800;38665916;7512951;8692835;8798458;9188442;9325253;9436858;9580552;9712842;9810004;9822558;9851253", "class_list": "", "function": "A conserved but structurally divergent loop in acyl protein thioesterase 1 regulates its catalytic activity, ligand binding, and folded stability., [RefSeq, PubMed]; Acts as an acyl-protein thioesterase (PubMed:19439193, PubMed:20418879). Hydrolyzes fatty acids from S-acylated cysteine residues in proteins such as trimeric G alpha proteins or HRAS (PubMed:20418879). Acts as a palmitoyl thioesterase that catalyzes depalmitoylation of proteins, such as ADRB2, KCNMA1 and SQSTM1 (PubMed:22399288, PubMed:27481942, PubMed:37802024). Acts as a negative regulator of autophagy by mediating palmitoylation of SQSTM1, decreasing affinity between SQSTM1 and ATG8 proteins and recruitment of ubiquitinated cargo proteins to autophagosomes (PubMed:37802024). Acts as a lysophospholipase and hydrolyzes lysophosphatidylcholine (lyso-PC) (PubMed:19439193). Also hydrolyzes lysophosphatidylethanolamine (lyso-PE), lysophosphatidylinositol (lyso-PI) and lysophosphatidylserine (lyso-PS) (By similarity). Has much higher thioesterase activity than lysophospholipase activity (PubMed:19439193). Contributes to the production of lysophosphatidic acid (LPA) during blood coagulation by recognizing and cleaving plasma phospholipids to generate lysophospholipids which in turn act as substrates for ENPP2 to produce LPA (PubMed:21393252)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Acts as an acyl-protein thioesterase. Hydrolyzes fatty acids from S-acylated cysteine residues in proteins such as trimeric G alpha proteins or HRAS. Acts as a palmitoyl thioesterase that catalyzes depalmitoylation of proteins, such as ADRB2, KCNMA1 and SQSTM1. Acts as a negative regulator of autophagy by mediating palmitoylation of SQSTM1, decreasing affinity between SQSTM1 and ATG8 proteins and recruitment of ubiquitinated cargo proteins to autophagosomes. Acts as a lysophospholipase and hydrolyzes lysophosphatidylcholine (lyso-PC). Also hydrolyzes lysophosphatidylethanolamine (lyso-PE), lysophosphatidylinositol (lyso-PI) and lysophosphatidylserine (lyso-PS). Has much higher thioesterase activity than lysophospholipase activity. Contributes to the production of lysophosphatidic acid (LPA) during blood coagulation by recognizing and cleaving plasma phospholipids to generate lysophospholipids which in turn act as substrates for ENPP2 to produce LPA., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Depalmitoylation and cell physiology: APT1 as a mediator of metabolic signals. Review article, [RefSeq, PubMed]; LncRNA LOXL1-AS1 Facilitates the Oncogenic Character in Cervical Cancer by the miR-526b-5p /LYPLA1 Axis. Erratum:[Biochem Genet. 2023 Feb;61(1):448. doi: 10.1007/s10528-022-10301-9. PMID: 36352082], [RefSeq, PubMed]; This gene encodes a member of the alpha/beta hydrolase superfamily. The encoded protein functions as a homodimer, exhibiting both depalmitoylating as well as lysophospholipase activity, and may be involved in Ras localization and signaling. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 4, 6, and 7. [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": 2, "reported_mutagensis": 1, "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": "O43202;Q9UQF9", "ec_number_list": "3.1.2.2;3.1.1.4;3.1.1.5;3.1.2.22;2.3.1.-;3.1.2.-;3.6.5.2;3.1.1.32;3.1.1.3;3.1.1.13;3.1.1.6;1.14.13.39;3.4.-.-;3.1.1.-;3.1.4.-;3.5.1.1;3.1.1.47;3.4.19.12;3.1.1.93", "go_molecular_function": "GO:0016298 lipase activity;GO:0004620 phospholipase activity;GO:0004622 phosphatidylcholine lysophospholipase activity;GO:0008474 palmitoyl-(protein) hydrolase activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006631 fatty acid metabolic process;GO:0015908 fatty acid transport;GO:0042997 negative regulation of Golgi to plasma membrane protein transport;GO:0002084 protein depalmitoylation;GO:1905336 negative regulation of aggrephagy", "synthesized_glycan_count": 0, "hit_score": 15.8, "record_id": "O75608-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZMV7-1", "uniprot_id": "LEKR1_HUMAN", "mass": 16005.0, "length": 132, "protein_name": "Protein LEKR1", "gene_name": "LEKR1", "organism": "Human", "refseq_name": "protein LEKR1 isoform 2", "refseq_ac": "NP_001180212", "gene_names_uniprotkb": "LEKR1", "gene_names_refseq": "LEKR1", "protein_names_uniprotkb": "Protein LEKR1", "protein_names_refseq": "leucine-, glutamate- and lysine-rich protein 1; protein LEKR1 isoform 2; protein LEKR1", "tax_id": 9606, "disease": "", "pathway": " (hsa:389170)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;22073261;25898001;27607899", "class_list": "", "function": "Birth weight lowering effect of the C-allele of rs900400 located near LEKR1 and CCNL1 was replicated in the Danish population. Furthermore the C-allele was associated with increased insulin response following oral glucose stimulation, [RefSeq, PubMed]; Results suggest that LEKR1-CCNL1 and IGSF21-KLHDC7A gene polymorphisms influence the development of diabetic retinopathy (DR)., [RefSeq, PubMed]; SNPs in LEKR1 and GALNT10 modulate sex-difference in carotid intima-media thickness., [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": "D3DNK8;S4R3D4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q6ZMV7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H008-1", "uniprot_id": "LHPP_HUMAN", "mass": 29165.0, "length": 270, "protein_name": "Phospholysine phosphohistidine inorganic pyrophosphate phosphatase", "gene_name": "LHPP", "organism": "Human", "refseq_name": "phospholysine phosphohistidine inorganic pyrophosphate phosphatase isoform 4", "refseq_ac": "NP_001305261", "gene_names_uniprotkb": "LHPP", "gene_names_refseq": "HDHD2B; LHPP", "protein_names_uniprotkb": "Phospholysine phosphohistidine inorganic pyrophosphate phosphatase; 3.1.3.-; 3.6.1.1; hLHPP", "protein_names_refseq": "hLHPP; phospholysine phosphohistidine inorganic pyrophosphate phosphatase isoform 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:64077); (R-HSA-71737)", "pathway_count": 2, "publication_count": 30, "publication_id_list": "11237011;12801912;16385451;16430861;18268499;25576301;27600516;27846572;28228285;28832583;28904123;29242379;29786170;30030002;30315122;30429286;31844290;32157095;32502341;32938616;33141586;33912179;33968037;35002505;35580925;35796893;36241641;36355716;36546683;37321804", "class_list": "", "function": "As a Novel Tumor Suppressor, LHPP Promotes Apoptosis by Inhibiting the PI3K/AKT Signaling Pathway in Oral Squamous Cell Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of Tumor Suppressor Gene LHPP-Based 5-microRNA Signature That Predicts the Early- and Midstage Esophageal Squamous Cell Carcinoma: A Two-Stage Case-Control Study in the Chinese Han Population., [RefSeq, PubMed]; LHPP Inhibits the Viability, Migration, and Proliferation of PDAC Cells and Significantly Affects the Expression of SDC1 and S100p., [RefSeq, PubMed]; LHPP promotes the intracellular reactive oxygen species accumulation and sensitivity of gastric cancer to cisplatin via JNK and p38 MAPK pathways., [RefSeq, PubMed]; Lhpp or a product of a collinear brain-specific transcript, therefore, may interact with Htr1a in the pathogenesis of major depression GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Phosphatase that hydrolyzes imidodiphosphate, 3-phosphohistidine and 6-phospholysine. Has broad substrate specificity and can also hydrolyze inorganic diphosphate, but with lower efficiency (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Tumor suppressor LHPP suppresses cell proliferation and epithelial-mesenchymal transition in hepatocellular carcinoma cell lines., [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": "B3KP20;Q2TBE9;Q5VUV9;Q5VUW0", "ec_number_list": "3.1.3.1;3.9.1.1;3.6.1.1;3.1.3.-", "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0046872 metal ion binding;GO:0004427 inorganic diphosphate phosphatase activity;GO:0016791 phosphatase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016607 nuclear speck", "go_biological_process": "GO:0006796 phosphate-containing compound metabolic process", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q9H008-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q969X1-1", "uniprot_id": "LFG3_HUMAN", "mass": 34607.0, "length": 311, "protein_name": "Protein lifeguard 3", "gene_name": "TMBIM1", "organism": "Human", "refseq_name": "protein lifeguard 3 isoform 1", "refseq_ac": "NP_001308356", "gene_names_uniprotkb": "TMBIM1; LFG3; PP1201; PSEC0158; RECS1", "gene_names_refseq": "LFG3; MST100; MSTP100; PP1201; RECS1; TMBIM1", "protein_names_uniprotkb": "Protein lifeguard 3; Protein RECS1 homolog; Transmembrane BAX inhibitor motif-containing protein 1", "protein_names_refseq": "protein lifeguard 3 isoform 1; protein lifeguard 3; transmembrane BAX inhibitor motif-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:64114); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 37, "publication_id_list": "11237011;15498874;16303743;16607040;18088087;19784873;20068231;20166139;23186163;23650620;25502872;25576301;25892735;27452731;28228285;28832583;28855257;29242379;29557506;29769354;30315122;30429286;30447906;31154438;31844290;32157095;32387766;32983136;33592498;33912179;33968037;34099068;34185709;34357683;35580925;37823951;8692836", "class_list": "", "function": "MicroRNA-582-3p knockdown alleviates non-alcoholic steatohepatitis by altering the gut microbiota composition and moderating TMBIM1., [RefSeq, PubMed]; Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences. Publication Status: Online-Only, [RefSeq, PubMed]; Negatively regulates aortic matrix metalloproteinase-9 (MMP9) production and may play a protective role in vascular remodeling., [UniProtKB]; We aimed to replicate the association of rs992157 with CRC in the Chinese population and to further determine the real susceptible gene of CRC as indicated by this variant. Variant rs992157 is significantly associated with the susceptibility and progression of colorectal cancer. It can increase the risk of CRC possibly via up-regulation of TMBIM1., [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": "B3KQY6;Q8N1R3;Q8TAM3;Q96K13", "ec_number_list": "", "go_molecular_function": "GO:0005262 calcium channel activity;GO:0005123 death receptor binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:2000504 positive regulation of blood vessel remodeling;GO:0043086 negative regulation of catalytic activity;GO:0043524 negative regulation of neuron apoptotic process;GO:1903077 negative regulation of protein localization to plasma membrane;GO:1902042 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q969X1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HAT1-1", "uniprot_id": "LMA1L_HUMAN", "mass": 57129.0, "length": 526, "protein_name": "Protein ERGIC-53-like", "gene_name": "LMAN1L", "organism": "Human", "refseq_name": "protein ERGIC-53-like precursor", "refseq_ac": "NP_068591", "gene_names_uniprotkb": "LMAN1L; ERGL; PRO7174", "gene_names_refseq": "ERGIC-53L; ERGL; LMAN1L", "protein_names_uniprotkb": "Protein ERGIC-53-like; ERGIC53-like protein; LMAN1-like protein; Lectin mannose-binding 1-like", "protein_names_refseq": "ERGIC53-like protein; LMAN1-like protein; protein ERGIC-53-like precursor; protein ERGIC-53-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:79748); (R-HSA-204005); (R-HSA-5694530)", "pathway_count": 3, "publication_count": 89, "publication_id_list": "10445031;10559958;10559959;10652252;10679020;10747087;10788476;10825291;10903204;10982397;11035026;11237011;11255007;11285137;11306556;11927603;12070132;12235121;12237308;12975309;15037235;16129679;16303754;16495487;16624868;16912714;17005010;17010120;17038314;17192411;17287728;17316621;17499046;17562788;17607000;17684057;17805346;18025080;18056485;18283111;18287528;18843296;19164740;19265014;19269366;19566487;19638414;19656848;20237496;20427317;20477988;20533886;20545907;20679433;20805473;20966969;21478858;21525241;21532587;21689688;21878990;22013193;22157747;22675024;23378591;23479643;23698585;23852824;23864707;24119662;24917561;25202031;25406594;25492864;25586378;25619252;25619253;27452731;35051231;8221884;8620540;8663406;9094723;9150144;9177194;9307973;9395526;9472029;9647643", "class_list": "glycogene", "function": "Binding of ERGIC-53 to sugar is enhanced by its interaction with MCFD2, and defects in this interaction in factor V and VIII deeficient patients may be the cause for reduced secretion of factors V and VIII., [RefSeq, PubMed]; ERGIC-53 provides a platform that receives micro(2)L(2) subunits from the BiP-dependent checkpoint, assisting polymerization. In this process, ERp44 couples thiol-dependent assembly and quality control., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The results reveal ERGIC-53 to be an intracellular transport receptor of alpha1-AT and provide direct evidence for active receptor-mediated ER export of a soluble secretory protein in higher eukaryotes, [RefSeq, PubMed]; This gene encodes a mannose-binding type 1 transmembrane protein that contains an N-terminal lectin-like carbohydrate recognition domain. The encoded protein is similar in structure to lectins found in leguminous plants. This lectin is thought to transport newly synthesized glycoproteins from the endoplasmic reticulum (ER) to the ER-Golgi intermediate compartment. [provided by RefSeq, Jan 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 694, "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": "Q6UWN2", "ec_number_list": "", "go_molecular_function": "GO:0005537 D-mannose binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0030134 COPII-coated ER to Golgi transport vesicle;GO:0031012 extracellular matrix;GO:0005789 endoplasmic reticulum membrane;GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane", "go_biological_process": "GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "Q9HAT1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60309-1", "uniprot_id": "L37A3_HUMAN", "mass": 180621.0, "length": 1634, "protein_name": "Leucine-rich repeat-containing protein 37A3", "gene_name": "LRRC37A3", "organism": "Human", "refseq_name": "leucine-rich repeat-containing protein 37A3 isoform 1 precursor", "refseq_ac": "NP_955372", "gene_names_uniprotkb": "LRRC37A3; KIAA0563", "gene_names_refseq": "LRRC37A3", "protein_names_uniprotkb": "Leucine-rich repeat-containing protein 37A3", "protein_names_refseq": "leucine-rich repeat-containing protein 37A3 isoform 1 precursor; leucine-rich repeat-containing protein 37A3", "tax_id": 9606, "disease": "", "pathway": " (hsa:374819)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "10.1074/mcp.M114.046862;11237011;25813380;31844290;32350084;38253038;39894887", "class_list": "", "function": "", "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": 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": 48, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "Q49A01;Q49A80;Q8NB33", "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": "O60309-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P35232-1", "uniprot_id": "PHB1_HUMAN", "mass": 29804.0, "length": 272, "protein_name": "Prohibitin 1", "gene_name": "PHB1; PHB", "organism": "Human", "refseq_name": "prohibitin 1 isoform 1", "refseq_ac": "NP_001268425", "gene_names_uniprotkb": "PHB1; PHB; PHB", "gene_names_refseq": "BAP32; HEL-215; HEL-S-54e; PHB1; PHB", "protein_names_uniprotkb": "Prohibitin 1", "protein_names_refseq": "epididymis luminal protein 215; epididymis secretory sperm binding protein Li 54e; prohibitin 1 isoform 1; prohibitin", "tax_id": 9606, "disease": "urinary bladder cancer (Disease Ontology:DOID:11054); breast cancer (Disease Ontology:DOID:1612); transitional cell carcinoma (Disease Ontology:DOID:2671); sporadic breast cancer (Disease Ontology:DOID:8029); prostate carcinoma in situ (Disease Ontology:DOID:8634); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991)", "pathway": " (hsa:5245); (R-HSA-5673000); (R-HSA-6802946); (R-HSA-6802955); (R-HSA-8949664); (R-HSA-9649948)", "pathway_count": 6, "publication_count": 199, "publication_id_list": "10.1101/2023.09.13.557529;10205168;10712905;10891492;11032810;11237011;11302691;11325826;11377649;11466336;11494123;11741534;11756411;12068308;12244094;12551923;12932319;12932339;14500729;14530258;15035987;15258589;1540973;15467451;15710605;15711535;15899852;16041367;16093354;16294014;16364920;16508002;16537381;16630891;16702958;17018604;17081983;17097642;18294816;18562239;18662992;19007248;19049963;19158341;19238206;19541618;19608861;19640993;19684605;19727074;19906925;19933846;20068231;20112406;20130576;20141835;20179705;20674547;20820846;20959514;21441104;21441910;21514245;21746876;21779496;21993244;22043453;22124450;22292133;22410782;22510884;22589270;22592532;22997079;23352452;23360980;23453624;23481700;23680146;23863182;23906342;23993095;24003225;24121058;24121489;24202393;24211266;24275569;24347342;24366607;24651010;24715725;24937142;24957944;24958902;25418920;25435214;25502872;25576301;25645385;25719244;25802875;25810538;25907612;25965804;26154972;26343583;26811146;26929215;26992070;27264673;27452731;27642048;27726376;27737933;27862975;27999210;28017329;28082416;28289718;28467828;28666118;28904123;28984291;29351928;29461827;29493099;29557506;30429286;30444036;30484775;31092671;31217245;31522117;31844290;31899195;32119511;32157095;32350084;32357974;32387766;32488085;32665357;32897882;32938616;32983136;33043033;33091337;33214551;33298915;33592498;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34357683;34405274;34509645;34561969;34725712;35051231;35083852;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37217939;37938771;38086446;38332916;38617530;38665916;39395807;40596516;40914422;41398051;7542586;7744815;8244394;8521512;8521513;8521514;8637718;8876196;8946910;9020159;9234708;9689060;9823899;9858547", "class_list": "", "function": "Galectin-3 and prohibitin 1 are autoantigens in IgG4-related cholangitis without clear-cut protective effects against toxic bile acids. Publication Status: Online-Only, [RefSeq, PubMed]; Hepatic prohibitin 1 and methionine adenosyltransferase alpha1 defend against primary and secondary liver cancer metastasis., [RefSeq, PubMed]; In the mitochondria, together with PHB2, forms large ring complexes (prohibitin complexes) in the inner mitochondrial membrane (IMM) and functions as a chaperone protein that stabilizes mitochondrial respiratory enzymes and maintains mitochondrial integrity in the IMM, which is required for mitochondrial morphogenesis, neuronal survival, and normal lifespan (Probable). The prohibitin complex, with DNAJC19, regulates cardiolipin remodeling and the protein turnover of OMA1 in a cardiolipin-binding manner (By similarity). Regulates mitochondrial respiration activity playing a role in cellular aging (PubMed:11302691). The prohibitin complex plays a role of mitophagy receptor involved in targeting mitochondria for autophagic degradation (PubMed:28017329). Involved in mitochondrial-mediated antiviral innate immunity, activates RIG-I-mediated signal transduction and production of IFNB1 and pro-inflammatory cytokine IL6 (PubMed:31522117)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; In the nucleus, acts as a transcription coregulator, enhances promoter binding by TP53, a transcription factor it activates, but reduces the promoter binding by E2F1, a transcription factor it represses (PubMed:14500729). Interacts with STAT3 to affect IL17 secretion in T-helper Th17 cells (PubMed:31899195)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; In the plasma membrane, cooperates with CD86 to mediate CD86-signaling in B lymphocytes that regulates the level of IgG1 produced through the activation of distal signaling intermediates (By similarity). Upon CD40 engagement, required to activate NF-kappa-B signaling pathway via phospholipase C and protein kinase C activation (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; PTPLAD1 Regulates PHB-Raf Interaction to Orchestrate Epithelial-Mesenchymal and Mitofusion-Fission Transitions in Colorectal Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Protein with pleiotropic attributes mediated in a cell-compartment- and tissue-specific manner, which include the plasma membrane-associated cell signaling functions, mitochondrial chaperone, and transcriptional co-regulator of transcription factors in the nucleus (PubMed:11302691, PubMed:20959514, PubMed:28017329, PubMed:31522117). Plays a role in adipose tissue and glucose homeostasis in a sex-specific manner (By similarity). Contributes to pulmonary vascular remodeling by accelerating proliferation of pulmonary arterial smooth muscle cells (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene is evolutionarily conserved, and its product is proposed to play a role in human cellular senescence and tumor suppression. Antiproliferative activity is reported to be localized to the 3' UTR, which is proposed to function as a trans-acting regulatory RNA. Several pseudogenes of this gene have been identified. 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": 2, "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": 1, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 6, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B4DY47;Q4VBQ0", "ec_number_list": "", "go_molecular_function": "GO:0019899 enzyme binding;GO:0046982 protein heterodimerization activity;GO:0003714 transcription corepressor activity;GO:0042826 histone deacetylase binding;GO:0001851 complement component C3b binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0071897 DNA biosynthetic process;GO:0032740 positive regulation of interleukin-17 production;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0007165 signal transduction;GO:0008285 negative regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 20.8, "record_id": "P35232-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q05469-1", "uniprot_id": "LIPS_HUMAN", "mass": 116598.0, "length": 1076, "protein_name": "Hormone-sensitive lipase", "gene_name": "LIPE", "organism": "Human", "refseq_name": "hormone-sensitive lipase isoform 11", "refseq_ac": "NP_005348", "gene_names_uniprotkb": "LIPE", "gene_names_refseq": "AOMS4; FPLD6; HSL; LHS; LIPE; REH", "protein_names_uniprotkb": "Hormone-sensitive lipase; 3.1.1.23; 3.1.1.79; HSL; Monoacylglycerol lipase LIPE; REH; Retinyl ester hydrolase", "protein_names_refseq": "hormone-sensitive lipase isoform 11; hormone-sensitive lipase; lipase, hormone-sensitive; monoacylglycerol lipase LIPE; retinyl ester hydrolase", "tax_id": 9606, "disease": "familial partial lipodystrophy type 6 (Disease Ontology:DOID:0070206); hypertension (Disease Ontology:DOID:10763); heart disease (Disease Ontology:DOID:114); arteriosclerosis (Disease Ontology:DOID:2349); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:3991); (R-HSA-163560); (R-HSA-9841922)", "pathway_count": 3, "publication_count": 98, "publication_id_list": "10425206;10558993;10671541;10835357;10882139;11027271;11237011;11581251;12829629;12832420;1310260;14641008;15308678;15364929;15456755;15716583;15955102;16188906;16380219;16690773;16741517;16803459;16959974;17026959;17603008;17761950;18398140;19018281;19043829;19172745;19181555;19755426;19800417;19996383;20230923;21042876;21186937;21338323;21498783;21504868;22166756;22493722;22982310;23576171;23907381;23940618;24848981;2537200;25418920;25790476;26154972;26992070;27862975;28123934;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29437277;29493099;29500454;29557506;30315122;30410026;31150775;31154438;31217245;31427606;31844290;32357974;32387766;32488085;32983136;33298915;33329381;33445064;33502468;33633747;33758172;33912179;33968037;34561969;35051231;35580925;37149695;37361522;8506334;8521497;8521498;8812477;9065481;9171241;9417067;9636039;9744270", "class_list": "", "function": "Dietary fat content and adipose triglyceride lipase and hormone-sensitive lipase gene expressions in adults' subcutaneous and visceral fat tissues., [RefSeq, PubMed]; Entorhinal cortex epigenome-wide association study highlights four novel loci showing differential methylation in Alzheimer's disease. Publication Status: Online-Only, [RefSeq, PubMed]; HSL regulates vitamin A metabolism in quiescent hepatic stellate cells., [RefSeq, PubMed]; Habitual nappers and non-nappers differ in circadian rhythms of LIPE expression in abdominal adipose tissue explants. Publication Status: Online-Only, [RefSeq, PubMed]; Lipase with broad substrate specificity, catalyzing the hydrolysis of triacylglycerols (TAGs), diacylglycerols (DAGs), monoacylglycerols (MAGs), cholesteryl esters and retinyl esters (PubMed:15716583, PubMed:15955102, PubMed:19800417, PubMed:8812477). Shows a preferential hydrolysis of DAGs over TAGs and MAGs and preferentially hydrolyzes the fatty acid (FA) esters at the sn-3 position of the glycerol backbone in DAGs (PubMed:19800417). Preferentially hydrolyzes FA esters at the sn-1 and sn-2 positions of the glycerol backbone in TAGs (By similarity). Catalyzes the hydrolysis of 2-arachidonoylglycerol, an endocannabinoid and of 2-acetyl monoalkylglycerol ether, the penultimate precursor of the pathway for de novo synthesis of platelet-activating factor (By similarity). In adipose tissue and heart, it primarily hydrolyzes stored triglycerides to free fatty acids, while in steroidogenic tissues, it principally converts cholesteryl esters to free cholesterol for steroid hormone production (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene has a long and a short form, generated by use of alternative translational start codons. The long form is expressed in steroidogenic tissues such as testis, where it converts cholesteryl esters to free cholesterol for steroid hormone production. The short form is expressed in adipose tissue, among others, where it hydrolyzes stored triglycerides to free fatty acids. [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": 19, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "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": "Q3LRT2;Q6NSL7", "ec_number_list": "3.5.1.99;3.1.1.-;3.1.1.1;3.1.1.56;3.1.1.84;2.1.1.364;1.14.11.68;2.3.1.20;2.3.1.76;3.1.1.3;3.1.1.23;3.1.-.-;3.1.1.32;3.1.1.34;3.3.2.9;3.1.1.79;3.1.1.6;3.1.1.5;2.7.11.11;3.1.1.13;3.1.1.4;2.7.11.22;2.7.11.23;3.1.1.26;2.3.1.48;2.3.1.-;3.1.1.71;3.1.1.116;3.1.1.111;2.3.1.51", "go_molecular_function": "GO:0004771 sterol ester esterase activity;GO:0047372 monoacylglycerol lipase activity;GO:0004806 triacylglycerol lipase activity;GO:0050253 retinyl-palmitate esterase activity;GO:0047376 all-trans-retinyl-palmitate hydrolase, all-trans-retinol forming activity", "go_cellular_component": "GO:0005811 lipid droplet;GO:0005829 cytosol;GO:0016020 membrane;GO:0005901 caveola", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0008203 cholesterol metabolic process;GO:0016042 lipid catabolic process;GO:0046340 diacylglycerol catabolic process;GO:0019433 triglyceride catabolic process", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "Q05469-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43708-1", "uniprot_id": "MAAI_HUMAN", "mass": 24212.0, "length": 216, "protein_name": "Maleylacetoacetate isomerase", "gene_name": "GSTZ1", "organism": "Human", "refseq_name": "maleylacetoacetate isomerase isoform 3", "refseq_ac": "NP_001299589", "gene_names_uniprotkb": "GSTZ1; MAAI", "gene_names_refseq": "GSTZ1-1; GSTZ1; MAAID; MAAI; MAI", "protein_names_uniprotkb": "Maleylacetoacetate isomerase; 2.5.1.18; 5.2.1.2; GSTZ1-1; Glutathione S-transferase zeta 1; MAAI", "protein_names_refseq": "S-(hydroxyalkyl)glutathione lyase; glutathione S-alkyltransferase; glutathione S-aralkyltransferase; glutathione S-aryltransferase; glutathione transferase zeta 1; maleylacetoacetate isomerase isoform 3; maleylacetoacetate isomerase; maleylacetone isomerase", "tax_id": 9606, "disease": "maleylacetoacetate isomerase deficiency (MONDO:MONDO:0060527)", "pathway": " (hsa:2954); (R-HSA-156590); (R-HSA-204174); (R-HSA-8963684)", "pathway_count": 4, "publication_count": 74, "publication_id_list": "10329152;10373324;10587441;10739172;10783391;10876237;10942115;11237011;11327815;11485553;11486000;11904223;12042665;12211029;12627223;14742434;15855260;16081649;16298388;16548513;16640556;17532339;17544412;19608861;19833728;20083122;20085333;20884751;21106529;21153519;21668448;22522127;23162467;25525879;27876694;28904123;29557506;29632046;31092671;31844290;32357971;32488085;3372534;33931597;34047349;35051231;36905252;3770744;37742772;37794595;4768551;5487549;7499431;8182750;8203914;8331657;8364576;8431482;8703034;8782815;8798399;8812420;9278457;9395502;9396740;9405293;9417084;9531472;9551553;9651365;9710704;9815194;9839448;9925947", "class_list": "", "function": "Age-Related Changes in miRNA Expression Influence GSTZ1 and Other Drug Metabolizing Enzymes., [RefSeq, PubMed]; Bifunctional enzyme showing minimal glutathione-conjugating activity with ethacrynic acid and 7-chloro-4-nitrobenz-2-oxa-1,3-diazole and maleylacetoacetate isomerase activity. Also has low glutathione peroxidase activity with T-butyl and cumene hydroperoxides. Is able to catalyze the glutathione dependent oxygenation of dichloroacetic acid to glyoxylic acid., [UniProtKB, PubMed]; Clinical physiology and pharmacology of GSTZ1/MAAI. Review article, [RefSeq, PubMed]; GSTZ1 sensitizes hepatocellular carcinoma cells to sorafenib-induced ferroptosis via inhibition of NRF2/GPX4 axis. Publication Status: Online-Only, [RefSeq, PubMed]; Glutathione S-transferase zeta 1 alters the HMGB1/GPX4 axis to drive ferroptosis in bladder cancer cells., [RefSeq, PubMed]; This gene is a member of the glutathione S-transferase (GSTs) super-family which encodes multifunctional enzymes important in the detoxification of electrophilic molecules, including carcinogens, mutagens, and several therapeutic drugs, by conjugation with glutathione. This enzyme catalyzes the conversion of maleylacetoacetate to fumarylacetoacatate, which is one of the steps in the phenylalanine/tyrosine degradation pathway. Deficiency of a similar gene in mouse causes oxidative stress. Several transcript variants of this gene encode multiple protein isoforms. [provided by RefSeq, Jul 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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NED0;A6NNB8;A8MWD7;B2RCK3;O15308;O75430;Q6IB17;Q7Z610;Q9BV63", "ec_number_list": "2.5.1.18;5.2.1.2;5.3.99.2;1.11.1.-;5.3.3.-;1.20.4.2;1.8.5.1;4.4.1.20", "go_molecular_function": "GO:0004364 glutathione transferase activity;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0016034 maleylacetoacetate isomerase activity;GO:0004602 glutathione peroxidase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005829 cytosol;GO:0005737 cytoplasm", "go_biological_process": "GO:0006559 L-phenylalanine catabolic process;GO:0006572 L-tyrosine catabolic process;GO:0006749 glutathione metabolic process;GO:1990748 cellular detoxification", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "O43708-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6UWM7-1", "uniprot_id": "LCTL_HUMAN", "mass": 65088.0, "length": 567, "protein_name": "Lactase-like protein", "gene_name": "LCTL", "organism": "Human", "refseq_name": "lactase-like protein isoform 2", "refseq_ac": "NP_001265491", "gene_names_uniprotkb": "LCTL; KLPH; PRO9820", "gene_names_refseq": "KLG; KLPH; LCTL", "protein_names_uniprotkb": "Lactase-like protein; Klotho/lactase-phlorizin hydrolase-related protein", "protein_names_refseq": "KL lactase phlorizin hydrolase; gammaklotho; klotho gamma; klotho/lactase-phlorizin hydrolase-related protein; lactase-like protein isoform 2; lactase-like protein", "tax_id": 9606, "disease": "kidney disease (Disease Ontology:DOID:557)", "pathway": " (hsa:197021)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;12084582;12975309;15340161;31844290;32157095;33392160;36010968", "class_list": "glycogene;glycosylhydrolase", "function": "Plays a role in formation of the lens suture in the eye, which is important for normal optical properties of the lens., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The authors identified and cloned the mouse lactase-like gene (also known as Lctl, Klph). It is a member of the family 1 glycosidases but lacks one of the conserved glutamic acid residues important for catalysis. Its function remains to be determined., [RefSeq, PubMed]; This gene encodes a member of family 1 glycosidases. Glycosidases are enzymes that hydrolyze glycosidic bonds and are classified into families based on primary amino acid sequence. Most members of family 1 have two conserved glutamic acid residues, which are required for enzymatic activity. The mouse ortholog of this protein has been characterized and has a domain structure of an N-terminal signal peptide, glycosidase domain, transmembrane domain, and a short cytoplasmic tail. It lacks one of the conserved glutamic acid residues important for catalysis, and its function remains to be determined (PMID: 12084582). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 735, "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": "B3KQY0", "ec_number_list": "", "go_molecular_function": "GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds", "go_cellular_component": "GO:0005903 brush border;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0005975 carbohydrate metabolic process;GO:0007601 visual perception;GO:0002089 lens morphogenesis in camera-type eye", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q6UWM7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99571-1", "uniprot_id": "P2RX4_HUMAN", "mass": 43369.0, "length": 388, "protein_name": "P2X purinoceptor 4", "gene_name": "P2RX4", "organism": "Human", "refseq_name": "P2X purinoceptor 4 isoform 1", "refseq_ac": "NP_001243725", "gene_names_uniprotkb": "P2RX4", "gene_names_refseq": "P2RX4; P2X4R; P2X4", "protein_names_uniprotkb": "P2X purinoceptor 4; ATP receptor; P2X4; Purinergic receptor", "protein_names_refseq": "ATP receptor; ATP-gated cation channel protein; P2X purinoceptor 4 isoform 1; P2X purinoceptor 4; P2X receptor, subunit 4; purinergic receptor P2X, ligand gated ion channel, 4; purinergic receptor P2X4; purinoceptor P2X4", "tax_id": 9606, "disease": "congestive heart failure (Disease Ontology:DOID:6000)", "pathway": " (hsa:5025); (R-HSA-139853); (R-HSA-418346); (R-HSA-9660826)", "pathway_count": 4, "publication_count": 56, "publication_id_list": "10.1101/2023.09.13.557529;10228183;10515189;11237011;11313357;11805119;12907444;19159218;21882811;22068874;23303206;23817414;23878142;24190977;2457808;24817123;25707358;26116704;26154972;26456657;26992070;27846572;27920218;28326637;28649982;29242379;29317506;29393594;29557506;29741879;31844290;32157095;32350084;32357974;32387766;32938616;32983136;33298915;33912179;34357683;34433824;34509645;34725712;35051231;35165166;35352488;35676684;36385525;37074911;37166584;38740782;8646775;9016352;9494101;9565569;9930701", "class_list": "", "function": "ATP-gated nonselective transmembrane cation channel permeable to potassium, sodium and calcium (PubMed:9016352). CTP, but not GTP or UTP, functions as a weak affinity agonist for P2RX4 (By similarity). Activated by extracellularly released ATP, it plays multiple role in immunity and central nervous system physiology (PubMed:35165166). Plays a key role in initial steps of T-cell activation and Ca(2+) microdomain formation (By similarity). Also participates in basal T-cell activity without TCR/CD3 stimulation (By similarity). Promotes the differentiation and activation of Th17 cells via expression of retinoic acid-related orphan receptor C/RORC (PubMed:35165166). Upon activation, drives microglia motility via the PI3K/Akt pathway (By similarity). Could also function as an ATP-gated cation channel of lysosomal membranes (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed]; Activation of P2X4 receptor exacerbates acute brain injury after intracerebral hemorrhage., [RefSeq, PubMed]; Blocking P2X purinoceptor 4 signalling alleviates cigarette smoke induced pulmonary inflammation. Publication Status: Online-Only, [RefSeq, PubMed]; Colon tumour cell death causes mTOR dependence by paracrine P2X4 stimulation., [RefSeq, PubMed]; Expression in skin biopsies supports genetic evidence linking CAMKK2, P2X7R and P2X4R with HIV-associated sensory neuropathy., [RefSeq, PubMed]; P2X7R and P2X4R expression of mice submandibular gland in high-fat diet/streptozotocin-induced type 2 diabetes. Publication Status: Online-Only, [RefSeq, PubMed]; The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel with high calcium permeability. The main pharmacological distinction between the members of the purinoceptor family is the relative sensitivity to the antagonists suramin and PPADS. The product of this gene has the lowest sensitivity for these antagonists. Multiple alternatively spliced transcript variants, some protein-coding and some not protein-coding, 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": 6, "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": 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": 1, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 66, "disease_count": 1, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "E7EPF7;F6RU17;O00450;O14722;Q5U089;Q5U090;Q8N4N1;Q9UBG9", "ec_number_list": "2.7.11.1;1.8.-.-", "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030054 cell junction;GO:0048471 perinuclear region of cytoplasm;GO:0070062 extracellular exosome", "go_biological_process": "GO:1904141 positive regulation of microglial cell migration;GO:2001028 positive regulation of endothelial cell chemotaxis;GO:0050975 sensory perception of touch;GO:0002931 response to ischemia;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 13.1, "record_id": "Q99571-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q969R2-1", "uniprot_id": "OSBP2_HUMAN", "mass": 101266.0, "length": 916, "protein_name": "Oxysterol-binding protein 2", "gene_name": "OSBP2", "organism": "Human", "refseq_name": "oxysterol-binding protein 2 isoform c", "refseq_ac": "NP_001269667", "gene_names_uniprotkb": "OSBP2; KIAA1664; ORP4; OSBPL4", "gene_names_refseq": "HLM; ORP-4; ORP2; ORP4; OSBP2; OSBPL1; OSBPL4", "protein_names_uniprotkb": "Oxysterol-binding protein 2; ORP-4; ORP2; OSBP-related protein 4; Oxysterol-binding protein-related protein 4", "protein_names_refseq": "OSBP-related protein 4; oxysterol binding protein-like 1; oxysterol-binding protein 2 isoform c; oxysterol-binding protein-related protein 4", "tax_id": 9606, "disease": "cholangiocarcinoma (Disease Ontology:DOID:4947)", "pathway": " (hsa:23762)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "11237011;11258795;11278871;11483621;18477386;19615748;19651622;20068231;20112406;23186163;25576301;28510447;29393594;29557506;30581148;31648575;31844290;32914503;32938616;33592498;33633747;33968037;33981976;34797912;35051231;37903971", "class_list": "", "function": "Integrated analysis of histone lysine lactylation (Kla)-specific genes suggests that NR6A1, OSBP2 and UNC119B are novel therapeutic targets for hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Mediates the bidirectional lipid exchange between intracellular compartments and the plasma membrane, delivering cholesterol to the plasma membrane while transferring PI(4,5)P(2) to internal organelles, thereby modulating membrane lipid composition and associated signaling pathways (PubMed:30581148, PubMed:32914503). Binds 7-ketocholesterol (PubMed:11278871). Acts during spermatid development where its function is required prior to the removal of cytoplasm from the sperm head (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; ORP4L is a cofactor of ITPR1., [RefSeq, PubMed]; ORP4L is a prerequisite for the induction of T-cell leukemogenesis associated with human T-cell leukemia virus 1., [RefSeq, PubMed]; The protein encoded by this gene contains a pleckstrin homology (PH) domain and an oxysterol-binding region. It binds oxysterols such as 7-ketocholesterol and may inhibit their cytotoxicity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 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": 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": 16, "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": "B0QYG1;B4DK24;B4DKE4;B4DTR3;F5H2A3;O60396;Q0VF99;Q8NA37;Q9BY96;Q9BZF0", "ec_number_list": "", "go_molecular_function": "GO:0015485 cholesterol binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0097038 perinuclear endoplasmic reticulum;GO:0001669 acrosomal vesicle;GO:0097440 apical dendrite", "go_biological_process": "GO:0006869 lipid transport;GO:0007286 spermatid development;GO:0120009 intermembrane lipid transfer", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q969R2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96HS1-1", "uniprot_id": "PGAM5_HUMAN", "mass": 32004.0, "length": 289, "protein_name": "Serine/threonine-protein phosphatase PGAM5, mitochondrial", "gene_name": "PGAM5", "organism": "Human", "refseq_name": "serine/threonine-protein phosphatase PGAM5, mitochondrial isoform 1", "refseq_ac": "NP_001164014", "gene_names_uniprotkb": "PGAM5", "gene_names_refseq": "BXLBV68; PGAM5", "protein_names_uniprotkb": "Serine/threonine-protein phosphatase PGAM5, mitochondrial; 3.1.3.16; Bcl-XL-binding protein v68; Phosphoglycerate mutase family member 5", "protein_names_refseq": "Bcl-XL-binding protein v68; PGAM family member 5, serine/threonine protein phosphatase, mitochondrial; phosphoglycerate mutase family member 5; serine/threonine-protein phosphatase PGAM5, mitochondrial isoform 1; serine/threonine-protein phosphatase PGAM5, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:192111)", "pathway_count": 1, "publication_count": 62, "publication_id_list": "11237011;11283018;17046835;18387606;19590015;19608861;21406692;22265414;22915595;23186163;23301498;24714562;24715725;24746696;25502872;25576301;26154972;26375851;26811146;26992070;27543614;28228285;28510447;28832583;29393594;29437277;29493099;29632711;29786170;30315122;30429286;30444036;31844290;32157095;32439975;32502341;32983136;33141586;33298915;33717175;33912179;33936100;33968037;33981976;34211107;34229054;34357683;35051231;35083852;35154160;35251023;36241641;37217939;37498743;37580952;38058078;38331384;38433252;38665916;38818468;40914422;41535474", "class_list": "", "function": "Mitochondrial serine/threonine phosphatase that dephosphorylates various substrates and thus plays a role in different biological processes including cellular senescence or mitophagy (PubMed:24746696, PubMed:32439975). Modulates cellular senescence by regulating mitochondrial dynamics. Mechanistically, participates in mitochondrial fission through dephosphorylating DNM1L/DRP1 (PubMed:32439975). Additionally, dephosphorylates MFN2 in a stress-sensitive manner and consequently protects it from ubiquitination and degradation to promote mitochondrial network formation (PubMed:37498743). Regulates mitophagy independent of PARKIN by interacting with and dephosphorylating FUNDC1, which interacts with LC3 (PubMed:24746696). Regulates anti-oxidative response by forming a tertiary complex with KEAP1 and NRF2 (PubMed:18387606). Regulates necroptosis by acting as a RIPK3 target and recruiting the RIPK1-RIPK3-MLKL necrosis 'attack' complex to mitochondria (PubMed:22265414)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; PGAM5 deacetylation mediated by SIRT2 facilitates lipid metabolism and liver cancer proliferation., [RefSeq, PubMed]; Pgam5 aggravates hyperglycemia-induced myocardial dysfunction through disrupting Phb2-dependent mitochondrial dynamics. Publication Status: Online-Only, [RefSeq, PubMed]; Targeted knockdown of PGAM5 in synovial macrophages efficiently alleviates osteoarthritis. Publication Status: Online-Only, [RefSeq, PubMed]; The Effect of PGAM5 on Regulating Mitochondrial Dysfunction in Ischemic Stroke., [RefSeq, PubMed]; The N terminus of the PGAM5 protein contains a conserved NXESGE motif that binds to the substrate binding pocket in the Kelch domain of Keap1., [RefSeq, PubMed]; ZBP1 promotes hepatocyte pyroptosis in acute liver injury by regulating the PGAM5/ROS 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": 2, "reported_mutagensis": 4, "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": "A9LN06;C9IZY7;Q96JB0", "ec_number_list": "3.1.3.16;3.1.3.48;3.1.3.-;3.1.3.67;3.1.3.53;3.1.3.52;3.1.3.27;3.1.3.86;3.1.3.36;3.1.3.74", "go_molecular_function": "GO:0004722 protein serine/threonine phosphatase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0016236 macroautophagy;GO:0090141 positive regulation of mitochondrial fission;GO:0070266 necroptotic process;GO:0120163 negative regulation of cold-induced thermogenesis;GO:0012501 programmed cell death", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q96HS1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15404-1", "uniprot_id": "RSU1_HUMAN", "mass": 31540.0, "length": 277, "protein_name": "Ras suppressor protein 1", "gene_name": "RSU1", "organism": "Human", "refseq_name": "ras suppressor protein 1 isoform 1", "refseq_ac": "NP_036557", "gene_names_uniprotkb": "RSU1; RSP1", "gene_names_refseq": "RSP-1; RSU1", "protein_names_uniprotkb": "Ras suppressor protein 1; RSP-1; Rsu-1", "protein_names_refseq": "ras suppressor protein 1 isoform 1; rsu-1", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:6251); (R-HSA-446388)", "pathway_count": 2, "publication_count": 78, "publication_id_list": "12499396;12665801;15005707;15159419;15242332;15817463;18436335;20068231;22424782;23481700;24366607;24715725;25505266;25576301;25892735;26154972;26375851;26992070;27600516;27846572;27862975;28228285;28510447;28904123;29242379;29493099;29557506;29786170;30429286;30833945;31154438;31530632;31844290;31848261;31937595;31998317;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;34019948;34185709;34211107;34357683;34509645;34561969;34932366;35051231;35154160;35318648;35561310;35580925;35642986;35729367;36010968;36241641;36284347;36375714;36581221;37938771;38312030;38665916;40914422;8288261", "class_list": "", "function": "CircRSU1 alleviates LPS-induced human pulmonary microvascular endothelial cell injury by targeting miR-1224-5p/ITGA5 axis., [RefSeq, PubMed]; Focal adhesion proteins in hepatocellular carcinoma: RSU1 a novel tumour suppressor with prognostic significance., [RefSeq, PubMed]; Potentially plays a role in the Ras signal transduction pathway. Capable of suppressing v-Ras transformation in vitro., [UniProtKB]; Ras suppressor 1 long form (RSU1L) silencing promotes apoptosis in invasive breast cancer cells., [RefSeq, PubMed]; Ras suppressor-1 (RSU1) exerts a tumor suppressive role with prognostic significance in lung adenocarcinoma., [RefSeq, PubMed]; This gene encodes a protein that is involved in the Ras signal transduction pathway, growth inhibition, and nerve-growth factor induced differentiation processes, as determined in mouse and human cell line studies. In mouse, the encoded protein was initially isolated based on its ability to inhibit v-Ras transformation. Multiple alternatively spliced transcript variants for this gene have been reported; one of these variants was found only in glioma tumors. [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": 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": "A8KA46;D3DRU3;Q6FI17", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0005925 focal adhesion;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007165 signal transduction;GO:0007160 cell-matrix adhesion;GO:0007265 Ras protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q15404-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZNE9-2", "uniprot_id": "RUFY4_HUMAN", "mass": 64350.0, "length": 571, "protein_name": "RUN and FYVE domain-containing protein 4", "gene_name": "RUFY4", "organism": "Human", "refseq_name": "RUN and FYVE domain-containing protein 4", "refseq_ac": "NP_940885", "gene_names_uniprotkb": "RUFY4", "gene_names_refseq": "RUFY4; ZFYVE31", "protein_names_uniprotkb": "RUN and FYVE domain-containing protein 4", "protein_names_refseq": "RUN and FYVE domain-containing protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:285180)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "24715725;26416964;32983136;33592498;35051231;35314674;36215666", "class_list": "", "function": "ARL8 effector that promotes the coupling of endolysosomes to dynein-dynactin for retrograde transport along microtubules. Acts by binding both GTP-bound ARL8 and dynein-dynactin. In nonneuronal cells, promotes concentration of endolysosomes in the juxtanuclear area. In hippocampal neurons, drives retrograde transport of endolysosomes from the axon to the soma (PubMed:35314674). Positive regulator of macroautophagy in dendritic cells. Increases autophagic flux, probably by stimulating both autophagosome formation and facilitating tethering with lysosomes. Binds to phosphatidylinositol 3-phosphate (PtdIns3P) through its FYVE-type zinc finger (PubMed:26416964). Positive regulator of osteoclast bone-resorbing activity, possibly by promoting late endosome-lysosome fusion by acting as an adapter protein between RAB7A on late endosomes and LAMP2 on primary lysosomes (By similarity)., [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": 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": "Q6ZR96", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0032266 phosphatidylinositol-3-phosphate binding;GO:0034452 dynactin binding", "go_cellular_component": "GO:0005776 autophagosome;GO:0036019 endolysosome", "go_biological_process": "GO:0061763 multivesicular body-lysosome fusion;GO:0000045 autophagosome assembly;GO:0045780 positive regulation of bone resorption;GO:0016239 positive regulation of macroautophagy;GO:0071353 cellular response to interleukin-4", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q6ZNE9-2", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HB63-1", "uniprot_id": "NET4_HUMAN", "mass": 70071.0, "length": 628, "protein_name": "Netrin-4", "gene_name": "NTN4", "organism": "Human", "refseq_name": "netrin-4 isoform 2 precursor", "refseq_ac": "NP_001316629", "gene_names_uniprotkb": "NTN4", "gene_names_refseq": "NTN4; PRO3091", "protein_names_uniprotkb": "Netrin-4; Beta-netrin; Hepar-derived netrin-like protein", "protein_names_refseq": "beta-netrin; hepar-derived netrin-like protein; netrin-4 isoform 2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:59277); (R-HSA-3000171); (R-HSA-373752)", "pathway_count": 3, "publication_count": 21, "publication_id_list": "10.1101/2023.09.13.557529;11038171;11237011;11847221;12154370;16762451;16806867;17174565;17545519;18719102;25288737;29557506;33968037;35051231;36350538;37074911;37800632;38156865;9659899;9659900;9858595", "class_list": "", "function": "Hepatic Expression of NTN4 and Its Receptors in Patients with Hepatocellular Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Knockdown of Netrin-4 expression in EC increased their ability to form tubular structures; Netrin-4 bound only to neogenin but not to Unc5B or Unc5C receptors, [RefSeq, PubMed]; May play an important role in neural, kidney and vascular development. Promotes neurite elongation from olfactory bulb explants., [UniProtKB, PubMed]; NTN4 acts as a positive regulator for TC axon branching through activity-dependent expression, [RefSeq, PubMed]; NTN4, TRA1, and STC2 have roles in progression of breast cancer, [RefSeq, PubMed]; Netrin-4: Focus on Its Role in Axon Guidance, Tissue Stability, Angiogenesis and Tumors. Review article, [RefSeq, PubMed]; RNA-binding protein quaking 5 inhibits the progression of non-small cell lung cancer by upregulating netrin-4 expression., [RefSeq, PubMed]; This gene encodes a member of the netrin family of proteins, which function in various biological processes including axon guidance, tumorogenesis, and angiogenesis. Netrins are laminin-related proteins that have an N-terminal laminin-type domain, epidermal growth factor-like repeat domain, and a positively charged heparin-binding domain at the C-terminus. The protein encoded by this gene is involved in processes including neurite growth and migration, angiogenesis and mural cell adhesion to endothelial cells. Alternative splicing results in multiple transcript variants. [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": 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": 26, "reported_interactions": 0, "missing_score": 9393, "biomarker_type": "", "glycan_count": 22, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B2RNC2;Q658K9;Q7L3F1;Q7L9D6;Q7Z5B6;Q9BZP1;Q9NT44;Q9P133", "ec_number_list": "", "go_molecular_function": "GO:0043237 laminin-1 binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043256 laminin complex", "go_biological_process": "GO:0016477 cell migration;GO:0009887 animal organ morphogenesis;GO:0034446 substrate adhesion-dependent cell spreading;GO:0007411 axon guidance;GO:0009888 tissue development", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q9HB63-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P36776-1", "uniprot_id": "LONM_HUMAN", "mass": 106489.0, "length": 959, "protein_name": "Lon protease homolog, mitochondrial", "gene_name": "LONP1", "organism": "Human", "refseq_name": "lon protease homolog, mitochondrial isoform 2", "refseq_ac": "NP_001263408", "gene_names_uniprotkb": "LONP1; Lon; PRSS15", "gene_names_refseq": "CODASS; LONP1; LONP; LON; LonHS; PIM1; PRSS15; hLON", "protein_names_uniprotkb": "Lon protease homolog, mitochondrial; 3.4.21.53; 3.6.4.10; LONHs; LONP; Lon protease-like protein; Mitochondrial ATP-dependent protease Lon; Mitochondrial chaperone LONP1; Serine protease 15", "protein_names_refseq": "hLON ATP-dependent protease; lon protease homolog, mitochondrial isoform 2; lon protease homolog, mitochondrial; mitochondrial ATP-dependent protease Lon; mitochondrial lon protease-like protein; serine protease 15", "tax_id": 9606, "disease": "CODAS syndrome (Disease Ontology:DOID:0111274); brain ischemia (Disease Ontology:DOID:2316); ischemia (Disease Ontology:DOID:326)", "pathway": " (hsa:9361); (R-HSA-9837999); (R-HSA-9841251)", "pathway_count": 3, "publication_count": 122, "publication_id_list": "11139588;11237011;11923310;12198491;14623864;14739292;15522782;15870080;16115876;17101804;17297443;17420247;17579211;19841671;20068231;20222013;20843780;22262461;22710082;23201127;23481700;23665396;23931759;24315374;24520911;24714562;24715725;25369343;25418920;25574826;25576301;25645385;25802875;25808063;26375851;26504172;26728094;26923599;26992070;27426517;27452731;27496948;27632940;27642048;27846572;28218747;28228285;28377575;28396416;28510447;28832583;28834231;28904123;29242379;29301859;29393594;29493099;29557506;29932645;30120231;30315122;30379171;30524438;31154438;31217245;31222486;31327635;31406245;31530632;31611695;31695197;31844290;32157095;32302062;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33257573;33298915;33392160;33431889;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34211107;34357683;34509645;34704252;34932366;34943861;35051231;35083852;35494241;35580925;35870450;36215666;36241641;36629048;37217939;37327776;37647804;37938771;38091289;38665916;38688959;39261902;40914422;7623837;7961901;8119403;8248235;8455624;9485316", "class_list": "", "function": "ATP-dependent serine protease that mediates the selective degradation of misfolded, unassembled or oxidatively damaged polypeptides as well as certain short-lived regulatory proteins in the mitochondrial matrix. May also have a chaperone function in the assembly of inner membrane protein complexes. Participates in the regulation of mitochondrial gene expression and in the maintenance of the integrity of the mitochondrial genome. Binds to mitochondrial promoters and RNA in a single-stranded, site-specific, and strand-specific manner. May regulate mitochondrial DNA replication and/or gene expression using site-specific, single-stranded DNA binding to target the degradation of regulatory proteins binding to adjacent sites in mitochondrial promoters., [UniProtKB, HAMAP, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Intraneuronal beta-amyloid impaired mitochondrial proteostasis through the impact on LONP1., [RefSeq, PubMed]; LONP1 alleviates ageing-related renal fibrosis by maintaining mitochondrial homeostasis., [RefSeq, PubMed]; Mitochondrial oxidative stress regulates LonP1-TDP-43 pathway and rises mitochondrial damage in carbon tetrachloride-induced liver fibrosis., [RefSeq, PubMed]; This gene encodes a mitochondrial matrix protein that belongs to the Lon family of ATP-dependent proteases. This protein mediates the selective degradation of misfolded, unassembled or oxidatively damaged polypeptides in the mitochondrial matrix. It may also have a chaperone function in the assembly of inner membrane protein complexes, and participate in the regulation of mitochondrial gene expression and maintenance of the integrity of the mitochondrial genome. Decreased expression of this gene has been noted in a patient with hereditary spastic paraplegia (PMID:18378094). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 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": 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": 18, "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": "B3KPH8;D6W635;E5KMH8;F5GZ27;P36777;Q8N8K8;Q9UQ95", "ec_number_list": "5.6.2.4;3.6.1.-;3.6.4.-;3.6.4.13;3.6.4.6;3.6.1.5;2.3.3.1;2.7.7.7;2.7.7.49;3.6.4.10;1.4.1.3;1.2.1.3;6.4.1.3;3.1.3.1;3.9.1.1;7.1.2.2;4.2.1.2;5.6.1.7;1.2.4.1;2.3.1.168;2.3.1.-;4.2.99.18;5.6.1.6;5.6.2.3;4.98.1.1;1.1.1.38;2.3.1.9;3.6.4.12;7.1.1.2;1.2.1.36;1.7.1.-;1.2.1.28;2.1.2.1;3.4.21.53;5.6.2.5;1.1.1.37;5.3.3.8;1.3.8.1;1.3.8.5;3.1.2.2;3.1.-.-;2.3.3.10;2.8.3.5;3.6.5.-;7.6.2.1;3.5.3.1;1.2.4.2;5.3.3.21;2.3.2.27;2.7.11.2;2.7.11.-;1.1.1.35;2.7.1.23;7.2.2.-;5.6.2.-;2.3.2.-;1.1.98.-;2.7.11.1;3.6.1.15;3.1.4.-;3.6.-.-;3.4.24.-;1.1.1.62;1.1.1.239;1.1.1.178;1.1.1.53;1.1.1.159;4.2.1.3;3.1.13.1;5.6.2.6;3.4.-.-;6.1.1.5;2.3.1.41;2.7.4.3", "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0016887 ATP hydrolysis activity;GO:0043531 ADP binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0016020 membrane;GO:0042645 mitochondrial nucleoid", "go_biological_process": "GO:0001666 response to hypoxia;GO:0034599 cellular response to oxidative stress;GO:0009725 response to hormone;GO:0010044 response to aluminum ion;GO:0007005 mitochondrion organization", "synthesized_glycan_count": 0, "hit_score": 12.5, "record_id": "P36776-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15102-1", "uniprot_id": "PA1B3_HUMAN", "mass": 25734.0, "length": 231, "protein_name": "Platelet-activating factor acetylhydrolase IB subunit alpha1", "gene_name": "PAFAH1B3", "organism": "Human", "refseq_name": "platelet-activating factor acetylhydrolase IB subunit alpha1", "refseq_ac": "NP_001139411", "gene_names_uniprotkb": "PAFAH1B3; PAFAHG", "gene_names_refseq": "PAFAH1B3; PAFAHG", "protein_names_uniprotkb": "Platelet-activating factor acetylhydrolase IB subunit alpha1; 3.1.1.47; PAF acetylhydrolase 29 kDa subunit; PAF-AH 29 kDa subunit; PAF-AH subunit gamma; PAFAH subunit gamma", "protein_names_refseq": "PAF acetylhydrolase 29 kDa subunit; PAF-AH 29 kDa subunit; PAF-AH subunit gamma; PAF-AH1b alpha 1 subunit; PAFAH subunit gamma; epididymis secretory sperm binding protein; platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa); platelet-activating factor acetylhydrolase IB subunit alpha1; platelet-activating factor acetylhydrolase IB subunit gamma", "tax_id": 9606, "disease": "", "pathway": " (hsa:5050); (R-HSA-6811436)", "pathway_count": 2, "publication_count": 56, "publication_id_list": "10359595;10559986;10562278;11080672;11237011;11483508;12401177;12432908;12447383;12925777;15483056;15914536;16207721;16314391;17488286;17827179;18641641;18664496;19635840;19753100;20420828;21173190;22130221;22223895;22562055;23186163;23333653;23783758;24891604;25233431;25453831;26992070;28832583;29242379;31844290;32157095;32357974;33298915;33912179;33968037;33981976;34019948;34185709;34357683;34725712;35138101;36241641;37096518;37102492;38649699;38665916;7669037;9030515;9050864;9671731;9733780", "class_list": "", "function": "Alpha1 catalytic subunit of the cytosolic type I platelet-activating factor (PAF) acetylhydrolase (PAF-AH (I)) heterotetrameric enzyme that catalyzes the hydrolyze of the acetyl group at the sn-2 position of PAF and its analogs and modulates the action of PAF. The activity and substrate specificity of PAF-AH (I) are affected by its subunit composition. Both alpha1/alpha1 homodimer (PAFAH1B3/PAFAH1B3 homodimer) and alpha1/alpha2 heterodimer(PAFAH1B3/PAFAH1B2 heterodimer) hydrolyze 1-O-alkyl-2-acetyl-sn-glycero-3-phosphoric acid (AAGPA) more efficiently than PAF, but they have little hydrolytic activity towards 1-O-alkyl-2-acetyl-sn-glycero-3-phosphorylethanolamine (AAGPE). Plays an important role during the development of brain., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; PAFAH1B3 Regulates Papillary Thyroid Carcinoma Cell Proliferation and Metastasis by Affecting the EMT., [RefSeq, PubMed]; PAFAH1B3 is a KLF9 target gene that promotes proliferation and metastasis in pancreatic cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an acetylhydrolase that catalyzes the removal of an acetyl group from the glycerol backbone of platelet-activating factor. The encoded enzyme is a subunit of the platelet-activating factor acetylhydrolase isoform 1B complex, which consists of the catalytic beta and gamma subunits and the regulatory alpha subunit. This complex functions in brain development. A translocation between this gene on chromosome 19 and the CDC-like kinase 2 gene on chromosome 1 has been observed, and was associated with cognitive disability, ataxia, and atrophy of the brain. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]., [RefSeq]; [Correlation between PAFAH1B3 Expression Level and Risk of Disease Progression After Autologous Hematopoietic Stem Cell Transplantation in Multiple Myeloma 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": 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": "Q53X88", "ec_number_list": "3.1.1.4;3.1.2.2;3.1.1.5;2.3.1.43;3.1.1.47;3.1.-.-;3.5.1.1;3.1.1.32;2.3.1.149", "go_molecular_function": "GO:0047179 platelet-activating factor acetyltransferase activity;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity;GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0008247 1-alkyl-2-acetylglycerophosphocholine esterase complex", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0007283 spermatogenesis;GO:0007399 nervous system development;GO:0062234 platelet activating factor catabolic process;GO:0016042 lipid catabolic process", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q15102-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NG48-1", "uniprot_id": "LINES_HUMAN", "mass": 85857.0, "length": 757, "protein_name": "Protein Lines homolog 1", "gene_name": "LINS1", "organism": "Human", "refseq_name": "protein Lines homolog 1 isoform 1", "refseq_ac": "NP_001035706", "gene_names_uniprotkb": "LINS1; LINS; WINS1", "gene_names_refseq": "LINS1; LINS; MRT27; WINS1", "protein_names_uniprotkb": "Protein Lines homolog 1; Wnt-signaling molecule Lines homolog 1", "protein_names_refseq": "WINS1 protein with Drosophila Lines (Lin) homologous domain; protein Lines homolog 1 isoform 1; protein Lines homolog 1; wnt-signaling molecule Lines homolog 1", "tax_id": 9606, "disease": "autosomal recessive intellectual developmental disorder 27 (Disease Ontology:DOID:0081193)", "pathway": " (hsa:55180)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "11237011;12119551;21937992;23773660;24397554;25418920;25576301;25880248;26154972;27600516;28063628;28181389;28218747;28228285;28514659;28832583;28904123;29242379;29393594;29437277;29493099;29508533;29632046;29769354;29786170;30315122;31844290;31922598;32157095;32357974;32387766;32502341;32983136;33392160;33968037;33981976;34185709;34450347;34509645;35051231;35580925", "class_list": "", "function": "A novel pathogenic variant of the LINS1 gene has been identified in a child with idiopathic mental retardation, [RefSeq, PubMed]; Human WINS1 encoded 757 AA protein. Human WINS1 mRNA was expressed in adult testis, prostate, spleen, thymus, skeletal muscle, fetal kidney & brain. This is the first report on molecular cloning & initial characterization of human WINS1., [RefSeq, PubMed]; Identification of a novel nonsense homozygous mutation of LINS1 gene in two sisters with intellectual disability, schizophrenia, and anxiety., [RefSeq, PubMed]; Study confirms that LINS, a modulator of the WNT pathway, is an indispensable gene to human cognition and this finding sheds further light on the importance of WNT signaling in human brain development and/or function. Publication Status: Online-Only, [RefSeq, PubMed]; The Drosophila segment polarity gene lin encodes a protein, lines, which plays important roles in development of the epidermis and hindgut. This gene encodes a protein containing a lines-like domain. This gene is located on chromosome 15 and clustered with the gene encoding ankyrin repeat and SOCS box-containing protein 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 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": 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": "Q96FW2;Q9NVQ3", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0050890 cognition", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q8NG48-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P54315-1", "uniprot_id": "LIPR1_HUMAN", "mass": 51848.0, "length": 467, "protein_name": "Inactive pancreatic lipase-related protein 1", "gene_name": "PNLIPRP1", "organism": "Human", "refseq_name": "inactive pancreatic lipase-related protein 1 precursor", "refseq_ac": "NP_001290064", "gene_names_uniprotkb": "PNLIPRP1; PLRP1", "gene_names_refseq": "PLRP1; PNLIPRP1", "protein_names_uniprotkb": "Inactive pancreatic lipase-related protein 1; PL-RP1", "protein_names_refseq": "inactive pancreatic lipase-related protein 1 precursor; inactive pancreatic lipase-related protein 1", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283)", "pathway": " (hsa:5407); (R-HSA-192456)", "pathway_count": 2, "publication_count": 17, "publication_id_list": "10358049;11040182;11237011;1379598;16959974;19824014;2318975;23481700;23918603;24715725;28832583;33592498;35051231;38081381;39137110;7350912;7350913", "class_list": "", "function": "In vitro, it has very low or undetectable lipase activity towards triglycerides, diglycerides, phosphatidylcholine, galactolipids or cholesterol esters (By similarity). Unable to hydrolyze milk fat (in vitro) (PubMed:19824014)., [UniProtKB, PubMed, UniProtKB]; Low PNLIPRP1 expression is associated with pancreatic cancer., [RefSeq, PubMed]; PNLIPRP1 Hypermethylation in Exocrine Pancreas Links Type 2 Diabetes and Cholesterol Metabolism., [RefSeq, PubMed]; Pancreatic lipase and its related proteins: where are we now? 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": 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": "Q68D83;Q68DR6;Q8TAU2;Q9BS82", "ec_number_list": "3.1.1.-;3.1.1.3;3.1.1.32;3.1.1.34;3.1.1.23;3.1.1.79;3.1.1.6;3.1.1.5;3.1.1.13;3.1.1.4;3.1.1.26;3.1.1.116;2.3.1.51", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0008970 phospholipase A1 activity;GO:0004806 triacylglycerol lipase activity;GO:0004465 lipoprotein lipase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0006633 fatty acid biosynthetic process;GO:0034375 high-density lipoprotein particle remodeling;GO:0042632 cholesterol homeostasis;GO:0019433 triglyceride catabolic process;GO:0006629 lipid metabolic process", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "P54315-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92785-1", "uniprot_id": "REQU_HUMAN", "mass": 44155.0, "length": 391, "protein_name": "Zinc finger protein ubi-d4", "gene_name": "DPF2", "organism": "Human", "refseq_name": "zinc finger protein ubi-d4 isoform 1", "refseq_ac": "NP_006259", "gene_names_uniprotkb": "DPF2; BAF45D; REQ; UBID4", "gene_names_refseq": "CSS7; DPF2; REQ; SMARCG2; UBID4; ubi-d4", "protein_names_uniprotkb": "Zinc finger protein ubi-d4; Apoptosis response zinc finger protein; BAF45D; BRG1-associated factor 45D; D4, zinc and double PHD fingers family 2; Protein requiem", "protein_names_refseq": "BAF45D; BRG1-associated factor 45D; D4, zinc and double PHD fingers family 2; apoptosis response zinc finger protein; protein requiem; requiem, apoptosis response zinc finger; zinc finger protein ubi-d4 isoform 1; zinc finger protein ubi-d4", "tax_id": 9606, "disease": "Coffin-Siris syndrome 7 (Disease Ontology:DOID:0112369); alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:5977); (R-HSA-9824585); (R-HSA-9845323); (R-HSA-9933937); (R-HSA-9933946); (R-HSA-9934037)", "pathway_count": 6, "publication_count": 102, "publication_id_list": "10587587;11237011;11532965;11856727;11964381;12062444;12368262;1321344;15302935;1537333;1537334;15543135;15695812;15729346;16303920;17182843;17287340;17640523;17952075;18077418;18212344;18452278;18483556;18669648;18697795;18765789;18812475;19389701;19413330;19651622;19664994;19664995;19690332;19717472;20058876;20068231;20166139;20460684;21406692;21888896;22952240;23186163;23644491;23785148;24267888;25218447;25576301;25755297;25772364;26375851;26601204;26694611;26758079;26811146;26992070;27397612;27600516;27775714;28514659;28533407;28832583;28904123;29242379;29393594;29429572;29493099;29557506;29786170;30379171;30429286;30515787;31844290;32024442;32157095;32265295;32938616;32983136;33100333;33141586;33592498;33912179;33968037;34019948;34087483;34932366;35051231;35580127;35580925;36010968;36284347;37217939;37938771;38359823;38665916;38697389;7813420;8306979;8812431;8921401;9253601;9680388;9758418", "class_list": "", "function": "Authors show that DPF2 interacts with the acetylated tails of both histones 3 and 4 via bipartite binding pockets on the DPF2 surface. Blocking these interactions through targeted mutagenesis of DPF2 abolishes its recruitment to target chromatin regions as well as its ability to prevent myeloid differentiation in vivo., [RefSeq, PubMed]; BAF45D knockdown decreases cell viability, inhibits colony formation, induces cell apoptosis and S-phase arrest in human pancreatic cancer cells., [RefSeq, PubMed]; DPF2-related Coffin-Siris syndrome type 7 in two generations., [RefSeq, PubMed]; De novo variants in DPF2 cause Coffin-Siris syndrome and propose a dominant-negative mechanism of pathogenicity., [RefSeq, PubMed]; Plays an active role in transcriptional regulation by binding modified histones H3 and H4 (PubMed:27775714, PubMed:28533407). Is a negative regulator of myeloid differentiation of hematopoietic progenitor cells (PubMed:28533407). Might also have a role in the development and maturation of lymphoid cells (By similarity). Involved in the regulation of non-canonical NF-kappa-B pathway (PubMed:20460684)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; The protein encoded by this gene is a member of the d4 domain family, characterized by a zinc finger-like structural motif. This protein functions as a transcription factor which is necessary for the apoptotic response following deprivation of survival factors. It likely serves a regulatory role in rapid hematopoietic cell growth and turnover. This gene is considered a candidate gene for multiple endocrine neoplasia type I, an inherited cancer syndrome involving multiple parathyroid, enteropancreatic, and pituitary tumors. [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": 3, "reported_glycation": 0, "reported_snv": 5, "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": "A8K7C9;B4DT58", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0003714 transcription corepressor activity;GO:0003712 transcription coregulator activity;GO:0140015 histone H3K14ac reader activity;GO:0140046 histone H4K16ac reader activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0000785 chromatin;GO:0005737 cytoplasm", "go_biological_process": "GO:1902459 positive regulation of stem cell population maintenance;GO:2000819 regulation of nucleotide-excision repair;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 10.5, "record_id": "Q92785-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9GZM5-1", "uniprot_id": "YIPF3_HUMAN", "mass": 38248.0, "length": 350, "protein_name": "Protein YIPF3", "gene_name": "YIPF3", "organism": "Human", "refseq_name": "protein YIPF3", "refseq_ac": "NP_056203", "gene_names_uniprotkb": "YIPF3; C6orf109; KLIP1", "gene_names_refseq": "C6orf109; FinGER3; KLIP1; YIPF3; YIPFbeta2; Yip5b; dJ337H4.3", "protein_names_uniprotkb": "Protein YIPF3; Killer lineage protein 1; Natural killer cell-specific antigen KLIP1; YIP1 family member 3", "protein_names_refseq": "killer lineage protein 1; natural killer cell-specific antigen KLIP1; protein YIPF3", "tax_id": 9606, "disease": "", "pathway": " (hsa:25844)", "pathway_count": 1, "publication_count": 83, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;11230166;11237011;12490290;18292551;20112406;21757827;22171320;23234360;23584533;24190977;25502872;25576301;25813380;25892735;26154972;26375851;26992070;27397612;27920218;27999994;28286305;28467828;28510447;28832583;28834231;28871256;28904123;29242379;29314611;29393594;29557506;29741879;29769354;29786170;29789417;30237853;30315122;30410026;30484775;30573663;30779550;31154438;31217245;31530632;31611695;31844290;31848261;32022078;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33912179;33936100;33968037;34357683;34433824;34725712;35051231;35154160;35251023;35513511;35561310;35580925;35705054;36010968;36284347;37938771;38838015;40307207", "class_list": "", "function": "Involved in the maintenance of the Golgi structure. May play a role in hematopoiesis., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Knockdown of YIPF1 and YIPF2, but not that of YIPF6, also reduced intracellular glycans in HT-29 cells. Thus, we confirmed that YIPF1, YIPF2, and YIPF6 play a significant role in supporting normal glycan synthesis, [RefSeq, PubMed]; The significance of YIPF3 protein for the maintenance of the morphology of the Golgi was tested by RNA interference, revealing a number of specific morphological changes to this organelle on their depletion., [RefSeq, PubMed]; YIPF3 is synthesized in the ER as a N-glycosylated form (40 kDa), is then O-glycosylated in the Golgi apparatus to become a lower mobility form (46 kDa) and finally becomes a higher mobility form cleaved at its C-terminal luminal domain (36 kDa)., [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": 4, "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": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 25, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "Q5JTD2;Q6FI85;Q8NI57;Q9NWE3;Q9Y3U9", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0030133 transport vesicle", "go_biological_process": "GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 11.7, "record_id": "Q9GZM5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UDY2-1", "uniprot_id": "ZO2_HUMAN", "mass": 133958.0, "length": 1190, "protein_name": "Tight junction protein 2", "gene_name": "TJP2", "organism": "Human", "refseq_name": "tight junction protein 2 isoform 4", "refseq_ac": "NP_001163886", "gene_names_uniprotkb": "TJP2; X104; ZO2", "gene_names_refseq": "C9DUPq21.11; DFNA51; DUP9q21.11; FHCA1; PFIC4; TJP2; X104; ZO2", "protein_names_uniprotkb": "Tight junction protein 2; Tight junction protein ZO-2; Zona occludens protein 2; Zonula occludens protein 2", "protein_names_refseq": "Friedreich ataxia region gene X104 (tight junction protein ZO-2); tight junction protein 2 isoform 4; zona occludens 2; zonula occludens protein 2", "tax_id": 9606, "disease": "disease of metabolism (Disease Ontology:DOID:0014667); familial hypercholanemia 1 (Disease Ontology:DOID:0061181); progressive familial intrahepatic cholestasis 4 (Disease Ontology:DOID:0070224); hypertension (Disease Ontology:DOID:10763)", "pathway": " (hsa:9414); (R-HSA-2028269); (R-HSA-351906); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106)", "pathway_count": 6, "publication_count": 307, "publication_id_list": "10037681;10232922;10360833;10490598;10495427;10523665;10523675;10526156;10579713;10619026;10699171;10748026;10873388;11018256;11058585;11076937;11085924;11118213;11207612;11237011;11278283;11373293;11396949;11431473;11432776;11500511;11606631;11672528;11680691;11689693;11704860;11804589;11804590;11884391;11912491;12071859;12093360;12195014;12221077;12221096;12473120;12531887;12650940;12704386;12857875;12877655;14512443;15023524;15054114;15064355;15107133;15109305;15144186;15302923;15302935;15342493;15485661;15570572;15601624;15611138;15688006;15850391;15866170;15944396;15975580;16112081;16116428;16184169;16217026;16286477;16467373;16497976;16519628;16630611;16776779;16777452;16777849;16862148;16896804;16914516;16917499;16930133;16964243;17077126;17081983;17085597;17198702;17287340;17322306;17559062;17562871;17702745;17765681;17804252;17897942;17932950;17942708;17974916;17976533;18088087;18158243;18158288;18212344;18218625;18227151;18318008;18328708;18452278;18669648;18767875;18802007;18823282;18829452;18991276;19413330;19415658;19494238;19605563;19635168;19651622;19664994;19664995;19673492;19690332;19713215;19901323;20030946;20058876;20068231;20101212;20166139;20230923;20400958;20412773;20591975;20602916;20628200;20660154;20850437;20868367;21148482;21187284;21205866;21224387;21233212;21351730;21373644;21406692;21454492;21555462;21565175;21576392;21699497;21757538;21832154;21865595;21872626;21936715;21993680;22096251;22298643;22305756;22424782;22544926;22673745;22790947;22911862;22992742;23186163;23200924;23255595;23434736;23481700;23572525;23870313;24086303;24128008;24259668;24275569;24335996;24352656;24614073;24714562;24715725;24933155;25211221;25425145;25502872;25576301;25645385;25673874;25704760;25892735;26154972;26371245;26375851;26529257;26728094;26758079;26887924;26992070;27145964;27216196;27481945;27600516;27846572;27862975;27920218;27986909;28063628;28112683;28196833;28218747;28228285;28510447;28584191;28832583;28834231;28904123;29146911;29242379;29393594;29437277;29508533;29557506;29632046;29769354;29786170;29789417;30315122;30524438;30779550;31105010;31154438;31217245;31373491;31530632;31844290;31848261;31871319;31937595;32157095;32203420;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33691108;33717175;33912179;33968037;33981976;34171305;34211107;34357683;34509645;34561969;35051231;35580925;36010968;36284347;37074911;37995182;38665916;7479768;7673236;7721814;7753201;7951235;8021274;8537347;8543060;8571126;8617235;8643598;8649427;8662891;8702870;8756646;8769096;8807639;8810315;8816443;8939998;9013646;9111050;9113980;9305890;9418861;9490638;9497316;9535835;9545236;9548756;9659915;9670022;9792683;9822605;9829970", "class_list": "", "function": "P120 RasGAP and ZO-2 are essential for Hippo signaling and tumor-suppressor function mediated by p190A RhoGAP., [RefSeq, PubMed]; Plays a role in tight junctions and adherens junctions (By similarity). Acts as a positive regulator of RANKL-induced osteoclast differentiation, potentially via mediating downstream transcriptional activity (By similarity)., [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, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; TJP2- and GSK-3beta-mediated increased susceptibility to apoptosis of cells of the inner ear is the mechanism for adult-onset hearing loss in this kindred and may serve as one model for age-related hearing loss in the general population., [RefSeq, PubMed]; This gene encodes a zonula occluden that is a member of the membrane-associated guanylate kinase homolog family. The encoded protein functions as a component of the tight junction barrier in epithelial and endothelial cells and is necessary for proper assembly of tight junctions. Mutations in this gene have been identified in patients with hypercholanemia, and genomic duplication of a 270 kb region including this gene causes autosomal dominant deafness-51. Alternatively spliced transcripts encoding multiple isoforms have been observed 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": 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": 72, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 4, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A2A3H9;B7Z2R8;B7Z7T6;F5H301;F5H886;Q15883;Q5VXL0;Q5VXL1;Q8N756;Q8NI14;Q99839;Q9UDY0;Q9UDY1", "ec_number_list": "", "go_molecular_function": "GO:0004385 GMP kinase activity;GO:0019904 protein domain specific binding;GO:0030674 protein-macromolecule adaptor activity;GO:0045296 cadherin binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005912 adherens junction", "go_biological_process": "GO:0034109 homotypic cell-cell adhesion;GO:0090559 regulation of membrane permeability;GO:0150105 protein localization to cell-cell junction;GO:0098609 cell-cell adhesion;GO:0050892 intestinal absorption", "synthesized_glycan_count": 0, "hit_score": 31.4, "record_id": "Q9UDY2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NCL2-1", "uniprot_id": "LRCL1_HUMAN", "mass": 17834.0, "length": 159, "protein_name": "Leucine-rich colipase-like protein 1", "gene_name": "LRCOL1", "organism": "Human", "refseq_name": "leucine-rich colipase-like protein 1 precursor", "refseq_ac": "NP_001182449", "gene_names_uniprotkb": "LRCOL1", "gene_names_refseq": "LRCOL1", "protein_names_uniprotkb": "Leucine-rich colipase-like protein 1", "protein_names_refseq": "leucine-rich colipase-like protein 1 precursor; leucine-rich colipase-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:100507055)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "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": 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": "H9BFB1", "ec_number_list": "", "go_molecular_function": "GO:0008047 enzyme activator activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0016042 lipid catabolic process;GO:0007586 digestion", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A6NCL2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WTV0-1", "uniprot_id": "SCRB1_HUMAN", "mass": 60878.0, "length": 552, "protein_name": "Scavenger receptor class B member 1", "gene_name": "SCARB1", "organism": "Human", "refseq_name": "scavenger receptor class B member 1 isoform 2", "refseq_ac": "NP_001076428", "gene_names_uniprotkb": "SCARB1; CD36L1; CLA1", "gene_names_refseq": "CD36L1; CLA-1; CLA1; HDLCQ6; HDLQTL6; SCARB1; SR-BI; SRB1", "protein_names_uniprotkb": "Scavenger receptor class B member 1; CD36 and LIMPII analogous 1; CD36 antigen-like 1; CLA-1; Collagen type I receptor, thrombospondin receptor-like 1; SR-BI; SRB1", "protein_names_refseq": "CD36 and LIMPII analogous 1; CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1; scavenger receptor class B member 1 isoform 2; scavenger receptor class B type III", "tax_id": 9606, "disease": "metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); sensorineural hearing loss (Disease Ontology:DOID:10003); morbid obesity (Disease Ontology:DOID:11981); end stage renal disease (Disease Ontology:DOID:783)", "pathway": " (hsa:949)", "pathway_count": 1, "publication_count": 92, "publication_id_list": "10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;11237011;12016218;12356718;12519372;12913001;12966036;16020694;18000990;19159218;20686565;21226579;21480869;24190977;24275569;24366607;24715725;25502872;25576301;25813380;25892735;26154972;26375851;26811146;26936883;26965621;26992070;27600516;27920218;28218747;28228285;28467828;28514659;28832583;28871256;28904123;29242379;29317506;29357836;29393594;29437277;29508533;29557506;29632046;29741879;29769354;30315122;30410026;31217245;31844290;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32938616;33043033;33214551;33244168;33298915;33392160;33592498;33633747;33717175;33912179;33968037;34019948;34087483;34357683;34433824;34561969;34725712;34932366;35051231;35154160;35251023;35561310;35580925;36215666;36241641;37074911;37407526;37801479;38040207;38135490;38708681;7689561;9254074;9614139", "class_list": "", "function": "(Microbial infection) Acts as a receptor for hepatitis C virus in hepatocytes and appears to facilitate its cell entry (PubMed:12356718, PubMed:12913001, PubMed:18000990). Binding between SCARB1 and the hepatitis C virus glycoprotein E2 is independent of the genotype of the viral isolate (PubMed:12356718)., [UniProtKB, PubMed, PubMed]; (Microbial infection) Facilitates the entry of human coronavirus SARS-CoV-2 by acting as an entry cofactor through HDL binding., [UniProtKB, PubMed]; (Microbial infection) Mediates uptake of M.fortuitum, E.coli and S.aureus., [UniProtKB, PubMed]; An innovative viewpoint on the existing and prospectiveness of SR-B1. Review article, [RefSeq, PubMed]; Bridging the gap between clear cell renal cell carcinoma and cutaneous melanoma: the role of SCARB1 in dysregulated cholesterol metabolism., [RefSeq, PubMed]; PON1 has palmitoyl-protein thioesterase (PPT) activity, and can affect the presence of SR-B1 on the endothelial cell membrane., [RefSeq, PubMed]; Receptor for different ligands such as phospholipids, cholesterol ester, lipoproteins, phosphatidylserine and apoptotic cells (PubMed:12016218, PubMed:12519372, PubMed:21226579). Receptor for HDL, mediating selective uptake of cholesteryl ether and HDL-dependent cholesterol efflux (PubMed:26965621). Also facilitates the flux of free and esterified cholesterol between the cell surface and apoB-containing lipoproteins and modified lipoproteins, although less efficiently than HDL. May be involved in the phagocytosis of apoptotic cells, via its phosphatidylserine binding activity (PubMed:12016218)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; SR-BI regulates the synergistic mast cell response by modulating the plasma membrane-associated cholesterol pool., [RefSeq, PubMed]; The protein encoded by this gene is a plasma membrane receptor for high density lipoprotein cholesterol (HDL). The encoded protein mediates cholesterol transfer to and from HDL. In addition, this protein is a receptor for hepatitis C virus glycoprotein E2 and facilitates cell entry by the virus, SARS-CoV2. [provided by RefSeq, Oct 2021]., [RefSeq]; [Association Analysis Between Methylation of SCARB1 Gene Promoter and Coronary Heart Disease]., [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": 9, "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": 9, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 9, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 30, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 12, "disease_count": 4, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "F8W8N0;Q14016;Q52LZ5;Q6KFX4", "ec_number_list": "", "go_molecular_function": "GO:0070506 high-density lipoprotein particle receptor activity;GO:0005044 scavenger receptor activity;GO:0034185 apolipoprotein binding;GO:0001540 amyloid-beta binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0070062 extracellular exosome;GO:0005765 lysosomal membrane;GO:0030666 endocytic vesicle membrane", "go_biological_process": "GO:0044406 adhesion of symbiont to host;GO:1902070 positive regulation of sphingolipid mediated signaling pathway;GO:0010595 positive regulation of endothelial cell migration;GO:0042311 vasodilation;GO:0015914 phospholipid transport", "synthesized_glycan_count": 0, "hit_score": 11.6, "record_id": "Q8WTV0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N7A1-1", "uniprot_id": "KLDC1_HUMAN", "mass": 46720.0, "length": 406, "protein_name": "Kelch domain-containing protein 1", "gene_name": "KLHDC1", "organism": "Human", "refseq_name": "kelch domain-containing protein 1", "refseq_ac": "NP_751943", "gene_names_uniprotkb": "KLHDC1; MSTP025", "gene_names_refseq": "KLHDC1; MST025", "protein_names_uniprotkb": "Kelch domain-containing protein 1", "protein_names_refseq": "kelch domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:122773)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;16964437;18095942;20549515;23722832;28832583;29557506;32200094;34171305;37217939", "class_list": "", "function": "Blocking CCR4 and CCR10 simultaneously, or their ligands, should be beneficial in the treatment of T-cell-mediated skin diseases., [RefSeq, PubMed]; Data show that KLHDC1 and KLHDC2 have differential localization and activity in cultured mammalian cells., [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Substrate-recognition component of a Cul5-RING (CRL5) E3 ubiquitin-protein ligase complex of the DesCEND (destruction via C-end degrons) pathway, which recognizes a C-degron located at the extreme C terminus of target proteins, leading to their ubiquitination and degradation (PubMed:32200094). The C-degron recognized by the DesCEND pathway is usually a motif of less than ten residues and can be present in full-length proteins, truncated proteins or proteolytically cleaved forms (PubMed:32200094). The CRL5(KLHDC1) complex mediates ubiquitination and degradation of truncated SELENOS selenoprotein produced by failed UGA/Sec decoding, which ends with a glycine (PubMed:32200094)., [UniProtKB, PubMed]; The crystal structures of the apo form of the mutated Keap1 Kelch domain (1.98 A resolution) and of the complex with an Nrf2-derived peptide obtained by soaking (2.20 A resolution) are reported., [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": "B3KXD9;Q8WYI1", "ec_number_list": "", "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0031466 Cul5-RING ubiquitin ligase complex", "go_biological_process": "GO:0016567 protein ubiquitination;GO:0140627 ubiquitin-dependent protein catabolic process via the C-end degron rule pathway", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q8N7A1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6Q0C0-1", "uniprot_id": "TRAF7_HUMAN", "mass": 74609.0, "length": 670, "protein_name": "E3 ubiquitin-protein ligase TRAF7", "gene_name": "TRAF7", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase TRAF7", "refseq_ac": "NP_115647", "gene_names_uniprotkb": "TRAF7; RFWD1; RNF119", "gene_names_refseq": "CAFDADD; RFWD1; RNF119; TRAF7", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase TRAF7; 2.3.2.-; 2.3.2.27; RING finger and WD repeat-containing protein 1; RING finger protein 119; RING-type E3 ubiquitin transferase TRAF7; TNF receptor-associated factor 7", "protein_names_refseq": "E3 ubiquitin-protein ligase TRAF7; RING finger and WD repeat-containing protein 1; RING finger protein 119; RING-type E3 ubiquitin transferase TRAF7; TNF receptor-associated factor 7, E3 ubiquitin protein ligase; ring finger and WD repeat domain 1", "tax_id": 9606, "disease": "peritoneal mesothelioma (Disease Ontology:DOID:1788); hepatocellular carcinoma (Disease Ontology:DOID:684); adenomatoid tumor (Disease Ontology:DOID:746); cardiac, facial, and digital anomalies with developmental delay (MONDO:MONDO:0032572)", "pathway": " (hsa:84231); (R-HSA-983168); (R-HSA-9958825)", "pathway_count": 3, "publication_count": 119, "publication_id_list": "11062501;11230166;11237011;11350924;12646216;14734113;14743216;15001576;15224091;15224092;15571818;16595681;16849449;16954532;18555777;18662542;18669648;19028597;19352404;19452197;19489725;19651622;19851334;19874575;19940261;21518757;2183031;22036506;22117219;2261476;22645359;23186163;23481700;2405250;24397554;25418920;25576301;25645385;25880248;25892735;26154972;26375851;26811146;26992070;27600516;27846572;27920218;28218747;28228285;28317937;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29961569;30315122;30410026;30429286;30484775;30779550;30833945;31154438;31844290;31848261;31998317;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33633747;33691108;33717175;33912179;33968037;33981976;34087483;34171305;34215617;34509645;34561969;34932366;35051231;35580925;36010968;36215666;36241641;36284347;37043537;37067385;37086853;37938771;38253038;38814079;38927638;7510216;7512451;8140422;8234276;8626374;8662591;8662795;9380723;9668046", "class_list": "", "function": "E3 ubiquitin and SUMO-protein ligase that plays a role in different biological processes such as innate immunity, inflammation or apoptosis (PubMed:15001576, PubMed:37086853). Potentiates MAP3K3-mediated activation of JUN/AP1 and DDIT3 transcriptional regulators (PubMed:14743216). Negatively regulates MYB transcriptional activity by sequestering it to the cytosol via SUMOylation (By similarity). Plays a role in the phosphorylation of MAPK1 and/or MAPK3, probably via its interaction with MAP3K3. Negatively regulates RLR-mediated innate immunity by promoting 'Lys-48'-linked ubiquitination of TBK1 through its RING domain to inhibit the cellular antiviral response (PubMed:37086853). Promotes 'Lys-29'-linked polyubiquitination of NEMO/IKBKG and RELA leading to targeting these two proteins to lysosomal degradative pathways, reducing the transcriptional activity of NF-kappa-B (PubMed:21518757)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Expression of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) Candidate Genes EDA2R, PCDH9, and TRAF7 in Normal Human Kidney Development and CAKUT. Publication Status: Online-Only, [RefSeq, PubMed]; Novel mosaic TRAF7 likely pathogenic variant in an African American family., [RefSeq, PubMed]; Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease., [RefSeq, PubMed]; The Chlamydia trachomatis Inc Tri1 interacts with TRAF7 to displace native TRAF7 interacting partners., [RefSeq, PubMed]; Tumor necrosis factor (TNF; see MIM 191160) receptor-associated factors, such as TRAF7, are signal transducers for members of the TNF receptor superfamily (see MIM 191190). TRAFs are composed of an N-terminal cysteine/histidine-rich region containing zinc RING and/or zinc finger motifs; a coiled-coil (leucine zipper) motif; and a homologous region that defines the TRAF family, the TRAF domain, which is involved in self-association and receptor binding.[supplied by OMIM, Apr 2004]., [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": 6, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 49, "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": "Q9H073", "ec_number_list": "2.3.2.24;2.3.2.23;2.3.2.26;2.3.2.27;2.3.2.31;2.3.2.-;6.2.1.-;3.6.4.-;3.6.5.2;2.3.2.34;2.3.2.32;2.3.2.25;2.3.2.36;2.7.11.1", "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:0031410 cytoplasmic vesicle;GO:0000151 ubiquitin ligase complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0043410 positive regulation of MAPK cascade;GO:0006915 apoptotic process;GO:2001235 positive regulation of apoptotic signaling pathway;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 12.7, "record_id": "Q6Q0C0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q14693-1", "uniprot_id": "LPIN1_HUMAN", "mass": 98664.0, "length": 890, "protein_name": "Phosphatidate phosphatase LPIN1", "gene_name": "LPIN1", "organism": "Human", "refseq_name": "phosphatidate phosphatase LPIN1 isoform 2", "refseq_ac": "NP_001248356", "gene_names_uniprotkb": "LPIN1; KIAA0188", "gene_names_refseq": "LPIN1; PAP1", "protein_names_uniprotkb": "Phosphatidate phosphatase LPIN1; 3.1.3.4; Lipin-1", "protein_names_refseq": "phosphatidate phosphatase LPIN1 isoform 2; phosphatidate phosphatase LPIN1", "tax_id": 9606, "disease": "myoglobinuria (Disease Ontology:DOID:0080108); morbid obesity (Disease Ontology:DOID:11981); lipid metabolism disorder (Disease Ontology:DOID:3146); end stage renal disease (Disease Ontology:DOID:783); lipodystrophy (Disease Ontology:DOID:811); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:23175); (R-HSA-1483191); (R-HSA-1483213); (R-HSA-4419969); (R-HSA-75109); (R-HSA-9841922)", "pathway_count": 6, "publication_count": 164, "publication_id_list": "10100195;10191259;10425206;10558993;10677542;10835357;10882139;10893425;11027271;11044454;11068039;11120772;11237011;11420179;11481335;11672446;11698453;12055623;12111372;12216837;12221122;12618427;12824082;12829629;1310260;14521909;14970677;14973250;15175005;15715662;15845384;15889145;15911624;16380219;16861033;16959974;17007874;17132865;17158099;17420445;17478478;17561512;17761950;18238778;18446792;18583706;18669648;18694939;18718904;18817903;19043829;19172745;19336658;19494125;19494126;19651622;19915674;20231281;20338778;20643956;20876142;21081492;21413788;21816276;2188730;2188731;21926997;22134922;22241472;22986494;23328280;23426360;2344612;23481700;23783831;23901139;24715725;24732803;24828044;25418920;25576301;25645385;25838202;25892735;26005868;26048993;26945070;26992070;27600516;27846572;27869121;28063628;28218747;28228285;28514659;28821867;28832583;28834231;28904123;29242379;29393594;29437277;29557506;29632046;29765047;29786170;30315122;30524438;3057511;30784271;30833945;31092671;31154438;31217245;31530632;31695197;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33141586;33203880;33298915;33329381;33392160;33592498;33691108;33912179;33936100;33968037;34087483;34171305;34576941;34932366;35051231;35154160;35222395;35580925;36010968;36241641;36284347;36443312;37150031;37776435;39577771;8034666;8463284;8521497;8521498;9065481;9083101;9171241;9593753;9744270", "class_list": "", "function": "Acts as a magnesium-dependent phosphatidate phosphatase enzyme which catalyzes the conversion of phosphatidic acid to diacylglycerol during triglyceride, phosphatidylcholine and phosphatidylethanolamine biosynthesis and therefore controls the metabolism of fatty acids at different levels (PubMed:20231281, PubMed:23426360, PubMed:29765047, PubMed:31695197). Is involved in adipocyte differentiation (By similarity). Recruited at the mitochondrion outer membrane and is involved in mitochondrial fission by converting phosphatidic acid to diacylglycerol (By similarity). Acts also as nuclear transcriptional coactivator for PPARGC1A/PPARA regulatory pathway to modulate lipid metabolism gene expression (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Haploinsufficiency of Lipin3 leads to hypertriglyceridemia and obesity by disrupting the expression and nucleocytoplasmic localization of Lipin1., [RefSeq, PubMed]; Hydroxychloroquine sulfate: A novel treatment for lipin-1 deficiency?, [RefSeq, PubMed]; LPIN1 Is a Regulatory Factor Associated With Immune Response and Inflammation in Sepsis. Publication Status: Online-Only, [RefSeq, PubMed]; LPIN1 mutations are not commonly seen in patients with lipodystrophy who had no mutations in known disease genes., [RefSeq, PubMed]; NLIP and HAD-like Domains of Pah1 and Lipin 1 Phosphatidate Phosphatases Are Essential for Their Catalytic Activities. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a magnesium-ion-dependent phosphatidic acid phosphohydrolase enzyme that catalyzes the penultimate step in triglyceride synthesis including the dephosphorylation of phosphatidic acid to yield diacylglycerol. Expression of this gene is required for adipocyte differentiation and it also functions as a nuclear transcriptional coactivator with some peroxisome proliferator-activated receptors to modulate expression of other genes involved in lipid metabolism. Mutations in this gene are associated with metabolic syndrome, type 2 diabetes, acute recurrent rhabdomyolysis, and autosomal recessive acute recurrent myoglobinuria (ARARM). This gene is also a candidate for several human lipodystrophy syndromes. [provided by RefSeq, Mar 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": 22, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 6, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8MU38;B4DET9;B4DGS4;B4DGZ6;B5MC18;B7Z858;D6W506;E7ESE7;F5GY24;Q53T25", "ec_number_list": "3.1.3.-;3.1.3.4;3.1.3.106;3.6.1.75;2.1.1.364;1.14.11.68;3.1.3.16;2.7.11.22;2.7.11.23;2.3.1.48;2.3.1.-;3.6.1.-;3.6.1.68", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0008195 phosphatidate phosphatase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005741 mitochondrial outer membrane", "go_biological_process": "GO:0046473 phosphatidic acid metabolic process;GO:0006351 DNA-templated transcription;GO:0007077 mitotic nuclear membrane disassembly;GO:0009062 fatty acid catabolic process;GO:0032869 cellular response to insulin stimulus", "synthesized_glycan_count": 0, "hit_score": 16.5, "record_id": "Q14693-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99698-1", "uniprot_id": "LYST_HUMAN", "mass": 429139.0, "length": 3801, "protein_name": "Lysosomal-trafficking regulator", "gene_name": "LYST", "organism": "Human", "refseq_name": "lysosomal-trafficking regulator", "refseq_ac": "NP_000072", "gene_names_uniprotkb": "LYST; CHS1; CHS", "gene_names_refseq": "CHS1; CHS; LYST; Mauve", "protein_names_uniprotkb": "Lysosomal-trafficking regulator; Beige homolog", "protein_names_refseq": "Chediak-Higashi syndrome 1; beige homolog; lysosomal-trafficking regulator", "tax_id": 9606, "disease": "exfoliation syndrome (Disease Ontology:DOID:13641); platelet storage pool deficiency (Disease Ontology:DOID:2223); Chediak-Higashi syndrome (Disease Ontology:DOID:2935)", "pathway": " (hsa:1130)", "pathway_count": 1, "publication_count": 69, "publication_id_list": "11237011;11857544;11984006;14759258;18669648;19369195;20058876;20368792;23186163;24275569;24397554;24521565;25216107;25425525;25505266;25645385;25892735;26478006;26992070;27600516;27881733;28218747;28411811;28832583;29237092;29393594;29437277;29493099;29557506;29632711;30315122;30379171;30779550;31154438;31217245;31530632;31844290;31906877;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33633747;33912179;33968037;34087483;34405274;34509645;35051231;35580925;36241641;36284347;36707427;37788905;38253038;38282619;8717042;8896560;9215680", "class_list": "", "function": "Adapter protein that regulates and/or fission of intracellular vesicles such as lysosomes (PubMed:11984006, PubMed:25216107). Might regulate trafficking of effectors involved in exocytosis (PubMed:25425525). In cytotoxic T-cells and natural killer (NK) cells, has role in the regulation of size, number and exocytosis of lytic granules (PubMed:26478006). In macrophages and dendritic cells, regulates phagosome maturation by controlling the conversion of early phagosomal compartments into late phagosomes (By similarity). In macrophages and dendritic cells, specifically involved in TLR3- and TLR4-induced production of pro-inflammatory cytokines by regulating the endosomal TLR3- TICAM1/TRIF and TLR4- TICAM1/TRIF signaling pathways (PubMed:27881733)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Childhood, adolescent, and adult forms of Chediak-Higashi syndrome correlate with different genotypes., [RefSeq, PubMed]; LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size. Erratum:[Cell Mol Life Sci. 2023 Mar 4;80(3):81. doi: 10.1007/s00018-023-04724-9. PMID: 36869920] 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]; Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that regulates intracellular protein trafficking in endosomes, and may be involved in pigmentation. Mutations in this gene are associated with Chediak-Higashi syndrome, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants, though the full-length nature of some of these variants has not been determined. [provided by RefSeq, Apr 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": 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": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 96, "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": "O43274;Q5T2U9;Q96TD7;Q96TD8;Q99709;Q9H133", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005764 lysosome;GO:0015630 microtubule cytoskeleton", "go_biological_process": "GO:0015031 protein transport;GO:0051607 defense response to virus;GO:0006909 phagocytosis;GO:0007040 lysosome organization;GO:0032438 melanosome organization", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q99698-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H4L5-1", "uniprot_id": "OSBL3_HUMAN", "mass": 101224.0, "length": 887, "protein_name": "Oxysterol-binding protein-related protein 3", "gene_name": "OSBPL3", "organism": "Human", "refseq_name": "oxysterol-binding protein-related protein 3 isoform a", "refseq_ac": "NP_056365", "gene_names_uniprotkb": "OSBPL3; KIAA0704; ORP3; OSBP3", "gene_names_refseq": "ORP-3; ORP3; OSBP3; OSBPL3", "protein_names_uniprotkb": "Oxysterol-binding protein-related protein 3; ORP-3; OSBP-related protein 3; Phosphoinositide transfer protein", "protein_names_refseq": "OSBP-related protein 3; oxysterol-binding protein-related protein 3 isoform a; oxysterol-binding protein-related protein 3; phosphoinositide transfer protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:26031); (R-HSA-192105)", "pathway_count": 2, "publication_count": 83, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11483621;11568019;11735225;11802775;12590732;14593528;16143324;17322306;17428193;18088087;18270267;18578522;18669648;18691976;19369195;19413330;19651622;19690332;20068231;23186163;23428468;23481700;23830809;24209621;24397554;24715725;24742681;25447204;25645385;25880248;25892735;26154972;26715851;26811146;26992070;27846572;27920218;28218747;28514659;28832583;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29769354;30315122;30410026;30429286;31217245;31844290;32041906;32157095;32234213;32350084;32357974;32502341;32938616;32983136;33123756;33298915;33592498;33633747;33691108;33717175;33912179;33968037;33981976;34932366;35051231;35561310;35580925;36241641;36284347;36581221;37550605;37740130;40914422;9852097", "class_list": "", "function": "Lipid transfer protein that mediates the non-vesicular transport of phosphoinositide 4-phosphate (1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol 4-phosphate), or PI(4)P) at the plasma membrane (PM)/ endoplasmic reticulum (ER) contact sites (PubMed:16143324, PubMed:32041906, PubMed:32234213). Extracts PI4P from the PM, in exchange for phosphatidylcholine (PubMed:32234213). Can bind to the ER membrane protein VAPA and recruit VAPA to PM sites, thus linking these intracellular compartments (PubMed:25447204). The ORP3-VAPA complex stimulates RRAS signaling which in turn attenuates integrin beta-1 (ITGB1) activation at the cell surface (PubMed:18270267, PubMed:25447204). With VAPA, may regulate ER morphology (PubMed:16143324). Has a role in regulation of the actin cytoskeleton, cell polarity and cell adhesion (PubMed:18270267). Binds to phosphoinositides with preference for PI(3,4)P2 and PI(3,4,5)P3 (PubMed:16143324). Also binds 25-hydroxycholesterol and cholesterol (PubMed:17428193)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Loss of ORP3 induces aneuploidy and promotes bladder cancer cell invasion through deregulated microtubule and actin dynamics. Publication Status: Online-Only, [RefSeq, PubMed]; Prognostic and biological function value of OSBPL3 in colorectal cancer analyzed by multi-omic data analysis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. The encoded protein is involved in the regulation of cell adhesion and organization of the actin cytoskeleton. Alternative 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": 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": 21, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 25, "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": "A4D167;A4D168;A4D169;A4D170;A4D171;A4D172;B8ZZ79;B8ZZP0;O14591;O43357;O43358;Q8N702;Q8N703;Q8N704;Q8NFH0;Q8NFH1;Q8NI12;Q8NI13;Q9BZF4;Q9UED6", "ec_number_list": "", "go_molecular_function": "GO:0015485 cholesterol binding;GO:0120015 sterol transfer activity", "go_cellular_component": "GO:0005730 nucleolus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0031965 nuclear membrane", "go_biological_process": "GO:0006699 bile acid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "Q9H4L5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P58215-1", "uniprot_id": "LOXL3_HUMAN", "mass": 83166.0, "length": 753, "protein_name": "Lysyl oxidase homolog 3", "gene_name": "LOXL3", "organism": "Human", "refseq_name": "lysyl oxidase homolog 3 isoform 2 precursor", "refseq_ac": "NP_001276093", "gene_names_uniprotkb": "LOXL3; LOXL", "gene_names_refseq": "LOXL3; LOXL; MYP28", "protein_names_uniprotkb": "Lysyl oxidase homolog 3; 1.4.3.-; 1.4.3.13; Lysyl oxidase-like protein 3", "protein_names_refseq": "lysyl oxidase homolog 3 isoform 2 precursor; lysyl oxidase homolog 3; lysyl oxidase-like protein 3", "tax_id": 9606, "disease": "myopia (Disease Ontology:DOID:11830); myopia 28, autosomal recessive (MONDO:MONDO:0030697)", "pathway": " (hsa:84695); (R-HSA-1566948); (R-HSA-2243919)", "pathway_count": 3, "publication_count": 81, "publication_id_list": "10.1101/2023.09.13.557529;10198291;10936461;11237011;11284725;11313359;11334717;11386757;11481325;12211432;1237296;1348714;1484505;1567360;16906757;17018530;19729652;22842973;22869377;24715725;25645385;25663169;25880248;25892735;26154972;26218558;26957899;26992070;27600516;27846572;27862975;27920218;28065600;28228285;28832583;29242379;29393594;29557506;29632711;29741879;29769354;29786170;30315122;30484775;31154438;31217245;31844290;31848261;32157095;32161166;32350084;32357974;32488085;32897882;32938616;32983136;33456446;33592498;33968037;34087483;34360836;34448895;34932366;35035830;35051231;35580925;35841383;3595596;36917121;37074911;37938771;3992061;41816;5246001;5723342;6123066;6129847;641035;8617364;8636146;9470928", "class_list": "", "function": "Apoptosis Activation and Autophagy Inhibition of Chondrocytes by Leptin by the Upregulation of LOXL3 in Osteoarthritis Pathogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of LOXL3-associating immune infiltration landscape and prognostic value in hepatocellular carcinoma., [RefSeq, PubMed]; LOXL3 Silencing Affected Cell Adhesion and Invasion in U87MG Glioma Cells. Publication Status: Online-Only, [RefSeq, PubMed]; LOXL3 encodes two variants, LOXL3 and LOXL3-sv1, both of which function as amine oxidases with distinct tissue and substrate specificities from one another., [RefSeq, PubMed]; LOXL3-promoted hepatocellular carcinoma progression via promotion of Snail1/USP4-mediated epithelial-mesenchymal transition., [RefSeq, PubMed]; Mediates the post-translational oxidative deamination of lysine residues on target proteins leading to the formation of deaminated lysine (allysine)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Protein-lysine 6-oxidase that mediates the oxidation of peptidyl lysine residues to allysine in target proteins (PubMed:17018530, PubMed:28065600). Catalyzes the post-translational oxidative deamination of peptidyl lysine residues in precursors of elastin and different types of collagens, a prerequisite in the formation of cross-links between collagens and elastin (PubMed:17018530). Required for somite boundary formation by catalyzing oxidation of fibronectin (FN1), enhancing integrin signaling in myofibers and their adhesion to the myotendinous junction (MTJ) (By similarity). Acts as a regulator of inflammatory response by inhibiting differentiation of naive CD4(+) T-cells into T-helper Th17 or regulatory T-cells (Treg): acts by interacting with STAT3 in the nucleus and catalyzing both deacetylation and oxidation of lysine residues on STAT3, leading to disrupt STAT3 dimerization and inhibit STAT3 transcription activity (PubMed:28065600). Oxidation of lysine residues to allysine on STAT3 preferentially takes place on lysine residues that are acetylated (PubMed:28065600). Also able to catalyze deacetylation of lysine residues on STAT3 (PubMed:28065600)., [UniProtKB, UniProtKB, PubMed, PubMed]; Shows protein-lysine 6-oxidase activity toward elastin and different types of collagens, with the highest activity toward collagen type IV (PubMed:17018530)., [UniProtKB, PubMed]; The Genetic Confirmation and Clinical Characterization of LOXL3-Associated MYP28: A Common Type of Recessive Extreme High Myopia., [RefSeq, PubMed]; This gene encodes a lysyl oxidase, which likely functions as an amine oxidase and plays a role in the formation of crosslinks in collagens and elastin. Deletion of the related gene in mouse causes neonatal mortality with cleft palate, spine deformity, and defects in collagen organization. A mutation in this gene was found in a family with Stickler syndrome. [provided by RefSeq, Sep 2016]., [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": 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": 8, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 8, "disease_count": 2, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "D6W5J1;Q2EHP2;Q6IPL7;Q96RS1", "ec_number_list": "3.4.24.-;3.4.24.19;1.4.3.13;1.4.3.-", "go_molecular_function": "GO:0005507 copper ion binding;GO:0001968 fibronectin binding;GO:0004720 protein-lysine 6-oxidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "GO:0006954 inflammatory response;GO:0021510 spinal cord development;GO:0030324 lung development;GO:0045892 negative regulation of DNA-templated transcription;GO:0030199 collagen fibril organization", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "P58215-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y2U9-1", "uniprot_id": "KLDC2_HUMAN", "mass": 46099.0, "length": 406, "protein_name": "Kelch domain-containing protein 2", "gene_name": "KLHDC2", "organism": "Human", "refseq_name": "kelch domain-containing protein 2", "refseq_ac": "NP_055130", "gene_names_uniprotkb": "KLHDC2; HCA33", "gene_names_refseq": "HCLP-1; HCLP1; KLHDC2; LCP", "protein_names_uniprotkb": "Kelch domain-containing protein 2; HCLP-1; Hepatocellular carcinoma-associated antigen 33; Host cell factor homolog LCP; Host cell factor-like protein 1", "protein_names_refseq": "hepatocellular carcinoma-associated antigen 33; host cell factor homolog LCP; host cell factor-like protein 1; kelch domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:23588)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "11237011;11384994;12097419;16964437;25576301;25880248;26138980;26992070;27600516;27846572;27920218;28218747;28228285;28649982;28832583;28834231;29242379;29437277;29493099;29557506;29632711;29775578;29779948;30315122;30429286;30526872;30833945;31154438;31844290;31848261;32157095;32387766;32488085;32897882;32938616;33298915;33592498;33717175;33936100;34211107;34932366;35051231;35561310;35580925;36241641;36284347;36805027;38177675", "class_list": "", "function": "Data show that KLHDC1 and KLHDC2 have differential localization and activity in cultured mammalian cells., [RefSeq, PubMed]; Substrate-recognition component of a Cul2-RING (CRL2) E3 ubiquitin-protein ligase complex of the DesCEND (destruction via C-end degrons) pathway, which recognizes a C-degron located at the extreme C terminus of target proteins, leading to their ubiquitination and degradation (PubMed:29775578, PubMed:29779948, PubMed:30526872, PubMed:36805027, PubMed:38177675). The C-degron recognized by the DesCEND pathway is usually a motif of less than ten residues and can be present in full-length proteins, truncated proteins or proteolytically cleaved forms (PubMed:29775578, PubMed:29779948, PubMed:30526872). The CRL2(KLHDC2) complex specifically recognizes proteins with a diglycine (Gly-Gly) at the C-terminus, leading to their ubiquitination and degradation (PubMed:29775578, PubMed:29779948, PubMed:30526872, PubMed:36805027, PubMed:38177675). The CRL2(KLHDC2) complex mediates ubiquitination and degradation of truncated SELENOK and SELENOS selenoproteins produced by failed UGA/Sec decoding, which end with a diglycine (PubMed:26138980, PubMed:30526872, PubMed:36805027). The CRL2(KLHDC2) complex also recognizes proteolytically cleaved proteins ending with Gly-Gly, such as the N-terminal fragment of USP1, leading to their degradation (PubMed:29775578, PubMed:30526872, PubMed:36805027, PubMed:38177675). May also act as an indirect repressor of CREB3-mediated transcription by interfering with CREB3-DNA-binding (PubMed:11384994)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Three crystal structures have been reported of a CRL2 substrate receptor, KLHDC2, in complex with the diglycine-ending C-end degrons of an early terminated selenoprotein, SelK, and the N-terminal proteolytic fragment of USP1., [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": 20, "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": "B3KPF9;Q6IAF0;Q86TY9", "ec_number_list": "", "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0031965 nuclear membrane;GO:0016604 nuclear body;GO:0031462 Cul2-RING ubiquitin ligase complex", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination;GO:0140627 ubiquitin-dependent protein catabolic process via the C-end degron rule pathway", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q9Y2U9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q1X8D7-1", "uniprot_id": "LRC36_HUMAN", "mass": 83823.0, "length": 754, "protein_name": "Leucine-rich repeat-containing protein 36", "gene_name": "LRRC36", "organism": "Human", "refseq_name": "leucine-rich repeat-containing protein 36 isoform 2", "refseq_ac": "NP_001155047", "gene_names_uniprotkb": "LRRC36; RORBP70", "gene_names_refseq": "LRRC36; RORBP70; XLHSRF2", "protein_names_uniprotkb": "Leucine-rich repeat-containing protein 36; ROR gamma-binding protein 70", "protein_names_refseq": "ROR gamma binding protein 70; heat shock regulated 2; leucine-rich repeat-containing protein 36 isoform 2; leucine-rich repeat-containing protein 36", "tax_id": 9606, "disease": "", "pathway": " (hsa:55282)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;32357974;32387766;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": 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": "A4FTV6;A6NDE9;A8K8E6;B7Z7B3;Q7Z5K5", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q1X8D7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5XG99-1", "uniprot_id": "LYSM4_HUMAN", "mass": 32066.0, "length": 296, "protein_name": "LysM and putative peptidoglycan-binding domain-containing protein 4", "gene_name": "LYSMD4", "organism": "Human", "refseq_name": "lysM and putative peptidoglycan-binding domain-containing protein 4 isoform b", "refseq_ac": "NP_001271346", "gene_names_uniprotkb": "LYSMD4", "gene_names_refseq": "LYSMD4", "protein_names_uniprotkb": "LysM and putative peptidoglycan-binding domain-containing protein 4", "protein_names_refseq": "LysM, putative peptidoglycan-binding, domain containing 4; lysM and putative peptidoglycan-binding domain-containing protein 4 isoform b; lysM and putative peptidoglycan-binding domain-containing protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:145748)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;25892735;27893789;29242379;29769354;30833945;31844290;32157095;32350084;32938616;33981976;34357683", "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": 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": "A6NII6;A8K2N1;Q96LY7", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q5XG99-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8ND30-1", "uniprot_id": "LIPB2_HUMAN", "mass": 98544.0, "length": 876, "protein_name": "Liprin-beta-2", "gene_name": "PPFIBP2", "organism": "Human", "refseq_name": "liprin-beta-2 isoform 2", "refseq_ac": "NP_001243497", "gene_names_uniprotkb": "PPFIBP2", "gene_names_refseq": "Cclp1; PPFIBP2", "protein_names_uniprotkb": "Liprin-beta-2; PTPRF-interacting protein-binding protein 2; Protein tyrosine phosphatase receptor type f polypeptide-interacting protein-binding protein 2", "protein_names_refseq": "PPFIA binding protein 2; PTPRF interacting protein, binding protein 2 (liprin beta 2); liprin-beta-2 isoform 2; protein tyrosine phosphatase receptor type f polypeptide-interacting protein-binding protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:8495); (R-HSA-388844)", "pathway_count": 2, "publication_count": 59, "publication_id_list": "11237011;15750591;18669648;19252495;19664994;20139422;20166139;21262467;21462929;21940441;21993680;22286174;22328529;22357843;23186163;23345436;23481700;24275569;24714562;24715725;25385546;25908590;26154972;26375851;26728094;26992070;27920218;28832583;28834231;29242379;29314611;29485866;29508533;29557506;29632711;29769354;29786170;30043417;30315122;31844290;31848261;32157095;32387766;32502341;32938616;32983136;33141586;33392160;33717175;33912179;33968037;34171305;34211107;34509645;34932366;35051231;35318648;7796809;9624153", "class_list": "", "function": "Analysis of crystal structure of the central coiled-coil domain from human liprin-beta2, [RefSeq, PubMed]; Germline mutations in a novel gene, PPFIBP2, differentiated risk for lethal prostate cancer from low-risk cases and were associated with shorter survival times after diagnosis., [RefSeq, PubMed]; Knockdown of either Rab17 or liprin-beta2 restores invasiveness of ERK2-depleted cells, indicating that ERK2 drives invasion of MDA-MB-231 cells by suppressing expression of these genes., [RefSeq, PubMed]; May regulate the disassembly of focal adhesions. Did not bind receptor-like tyrosine phosphatases type 2A., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. The encoded protein is a beta liprin and plays a role in axon guidance and neuronal synapse development by recruiting LAR protein-tyrosine phosphatases to the plasma membrane. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [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": 5, "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": "B7Z433;E9PK77;O75337;Q8WW26", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005829 cytosol;GO:0048786 presynaptic active zone", "go_biological_process": "GO:0007528 neuromuscular junction development", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q8ND30-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UPM6-1", "uniprot_id": "LHX6_HUMAN", "mass": 40045.0, "length": 363, "protein_name": "LIM/homeobox protein Lhx6", "gene_name": "LHX6", "organism": "Human", "refseq_name": "LIM/homeobox protein Lhx6 isoform 3", "refseq_ac": "NP_001229262", "gene_names_uniprotkb": "LHX6; LHX6.1", "gene_names_refseq": "LHX6.1; LHX6; hLHX6", "protein_names_uniprotkb": "LIM/homeobox protein Lhx6; LIM homeobox protein 6; LIM/homeobox protein Lhx6.1", "protein_names_refseq": "LIM homeodomain protein 6.1; LIM/homeobox protein Lhx6 isoform 3; LIM/homeobox protein Lhx6.1", "tax_id": 9606, "disease": "depressive disorder (Disease Ontology:DOID:1596)", "pathway": " (hsa:26468)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "10393337;11230166;11237011;16732332;27862975;33836029;34773443;35051231;35384355;36154949;39438838", "class_list": "", "function": "Differentially methylated hypermethylation of LHX6 is a good cancer marker in HNSCC as well as in other kinds of neoplasias and confirm the importance of searching for markers of epigenetic dysregulation in cancer, [RefSeq, PubMed]; LHX6 promoter hypermethylation in oncological pediatric patients conceived by IVF., [RefSeq, PubMed]; Lhx6 deficiency causes human embryonic palatal mesenchymal cell mitophagy dysfunction in cleft palate. Publication Status: Online-Only, [RefSeq, PubMed]; Probable transcription factor required for the expression of a subset of genes involved in interneurons migration and development. Functions in the specification of cortical interneuron subtypes and in the migration of GABAergic interneuron precursors from the subpallium to the cerebral cortex (By similarity)., [UniProtKB]; The exon 12-containing LHX6 isoforms promote cervical cancer cell proliferation by regulating the MAPK signaling pathway., [RefSeq, PubMed]; This gene encodes a member of a large protein family that contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein has tandem LIM domains as well as a DNA-binding homeodomain. The protein functions as a transcription factor involved in embryogenesis and head development and is highly expressed in neural crest derived mesenchyme cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2017]., [RefSeq]; Tumor suppressor LHX6 upregulation contributes to the inhibitory effect of miR-346 knockdown on colorectal cancer cell growth., [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": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6PVQ1;A6PVQ2;A8K1B2;B7Z4D0;H0YN76;Q5T7S7;Q5T7S8;Q9NTK3;Q9UPM5", "ec_number_list": "", "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0046872 metal 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:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0021799 cerebral cortex radially oriented cell migration;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0030182 neuron differentiation;GO:0048469 cell maturation", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9UPM6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P28069-1", "uniprot_id": "PIT1_HUMAN", "mass": 32912.0, "length": 291, "protein_name": "Pituitary-specific positive transcription factor 1", "gene_name": "POU1F1", "organism": "Human", "refseq_name": "pituitary-specific positive transcription factor 1 isoform alpha", "refseq_ac": "NP_000297", "gene_names_uniprotkb": "POU1F1; GHF1; PIT1", "gene_names_refseq": "CPHD1; GHF-1; PIT1; POU1F1a; POU1F1; Pit-1", "protein_names_uniprotkb": "Pituitary-specific positive transcription factor 1; GHF-1; Growth hormone factor 1; PIT-1", "protein_names_refseq": "POU domain, class 1, transcription factor 1; growth hormone factor 1; pituitary transcript factor 1; pituitary-specific positive transcription factor 1 isoform alpha; pituitary-specific positive transcription factor 1", "tax_id": 9606, "disease": "combined or isolated pituitary hormone deficiency 1 (Disease Ontology:DOID:0061019); pituitary gland disease (Disease Ontology:DOID:53); combined pituitary hormone deficiency (Disease Ontology:DOID:9410)", "pathway": " (hsa:5449)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "11237011;11297581;1370379;1472057;1487156;1509262;1509263;15928241;16431844;16968807;1956794;19887646;22010633;26612202;34342803;37948564;38134555;38139044;38146732;38228887;40136647;7721104;7852536;8346040;8768831;9485179;9626142", "class_list": "", "function": "CTGF regulates mineralization in human mature chondrocyte by controlling Pit-1 and modulating ANK via the BMP/Smad signalling., [RefSeq, PubMed]; Clinical features of anti-pituitary-specific transcription factor-1 (PIT-1) hypophysitis: a new aspect of paraneoplastic autoimmune condition., [RefSeq, PubMed]; Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes., [RefSeq, PubMed]; Phosphate (Pi) Transporter PIT1 Induces Pi Starvation in Salmonella-Containing Vacuole in HeLa Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Pituitary neuroendocrine tumors with PIT1/SF1 co-expression show distinct clinicopathological and molecular features. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the POU family of transcription factors that regulate mammalian development. The protein regulates expression of several genes involved in pituitary development and hormone expression. Mutations in this genes result in combined pituitary hormone deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor involved in the specification of the lactotrope, somatotrope, and thyrotrope phenotypes in the developing anterior pituitary. Specifically binds to the consensus sequence 5'-TAAAT-3'. Activates growth hormone and prolactin genes (PubMed:22010633, PubMed:26612202)., [UniProtKB, PubMed, 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": 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": 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": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 16, "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": "O75757;Q15132;Q15133;Q9UD34;Q9UEL3", "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:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:0061629 RNA polymerase II-specific DNA-binding transcription factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0000785 chromatin", "go_biological_process": "GO:0021984 adenohypophysis development;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:0008285 negative regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "P28069-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UD71-1", "uniprot_id": "PPR1B_HUMAN", "mass": 22963.0, "length": 204, "protein_name": "Protein phosphatase 1 regulatory subunit 1B", "gene_name": "PPP1R1B", "organism": "Human", "refseq_name": "protein phosphatase 1 regulatory subunit 1B isoform 2", "refseq_ac": "NP_001229393", "gene_names_uniprotkb": "PPP1R1B; DARPP32", "gene_names_refseq": "DARPP-32; DARPP32; PPP1R1B", "protein_names_uniprotkb": "Protein phosphatase 1 regulatory subunit 1B; DARPP-32; Dopamine- and cAMP-regulated neuronal phosphoprotein", "protein_names_refseq": "dopamine and cAMP-regulated neuronal phosphoprotein 32; protein phosphatase 1 regulatory subunit 1B isoform 2", "tax_id": 9606, "disease": "withdrawal disorder (Disease Ontology:DOID:0060001); Huntington's disease (Disease Ontology:DOID:12858); depressive disorder (Disease Ontology:DOID:1596); status epilepticus (Disease Ontology:DOID:1824); bipolar disorder (Disease Ontology:DOID:3312); brain infarction (Disease Ontology:DOID:3454); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:84152); (R-HSA-180024)", "pathway_count": 2, "publication_count": 52, "publication_id_list": "10604473;11013232;11050161;11237011;12065642;12124342;12538871;15359085;16965177;17027969;17194217;17535922;17686497;18044203;18808062;18954090;20236543;20808799;20838877;21564097;2173704;21811441;21904525;22179181;22820052;2557337;25692798;26178297;26872373;27584878;27998980;29557506;29782621;30043390;31447328;32157095;32519838;32735911;33553717;33991172;34820905;35939707;38036593;6087160;6296685;6330098;6501302;8120638;8386374;8663227;9099992;9371714", "class_list": "", "function": "A Homozygous Missense Variant in PPP1R1B/DARPP-32 Is Associated With Generalized Complex Dystonia., [RefSeq, PubMed]; DARPP32, a target of hyperactive mTORC1 in the retinal pigment epithelium., [RefSeq, PubMed]; Inhibitor of protein-phosphatase 1., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; PP1, PKA and DARPP-32 in breast cancer: A retrospective assessment of protein and mRNA expression., [RefSeq, PubMed]; Silencing of miR490-3p by H. pylori activates DARPP-32 and induces resistance to gefitinib., [RefSeq, PubMed]; This gene encodes a bifunctional signal transduction molecule. Dopaminergic and glutamatergic receptor stimulation regulates its phosphorylation and function as a kinase or phosphatase inhibitor. As a target for dopamine, this gene may serve as a therapeutic target for neurologic and psychiatric disorders. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]; Unravelling transcriptomic complexity in breast cancer through modulation of DARPP-32 expression and signalling pathways. 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": 13, "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": "Q547V9;Q547W0;Q9H7G1", "ec_number_list": "", "go_molecular_function": "GO:0004862 cAMP-dependent protein kinase inhibitor activity;GO:0019888 protein phosphatase regulator activity;GO:0004860 protein kinase inhibitor activity;GO:0004864 protein phosphatase inhibitor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0043025 neuronal cell body", "go_biological_process": "GO:0007165 signal transduction;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q9UD71-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86UK5-1", "uniprot_id": "LBN_HUMAN", "mass": 147948.0, "length": 1308, "protein_name": "Limbin", "gene_name": "EVC2", "organism": "Human", "refseq_name": "limbin isoform 2", "refseq_ac": "NP_001159608", "gene_names_uniprotkb": "EVC2; LBN", "gene_names_refseq": "EVC2; LBN; WAD", "protein_names_uniprotkb": "Limbin; EVC2; Ellis-van Creveld syndrome protein 2", "protein_names_refseq": "Ellis van Creveld syndrome 2; ellis-van Creveld syndrome protein 2; limbin isoform 2; limbin", "tax_id": 9606, "disease": "Weyers acrofacial dysostosis (Disease Ontology:DOID:0111571); Ellis-Van Creveld syndrome (Disease Ontology:DOID:12714)", "pathway": " (hsa:132884); (R-HSA-5632684); (R-HSA-5635838)", "pathway_count": 3, "publication_count": 115, "publication_id_list": "10433824;10564661;10966113;11027307;11237011;11960000;12050670;12068298;12123571;12136126;12138125;12426310;12468274;12571802;14528312;14611647;14614827;14636583;15115751;15198976;15300262;15618519;15691767;16061793;16136078;16155214;16404586;16421275;16459297;16459298;16611981;16630821;16651542;16740475;16908539;16959974;16980583;17115028;17442700;17641202;17960137;18455992;18497258;18767875;18815277;18827223;18832070;19196978;19218434;19305393;19365551;19368795;19371734;19533801;19549984;19592253;19622347;19666503;19684112;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;29242379;29557506;29632046;30417976;30524438;31217245;31611695;31844290;33731941;35051231;35494241;36672825;37107645;9601642;9874371", "class_list": "", "function": "Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Plays a critical role in bone formation and skeletal development. May be involved in early embryonic morphogenesis., [UniProtKB, UniProtKB]; Data provide conclusive evidence that Weyers acrofacial dysostosis and EvC syndrome are allelic and genetically heterogeneous conditions., [RefSeq, PubMed]; Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations. Publication Status: Online-Only, [RefSeq, PubMed]; EVC2 is mutated in an Ashkenazi individual with Ellis-van Creveld syndrome, [RefSeq, PubMed]; Human-chimpanzee fused cells reveal cis-regulatory divergence underlying skeletal evolution. Erratum:[Nat Genet. 2021 Apr;53(4):587. doi: 10.1038/s41588-021-00849-4. PMID: 33762754], [RefSeq, PubMed]; Identification of Compound Heterozygous EVC2 Gene Variants in Two Mexican Families with Ellis-van Creveld Syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Mutations in this gene cause Ellis-van Creveld syndrome., [RefSeq, PubMed]; Novel Wnt10A mutations (c.521T>C and c.653T>G) and EVC2 mutation (c.1472C>T) were identified in families with selective tooth agenesis. The Wnt10A c.521T>C mutation and the EVC2 c.1472C>T mutation were considered as pathogenic for affecting highly conserved amino acids, co-segregated with phenotype and predicted to be disease-causing by SIFT and PolyPhen2., [RefSeq, PubMed]; This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 38, "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": "Q86YT3;Q86YT4;Q8NG49", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005929 cilium;GO:0060170 ciliary membrane;GO:0098797 plasma membrane protein complex", "go_biological_process": "GO:0007224 smoothened signaling pathway", "synthesized_glycan_count": 0, "hit_score": 11.6, "record_id": "Q86UK5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O15260-1", "uniprot_id": "SURF4_HUMAN", "mass": 30394.0, "length": 269, "protein_name": "Surfeit locus protein 4", "gene_name": "SURF4", "organism": "Human", "refseq_name": "surfeit locus protein 4 isoform 3", "refseq_ac": "NP_001267718", "gene_names_uniprotkb": "SURF4; SURF-4", "gene_names_refseq": "ERV29; SURF4", "protein_names_uniprotkb": "Surfeit locus protein 4", "protein_names_refseq": "surface 4 integral membrane protein; surfeit locus protein 4 isoform 3; surfeit locus protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:6836); (R-HSA-6798695); (R-HSA-6811434)", "pathway_count": 3, "publication_count": 156, "publication_id_list": "10052452;10318838;10445031;10559959;10761932;10921873;10931946;11172815;11237011;11493604;11689559;11703931;11726511;11739780;11748249;12047556;12070132;14504276;14654841;15029241;15037235;15272311;15308636;15616190;15632110;15813748;16030262;1631136;16571679;16633337;1680566;16912714;16926190;16940185;17113389;17253781;17360540;17429068;17451557;17760859;17927562;17956946;18182008;18287528;18491316;18524849;18809720;1898986;18991276;19015319;19109418;19151722;19164740;19369418;1957170;19631211;19758564;20005805;20068231;20136777;20357002;20427317;20462495;20534429;20637885;21219331;21550981;21689688;21844168;22013193;22094269;22304919;22645359;23396477;23481700;23650620;25364732;25418920;25436559;25492864;25576301;25645385;25802875;26374642;26992070;27543614;27862975;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29643117;29786170;30251625;30315122;30410026;30429286;30779550;31154438;31217245;31611695;31844290;31848261;32157095;32161166;32357974;32488085;32502341;32897882;32938616;32983136;32989016;33186557;33537174;33592498;33717175;33968037;34185709;34725712;35051231;35083852;35271396;35580925;35901214;36010968;36241641;36284347;36370847;36446386;36574593;38665916;7540914;7844144;8001155;8128252;8132710;8221884;8253837;8505331;8620540;8692836;9114004;9177194;9244307;9288971;9405360;9740673;9751720;9990005", "class_list": "", "function": "A SURF4-to-proteoglycan relay mechanism that mediates the sorting and secretion of a tagged variant of sonic hedgehog., [RefSeq, PubMed]; Endoplasmic reticulum cargo receptor that mediates the export of lipoproteins by recruiting cargos into COPII vesicles to facilitate their secretion (PubMed:29643117, PubMed:30251625, PubMed:33186557). Acts as a cargo receptor for lipoproteins bearing both APOB and APOA1, thereby regulating lipoprotein delivery and the maintenance of lipid homeostasis (PubMed:29643117, PubMed:33186557). Synergizes with the GTPase SAR1B to mediate transport of circulating lipoproteins (PubMed:33186557). Promotes the secretion of PCSK9 (PubMed:30251625). Also mediates the efficient secretion of erythropoietin (EPO) (PubMed:32989016). May also play a role in the maintenance of the architecture of the endoplasmic reticulum-Golgi intermediate compartment and of the Golgi (PubMed:18287528)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Export of polybasic motif-containing secretory proteins BMP8A and SFRP1 from the endoplasmic reticulum is regulated by surfeit locus protein 4., [RefSeq, PubMed]; High SURF4 expression is associated with poor prognosis of breast cancer., [RefSeq, PubMed]; Selective inhibition of protein secretion by abrogating receptor-coat interactions during ER export., [RefSeq, PubMed]; Silencing Surf4 together with ERGIC-53 or silencing the p24 family member p25 induced an identical phenotype characterized by a reduced number of ERGIC clusters and fragmentation of the Golgi apparatus without effect on anterograde transport., [RefSeq, PubMed]; Surf4, cargo trafficking, lipid metabolism, and therapeutic implications. Review article, [RefSeq, PubMed]; This gene is located in the surfeit gene cluster, which is comprised of very tightly linked housekeeping genes that do not share sequence similarity. The encoded protein is a conserved integral membrane protein that interacts with endoplasmic reticulum-Golgi intermediate compartment proteins. Disruption of this gene results in reduced numbers of endoplasmic reticulum-Golgi intermediate compartment clusters and redistribution of coat protein I to the cytosol. 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": 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": 2, "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": "B7Z6A4;O60923;Q5T8U6;Q9UNZ0;Q9UNZ1", "ec_number_list": "", "go_molecular_function": "GO:0038024 cargo receptor activity;GO:0097020 COPII receptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0030134 COPII-coated ER to Golgi transport vesicle", "go_biological_process": "GO:0032368 regulation of lipid transport;GO:0090110 COPII-coated vesicle cargo loading;GO:0042953 lipoprotein transport;GO:0055088 lipid homeostasis;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 15.9, "record_id": "O15260-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UHJ9-1", "uniprot_id": "PGAP2_HUMAN", "mass": 29400.0, "length": 254, "protein_name": "Acyltransferase PGAP2", "gene_name": "PGAP2", "organism": "Human", "refseq_name": "acyltransferase PGAP2 isoform 3", "refseq_ac": "NP_001243164", "gene_names_uniprotkb": "PGAP2; FRAG1", "gene_names_refseq": "CWH43-N; FRAG1; HPMRS3; MRT17; MRT21; PGAP2", "protein_names_uniprotkb": "Acyltransferase PGAP2; 2.3.-.-; FGF receptor-activating protein 1; Post-GPI attachment to proteins factor 2", "protein_names_refseq": "FGF receptor activating protein 1; acyltransferase PGAP2 isoform 3; acyltransferase PGAP2; cell wall biogenesis 43 N-terminal homolog; post-GPI attachment to proteins factor 2", "tax_id": 9606, "disease": "hyperphosphatasia with impaired intellectual development syndrome 3 (Disease Ontology:DOID:0070435)", "pathway": " (hsa:27315)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "10585768;11237011;23561846;23561847;25418920;29119105;29437277;31611695;31805394;31844290;32157095;32350084;32938616;35051231", "class_list": "", "function": "A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers., [RefSeq, PubMed]; A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder., [RefSeq, PubMed]; Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability., [RefSeq, PubMed]; Involved in the fatty acid remodeling steps of GPI-anchor maturation where the unsaturated acyl chain at sn-2 of inositol phosphate is replaced by a saturated stearoyl chain. May catalyze the second step of the fatty acid remodeling, by reacylating a lyso-GPI intermediate at sn-2 of inositol phosphate by a saturated chain. The fatty acid remodeling steps is critical for the integration of GPI-APs into lipid rafts., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome., [RefSeq, PubMed]; The protein encoded by this gene plays a role in the maturation of glycosylphosphatidylinositol (GPI) anchors on GPI-anchored proteins. Mutations in this gene are associated with an autosomal recessive syndrome characterized by hyperphosphatasia and intellectual disability. [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": 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": "E9PJG5;H7BXL9;Q6UC77;Q96G66;Q9UF01;Q9Y4N1", "ec_number_list": "2.3.-.-", "go_molecular_function": "GO:0016740 transferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006506 GPI anchor biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q9UHJ9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q16553-1", "uniprot_id": "LY6E_HUMAN", "mass": 13507.0, "length": 131, "protein_name": "Lymphocyte antigen 6E", "gene_name": "LY6E", "organism": "Human", "refseq_name": "lymphocyte antigen 6E precursor", "refseq_ac": "NP_001120685", "gene_names_uniprotkb": "LY6E; 9804; RIGE; SCA2; TSA1", "gene_names_refseq": "LY6E; RIG-E; RIGE; SCA-2; SCA2; TSA-1", "protein_names_uniprotkb": "Lymphocyte antigen 6E; Ly-6E; RIG-E; Retinoic acid-induced gene E protein; SCA-2; Stem cell antigen 2; TSA-1; Thymic shared antigen 1", "protein_names_refseq": "ly-6E; lymphocyte antigen 6 complex, locus E; lymphocyte antigen 6E precursor; lymphocyte antigen 6E; retinoic acid induced gene E; retinoic acid-induced gene E protein; stem cell antigen 2; thymic shared antigen 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:4061); (R-HSA-163125); (R-HSA-9918485)", "pathway_count": 3, "publication_count": 67, "publication_id_list": "11072085;11237011;11337487;12682107;15098107;15507651;15838506;18266465;18507432;23084921;23481700;23658209;24074594;2443973;24714562;25505266;25576301;25880248;26056282;26212330;26468529;27600516;27832191;27846572;28130445;28228285;28467828;28649982;28832583;28904123;29242379;29314611;29557506;29610346;29742433;29769354;30190477;30429286;30524438;31611695;31720911;31844290;32157095;32350084;32641482;32704094;32938616;32983136;33141586;33592498;33936100;33968037;34087483;3422494;34357683;35051231;35154160;35251023;35310607;36165190;36581221;39313785;39408764;8650192;8757598;9551972;9931503", "class_list": "", "function": "(Microbial infection) Promotes entry, likely through an enhanced virus-cell fusion process, of various viruses including HIV-1, West Nile virus, dengue virus and Zika virus (PubMed:28130445). In contrast, the paramyxovirus PIV5, which enters at the plasma membrane, does not require LY6E (PubMed:28130445, PubMed:29610346). Mechanistically, adopts a microtubule-like organization upon viral infection and enhances viral uncoating after endosomal escape (PubMed:28130445, PubMed:30190477)., [UniProtKB, PubMed, PubMed, PubMed]; Exploring Molecular Drivers of PARPi Resistance in BRCA1-Deficient Ovarian Cancer: The Role of LY6E and Immunomodulation. Publication Status: Online-Only, [RefSeq, PubMed]; GPI-anchored cell surface protein that regulates T-lymphocytes proliferation, differentiation, and activation. Regulates the T-cell receptor (TCR) signaling by interacting with component CD3Z/CD247 at the plasma membrane, leading to CD3Z/CD247 phosphorylation modulation (By similarity). Restricts the entry of human coronaviruses, including SARS-CoV, MERS-CoV and SARS-CoV-2, by interfering with spike protein-mediated membrane fusion (PubMed:32641482). Also plays an essential role in placenta formation by acting as the main receptor for syncytin-A (SynA). Therefore, participates in the normal fusion of syncytiotrophoblast layer I (SynT-I) and in the proper morphogenesis of both fetal and maternal vasculatures within the placenta. May also act as a modulator of nicotinic acetylcholine receptors (nAChRs) activity (By similarity)., [UniProtKB, UniProtKB, PubMed]; Innovative biomarkers TCN2 and LY6E can significantly inhibit respiratory syncytial virus infection. Publication Status: Online-Only, [RefSeq, PubMed]; LY6E protein facilitates adeno-associated virus crossing in a biomimetic chip model of the human blood-brain barrier. Publication Status: Online-Only, [RefSeq, PubMed]; Multidimension Analysis of the Prognostic Value, Immune Regulatory Function, and ceRNA Network of LY6E in Individuals with Colorectal Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene belongs to the human Ly6 gene family and encodes a glycosylphosphatidyl-inositol (GPI)-anchored cell surface protein. The protein plays an important role in T cell physiology, oncogenesis and immunological regulation. The protein is also involved in modulation of viral infection by coronaviruses, SARS-CoV, MERS-CoV and SARS-CoV-2. [provided by RefSeq, Aug 2021]., [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": 3, "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": "B2R4X5;D3DWJ2;Q0VDE5", "ec_number_list": "", "go_molecular_function": "GO:0033130 acetylcholine receptor binding;GO:0030550 acetylcholine receptor inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0045202 synapse;GO:0098552 side of membrane", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0095500 acetylcholine receptor signaling pathway;GO:0046597 host-mediated suppression of symbiont invasion", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q16553-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y5K2-1", "uniprot_id": "KLK4_HUMAN", "mass": 27032.0, "length": 254, "protein_name": "Kallikrein-4", "gene_name": "KLK4", "organism": "Human", "refseq_name": "kallikrein-4 isoform 2", "refseq_ac": "NP_001289890", "gene_names_uniprotkb": "KLK4; EMSP1; PRSS17; PSTS", "gene_names_refseq": "AI2A1; ARM1; EMSP1; EMSP; KLK-L1; KLK4; PRSS17; PSTS; kallikrein", "protein_names_uniprotkb": "Kallikrein-4; 3.4.21.-; Enamel matrix serine proteinase 1; KLK-L1; Kallikrein-like protein 1; Prostase; Serine protease 17", "protein_names_refseq": "androgen-regulated message 1; enamel matrix serine protease 1; enamel matrix serine proteinase 1; kallikrein-4 isoform 2; kallikrein-like protein 1; prostase; serine protease 17", "tax_id": 9606, "disease": "amelogenesis imperfecta type 2A1 (Disease Ontology:DOID:0110057); prostate cancer (Disease Ontology:DOID:10283); breast cancer (Disease Ontology:DOID:1612); ovarian cancer (Disease Ontology:DOID:2394)", "pathway": " (hsa:9622)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "10077646;10438493;10485467;10863090;11054574;11237011;11506707;12077288;15235027;16950394;20180634;21874303;28832583;29632711;29786170;31868942;34087483;34101307;35982181;36260980;37918799", "class_list": "", "function": "Has a major role in enamel formation (PubMed:15235027). Required during the maturation stage of tooth development for clearance of enamel proteins and normal structural patterning of the crystalline matrix (By similarity)., [UniProtKB, UniProtKB, PubMed]; Has a major role in enamel formation. Required during the maturation stage of tooth development for clearance of enamel proteins and normal structural patterning of the crystalline matrix., [UniProtKB, UniProtKB]; KLK4 Silencing Inhibits the Growth of Chromophobe Renal Cell Carcinoma through ERK/AKT Signaling Pathway., [RefSeq, PubMed]; Kallikrein-Related Peptidase 4 Promotes Proliferation, Migration, Invasion, and Pro-Angiogenesis of Endometrial Stromal Cells via Regulation of Brain-Derived Neurotrophic Factor Production in Endometriosis., [RefSeq, PubMed]; Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. In some tissues its expression is hormonally regulated. The expression pattern of a similar mouse protein in murine developing teeth supports a role for the protein in the degradation of enamel proteins. Several transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Dec 2014]., [RefSeq]; LncRNA IGF2-AS promotes the osteogenic differentiation of bone marrow mesenchymal stem cells by sponging miR-3,126-5p to upregulate KLK4., [RefSeq, PubMed]; Loss of KLK4::KLKP1 pseudogene expression by RNA chromogenic in-situ hybridization is associated with PTEN loss and increased risk of biochemical recurrence in a cohort of middle eastern men with prostate cancer., [RefSeq, PubMed]; MicroRNA-378-3p/5p represses proliferation and induces apoptosis of oral squamous carcinoma cells via targeting KLK4., [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": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "diagnostic", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q4VB16;Q96RU5;Q9GZL6;Q9UBJ6", "ec_number_list": "", "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0046872 metal ion binding;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0030141 secretory granule", "go_biological_process": "GO:0006508 proteolysis;GO:0022617 extracellular matrix disassembly;GO:0031214 biomineral tissue development;GO:0051604 protein maturation;GO:0097186 amelogenesis", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q9Y5K2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N4N3-1", "uniprot_id": "KLH36_HUMAN", "mass": 69896.0, "length": 616, "protein_name": "Kelch-like protein 36", "gene_name": "KLHL36", "organism": "Human", "refseq_name": "kelch-like protein 36 isoform 2", "refseq_ac": "NP_001290380", "gene_names_uniprotkb": "KLHL36; C16orf44", "gene_names_refseq": "C16orf44; KLHL36", "protein_names_uniprotkb": "Kelch-like protein 36", "protein_names_refseq": "kelch-like 36; kelch-like protein 36 isoform 2; kelch-like protein 36", "tax_id": 9606, "disease": "", "pathway": " (hsa:79786)", "pathway_count": 1, "publication_count": 54, "publication_id_list": "11237011;14528312;15944288;20112406;23481700;24715725;25418920;26154972;26375851;26811146;26929215;26992070;27862975;27920218;28063628;28228285;28832583;28834231;28904123;29242379;29393594;29485866;29508533;29557506;29632046;29632711;29786170;30429286;31154438;31217245;31844290;32157095;32265295;32357974;32387766;32502341;32938616;32983136;33141586;33592498;33691108;33717175;33912179;33936100;33968037;34087483;34171305;34509645;34932366;35051231;35494241;35580925;36241641;36284347", "class_list": "", "function": "Probable substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins., [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": 1, "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": "Q8N5G6;Q9H9U6", "ec_number_list": "", "go_molecular_function": "GO:0097602 cullin family protein binding;GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0031463 Cul3-RING ubiquitin ligase complex", "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": "Q8N4N3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95544-1", "uniprot_id": "NADK_HUMAN", "mass": 49228.0, "length": 446, "protein_name": "NAD kinase", "gene_name": "NADK", "organism": "Human", "refseq_name": "NAD kinase isoform 1", "refseq_ac": "NP_001185922", "gene_names_uniprotkb": "NADK", "gene_names_refseq": "NADK1; NADK; dJ283E3.1", "protein_names_uniprotkb": "NAD kinase; 2.7.1.23; Poly(P)/ATP NAD kinase", "protein_names_refseq": "NAD kinase isoform 1; poly(P)/ATP NAD kinase", "tax_id": 9606, "disease": "", "pathway": " (hsa:65220); (R-HSA-196807)", "pathway_count": 2, "publication_count": 107, "publication_id_list": "10331643;10613898;11237011;11248244;11594753;11788603;11866528;11991719;12359228;12547821;12574164;12790796;13563527;14516279;14966140;15090606;15137942;15381699;15674325;16118205;1637327;16690024;17322306;17402747;17604275;17641676;17868694;17914902;18212344;18411268;18669648;18767875;19531469;19690332;20058876;20388704;2129526;21504897;21699903;21933152;21994945;22701565;22822066;23186163;23212377;23230272;23481700;23646949;24275569;24714562;24715725;24717514;24847004;25531177;25576301;26992070;27600516;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29557506;29632046;30315122;30410026;30429286;30524438;31844290;32157095;32350084;32357974;32387766;32502341;32897882;32906142;32938616;32983136;33087354;33141586;33298915;33592498;33912179;33936100;33968037;33981976;34087483;34211107;34509645;34932366;35051231;35580925;36010968;36241641;37938771;38315451;38700533;4349867;8182091;8289818;8527488;8575745;8809081;9473669", "class_list": "", "function": "G-protein-coupled estrogen receptor 1 promotes peritoneal metastasis of gastric cancer through nicotinamide adenine dinucleotide kinase 1-mediated redox modulation., [RefSeq, PubMed]; Knockdown of NADK promotes LUAD ferroptosis via NADPH/FSP1 axis. Publication Status: Online-Only, [RefSeq, PubMed]; NADK catalyzes the transfer of a phosphate group from ATP to NAD to generate NADP, which in its reduced form acts as an electron donor for biosynthetic reactions (Lerner et al., 2001 [PubMed 11594753]).[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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A6NNN3;A8K296;B7Z434;F5GXR5;Q5QPS4;Q9H2P2;Q9H931", "ec_number_list": "2.7.1.23", "go_molecular_function": "GO:0003951 NAD+ kinase activity;GO:0005524 ATP binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0006741 NADP+ biosynthetic process;GO:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus;GO:0016310 phosphorylation;GO:0019674 NAD+ metabolic process;GO:0046034 ATP metabolic process", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "O95544-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P23193-1", "uniprot_id": "TCEA1_HUMAN", "mass": 33970.0, "length": 301, "protein_name": "Transcription elongation factor A protein 1", "gene_name": "TCEA1", "organism": "Human", "refseq_name": "transcription elongation factor A protein 1 isoform 1", "refseq_ac": "NP_006747", "gene_names_uniprotkb": "TCEA1; GTF2S; TFIIS", "gene_names_refseq": "GTF2S; SII; TCEA1; TCEA; TF2S; TFIIS", "protein_names_uniprotkb": "Transcription elongation factor A protein 1; Transcription elongation factor S-II protein 1; Transcription elongation factor TFIIS.o", "protein_names_refseq": "epididymis secretory sperm binding protein; transcription elongation factor A (SII), 1; transcription elongation factor A protein 1 isoform 1; transcription elongation factor A protein 1; transcription elongation factor S-II protein 1; transcription elongation factor TFIIS.o; transcription factor IIS", "tax_id": 9606, "disease": "", "pathway": " (hsa:6917); (R-HSA-112382); (R-HSA-167152); (R-HSA-167200); (R-HSA-167238); (R-HSA-167243); (R-HSA-167246); (R-HSA-167287); (R-HSA-167290); (R-HSA-674695); (R-HSA-6781823); (R-HSA-6781827); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-6796648); (R-HSA-75955)", "pathway_count": 16, "publication_count": 184, "publication_id_list": "10029085;10199401;10757782;10866664;10944529;10984493;11237011;11313498;11313499;11350971;11859374;11884399;11904382;11971958;11988847;12208738;12660172;12676794;12732143;1378807;14517266;14701750;15489290;15590680;15781865;16246722;16751180;17000769;17081983;1708494;17234882;17287340;17290000;17322306;17466625;17466626;17525332;17948053;17981804;18079701;18212344;18452278;18614043;18669648;18707149;18767875;18991276;19279666;19367720;1939271;19413330;19415658;19651622;19664994;19664995;19940136;19952111;20068231;20159561;20166139;20227374;20541997;21070792;21127351;21282463;21406692;22012619;22081108;22118460;22466610;22466611;22466612;22898188;22902626;22988298;23186163;23481700;23538671;23906714;23973375;24127601;24275569;24402227;2449431;24554720;24662513;24714562;24715725;25154395;25418920;25429106;25435140;25561469;25576301;25712099;25810538;26154972;26375851;26659056;26728094;26768311;26992070;27193682;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28510447;28832583;28834231;28855257;28904123;29242379;29393594;29493099;29508533;29557506;29605689;29632046;29632711;29786170;30315122;30524438;30779550;31154438;31217245;31519522;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32355176;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33592498;33691108;33717175;33936100;33981976;34019948;34087483;34211107;34229054;34357683;34433824;34822292;34932366;35051231;35154160;35318648;35561310;35580925;36284347;37217939;37938771;38787953;7626141;7660122;7660129;7660130;7700386;7853496;8078911;8112616;8370526;8876179;9063748;9326587;9450929;9489704;9699634;9716411;9875289", "class_list": "", "function": "A mutant form of TFIIS increased RNAPII pausing and backtracking results in R-loop formation and genome instability., [RefSeq, PubMed]; A ubiquitous disordered protein interaction module orchestrates transcription elongation., [RefSeq, PubMed]; Human DNA topoisomerase I poisoning causes R loop-mediated genome instability attenuated by transcription factor IIS., [RefSeq, PubMed]; Necessary for efficient RNA polymerase II transcription elongation past template-encoded arresting sites. The arresting sites in DNA have the property of trapping a certain fraction of elongating RNA polymerases that pass through, resulting in locked ternary complexes. Cleavage of the nascent transcript by S-II allows the resumption of elongation from the new 3'-terminus., [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": 9, "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": "A6NF25;A8K339;Q15563;Q6FG87", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0003711 transcription elongation factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005669 transcription factor TFIID complex", "go_biological_process": "GO:0006368 transcription elongation by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 18.7, "record_id": "P23193-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P22888-1", "uniprot_id": "LSHR_HUMAN", "mass": 78643.0, "length": 699, "protein_name": "Lutropin-choriogonadotropic hormone receptor", "gene_name": "LHCGR", "organism": "Human", "refseq_name": "lutropin-choriogonadotropic hormone receptor isoform 1 precursor", "refseq_ac": "NP_000224", "gene_names_uniprotkb": "LHCGR; LCGR; LGR2; LHRHR", "gene_names_refseq": "HHG; LCGR; LGR2; LH/CG-R; LH/CGR; LHCGR; LHRHR; LHR; LSH-R; ULG5", "protein_names_uniprotkb": "Lutropin-choriogonadotropic hormone receptor; LH/CG-R; LHR; LSH-R; Luteinizing hormone receptor", "protein_names_refseq": "hypergonadotropic hypogonadism; lutropin-choriogonadotropic hormone receptor isoform 1 precursor; lutropin-choriogonadotropic hormone receptor; lutropin/choriogonadotropin receptor", "tax_id": 9606, "disease": "familial male-limited precocious puberty (Disease Ontology:DOID:0111545); Leydig cell hypoplasia (Disease Ontology:DOID:0112259); Leydig cell hypoplasia type I (Disease Ontology:DOID:0112260); breast cancer (Disease Ontology:DOID:1612); gonadal disease (Disease Ontology:DOID:2277); Leydig cell tumor (Disease Ontology:DOID:2696); granulosa cell tumor (Disease Ontology:DOID:2999); serous cystadenocarcinoma (Disease Ontology:DOID:3114); mucinous cystadenocarcinoma (Disease Ontology:DOID:3603)", "pathway": " (hsa:3973); (R-HSA-375281); (R-HSA-418555)", "pathway_count": 3, "publication_count": 121, "publication_id_list": "10215412;10580072;10820024;11007482;11134146;11237011;11288979;11391350;11707068;11726197;11847099;12036966;12039074;12045258;12050206;12058044;12106601;12180353;12679452;12860470;1333190;13549488;14671004;1517224;15372531;15472221;15539429;15765929;15769620;15951850;16313925;16687412;16923326;16959974;1709010;17095587;17168849;18044684;18577758;19006286;19105585;1922095;19551906;19876791;19929708;20381629;21036126;2163110;21657270;2244890;2293030;2417744;24687066;2491850;2553411;2553705;25576301;2558651;25811175;26398856;26417854;26774084;28063628;2871555;29443750;29602314;29632046;30833991;3127824;31279028;31399091;31983287;32226383;32387766;32497535;32540603;32618402;32715661;33049737;35051231;37827240;37828397;38083932;38129424;38194289;39056799;6085243;6090951;7556872;7629248;7649152;7692306;7714085;7719343;7757065;7892197;8188646;8281137;8340388;8514797;8559204;8672451;8702611;8747461;8812739;8829636;8929952;9215288;9263355;9300077;9417641;9419371;9467560;9514160;9626144;9626653;9651336;9661624;9851790;9858858;9973550", "class_list": "", "function": "Correlation between LHCGR and NR5A1 genes polymorphism and male infertility risk., [RefSeq, PubMed]; Gonadotropin independent sexual precocity in a Pakistani male infant from an activating mutation in LHCGR gene., [RefSeq, PubMed]; Receptor for lutropin-choriogonadotropic hormone (PubMed:11847099). The activity of this receptor is mediated by G proteins which activate adenylate cyclase (PubMed:11847099)., [UniProtKB, PubMed]; Receptor for lutropin-choriogonadotropic hormone. The activity of this receptor is mediated by G proteins which activate adenylate cyclase., [UniProtKB, UniProtKB, UniProtKB]; Significance of LHCGR polymorphisms in polycystic ovary syndrome: an association study. Publication Status: Online-Only, [RefSeq, PubMed]; The mystery of transient pregnancy-induced cushing's syndrome: a case report and literature review highlighting GNAS somatic mutations and LHCGR overexpression. Review article, [RefSeq, PubMed]; This gene encodes the receptor for both luteinizing hormone and choriogonadotropin. This receptor belongs to the G-protein coupled receptor 1 family, and its activity is mediated by G proteins which activate adenylate cyclase. Mutations in this gene result in disorders of male secondary sexual character development, including familial male precocious puberty, also known as testotoxicosis, hypogonadotropic hypogonadism, Leydig cell adenoma with precocious puberty, and male pseudohermaphtoditism with Leydig cell hypoplasia. [provided by RefSeq, Jul 2008]., [RefSeq]; Widespread Distribution of Luteinizing Hormone/Choriogonadotropin Receptor in Human Juvenile Angiofibroma: Implications for a Sex-Specific Nasal Tumor. 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": 2, "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": 4, "reported_glycation": 0, "reported_snv": 50, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 9, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q14751;Q15996;Q9UEW9", "ec_number_list": "", "go_molecular_function": "GO:0008528 G protein-coupled peptide receptor activity;GO:0004964 luteinizing hormone receptor activity;GO:0035472 choriogonadotropin hormone receptor activity;GO:0038106 choriogonadotropin hormone binding", "go_cellular_component": "GO:0005768 endosome;GO:0005886 plasma membrane", "go_biological_process": "GO:0032962 positive regulation of inositol trisphosphate biosynthetic process;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0050890 cognition;GO:0007187 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger", "synthesized_glycan_count": 0, "hit_score": 12.6, "record_id": "P22888-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A1A5C7-1", "uniprot_id": "S22AN_HUMAN", "mass": 73748.0, "length": 686, "protein_name": "Solute carrier family 22 member 23", "gene_name": "SLC22A23", "organism": "Human", "refseq_name": "solute carrier family 22 member 23 isoform b", "refseq_ac": "NP_001273384", "gene_names_uniprotkb": "SLC22A23; C6orf85", "gene_names_refseq": "C6orf85; SLC22A23", "protein_names_uniprotkb": "Solute carrier family 22 member 23", "protein_names_refseq": "ion transporter protein; solute carrier family 22 member 23 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:63027)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "10.1038/emboj.2013.79;11237011;17714910;19068216;19174780;19422935;19760754;23584533;24740203;25880248;26154972;29557506;31611695;32938616;35051231;36010968;38400886", "class_list": "", "function": "Circular RNA CircSLC22A23 Promotes Gastric Cancer Progression by Activating HNRNPU Expression., [RefSeq, PubMed]; Genetic variations in the SLC22A23 locus contribute to the susceptibility to inflammatory bowel disease in a small fraction of white patients., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed, PubMed, PubMed]; SLC22A23 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM, Mar 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": 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": 14, "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": "A1A5C8;Q5T8B8;Q6ZMH3;Q8IW73", "ec_number_list": "", "go_molecular_function": "GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006811 monoatomic ion transport", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "A1A5C7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z4I7-1", "uniprot_id": "LIMS2_HUMAN", "mass": 38916.0, "length": 341, "protein_name": "LIM and senescent cell antigen-like-containing domain protein 2", "gene_name": "LIMS2", "organism": "Human", "refseq_name": "LIM and senescent cell antigen-like-containing domain protein 2 isoform 1", "refseq_ac": "NP_001129509", "gene_names_uniprotkb": "LIMS2; PINCH2", "gene_names_refseq": "LGMD2W; LIMS2; MDRCMTT; PINCH-2; PINCH2", "protein_names_uniprotkb": "LIM and senescent cell antigen-like-containing domain protein 2; LIM-like protein 2; PINCH-2; Particularly interesting new Cys-His protein 2", "protein_names_refseq": "ILK-binding protein; LIM and senescent cell antigen-like domains 2; LIM and senescent cell antigen-like-containing domain protein 2 isoform 1; LIM and senescent cell antigen-like-containing domain protein 2; LIM-type zinc finger domains 2; particularly interesting new Cys-His protein 2", "tax_id": 9606, "disease": "autosomal recessive limb-girdle muscular dystrophy type 2W (Disease Ontology:DOID:0110288)", "pathway": " (hsa:55679); (R-HSA-446343); (R-HSA-446353)", "pathway_count": 3, "publication_count": 34, "publication_id_list": "11237011;11331308;12167643;12679033;16531412;16959213;18508764;18669648;18940607;19963065;25576301;25589244;26992070;27590440;27846572;28510447;29493099;29557506;30379171;31154438;31530632;31848261;32157095;32752897;32938616;32983136;33298915;33592498;33912179;33968037;35051231;35580925;38665916;8538749", "class_list": "", "function": "Adapter protein in a cytoplasmic complex linking beta-integrins to the actin cytoskeleton, bridges the complex to cell surface receptor tyrosine kinases and growth factor receptors. Plays a role in modulating cell spreading and migration., [UniProtKB, PubMed]; Data indicate compound heterozygous missense mutations that are predicted to be pathogenic in LIM and senescent cell antigen-like domains 2 protein (LIMS2)., [RefSeq, PubMed]; Fluid shear stress modulates endothelial inflammation by targeting LIMS2., [RefSeq, PubMed]; LIMS2 may be useful as a molecular biomarker and a therapeutic target by increasing its expression and activity in gastric cancer, [RefSeq, PubMed]; Mammalian cells have two functional PINCH proteins, PINCH1 and PINCH2. PINCH not only binds to Nck2 and engages in the signaling of growth factor receptors, but also forms a ternary complex with ILK and parvin (IPP complex). Review article, [RefSeq, PubMed]; These results identify a novel nuclear and focal adhesion protein that associates with ILK and reveals an important role of PINCH-2 in the regulation of the PINCH-1-ILK interaction, cell shape change, and migration., [RefSeq, PubMed]; This gene encodes a member of a small family of focal adhesion proteins which interacts with ILK (integrin-linked kinase), a protein which effects protein-protein interactions with the extraceullar matrix. The encoded protein has five LIM domains, each domain forming two zinc fingers, which permit interactions which regulate cell shape and migration. A pseudogene of this gene is located on chromosome 4. Multiple 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": 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": 13, "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": "A6NLH0;B4DMV1;F5H6E6;Q7Z4I2;Q7Z4I6;Q7Z4I8;Q8NFE7;Q9HA13", "ec_number_list": "", "go_molecular_function": "GO:0046872 metal ion binding", "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:0098609 cell-cell adhesion;GO:2001046 positive regulation of integrin-mediated signaling pathway;GO:0045216 cell-cell junction organization", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q7Z4I7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86X40-1", "uniprot_id": "LRC28_HUMAN", "mass": 41912.0, "length": 367, "protein_name": "Leucine-rich repeat-containing protein 28", "gene_name": "LRRC28", "organism": "Human", "refseq_name": "leucine-rich repeat-containing protein 28 isoform 2", "refseq_ac": "NP_001271329", "gene_names_uniprotkb": "LRRC28; PRO867", "gene_names_refseq": "LRRC28", "protein_names_uniprotkb": "Leucine-rich repeat-containing protein 28", "protein_names_refseq": "leucine-rich repeat-containing protein 28 isoform 2; leucine-rich repeat-containing protein 28", "tax_id": 9606, "disease": "", "pathway": " (hsa:123355)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;12975309;19615748;23481700;24715725;29557506;31844290;32387766;34171305;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": 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": "A8KA22;Q6UY49;Q6ZSS6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q86X40-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P49006-1", "uniprot_id": "MRP_HUMAN", "mass": 19529.0, "length": 195, "protein_name": "MARCKS-related protein", "gene_name": "MARCKSL1", "organism": "Human", "refseq_name": "MARCKS-related protein", "refseq_ac": "NP_075385", "gene_names_uniprotkb": "MARCKSL1; MLP; MRP", "gene_names_refseq": "F52; MACMARCKS; MARCKSL1; MLP1; MLP; MRP", "protein_names_uniprotkb": "MARCKS-related protein; MARCKS-like protein 1; Mac-MARCKS; MacMARCKS; Macrophage myristoylated alanine-rich C kinase substrate", "protein_names_refseq": "MARCKS-like protein 1; MARCKS-related protein; mac-MARCKS; macrophage myristoylated alanine-rich C kinase substrate", "tax_id": 9606, "disease": "", "pathway": " (hsa:65108)", "pathway_count": 1, "publication_count": 74, "publication_id_list": "10.1101/2023.09.13.557529;15345747;17081983;17287340;17322306;17525332;17924679;18212344;18452278;18491316;18669648;18707149;18767875;19413330;19415658;19651622;19664994;19664995;19690332;20058876;20068231;20166139;21406692;22751924;23186163;24275569;24715725;25255805;25502872;25505266;25576301;25645385;26992070;27397612;27846572;27920218;28218747;28832583;28904123;29242379;29393594;29437277;29493099;29557506;30315122;30410026;30429286;30626607;30784271;31020640;31154438;31217245;31611695;31844290;31848261;32157095;32350084;32488085;33298915;33592498;33968037;34357683;34433824;34586620;35251023;35494241;35580925;35864549;35894387;36010968;36215666;36284347;36374807;37340044", "class_list": "", "function": "Circulating extracellular vesicle-derived MARCKSL1 is a potential diagnostic non-invasive biomarker in metastatic colorectal cancer patients. Publication Status: Online-Only, [RefSeq, PubMed]; Controls cell movement by regulating actin cytoskeleton homeostasis and filopodium and lamellipodium formation (PubMed:22751924). When unphosphorylated, induces cell migration (By similarity). When phosphorylated by MAPK8, induces actin bundles formation and stabilization, thereby reducing actin plasticity, hence restricting cell movement, including neuronal migration (By similarity). May be involved in coupling the protein kinase C and calmodulin signal transduction systems (By similarity)., [UniProtKB, UniProtKB, PubMed]; IncRNA TYMSOS Promotes Epithelial-Mesenchymal Transition and Metastasis in Thyroid Carcinoma through Regulating MARCKSL1 and Activating the PI3K/Akt Signaling Pathway., [RefSeq, PubMed]; MARCKSL1 interacted with F-actin to promote esophageal squamous cell carcinoma mobility by modulating the formation of invadopodia., [RefSeq, PubMed]; MARCKSL1-2 reverses docetaxel-resistance of lung adenocarcinoma cells by recruiting SUZ12 to suppress HDAC1 and elevate miR-200b. Publication Status: Online-Only, [RefSeq, PubMed]; METTL14-Mediated miR-30c-1-3p Maturation Represses the Progression of Lung Cancer via Regulation of MARCKSL1 Expression., [RefSeq, PubMed]; This gene encodes a member of the myristoylated alanine-rich C-kinase substrate (MARCKS) family. Members of this family play a role in cytoskeletal regulation, protein kinase C signaling and calmodulin signaling. The encoded protein affects the formation of adherens junction. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are located on the long arm of chromosomes 6 and 10. [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": 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": 27, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "D3DPQ0;Q5TEE6;Q6NXS5", "ec_number_list": "", "go_molecular_function": "GO:0005516 calmodulin binding;GO:0051015 actin filament binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007015 actin filament organization;GO:0007417 central nervous system development", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "P49006-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WZA1-1", "uniprot_id": "PMGT1_HUMAN", "mass": 75252.0, "length": 660, "protein_name": "Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1", "gene_name": "POMGNT1", "organism": "Human", "refseq_name": "protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 isoform 2", "refseq_ac": "NP_001230695", "gene_names_uniprotkb": "POMGNT1; MGAT1.2; PRO1475", "gene_names_refseq": "GNTI.2; GnT I.2; LGMD2O; LGMDR15; MEB; MGAT1.2; POMGNT1; RP76; gnT-I.2", "protein_names_uniprotkb": "Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1; 2.4.1.-; GnT I.2; POMGnT1; UDP-GlcNAc:alpha-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I.2", "protein_names_refseq": "UDP-GlcNAc:alpha-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I.2; protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 isoform 2; protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1", "tax_id": 9606, "disease": "lissencephaly (Disease Ontology:DOID:0050453); Walker-Warburg syndrome (Disease Ontology:DOID:0050560); muscular dystrophy-dystroglycanopathy type B1 (Disease Ontology:DOID:0050588); retinitis pigmentosa 76 (Disease Ontology:DOID:0061103); congenital disorder of glycosylation Iu (Disease Ontology:DOID:0080571); autosomal recessive limb-girdle muscular dystrophy type 2O (Disease Ontology:DOID:0110292); congenital muscular dystrophy-dystroglycanopathy type A3 (Disease Ontology:DOID:0111236); muscular dystrophy-dystroglycanopathy type B3 (Disease Ontology:DOID:0112378); muscular dystrophy (Disease Ontology:DOID:9884)", "pathway": " (hsa:55624); (R-HSA-5083628); (R-HSA-8932504); (R-HSA-8932506); (R-HSA-9939291)", "pathway_count": 5, "publication_count": 69, "publication_id_list": "10545611;11237011;11592034;11709191;11741828;11742540;12369018;12588800;12788071;12941944;12966029;12975309;14627679;14699049;15121789;15207699;15236414;15466003;15792865;16575835;17030669;17034757;17044012;17878207;18195152;19067344;19299310;19587235;22172424;22223806;22522420;23125099;23186163;23217329;23329833;23359570;23390185;25279697;25279699;26687144;26908613;26923585;27130732;27391550;27493216;27733679;27909055;28512129;29477842;29493099;29557506;30429286;31154438;31222486;31844290;31949166;32149355;32157095;32350084;32938616;33175337;33610554;33968037;34015330;34357683;34561969;35154160;35251023;35843586", "class_list": "glycogene;glycosyltransferase", "function": "Compound variants of FKTN, POMGNT1, and LAMB1 gene identified by prenatal whole-exome sequencing in three fetuses with congenital hydrocephalus., [RefSeq, PubMed]; Glycosyltransferase POMGNT1 deficiency strengthens N-cadherin-mediated cell-cell adhesion., [RefSeq, PubMed]; Identification of a novel missense c.386G > A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy., [RefSeq, PubMed]; Participates in O-mannosyl glycosylation by catalyzing the addition of N-acetylglucosamine to O-linked mannose on glycoproteins (PubMed:11709191, PubMed:27493216, PubMed:28512129). Catalyzes the synthesis of the GlcNAc(beta1-2)Man(alpha1-)O-Ser/Thr moiety on alpha-dystroglycan and other O-mannosylated proteins, providing the necessary basis for the addition of further carbohydrate moieties (PubMed:11709191, PubMed:27493216). Is specific for alpha linked terminal mannose and does not have MGAT3, MGAT4, MGAT5, MGAT7 or MGAT8 activity., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a type II transmembrane protein that resides in the Golgi apparatus. It participates in O-mannosyl glycosylation and is specific for alpha linked terminal mannose. Mutations in this gene may be associated with muscle-eye-brain disease and several congenital muscular dystrophies. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 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": 1, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 1046, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 9, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DQ16;Q5VST2;Q5VST3;Q9BV55;Q9H9L8;Q9NXF9;Q9NYF7", "ec_number_list": "2.7.8.-;2.4.1.-;2.4.2.61", "go_molecular_function": "GO:0030145 manganese ion binding;GO:0008375 acetylglucosaminyltransferase activity;GO:0030246 carbohydrate binding;GO:0047223 beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0016020 membrane", "go_biological_process": "GO:0006493 protein O-linked glycosylation;GO:0016266 protein O-linked glycosylation via N-acetyl-galactosamine", "synthesized_glycan_count": 198, "hit_score": 7.0, "record_id": "Q8WZA1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P09923-1", "uniprot_id": "PPBI_HUMAN", "mass": 56812.0, "length": 528, "protein_name": "Intestinal-type alkaline phosphatase", "gene_name": "ALPI", "organism": "Human", "refseq_name": "intestinal-type alkaline phosphatase precursor", "refseq_ac": "NP_001622", "gene_names_uniprotkb": "ALPI", "gene_names_refseq": "ALPI; IAP", "protein_names_uniprotkb": "Intestinal-type alkaline phosphatase; 3.1.3.1; IAP; Intestinal alkaline phosphatase", "protein_names_refseq": "Kasahara isozyme; alkaline phosphomonoesterase; glycerophosphatase; intestinal alkaline phosphatase; intestinal-type alkaline phosphatase precursor; intestinal-type alkaline phosphatase", "tax_id": 9606, "disease": "inflammatory bowel disease (Disease Ontology:DOID:0050589); ulcerative colitis (Disease Ontology:DOID:8577); Crohn's disease (Disease Ontology:DOID:8778)", "pathway": " (hsa:248); (R-HSA-1483166); (R-HSA-163125); (R-HSA-8935690)", "pathway_count": 4, "publication_count": 86, "publication_id_list": "10455175;10506173;10553003;10681567;11031251;11072085;11112443;11123935;11237011;11788596;11830583;12063250;12161451;12359733;12522102;12963729;14573790;1458595;15367102;15951572;16460752;16495223;16620771;16704971;16864775;17028579;17170135;17322306;17707131;18238778;18718904;18767875;19336658;19666841;19960363;20068231;20112406;20705608;21173190;22777291;22922100;2297756;23176821;23176823;23269669;23807634;2443973;24966474;26711011;26992070;2841341;2925608;29393594;29557506;30192525;31154438;33214551;34087483;3422494;3443302;3458202;3468508;3469665;35051231;35580925;35694541;36047100;3697102;37074911;37300991;37870235;7060561;7821823;7902563;8095028;8163052;8186247;8300559;8390480;8530346;8687421;9079676;9188469;9212163;9461603;9582313", "class_list": "", "function": "Alkaline phosphatase that can hydrolyze various phosphate compounds., [UniProtKB, UniProtKB]; Characterization and Structure of Alternatively Spliced Transcript Variant of Human Intestinal Alkaline Phosphatase (ALPI) Gene., [RefSeq, PubMed]; Effect of Surgery on Postoperative Levels of the Gut Homeostasis-Regulating Enzyme Intestinal Alkaline Phosphatase., [RefSeq, PubMed]; Intestinal Alkaline Phosphatase Prevents Sulfate Reducing Bacteria-Induced Increased Tight Junction Permeability by Inhibiting Snail Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; The role of intestinal alkaline phosphatase in the development of necrotizing enterocolitis. Review article, [RefSeq, PubMed]; There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The intestinal alkaline phosphatase gene encodes a digestive brush-border enzyme. This enzyme is a component of the gut mucosal defense system and is thought to function in the detoxification of lipopolysaccharide, and in the prevention of bacterial translocation in the gut. [provided by RefSeq, Dec 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": 2, "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": 10, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 33, "disease_count": 3, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2R7Y4;Q53S80;Q9UBV5;Q9UCL2", "ec_number_list": "3.4.11.9;3.5.1.92;3.1.3.1;3.9.1.1;3.1.3.2;3.4.17.12;3.1.3.5;3.1.3.48;3.1.4.50;3.2.2.6;2.4.2.31;3.4.21.-", "go_molecular_function": "GO:0004035 alkaline phosphatase activity;GO:0000287 magnesium ion binding;GO:0002020 protease binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0098552 side of membrane", "go_biological_process": "GO:0016311 dephosphorylation", "synthesized_glycan_count": 0, "hit_score": 12.4, "record_id": "P09923-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75679-1", "uniprot_id": "RFPL3_HUMAN", "mass": 35386.0, "length": 317, "protein_name": "Ret finger protein-like 3", "gene_name": "RFPL3", "organism": "Human", "refseq_name": "ret finger protein-like 3 isoform 1", "refseq_ac": "NP_001092005", "gene_names_uniprotkb": "RFPL3", "gene_names_refseq": "RFPL3; RNF120", "protein_names_uniprotkb": "Ret finger protein-like 3", "protein_names_refseq": "ret finger protein-like 3 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10738)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "10508838;18656177;25107902;25481043;26318425;29749533;33082305", "class_list": "", "function": "(Microbial infection) Stimulates the activity of Human Immunodeficiency Virus 1/HIV-1 pre-integration complex., [UniProtKB, PubMed]; EGF significantly upregulated RFPL3 and hTERT protein levels in the nonsmall cell lung cancer cells. RFPL3 and hTERT proteins upregulation by EGF were attenuated by pretreatment with AG1478 and erlotinib. EGF promoted proliferation and inhibited apoptosis; PD98059 decreased RFPL3 and hTERT protein expression; and RFPL3 overexpression increased the expression of hTERT and related MEKpathway proteins, [RefSeq, PubMed]; Importin 13 promotes NSCLC progression by mediating RFPL3 nuclear translocation and hTERT expression upregulation. Publication Status: Online-Only, [RefSeq, PubMed]; RFPL3 and CBP have roles in upregulating hTERT activity and promoting lung cancer growth, [RefSeq, PubMed]; RFPL3 is a potential stimulator of human immunodeficiency virus, type 1 (HIV-1) preintegration complex integration., [RefSeq, PubMed]; The human RFPL1,2,3 genes have a role in neocortex development, [RefSeq, PubMed]; These results demonstrate that RFPL3 is an important cellular factor which promotes lung cancer growth by activating hTERT 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": 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": "A2A279;Q6IC03;Q6IC04;Q6NSX3;Q8N5R4", "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_biological_process": "GO:0045087 innate immune response;GO:0010468 regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "O75679-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZMT1-1", "uniprot_id": "STAC2_HUMAN", "mass": 45009.0, "length": 411, "protein_name": "SH3 and cysteine-rich domain-containing protein 2", "gene_name": "STAC2", "organism": "Human", "refseq_name": "SH3 and cysteine-rich domain-containing protein 2 isoform 1", "refseq_ac": "NP_945344", "gene_names_uniprotkb": "STAC2", "gene_names_refseq": "24b2/STAC2; 24b2; STAC2", "protein_names_uniprotkb": "SH3 and cysteine-rich domain-containing protein 2; 24b2/STAC2; Src homology 3 and cysteine-rich domain-containing protein 2", "protein_names_refseq": "SH3 and cysteine-rich domain-containing protein 2 isoform 1; SH3 and cysteine-rich domain-containing protein 2; SRC homology 3 and cysteine-rich domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:342667)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;18212344;29078335;35051231", "class_list": "", "function": "Plays a redundant role in promoting the expression of calcium channel CACNA1S at the cell membrane, and thereby contributes to increased channel activity. Slows down the inactivation rate of the calcium channel CACNA1C. Negative regulator of osteoclastogenesis. Following TNFSF11/RANKL stimulation, interacts with TNFRSF11A/RANK and interferes with the formation of the TNFRSF11A signaling complex, leading to the suppression of TNFSF11-initiated NF-kappa-B and MAPK signaling pathways. Impairs TNFSF11-induced, BTK/TEC-catalyzed PLCG2 phosphorylation and activation (By similarity)., [UniProtKB, UniProtKB]; This gene encodes a protein containing an SH3 domain and a zinc finger domain. The encoded protein has been shown to regulate calcium channel inactivation in a human cell line. Reduced expression of this gene has been observed in human heart failure. [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": 1, "reported_mutagensis": 3, "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": "Q32MA3", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005829 cytosol;GO:0045121 membrane raft;GO:0042383 sarcolemma;GO:0009898 cytoplasmic side of plasma membrane", "go_biological_process": "GO:0003009 skeletal muscle contraction;GO:1903078 positive regulation of protein localization to plasma membrane;GO:0045671 negative regulation of osteoclast differentiation;GO:1901387 positive regulation of voltage-gated calcium channel activity", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q6ZMT1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O00206-1", "uniprot_id": "TLR4_HUMAN", "mass": 95680.0, "length": 839, "protein_name": "Toll-like receptor 4", "gene_name": "TLR4", "organism": "Human", "refseq_name": "toll-like receptor 4 isoform C", "refseq_ac": "NP_003257", "gene_names_uniprotkb": "TLR4", "gene_names_refseq": "ARMD10; CD284; TLR-4; TLR4; TOLL", "protein_names_uniprotkb": "Toll-like receptor 4; hToll", "protein_names_refseq": "hToll; homolog of Drosophila toll; toll like receptor 4 protein; toll-like receptor 4 isoform C", "tax_id": 9606, "disease": "invasive aspergillosis (Disease Ontology:DOID:0050073); sinusitis (Disease Ontology:DOID:0050127); alcohol dependence (Disease Ontology:DOID:0050741); renal fibrosis (Disease Ontology:DOID:0050855); stroke (Disease Ontology:DOID:0051061); colitis (Disease Ontology:DOID:0060180); ileitis (Disease Ontology:DOID:0060189); mastoiditis (Disease Ontology:DOID:0060322); respiratory allergy (Disease Ontology:DOID:0060496); metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); herpes simplex virus keratitis (Disease Ontology:DOID:0080158); meningococcal meningitis (Disease Ontology:DOID:0080176); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); urinary tract infection (Disease Ontology:DOID:0080784); acute necrotizing pancreatitis (Disease Ontology:DOID:0080998); hymenolepiasis (Disease Ontology:DOID:10074); dry eye syndrome (Disease Ontology:DOID:10140); dermatomyositis (Disease Ontology:DOID:10223); stomach cancer (Disease Ontology:DOID:10534); pre-eclampsia (Disease Ontology:DOID:10591); pleural tuberculosis (Disease Ontology:DOID:106); Alzheimer's disease (Disease Ontology:DOID:10652); mastitis (Disease Ontology:DOID:10690); primary open angle glaucoma (Disease Ontology:DOID:1070); kidney failure (Disease Ontology:DOID:1074); otitis media (Disease Ontology:DOID:10754); cholesteatoma of middle ear (Disease Ontology:DOID:10964); pulpitis (Disease Ontology:DOID:11121); anogenital venereal wart (Disease Ontology:DOID:11168); allergic conjunctivitis (Disease Ontology:DOID:11204); sciatic neuropathy (Disease Ontology:DOID:11446); suppurative otitis media (Disease Ontology:DOID:11506); hepatorenal syndrome (Disease Ontology:DOID:11823); tympanosclerosis (Disease Ontology:DOID:1214); vitiligo (Disease Ontology:DOID:12306); alcoholic hepatitis (Disease Ontology:DOID:12351); respiratory syncytial virus infectious disease (Disease Ontology:DOID:1273); carotid stenosis (Disease Ontology:DOID:13001); uveitis (Disease Ontology:DOID:13141); Behcet's disease (Disease Ontology:DOID:13241); temporal arteritis (Disease Ontology:DOID:13375); Kawasaki disease (Disease Ontology:DOID:13378); low tension glaucoma (Disease Ontology:DOID:13544); exfoliation syndrome (Disease Ontology:DOID:13641); familial combined hyperlipidemia (Disease Ontology:DOID:13809); alcoholic liver cirrhosis (Disease Ontology:DOID:14018); anterior uveitis (Disease Ontology:DOID:1407); cystic fibrosis (Disease Ontology:DOID:1485); cystic echinococcosis (Disease Ontology:DOID:1495); alcohol use disorder (Disease Ontology:DOID:1574); breast cancer (Disease Ontology:DOID:1612); melanoma (Disease Ontology:DOID:1909); brain ischemia (Disease Ontology:DOID:2316); arteriosclerosis (Disease Ontology:DOID:2349); multiple sclerosis (Disease Ontology:DOID:2377); asthma (Disease Ontology:DOID:2841); pulmonary tuberculosis (Disease Ontology:DOID:2957); familial Mediterranean fever (Disease Ontology:DOID:2987); acute kidney failure (Disease Ontology:DOID:3021); allergic contact dermatitis (Disease Ontology:DOID:3042); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); atopic dermatitis (Disease Ontology:DOID:3310); coronary artery disease (Disease Ontology:DOID:3393); carotid artery disease (Disease Ontology:DOID:3407); middle cerebral artery infarction (Disease Ontology:DOID:3525); glucose metabolism disease (Disease Ontology:DOID:4194); macular degeneration (Disease Ontology:DOID:4448); allergic rhinitis (Disease Ontology:DOID:4481); keratitis (Disease Ontology:DOID:4677); pancreatitis (Disease Ontology:DOID:4989); liver cirrhosis (Disease Ontology:DOID:5082); eye disease (Disease Ontology:DOID:5614); uric acid nephrolithiasis (Disease Ontology:DOID:580); myocardial infarction (Disease Ontology:DOID:5844); primary immunodeficiency disease (Disease Ontology:DOID:612); acne (Disease Ontology:DOID:6543); hepatocellular carcinoma (Disease Ontology:DOID:684); ankylosing spondylitis (Disease Ontology:DOID:7147); end stage renal disease (Disease Ontology:DOID:783); arthritis (Disease Ontology:DOID:848); lung disease (Disease Ontology:DOID:850); collagen disease (Disease Ontology:DOID:854); perinatal necrotizing enterocolitis (Disease Ontology:DOID:8677); cholesteatoma (Disease Ontology:DOID:869); psoriasis (Disease Ontology:DOID:8893); diabetic retinopathy (Disease Ontology:DOID:8947); cutaneous leishmaniasis (Disease Ontology:DOID:9111); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); pulmonary emphysema (Disease Ontology:DOID:9675); diabetic neuropathy (Disease Ontology:DOID:9743); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:7099); (R-HSA-1236974); (R-HSA-140534); (R-HSA-166016); (R-HSA-166058); (R-HSA-166166); (R-HSA-2562578); (R-HSA-5602498); (R-HSA-5603041); (R-HSA-5686938); (R-HSA-936964); (R-HSA-937041); (R-HSA-937072); (R-HSA-9707616); (R-HSA-975163); (R-HSA-9820960); (R-HSA-9824878); (R-HSA-9833110); (R-HSA-9918481)", "pathway_count": 19, "publication_count": 280, "publication_id_list": "10198158;10201950;10381560;10465784;10702308;10835634;10882101;11057907;11081518;11104518;11237011;11274165;11387216;11477410;11509636;11514453;11544529;11607032;11706042;11724772;11747608;11960013;12110890;12130498;12138165;12140561;12181749;12214235;12242293;12297423;12356737;12447441;12447442;12471095;12511571;12609980;12620240;12637671;12692549;12724322;12738639;12752666;12817025;12855817;14517278;14519765;14519844;14556004;14625308;14703513;14739303;14762106;14976261;15084397;15175654;15210742;15265881;15276183;15327770;15340161;15356101;15585605;15596121;15665827;15761026;15809303;15814722;15829498;15852007;15944945;16024789;16115877;16186825;16213021;16260493;16303959;16306936;16306937;16439361;16467847;16547522;16603398;16622205;16706818;16751103;16754682;16757566;16834340;16855214;16878026;16879199;16964262;16971956;17047224;17098818;17135271;17141195;17157040;17292937;17414051;17462092;17478729;17485511;17496917;17526488;17599067;17726518;17767165;17803912;17823124;17878161;17878374;17890055;17893200;18006707;18037887;18070880;18070982;18222170;18233961;18297073;18354232;18420935;18438411;18559343;18669862;18692471;18810425;18826495;18829464;18990700;19112167;19217269;19224918;19252480;19278658;19326213;19498957;19506249;19509286;19541348;19592493;19592497;19656901;19675569;19710360;19846529;19847953;19898473;19924287;20037584;20047764;20058876;20308068;20410276;20473308;20485341;20557879;20581824;20711192;20817722;20865800;20966070;21393102;21479263;21602844;21606490;21625017;21737329;21737330;21854645;21862579;21871094;21911577;21920464;21931591;22078883;22090124;22123964;22153078;22158869;22320262;22344226;22363519;22441122;22454496;22489132;22560646;22761186;23275193;23446148;23453969;23453971;23453972;23569230;23613522;23671363;23880187;23949880;24265315;24316379;2462607;24648938;2477488;24833748;24840642;24959291;25083866;2539258;25736436;25787250;25825441;25854864;25880347;26092250;26322080;27022195;27108190;27538435;27742543;27754849;28111073;28334607;29038465;29242379;29427996;29557506;29786170;29902443;30115681;30573680;30599162;31154438;31608988;31748741;31844290;32354867;32387766;32502341;32695117;32894580;32938616;33043033;33141586;33177556;33392160;3345742;33592498;33968037;34357683;35051231;35215846;3537192;35580925;36102648;36241641;36945827;37344492;37817319;38378891;38670073;39062973;39190378;39248482;39266214;39276234;7685021;8415693;8622974;8837778;8887638;9008162;9079689;9144434;9237759;9430229;9435236;9566918;9665271;9744859", "class_list": "", "function": "Examination of a variant as candidate gene for age related macular degeneration susceptibility GeneRIF: Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]; Hepatitis B surface antigen impairs TLR4 signaling by upregulating A20 expression in monocytes., [RefSeq, PubMed]; S100A9 and HMGB1 orchestrate MDSC-mediated immunosuppression in melanoma through TLR4 signaling. Publication Status: Online-Only, [RefSeq, PubMed]; TLR2 and TLR4 Are Expressed in Epiretinal Membranes: Possible Links with Vitreous Levels of Complement Fragments and DAMP-Related Proteins. Publication Status: Online-Only, [RefSeq, PubMed]; TNFAIP3 Overexpression Inhibits Diffuse Large B-Cell Lymphoma Progression by Promoting Autophagy through TLR4/MyD88/NF-kappaB Signaling Pathway., [RefSeq, PubMed]; The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. In silico studies have found a particularly strong binding of surface TLR4 with the spike protein of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the causative agent of Coronavirus disease-2019 (COVID-19). This receptor has also been implicated in signal transduction events induced by lipopolysaccharide (LPS) found in most gram-negative bacteria. Mutations in this gene have been associated with differences in LPS responsiveness, and with susceptibility to age-related macular degeneration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2020]., [RefSeq]; Transmembrane receptor that functions as a pattern recognition receptor recognizing pathogen- and damage-associated molecular patterns (PAMPs and DAMPs) to induce innate immune responses via downstream signaling pathways (PubMed:10835634, PubMed:15809303, PubMed:16622205, PubMed:17292937, PubMed:17478729, PubMed:20037584, PubMed:20711192, PubMed:23880187, PubMed:27022195, PubMed:29038465, PubMed:17803912, PubMed:15852007). At the plasma membrane, cooperates with LY96 to mediate the innate immune response to bacterial lipopolysaccharide (LPS) (PubMed:27022195). Also involved in LPS-independent inflammatory responses triggered by free fatty acids, such as palmitate, and Ni(2+) (PubMed:20711192). Mechanistically, acts via MYD88, TIRAP and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response (PubMed:10835634, PubMed:21393102, PubMed:27022195, PubMed:36945827, PubMed:9237759). Alternatively, CD14-mediated TLR4 internalization via endocytosis is associated with the initiation of a MYD88-independent signaling via the TICAM1-TBK1-IRF3 axis leading to type I interferon production (PubMed:14517278). In addition to the secretion of proinflammatory cytokines, initiates the activation of NLRP3 inflammasome and formation of a positive feedback loop between autophagy and NF-kappa-B signaling cascade (PubMed:32894580). In complex with TLR6, promotes inflammation in monocytes/macrophages by associating with TLR6 and the receptor CD86 (PubMed:23880187). Upon ligand binding, such as oxLDL or amyloid-beta 42, the TLR4:TLR6 complex is internalized and triggers inflammatory response, leading to NF-kappa-B-dependent production of CXCL1, CXCL2 and CCL9 cytokines, via MYD88 signaling pathway, and CCL5 cytokine, via TICAM1 signaling pathway (PubMed:23880187). In myeloid dendritic cells, vesicular stomatitis virus glycoprotein G but not LPS promotes the activation of IRF7, leading to type I IFN production in a CD14-dependent manner (PubMed:15265881, PubMed:23880187). Required for the migration-promoting effects of ZG16B/PAUF on pancreatic cancer cells., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Tropomodulin1 exacerbates inflammatory response in macrophages by negatively regulating LPS-induced TLR4 endocytosis. 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": 2, "mined_n_glycosites": 2, "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": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 9, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 9, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 71, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 93, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "A8K1Y8;A9XLP9;A9XLQ0;A9XLQ1;B4E194;D1CS52;D1CS53;Q5VZI8;Q5VZI9;Q9UK78;Q9UM57", "ec_number_list": "", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0005102 signaling receptor binding;GO:0042802 identical protein binding;GO:0046982 protein heterodimerization activity;GO:0001540 amyloid-beta binding", "go_cellular_component": "GO:0001891 phagocytic cup;GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0032727 positive regulation of interferon-alpha production;GO:0043032 positive regulation of macrophage activation;GO:0032700 negative regulation of interleukin-17 production;GO:0002246 wound healing involved in inflammatory response;GO:0016046 detection of fungus", "synthesized_glycan_count": 0, "hit_score": 29.2, "record_id": "O00206-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q32M78-1", "uniprot_id": "ZN699_HUMAN", "mass": 73956.0, "length": 642, "protein_name": "Zinc finger protein 699", "gene_name": "ZNF699", "organism": "Human", "refseq_name": "zinc finger protein 699", "refseq_ac": "NP_940937", "gene_names_uniprotkb": "ZNF699", "gene_names_refseq": "DEGCAGS; ZNF699; hang", "protein_names_uniprotkb": "Zinc finger protein 699; Hangover homolog", "protein_names_refseq": "hangover homolog; hangover, Drosophila, homolog of; zinc finger protein 699", "tax_id": 9606, "disease": "DEGCAGS syndrome (MONDO:MONDO:0859181)", "pathway": " (hsa:374879); (R-HSA-212436)", "pathway_count": 2, "publication_count": 26, "publication_id_list": "10235266;10330177;11395415;14519192;15175151;15896744;16606702;16719718;16940975;2163759;25892735;26368818;28218747;29557506;29769354;31844290;32157095;32938616;33717175;33875846;33968037;35051231;8183939;8769649;9637681;9653119", "class_list": "", "function": "In analyses of genetically independent cases and controls, four of the seven single markers show strong evidence for association with alcohol dependence, and the most significant single marker, rs7254880, tags an associated haplotype with frequency 0.071. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB]; Results show no associations between polymorphisms in ZNF699 and alcohol dependence per se but s significant allelic association was found between rs7254880 in ZNF699 and alcohol-related cirrhosis., [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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8N9A1", "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_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": 2.7, "record_id": "Q32M78-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q969S3-1", "uniprot_id": "ZN622_HUMAN", "mass": 54272.0, "length": 477, "protein_name": "Cytoplasmic 60S subunit biogenesis factor ZNF622", "gene_name": "ZNF622", "organism": "Human", "refseq_name": "cytoplasmic 60S subunit biogenesis factor ZNF622", "refseq_ac": "NP_219482", "gene_names_uniprotkb": "ZNF622; ZPR9", "gene_names_refseq": "ZNF622; ZPR9", "protein_names_uniprotkb": "Cytoplasmic 60S subunit biogenesis factor ZNF622; Zinc finger protein 622; Zinc finger-like protein 9", "protein_names_refseq": "cytoplasmic 60S subunit biogenesis factor ZNF622; zinc finger-like protein 9", "tax_id": 9606, "disease": "azoospermia (Disease Ontology:DOID:14227)", "pathway": " (hsa:90441)", "pathway_count": 1, "publication_count": 65, "publication_id_list": "11802789;12645566;18669648;20068231;21771788;21993680;22223895;24397554;24714562;24715725;25576301;26154972;26288249;26728094;26811146;27346687;27600516;28063628;28218747;28228285;28832583;28904123;29242379;29393594;29437277;29493099;29508533;29557506;30315122;30379171;30429286;30484775;30779550;30833945;31222486;31530632;31844290;31848261;32157095;32265295;32350084;32357974;32387766;32502341;32669547;32897882;32938616;32983136;33298915;33592498;33711283;33717175;33912179;33968037;33981976;34087483;34405274;34932366;35051231;35251023;35580925;36010968;36241641;36581221;38665916", "class_list": "", "function": "Pre-60S-associated cytoplasmic factor involved in the cytoplasmic maturation of the 60S subunit., [UniProtKB, PubMed]; Results from a study on gene expression variability markers in early-stage human embryos shows that ZNF622 is a putative expression variability marker for the 3-day, 8-cell embryo stage. Publication Status: Online-Only, [RefSeq, PubMed]; ZPR9 plays an important role in modulation of the transactivation by B-MYB and cellular growth of neuroblastoma cells, [RefSeq, PubMed]; ZPR9 was found to physically interact with ASK1 through a disulfide linkage;ZPR9 functions as a novel positive regulator of ASK1., [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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:1990275 preribosome binding;GO:0003723 RNA binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005829 cytosol;GO:0030687 preribosome, large subunit precursor", "go_biological_process": "GO:0043065 positive regulation of apoptotic process;GO:0043410 positive regulation of MAPK cascade;GO:0046330 positive regulation of JNK cascade;GO:0042273 ribosomal large subunit biogenesis;GO:0033674 positive regulation of kinase activity", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q969S3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95777-1", "uniprot_id": "LSM8_HUMAN", "mass": 10403.0, "length": 96, "protein_name": "U6 snRNA-associated Sm-like protein LSm8", "gene_name": "LSM8", "organism": "Human", "refseq_name": "LSM8 homolog, U6 small nuclear RNA associated", "refseq_ac": "NP_057284", "gene_names_uniprotkb": "LSM8", "gene_names_refseq": "LSM8", "protein_names_uniprotkb": "U6 snRNA-associated Sm-like protein LSm8", "protein_names_refseq": "LSM8 U6 small nuclear RNA associated; LSM8 homolog, U6 small nuclear RNA associated; MAK31-like protein; N-alpha-acetyltransferase 38, NatC auxiliary subunit; U6 snRNA-associated Sm-like protein LSm8", "tax_id": 9606, "disease": "", "pathway": " (hsa:51691); (R-HSA-72163)", "pathway_count": 2, "publication_count": 122, "publication_id_list": "10523320;10882114;11014198;11101529;11233976;11237011;11991638;12176931;12411573;12414731;12477934;14625303;14713954;16314458;16809785;17095540;17332742;17606899;18322460;18593880;19103666;19165350;19536130;20068231;20423332;20980672;21536652;2176635;22110043;22223895;22365833;22959432;22961380;23222130;23236153;23345524;24196718;24304693;24448447;24737827;24914973;25367160;25555158;2558966;26385511;26420826;26912367;26969736;26992070;27377154;27459055;27683217;27846572;28062851;28063628;28076346;28467828;28502770;28781166;29301961;29360106;29361316;29557506;29632046;2963332;30315277;30429286;30705154;30728453;30765414;30833945;30975767;31409651;31844290;31848261;32157095;32179686;32329775;32350084;32357974;32387766;32488085;32494006;32502341;32897882;32938616;32983136;33141586;33243851;33298915;33446560;33592498;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34301950;34405274;34509645;34822310;35051231;35251023;35318648;35385551;35561310;35580925;36010968;3757028;40596516;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "Plays a role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex). The heptameric LSM2-8 complex binds specifically to the 3'-terminal U-tract of U6 snRNA., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; Plays role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex). The heptameric LSM2-8 complex binds specifically to the 3'-terminal U-tract of U6 snRNA., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a member of the like-Sm family of proteins. The encoded protein consists of a closed barrel shape, made up of five anti-parallel beta strands and an alpha helix. This protein partners with six paralogs to form a heteroheptameric ring which transiently binds U6 small nuclear RNAs and is involved in the general maturation of RNA in the nucleus. [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": 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": "", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0017070 U6 snRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0071011 precatalytic spliceosome;GO:0120115 Lsm2-8 complex;GO:0046540 U4/U6 x U5 tri-snRNP complex", "go_biological_process": "GO:0000244 spliceosomal tri-snRNP complex assembly;GO:0000387 spliceosomal snRNP assembly;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 12.5, "record_id": "O95777-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H0V9-1", "uniprot_id": "LMA2L_HUMAN", "mass": 39711.0, "length": 348, "protein_name": "VIP36-like protein", "gene_name": "LMAN2L", "organism": "Human", "refseq_name": "VIP36-like protein isoform 1 precursor", "refseq_ac": "NP_001135764", "gene_names_uniprotkb": "LMAN2L; PRO704; PSEC0028; VIPL", "gene_names_refseq": "LMAN2L; MRD69; MRT52; VIPL", "protein_names_uniprotkb": "VIP36-like protein; LMAN2-like protein; Lectin mannose-binding 2-like", "protein_names_refseq": "LMAN2-like protein; VIP36-like protein isoform 1 precursor; VIP36-like protein", "tax_id": 9606, "disease": "autosomal dominant intellectual developmental disorder 69 (Disease Ontology:DOID:0061042); autosomal recessive intellectual developmental disorder 52 (Disease Ontology:DOID:0081215)", "pathway": " (hsa:81562); (R-HSA-204005); (R-HSA-5694530)", "pathway_count": 3, "publication_count": 134, "publication_id_list": "10.1101/2023.09.13.557529;10445031;10559958;10559959;10652252;10679020;10747087;10788476;10825291;10903204;10982397;11035026;11230166;11237011;11285137;11306556;11927603;12070132;12235121;12237308;12609988;12878160;12975309;14702039;15037235;15489334;15815621;16129679;16303743;16303754;16495487;16624868;16912714;17005010;17010120;17038314;17192411;17287728;17316621;17499046;17562788;17607000;17684057;17974005;18025080;18283111;18287528;18843296;19164740;19265014;19269366;19566487;19638414;19656848;20427317;20477988;20533886;20545907;20679433;20805473;20966969;21269460;21478858;21525241;21532587;21689688;21878990;22013193;22157747;22675024;23378591;23479643;23698585;23852824;23864707;24119662;24190977;24715725;24914473;24917561;25202031;25406594;25418920;25492864;25505266;25576301;25586378;25619252;25619253;25944712;26566883;26992070;27920218;28218747;28834231;29242379;29351928;29393594;29437277;29632046;30315122;31020005;31154438;31530632;31844290;31848261;32265295;32296183;32350084;32814053;32938616;33298915;33912179;33968037;34019948;34357683;34725712;35051231;35138101;35251023;35580925;37074911;38665916;40596516;8221884;8620540;8663406;9094723;9150144;9177194;9307973;9395526;9472029;9647643", "class_list": "glycogene", "function": "Homozygous missense mutation p.R53Q in the LMAN2L gene causes autosomal recessive intellectual disability and seizures., [RefSeq, PubMed]; May be involved in the regulation of export from the endoplasmic reticulum of a subset of glycoproteins. May function as a regulator of ERGIC-53., [UniProtKB, PubMed]; Segregate a NM_001142292.1:c.1073delT mutation that eliminates LMAN2L's endoplasmic reticulum retention signal and mislocalizes the protein from that compartment to the plasma membrane Publication Status: Online-Only, [RefSeq, PubMed]; Selective interaction of VIPL and VIP36 with the deglucosylated trimannose in the D1 branch of high-mannose-type oligosaccharides but with different pH dependence., [RefSeq, PubMed]; Study showed a significant association between LMAN2L and risk of both bipolar disorder and schizophrenia, [RefSeq, PubMed]; This gene encodes a protein belonging to the L-type lectin group of type 1 membrane proteins, which function in the mammalian early secretory pathway. These proteins contain luminal carbohydrate recognition domains, which display homology to leguminous lectins. Unlike other proteins of the group, which cycle in the early secretory pathway and are predominantly associated with post endoplasmic reticulum membranes, the protein encoded by this gene is a non-cycling resident protein of the ER, where it functions as a cargo receptor for glycoproteins. It is proposed to regulate exchange of folded proteins for transport to the Golgi and exchange of misfolded glycoproteins for transport to the ubiquitin-proteasome pathway. [provided by RefSeq, Apr 2016]., [RefSeq]; VIPL terminates in the sequence KRFY, characteristic for proteins recycling between the ER and ERGIC/cis-Golgi; and knock-down of VIPL mRNA slowed secretion of two glycoproteins (35 and 250 kDa), suggesting that VIPL may function as an ER export receptor., [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": 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": 1, "reported_glycation": 0, "reported_snv": 445, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 10, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B4DSH3;D3DXH6;Q53GV3;Q53S67;Q63HN6;Q8NBQ6;Q9BQ14", "ec_number_list": "", "go_molecular_function": "GO:0046872 metal ion binding;GO:0005537 D-mannose binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0016020 membrane;GO:0030134 COPII-coated ER to Golgi transport vesicle;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0015031 protein transport;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0006457 protein folding", "synthesized_glycan_count": 0, "hit_score": 14.8, "record_id": "Q9H0V9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q14162-1", "uniprot_id": "SREC_HUMAN", "mass": 87387.0, "length": 830, "protein_name": "Scavenger receptor class F member 1", "gene_name": "SCARF1", "organism": "Human", "refseq_name": "scavenger receptor class F member 1 isoform 1 precursor", "refseq_ac": "NP_003684", "gene_names_uniprotkb": "SCARF1; KIAA0149; SREC", "gene_names_refseq": "SCARF1; SREC-I; SREC1; SREC", "protein_names_uniprotkb": "Scavenger receptor class F member 1; Acetyl LDL receptor; SREC-I; Scavenger receptor expressed by endothelial cells 1", "protein_names_refseq": "acetyl LDL receptor; scavenger receptor class F member 1 isoform 1 precursor; scavenger receptor expressed by endothelial cells 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:8578); (R-HSA-3000484)", "pathway_count": 2, "publication_count": 28, "publication_id_list": "11237011;11978792;12154095;15371419;17615582;18078691;18088087;19237602;19696406;20686127;22279061;24275569;25502872;27920218;28832583;29557506;31848261;32157095;32296440;32350084;32938616;34236384;34433824;35051231;35082161;35251023;35580925;9395444", "class_list": "", "function": "Characterization of the gene and its regulation by a novel transcription factor, endothelial zinc protein-2, [RefSeq, PubMed]; Mediates the binding and degradation of acetylated low density lipoprotein (Ac-LDL). Mediates heterophilic interactions, suggesting a function as adhesion protein. Plays a role in the regulation of neurite-like outgrowth (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Molecular and Cellular Interactions of Scavenger Receptor SR-F1 With Complement C1q Provide Insights Into Its Role in the Clearance of Apoptotic Cells. Publication Status: Online-Only, [RefSeq, PubMed]; SCARF1-Induced Efferocytosis Plays an Immunomodulatory Role in Humans, and Autoantibodies Targeting SCARF1 Are Produced in Patients with Systemic Lupus Erythematosus., [RefSeq, PubMed]; SRECI binds to SRECII and has a similar tissue distribution pattern, [RefSeq, PubMed]; The Role of SREC- in Innate Immunity to Aspergillus fumigatus Keratitis., [RefSeq, PubMed]; The protein encoded by this gene is a scavenger receptor that is expressed in endothelial cells. It regulates the uptake of chemically modified low density lipoproteins, including acetylated low density lipoprotein (Ac-LDL), and it may be involved in atherogenesis. This gene is regulated by the transcription factors ZNF444/EZF-2 and SP1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "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": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "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": 3, "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": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8MQ05;O43701;Q8NHD2;Q8NHD3;Q8NHD4;Q8NHD5", "ec_number_list": "", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0005044 scavenger receptor activity;GO:0030169 low-density lipoprotein particle binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030666 endocytic vesicle membrane", "go_biological_process": "GO:0048680 positive regulation of axon regeneration;GO:0010976 positive regulation of neuron projection development;GO:0016322 neuron remodeling;GO:0016358 dendrite development;GO:0006898 receptor-mediated endocytosis", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q14162-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96S06-1", "uniprot_id": "LMF1_HUMAN", "mass": 64873.0, "length": 567, "protein_name": "Lipase maturation factor 1", "gene_name": "LMF1", "organism": "Human", "refseq_name": "lipase maturation factor 1 isoform 1", "refseq_ac": "NP_073610", "gene_names_uniprotkb": "LMF1; C16orf26; HMFN1876; JFP11; TMEM112", "gene_names_refseq": "C16orf26; HMFN1876; JFP11; LMF1; TMEM112A; TMEM112", "protein_names_uniprotkb": "Lipase maturation factor 1; Transmembrane protein 112", "protein_names_refseq": "lipase maturation factor 1 isoform 1; transmembrane protein 112", "tax_id": 9606, "disease": "familial lipase maturation factor 1 deficiency (Disease Ontology:DOID:0111422)", "pathway": " (hsa:64788); (R-HSA-8963889)", "pathway_count": 2, "publication_count": 71, "publication_id_list": "10900462;11237011;1301939;15221005;15284087;15800215;16109723;17088546;17883852;17994020;17997385;18767875;19304573;19361614;19471043;19783858;19820022;20356926;20581395;21666694;21719679;21844202;22262056;22569073;22740495;23020258;23150577;24397894;24909692;24960069;25387803;25576301;26933753;26934567;26934667;26992070;27543614;27600516;27846572;28218747;28228285;28834231;28904123;29242379;29393594;29437277;29557506;29632046;30037590;30068531;30315122;30410026;30885219;31154438;31844290;31848261;32157095;32387766;33912179;34062067;34357683;35051231;35246399;35254053;35580925;37074911;7592670;8020465;8485124;9136889;9379936", "class_list": "", "function": "A heterozygous LMF1 nonsense variant was found in a hypertriglyceridemia-acute pancreatitis patient with severe obesity and heavy smoking, highlighting an important interplay between genetic and lifestyle factors in the etiology of hypertriglyceridemia. Publication Status: Online-Only, [RefSeq, PubMed]; Assessment of Zinc- alpha2 glycoprotein (ZAG) and Lipase Maturation Factor 1 (LMF1) concentration in children with chronic kidney disease., [RefSeq, PubMed]; Involved in the maturation of specific proteins in the endoplasmic reticulum., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Involved in the maturation of specific proteins in the endoplasmic reticulum. Required for maturation and transport of active lipoprotein lipase (LPL) through the secretory pathway. Each LMF1 molecule chaperones 50 or more molecules of LPL., [UniProtKB, PubMed, UniProtKB]; LMF1 is needed for secretion of some ER client proteins that require reduction of non-native disulfides during their folding., [RefSeq, PubMed]; Rare genetic variants of LMF1 gene identified in severe hypertriglyceridemia, [RefSeq, PubMed]; Results show that cotransfection of LPL with wild-type Lmf1 restores its ability to support normal lipase maturation., [RefSeq, PubMed]; Second novel pathogenic mutation in LMF1 gene in a patient with severe hypertriglyceridemia. Erratum:[J Clin Endocrinol Metab. 2010 Jan;95(1):465], [RefSeq, PubMed]; Severe hypertriglyceridemia secondary to splice-site and missense variants in LMF1 in three patients from Ecuador., [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B3KS80;Q68CJ3;Q96FJ4;Q9H6G4;Q9H9K7", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006641 triglyceride metabolic process;GO:0051604 protein maturation", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q96S06-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P07864-1", "uniprot_id": "LDHC_HUMAN", "mass": 36311.0, "length": 332, "protein_name": "L-lactate dehydrogenase C chain", "gene_name": "LDHC", "organism": "Human", "refseq_name": "L-lactate dehydrogenase C chain", "refseq_ac": "NP_002292", "gene_names_uniprotkb": "LDHC; LDH3; LDHX", "gene_names_refseq": "CT32; LDH3; LDHC; LDHX", "protein_names_uniprotkb": "L-lactate dehydrogenase C chain; 1.1.1.27; CT32; Cancer/testis antigen 32; LDH testis subunit; LDH-C; LDH-X", "protein_names_refseq": "L-lactate dehydrogenase C chain; LDH testis subunit; LDH-C; LDH-X; cancer/testis antigen 32; lactate dehydrogenase C4; testis secretory sperm-binding protein Li 234P", "tax_id": 9606, "disease": "disease of metabolism (Disease Ontology:DOID:0014667)", "pathway": " (hsa:3948); (R-HSA-70268)", "pathway_count": 2, "publication_count": 59, "publication_id_list": "11237011;11276087;11377399;11863375;11945601;12121650;12962632;14596586;14985855;15551868;15870898;18351441;1931970;1935931;19679512;1993674;1996957;20068231;21156174;22628558;23284632;2440048;24998673;25202825;25575590;25594249;27166188;27317664;27920218;28063628;28514659;28832583;2930531;29393594;29472561;29508533;29632046;30410026;32403431;32488085;32938616;32983136;33064660;33691108;33968037;34050611;3435492;34708888;35051231;35580925;36010968;36241641;36417180;4822737;7757881;7818469;8726225;9119391;9705294", "class_list": "", "function": "Association between serum lactate dehydrogenase and 60-day mortality in Chinese Hakka patients with acute myeloid leukemia: A cohort study., [RefSeq, PubMed]; Lactate dehydrogenase C catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis. LDHC is testis-specific and belongs to the lactate dehydrogenase family. Two transcript variants have been detected which differ in the 5' untranslated region. [provided by RefSeq, Jul 2008]., [RefSeq]; Possible role in sperm motility., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Targeting of lactate dehydrogenase C dysregulates the cell cycle and sensitizes breast cancer cells to DNA damage response targeted 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 6, "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": "D3DQY4;Q6GSG8;Q7Z7J4", "ec_number_list": "1.1.1.27", "go_molecular_function": "GO:0004459 L-lactate dehydrogenase (NAD+) activity;GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0031514 motile cilium;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006089 lactate metabolic process;GO:0042867 pyruvate catabolic process;GO:0019752 carboxylic acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "P07864-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z3D4-1", "uniprot_id": "LYSM3_HUMAN", "mass": 34538.0, "length": 306, "protein_name": "LysM and putative peptidoglycan-binding domain-containing protein 3", "gene_name": "LYSMD3", "organism": "Human", "refseq_name": "lysM and putative peptidoglycan-binding domain-containing protein 3 isoform 2", "refseq_ac": "NP_001273741", "gene_names_uniprotkb": "LYSMD3", "gene_names_refseq": "LYSMD3", "protein_names_uniprotkb": "LysM and putative peptidoglycan-binding domain-containing protein 3", "protein_names_refseq": "LysM, putative peptidoglycan-binding, domain containing 3; lysM and putative peptidoglycan-binding domain-containing protein 3 isoform 2; lysM and putative peptidoglycan-binding domain-containing protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:116068)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;11237011;17081983;18669648;19651622;20230923;23186163;23584533;25813380;25892735;26992070;28832583;28904123;29242379;29557506;29769354;29851555;30315122;30429286;30459171;31222486;31611695;31844290;32157095;32350084;32938616;32983136;33592498;33912179;33968037;34087483;34289364;34357683;34932366;35251023;36581221", "class_list": "", "function": "Essential for Golgi structural integrity., [UniProtKB, PubMed]; LYSMD3: A mammalian pattern recognition receptor for chitin., [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": 10, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 10, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 10, "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": 2, "disease_count": 0, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "Q5H9U0;Q6PEK0;Q9NTE9", "ec_number_list": "", "go_molecular_function": "GO:0042834 peptidoglycan binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane", "go_biological_process": "GO:0007030 Golgi organization", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q7Z3D4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UKR3-1", "uniprot_id": "KLK13_HUMAN", "mass": 30570.0, "length": 277, "protein_name": "Kallikrein-13", "gene_name": "KLK13", "organism": "Human", "refseq_name": "kallikrein-13 isoform 3 precursor", "refseq_ac": "NP_001335107", "gene_names_uniprotkb": "KLK13; KLKL4", "gene_names_refseq": "KLK-L4; KLK13; KLKL4", "protein_names_uniprotkb": "Kallikrein-13; 3.4.21.-; KLK-L4; Kallikrein-like protein 4", "protein_names_refseq": "kallikrein-13 isoform 3 precursor; kallikrein-13; kallikrein-like gene 4; kallikrein-like protein 4", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); ovarian carcinoma (Disease Ontology:DOID:4001)", "pathway": " (hsa:26085); (R-HSA-381426); (R-HSA-6809371)", "pathway_count": 3, "publication_count": 107, "publication_id_list": "10026136;10066784;10077652;10196183;10218588;10231017;10411887;10512690;10588656;10614670;10681634;10766816;10771479;10810289;10898936;10912521;10951195;10990447;11158056;11237011;11250653;11264294;11316783;11350120;11380615;11522292;11590230;11606061;11739083;11751371;11788658;12241545;12379487;12466191;12810533;12902340;12904166;12925213;1370451;1383255;15033990;15126567;15308688;15337775;15469690;15485880;15525596;15642270;15797384;15803139;16061697;16639001;17047378;17249697;17312271;17515931;17562024;17596512;17922479;17985932;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23629652;2476804;2479552;25926655;26091039;26390218;28832583;29582368;30647911;33015785;33234691;34704886;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543090;7543116;7588299;7683646;7689487;8781553;8817670;8824274;8894645;8964575;8999895;9395522;9497324;9565599;9709957;9733769;9786878;9922210", "class_list": "", "function": "Analysis of urinary kallikrein-related peptidase 13 for monitoring bladder cancer., [RefSeq, PubMed]; Kallikrein 13 serves as a priming protease during infection by the human coronavirus HKU1. Publication Status: Online-Only, [RefSeq, PubMed]; Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Expression of this gene is regulated by steroid hormones and may be useful as a marker for breast cancer. [provided by RefSeq, Jan 2017]., [RefSeq]; LncRNA WT-AS inhibits metastatic ability of non-small cell lung cancer by regulating KLK13., [RefSeq, PubMed]; Relatively high levels of KLK13 expression in ESCC were associated with cell proliferation and correlated with tumor progression, advanced cancer stage, and poor prognosis Erratum:[Gen Thorac Cardiovasc Surg. 2018 Jun;66(6):376-377. doi: 10.1007/s11748-018-0923-0. PMID: 29693222], [RefSeq, PubMed]; Serine proteases transmembrane protein serine 11D and kallikrein-related peptidase 13 were shown as active proteases in Cervical-vaginal fluid. Publication Status: Online-Only, [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": 14, "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": "A7UNK6;Q86VI8;Q9Y433", "ec_number_list": "3.4.21.35;3.4.21.77;3.4.21.-", "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0030141 secretory granule", "go_biological_process": "GO:0006508 proteolysis;GO:0051604 protein maturation", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "Q9UKR3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q12907-1", "uniprot_id": "LMAN2_HUMAN", "mass": 40229.0, "length": 356, "protein_name": "Vesicular integral-membrane protein VIP36", "gene_name": "LMAN2", "organism": "Human", "refseq_name": "vesicular integral-membrane protein VIP36 precursor", "refseq_ac": "NP_006807", "gene_names_uniprotkb": "LMAN2; C5orf8", "gene_names_refseq": "C5orf8; GP36B; LMAN2; VIP36", "protein_names_uniprotkb": "Vesicular integral-membrane protein VIP36; Glycoprotein GP36b; Lectin mannose-binding 2; VIP36; Vesicular integral-membrane protein 36", "protein_names_refseq": "epididymis secretory sperm binding protein; glycoprotein GP36b; vesicular integral protein of 36 kDa; vesicular integral-membrane protein 36; vesicular integral-membrane protein VIP36 precursor; vesicular integral-membrane protein VIP36", "tax_id": 9606, "disease": "", "pathway": " (hsa:10960); (R-HSA-204005); (R-HSA-5694530)", "pathway_count": 3, "publication_count": 187, "publication_id_list": "10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10444376;10445031;10559958;10559959;10652252;10679020;10747087;10788476;10825291;10903204;10982397;11035026;11237011;11285137;11306556;11359937;11927603;12070132;12235121;12237308;12609988;12754519;12878160;15037235;15489334;16129679;16303754;16495487;16624868;16912714;17005010;17010120;17038314;17169971;17192411;17287728;17316621;17499046;17562788;17607000;17684057;18025080;18283111;18287528;18843296;19164740;19265014;19269366;19566487;19638414;19656848;20068231;20427317;20477988;20533886;20545907;20679433;20805473;20966969;21269460;21478858;21525241;21532587;21689688;21878990;22013193;22157747;22299025;22675024;22703881;23090970;23269669;23378591;23479643;23481700;23698585;23701871;23852824;23864707;24119662;24190977;24275569;24715725;24917561;25202031;25406594;25418920;25492864;25502872;25576301;25586378;25619252;25619253;25813380;25944712;26154972;26375851;26811146;26992070;27397612;27600516;27765817;27846572;27862975;27920218;28218747;28228285;28467828;28514659;28649982;28832583;28834231;28904123;29242379;29393594;29437277;29508533;29557506;29632711;29741879;29786170;29789417;30315122;30410026;30429286;30626607;30779550;31092671;31154438;31217245;31530632;31535203;31844290;31848261;31998317;32119511;32157095;32350084;32357974;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34357683;34561969;34725712;34932366;35051231;35154160;35251023;35318648;35561310;35580925;35707004;36215666;36241641;36284347;37074911;37340703;37938771;38665916;40596516;40914422;8221884;8620540;8663406;9094723;9150144;9177194;9307973;9395526;9472029;9647643", "class_list": "glycogene", "function": "Comprehensive Analysis of the Expression and Prognostic Value of LMAN2 in HER2+ Breast Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Data thus reveal a Golgi-traversing pathway for exosomal release of the cargo protein GPRC5B in which CD2AP facilitates the entry and LMAN2 impedes the exit of the flux, respectively. Erratum:[J Biol Chem. 2017 Oct 6;292(40):16523. doi: 10.1074/jbc.A116.729202. PMID: 28986432], [RefSeq, PubMed]; Interaction with VIP36 is dependent on glycosylation at the same sites that allow GC-C to fold and bind ligand., [RefSeq, PubMed]; Live imaging of the canine homologous protein., [RefSeq, PubMed]; Plays a role as an intracellular lectin in the early secretory pathway. Interacts with N-acetyl-D-galactosamine and high-mannose type glycans and may also bind to O-linked glycans. Involved in the transport and sorting of glycoproteins carrying high mannose-type glycans (By similarity)., [UniProtKB]; This gene encodes a type I transmembrane lectin that shuttles between the endoplasmic reticulum, the Golgi apparatus and the plasma membrane. The encoded protein binds high mannose type glycoproteins and may facilitate their sorting, trafficking and quality control. [provided by RefSeq, Oct 2008]., [RefSeq]; White matter DNA methylation profiling reveals deregulation of HIP1, LMAN2, MOBP, and other loci in multiple system atrophy., [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": 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": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 469, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 48, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q53HH1", "ec_number_list": "", "go_molecular_function": "GO:0046872 metal ion binding;GO:0031072 heat shock protein binding;GO:0030246 carbohydrate binding;GO:0005537 D-mannose binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005615 extracellular space;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0015031 protein transport;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0050766 positive regulation of phagocytosis;GO:0006890 retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum", "synthesized_glycan_count": 0, "hit_score": 24.0, "record_id": "Q12907-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q02978-1", "uniprot_id": "M2OM_HUMAN", "mass": 34062.0, "length": 314, "protein_name": "Mitochondrial 2-oxoglutarate/malate carrier protein", "gene_name": "SLC25A11", "organism": "Human", "refseq_name": "mitochondrial 2-oxoglutarate/malate carrier protein isoform 1", "refseq_ac": "NP_003553", "gene_names_uniprotkb": "SLC25A11; OGC; SLC20A4", "gene_names_refseq": "OGC; PGL6; PPGL6; SLC20A4; SLC25A11", "protein_names_uniprotkb": "Mitochondrial 2-oxoglutarate/malate carrier protein; Alpha-oxoglutarate carrier; OGCP; SLC25A11; Solute carrier family 25 member 11", "protein_names_refseq": "OGCP; alpha-oxoglutarate carrier; mitochondrial 2-oxoglutarate/malate carrier protein isoform 1; mitochondrial 2-oxoglutarate/malate carrier protein; oxoglutarate carrier), member 11; solute carrier family 20 (oxoglutarate carrier), member 4; solute carrier family 25 (mitochondrial carrier", "tax_id": 9606, "disease": "pheochromocytoma/paraganglioma syndrome 6 (Disease Ontology:DOID:0061221)", "pathway": " (hsa:8402); (R-HSA-428643); (R-HSA-9856872)", "pathway_count": 3, "publication_count": 64, "publication_id_list": "10585886;11237011;11945784;11946196;1252077;1457818;15565635;16920706;17692818;19608861;19787704;21448454;22223895;23186163;23393310;23481700;25637873;26154972;26870663;26992070;2775751;28510447;28904123;29031613;29211846;29431636;29437277;29493099;29557506;30410026;3052244;30686754;31538237;31844290;32157095;32357974;32488085;32502341;32983136;33214551;33465208;33537174;33633747;33968037;34020084;34171305;34185709;34520823;34561969;35154160;35318648;35728586;36010968;37009826;38665916;38937634;40596516;40914422;4687397;4716993;4719206;4745729;7470147;8597574", "class_list": "", "function": "Cancer cells critically depended on the oxoglutarate carrier SLC25A11 for transporting NADH from cytosol to mitochondria as a malate form for the purpose of ATP production, [RefSeq, PubMed]; Catalyzes the transport of 2-oxoglutarate (alpha-oxoglutarate) across the inner mitochondrial membrane in an electroneutral exchange for malate (PubMed:25637873, PubMed:38937634). Can also exchange 2-oxoglutarate for other dicarboxylic acids such as malonate, succinate, maleate and oxaloacetate, although with lower affinity (By similarity). Substrate exchange across the membrane occurs consecutively with one substrate being transported first, then dissociating from the substrate binding site before the second substrate binds for transport in the opposite direction (PubMed:38937634). Does not transport glutathione (PubMed:25637873). In addition can facilitate proton transport in the presence of protonophores such as long-chain fatty acids, contributing to mitochondrial uncoupling and regulation of mitochondrial energetic efficiency (By similarity). Contributes to several metabolic processes, including the malate-aspartate shuttle, the oxoglutarate/isocitrate shuttle, gluconeogenesis from lactate, and nitrogen metabolism (By similarity). Maintains mitochondrial fusion and fission events, and the organization and morphology of cristae (PubMed:21448454). Involved in the regulation of apoptosis (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; The oxoglutarate/malate carrier transports 2-oxoglutarate across the inner membranes of mitochondria in an electroneutral exchange for malate or other dicarboxylic acids (summary by Iacobazzi et al., 1992 [PubMed 1457818]).[supplied by OMIM, Jan 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": 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": 4, "binding_glycan_count": 0, "secondary_ac_list": "F5GY65;O75537;Q969P7", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0022857 transmembrane transporter activity;GO:0015367 oxoglutarate:malate antiporter activity;GO:0015139 alpha-ketoglutarate transmembrane transporter activity;GO:0015297 antiporter activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006094 gluconeogenesis;GO:0043490 malate-aspartate shuttle;GO:0006869 lipid transport", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "Q02978-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y4Y9-1", "uniprot_id": "LSM5_HUMAN", "mass": 9937.0, "length": 91, "protein_name": "U6 snRNA-associated Sm-like protein LSm5", "gene_name": "LSM5", "organism": "Human", "refseq_name": "U6 snRNA-associated Sm-like protein LSm5 isoform b", "refseq_ac": "NP_001124182", "gene_names_uniprotkb": "LSM5", "gene_names_refseq": "LSM5; YER146W", "protein_names_uniprotkb": "U6 snRNA-associated Sm-like protein LSm5", "protein_names_refseq": "LSM5 U6 small nuclear RNA and mRNA degradation associated; LSM5 homolog, U6 small nuclear RNA associated; U6 snRNA-associated Sm-like protein LSm5 isoform b; U6 snRNA-associated Sm-like protein LSm5", "tax_id": 9606, "disease": "", "pathway": " (hsa:23658); (R-HSA-430039); (R-HSA-72163)", "pathway_count": 3, "publication_count": 127, "publication_id_list": "10369684;10523320;10882114;11014198;11101529;11233976;11237011;11283721;11991638;12176931;12218187;12411573;12414731;12417715;12477934;12486012;12515382;12923261;14625303;14713954;14749774;15085179;15231747;15475613;15711010;16051491;16141059;16246173;16299471;16314458;16809785;17095540;17245413;17332742;17606899;18039849;18322460;18593880;19061636;19103666;19165350;19239894;19279404;19536130;19664995;20423332;20980672;21536652;2176635;22110043;22223895;22365833;22959432;22961380;23222130;23236153;23345524;24196718;24304693;24366607;24448447;24737827;24914973;25555158;2558966;26385511;26420826;26912367;26969736;27377154;27459055;27683217;27846572;27920218;28062851;28076346;28218747;28502770;28781166;28904123;29242379;29301961;29360106;29361316;29557506;2963332;30192525;30315277;30705154;30728453;30765414;30833945;30975767;31154438;31409651;31530632;31844290;32179686;32329775;32488085;32494006;32938616;32983136;33243851;33446560;33592498;33717175;33968037;34171305;34301950;34357683;34822310;34932366;35385551;35580925;3757028;37938771;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "Plays a role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex) (PubMed:28781166). The heptameric LSM2-8 complex binds specifically to the 3'-terminal U-tract of U6 snRNA (PubMed:10523320)., [UniProtKB, PubMed, PubMed]; Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004]., [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": "", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0120115 Lsm2-8 complex", "go_biological_process": "GO:0000290 deadenylation-dependent decapping of nuclear-transcribed mRNA;GO:0006397 mRNA processing;GO:0000244 spliceosomal tri-snRNP complex assembly;GO:0006402 mRNA catabolic process;GO:0000387 spliceosomal snRNP assembly", "synthesized_glycan_count": 0, "hit_score": 12.8, "record_id": "Q9Y4Y9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y4W2-1", "uniprot_id": "LAS1L_HUMAN", "mass": 83065.0, "length": 734, "protein_name": "Ribosomal biogenesis protein LAS1L", "gene_name": "LAS1L", "organism": "Human", "refseq_name": "ribosomal biogenesis protein LAS1L isoform 2", "refseq_ac": "NP_001164120", "gene_names_uniprotkb": "LAS1L; MSTP060", "gene_names_refseq": "LAS1L; Las1-like; Las1; MRXSWTS; WTS; dJ475B7.2", "protein_names_uniprotkb": "Ribosomal biogenesis protein LAS1L; 3.1.-.-; Endoribonuclease LAS1L; Protein LAS1 homolog", "protein_names_refseq": "endoribonuclease LAS1L; protein LAS1 homolog; ribosomal biogenesis protein LAS1L isoform 2; ribosomal biogenesis protein LAS1L", "tax_id": 9606, "disease": "Wilson-Turner syndrome (Disease Ontology:DOID:0060814)", "pathway": " (hsa:81887); (R-HSA-6791226)", "pathway_count": 2, "publication_count": 166, "publication_id_list": "11237011;11922599;12068309;12150911;12429849;15960975;16037817;16043514;16738141;16959974;16964243;17189298;17353269;17412707;17623809;17697703;18065403;18438418;18452278;18691976;19007248;19106111;19332556;19413330;19564402;19651622;19664994;19664995;19690332;19691289;19801658;20038530;20056613;20068231;20166139;20531386;20647540;20798176;20805244;20819938;21036871;21063389;21097556;21406692;22072790;22083961;22190735;22195017;22322005;22424782;22872859;22916032;23186163;23301498;23439679;23481700;23482395;23783831;2388630;24275569;24366607;24424021;24550520;24715725;25418920;25505266;25525153;25576301;25644381;25645385;25880248;25892735;25969445;26024233;26154972;26237581;26375851;26768311;26811146;26929215;26992070;27397612;27600516;27846572;27862975;27920218;28218747;28228285;28510447;28514659;28832583;28855257;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29604477;29632046;29632711;29769354;29786170;29789417;30315122;30379171;30410026;30429286;30524438;30779550;30833945;31154438;31217245;31222486;31288032;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32522876;32897882;32938616;32983136;33091337;33141586;33298915;33392160;33592498;33633747;33664239;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34405274;34509645;34932366;35051231;35083852;35251023;35318648;35561310;35580925;36010968;36241641;36284347;36581221;37938771;39356143;40596516;9482744", "class_list": "", "function": "Data demonstrate that Las1L is essential for cell proliferation and biogenesis of the 60S ribosomal subunit., [RefSeq, PubMed]; Inhibiting beta-catenin disables nucleolar functions in triple-negative breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Required for the synthesis of the 60S ribosomal subunit and maturation of the 28S rRNA (PubMed:20647540). Functions as a component of the Five Friends of Methylated CHTOP (5FMC) complex; the 5FMC complex is recruited to ZNF148 by methylated CHTOP, leading to desumoylation of ZNF148 and subsequent transactivation of ZNF148 target genes (PubMed:22872859). Required for the efficient pre-rRNA processing at both ends of internal transcribed spacer 2 (ITS2) (PubMed:22083961)., [UniProtKB, PubMed, PubMed, PubMed]; USP36 SUMOylates Las1L and Promotes Its Function in Pre-Ribosomal RNA ITS2 Processing., [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": 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": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "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": "A9X410;Q5JXQ0;Q8TEN5;Q9H9V5", "ec_number_list": "3.6.4.13;3.1.13.-;2.7.1.78;3.1.13.1;3.4.22.-;3.1.-.-;3.1.26.-", "go_molecular_function": "GO:0003723 RNA binding;GO:0016787 hydrolase activity;GO:0004519 endonuclease activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0016020 membrane;GO:0071339 MLL1 complex", "go_biological_process": "GO:0006364 rRNA processing;GO:0000460 maturation of 5.8S rRNA;GO:0000448 cleavage in ITS2 between 5.8S rRNA and LSU-rRNA of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);GO:0000470 maturation of LSU-rRNA", "synthesized_glycan_count": 0, "hit_score": 16.9, "record_id": "Q9Y4W2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92615-1", "uniprot_id": "LAR4B_HUMAN", "mass": 80552.0, "length": 738, "protein_name": "La-related protein 4B", "gene_name": "LARP4B", "organism": "Human", "refseq_name": "la-related protein 4B isoform 1", "refseq_ac": "NP_055970", "gene_names_uniprotkb": "LARP4B; KIAA0217; LARP5", "gene_names_refseq": "KIAA0217; LARP4B; LARP5", "protein_names_uniprotkb": "La-related protein 4B; La ribonucleoprotein domain family member 4B; La ribonucleoprotein domain family member 5; La-related protein 5", "protein_names_refseq": "La ribonucleoprotein domain family member 4B; La ribonucleoprotein domain family, member 5; la-related protein 4B isoform 1; la-related protein 4B; la-related protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:23185)", "pathway_count": 1, "publication_count": 77, "publication_id_list": "11237011;16964243;17081983;17924679;18212344;18220336;18669648;18691976;18707149;18767875;19367720;19413330;19608861;19651622;19690332;20068231;20573744;23186163;23301498;24129315;24275569;24714562;24715725;26154972;26992070;27846572;28510447;28657654;28904123;29237092;29557506;30059200;30429286;31492838;31844290;32119511;32157095;32350084;32357974;32387766;32488085;32502341;32938616;32938750;32983136;33141586;33214551;33298915;33392160;33592498;33691108;33717175;33912179;33968037;33981976;34019948;34087483;34171305;34229054;35051231;35138101;35251023;35254053;35318648;35513511;35561310;35580925;36010968;36215666;37340703;37541260;37938771;38665916;38838015;39531497;39894887;40596516", "class_list": "", "function": "Stimulates mRNA translation., [UniProtKB, PubMed]; This gene encodes a member of an evolutionarily conserved protein family implicated in RNA metabolism and translation. Members of this family are characterized by the presence of an La motif, which is often located adjacent to one or more RNA recognition motifs (RRM). Together, the two motifs constitute the functional region of the protein and enable its interaction with the RNA substrate. This protein family is divided into five sub-families: the genuine La proteins and four La-related protein (LARP) sub-families. The protein encoded by this gene belongs to LARP sub-family 4. It is a cytoplasmic protein that may play a stimulatory role in translation. [provided by RefSeq, Oct 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": 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": 33, "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": 6, "binding_glycan_count": 0, "secondary_ac_list": "A7MD20;Q5T3R3;Q5T3R4;Q5T3R5;Q68CY4", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003730 mRNA 3'-UTR binding", "go_cellular_component": "GO:0005829 cytosol;GO:0016020 membrane;GO:0010494 cytoplasmic stress granule", "go_biological_process": "GO:0045727 positive regulation of translation;GO:1905870 positive regulation of 3'-UTR-mediated mRNA stabilization", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "Q92615-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BYQ9-1", "uniprot_id": "KRA48_HUMAN", "mass": 19627.0, "length": 185, "protein_name": "Keratin-associated protein 4-8", "gene_name": "KRTAP4-8", "organism": "Human", "refseq_name": "keratin-associated protein 4-8 isoform 1", "refseq_ac": "NP_114166", "gene_names_uniprotkb": "KRTAP4-8; KAP4.8; KRTAP4.8", "gene_names_refseq": "KAP4.8; KRTAP4-8; KRTAP4.8", "protein_names_uniprotkb": "Keratin-associated protein 4-8; Keratin-associated protein 4.8; Ultrahigh sulfur keratin-associated protein 4.8", "protein_names_refseq": "keratin associated protein 4.8; keratin-associated protein 4-8 isoform 1; ultrahigh sulfur keratin-associated protein 4.8", "tax_id": 9606, "disease": "", "pathway": " (hsa:728224); (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, 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": 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": "A8MSH3", "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": "Q9BYQ9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q2VYF4-1", "uniprot_id": "LETM2_HUMAN", "mass": 55921.0, "length": 491, "protein_name": "LETM1 domain-containing protein LETM2, mitochondrial", "gene_name": "LETM2", "organism": "Human", "refseq_name": "LETM1 domain-containing protein LETM2, mitochondrial isoform 1", "refseq_ac": "NP_001186588", "gene_names_uniprotkb": "LETM2", "gene_names_refseq": "LETM2; SLC55A2", "protein_names_uniprotkb": "LETM1 domain-containing protein LETM2, mitochondrial; LETM1 and EF-hand domain-containing protein 2; Leucine zipper-EF-hand-containing transmembrane protein 1-like", "protein_names_refseq": "LETM1 and EF-hand domain-containing protein 2; LETM1 domain-containing protein LETM2, mitochondrial isoform 1; LETM1 domain-containing protein LETM2, mitochondrial; leucine zipper-EF-hand containing transmembrane protein 1-like protein; leucine zipper-EF-hand containing transmembrane protein 2", "tax_id": 9606, "disease": "Wolf-Hirschhorn syndrome (Disease Ontology:DOID:0050460); mitochondrial metabolism disease (Disease Ontology:DOID:700)", "pathway": " (hsa:137994)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;18160138;25892735;26154972;29485866;29557506;29769354;36215666", "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": 7, "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": "A6NMG3;Q8NCR2;Q96LL1", "ec_number_list": "", "go_molecular_function": "GO:0022857 transmembrane transporter activity;GO:0043022 ribosome binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0007005 mitochondrion organization;GO:0006851 mitochondrial calcium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q2VYF4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96EY4-1", "uniprot_id": "TMA16_HUMAN", "mass": 23864.0, "length": 203, "protein_name": "Translation machinery-associated protein 16", "gene_name": "TMA16", "organism": "Human", "refseq_name": "translation machinery-associated protein 16", "refseq_ac": "NP_060822", "gene_names_uniprotkb": "TMA16; C4orf43", "gene_names_refseq": "C4orf43; TMA16", "protein_names_uniprotkb": "Translation machinery-associated protein 16", "protein_names_refseq": "UPF0534 protein C4orf43; translation machinery-associated protein 16", "tax_id": 9606, "disease": "", "pathway": " (hsa:55319)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "11237011;20068231;23301498;23481700;24366607;24714562;25576301;25892735;26154972;26992070;27600516;27846572;27920218;28190768;28510447;28832583;28834231;28904123;29242379;29508533;29557506;29786170;30833945;31154438;31530632;31844290;32157095;32502341;32669547;32938616;32983136;33592498;33717175;33912179;33936100;33968037;34019948;35580925;37217939", "class_list": "", "function": "Involved in the biogenesis of the 60S ribosomal subunit in the nucleus., [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": 2, "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": "Q0P6E4;Q0P6J1;Q9NUR7", "ec_number_list": "", "go_molecular_function": "GO:1990275 preribosome binding;GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus", "go_biological_process": "GO:0042273 ribosomal large subunit biogenesis", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q96EY4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UBR4-1", "uniprot_id": "LHX3_HUMAN", "mass": 43358.0, "length": 397, "protein_name": "LIM/homeobox protein Lhx3", "gene_name": "LHX3", "organism": "Human", "refseq_name": "LIM/homeobox protein Lhx3 isoform b", "refseq_ac": "NP_055379", "gene_names_uniprotkb": "LHX3", "gene_names_refseq": "CPHD3; LHX3; LIM3; M2-LHX3", "protein_names_uniprotkb": "LIM/homeobox protein Lhx3; LIM homeobox protein 3", "protein_names_refseq": "LIM homeobox protein 3; LIM/homeobox protein Lhx3 isoform b; LIM/homeobox protein Lhx3; LIM/homeodomain protein LHX3", "tax_id": 9606, "disease": "combined pituitary hormone deficiency 3 (Disease Ontology:DOID:0061021); hypopituitarism (Disease Ontology:DOID:9406)", "pathway": " (hsa:8022); (R-HSA-9010553)", "pathway_count": 2, "publication_count": 16, "publication_id_list": "10598593;10835633;11470784;15517599;16179410;17327381;19706539;21149718;23217742;23746841;25242263;26612202;28302169;31306102;32783653;35051231", "class_list": "", "function": "Generation and optimization of highly pure motor neurons from human induced pluripotent stem cells via lentiviral delivery of transcription factors., [RefSeq, PubMed]; LHX3 expression is significantly increased in carcinoma tissues, and associated with clinical stage and metastasis of patients. LHX3 expression is much higher in the advanced-stage patients than the early-stage patients, and is sharply increased in metastasic patients., [RefSeq, PubMed]; Specificity protein 1 is a regulator of both promoters through interaction with GC boxes and also, a distal element within intron 1a that is recognized by nuclear factor I is critical for hLHX3b promoter function., [RefSeq, PubMed]; The Lhx3 gene encodes two isoforms, LHX3a and LHX3b, that differ in their amino-terminal sequences. A novel LHX3 protein (M2-LHX3) is identified and it is determined that this molecule is generated by an internal translation initiation codon., [RefSeq, PubMed]; This gene encodes a member of a large family of proteins which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor that is required for pituitary development and motor neuron specification. Mutations in this gene cause combined pituitary hormone deficiency 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]., [RefSeq]; Transcription factor. Recognizes and binds to the consensus sequence motif 5'-AATTAATTA-3' in the regulatory elements of target genes, such as glycoprotein hormones alpha chain CGA and visual system homeobox CHX10, positively modulating transcription; transcription can be co-activated by LDB2. Synergistically enhances transcription from the prolactin promoter in cooperation with POU1F1/Pit-1 (By similarity). Required for the establishment of the specialized cells of the pituitary gland and the nervous system (PubMed:21149718). Involved in the development of interneurons and motor neurons in cooperation with LDB1 and ISL1 (By similarity)., [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": 5, "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": "Q5TB39;Q5TB40;Q9NZB5;Q9P0I8;Q9P0I9", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion 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: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;GO:0009887 animal organ morphogenesis", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q9UBR4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H3R0-1", "uniprot_id": "KDM4C_HUMAN", "mass": 119982.0, "length": 1056, "protein_name": "Lysine-specific demethylase 4C", "gene_name": "KDM4C", "organism": "Human", "refseq_name": "lysine-specific demethylase 4C isoform 3", "refseq_ac": "NP_001140167", "gene_names_uniprotkb": "KDM4C; GASC1; JHDM3C; JMJD2C; KIAA0780", "gene_names_refseq": "GASC1; JHDM3C; JMJD2C; KDM4C; TDRD14C", "protein_names_uniprotkb": "Lysine-specific demethylase 4C; 1.14.11.66; GASC-1 protein; Gene amplified in squamous cell carcinoma 1 protein; JmjC domain-containing histone demethylation protein 3C; Jumonji domain-containing protein 2C; [histone H3]-trimethyl-L-lysine(9) demethylase 4C", "protein_names_refseq": "JmjC domain-containing histone demethylation protein 3C; [histone H3]-trimethyl-L-lysine(9) demethylase 4C; gene amplified in squamous cell carcinoma 1 protein; jumonji domain-containing protein 2C; lysine (K)-specific demethylase 4C; lysine-specific demethylase 4C isoform 3; lysine-specific demethylase 4C; tudor domain containing 14C", "tax_id": 9606, "disease": "medulloblastoma (Disease Ontology:DOID:0050902); withdrawal disorder (Disease Ontology:DOID:0060001); prostate cancer (Disease Ontology:DOID:10283); head and neck cancer (Disease Ontology:DOID:11934); autistic disorder (Disease Ontology:DOID:12849); alcohol use disorder (Disease Ontology:DOID:1574); breast cancer (Disease Ontology:DOID:1612); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); renal cell carcinoma (Disease Ontology:DOID:4450); stomach carcinoma (Disease Ontology:DOID:5517); alopecia areata (Disease Ontology:DOID:986)", "pathway": " (hsa:23081); (R-HSA-3214842); (R-HSA-5625886)", "pathway_count": 3, "publication_count": 91, "publication_id_list": "10987278;11237011;12514133;15620353;16079795;16362057;16603237;16603238;16732292;16732293;16738407;17310255;17320163;17351631;17713478;17947579;18066052;19502796;19727073;19843542;20023638;20084082;20129925;20208542;20457893;20622853;20622854;21532585;21914792;22615488;24714562;24952432;25576301;25880248;26154972;26811146;26992070;27862975;28218747;28228285;28262558;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29563586;29632046;29632711;29769354;29786170;30410026;30429286;30524438;31217245;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33592498;33691108;33717175;33912179;33968037;33981976;34171305;34561969;34932366;35051231;35318648;35522148;35561310;35580925;36010968;36012577;36241641;36284347;36581221;36709354;37848946;38252669;38253038", "class_list": "", "function": "Essential Roles of the Histone Demethylase KDM4C in Renal Development and Acute Kidney Injury. Publication Status: Online-Only, [RefSeq, PubMed]; Focal structural variants revealed by whole genome sequencing disrupt the histone demethylase KDM4C in B-cell lymphomas. Publication Status: Online-Only, [RefSeq, PubMed]; GASC1 interacts with H3K9me3; three members of this subfamily of proteins demethylate H3K9me3/me2 in vitro through a hydroxylation reaction requiring iron and alpha-ketoglutarate as cofactors, [RefSeq, PubMed]; Histone demethylase that specifically demethylates 'Lys-9' and 'Lys-36' residues of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-4', H3 'Lys-27' nor H4 'Lys-20'. Demethylates trimethylated H3 'Lys-9' and H3 'Lys-36' residue, while it has no activity on mono- and dimethylated residues. Demethylation of Lys residue generates formaldehyde and succinate., [UniProtKB, PubMed, PubMed]; KDM4C-mediated senescence defense is a targetable vulnerability in gastric cancer harboring TP53 mutations. Publication Status: Online-Only, [RefSeq, PubMed]; The histone demethylase JMJD2C constitutes a novel NFE2 target gene that is required for the survival of JAK2[V617F] mutated cells., [RefSeq, PubMed]; The promotive role of lncRNA MIR205HG in proliferation, invasion, and migration of melanoma cells via the JMJD2C/ALKBH5 axis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the Jumonji domain 2 (JMJD2) family. The encoded protein is a trimethylation-specific demethylase, and converts specific trimethylated histone residues to the dimethylated form. This enzymatic action regulates gene expression and chromosome segregation. Chromosomal aberrations and changes in expression of this gene may be found in tumor cells. 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": 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": 29, "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": "B4E1Y4;B7ZL46;F5H347;F5H7P0;O94877;Q2M3M0;Q5JUC9;Q5VYJ2;Q5VYJ3", "ec_number_list": "1.14.11.66;1.14.11.-;1.14.11.69;2.7.11.1;2.7.11.13;1.14.11.79", "go_molecular_function": "GO:0051864 histone H3K36 demethylase activity;GO:0003713 transcription coactivator activity;GO:0008270 zinc ion binding;GO:0019899 enzyme binding;GO:0050681 nuclear androgen receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0005721 pericentric heterochromatin", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0008284 positive regulation of cell population proliferation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0030521 androgen receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 9.4, "record_id": "Q9H3R0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O14960-1", "uniprot_id": "LECT2_HUMAN", "mass": 16390.0, "length": 151, "protein_name": "Leukocyte cell-derived chemotaxin-2", "gene_name": "LECT2", "organism": "Human", "refseq_name": "leukocyte cell-derived chemotaxin-2 precursor", "refseq_ac": "NP_002293", "gene_names_uniprotkb": "LECT2", "gene_names_refseq": "LECT2; chm-II; chm2", "protein_names_uniprotkb": "Leukocyte cell-derived chemotaxin-2; LECT-2; hLECT2", "protein_names_refseq": "chondromodulin-II; leukocyte cell-derived chemotaxin-2 precursor", "tax_id": 9606, "disease": "lung adenocarcinoma (Disease Ontology:DOID:3910); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:3950)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;20103838;27334921;32350084;35251023;35976970;36055405;37657439;37877453;39206203;8877413;9524238;9545637;9832057", "class_list": "", "function": "Cryo-EM structure of a human LECT2 amyloid fibril reveals a network of polar ladders at its core., [RefSeq, PubMed]; Has a neutrophil chemotactic activity. Also a positive regulator of chondrocyte proliferation (PubMed:9524238). Does not show metalloendopeptidase activity (PubMed:27334921)., [UniProtKB, PubMed, PubMed]; Leukocyte cell-derived chemotaxin 2 correlates with pediatric non-alcoholic fatty liver disease., [RefSeq, PubMed]; Leukocyte cell-derived chemotaxin 2 regulates epithelial-mesenchymal transition and cancer stemness in hepatocellular carcinoma., [RefSeq, PubMed]; Role of LECT2 in exacerbating atopic dermatitis: insight from in vivo and in vitro models via NF-kappaB signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Serum Leukocyte Cell-Derived Chemotaxin 2 (LECT2) Level Is Associated with Osteoporosis., [RefSeq, PubMed]; This gene encodes a secreted, 16 kDa protein that acts as a chemotactic factor to neutrophils and stimulates the growth of chondrocytes and osteoblasts. This protein has high sequence similarity to the chondromodulin repeat regions of the chicken myb-induced myeloid 1 protein. A polymorphism in this gene may be associated with rheumatoid arthritis. [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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RA90;O14565;Q52M49", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006935 chemotaxis;GO:0001501 skeletal system development", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "O14960-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95382-1", "uniprot_id": "M3K6_HUMAN", "mass": 142596.0, "length": 1288, "protein_name": "Mitogen-activated protein kinase kinase kinase 6", "gene_name": "MAP3K6", "organism": "Human", "refseq_name": "mitogen-activated protein kinase kinase kinase 6 isoform 2", "refseq_ac": "NP_001284538", "gene_names_uniprotkb": "MAP3K6; ASK2; MAPKKK6; MEKK6", "gene_names_refseq": "ASK2; MAP3K6; MAPKKK6; MEKK6", "protein_names_uniprotkb": "Mitogen-activated protein kinase kinase kinase 6; 2.7.11.25; Apoptosis signal-regulating kinase 2", "protein_names_refseq": "apoptosis signal-regulating kinase 2; mitogen-activated protein kinase kinase kinase 6 isoform 2", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574); amphetamine abuse (Disease Ontology:DOID:670)", "pathway": " (hsa:9064)", "pathway_count": 1, "publication_count": 61, "publication_id_list": "11237011;16959974;17210579;17344846;18327563;18669648;18691976;19369195;19935702;22564745;23186163;25576301;25645385;25892735;26154972;26992070;27862975;28832583;28834231;28904123;29242379;29330337;29493099;29557506;29769354;29786170;30059200;30315122;30429286;30620550;31154438;31222486;31530632;31844290;31848261;32156783;32157095;32387766;32488085;32502341;32897882;32938616;32983136;33392160;33592498;33912179;33968037;33981976;34087483;34171305;34185709;34509645;35051231;35318648;35580925;36010968;36241641;36284347;37217939;37541260;9875215", "class_list": "", "function": "Apoptosis signal-regulating kinase (ASK) 2 functions as a mitogen-activated protein kinase kinase kinase in a heteromeric complex with ASK1., [RefSeq, PubMed]; Component of a protein kinase signal transduction cascade. Activates the JNK, but not ERK or p38 kinase pathways., [UniProtKB, PubMed, PubMed]; MAP3K6 should no longer be considered a gastric cancer (GC) predisposition gene, whereas deleterious CTNNA1 variants are confirmed as an infrequent cause of GC susceptibility. Biallelic MYD88 germline mutations are at most a very rare cause of GC susceptibility., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Structure-based mechanism of preferential complex formation by apoptosis signal-regulating kinases. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a serine/threonine protein kinase that forms a component of protein kinase-mediated signal transduction cascades. The encoded kinase participates in the regulation of vascular endothelial growth factor (VEGF) expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 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": 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": 13, "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": "A2ACE8;A2VDG4;A2VDG5;Q59HF4;Q5SSD4;Q75PK3;Q96B75", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0005524 ATP binding;GO:0004709 MAP kinase kinase kinase activity;GO:0106310 protein serine kinase activity", "go_cellular_component": "", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0007165 signal transduction;GO:0007254 JNK cascade;GO:0038066 p38MAPK cascade", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "O95382-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86W92-1", "uniprot_id": "LIPB1_HUMAN", "mass": 114024.0, "length": 1011, "protein_name": "Liprin-beta-1", "gene_name": "PPFIBP1", "organism": "Human", "refseq_name": "liprin-beta-1 isoform 3", "refseq_ac": "NP_001185844", "gene_names_uniprotkb": "PPFIBP1; KIAA1230", "gene_names_refseq": "L2; NEDSMBA; PPFIBP1; SGT2; hSGT2; hSgt2p", "protein_names_uniprotkb": "Liprin-beta-1; PTPRF-interacting protein-binding protein 1; Protein tyrosine phosphatase receptor type f polypeptide-interacting protein-binding protein 1; hSGT2", "protein_names_refseq": "PPFIA binding protein 1; PTPRF interacting protein, binding protein 1 (liprin beta 1); PTPRF-interacting protein-binding protein 1; liprin related protein; liprin-beta-1 isoform 3; liprin-beta-1; liprin-beta1; protein-tyrosine phosphatase receptor-type f polypeptide-interacting protein-binding protein 1", "tax_id": 9606, "disease": "neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities (MONDO:MONDO:0859283)", "pathway": " (hsa:8496); (R-HSA-388844); (R-HSA-9725370)", "pathway_count": 3, "publication_count": 178, "publication_id_list": "10216106;10556217;10702393;10706082;10706887;10934142;11110708;11237011;11280786;11310834;11504915;11751994;11836260;11850821;11943732;11988758;12112524;12185581;12424201;12750159;12800156;12920229;12934099;14962911;15169778;15208656;15374880;15588951;15750591;15895073;16153455;16161041;16170336;16825495;16871283;16939498;17081983;17086210;17353907;17416736;17483340;17625570;18097461;18452557;18593892;18594010;18669648;18701132;18724359;18923523;18923524;18923525;19252495;19456272;19459784;19608861;19690332;20068231;20139422;20454865;21134980;21164297;21213368;21262467;21406692;21415216;21494621;21596819;21656749;21838707;21847362;21940441;22249260;22286174;22327622;22347464;22357843;22570254;22658521;22869377;23104988;23139213;23186163;23201355;23239810;23345436;23481700;23661334;23957430;24060861;24120883;24275569;24445538;24475247;24496003;24518094;24613930;24736082;25342631;25385546;25393796;25421750;25576301;25645385;25813404;25908590;25921060;26001147;26062823;26301689;26375851;26992070;27245569;27573755;27600516;27846572;27862975;27869121;27874193;27920218;28218747;28228285;28404650;28446606;28659337;28741662;28832583;28834231;29242379;29393594;29455642;29493099;29508533;29557506;29786170;29873274;30131584;30315122;30379171;30429286;30484775;30692217;30779550;30833945;31154438;31222486;31366041;31844290;31848261;32157095;32265295;32357974;32488085;32502341;32938616;32983136;33298915;33592498;33717175;33968037;33981976;34171305;34405274;34561969;35051231;35318648;35580925;35830857;36010968;36240223;36241641;36284347;36527195;7796809;7824924;8633037;9624153;9819383", "class_list": "", "function": "A novel homozygous truncating variant in PPFIBP1 further delineates PPFIBP1-associated neurodevelopmental disorder., [RefSeq, PubMed]; May regulate the disassembly of focal adhesions. Did not bind receptor-like tyrosine phosphatases type 2A., [UniProtKB, PubMed, UniProtKB, UniProtKB]; New molecular target of the S100A4 protein, liprin beta1, [RefSeq, PubMed]; The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein was found to interact with S100A4, a calcium-binding protein related to tumor invasiveness and metastasis. In vitro experiment demonstrated that the interaction inhibited the phosphorylation of this protein by protein kinase C and protein kinase CK2. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [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": 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": 16, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "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": "O75336;Q86X70;Q9NY03;Q9ULJ0", "ec_number_list": "", "go_molecular_function": "GO:0045296 cadherin binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0005938 cell cortex;GO:0048786 presynaptic active zone", "go_biological_process": "GO:0007155 cell adhesion;GO:0007528 neuromuscular junction development;GO:0043622 cortical microtubule organization", "synthesized_glycan_count": 0, "hit_score": 18.2, "record_id": "Q86W92-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A087WSX0-1", "uniprot_id": "LV545_HUMAN", "mass": 13162.0, "length": 123, "protein_name": "Immunoglobulin lambda variable 5-45", "gene_name": "IGLV5-45", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "IGLV5-45", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin lambda variable 5-45", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "11872955;17576170;20176268;22158414;24600447;34357683", "class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). 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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 495, "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": 0.7, "record_id": "A0A087WSX0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q53QV2-1", "uniprot_id": "LBH_HUMAN", "mass": 12217.0, "length": 105, "protein_name": "Protein LBH", "gene_name": "LBH", "organism": "Human", "refseq_name": "protein LBH", "refseq_ac": "NP_112177", "gene_names_uniprotkb": "LBH", "gene_names_refseq": "LBH", "protein_names_uniprotkb": "Protein LBH; Limb bud and heart development protein homolog; hLBH", "protein_names_refseq": "hLBH; limb bud and heart development homolog; limb bud and heart development protein homolog; protein LBH", "tax_id": 9606, "disease": "", "pathway": " (hsa:81606)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "11230166;11237011;15958514;16094384;17081983;17390236;19651622;19664994;23186163;26154972;27846572;27920218;29242379;29493099;29557506;29632711;29786170;30410026;31844290;32357974;32938616;33298915;33592498;33912179;33968037;34000384;34445087;34932366;34975330;35051231;35154160;35580925;36010968;37268816;38297083", "class_list": "", "function": "Blocking LBH expression causes replication stress and sensitizes triple-negative breast cancer cells to ATR inhibitor treatment., [RefSeq, PubMed]; Exosomal LBH inhibits epithelial-mesenchymal transition and angiogenesis in nasopharyngeal carcinoma via downregulating VEGFA signaling. Publication Status: Online-Only, [RefSeq, PubMed]; LBH is implicated as a candidate gene for congenital heart disease associated with partial trisomy 2p syndrome Erratum:[Development. 2005 Sep;132(17):4015], [RefSeq, PubMed]; Limb-bud and heart (LBH) inhibits cellular migration, invasion and epithelial-mesenchymal transition in nasopharyngeal carcinoma via downregulating alphaB-crystallin expression., [RefSeq, PubMed]; LncRNA MIR31HG Drives Oncogenicity by Inhibiting the Limb-Bud and Heart Development Gene (LBH) during Oral Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Multi-cancer analysis reveals universal association of oncogenic LBH expression with DNA hypomethylation and WNT-Integrin signaling pathways., [RefSeq, PubMed]; These results suggest that hLBH proteins may act as a transcriptional activator in mitogen-activated protein kinase signaling pathway to mediate cellular functions., [RefSeq, PubMed]; Transcriptional activator which may act in mitogen-activated protein kinase 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": 2, "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": "B2RBC2;Q9H0Q1", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0032991 protein-containing complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription;GO:0060644 mammary gland epithelial cell differentiation;GO:0043408 regulation of MAPK cascade", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q53QV2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H7P6-1", "uniprot_id": "MB12B_HUMAN", "mass": 35620.0, "length": 319, "protein_name": "Multivesicular body subunit 12B", "gene_name": "MVB12B", "organism": "Human", "refseq_name": "multivesicular body subunit 12B isoform 2", "refseq_ac": "NP_001011703", "gene_names_uniprotkb": "MVB12B; C9orf28; FAM125B", "gene_names_refseq": "C9orf28; FAM125B; MVB12B", "protein_names_uniprotkb": "Multivesicular body subunit 12B; ESCRT-I complex subunit MVB12B; Protein FAM125B", "protein_names_refseq": "ESCRT-I complex subunit MVB12B; family with sequence similarity 125, member B; multivesicular body subunit 12B isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:89853); (R-HSA-162588); (R-HSA-174490); (R-HSA-917729); (R-HSA-9610379); (R-HSA-9615710)", "pathway_count": 6, "publication_count": 43, "publication_id_list": "11112487;11237011;11527981;11563910;12663786;14624836;15075231;15218037;15473846;15509564;15613341;16371348;16775314;16973552;18005716;19527882;19640981;20583170;20654576;21238931;21289126;21757351;2204156;22762019;23266279;23305486;24518671;24715725;25961502;2799391;30379171;30429286;32157095;32387766;33936100;33968037;33981976;35051231;35580925;36010968;37938771;9506952;9525617", "class_list": "", "function": "Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies., [UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Study suggests a novel association between SNPs in FAM125B andintra-ocular pressure in the TwinsUK cohort., [RefSeq, PubMed]; The protein encoded by this gene is a component of the ESCRT-I complex, a heterotetramer, which mediates the sorting of ubiquitinated cargo protein from the plasma membrane to the endosomal vesicle. ESCRT-I complex plays an essential role in HIV budding and endosomal protein sorting. Depletion and overexpression of this and related protein (MVB12A) inhibit HIV-1 infectivity and induce unusual viral assembly defects, indicating a role for MVB12 subunits in regulating ESCRT-mediated virus budding. Alternatively spliced transcript variants encoding different isoforms have been found 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": 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": 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": "Q8N6S7", "ec_number_list": "", "go_molecular_function": "GO:0008289 lipid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005769 early endosome;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0036258 multivesicular body assembly;GO:0043328 protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway;GO:0015031 protein transport;GO:0042058 regulation of epidermal growth factor receptor signaling pathway;GO:0046755 viral budding", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q9H7P6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43813-1", "uniprot_id": "LANC1_HUMAN", "mass": 45283.0, "length": 399, "protein_name": "Glutathione S-transferase LANCL1", "gene_name": "LANCL1", "organism": "Human", "refseq_name": "glutathione S-transferase LANCL1", "refseq_ac": "NP_001130046", "gene_names_uniprotkb": "LANCL1; GPR69A", "gene_names_refseq": "GPR69A; LANCL1; p40", "protein_names_uniprotkb": "Glutathione S-transferase LANCL1; 2.5.1.18; 40 kDa erythrocyte membrane protein; LanC-like protein 1; p40", "protein_names_refseq": "40 kDa erythrocyte membrane protein; G protein-coupled receptor 69A; LanC (bacterial lantibiotic synthetase component C)-like 1; LanC (bacterial lantibiotic synthetase component); LanC lantibiotic synthetase component C-like 1; LanC like 1; glutathione S-transferase LANCL1; lanC-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10314)", "pathway_count": 1, "publication_count": 53, "publication_id_list": "10.1101/2023.09.13.557529;10944443;11237011;11474189;15811525;16979580;19528316;19531498;19608861;23301498;24714562;24715725;25880248;26992070;27846572;28904123;29351928;29437277;29493099;29557506;30315122;30410026;30429286;30484775;31844290;32157095;32350084;32357974;32387766;32938616;32983136;33049334;33298915;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34098144;34357683;34932366;35051231;35318648;36010968;36241641;36284347;36834900;37540188;38665916;40596516;9512664", "class_list": "", "function": "Functions as a glutathione transferase. Catalyzes conjugation of the glutathione (GSH) to artificial substrates 1-chloro-2,4-dinitrobenzene (CDNB) and p-nitrophenyl acetate. Mitigates neuronal oxidative stress during normal postnatal development and in response to oxidative stresses probably through GSH antioxidant defense mechanism (By similarity). May play a role in EPS8 signaling. Binds glutathione (PubMed:19528316)., [UniProtKB, PubMed, UniProtKB]; LANCL1 binds abscisic acid and stimulates glucose transport and mitochondrial respiration in muscle cells via the AMPK/PGC-1alpha/Sirt1 pathway., [RefSeq, PubMed]; LANCL1, a cell surface protein, promotes liver tumor initiation through FAM49B-Rac1 axis to suppress oxidative stress., [RefSeq, PubMed]; Stable knockout of lanthionine synthase C-like protein-1 (LanCL1) from HeLa cells indicates a role for LanCL1 in redox regulation of deubiquitinating enzymes., [RefSeq, PubMed]; The ABA/LANCL1/2 Hormone/Receptor System Controls Adipocyte Browning and Energy Expenditure. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a loosely associated peripheral membrane protein related to the LanC family of bacterial membrane-associated proteins involved in the biosynthesis of antimicrobial peptides. This protein may play a role as a peptide-modifying enzyme component in eukaryotic cells. Previously considered a member of the G-protein-coupled receptor superfamily, this protein is now in the LanC family. Multiple alternatively spliced variants, encoding the same protein, have been identified. [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": 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": 5, "reported_glycation": 0, "reported_snv": 13, "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": "", "ec_number_list": "2.5.1.18;1.11.1.-;5.3.99.3;5.2.1.2;5.3.99.2;5.3.3.-;1.20.4.2;1.8.5.1;4.4.1.20", "go_molecular_function": "GO:0004364 glutathione transferase activity;GO:0043295 glutathione binding;GO:0004930 G protein-coupled receptor activity;GO:0008270 zinc ion binding;GO:0017124 SH3 domain binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0005975 carbohydrate metabolic process;GO:0031179 peptide modification;GO:1990748 cellular detoxification", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "O43813-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43283-1", "uniprot_id": "M3K13_HUMAN", "mass": 108296.0, "length": 966, "protein_name": "Mitogen-activated protein kinase kinase kinase 13", "gene_name": "MAP3K13", "organism": "Human", "refseq_name": "mitogen-activated protein kinase kinase kinase 13 isoform 1", "refseq_ac": "NP_001229243", "gene_names_uniprotkb": "MAP3K13; LZK", "gene_names_refseq": "LZK; MAP3K13; MEKK13; MLK", "protein_names_uniprotkb": "Mitogen-activated protein kinase kinase kinase 13; 2.7.11.25; Leucine zipper-bearing kinase; MLK; Mixed lineage kinase", "protein_names_refseq": "leucine zipper-bearing kinase; mitogen-activated protein kinase kinase kinase 13 isoform 1; mixed lineage kinase", "tax_id": 9606, "disease": "", "pathway": " (hsa:9175)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "11163770;11237011;11726277;12186766;12492477;17344846;24715725;25576301;26918941;28641113;28657654;29242379;31186535;31844290;31848261;32488085;32928873;33392160;35051231;35311629;35580925;38253038;8274451;9353328", "class_list": "", "function": "Activates the JUN N-terminal pathway through activation of the MAP kinase kinase MAP2K7. Acts synergistically with PRDX3 to regulate the activation of NF-kappa-B in the cytosol. This activation is kinase-dependent and involves activating the IKK complex, the IKBKB-containing complex that phosphorylates inhibitors of NF-kappa-B., [UniProtKB, PubMed, PubMed, PubMed]; Chromosomal localization studies involving FISH mapping demonstrated that the human LZK gene is located at 3q27., [RefSeq, PubMed]; Clinical significance of mitogen-activated protein kinase kinase kinases in hepatitis B virus -related hepatocellular carcinoma and underlying mechanism exploration., [RefSeq, PubMed]; Data indicate that miR-206's effect on Myc was mediated through MAP3K13., [RefSeq, PubMed]; LZK cooperates with DLK to promote retinal ganglion cell death in response to axon injury., [RefSeq, PubMed]; The MAP3K13-TRIM25-FBXW7alpha axis affects c-Myc protein stability and tumor development., [RefSeq, PubMed]; The protein encoded by this gene is a member of serine/threonine protein kinase family. This kinase contains a dual leucine-zipper motif, and has been shown to form dimers/oligomers through its leucine-zipper motif. This kinase can phosphorylate and activate MAPK8/JNK, MAP2K7/MKK7, which suggests a role in the JNK signaling pathway. [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": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 58, "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": "B2R6U2;B4DLE3;B4DMV2;B4DZJ4;D3DNU1;Q05BY6;Q15450;Q2NKN3", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0019899 enzyme binding;GO:0019901 protein kinase binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "GO:1905492 positive regulation of branching morphogenesis of a nerve;GO:0007254 JNK cascade;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0045773 positive regulation of axon extension;GO:0051403 stress-activated MAPK cascade", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "O43283-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96MU8-1", "uniprot_id": "KREM1_HUMAN", "mass": 51744.0, "length": 473, "protein_name": "Kremen protein 1", "gene_name": "KREMEN1", "organism": "Human", "refseq_name": "kremen protein 1 isoform 3 precursor", "refseq_ac": "NP_001034659", "gene_names_uniprotkb": "KREMEN1; KREMEN; KRM1", "gene_names_refseq": "ECTD13; KREMEN1; KREMEN; KRM1", "protein_names_uniprotkb": "Kremen protein 1; Dickkopf receptor; Kringle domain-containing transmembrane protein 1; Kringle-containing protein marking the eye and the nose", "protein_names_refseq": "dickkopf receptor; kremen protein 1 isoform 3 precursor; kremen protein 1; kringle domain-containing transmembrane protein 1; kringle-coding gene marking the eye and the nose; kringle-containing protein marking the eye and the nose", "tax_id": 9606, "disease": "ectodermal dysplasia 13 (Disease Ontology:DOID:0111650)", "pathway": " (hsa:83999); (R-HSA-201681); (R-HSA-3772470); (R-HSA-5339717)", "pathway_count": 4, "publication_count": 86, "publication_id_list": "10.1101/2023.09.13.557529;10198061;10201374;10347172;11029007;11137016;11237011;11357136;11433302;11448771;11493532;11742004;12050670;12167704;12205098;12223464;12527209;12775774;12897152;14636582;14981260;15084453;15208637;15256437;15454084;15459103;15778503;15908424;16116452;16172602;16280981;16427602;16554443;16723543;16971168;17047023;17143291;17234765;17462603;17804805;18044981;18077588;18322270;18423204;18477386;18502762;18606139;19000841;19158955;19174556;19208630;19307728;19619488;19755491;20004982;20053636;20093360;21383061;21743455;21875946;21944579;21984209;22000855;22000856;22014570;22411803;22653731;22773843;22951645;22986341;23256519;23791946;27049303;27524201;32157095;32350084;32387766;34028942;34837059;34903854;35051231;35154160;35251023;9135132;9391096;9501980", "class_list": "", "function": "Functional characterization of related Kremen proteins in mouse., [RefSeq, PubMed]; Kremen may not be essential for Dkk1-mediated Wnt antagonism and Kremen may only play a role when cells express a high level of LRP5/6, [RefSeq, PubMed]; Novel SARS-CoV-2 receptors: ASGR1 and KREMEN1., [RefSeq, PubMed]; Novel homozygous KREMEN1 mutation causes ectodermal dysplasia., [RefSeq, PubMed]; Receptome profiling identifies KREMEN1 and ASGR1 as alternative functional receptors of SARS-CoV-2. Erratum:[Cell Res. 2022 Jun;32(6):600. doi: 10.1038/s41422-022-00654-6. PMID: 35365756], [RefSeq, PubMed]; Receptor for Dickkopf proteins. Cooperates with DKK1/2 to inhibit Wnt/beta-catenin signaling by promoting the endocytosis of Wnt receptors LRP5 and LRP6. In the absence of DKK1, potentiates Wnt-beta-catenin signaling by maintaining LRP5 or LRP6 at the cell membrane. Can trigger apoptosis in a Wnt-independent manner and this apoptotic activity is inhibited upon binding of the ligand DKK1. Plays a role in limb development; attenuates Wnt signaling in the developing limb to allow normal limb patterning and can also negatively regulate bone formation. Modulates cell fate decisions in the developing cochlea with an inhibitory role in hair cell fate specification., [UniProtKB, UniProtKB, UniProtKB]; This gene encodes a high-affinity dickkopf homolog 1 (DKK1) transmembrane receptor that functionally cooperates with DKK1 to block wingless (WNT)/beta-catenin signaling. The encoded protein is a component of a membrane complex that modulates canonical WNT signaling through lipoprotein receptor-related protein 6 (LRP6). It contains extracellular kringle, WSC, and CUB domains. Mutations in this gene result in ectodermal dysplasia. This protein has also been found to be a functional receptor for Coxsackievirus A10 and may be an alternative entry receptor for SARS-CoV-2. [provided by RefSeq, Nov 2021]., [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": 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": 5, "reported_interactions": 0, "missing_score": 9562, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B0QY46;B0QY47;B1AJR5;Q5TIB9;Q6P3X6;Q9BY70;Q9UGS5;Q9UGU1", "ec_number_list": "", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0043025 neuronal cell body", "go_biological_process": "GO:0007165 signal transduction;GO:0090090 negative regulation of canonical Wnt signaling pathway;GO:0006915 apoptotic process;GO:0016055 Wnt signaling pathway;GO:0007154 cell communication", "synthesized_glycan_count": 0, "hit_score": 9.2, "record_id": "Q96MU8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q93050-2", "uniprot_id": "VPP1_HUMAN", "mass": 96413.0, "length": 837, "protein_name": "V-type proton ATPase 116 kDa subunit a 1", "gene_name": "ATP6V0A1", "organism": "Human", "refseq_name": "V-type proton ATPase 116 kDa subunit a 1 isoform 2", "refseq_ac": "NP_001123492", "gene_names_uniprotkb": "ATP6V0A1; ATP6N1A; ATP6N1; VPP1", "gene_names_refseq": "ATP6N1A; ATP6N1; ATP6V0A1; DEE104; NEDEBA; Stv1; VPP1; Vph1; a1", "protein_names_uniprotkb": "V-type proton ATPase 116 kDa subunit a 1; Clathrin-coated vesicle/synaptic vesicle proton pump 116 kDa subunit; V-ATPase 116 kDa subunit a 1; Vacuolar adenosine triphosphatase subunit Ac116; Vacuolar proton pump subunit 1; Vacuolar proton translocating ATPase 116 kDa subunit a isoform 1", "protein_names_refseq": "ATPase, H+ transporting, lysosomal V0 subunit a1; ATPase, H+ transporting, lysosomal non-catalytic accessory protein 1 (110/116kD); H(+)-transporting two-sector ATPase, 116 kDa accessory protein A1; V-ATPase 116 kDa subunit a 1; V-ATPase 116 kDa subunit a1; V-ATPase subunit a1; V-type proton ATPase 116 kDa subunit a 1 isoform 2; V-type proton ATPase 116 kDa subunit a 1; V-type proton ATPase 116 kDa subunit a1; V-type proton ATPase 116 kDa subunit a; clathrin-coated vesicle/synaptic vesicle proton pump 116 kDa subunit; vacuolar adenosine triphosphatase subunit Ac116; vacuolar proton pump subunit 1; vacuolar proton translocating ATPase 116 kDa subunit A; vacuolar-type H(+)-ATPase 115 kDa subunit", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 104 (Disease Ontology:DOID:0070390); autosomal recessive osteopetrosis 1 (Disease Ontology:DOID:0110942); renal tubular acidosis (Disease Ontology:DOID:14219); Parkinson's disease (Disease Ontology:DOID:14330); neurodevelopmental disorder with epilepsy and brain atrophy (MONDO:MONDO:0859265)", "pathway": " (hsa:535); (R-HSA-1222556); (R-HSA-6798695); (R-HSA-77387); (R-HSA-917977); (R-HSA-983712)", "pathway_count": 6, "publication_count": 133, "publication_id_list": "10.1101/2023.09.13.557529;10029572;10409623;10802645;11237855;11779865;11800564;11970843;12531241;12643545;16227996;16271887;16564538;16574064;16609065;16793765;17051221;17081065;17662945;17697703;17729390;18406720;18794901;19089323;19321446;20134026;21124855;22053050;22087256;22424782;22706990;23186163;23481700;23650620;24366607;24397554;25418920;25502872;25576301;25645385;25802875;25880248;26154972;26205815;26375851;26992070;27600516;27862975;27893789;27920218;28024296;28063628;28218747;28228285;2825632;2848506;28832583;28834231;28904123;29242379;29314611;29317506;29393594;29437277;29508533;29557506;29596046;29632046;29632711;29786170;2986535;30315122;30337524;30410026;30484775;30573663;3061785;31154438;31530632;31611695;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33065002;33298915;33392160;33537174;33592498;33717175;33833240;33912179;33968037;34171305;34185709;34211107;34357683;34433824;34509645;34904569;34909687;34932366;35051231;35154160;35251023;35318648;35561310;35580925;36215666;36241641;36284347;37074911;37217939;6141558;6309857;7929063;7980580;8300632;8537108;8682206;8692836;8995282;9465039;9609117;9793760", "class_list": "", "function": "ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H(+)-ATPases is essential for brain development in humans and mice. Publication Status: Online-Only, [RefSeq, PubMed]; Subunit of the V0 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 transports protons across cellular membranes. V-ATPase is responsible for the acidification of various organelles, such as lysosomes, endosomes, the trans-Golgi network, and secretory granules, including synaptic vesicles (PubMed:33065002, PubMed:33833240, PubMed:34909687). In certain cell types, can be exported to the plasma membrane, where it is involved in the acidification of the extracellular environment (By similarity). The V-ATPase complex also acts as an activator for mTORC1 on lysosomal membrane by promoting the guanine nucleotide exchange factor (GEF) of the Ragulator complex, thereby enabling mTORC1 recruitment (PubMed:22053050). Required for assembly and activity of the vacuolar ATPase (By similarity). Through its action on compartment acidification, plays an essential role in neuronal development in terms of integrity and connectivity of neurons (PubMed:33833240)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, PubMed]; This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes one of three A subunit proteins and the encoded protein is associated with clathrin-coated vesicles. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; V-ATPase V0a1 promotes Weibel-Palade body biogenesis through the regulation of membrane fission. 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": 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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "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": "B7Z3B7;Q8N5G7;Q9NSX0", "ec_number_list": "", "go_molecular_function": "GO:0051117 ATPase binding;GO:0046961 proton-transporting ATPase activity, rotational mechanism", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0048471 perinuclear region of cytoplasm;GO:0070062 extracellular exosome;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0016241 regulation of macroautophagy;GO:0048388 endosomal lumen acidification;GO:0007042 lysosomal lumen acidification;GO:0097401 synaptic vesicle lumen acidification;GO:0007035 vacuolar acidification", "synthesized_glycan_count": 0, "hit_score": 14.0, "record_id": "Q93050-2", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BYT5-1", "uniprot_id": "KRA22_HUMAN", "mass": 12957.0, "length": 123, "protein_name": "Keratin-associated protein 2-2", "gene_name": "KRTAP2-2", "organism": "Human", "refseq_name": "putative keratin-associated protein ENSP00000381495", "refseq_ac": "NP_149021", "gene_names_uniprotkb": "KRTAP2-2; KAP2.2; KRTAP2.2", "gene_names_refseq": "KAP2.1; KAP2.2; KRTAP2-1; KRTAP2-2; KRTAP2.1A; KRTAP2.1B", "protein_names_uniprotkb": "Keratin-associated protein 2-2; High sulfur keratin-associated protein 2.2; Keratin-associated protein 2.2", "protein_names_refseq": "High sulfur keratin-associated protein 2.1; Keratin-associated protein 2-1; Keratin-associated protein 2.1; putative keratin-associated protein ENSP00000381495", "tax_id": 9606, "disease": "", "pathway": " (hsa:728279); (R-HSA-6805567)", "pathway_count": 2, "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": 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": "A8MTN3;A8MXM4", "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": "Q9BYT5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BRS8-1", "uniprot_id": "LARP6_HUMAN", "mass": 54737.0, "length": 491, "protein_name": "La-related protein 6", "gene_name": "LARP6", "organism": "Human", "refseq_name": "la-related protein 6 isoform 3", "refseq_ac": "NP_001273608", "gene_names_uniprotkb": "LARP6", "gene_names_refseq": "ACHN; LARP6", "protein_names_uniprotkb": "La-related protein 6; Acheron; Achn; La ribonucleoprotein domain family member 6", "protein_names_refseq": "La ribonucleoprotein domain family member 6; acheron; death-associated LA motif protein; la-related protein 6 isoform 3; la-related protein 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:55323)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "11237011;17081983;17383118;19413330;19651622;19664994;19889961;19917293;20603131;21387291;21746880;22190748;22544926;23186163;24715725;25692237;26154972;26932461;28112218;28228285;28782243;29391424;29557506;30315122;31844290;32938616;33141586;33633747;33968037;34896113;35051231;35176288;36691044", "class_list": "", "function": "A cytoplasmic isoform of La protein as well as LARPs 6, 4, and 1 function in mRNA metabolism and translation in distinct but similar ways, sometimes with the poly(A)-binding protein, and in some cases by direct binding to poly(A)-RNA. Review article, [RefSeq, PubMed]; Acheron may influence differentiation in part via its control of cell adhesion dynamics., [RefSeq, PubMed]; Achn enhances human breast tumor growth and vascularization and that this activity is dependent on nuclear localization., [RefSeq, PubMed]; Characterization of Sequence-Specific Binding of LARP6 to the 5' Stem-Loop of Type I Collagen mRNAs and Implications for Rational Design of Antifibrotic Drugs., [RefSeq, PubMed]; LARP6 Regulates Keloid Fibroblast Proliferation, Invasion, and Ability to Synthesize Collagen., [RefSeq, PubMed]; LARP6 has a distinctive bipartite RNA binding domain not found in other members of the La superfamily. LARP6 interacts with the two single-stranded regions of the 5' stem-loop., [RefSeq, PubMed]; LARP6 suppresses colorectal cancer progression through ZNF267/SGMS2-mediated imbalance of sphingomyelin synthesis. Publication Status: Online-Only, [RefSeq, PubMed]; Regulates the coordinated translation of type I collagen alpha-1 and alpha-2 mRNAs, CO1A1 and CO1A2. Stabilizes mRNAs through high-affinity binding of a stem-loop structure in their 5' UTR. This regulation requires VIM and MYH10 filaments, and the helicase DHX9., [UniProtKB, PubMed, PubMed, PubMed]; Study shows that mTORC1 phosphorylates La ribonucleoprotein domain family, member 6 to stimulate type I collagen expression. Publication Status: Online-Only, [RefSeq, PubMed]; These data define Achn as a newly discovered regulatory molecule that presumably mediates a variety of developmental and homeostatic processes in animals., [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": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 8621, "biomarker_type": "", "glycan_count": 5, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5XKE4;Q8N3N2;Q9NUR0", "ec_number_list": "", "go_molecular_function": "GO:1990825 sequence-specific mRNA binding;GO:0003729 mRNA binding;GO:0017022 myosin binding;GO:0048027 mRNA 5'-UTR binding;GO:0035613 RNA stem-loop binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0006396 RNA processing;GO:0006417 regulation of translation;GO:0032967 positive regulation of collagen biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q9BRS8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P60413-1", "uniprot_id": "KR10C_HUMAN", "mass": 25107.0, "length": 245, "protein_name": "Keratin-associated protein 10-12", "gene_name": "KRTAP10-12", "organism": "Human", "refseq_name": "keratin-associated protein 10-12", "refseq_ac": "NP_941972", "gene_names_uniprotkb": "KRTAP10-12; KAP10.12; KAP18-12; KRTAP10.12; KRTAP18-12; KRTAP18.12", "gene_names_refseq": "KAP10.12; KRTAP10-12; KRTAP18-12; KRTAP18.12", "protein_names_uniprotkb": "Keratin-associated protein 10-12; High sulfur keratin-associated protein 10.12; Keratin-associated protein 10.12; Keratin-associated protein 18-12; Keratin-associated protein 18.12", "protein_names_refseq": "high sulfur keratin-associated protein 10.12; keratin-associated protein 10-12; keratin-associated protein 18-12", "tax_id": 9606, "disease": "", "pathway": " (hsa:386685); (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": 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": "B2RPA3", "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": "P60413-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A8MVA2-1", "uniprot_id": "KRA96_HUMAN", "mass": 16800.0, "length": 160, "protein_name": "Keratin-associated protein 9-6", "gene_name": "KRTAP9-6", "organism": "Human", "refseq_name": "keratin-associated protein 9-6", "refseq_ac": "NP_001264260", "gene_names_uniprotkb": "KRTAP9-6; KAP9.6; KRTAP9.6; KRTAP9L2", "gene_names_refseq": "KAP9.6; KRTAP9-6; KRTAP9.6; KRTAP9L2", "protein_names_uniprotkb": "Keratin-associated protein 9-6; Keratin-associated protein 9-like 2", "protein_names_refseq": "keratin associated protein 9-like 2; keratin-associated protein 9-6; putative keratin-associated protein 9-2-like 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:100507608); (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 (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": "", "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": 1.1, "record_id": "A8MVA2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P08183-1", "uniprot_id": "MDR1_HUMAN", "mass": 141479.0, "length": 1280, "protein_name": "ATP-dependent translocase ABCB1", "gene_name": "ABCB1", "organism": "Human", "refseq_name": "ATP-dependent translocase ABCB1 isoform 2", "refseq_ac": "NP_000918", "gene_names_uniprotkb": "ABCB1; MDR1; PGY1", "gene_names_refseq": "ABC20; ABCB1; CD243; CLCS; ENPAT; GP170; MDR1; P-GP; PGY1; p-170", "protein_names_uniprotkb": "ATP-dependent translocase ABCB1; 7.6.2.1; 7.6.2.2; ATP-binding cassette sub-family B member 1; Multidrug resistance protein 1; P-glycoprotein 1; Phospholipid transporter ABCB1", "protein_names_refseq": "ATP-binding cassette, sub-family B (MDR/TAP), member 1; ATP-dependent translocase ABCB1 isoform 2; ATP-dependent translocase ABCB1; P-glycoprotein 1; colchicin sensitivity; doxorubicin resistance; multidrug resistance protein 1; phospholipid transporter ABCB1", "tax_id": 9606, "disease": "obstructive sleep apnea (Disease Ontology:DOID:0050848); colorectal adenocarcinoma (Disease Ontology:DOID:0050861); familial temporal lobe epilepsy 3 (Disease Ontology:DOID:0060750); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); nasal type extranodal NK/T-cell lymphoma (Disease Ontology:DOID:0080797); inflammatory bowel disease 13 (Disease Ontology:DOID:0110893); osteonecrosis (Disease Ontology:DOID:10159); antisocial personality disorder (Disease Ontology:DOID:10939); familial hyperlipidemia (Disease Ontology:DOID:1168); malaria (Disease Ontology:DOID:12365); Behcet's disease (Disease Ontology:DOID:13241); hepatic encephalopathy (Disease Ontology:DOID:13413); cholestasis (Disease Ontology:DOID:13580); cystic fibrosis (Disease Ontology:DOID:1485); status epilepticus (Disease Ontology:DOID:1824); epilepsy (Disease Ontology:DOID:1826); cannabis dependence (Disease Ontology:DOID:1849); nephroblastoma (Disease Ontology:DOID:2154); brain ischemia (Disease Ontology:DOID:2316); ovarian cancer (Disease Ontology:DOID:2394); opiate dependence (Disease Ontology:DOID:2559); asthma (Disease Ontology:DOID:2841); cryoglobulinemia (Disease Ontology:DOID:2917); pulmonary tuberculosis (Disease Ontology:DOID:2957); familial Mediterranean fever (Disease Ontology:DOID:2987); invasive ductal carcinoma (Disease Ontology:DOID:3008); high grade glioma (Disease Ontology:DOID:3070); temporal lobe epilepsy (Disease Ontology:DOID:3328); toxic encephalopathy (Disease Ontology:DOID:3602); lung non-small cell carcinoma (Disease Ontology:DOID:3908); renal cell carcinoma (Disease Ontology:DOID:4450); allergic rhinitis (Disease Ontology:DOID:4481); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); acquired immunodeficiency syndrome (Disease Ontology:DOID:635); hepatocellular carcinoma (Disease Ontology:DOID:684); end stage renal disease (Disease Ontology:DOID:783); chronic myeloid leukemia (Disease Ontology:DOID:8552); ulcerative colitis (Disease Ontology:DOID:8577); Crohn's disease (Disease Ontology:DOID:8778); type 2 diabetes mellitus (Disease Ontology:DOID:9352); encephalitis (Disease Ontology:DOID:9588); acute lymphoblastic leukemia (Disease Ontology:DOID:9952); drug dependence (Disease Ontology:DOID:9974); heroin dependence (Disease Ontology:DOID:9976); encephalopathy, acute transient (MONDO:MONDO:0975801)", "pathway": " (hsa:5243); (R-HSA-2161517); (R-HSA-382556); (R-HSA-9754706); (R-HSA-9757110)", "pathway_count": 5, "publication_count": 172, "publication_id_list": "10.1101/2023.09.13.557529;10484077;10535749;10601278;10665657;10673364;10716719;10729196;10748049;10790226;11038166;11237011;11240981;11258197;11504826;11562789;11812794;11829140;11902585;11950779;12379217;12379510;12403779;12466373;12604685;12673034;1352877;1356264;1359686;1377674;14610718;14661924;15175422;15472518;15488952;15497697;15618700;15618713;15801541;15863492;15899824;15904907;16816140;16901789;16959974;17200165;17437964;17523162;17686774;17709369;17855752;17894550;17954267;17977821;18282684;18434309;18513745;18669648;18720283;18767875;19002207;19141712;19447222;19570978;1967175;1968359;1972623;19794410;19862647;1998343;20068231;20103563;20190787;20583968;20621639;21278621;21490593;21852972;22178883;22344233;23063411;23531488;23562342;24019521;24333728;24685677;2475911;24799396;25133187;25505266;25576301;25645385;2568832;2570070;25800201;26208431;2639662;26412035;27411675;27846572;27862975;28132103;28408210;2876781;28832583;2897240;2898143;29242379;29351928;29557506;29632711;30137266;30429286;30484775;31701669;31844290;32157095;32350084;32357974;32387766;32627353;32813957;32938616;32981041;32983136;33214551;33537174;33592498;33981976;34019948;34045219;3457471;3472246;34725712;35051231;35154160;35507548;35580925;3593903;35970996;36010968;36241641;3709632;38920082;38962329;39126083;6492791;7073761;7195405;7310640;7400951;7523390;7529176;7553863;7553864;7578013;7588203;7865904;7909431;8537634;8862014;8898203;9038218;9167279;9414488;9473242;9543163;9652413;9816258;9831708;9861027;9950764", "class_list": "", "function": "Characterization of Chemoresistance in Pancreatic Cancer: A Look at MDR-1 Polymorphisms and Expression in Cancer Cells and Patients. Publication Status: Online-Only, [RefSeq, PubMed]; Membrane P-glycoprotein expression in lymphocytes from adult patients with refractory glomerulonephritis., [RefSeq, PubMed]; The Frequencies distribution of CYP3A5 rs776746 and ABCB1 rs1045642 polymorphisms in the west Algerian population and relationships with pharmacogenetics., [RefSeq, PubMed]; The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is an ATP-dependent drug efflux pump for xenobiotic compounds with broad substrate specificity. It is responsible for decreased drug accumulation in multidrug-resistant cells and often mediates the development of resistance to anticancer drugs. This protein also functions as a transporter in the blood-brain barrier. Mutations in this gene are associated with colchicine resistance and Inflammatory bowel disease 13. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Feb 2017]., [RefSeq]; Translocates drugs and phospholipids across the membrane (PubMed:2897240, PubMed:35970996, PubMed:8898203, PubMed:9038218, PubMed:35507548). Catalyzes the flop of phospholipids from the cytoplasmic to the exoplasmic leaflet of the apical membrane. Participates mainly to the flop of phosphatidylcholine, phosphatidylethanolamine, beta-D-glucosylceramides and sphingomyelins (PubMed:8898203). Energy-dependent efflux pump responsible for decreased drug accumulation in multidrug-resistant cells (PubMed:2897240, PubMed:35970996, PubMed:9038218)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Treatment with the anti-cancer drug paclitaxel have an increased copy number in the 7q21.12 region including the MDR1/ABCB1 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": 3, "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": 13, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 66, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 45, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A8K294;B5AK60;Q12755;Q14812", "ec_number_list": "7.6.2.1;7.6.2.-;7.6.2.2;7.6.2.3", "go_molecular_function": "GO:0042910 xenobiotic transmembrane transporter activity;GO:0005524 ATP binding;GO:0022857 transmembrane transporter activity;GO:0042626 ATPase-coupled transmembrane transporter activity;GO:0008559 ABC-type xenobiotic transporter activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0055085 transmembrane transport;GO:0000086 G2/M transition of mitotic cell cycle;GO:0006805 xenobiotic metabolic process;GO:0045332 phospholipid translocation;GO:0009410 response to xenobiotic stimulus", "synthesized_glycan_count": 0, "hit_score": 18.4, "record_id": "P08183-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96QE4-1", "uniprot_id": "LR37B_HUMAN", "mass": 105567.0, "length": 947, "protein_name": "Leucine-rich repeat-containing protein 37B", "gene_name": "LRRC37B", "organism": "Human", "refseq_name": "leucine-rich repeat-containing protein 37B isoform 1 precursor", "refseq_ac": "NP_443120", "gene_names_uniprotkb": "LRRC37B", "gene_names_refseq": "LRRC37B; LRRC37", "protein_names_uniprotkb": "Leucine-rich repeat-containing protein 37B; C66 SLIT-like testicular protein", "protein_names_refseq": "C66 SLIT-like testicular protein; leucine-rich repeat-containing protein 37B isoform 1 precursor; leucine-rich repeat-containing protein 37B", "tax_id": 9606, "disease": "", "pathway": " (hsa:114659)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "10843809;11237011;19291764;23481700;24714562;25505266;28832583;38134874", "class_list": "", "function": "LRRC37B is a human modifier of voltage-gated sodium channels and axon excitability in cortical neurons., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [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": 24, "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": "Q17RC9;Q5YKG6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q96QE4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P48645-1", "uniprot_id": "NMU_HUMAN", "mass": 19741.0, "length": 174, "protein_name": "Neuromedin-U", "gene_name": "NMU", "organism": "Human", "refseq_name": "neuromedin-U isoform 3 precursor", "refseq_ac": "NP_001278975", "gene_names_uniprotkb": "NMU; NMU1", "gene_names_refseq": "NMU", "protein_names_uniprotkb": "Neuromedin-U; Prepro-NMU", "protein_names_refseq": "neuromedin U precursor-related peptide/neuromedin U preproprotein; neuromedin-U isoform 3 precursor; prepro-NMU", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:10874); (R-HSA-375276); (R-HSA-416476); (R-HSA-418594)", "pathway_count": 4, "publication_count": 148, "publication_id_list": "10.1038/emboj.2013.79;10079109;10100623;10191087;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10567430;10604470;10727532;10854085;10861009;10899166;11007482;11015615;11237011;11322507;11385580;11457843;11562423;11683476;11742120;11753430;11773063;12120503;12427552;12540846;12719537;1280419;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;15139756;15331768;15539556;15585845;1567413;15947423;15951850;16182515;16268778;16339447;1655761;16634148;16754659;16923326;1710450;1710578;1719979;1722333;18127230;18434541;1847994;18515384;18577758;18936096;1905813;23446738;23584533;23690594;24906252;2534964;2649896;2748346;27496565;27862975;2834384;2841328;28874765;3086311;31611695;31844290;3202875;32350084;33592498;3366244;33857254;33968037;34171305;35051231;35251023;3525564;35440625;36241641;36575163;37594135;38071108;38071753;38378005;3856870;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7619205;7624359;7797512;7905839;7937899;8015379;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8406495;8440682;8463333;8503909;8615752;8664309;8666380;8702752;873923;8823230;9171878;9305846;9521323;9530155;9593744;9607765;9685625;9722565;9770463;9792798;9832121;9851594", "class_list": "", "function": "Does not function as a ligand for either NMUR1 or NMUR2. Indirectly induces prolactin release although its potency is much lower than that of neuromedin precursor-related peptide 36., [UniProtKB, UniProtKB]; Does not function as a ligand for either NMUR1 or NMUR2. Indirectly induces prolactin release from lactotroph cells in the pituitary gland, probably via the hypothalamic dopaminergic system., [UniProtKB, UniProtKB]; Expression of NMU and NMUR1 in tryptase-positive mast cells and PBLs in allergic rhinitis patients' nasal mucosa., [RefSeq, PubMed]; Multifunctional neuropeptide that acts via two G protein-coupled receptors, NMUR1 and NMUR2 (PubMed:15331768, PubMed:35440625). Functionally, is involved in pleiotropic roles, including regulation of feeding, energy balance, blood pressure and smooth muscle contraction (By similarity). Additionally modulates hormone release and inflammatory responses in a tissue- and receptor-dependent manner (PubMed:15585845, PubMed:33857254). Mechanistically, binding to NMUR1 or NMUR2 results in coupling of receptors to Galpha proteins, namely GNAQ/Gaq or GNA11/Ga11 and GNAI1/Gai subunits (PubMed:15331768). GNAQ/Gaq or GNA11/Ga11 coupling leads to the activation of a phospholipase C (PLC), which hydrolyzes PIP2 (phosphatidylinositol 4,5-bisphosphate) into DAG (diacylglycerol) and IP3 (inositol trisphosphate), and subsequent intracellular calcium mobilization via IP3 receptors on the endoplasmic reticulum (PubMed:15331768). GNAI1/Gai coupling inhibits forskolin-stimulated cAMP accumulation (PubMed:15331768). In pancreatic beta cells, regulates insulin secretion through NMUR1 coupled to GNAI2 and GNAO1, resulting in reduced intracellular Ca2+ influx and cAMP levels (PubMed:33857254). Through NMUR1 in Th2-type T cells, enhances type 2 cytokine secretion and modulates inflammatory responses via activation of PLC-calcineurin-MEK and PI3K signaling pathways (PubMed:15585845)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Neuromedin U contributes to radiation resistance in colorectal cancer via YAP/TAZ signaling activation., [RefSeq, PubMed]; Neuromedin U regulates the anti-tumor activity of CD8[+] T cells and glycolysis of tumor cells in the tumor microenvironment of pancreatic ductal adenocarcinoma in an NMUR1-dependent manner., [RefSeq, PubMed]; This gene encodes a member of the neuromedin family of neuropeptides. The encoded protein is a precursor that is proteolytically processed to generate a biologically active neuropeptide that plays a role in pain, stress, immune-mediated inflammatory diseases and feeding regulation. Increased expression of this gene was observed in renal, pancreatic and lung cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. Some of these isoforms may undergo similar processing to generate the mature peptide. [provided by RefSeq, Jul 2015]., [RefSeq]; To be or not to be direct: The role of neuromedin U in neuro-eosinophil crosstalk., [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": 9, "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": "A0A250SH36", "ec_number_list": "", "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0042922 neuromedin U receptor binding;GO:0031839 type 1 neuromedin U receptor binding;GO:0031840 type 2 neuromedin U receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0043195 terminal bouton", "go_biological_process": "GO:1903999 negative regulation of eating behavior;GO:0045187 regulation of circadian sleep/wake cycle, sleep;GO:0060455 negative regulation of gastric acid secretion;GO:0001659 temperature homeostasis;GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 15.2, "record_id": "P48645-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N9T8-1", "uniprot_id": "KRI1_HUMAN", "mass": 82598.0, "length": 703, "protein_name": "Protein KRI1 homolog", "gene_name": "KRI1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "KRI1", "gene_names_refseq": "", "protein_names_uniprotkb": "Protein KRI1 homolog", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:65095)", "pathway_count": 1, "publication_count": 54, "publication_id_list": "11237011;17081983;17525332;18669648;18691976;19690332;20068231;21406692;21972290;23186163;23481700;24275569;24714562;25505266;25645385;26154972;26375851;26992070;28218747;28832583;28834231;28904123;29242379;29331515;29351928;29393594;29437277;29493099;29508533;29557506;29632711;29786170;30410026;30429286;31844290;32157095;32502341;32897882;32938616;32983136;33592498;33633747;33691108;33717175;33912179;33968037;34019948;35051231;35580925;36010968;37938771;40307207;40596516;40914422", "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": 15, "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": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q2M1R5;Q2M1R7;Q7L5J7;Q96G92;Q9BU50;Q9H6I1;Q9H978", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005730 nucleolus;GO:0030686 90S preribosome", "go_biological_process": "GO:0000447 endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q8N9T8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y620-1", "uniprot_id": "RA54B_HUMAN", "mass": 102967.0, "length": 910, "protein_name": "DNA repair and recombination protein RAD54B", "gene_name": "RAD54B", "organism": "Human", "refseq_name": "DNA repair and recombination protein RAD54B isoform 2", "refseq_ac": "NP_001192191", "gene_names_uniprotkb": "RAD54B", "gene_names_refseq": "RAD54B; RDH54", "protein_names_uniprotkb": "DNA repair and recombination protein RAD54B; 3.6.4.-; RAD54 homolog B", "protein_names_refseq": "DNA repair and recombination protein RAD54B isoform 2; DNA repair and recombination protein RAD54B", "tax_id": 9606, "disease": "non-Hodgkin lymphoma (Disease Ontology:DOID:0060060); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:25788)", "pathway_count": 1, "publication_count": 74, "publication_id_list": "10362364;10851248;11237011;11782437;11884632;16428451;16945962;22424782;22544926;23186163;23481700;24715725;25384516;25576301;25892735;25930971;26154972;26992070;27600516;27846572;27920218;28063628;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29769354;29786170;30315122;30444036;30484775;30524438;30568303;30779550;31844290;31937595;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33635591;33717175;33912179;33968037;33981976;34087483;34171305;34185709;34405274;34509645;34932366;35051231;35952757;36010968;36196684;36215666;36241641;38378037", "class_list": "", "function": "Integrated study of miR-215 promoting breast cancer cell apoptosis by targeting RAD54B., [RefSeq, PubMed]; Multifunctional ATPase that could play with RAD54, a redundant role in homologous recombination (HR), a major pathway for repairing DNA double-strand breaks (DSBs), single-stranded DNA (ssDNA) gaps, and stalled or collapsed replication forks (PubMed:11884632, PubMed:16428451). Could act as a molecular motor during the homology search and guide RAD51 ssDNA along a donor dsDNA thereby changing the homology search from the diffusion-based mechanism to a motor-guided mechanism (PubMed:11782437, PubMed:11884632, PubMed:16428451). Once DNA strand exchange occured, could dissociate RAD51 from nucleoprotein filaments formed on dsDNA (By similarity). May also function as a molecular adapter, promoting MDM2-MDM4 heterodimerization to facilitate the ubiquitin-dependent degradation of p53, thereby modulating the cellular decision between cell cycle arrest and progression in response to DNA damage (PubMed:25384516)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; RAD54B mutations enhance the sensitivity of ovarian cancer cells to poly(ADP-ribose) polymerase (PARP) inhibitors., [RefSeq, PubMed]; RAD54B promotes gastric cancer cell migration and angiogenesis via the Wnt/beta-catenin pathway. Publication Status: Online-Only, [RefSeq, PubMed]; RNA-sequencing analysis reveals the potential molecular mechanism of RAD54B in the proliferation of inflamed human dental pulp cells., [RefSeq, PubMed]; Rad54B enhanced the DNA strand-exchange activity of Dmc1 by stabilizing the Dmc1-single-stranded DNA complex., [RefSeq, PubMed]; Rad54B is a DNA-dependent ATPase and has biochemical properties different from its structural homolog in yeast, Tid1/Rdh54, [RefSeq, PubMed]; The protein encoded by this gene belongs to the DEAD-like helicase superfamily. It shares similarity with Saccharomyces cerevisiae RAD54 and RDH54, both of which are involved in homologous recombination and repair of DNA. This protein binds to double-stranded DNA, and displays ATPase activity in the presence of DNA. This gene is highly expressed in testis and spleen, which suggests active roles in meiotic and mitotic recombination. Homozygous mutations of this gene were observed in primary lymphoma and colon cancer. [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": 1, "reported_glycation": 0, "reported_snv": 6, "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": "F6WBS8", "ec_number_list": "5.6.2.4;3.6.1.-;3.6.4.-;3.6.4.13;3.6.4.6;3.6.1.5;2.7.7.7;2.7.7.49;3.6.4.10;3.1.3.1;3.9.1.1;4.2.99.18;5.6.1.6;5.6.2.3;3.6.4.12;3.4.21.53;5.6.2.5;3.1.-.-;3.6.5.-;7.6.2.1;2.3.2.27;7.2.2.-;5.6.2.-;2.3.2.-;2.7.11.1;3.6.1.15;3.1.4.-;3.6.-.-;3.4.24.-;3.1.13.1;5.6.2.6;3.4.-.-;2.7.4.3", "go_molecular_function": "GO:0003677 DNA binding;GO:0005524 ATP binding;GO:0030674 protein-macromolecule adaptor activity;GO:0016887 ATP hydrolysis activity;GO:0008094 ATP-dependent activity, acting on DNA", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0035861 site of double-strand break", "go_biological_process": "GO:0000724 double-strand break repair via homologous recombination;GO:0007131 reciprocal meiotic recombination;GO:1901797 negative regulation of signal transduction by p53 class mediator;GO:0035825 homologous recombination", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q9Y620-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13449-1", "uniprot_id": "LSAMP_HUMAN", "mass": 37393.0, "length": 338, "protein_name": "Limbic system-associated membrane protein", "gene_name": "LSAMP", "organism": "Human", "refseq_name": "limbic system-associated membrane protein isoform 2 precursor", "refseq_ac": "NP_001305844", "gene_names_uniprotkb": "LSAMP; IGLON3; LAMP", "gene_names_refseq": "IGLON3; LAMP; LSAMP", "protein_names_uniprotkb": "Limbic system-associated membrane protein; IgLON family member 3; LSAMP", "protein_names_refseq": "IgLON family member 3; limbic system-associated membrane protein isoform 2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:4045); (R-HSA-163125)", "pathway_count": 2, "publication_count": 16, "publication_id_list": "10.1101/2023.09.13.557529;11072085;11237011;19349973;23090970;24190977;2443973;27693347;28657654;29557506;32157095;32383616;3422494;36601748;38665916;8666243", "class_list": "", "function": "Identification of recurrent 3q13.31 chromosomal rearrangement indicates LSAMP as a tumor suppressor gene in neuroblastoma., [RefSeq, PubMed]; Limbic System Associated Membrane Protein Mutation in an Iranian Family Diagnosed with Meniere's Disease. Publication Status: Online-Only, [RefSeq, PubMed]; Mediates selective neuronal growth and axon targeting. Contributes to the guidance of developing axons and remodeling of mature circuits in the limbic system. Essential for normal growth of the hippocampal mossy fiber projection (By similarity)., [UniProtKB]; This gene encodes a member of the immunoglobulin LAMP, OBCAM and neurotrimin (IgLON) family of proteins. The encoded preproprotein is proteolytically processed to generate a neuronal surface glycoprotein. This protein may act as a selective homophilic adhesion molecule during axon guidance and neuronal growth in the developing limbic system. The encoded protein may also function as a tumor suppressor and may play a role in neuropsychiatric disorders. 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]; We detected African-specific SNPs at ZNF649 and LSAMP, with associations of genome-wide significance for ulcerative colitis., [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": 5, "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": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "Q8IV49", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0098552 side of membrane", "go_biological_process": "GO:0007399 nervous system development;GO:0051963 regulation of synapse assembly;GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q13449-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75449-1", "uniprot_id": "KTNA1_HUMAN", "mass": 55965.0, "length": 491, "protein_name": "Katanin p60 ATPase-containing subunit A1", "gene_name": "KATNA1", "organism": "Human", "refseq_name": "katanin p60 ATPase-containing subunit A1 isoform 2", "refseq_ac": "NP_001191005", "gene_names_uniprotkb": "KATNA1", "gene_names_refseq": "KATNA1", "protein_names_uniprotkb": "Katanin p60 ATPase-containing subunit A1; 5.6.1.1; Katanin p60 subunit A1; p60 katanin", "protein_names_refseq": "katanin p60 (ATPase containing) subunit A 1; katanin p60 ATPase-containing subunit A1 isoform 2; katanin p60 subunit A1; p60 katanin", "tax_id": 9606, "disease": "", "pathway": " (hsa:11104)", "pathway_count": 1, "publication_count": 71, "publication_id_list": "10751153;11237011;11870226;18452278;18669648;19007248;19261606;19287380;19413330;19651622;19691289;21406692;22898188;23186163;24190977;24486153;24714562;25880248;25892735;26728094;26929214;26992070;27600516;27846572;27920218;28218747;28228285;28386021;28832583;28834231;28904123;29242379;29437277;29557506;29632046;29769354;30315122;30410026;30484775;30524438;30573663;30779550;31530632;31844290;32157095;32357974;32387766;32502341;32631334;32897882;32938616;32983136;33274499;33298915;33592498;33782614;33912179;33968037;33981976;34019948;34087483;34171305;34509645;34561969;35051231;35868557;36010968;36215666;36240223;40596516;9658175", "class_list": "", "function": "A chemical genetics approach to examine the functions of AAA proteins., [RefSeq, PubMed]; Catalytic subunit of a complex which severs microtubules in an ATP-dependent manner. Microtubule severing may promote rapid reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation. Microtubule release from the mitotic spindle poles may allow depolymerization of the microtubule end proximal to the spindle pole, leading to poleward microtubule flux and poleward motion of chromosome. Microtubule release within the cell body of neurons may be required for their transport into neuronal processes by microtubule-dependent motor proteins. This transport is required for axonal growth., [UniProtKB, HAMAP, PubMed, PubMed, PubMed]; Katanin P60 and P80 in papillary thyroid carcinoma patients: Indicators for exacerbated tumor features and worse disease-free survival., [RefSeq, PubMed]; Katanin P60: a potential biomarker for lymph node metastasis and prognosis for non-small cell lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Microtubules, polymers of alpha and beta tubulin subunits, form the mitotic spindle of a dividing cell and help to organize membranous organelles during interphase. Katanin is a heterodimer that consists of a 60 kDa ATPase (p60 subunit A 1) and an 80 kDa accessory protein (p80 subunit B 1). The p60 subunit acts to sever and disassemble microtubules, while the p80 subunit targets the enzyme to the centrosome. This gene encodes the p80 subunit. This protein is a member of the AAA family of ATPases. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2011]., [RefSeq]; SUMOylation of microtubule-cleaving enzyme KATNA1 promotes microtubule severing and neurite outgrowth., [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": 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": 9, "reported_mutagensis": 3, "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": "E1P5A3;Q5TFA8;Q5TFA9;Q86VN2;Q9NU52", "ec_number_list": "", "go_molecular_function": "GO:0008568 microtubule severing ATPase activity;GO:0005524 ATP binding;GO:0008017 microtubule binding;GO:0046982 protein heterodimerization activity;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0008352 katanin complex;GO:0000922 spindle pole;GO:0005737 cytoplasm;GO:0005819 spindle;GO:0005874 microtubule", "go_biological_process": "GO:0051013 microtubule severing;GO:0051301 cell division;GO:0031122 cytoplasmic microtubule organization;GO:0000226 microtubule cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "O75449-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H7X3-1", "uniprot_id": "ZN696_HUMAN", "mass": 40575.0, "length": 374, "protein_name": "Zinc finger protein 696", "gene_name": "ZNF696", "organism": "Human", "refseq_name": "zinc finger protein 696", "refseq_ac": "NP_112157", "gene_names_uniprotkb": "ZNF696", "gene_names_refseq": "ZNF696", "protein_names_uniprotkb": "Zinc finger protein 696", "protein_names_refseq": "zinc finger protein 696", "tax_id": 9606, "disease": "", "pathway": " (hsa:79943); (R-HSA-212436)", "pathway_count": 2, "publication_count": 22, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;26992070;29557506;31217245;32157095;33717175;33912179;33968037;36284347;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [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": 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": "A0AVE2", "ec_number_list": "", "go_molecular_function": "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:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q9H7X3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UBX7-2", "uniprot_id": "KLK11_HUMAN", "mass": 31059.0, "length": 282, "protein_name": "Kallikrein-11", "gene_name": "KLK11", "organism": "Human", "refseq_name": "kallikrein-11 isoform 1 precursor", "refseq_ac": "NP_001129504", "gene_names_uniprotkb": "KLK11; PRO1279; PRSS20; TLSP", "gene_names_refseq": "IEKD; KLK11; PRSS20; TLSP", "protein_names_uniprotkb": "Kallikrein-11; 3.4.21.-; Hippostasin; Serine protease 20; Trypsin-like protease; hK11", "protein_names_refseq": "hK11; hippostasin; kallikrein-11 isoform 1 precursor; kallikrein-11; serine protease 20; trypsin-like protease", "tax_id": 9606, "disease": "ichthyosis with erythrokeratoderma (MONDO:MONDO:0957783)", "pathway": " (hsa:11012)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "10662548;10872828;11054574;11550212;12539228;12975309;16467084;16911518;23090970;24190977;25576301;26791533;34059001;34067437;34697154;35051231;36689511;37074911;37212630;37971062;9765601", "class_list": "", "function": "KLK11 promotes the activation of mTOR and protein synthesis to facilitate cardiac hypertrophy. Publication Status: Online-Only, [RefSeq, PubMed]; Kallikrein 11 Down-regulation in Breast Carcinoma: Correlation With Prognostic Parameters., [RefSeq, PubMed]; Kallikrein-11, in Association with Coiled-Coil Domain Containing 25, as a Potential Prognostic Marker for Cholangiocarcinoma with Lymph Node Metastasis. Publication Status: Online-Only, [RefSeq, PubMed]; Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Alternate splicing and the use of alternate promoters results in multiple transcript variants encoding distinct isoforms which are differentially expressed. [provided by RefSeq, Dec 2016]., [RefSeq]; May be useful marker for distinguishing prostate cancer and benign prostatic hypertrophy, [RefSeq, PubMed]; MiR-1304 targets KLK11 to regulate gastric cancer cell proliferation through the mTOR signaling pathway., [RefSeq, PubMed]; Possible multifunctional protease. Efficiently cleaves 'bz-Phe-Arg-4-methylcoumaryl-7-amide', a kallikrein substrate, and weakly cleaves other substrates for kallikrein and trypsin. Cleaves synthetic peptides after arginine but not lysine residues., [UniProtKB, PubMed, PubMed]; The gene promoter regions of kallikrein and the corresponding transcriptional initiation sites were studied., [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": 18, "reported_interactions": 0, "missing_score": 9409, "biomarker_type": "risk", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "O75837;Q0WXX5;Q8IXD7;Q9NS65", "ec_number_list": "", "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005794 Golgi apparatus;GO:0030141 secretory granule;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006508 proteolysis;GO:0051604 protein maturation", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q9UBX7-2", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y6N6-1", "uniprot_id": "LAMC3_HUMAN", "mass": 171227.0, "length": 1575, "protein_name": "Laminin subunit gamma-3", "gene_name": "LAMC3", "organism": "Human", "refseq_name": "laminin subunit gamma-3 precursor", "refseq_ac": "NP_006050", "gene_names_uniprotkb": "LAMC3", "gene_names_refseq": "LAMC3; OCCM", "protein_names_uniprotkb": "Laminin subunit gamma-3; Laminin-12 subunit gamma; Laminin-14 subunit gamma; Laminin-15 subunit gamma", "protein_names_refseq": "laminin subunit gamma-3 precursor; laminin, gamma 3; laminin-12 subunit gamma; laminin-14 subunit gamma; laminin-15 subunit gamma", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); occipital pachygyria and polymicrogyria (MONDO:MONDO:0013583)", "pathway": " (hsa:10319); (R-HSA-3000157); (R-HSA-3000171); (R-HSA-8874081); (R-HSA-9638630); (R-HSA-9913351); (R-HSA-9925563)", "pathway_count": 7, "publication_count": 84, "publication_id_list": "10.1101/2023.09.13.557529;10022829;10189375;10225960;10441321;10521801;10545507;10893187;10932245;10942431;11054877;11237011;11352924;11430802;11495720;11739641;11847221;11964076;12189167;12237301;1319059;15175026;16413178;16524571;16581764;16782899;16806867;17574028;17905726;18764929;19346169;19946898;20044576;20802513;21572413;22159078;22223806;22493504;24480479;27862975;29247375;29557506;29626609;29786170;29795281;31154438;31530632;31848261;32161166;32387766;3282674;33968037;33981976;34171305;34304441;35051231;37074911;38758065;3997977;7509446;7527495;7547961;7592992;7844150;7925941;8043271;8054685;8268918;8349731;8576247;8607994;8627307;8798547;8845841;9214383;9245798;9405466;9412493;9417118;9645947;9652404;9659899;9659900;9864373", "class_list": "", "function": "Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components., [UniProtKB]; LAMC3 mutation causes structural and functional impairments in visual attention networks., [RefSeq, PubMed]; Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 3. The gamma 3 chain is most similar to the gamma 1 chain, and contains all the 6 domains expected of the gamma chain. It is a component of laminin 12. The gamma 3 chain is broadly expressed in skin, heart, lung, and the reproductive tracts. In skin, it is seen within the basement membrane of the dermal-epidermal junction at points of nerve penetration. Gamma 3 is also a prominent element of the apical surface of ciliated epithelial cells of lung, oviduct, epididymis, ductus deferens, and seminiferous tubules. The distribution of gamma 3-containing laminins along ciliated epithelial surfaces suggests that the apical laminins are important in the morphogenesis and structural stability of the ciliated processes of these cells. [provided by RefSeq, Aug 2011]., [RefSeq]; Novel LAMC3 pathogenic variant enriched in Finnish population causes malformations of cortical development and severe epilepsy., [RefSeq, PubMed]; Study reports a novel mutation in LAMC3 associated with generalized polymicrogyria of the cortex and epilepsy. Study identified a homozygous nonsense mutation in LAMC3: c.3190C>T (p.Gln1064*)., [RefSeq, PubMed]; These data demonstrate a unique temporal and spatial expression for laminins and reveal a novel role for laminin gamma3 during human retinogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; [Relationships between decreased LAMC3 and poor prognosis in ovarian cancer]., [RefSeq, 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": 4, "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": 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": 0, "reported_glycation": 0, "reported_snv": 67, "reported_interactions": 0, "missing_score": 9507, "biomarker_type": "", "glycan_count": 17, "disease_count": 2, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "B1APX9;B1APY0;Q59H72", "ec_number_list": "", "go_molecular_function": "GO:0005198 structural molecule activity;GO:0005201 extracellular matrix structural constituent", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0016020 membrane;GO:0031012 extracellular matrix;GO:0005604 basement membrane", "go_biological_process": "GO:0034446 substrate adhesion-dependent cell spreading", "synthesized_glycan_count": 0, "hit_score": 10.7, "record_id": "Q9Y6N6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O00488-1", "uniprot_id": "ZN593_HUMAN", "mass": 15199.0, "length": 134, "protein_name": "Zinc finger protein 593", "gene_name": "ZNF593", "organism": "Human", "refseq_name": "zinc finger protein 593", "refseq_ac": "NP_056955", "gene_names_uniprotkb": "ZNF593; ZT86", "gene_names_refseq": "ZNF593; ZT86", "protein_names_uniprotkb": "Zinc finger protein 593; Zinc finger protein T86", "protein_names_refseq": "BUD20 homolog; zinc finger protein 593; zinc finger protein T86", "tax_id": 9606, "disease": "", "pathway": " (hsa:51042)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "11237011;12429849;17081983;18287285;18452278;18669648;19664995;20068231;25418920;25576301;25802875;25892735;26992070;27397612;27846572;27920218;28063628;28228285;28904123;29393594;29493099;29632046;30315122;30429286;31217245;31844290;32161166;32265295;32357974;32387766;32488085;32669547;32938616;33550812;33717175;35580925;36010968;37217939;37938771;38665916;9115366", "class_list": "", "function": "Involved in pre-60S ribosomal particles maturation by promoting the nuclear export of the 60S ribosome (PubMed:32669547). Negatively modulates the DNA binding activity of Oct-2 and therefore its transcriptional regulatory activity (PubMed:9115366)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; LncRNA ZNF593-AS Alleviates Contractile Dysfunction in Dilated Cardiomyopathy., [RefSeq, PubMed]; The tertiary structure of the zinc finger domain of ZNF593 is composed of a beta-hairpin that positions the cysteine side chains for zinc coordination, followed by an atypical kinked alpha-helix containing the two histidine side chain ligands., [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": "B2R4S0;Q5T2H7", "ec_number_list": "", "go_molecular_function": "GO:1990275 preribosome binding;GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0043021 ribonucleoprotein complex binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0042254 ribosome biogenesis;GO:1903026 negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "O00488-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O94953-1", "uniprot_id": "KDM4B_HUMAN", "mass": 121897.0, "length": 1096, "protein_name": "Lysine-specific demethylase 4B", "gene_name": "KDM4B", "organism": "Human", "refseq_name": "lysine-specific demethylase 4B isoform 1", "refseq_ac": "NP_055830", "gene_names_uniprotkb": "KDM4B; JHDM3B; JMJD2B; KIAA0876", "gene_names_refseq": "JMJD2B; KDM4B; MRD65; TDRD14B", "protein_names_uniprotkb": "Lysine-specific demethylase 4B; 1.14.11.66; JmjC domain-containing histone demethylation protein 3B; Jumonji domain-containing protein 2B; [histone H3]-trimethyl-L-lysine(9) demethylase 4B", "protein_names_refseq": "[histone H3]-trimethyl-L-lysine(9) demethylase 4B; jmjC domain-containing histone demethylation protein 3B; jumonji domain containing 2B; jumonji domain-containing protein 2B; lysine (K)-specific demethylase 4B; lysine-specific demethylase 4B isoform 1; lysine-specific demethylase 4B; tudor domain containing 14B", "tax_id": 9606, "disease": "medulloblastoma (Disease Ontology:DOID:0050902); autosomal dominant intellectual developmental disorder 65 (Disease Ontology:DOID:0061038); prostate cancer (Disease Ontology:DOID:10283); stomach cancer (Disease Ontology:DOID:10534); urinary bladder cancer (Disease Ontology:DOID:11054); lung cancer (Disease Ontology:DOID:1324); alcohol use disorder (Disease Ontology:DOID:1574); breast cancer (Disease Ontology:DOID:1612); malignant peripheral nerve sheath tumor (Disease Ontology:DOID:5940); colorectal cancer (Disease Ontology:DOID:9256); alopecia areata (Disease Ontology:DOID:986)", "pathway": " (hsa:23030); (R-HSA-3214842); (R-HSA-5693565); (R-HSA-9018519)", "pathway_count": 4, "publication_count": 302, "publication_id_list": "10500157;10550055;10724175;10766245;10802669;10828826;10866324;10873660;10959836;10973490;11010967;11025670;11034064;11103799;11114888;11136970;11165043;11237011;11345900;11390408;11410592;11452016;11571274;11573085;11581164;11682626;11893489;11927591;11934988;12364621;12447390;12485996;12498683;12607003;12607005;12612073;12697768;12773400;12792649;12832489;12890688;12959972;14560035;14631847;14675539;15001666;15064416;15201865;15276198;15279782;15282324;15302935;15343269;15345050;15514030;15620353;15927959;15986123;16009131;16046058;16087863;16113099;16150728;1630819;16362057;16377563;16427009;16603237;16603238;16651405;16732292;16732293;16738407;16980581;17013392;17277772;17310255;17320163;17351631;17463000;17495528;17510434;17525332;17525340;17553757;17637753;17666587;17690249;17713478;17848578;17947579;18001824;18001825;18006705;18077395;18187655;18219272;18256232;18322535;18358809;18443292;18476782;18533032;18644861;18762174;18805503;19001364;19001859;19020303;19092802;19098913;19117993;19176521;19203578;19203579;19234442;19261749;19274700;19295514;19321454;19351884;19383337;19502796;19608861;19690332;19718048;19727073;19782031;19843542;20016603;20023638;20023648;20084082;20129925;20208542;20219941;20220130;20351172;20457893;20498280;20570965;20622853;20622854;20682797;21106759;21151129;21282113;21293379;21445275;21532585;21573489;2181374;21835891;21878914;21934649;21940756;22056668;22234877;22265404;22373579;22492511;22508508;22545144;22589545;22615488;22645359;22704330;22908299;22980979;23145106;23172872;23186163;23192763;23303788;23403292;23435229;23723241;23906331;24167369;24275569;24371278;24667604;24714562;24715725;24735615;24854081;24885040;24973012;24998469;25296600;25365482;25433557;25542856;25576301;25633194;25663755;25674852;25728767;25880248;26056233;26153859;26154972;26204489;26462610;26479350;26992070;27062924;27600516;27846572;27862975;27886276;27920218;28218747;28228285;28262558;28514659;28539435;28832583;28834231;28904123;28945223;2919170;29242379;29393594;29437277;29493099;29508533;29557506;29563586;29632046;29632711;29769354;29786170;30192525;30315122;30379171;30410026;30429286;3045126;30524438;31217245;31647098;31844290;32157095;32357974;32387766;32488085;32502341;3281094;32897882;32938616;32983136;33123756;33232677;33298915;33392160;33592498;33633747;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34433824;34509645;34932366;3498214;35051231;35561310;35580925;36010968;36241641;36284347;3677090;36952476;37087529;37249813;37938771;38093312;38660840;39894887;41350704;7559524;7935485;7937828;8195246;8197458;8419924;8876171;8944023;9168116;9201922;9338790;9388265;9488723;9611253;9671459;9731700", "class_list": "", "function": "HIF1alpha-mediated transactivation of WTAP promotes AML cell proliferation via m[6]A-dependent stabilization of KDM4B mRNA., [RefSeq, PubMed]; Histone demethylase KDM4B accelerates the progression of glioblastoma via the epigenetic regulation of MYC stability. Publication Status: Online-Only, [RefSeq, PubMed]; Histone demethylase KDM4B contributes to advanced clear cell renal carcinoma and association with copy number variations and cell cycle progression., [RefSeq, PubMed]; Histone demethylase that specifically demethylates 'Lys-9' of histone H3, thereby playing a role in histone code. Does not demethylate histone H3 'Lys-4', H3 'Lys-27', H3 'Lys-36' nor H4 'Lys-20'. Only able to demethylate trimethylated H3 'Lys-9', with a weaker activity than KDM4A, KDM4C and KDM4D. Demethylation of Lys residue generates formaldehyde and succinate (PubMed:16603238, PubMed:28262558). Plays a critical role in the development of the central nervous system (CNS)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; KDM4B down-regulation facilitated breast cancer cell stemness via PHGDH upregulation in H3K36me3-dependent manner., [RefSeq, PubMed]; [The Regulatory Effect of RNA m[6] A Methylation Modification on KDM4B Gene Expression in t (8;21) AML Cells by MeRIP-qPCR]., [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": 1, "reported_glycation": 0, "reported_snv": 25, "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": "B9EGN8;D6W631;O75274;Q6P3R5;Q9P1V1;Q9UF40", "ec_number_list": "1.14.11.66;1.14.11.-;1.14.11.69;2.3.2.27;2.3.2.26;2.1.1.357;3.1.-.-;2.3.2.23;2.3.2.-;2.7.11.1;1.14.11.79;3.6.-.-;2.3.1.48;2.3.1.-", "go_molecular_function": "GO:0051864 histone H3K36 demethylase activity;GO:0008270 zinc ion binding;GO:0032452 histone demethylase activity;GO:0032454 histone H3K9 demethylase activity;GO:0140684 histone H3K9me2/H3K9me3 demethylase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0005721 pericentric heterochromatin", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0007420 brain development;GO:0010468 regulation of gene expression;GO:0006325 chromatin organization", "synthesized_glycan_count": 0, "hit_score": 30.5, "record_id": "O94953-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92876-1", "uniprot_id": "KLK6_HUMAN", "mass": 26856.0, "length": 244, "protein_name": "Kallikrein-6", "gene_name": "KLK6", "organism": "Human", "refseq_name": "kallikrein-6 isoform A preproprotein", "refseq_ac": "NP_001012982", "gene_names_uniprotkb": "KLK6; PRSS18; PRSS9", "gene_names_refseq": "Bssp; KLK6; Klk7; PRSS18; PRSS9; SP59; hK6", "protein_names_uniprotkb": "Kallikrein-6; 3.4.21.-; Neurosin; Protease M; SP59; Serine protease 18; Serine protease 9; Zyme", "protein_names_refseq": "kallikrein-6 isoform A preproprotein; neurosin; protease M; serine protease 18; serine protease 9; zyme", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); Alzheimer's disease (Disease Ontology:DOID:10652); Lewy body dementia (Disease Ontology:DOID:12217); Parkinson's disease (Disease Ontology:DOID:14330); ovarian cancer (Disease Ontology:DOID:2394); demyelinating disease (Disease Ontology:DOID:3213); breast carcinoma (Disease Ontology:DOID:3459); renal cell carcinoma (Disease Ontology:DOID:4450); multiple system atrophy (Disease Ontology:DOID:4752)", "pathway": " (hsa:5653)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "10610719;10997858;11018688;11054574;11237011;11668196;11983703;12016211;12878203;12928483;15207701;15557757;15867230;16321973;16800739;16987227;17417874;19088065;23090970;24190977;25576301;29557506;32125861;33981976;34065672;35883559;36193495;36413626;8898378;9003450;9312124", "class_list": "", "function": "A KLK6 Activity-Based Probe Reveals a Role for KLK6 Activity in Pancreatic Cancer Cell Invasion., [RefSeq, PubMed]; KLK6 Functions as an Oncogene and Unfavorable Prognostic Factor in Bladder Urothelial Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Kallikrein-Related Peptidase 6 (KLK6) as a Contributor toward an Aggressive Cancer Cell Phenotype: A Potential Role in Colon Cancer Peritoneal Metastasis. Publication Status: Online-Only, [RefSeq, PubMed]; Molecular Pathways Associated with Kallikrein 6 Overexpression in Colorectal Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Serine protease which exhibits a preference for Arg over Lys in the substrate P1 position and for Ser or Pro in the P2 position. Shows activity against amyloid precursor protein, myelin basic protein, gelatin, casein and extracellular matrix proteins such as fibronectin, laminin, vitronectin and collagen. Degrades alpha-synuclein and prevents its polymerization, indicating that it may be involved in the pathogenesis of Parkinson disease and other synucleinopathies. May be involved in regulation of axon outgrowth following spinal cord injury. Tumor cells treated with a neutralizing KLK6 antibody migrate less than control cells, suggesting a role in invasion and metastasis., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the kallikrein subfamily of the peptidase S1 family of serine proteases. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. The encoded preproprotein is proteolytically processed to generate the mature protease. Expression of this protease is regulated by steroid hormones and may be elevated in multiple human cancers and in serum from psoriasis patients. The encoded protease may participate in the cleavage of amyloid precursor protein and alpha-synuclein, thus implicating this protease in Alzheimer's and Parkinson's disease, respectively. This gene is located in a gene cluster on chromosome 19. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 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": 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": 820, "biomarker_type": "monitoring", "glycan_count": 18, "disease_count": 9, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NJA1;A8MW09;Q6H301", "ec_number_list": "", "go_molecular_function": "GO:0004252 serine-type endopeptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0045745 positive regulation of G protein-coupled receptor signaling pathway;GO:0042552 myelination;GO:0007417 central nervous system development;GO:0009611 response to wounding;GO:0042982 amyloid precursor protein metabolic process", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q92876-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q0VAA2-1", "uniprot_id": "LR74A_HUMAN", "mass": 54535.0, "length": 488, "protein_name": "Leucine-rich repeat-containing protein 74A", "gene_name": "LRRC74A", "organism": "Human", "refseq_name": "leucine-rich repeat-containing protein 74A isoform 1", "refseq_ac": "NP_919263", "gene_names_uniprotkb": "LRRC74A; C14orf166B; LRRC74", "gene_names_refseq": "C14orf166B; LRRC74A; LRRC74", "protein_names_uniprotkb": "Leucine-rich repeat-containing protein 74A; Leucine-rich repeat-containing protein 74", "protein_names_refseq": "leucine rich repeat containing 74; leucine-rich repeat-containing protein 74A isoform 1; leucine-rich repeat-containing protein 74A; leucine-rich repeat-containing protein 74", "tax_id": 9606, "disease": "", "pathway": " (hsa:145497)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;20379614;26811146;29557506;33091337;33392160;37217939", "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": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": "Q6ZUG6;Q9Y627", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q0VAA2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P33241-1", "uniprot_id": "LSP1_HUMAN", "mass": 37192.0, "length": 339, "protein_name": "Lymphocyte-specific protein 1", "gene_name": "LSP1", "organism": "Human", "refseq_name": "lymphocyte-specific protein 1 isoform 2", "refseq_ac": "NP_001013271", "gene_names_uniprotkb": "LSP1; WP34", "gene_names_refseq": "LSP1; WP34; pp52", "protein_names_uniprotkb": "Lymphocyte-specific protein 1; 47 kDa actin-binding protein; 52 kDa phosphoprotein; Lymphocyte-specific antigen WP34; pp52", "protein_names_refseq": "47 kDa actin binding protein; 52 kDa phosphoprotein; F-actin binding and cytoskeleton associated protein; leufactin (leukocyte F-actin binding protein); leukocyte-specific protein 1; lymphocyte-specific antigen WP34; lymphocyte-specific protein 1 isoform 2", "tax_id": 9606, "disease": "breast cancer (Disease Ontology:DOID:1612)", "pathway": " (hsa:4046)", "pathway_count": 1, "publication_count": 92, "publication_id_list": "11237011;17074750;17481585;18446792;19367720;19413330;19608861;19690332;20058876;20166139;2174784;22544926;2295815;23328677;23481700;23719902;23783831;24275569;24714562;24715725;25502872;25505266;25576301;25892735;26154972;26375851;26728094;26992070;27862975;27920218;28228285;28467828;28649982;28832583;28834231;28855257;28904123;29242379;29351928;29393594;29493099;29508533;29557506;29632711;29769354;29786170;29789417;30379171;30429286;30524438;30784271;31154438;31217245;31222486;31530632;31611695;31844290;31848261;31937595;31998317;32157095;32350084;32357974;32502341;32897882;32983136;33123756;33141586;33298915;33691108;33717175;33912179;33936100;34171305;34185709;34211107;34433824;34509645;34932366;35051231;35132862;35154160;35561310;35580925;36284347;36397430;37928435;38254711;38511641;40914422;8274738;8995217", "class_list": "", "function": "LSP1 promotes the progression of acute myelogenous leukemia by regulating KSR/ERK signaling pathway and cell migration., [RefSeq, PubMed]; Lymphocyte-Specific Protein 1 Regulates Expression and Stability of Endothelial Nitric Oxide Synthase. Publication Status: Online-Only, [RefSeq, PubMed]; May play a role in mediating neutrophil activation and chemotaxis., [UniProtKB]; The correlation of leukocyte-specific protein 1 (LSP1) rs3817198(T>C) polymorphism with breast cancer: A meta-analysis., [RefSeq, PubMed]; This gene encodes an intracellular F-actin binding protein. The protein is expressed in lymphocytes, neutrophils, macrophages, and endothelium and may regulate neutrophil motility, adhesion to fibrinogen matrix proteins, and transendothelial migration. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]; Tim-3 Is Differentially Expressed during Cell Activation and Interacts with the LSP-1 Protein in Human Macrophages. 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": 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": 16, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "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": "B3KPP1;B3KRR6;E9PBV6;E9PFP3;Q16096;Q53H48;Q6FHM3;Q9BUY8", "ec_number_list": "", "go_molecular_function": "GO:0003779 actin binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0015629 actin cytoskeleton;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007165 signal transduction;GO:0006968 cellular defense response", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "P33241-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y5Y7-1", "uniprot_id": "LYVE1_HUMAN", "mass": 35213.0, "length": 322, "protein_name": "Lymphatic vessel endothelial hyaluronic acid receptor 1", "gene_name": "LYVE1", "organism": "Human", "refseq_name": "lymphatic vessel endothelial hyaluronic acid receptor 1 precursor", "refseq_ac": "NP_006682", "gene_names_uniprotkb": "LYVE1; CRSBP1; HAR; PRO263; XLKD1", "gene_names_refseq": "CRSBP-1; HAR; LYVE-1; LYVE1; XLKD1", "protein_names_uniprotkb": "Lymphatic vessel endothelial hyaluronic acid receptor 1; CRSBP-1; Cell surface retention sequence-binding protein 1; Extracellular link domain-containing protein 1; Hyaluronic acid receptor; LYVE-1", "protein_names_refseq": "cell surface retention sequence binding protein-1; extracellular link domain-containing 1; extracellular link domain-containing protein 1; lymphatic vessel endothelial hyaluronic acid receptor 1 precursor; lymphatic vessel endothelial hyaluronic acid receptor 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10894); (R-HSA-2142845); (R-HSA-2160916)", "pathway_count": 3, "publication_count": 52, "publication_id_list": "10037799;11237011;11350981;11568288;11689016;11719431;12975309;1426053;14514708;15035633;15090545;15208308;15503855;15510212;16104017;16335952;1703543;17050540;17145755;17540771;17693683;18434317;19159218;23090970;23345538;23509262;24847057;26823460;29391424;2971395;29741879;30237853;30459171;31611695;31848261;32157095;33446503;33968037;3468507;34775672;35159221;35580925;37074911;37810197;8282124;8798477;8798544;8890751;8901634;9083017;9601098;9712871", "class_list": "", "function": "An immunohistochemical study of lymphatic elements in the human brain., [RefSeq, PubMed]; Hsa_circ_0129047 Upregulates LYVE1 to Inhibit Hepatocellular Carcinoma Progression by Sponging miR-492. Publication Status: Online-Only, [RefSeq, PubMed]; LYVE-1 is not exclusive to the lymph vessels, [RefSeq, PubMed]; Ligand-specific transporter trafficking between intracellular organelles (TGN) and the plasma membrane. Plays a role in autocrine regulation of cell growth mediated by growth regulators containing cell surface retention sequence binding (CRS). May act as a hyaluronan (HA) transporter, either mediating its uptake for catabolism within lymphatic endothelial cells themselves, or its transport into the lumen of afferent lymphatic vessels for subsequent re-uptake and degradation in lymph nodes (PubMed:10037799). Binds to pericelluar hyaluronan matrices deposited on the surface of leukocytes and facilitates cell adhesion and migration through lymphatic endothelium (PubMed:26823460)., [UniProtKB, PubMed, PubMed]; New approach measuring lymphangiogenesis using LYVE-1, a novel, specific lymphatic marker in breast cancer tissue, [RefSeq, PubMed]; Single-Cell RNA-Seq Reveals a Crosstalk between Hyaluronan Receptor LYVE-1-Expressing Macrophages and Vascular Smooth Muscle Cells. Publication Status: Online-Only, [RefSeq, PubMed]; The prognostic influence of lymphatic endothelium-specific hyaluronan receptor 1 in cancer: A systematic review., [RefSeq, PubMed]; This gene encodes a type I integral membrane glycoprotein. The encoded protein acts as a receptor and binds to both soluble and immobilized hyaluronan. This protein may function in lymphatic hyaluronan transport and have a role in tumor metastasis. [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": 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": 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": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 8593, "biomarker_type": "", "glycan_count": 27, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q8TC18;Q9UNF4", "ec_number_list": "", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0005540 hyaluronic acid binding;GO:0038024 cargo receptor activity;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0071944 cell periphery", "go_biological_process": "GO:0007160 cell-matrix adhesion;GO:0009611 response to wounding;GO:0006898 receptor-mediated endocytosis;GO:0009653 anatomical structure morphogenesis;GO:0030214 hyaluronan catabolic process", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "Q9Y5Y7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5W064-1", "uniprot_id": "LIPJ_HUMAN", "mass": 42388.0, "length": 366, "protein_name": "Lipase member J", "gene_name": "LIPJ", "organism": "Human", "refseq_name": "lipase member J isoform 1", "refseq_ac": "NP_001010939", "gene_names_uniprotkb": "LIPJ; LIPL1", "gene_names_refseq": "LIPJ; LIPL1; bA425M17.2", "protein_names_uniprotkb": "Lipase member J; 3.1.1.-; Lipase-like abhydrolase domain-containing protein 1", "protein_names_refseq": "lipase J; lipase member J isoform 1; lipase member J; lipase-like abhydrolase domain-containing protein 1; lipase-like, ab-hydrolase domain containing 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:142910); (R-HSA-6809371)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11237011;11350120;11380615;11590230;12902340;15033990;15337775;15797384;15803139;16061697;16639001;17515931;17562024;17596512;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23629652;24715725;25926655;26390218;26992070;29741879;35051231;7543090;8824274;8999895;9395522;9565599", "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": 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": 8, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8MT98;Q0P671", "ec_number_list": "3.1.1.13;3.1.1.3;3.1.1.-", "go_molecular_function": "GO:0016298 lipase activity;GO:0052689 carboxylic ester hydrolase activity", "go_cellular_component": "", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0016042 lipid catabolic process", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q5W064-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P30086-1", "uniprot_id": "PEBP1_HUMAN", "mass": 21057.0, "length": 187, "protein_name": "Phosphatidylethanolamine-binding protein 1", "gene_name": "PEBP1", "organism": "Human", "refseq_name": "phosphatidylethanolamine-binding protein 1", "refseq_ac": "NP_002558", "gene_names_uniprotkb": "PEBP1; PBP; PEBP", "gene_names_refseq": "HCNPpp; HCNP; HEL-210; HEL-S-34; HEL-S-96; PBP; PEBP-1; PEBP1; PEBP; RKIP", "protein_names_uniprotkb": "Phosphatidylethanolamine-binding protein 1; HCNPpp; Neuropolypeptide h3; PEBP-1; Prostatic-binding protein; RKIP; Raf kinase inhibitor protein", "protein_names_refseq": "Raf kinase inhibitory protein; epididymis luminal protein 210; epididymis secretory protein Li 34; epididymis secretory protein Li 96; hippocampal cholinergic neurostimulating peptide; neuropolypeptide h3; phosphatidylethanolamine-binding protein 1; prostatic binding protein; raf kinase inhibitor protein", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); Alzheimer's disease (Disease Ontology:DOID:10652); ovarian cancer (Disease Ontology:DOID:2394); myocardial infarction (Disease Ontology:DOID:5844)", "pathway": " (hsa:5037); (R-HSA-5674135); (R-HSA-5675221); (R-HSA-6802946); (R-HSA-6802948); (R-HSA-6802952); (R-HSA-6802955); (R-HSA-9649948)", "pathway_count": 8, "publication_count": 226, "publication_id_list": "10.1101/2023.09.13.557529;10206983;10209122;10409742;10415025;10490027;10622376;10702794;10725339;10757792;10891492;11325826;11802164;11802165;12068308;12473660;12479806;12551925;12583813;12832465;1286669;14636584;14654844;14724641;14970219;15035987;15118098;15239952;15260967;15520807;15543157;15547943;15630448;15664191;15851477;16135787;16364920;16508002;16702958;16879721;16892053;17018604;17081983;17097642;17145369;17145850;17178906;17322306;17496912;17563371;17724343;18287029;18294816;18332145;18515281;18547165;18559533;18562239;18669648;18767875;18974108;19091303;19091743;19103740;19158341;19219045;19242111;19279408;19413330;19415658;19531498;19551145;19562805;19615748;19651622;19664995;19690332;19933846;20068231;20130576;20141835;20166139;20179705;20305658;20332238;20526349;20818844;20858867;21107323;21406692;21424530;21514245;21639808;21689459;21779496;21831839;21993244;22043453;22113612;22177953;22292133;22356324;22395615;22510884;22569528;22589270;22730326;22745804;22905912;23105109;23171796;23186163;23288408;23352452;23453624;23555621;23583981;23614898;23667175;23680146;23934108;24121058;24135138;24202393;24275569;24286018;24345920;24651010;24714562;24715725;24746704;24937142;24957944;25104559;25195011;25204415;25231108;25313996;25314968;25435214;25502872;25576301;25597358;25645385;25907612;26154972;26375851;26992070;27227380;27452731;27470585;27540684;27846572;27862975;28467828;28529999;28834231;28855257;28939558;29242379;29314611;29393594;29467321;29493099;29557506;30034615;30429286;30794926;31154438;31217245;31844290;32119511;32157095;32350084;32357974;32387766;32488085;3287375;32938616;32983136;33091337;33214551;33592498;33717175;33912179;33968037;34019948;34171305;34229054;34357683;34509645;34561969;34725712;34932366;35051231;35138101;35154160;35251023;35561310;35580925;36215666;36241641;36284347;37340703;37475847;37938771;38135812;38363884;38608337;38665916;38914697;40596516;7565670;7565795;7637590;7731720;7807553;7929275;7935411;8051079;8144042;8157000;9020159;9733512;9782050;9858547", "class_list": "", "function": "Binds ATP, opioids and phosphatidylethanolamine. Has lower affinity for phosphatidylinositol and phosphatidylcholine. Serine protease inhibitor which inhibits thrombin, neuropsin and chymotrypsin but not trypsin, tissue type plasminogen activator and elastase (By similarity). Inhibits the kinase activity of RAF1 by inhibiting its activation and by dissociating the RAF1/MEK complex and acting as a competitive inhibitor of MEK phosphorylation., [UniProtKB, PubMed]; Bmi-1 promotes the proliferation, migration and invasion, and inhibits cell apoptosis of human retinoblastoma cells via RKIP. Erratum:[Sci Rep. 2025 Aug 5;15(1):28521. doi: 10.1038/s41598-025-11879-x. PMID: 40764337] Publication Status: Online-Only, [RefSeq, PubMed]; Clinical Significance of Frequently Down-Regulated Phosphatidylethanolamine-Binding Protein-1 in Gallbladder Cancer., [RefSeq, PubMed]; HCNP may be involved in the function of the presynaptic cholinergic neurons of the central nervous system. HCNP increases the production of choline acetyltransferase but not acetylcholinesterase. Seems to be mediated by a specific receptor (By similarity)., [UniProtKB]; Prognostic significance of RKIP, TGM2, and CMTM4 expression in oral squamous cell carcinoma., [RefSeq, PubMed]; Raf kinase inhibitor protein combined with phosphorylated extracellular signal-regulated kinase offers valuable prognosis in gastrointestinal stromal tumor., [RefSeq, PubMed]; Raf kinase inhibitor protein expression in smooth muscle tumours of the uterus: a diagnostic marker for leiomyosarcoma?, [RefSeq, PubMed]; This gene encodes a member of the phosphatidylethanolamine-binding family of proteins and has been shown to modulate multiple signaling pathways, including the MAP kinase (MAPK), NF-kappa B, and glycogen synthase kinase-3 (GSK-3) signaling pathways. The encoded protein can be further processed to form a smaller cleavage product, hippocampal cholinergic neurostimulating peptide (HCNP), which may be involved in neural development. This gene has been implicated in numerous human cancers and may act as a metastasis suppressor gene. Multiple pseudogenes of this gene have been identified in the genome. [provided by RefSeq, Jul 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": 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": 16, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 4, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2R4S1", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0004867 serine-type endopeptidase inhibitor activity;GO:0005524 ATP binding;GO:0019899 enzyme binding;GO:0019901 protein kinase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0043409 negative regulation of MAPK cascade", "synthesized_glycan_count": 0, "hit_score": 23.1, "record_id": "P30086-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13162-1", "uniprot_id": "PRDX4_HUMAN", "mass": 30540.0, "length": 271, "protein_name": "Peroxiredoxin-4", "gene_name": "PRDX4", "organism": "Human", "refseq_name": "peroxiredoxin-4 precursor", "refseq_ac": "NP_006397", "gene_names_uniprotkb": "PRDX4", "gene_names_refseq": "AOE37-2; AOE372; HEL-S-97n; PRDX4; PRX-4", "protein_names_uniprotkb": "Peroxiredoxin-4; 1.11.1.24; AOE37-2; Antioxidant enzyme AOE372; Peroxiredoxin IV; Prx-IV; Thioredoxin peroxidase AO372; Thioredoxin-dependent peroxide reductase A0372; Thioredoxin-dependent peroxiredoxin 4", "protein_names_refseq": "antioxidant enzyme AOE372; epididymis secretory sperm binding protein Li 97n; peroxiredoxin IV; peroxiredoxin-4 precursor; prx-IV; thioredoxin peroxidase (antioxidant enzyme); thioredoxin peroxidase AO372; thioredoxin-dependent peroxide reductase A0372; thioredoxin-dependent peroxiredoxin 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:10549); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 80, "publication_id_list": "11237011;12059788;12080185;16408927;18052930;19892738;20112406;21916849;21994946;23301498;23576270;23650620;24715725;25418920;25502872;25576301;26375851;26811146;26992070;27452731;27846572;27920218;28832583;28834231;28904123;29242379;29314611;29393594;29632046;29786170;30315122;30410026;30573663;30779550;30833945;31020640;31217245;31611695;31844290;31848261;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32938616;32983136;33141586;33214551;33298915;33535333;33592498;33691108;33968037;34019948;34087483;34171305;34357683;34509645;34725712;34932366;35051231;35083852;35154160;35251023;35263665;35580925;36010968;36215666;36241641;37787446;38641608;38665916;40914422;40930100;8692836;9388242", "class_list": "", "function": "2-Cys Prxs act in a mutually nonredundant and sometimes stress-specific fashion to protect human cells from oxidant injury. The substantial resistance of human cells to hydroperoxides may result in part from the additive action of multiple Prxs, [RefSeq, PubMed]; Peroxiredoxin 4 regulates tumor-cell-like characteristics of fibroblast-like synoviocytes in rheumatoid arthritis through PI3k/Akt signaling pathway., [RefSeq, PubMed]; Revealing Prdx4 as a potential diagnostic and therapeutic target for acute pancreatitis based on machine learning analysis. Publication Status: Online-Only, [RefSeq, PubMed]; The combination of the low immunohistochemical expression of peroxiredoxin 4 and perilipin 2 predicts longer survival in pancreatic ductal adenocarcinoma with peroxiredoxin 4 possibly playing a main role., [RefSeq, PubMed]; The protein encoded by this gene is an antioxidant enzyme and belongs to the peroxiredoxin family. The protein is localized to the cytoplasm. Peroxidases of the peroxiredoxin family reduce hydrogen peroxide and alkyl hydroperoxides to water and alcohol with the use of reducing equivalents derived from thiol-containing donor molecules. This protein has been found to play a regulatory role in the activation of the transcription factor NF-kappaB. [provided by RefSeq, Jul 2008]., [RefSeq]; 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 and as sensor of hydrogen peroxide-mediated signaling events. Regulates the activation of NF-kappa-B in the cytosol by a modulation of I-kappa-B-alpha phosphorylation., [UniProtKB, PubMed]; [Differential expression of PRDX4 in alveolar macrophages of patients with silicosis]., [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": "Q6FHT3", "ec_number_list": "3.4.19.12;3.6.4.13;2.7.1.35;1.1.1.42;2.4.2.1;3.4.21.46;1.16.3.1;1.11.1.6;4.1.2.13;2.4.1.1;5.3.1.9;5.1.3.-;3.4.23.5;3.4.22.52;2.4.2.7;3.4.22.1;3.6.4.10;3.2.1.31;2.5.1.18;2.7.10.2;1.13.11.-;1.13.11.34;3.3.2.6;3.4.11.4;1.11.1.7;1.1.1.205;4.2.99.18;5.6.2.4;3.6.5.-;4.2.1.24;3.4.19.1;5.3.2.1;5.3.3.12;2.7.11.1;2.7.1.40;3.4.24.35;3.1.6.14;3.1.6.12;3.2.1.23;2.7.1.11;5.4.2.11;5.4.2.4;2.7.4.6;2.7.13.3;3.4.22.27;2.7.11.24;1.11.1.24;3.5.4.5;5.4.2.2;2.4.1.186;3.6.1.-;2.7.1.1;2.7.1.-;2.3.3.8;3.6.4.6;5.2.1.8;3.1.1.47;3.1.1.-;3.5.4.6;2.7.11.39;3.5.1.23;3.5.1.-;3.5.1.109;2.7.11.22;2.7.11.23;2.3.2.5;2.3.2.26;3.6.1.6;5.4.2.7;3.4.25.1;2.3.2.27;3.4.18.1;4.1.2.4", "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0042802 identical protein binding;GO:0008379 thioredoxin peroxidase activity;GO:0140313 molecular sequestering activity;GO:0140824 thioredoxin-dependent peroxiredoxin activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0034774 secretory granule lumen", "go_biological_process": "GO:0006979 response to oxidative stress;GO:0045454 cell redox homeostasis;GO:0042744 hydrogen peroxide catabolic process;GO:0007252 I-kappaB phosphorylation", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "Q13162-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y2Z0-1", "uniprot_id": "SGT1_HUMAN", "mass": 41024.0, "length": 365, "protein_name": "Protein SGT1 homolog", "gene_name": "SUGT1", "organism": "Human", "refseq_name": "protein SGT1 homolog isoform B", "refseq_ac": "NP_001124384", "gene_names_uniprotkb": "SUGT1", "gene_names_refseq": "SGT1; SUGT1", "protein_names_uniprotkb": "Protein SGT1 homolog; Protein 40-6-3; Sgt1; Suppressor of G2 allele of SKP1 homolog", "protein_names_refseq": "SGT1 homolog, MIS12 kinetochore complex assembly cochaperone; SGT1, suppressor of G2 allele of SKP1; protein SGT1 homolog isoform B; protein SGT1 homolog; putative 40-6-3 protein; suppressor of G2 allele of SKP1, S. cerevisiae, homolog of", "tax_id": 9606, "disease": "", "pathway": " (hsa:10910); (R-HSA-844456); (R-HSA-9660826)", "pathway_count": 3, "publication_count": 106, "publication_id_list": "10.1101/2023.09.13.557529;10445024;11157473;11313357;11498534;11786556;11967258;12191486;12615073;12665801;12746458;14595024;14761955;15018354;15346769;15592455;17036048;17349957;17435760;17603038;17703304;19570822;20023662;20068231;20303873;21654843;2182768;21864708;22223895;22645359;22869522;23186163;23301498;23817414;23878142;24366607;24715725;25114211;25218447;25576301;25892735;26116704;26549800;26758079;26992070;27920218;28218747;28228285;28510447;28514659;28832583;28904123;29242379;29437277;29493099;29557506;29712950;30315122;30410026;30429286;30484775;30656909;30779550;31154438;31217245;31222486;31530632;31844290;31848261;32157095;32350084;32387766;32488085;32502341;32514048;32938616;32983136;33091337;33214551;33392160;33592498;33633747;33912179;33968037;33981976;34019948;34087483;34171305;34185709;34229054;34357683;34827672;34932366;35051231;35154160;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37938771;38665916;450099;9023774", "class_list": "", "function": "May play a role in ubiquitination and subsequent proteasomal degradation of target proteins., [UniProtKB]; REVIEW: cellular function of S100A6 and its ligands, CacyBP/SIP and Sgt1 Review article, [RefSeq, PubMed]; SGt1.2 is a splicing variant of SGT1 and widely expressed in human adult tissue., [RefSeq, PubMed]; SUGT1 controls susceptibility to HIV-1 infection by stabilizing microtubule plus-ends., [RefSeq, PubMed]; Sgt1 Regulates alpha-Synuclein Subcellular Localization and Expression of Parkinson's Disease Related Genes, PINK1 and PARK9. Publication Status: Online-Only, [RefSeq, PubMed]; Sgt1 binds to S100A6 in a calcium-regulated manner, [RefSeq, PubMed]; This gene encodes a highly conserved nuclear protein involved in kinetochore function and required for the G1/S and G2/M transitions. This protein interacts with heat shock protein 90. Alternative splicing results in multiple transcript variants. Pseudogenes for this gene have been defined on several different chromosomes. [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": 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": 0, "reported_glycation": 0, "reported_snv": 4, "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": "A2A303;Q5JAK5;Q5TAM6;Q6VXY6", "ec_number_list": "", "go_molecular_function": "GO:0051087 protein-folding chaperone binding;GO:0106222 lncRNA binding", "go_cellular_component": "GO:0005829 cytosol;GO:0016604 nuclear body;GO:0000776 kinetochore;GO:0000151 ubiquitin ligase complex;GO:0032991 protein-containing complex", "go_biological_process": "GO:0051382 kinetochore assembly;GO:0031647 regulation of protein stability", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "Q9Y2Z0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5QJ74-1", "uniprot_id": "TBCEL_HUMAN", "mass": 48195.0, "length": 424, "protein_name": "Tubulin-specific chaperone cofactor E-like protein", "gene_name": "TBCEL", "organism": "Human", "refseq_name": "tubulin-specific chaperone cofactor E-like protein", "refseq_ac": "NP_001123519", "gene_names_uniprotkb": "TBCEL; LRRC35", "gene_names_refseq": "El; LRRC35; TBCEL", "protein_names_uniprotkb": "Tubulin-specific chaperone cofactor E-like protein; EL; Leucine-rich repeat-containing protein 35", "protein_names_refseq": "E-like; catastrophin; leucine rich repeat containing 35; leucine-rich repeat-containing protein 35; tubulin-specific chaperone cofactor E-like protein; tubulin-specific chaperone e-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:219899)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "10.1101/2023.09.13.557529;11237011;15728251;18262179;23186163;23301498;23481700;24366607;25576301;25645385;25880248;26154972;27600516;28228285;28832583;28855257;29242379;29508533;29557506;29786170;30315122;30410026;30429286;30779550;31844290;31848261;32157095;32357974;32938616;32983136;33592498;33691108;33717175;33968037;33981976;35051231;35580925;36241641;36284347", "class_list": "", "function": "Acts as a regulator of tubulin stability., [UniProtKB, PubMed]; Depletion of Op18 by means of RNA interference increased the susceptibility of tubulin to TBCE or E-like mediated disruption, while overexpressed Op18 exerted a tubulin-protective effect., [RefSeq, PubMed]; Leucine rich repeat containing 35 (E-like) is a novel regulator of tubulin stability with overexpression causing depolymerization of microtubules and suppression resulting in an increase in the number of stable 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": 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": 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": "Q0VAN6", "ec_number_list": "", "go_molecular_function": "GO:0043014 alpha-tubulin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005856 cytoskeleton", "go_biological_process": "GO:0000226 microtubule cytoskeleton organization;GO:0007021 tubulin complex assembly;GO:0007023 post-chaperonin tubulin folding pathway", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q5QJ74-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q02779-1", "uniprot_id": "M3K10_HUMAN", "mass": 103694.0, "length": 954, "protein_name": "Mitogen-activated protein kinase kinase kinase 10", "gene_name": "MAP3K10", "organism": "Human", "refseq_name": "mitogen-activated protein kinase kinase kinase 10", "refseq_ac": "NP_002437", "gene_names_uniprotkb": "MAP3K10; MLK2; MST", "gene_names_refseq": "MAP3K10; MEKK10; MLK2; MST", "protein_names_uniprotkb": "Mitogen-activated protein kinase kinase kinase 10; 2.7.11.25; Mixed lineage kinase 2; Protein kinase MST", "protein_names_refseq": "MKN28 derived nonreceptor_type serine/threonine kinase; MKN28 kinase; mitogen-activated protein kinase kinase kinase 10; mixed lineage kinase 2; protein kinase MST", "tax_id": 9606, "disease": "", "pathway": " (hsa:4294)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11237011;17344846;18691976;19369195;19690332;24715725;25418920;28214207;28947795;30410026;31844290;32157095;32323857;32502341;35051231;36215666;36341729;37217939;7731697;8477742;8536694", "class_list": "", "function": "Activates the JUN N-terminal pathway., [UniProtKB]; DNA methylation of the MAP3K10 gene may participate in the development of intracranial aneurysm., [RefSeq, PubMed]; DNA methylationregulated miR1555p depresses sensitivity of esophageal carcinoma cells to radiation and multiple chemotherapeutic drugs via suppression of MAP3K10., [RefSeq, PubMed]; MST interaction with MOB1 is not essential for development and tissue growth control. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the serine/threonine kinase family. This kinase has been shown to activate MAPK8/JNK and MKK4/SEK1, and this kinase itself can be phoshorylated, and thus activated by JNK kinases. This kinase functions preferentially on the JNK signaling pathway, and is reported to be involved in nerve growth factor (NGF) induced neuronal apoptosis. [provided by RefSeq, Jul 2008]., [RefSeq]; We identified a direct target of miR-155 as MAP3K10 in osteosarcoma, [RefSeq, PubMed]", "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": 7, "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": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q12761;Q14871", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0003714 transcription corepressor activity;GO:0043425 bHLH transcription factor binding", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0007165 signal transduction;GO:0043065 positive regulation of apoptotic process;GO:0046330 positive regulation of JNK cascade;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q02779-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60285-1", "uniprot_id": "NUAK1_HUMAN", "mass": 74305.0, "length": 661, "protein_name": "NUAK family SNF1-like kinase 1", "gene_name": "NUAK1", "organism": "Human", "refseq_name": "NUAK family SNF1-like kinase 1", "refseq_ac": "NP_055655", "gene_names_uniprotkb": "NUAK1; ARK5; KIAA0537; OMPHK1", "gene_names_refseq": "ARK5; NUAK1", "protein_names_uniprotkb": "NUAK family SNF1-like kinase 1; 2.7.11.1; AMPK-related protein kinase 5; ARK5; Omphalocele kinase 1", "protein_names_refseq": "AMP-activated protein kinase family member 5; AMPK-related protein kinase 5; NUAK family SNF1-like kinase 1; NUAK family, SNF1-like kinase, 1; omphalocele kinase 1", "tax_id": 9606, "disease": "uterine fibroid (Disease Ontology:DOID:13223)", "pathway": " (hsa:9891); (R-HSA-6804756)", "pathway_count": 2, "publication_count": 82, "publication_id_list": "10435622;10500146;10570149;10604467;10673500;10673501;10710310;10884347;11237011;11239457;11447225;11511362;11546806;11551930;11740489;11780126;12064478;12393879;12409306;12702766;12851404;12914926;13679856;14702041;14976552;14982852;15053879;15060171;15273717;15866171;16044163;16322561;16424013;16488889;17081983;17108107;17344846;17349958;17591690;18254724;18490454;19121998;19369195;19927127;19965871;20354225;20959462;21317932;23000554;23485397;23676219;24145406;24785407;24874608;25329316;25576301;26992070;27846572;29106388;29393594;29493099;29557506;29786170;30429286;30833945;31154438;31844290;31848261;32157095;32161166;32938616;33592498;33968037;34171305;35051231;36255069;36284347;36480792;36975767;37996927;38967580;9925639", "class_list": "", "function": "ARK5 negatively regulates procaspase-6 by phosphorylation at Ser257, leading to resistance to the FasL/Fas system., [RefSeq, PubMed]; ARK5 suppresses the apoptosis induced by nutrient starvation and death receptors via inhibition of caspase 8 activation., [RefSeq, PubMed]; Circ_0003998 upregulates ARK5 expression to elevate 5-Fluorouracil resistance in hepatocellular carcinoma through binding to miR-513a-5p., [RefSeq, PubMed]; DKK1 promotes NUAK1 transcriptional expression through the activation Akt in hepatocellular carcinoma., [RefSeq, PubMed]; Data suggest that a novel AMPK family member, ARK5, is the tumor cell survival factor activated by Akt and acts as an ATM kinase under the conditions of nutrient starvation., [RefSeq, PubMed]; Evaluation of ARK5 and SIRT3 expression in renal cell carcinoma and their clinical significance. Publication Status: Online-Only, [RefSeq, PubMed]; NUAK1 governs centrosome replication in pancreatic cancer via MYPT1/PP1beta and GSK3beta-dependent regulation of PLK4., [RefSeq, PubMed]; NUAK1 promotes metabolic dysfunction-associated steatohepatitis progression by activating Caspase 6-driven pyroptosis and inflammation. Publication Status: Online-Only, [RefSeq, PubMed]; Results report that a novel AMPK catalytic subunit family member, ARK5, plays a key role in tumor malignancy downstream of Akt., [RefSeq, PubMed]; Serine/threonine-protein kinase involved in various processes such as cell adhesion, regulation of cell ploidy and senescence, cell proliferation and tumor progression. Phosphorylates ATM, CASP6, LATS1, PPP1R12A and p53/TP53. Acts as a regulator of cellular senescence and cellular ploidy by mediating phosphorylation of 'Ser-464' of LATS1, thereby controlling its stability. Controls cell adhesion by regulating activity of the myosin protein phosphatase 1 (PP1) complex. Acts by mediating phosphorylation of PPP1R12A subunit of myosin PP1: phosphorylated PPP1R12A then interacts with 14-3-3, leading to reduced dephosphorylation of myosin MLC2 by myosin PP1. May be involved in DNA damage response: phosphorylates p53/TP53 at 'Ser-15' and 'Ser-392' and is recruited to the CDKN1A/WAF1 promoter to participate in transcription activation by p53/TP53. May also act as a tumor malignancy-associated factor by promoting tumor invasion and metastasis under regulation and phosphorylation by AKT1. Suppresses Fas-induced apoptosis by mediating phosphorylation of CASP6, thereby suppressing the activation of the caspase and the subsequent cleavage of CFLAR. Regulates UV radiation-induced DNA damage response mediated by CDKN1A. In association with STK11, phosphorylates CDKN1A in response to UV radiation and contributes to its degradation which is necessary for optimal DNA repair (PubMed:25329316)., [UniProtKB, 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": 12, "reported_mutagensis": 4, "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": "A7MD39;Q96KA8", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0002039 p53 binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0001650 fibrillar center", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0007155 cell adhesion;GO:0030155 regulation of cell adhesion;GO:0042127 regulation of cell population proliferation;GO:1901796 regulation of signal transduction by p53 class mediator", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "O60285-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NUN5-1", "uniprot_id": "LMBD1_HUMAN", "mass": 61389.0, "length": 540, "protein_name": "Lysosomal cobalamin transport escort protein LMBD1", "gene_name": "LMBRD1", "organism": "Human", "refseq_name": "lysosomal cobalamin transport escort protein LMBD1 isoform 1", "refseq_ac": "NP_060838", "gene_names_uniprotkb": "LMBRD1; BM-021; C6orf209; CD001; MSTP044; NESI", "gene_names_refseq": "C6orf209; LMBD1; LMBRD1; MAHCF; NESI", "protein_names_uniprotkb": "Lysosomal cobalamin transport escort protein LMBD1; HDAg-L-interacting protein NESI; LMBD1; LMBR1 domain-containing protein 1; Nuclear export signal-interacting protein", "protein_names_refseq": "HDAg-L-interacting protein NESI; hepatitis delta antigen-L interacting protein; liver regeneration p-53 related protein; lysosomal cobalamin transport escort protein LMBD1 isoform 1; lysosomal cobalamin transport escort protein LMBD1; nuclear export signal-interacting protein; probable lysosomal cobalamin transporter", "tax_id": 9606, "disease": "methylmalonic aciduria and homocystinuria type cblF (Disease Ontology:DOID:0050717)", "pathway": " (hsa:55788); (R-HSA-5683329); (R-HSA-9758881); (R-HSA-9758890)", "pathway_count": 4, "publication_count": 67, "publication_id_list": "10.1101/2023.09.13.557529;10080186;10887099;11237011;12590260;14528014;14576052;15652495;15956556;16537422;17954916;17990953;18452278;18691976;18779389;19136951;19413330;20068231;20237569;20524213;21511966;22547309;22631584;22900303;22922874;23836931;23846701;24190977;25535791;25880248;27411955;27456980;2777761;28228285;28514659;28572511;29242379;29557506;29741879;29769354;30523278;30777892;31092671;31154438;31844290;32157095;32350084;32502341;32938616;33392160;33845046;33912179;33936100;33968037;34087483;34357683;35251023;35580925;36010968;37074911;3782074;4001945;759210;7768901;8706697;8710919;915005", "class_list": "", "function": "(Microbial infection) May play a role in the assembly of hepatitis delta virus (HDV)., [UniProtKB, PubMed]; Data suggest that ABCD4 lysosomal targeting depends on co-expression of and interaction with LMBRD1; mutations in LMBRD1 and ABCD4 that result in cobalamin metabolism disorders cblF and cblJ (or mutations in ATPase domain) disrupt interactions between LMBRD1 and ABCD4. (LMBRD1 = nuclear export signal-interacting protein; ABCD4 = ATP-binding cassette, sub-family D (ALD), member 4), [RefSeq, PubMed]; Endogenous ABCD4 was localized to both lysosomes and the ER, and its lysosomal localization was disturbed by knockout of LMBRD1 Publication Status: Online-Only, [RefSeq, PubMed]; LMBRD1 is the gene underlying the cblF defect of cobalamin metabolism and suggests that LMBD1 is a lysosomal membrane exporter for cobalamin., [RefSeq, PubMed]; Lysosomal membrane chaperone required to export cobalamin (vitamin B12) from the lysosome to the cytosol, allowing its conversion to cofactors (PubMed:19136951). Targets ABCD4 transporter from the endoplasmic reticulum to the lysosome (PubMed:27456980). Then forms a complex with lysosomal ABCD4 and cytoplasmic MMACHC to transport cobalamin across the lysosomal membrane (PubMed:25535791). Acts as an adapter protein which plays an important role in mediating and regulating the internalization of the insulin receptor (INSR) (By similarity). Involved in clathrin-mediated endocytosis of INSR via its interaction with adapter protein complex 2 (By similarity). Essential for the initiation of gastrulation and early formation of mesoderm structures during embryogenesis (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Results propose a model whereby membrane-bound LMBD1 and ABCD4 facilitate the vectorial delivery of lysosomal vitamin B12 to cytoplasmic MMACHC., [RefSeq, PubMed]; This gene encodes a lysosomal membrane protein that may be involved in the transport and metabolism of cobalamin. This protein also interacts with the large form of the hepatitis delta antigen and may be required for the nucleocytoplasmic shuttling of the hepatitis delta virus. Mutations in this gene are associated with the vitamin B12 metabolism disorder termed, homocystinuria-megaloblastic anemia complementation type F.[provided by RefSeq, Oct 2009]., [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": 4, "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": 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": 3, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 8818, "biomarker_type": "", "glycan_count": 36, "disease_count": 1, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A8K204;E1P531;Q5VUN6;Q86Y70;Q96FW4;Q9BY56;Q9NZD6", "ec_number_list": "", "go_molecular_function": "GO:0005158 insulin receptor binding;GO:0035612 AP-2 adaptor complex binding;GO:0031419 cobalamin binding;GO:0032050 clathrin heavy chain binding;GO:0140318 protein transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005765 lysosomal membrane;GO:0005789 endoplasmic reticulum membrane;GO:0030136 clathrin-coated vesicle", "go_biological_process": "GO:0072583 clathrin-dependent endocytosis;GO:0007369 gastrulation;GO:0038016 insulin receptor internalization;GO:0061462 protein localization to lysosome", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "Q9NUN5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WX39-1", "uniprot_id": "LCN9_HUMAN", "mass": 20285.0, "length": 176, "protein_name": "Epididymal-specific lipocalin-9", "gene_name": "LCN9", "organism": "Human", "refseq_name": "epididymal-specific lipocalin-9 precursor", "refseq_ac": "NP_001380590", "gene_names_uniprotkb": "LCN9", "gene_names_refseq": "HEL129; LCN9", "protein_names_uniprotkb": "Epididymal-specific lipocalin-9; MUP-like lipocalin", "protein_names_refseq": "MUP-like lipocalin; epididymal-specific lipocalin-9 precursor; epididymal-specific lipocalin-9; epididymis luminal protein 129", "tax_id": 9606, "disease": "", "pathway": " (hsa:392399); (R-HSA-804914)", "pathway_count": 2, "publication_count": 13, "publication_id_list": "10518211;11237011;12235169;12556534;15363845;16504339;19946382;20124557;31844290;3453108;7684291;7918467;9878842", "class_list": "", "function": "Members of the lipocalin family, such as LCN9, have a common structure consisting of an 8-stranded antiparallel beta-barrel that forms a cup-shaped ligand-binding pocket or calyx. Lipocalins generally bind small hydrophobic ligands and transport them to specific cells (Suzuki et al., 2004 [PubMed 15363845]).[supplied by OMIM, Aug 2009]., [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": 0, "reported_glycation": 0, "reported_snv": 6, "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": "A0A087WZ21;C9J5F0;Q6JVE7", "ec_number_list": "", "go_molecular_function": "GO:0036094 small molecule binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q8WX39-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IV20-1", "uniprot_id": "LACC1_HUMAN", "mass": 47780.0, "length": 430, "protein_name": "Purine nucleoside phosphorylase LACC1", "gene_name": "LACC1", "organism": "Human", "refseq_name": "purine nucleoside phosphorylase LACC1 isoform 1", "refseq_ac": "NP_001121775", "gene_names_uniprotkb": "LACC1; C13orf31; FAMIN", "gene_names_refseq": "C13orf31; FAMIN; JUVAR; LACC1", "protein_names_uniprotkb": "Purine nucleoside phosphorylase LACC1; 2.4.2.1; 2.4.2.28; 3.5.4.4; 4.3.3.-; Adenosine deaminase LACC1; Fatty acid metabolism-immunity nexus; Guanosine phosphorylase LACC1; Isocyanic acid synthase; Laccase domain-containing protein 1; S-methyl-5'-thioadenosine phosphorylase LACC1", "protein_names_refseq": "S-methyl-5'-thioadenosine phosphorylase LACC1; adenosine deaminase LACC1; fatty acid metabolism-immunity nexus; guanosine phosphorylase LACC1; isocyanic acid synthase; laccase (multicopper oxidoreductase) domain containing 1; laccase domain-containing protein 1; purine nucleoside phosphorylase LACC1 isoform 1; purine nucleoside phosphorylase LACC1", "tax_id": 9606, "disease": "systemic juvenile rheumatoid arthritis (Disease Ontology:DOID:676); juvenile arthritis due to defect in LACC1 (MONDO:MONDO:0032920)", "pathway": " (hsa:144811)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "11237011;20018961;25220867;25367361;27478939;27846572;27881174;27920218;27959965;28593945;29393594;29717096;30379171;30872671;31811059;31844290;31875558;31978345;32387766;33606008;33912179;33968037;34185709;35051231;35179464;35580925;35978195;36284347;37366569;37921883", "class_list": "", "function": "Association between leprosy and tag SNPs at NOD2 (rs8057431) and CCDC122-LACC1 (rs4942254)., [RefSeq, PubMed]; LACC1 bridges NOS2 and polyamine metabolism in inflammatory macrophages. Erratum:[Nature. 2023 Jun;618(7965):E21. doi: 10.1038/s41586-023-06244-9. PMID: 37231312], [RefSeq, PubMed]; LACC1: A critical involvement in macrophage immunometabolism. Review article, [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Purine nucleoside enzyme that catalyzes the phosphorolysis of adenosine, guanosine and inosine nucleosides, yielding D-ribose 1-phosphate and the respective free bases, adenine, guanine and hypoxanthine (PubMed:31978345). Also catalyzes the phosphorolysis of S-methyl-5'-thioadenosine into adenine and S-methyl-5-thio-alpha-D-ribose 1-phosphate (PubMed:31978345). Also has adenosine deaminase activity (PubMed:31978345). Acts as a regulator of innate immunity in macrophages by modulating the purine nucleotide metabolism, thereby regulating the metabolic function and bioenergetic state of macrophages (PubMed:31978345). Enables a purine nucleotide cycle between adenosine and inosine monophosphate and adenylosuccinate that prevents cytoplasmic acidification and balances the cytoplasmic-mitochondrial redox interface (PubMed:31978345). The purine nucleotide cycle consumes aspartate and releases fumarate in a manner involving fatty acid oxidation and ATP-citrate lyase activity (PubMed:31978345). Participates in pattern recognition receptor (PRR)-induced cytokines in macrophages: associates with the NOD2-signaling complex and promotes optimal NOD2-induced signaling, cytokine secretion and bacterial clearance (PubMed:28593945, PubMed:31875558). Localizes to the endoplasmic reticulum upon PRR stimulation of macrophages and associates with endoplasmic reticulum-stress sensors, promoting the endoplasmic reticulum unfolded protein response (UPR) (PubMed:31875558). Component of L-arginine metabolism in activated macrophages supporting anti-inflammatory and antibacterial macrophage effector functions. Cleaves L-citrulline, a product of L-arginine metabolized via NOS2, to yield isocyanate, a reactive carbonyl species-like cytotoxin, and L-ornithine, a precursor in polyamine biosynthesis. Through L-ornithine controls cellular polyamine pools likely triggering polyamine-mediated proinflammatory cytokine suppression and autophagy stimulation (PubMed:35978195). Directly interacts with components of autophagy machinery to regulate macrophage metabolism and bacterial phagocytosis. Acts downstream of the energy sensor AMP-activated protein kinase (AMPK) to promote autophagy associated to lipid droplets generation providing fatty acids for mitochondrial respiration (PubMed:33606008). Does not show laccase activity (PubMed:27959965, PubMed:31978345)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; There is an association of a mutation in LACC1 with a monogenic form of systemic juvenile idiopathic arthritis., [RefSeq, PubMed]; This gene encodes an oxidoreductase that promotes fatty-acid oxidation, with concomitant inflammasome activation, mitochondrial and NADPH-oxidase-dependent reactive oxygen species production, and bactericidal activity of macrophages. The encoded protein forms a complex with fatty acid synthase on peroxisomes and is thought to be modulated by peroxisome proliferator-activated receptor signaling events. Naturally occurring mutations in this gene are associated with inflammatory bowel disease, Behcet's disease, leprosy, ulcerative colitis, early-onset Crohn's disease, and systemic juvenile idiopathic arthritis. [provided by RefSeq, Apr 2017]., [RefSeq]; [Macrophage involvement in juvenile arthritis onset: LACC1 bridges the gap?]', trans 'Role des macrophages dans le developpement de l'arthrite juvenile - LACC1 fait-il le lien ?, [RefSeq, PubMed]; [Monogenic variants in Laccase domain-containing 1 (LACC1) as the cause of juvenile arthritis]. 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": 5, "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": "A2A3Z6;Q8N8X5", "ec_number_list": "2.4.2.1;3.5.4.4;2.4.2.28;4.3.3.-", "go_molecular_function": "GO:0004000 adenosine deaminase activity;GO:0005507 copper ion binding;GO:0016829 lyase activity;GO:0004731 purine-nucleoside phosphorylase activity;GO:0017061 S-methyl-5-thioadenosine phosphorylase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005777 peroxisome;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0070431 nucleotide-binding oligomerization domain containing 2 signaling pathway;GO:0002221 pattern recognition receptor signaling pathway;GO:0006954 inflammatory response;GO:0045087 innate immune response;GO:0050727 regulation of inflammatory response", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q8IV20-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96H86-1", "uniprot_id": "ZN764_HUMAN", "mass": 44943.0, "length": 408, "protein_name": "Zinc finger protein 764", "gene_name": "ZNF764", "organism": "Human", "refseq_name": "zinc finger protein 764 isoform 2", "refseq_ac": "NP_001166150", "gene_names_uniprotkb": "ZNF764", "gene_names_refseq": "ZNF764", "protein_names_uniprotkb": "Zinc finger protein 764", "protein_names_refseq": "zinc finger protein 764 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:92595); (R-HSA-212436)", "pathway_count": 2, "publication_count": 25, "publication_id_list": "10235266;10330177;11395415;14519192;15175151;15896744;16606702;16719718;2163759;22577170;24715725;27846572;28139699;29493099;29557506;29731959;29789417;31844290;33298915;33633747;33968037;8183939;8769649;9637681;9653119", "class_list": "", "function": "Effect of ZNF764 on the glucocorticoid receptor transcriptional activity was mediated through cooperation with a general nuclear hormone receptor coactivator, transcriptional intermediary factor 1, [RefSeq, PubMed]; Zinc finger protein that functions as a cofactor for steroid hormone receptors, such as NR3C1/GR (PubMed:28139699). Directs NR3C1/GR transcriptional activity toward specific biologic pathways by changing NR3C1/GR binding and transcriptional activity on the glucocorticoid-responsive genes (PubMed:28139699)., [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": 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": "A8MZF4;B3KSN2;H9KV99;Q9BWS1", "ec_number_list": "", "go_molecular_function": "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:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0071385 cellular response to glucocorticoid stimulus", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q96H86-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZN16-1", "uniprot_id": "M3K15_HUMAN", "mass": 147437.0, "length": 1313, "protein_name": "Mitogen-activated protein kinase kinase kinase 15", "gene_name": "MAP3K15", "organism": "Human", "refseq_name": "mitogen-activated protein kinase kinase kinase 15", "refseq_ac": "NP_001001671", "gene_names_uniprotkb": "MAP3K15; ASK3", "gene_names_refseq": "ASK3; MAP3K15; bA723P2.3", "protein_names_uniprotkb": "Mitogen-activated protein kinase kinase kinase 15; 2.7.11.25; Apoptosis signal-regulating kinase 3; MAPK/ERK kinase kinase 15; MEK kinase 15; MEKK 15", "protein_names_refseq": "MAPK/ERK kinase kinase 15; MEK kinase 15; MEKK 15; apoptosis signal-regulating kinase 3; mitogen-activated protein kinase kinase kinase 15", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574); amphetamine abuse (Disease Ontology:DOID:670)", "pathway": " (hsa:389840)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;17344846;20362554;23186163;26154972;26732173;26992070;28228285;29539411;31844290;32156783;32357974;33592498;33649309;33936100;34171305;34185709;35051231;35494241;36010968;36383675;37217939", "class_list": "", "function": "'ASK3 gene' is a novel member of apoptosis signal-regulating kinases and that it plays a pivotal role in the signal transduction pathway implicated in apoptotic cell death triggered by cellular stresses., [RefSeq, PubMed]; ASK3 controls both RVD and RVI under osmotic stress., [RefSeq, PubMed]; Human genetics uncovers MAP3K15 as an obesity-independent therapeutic target for diabetes., [RefSeq, PubMed]; Macromolecular crowding induces liquid-demixing condensates of ASK3 under hyperosmotic stress, which transduce osmosensing signal into ASK3 inactivation. Publication Status: Online-Only, [RefSeq, PubMed]; Serine/threonine kinase which acts as a component of the MAP kinase signal transduction pathway (PubMed:20362554, PubMed:26732173). Once activated, acts as an upstream activator of the p38 MAPK signal transduction cascade through the phosphorylation and activation of several MAP kinase kinases (PubMed:20362554, PubMed:26732173). May function in a signal transduction pathway that is activated by various cell stresses and leads to apoptosis (PubMed:20362554). Involved in phosphorylation of WNK4 in response to osmotic stress or hypotonic low-chloride stimulation via the p38 MAPK signal transduction cascade (PubMed:26732173)., [UniProtKB, PubMed, PubMed]; Structure-based mechanism of preferential complex formation by apoptosis signal-regulating kinases. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the mitogen-activated protein kinase (MAPK) family. These family members function in a protein kinase signal transduction cascade, where an activated MAPK kinase kinase (MAP3K) phosphorylates and activates a specific MAPK kinase (MAP2K), which then activates a specific MAPK. This MAP3K protein plays an essential role in apoptotic cell death triggered by cellular stresses. [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": 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": 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": "A2AI49;A2AI50;A6NJ61;Q5JPR4;Q6ZMV3", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0004709 MAP kinase kinase kinase activity;GO:0106310 protein serine kinase activity;GO:0004674 protein serine/threonine kinase activity", "go_cellular_component": "", "go_biological_process": "GO:0007254 JNK cascade;GO:0038066 p38MAPK cascade", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q6ZN16-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60449-1", "uniprot_id": "LY75_HUMAN", "mass": 198311.0, "length": 1722, "protein_name": "Lymphocyte antigen 75", "gene_name": "LY75", "organism": "Human", "refseq_name": "LY75-CD302 fusion protein isoform 1 precursor", "refseq_ac": "NP_001185688", "gene_names_uniprotkb": "LY75; CD205; CLEC13B", "gene_names_refseq": "LY75-CD302; gp200-MR6", "protein_names_uniprotkb": "Lymphocyte antigen 75; C-type lectin domain family 13 member B; DEC-205; Ly-75; gp200-MR6", "protein_names_refseq": "DEC-205/DCL-1 fusion; LY75-CD302 fusion protein isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:100526664); (hsa:4065)", "pathway_count": 2, "publication_count": 89, "publication_id_list": "11466336;12824192;14978097;18669648;18991276;19706888;23090970;23481700;24029068;24190977;24714562;24715725;25418920;25502872;25576301;25880248;25892735;26375851;26758079;26811146;26992070;27846572;27862975;27920218;28218747;28228285;28467828;28514659;28649982;28832583;28834231;28855257;28904123;29242379;29314611;29317506;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29741879;29769354;29786170;29789417;30315122;30410026;30429286;30573663;31092671;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32265295;32350084;32357974;32387766;32502341;32897882;32983136;33043033;33141586;33298915;33392160;33633747;33717175;33912179;33936100;33968037;34211107;34357683;34433824;34509645;34561969;34932366;35051231;35154160;35580925;36284347;36581221;9553150;9862343", "class_list": "glycogene", "function": "Acts as an endocytic receptor to direct captured antigens from the extracellular space to a specialized antigen-processing compartment (By similarity). Causes reduced proliferation of B-lymphocytes., [UniProtKB]; This locus represents naturally occurring read-through transcription between the neighboring lymphocyte antigen 75 (LY75) and CD302 molecule (CD302) genes. Alternative splicing results in multiple transcript variants encoding fusion products that share sequence identity with each individual gene product. [provided by RefSeq, Nov 2010]., [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": 17, "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": 17, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 17, "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": 2126, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 22, "binding_glycan_count": 0, "secondary_ac_list": "O75913;Q53R46;Q53TF5;Q7Z575;Q7Z577", "ec_number_list": "", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0030246 carbohydrate binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0006954 inflammatory response;GO:0006955 immune response;GO:0006898 receptor-mediated endocytosis", "synthesized_glycan_count": 0, "hit_score": 11.0, "record_id": "O60449-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BXK1-1", "uniprot_id": "KLF16_HUMAN", "mass": 25431.0, "length": 252, "protein_name": "Krueppel-like factor 16", "gene_name": "KLF16", "organism": "Human", "refseq_name": "Krueppel-like factor 16", "refseq_ac": "NP_114124", "gene_names_uniprotkb": "KLF16; BTEB4; NSLP2", "gene_names_refseq": "BTEB4; DRRF; KLF16; NSLP2", "protein_names_uniprotkb": "Krueppel-like factor 16; BTE-binding protein 4; Basic transcription element-binding protein 4; Novel Sp1-like zinc finger transcription factor 2; Transcription factor BTEB4; Transcription factor NSLP2", "protein_names_refseq": "BTE-binding protein 4; Krueppel-like factor 16; Kruppel like factor 16; basic transcription element binding protein 4; dopamine receptor regulating factor; novel Sp1-like zinc finger transcription factor 2; transcription factor BTEB4; transcription factor NSLP2; unknown transcript", "tax_id": 9606, "disease": "", "pathway": " (hsa:83855); (R-HSA-9839394)", "pathway_count": 2, "publication_count": 37, "publication_id_list": "11237011;12036432;15937668;18220336;18299279;18669648;19413330;19690332;20068231;22203677;23186163;26992070;28832583;28904123;29242379;29557506;29632046;30429286;30467960;30833945;31154438;31217245;31409900;31844290;31848261;32157095;32387766;34561969;34779529;35524408;35796007;36072902;36581221;36639679;37222488;37938771;38665916", "class_list": "", "function": "CircFOXO3 Induced by KLF16 Modulates Clear Cell Renal Cell Carcinoma Growth and Natural Killer Cell Cytotoxic Activity through Sponging miR-29a-3p and miR-122-5p. Publication Status: Online-Only, [RefSeq, PubMed]; KLF16 enhances stress tolerance of colorectal carcinomas by modulating nucleolar homeostasis and translational reprogramming., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Protein analysis of BTEB3 and BTEB4 and their binding to CYP1A1, [RefSeq, PubMed]; SF3B4 promotes Twist1 expression and clear cell renal cell carcinoma progression by facilitating the export of KLF 16 mRNA from the nucleus to the cytoplasm. Publication Status: Online-Only, [RefSeq, PubMed]; Silencing KLF16 inhibits oral squamous cell carcinoma cell proliferation by arresting the cell cycle and inducing apoptosis., [RefSeq, PubMed]; Transcription factor KLF16 activates MAGT1 to regulate the tumorigenesis and progression of breast cancer., [RefSeq, PubMed]; Transcription factor that binds GC and GT boxes and displaces Sp1 and Sp3 from these sequences. Modulates dopaminergic transmission in the brain (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": 9, "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": "", "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: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", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q9BXK1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WZ60-1", "uniprot_id": "KLHL6_HUMAN", "mass": 70359.0, "length": 621, "protein_name": "Kelch-like protein 6", "gene_name": "KLHL6", "organism": "Human", "refseq_name": "kelch-like protein 6", "refseq_ac": "NP_569713", "gene_names_uniprotkb": "KLHL6", "gene_names_refseq": "KLHL6", "protein_names_uniprotkb": "Kelch-like protein 6", "protein_names_refseq": "kelch-like protein 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:89857)", "pathway_count": 1, "publication_count": 53, "publication_id_list": "11237011;12617994;23481700;24715725;25418920;25576301;25892735;26154972;26375851;26992070;27846572;27862975;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29695787;29786170;30315122;30524438;31154438;31844290;32157095;32357974;32387766;32502341;32897882;32983136;33141586;33392160;33691108;33912179;33936100;34185709;34211107;34357683;34932366;35051231;35318648;35494241;35561310;35580925;36284347;38630892;41535474", "class_list": "", "function": "Characterization of two genes expressed in centroblasts of human tonsils: deltex (Drosophila) homolog 1 (DTX1), which is related to the Notch pathway and a new Kelch-like protein, KLHL6, [RefSeq, PubMed]; Involved in B-lymphocyte antigen receptor signaling and germinal center formation., [UniProtKB, UniProtKB]; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a multifunctional regulator of B-cell receptor (BCR) signaling, germinal center formation, and T-cell function. Functions by mediating polyubiquitination of target proteins, leading to their proteasomal degradation. In B-cells, plays an essential role in BCR signaling and germinal center B-cell maturation. Targets the BCR signaling subunits CD79A and CD79B for ubiquitin-mediated degradation, thereby controlling surface BCR homeostasis (PubMed:38630892). Mediates polyubiquitination and degradation of the mRNA decay factor roquin-2/RC3H2, which in turn allows accumulation of TNFAIP3, a negative regulator of NF-kappa-B signaling, thereby providing feedback inhibition of BCR-induced NF-kappa-B activation (PubMed:29695787). In T-cells, acts as a dual negative regulator of T-cell exhaustion and mitochondrial dysfunction. Promotes 'Lys-48'-linked polyubiquitination and proteasomal degradation of the transcription factor TOX, thereby attenuating the transition of progenitor exhausted T-cells towards terminal exhaustion (PubMed:41535474). Also targets the mitochondrial phosphatase PGAM5 for degradation, thereby preventing excessive PGAM5-mediated dephosphorylation and activation of DRP1, which would otherwise drive pathological mitochondrial fission (PubMed:41535474). Through these mechanisms, maintains mitochondrial fitness in T-cells during chronic antigen stimulation., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a member of the kelch-like (KLHL) family of proteins, which is involved in B-lymphocyte antigen receptor signaling and germinal-center B-cell maturation. The encoded protein contains an N-terminal broad-complex, tramtrack and bric a brac (BTB) domain that facilitates protein binding and dimerization, a BTB and C-terminal kelch (BACK) domain, and six C-terminal kelch repeat domains. Naturally occurring mutations in this gene are associated with chronic lymphocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 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": 2, "reported_glycation": 0, "reported_snv": 22, "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": "B2RB31;D3DNS8;Q8N5I1;Q8N892", "ec_number_list": "", "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0031463 Cul3-RING ubiquitin ligase complex", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0050853 B cell receptor signaling pathway;GO:0002467 germinal center formation", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q8WZ60-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NEE0-1", "uniprot_id": "KLAS1_HUMAN", "mass": 9662.0, "length": 82, "protein_name": "Putative uncharacterized protein KLHL30-AS1", "gene_name": "KLHL30-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "KLHL30-AS1; C2orf19", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein KLHL30-AS1; KLHL30 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": "Q8NEE0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99612-1", "uniprot_id": "KLF6_HUMAN", "mass": 31865.0, "length": 283, "protein_name": "Krueppel-like factor 6", "gene_name": "KLF6", "organism": "Human", "refseq_name": "Krueppel-like factor 6 isoform B", "refseq_ac": "NP_001153596", "gene_names_uniprotkb": "KLF6; BCD1; COPEB; CPBP; ST12", "gene_names_refseq": "BCD1; CBA1; COPEB; CPBP; GBF; KLF6; PAC1; ST12; ZF9", "protein_names_uniprotkb": "Krueppel-like factor 6; B-cell-derived protein 1; Core promoter element-binding protein; GC-rich sites-binding factor GBF; Proto-oncogene BCD1; Suppressor of tumorigenicity 12 protein; Transcription factor Zf9", "protein_names_refseq": "B-cell-derived protein 1; GC-rich binding factor; GC-rich sites-binding factor GBF; Krueppel-like factor 6 isoform B; Kruppel like factor 6; Kruppel-like zinc finger protein Zf9; core promoter element binding protein; krueppel-like factor 6; proto-oncogene BCD1; protooncogene B-cell derived 1; suppression of tumorigenicity 12 (prostate); suppressor of tumorigenicity 12 protein; transcription factor Zf9", "tax_id": 9606, "disease": "COVID-19 (Disease Ontology:DOID:0080600); prostate cancer (Disease Ontology:DOID:10283); stomach cancer (Disease Ontology:DOID:10534)", "pathway": " (hsa:1316)", "pathway_count": 1, "publication_count": 52, "publication_id_list": "11752579;12508640;15735005;15824733;24714562;24715725;25505266;25645385;26375851;26728094;27862975;28218747;28832583;28904123;29242379;29393594;29437277;29508533;29557506;29786170;30315122;30379171;30410026;30429286;31375868;31844290;32157095;32350084;32357974;32502341;32938616;32983136;33227311;33592498;33717175;33968037;33981976;34087483;34171305;35051231;35580925;36284347;37938771;38159857;38516774;38662610;38761988;38886911;9000136;9083102;9685731;9689109", "class_list": "", "function": "Decreased expression of KLF6 in ectopic endometrial stromal cells contributes to endometriosis progression by targeting CTNNB1. Erratum:[Cell Signal. 2026 Jan 30:112388. doi: 10.1016/j.cellsig.2026.112388. PMID: 41620324], [RefSeq, PubMed]; GSE1 promotes the proliferation and migration of lung adenocarcinoma cells by downregulating KLF6 expression., [RefSeq, PubMed]; KLF6 activates Sp1-mediated prolidase transcription during TGF-beta1 signaling. Erratum:[J Biol Chem. 2025 Mar;301(3):108214. doi: 10.1016/j.jbc.2025.108214. PMID: 39952079], [RefSeq, PubMed]; MiRNA-21 promotes the progression of acute liver failure via the KLF6/autophagy/IL-23 signaling pathway., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a member of the Kruppel-like family of transcription factors. The zinc finger protein is a transcriptional activator, and functions as a tumor suppressor. Multiple transcript variants encoding different isoforms have been found for this gene, some of which are implicated in carcinogenesis. [provided by RefSeq, May 2009]., [RefSeq]; Transcriptional activator (By similarity). Binds a GC box motif. Could play a role in B-cell growth and development., [UniProtKB]; WTAP-MEDIATED M6A MODIFICATION OF KLF6 AGGRAVATES HYPOXIA/REOXYGENATION-INDUCED HUMAN CARDIOMYOCYTE INJURY., [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": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RE86;B4DDN0;D3DRR1;F5H3M5;Q5VUT7;Q5VUT8;Q9BT79", "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: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:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0001650 fibrillar center;GO:0000785 chromatin", "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:0045893 positive regulation of DNA-templated transcription;GO:0030183 B cell differentiation", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q99612-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BYP8-1", "uniprot_id": "KR171_HUMAN", "mass": 9504.0, "length": 105, "protein_name": "Keratin-associated protein 17-1", "gene_name": "KRTAP17-1", "organism": "Human", "refseq_name": "keratin-associated protein 17-1", "refseq_ac": "NP_114170", "gene_names_uniprotkb": "KRTAP17-1; KAP17.1; KRTAP16.1", "gene_names_refseq": "KAP17.1; KRTAP16.1; KRTAP17-1; KRTAP17.1", "protein_names_uniprotkb": "Keratin-associated protein 17-1; Keratin-associated protein 16.1", "protein_names_refseq": "keratin associated protein 16.1; keratin-associated protein 17-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:83902); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 12, "publication_id_list": "11279113;15373777;16382671;1691188;1694855;1714783;17521629;18347808;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]; Recurrent mutation in a large family with pachyonychia congenita type 2, [RefSeq, PubMed]; 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, 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": 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:0005882 intermediate filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9BYP8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NSB2-1", "uniprot_id": "KRT84_HUMAN", "mass": 64842.0, "length": 600, "protein_name": "Keratin, type II cuticular Hb4", "gene_name": "KRT84", "organism": "Human", "refseq_name": "keratin, type II cuticular Hb4", "refseq_ac": "NP_149034", "gene_names_uniprotkb": "KRT84; KRTHB4", "gene_names_refseq": "HB4; KRT84; KRTHB4", "protein_names_uniprotkb": "Keratin, type II cuticular Hb4; K84; Keratin-84; Type II hair keratin Hb4; Type-II keratin Kb24; hHb4", "protein_names_refseq": "K84; hard keratin, type II, 4; keratin 84, type II; keratin, hair, basic, 4; keratin, type II cuticular Hb4; type II hair keratin 4; type II hair keratin Hb4; type-II keratin Kb24", "tax_id": 9606, "disease": "", "pathway": " (hsa:3890); (R-HSA-6805567); (R-HSA-6809371)", "pathway_count": 3, "publication_count": 61, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10692104;10771479;11350120;11380615;11445569;11590230;12902340;15033990;15337775;15373777;15737194;15797384;15803139;16061697;16382671;16639001;1691188;1694855;1714783;17515931;17521629;17562024;17596512;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23481192;23629652;2414304;25208914;25926655;26390218;29557506;31611695;31844290;32181476;32488085;33141586;34019948;34357683;35051231;37217939;38665916;7543090;8824274;8999895;9395522;9468612;9565599", "class_list": "", "function": "KRT84 is a potential tumor suppressor and good prognosis signature of oral squamous cell carcinoma., [RefSeq, PubMed]; Structural component of intermediate filaments in keratinizing epithelia (PubMed:11445569). As a type II hair keratin, forms obligate heterodimers with type I keratins to assemble keratin intermediate filaments (By similarity). Expressed predominantly in the posterior compartment of the filiform papillae of the tongue, where it contributes to the structural integrity and mechanical resilience of specialized keratinized epithelial cells (Probable)., [UniProtKB, PubMed, UniProtKB]; The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin is contained primarily in the filiform tongue papilla, among other hair keratins. [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "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": "B2RA43;Q6ISB0;Q701L6", "ec_number_list": "", "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0030280 structural constituent of skin epidermis", "go_cellular_component": "GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:0045095 keratin filament", "go_biological_process": "GO:0031424 keratinization;GO:0035878 nail development;GO:0001942 hair follicle development;GO:0045109 intermediate filament organization;GO:0045616 regulation of keratinocyte differentiation", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q9NSB2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P0G3-1", "uniprot_id": "KLK14_HUMAN", "mass": 27453.0, "length": 251, "protein_name": "Kallikrein-14", "gene_name": "KLK14", "organism": "Human", "refseq_name": "kallikrein-14 preproprotein", "refseq_ac": "NP_001298111", "gene_names_uniprotkb": "KLK14; KLKL6", "gene_names_refseq": "KLK-L6; KLK14", "protein_names_uniprotkb": "Kallikrein-14; 3.4.21.-; KLK-L6; Kallikrein-like protein 6; hK14", "protein_names_refseq": "kallikrein-14 preproprotein; kallikrein-14; kallikrein-like protein 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:43847); (R-HSA-6809371)", "pathway_count": 2, "publication_count": 59, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;10969073;11309303;11350120;11352573;11380615;11590230;12439719;12645335;12858357;12902340;15033990;15337775;15654974;15797384;15803139;15843175;16061697;16456535;16639001;16800737;16885167;17110383;17158887;17515931;17562024;17596512;17625593;17922479;18056261;18482984;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23629652;25926655;26390218;28224083;29546479;31630475;32169475;32575583;7543090;8824274;8999895;9395522;9565599", "class_list": "", "function": "KLK14 expression upregulated in advanced and more aggressive prostate tumors; may play role in tumor spread and may be new marker for prostate cancer diagnosis and prognosis, [RefSeq, PubMed]; KLK14 overexpression was found to be a significant predictor of decreased disease-free survival and overall survival in breast cancer patients, [RefSeq, PubMed]; Kallikrein-Related Peptidase 14 Activates Zymogens of Membrane Type Matrix Metalloproteinases (MT-MMPs)-A CleavEx Based Analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Serine-type endopeptidase with a dual trypsin-like and chymotrypsin-like substrate specificity. May activate/inactivate the proteinase-activated receptors F2R, F2RL1 and F2RL3 and other kallikreins including KLK1, KLK3, KLK5 and KLK11. May function in seminal clot liquefaction through direct cleavage of the semenogelin SEMG1 and SEMG2 and activation of KLK3. May function through desmoglein DSG1 cleavage in epidermal desquamation a process by which the most superficial corneocytes are shed from the skin surface. May be involved in several aspects of tumor progression including growth, invasion and angiogenesis., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The majority of KLK14 in the plantar stratum corneum is present in its catalytically active form. KLK14 could be immunohistochemically detected in sweat ducts, preferentially in the intraepidermal parts (the acrosyringium), and in sweat glands., [RefSeq, PubMed]; The molecular function of kallikrein-related peptidase 14 demonstrates a key modulatory role in advanced prostate cancer., [RefSeq, PubMed]; There was no significant association of KLK13 and KLK14 mRNA expression with the clinical factors ascitic fluid volume or residual tumor mass. High KLK14 mRNA levels were significantly associated with prolonged PFS (HR = 0.44, P = 0.017) and showed a trend towards significance for OS (HR = 0.55, P = 0.070)., [RefSeq, PubMed]; This gene encodes a member of the kallikrein subfamily of serine proteases that have diverse physiological functions such as regulation of blood pressure and desquamation. The altered expression of this gene is implicated in the progression of different cancers including breast and prostate tumors. The encoded protein is a precursor that is proteolytically processed to generate the functional enzyme. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]., [RefSeq]; Transgenic Kallikrein 14 Mice Display Major Hair Shaft Defects Associated with Desmoglein 3 and 4 Degradation, Abnormal Epidermal Differentiation, and IL-36 Signature., [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": 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": "A0A1R3UHJ7;A7UNK5;Q1RMZ2;Q6B089", "ec_number_list": "3.4.21.-", "go_molecular_function": "GO:0004252 serine-type endopeptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0030141 secretory granule", "go_biological_process": "GO:0006508 proteolysis;GO:0009566 fertilization;GO:0045745 positive regulation of G protein-coupled receptor signaling pathway;GO:0045744 negative regulation of G protein-coupled receptor signaling pathway;GO:0051604 protein maturation", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q9P0G3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P2G9-1", "uniprot_id": "KLHL8_HUMAN", "mass": 68802.0, "length": 620, "protein_name": "Kelch-like protein 8", "gene_name": "KLHL8", "organism": "Human", "refseq_name": "kelch-like protein 8 isoform 1", "refseq_ac": "NP_001278932", "gene_names_uniprotkb": "KLHL8; KIAA1378", "gene_names_refseq": "KLHL8", "protein_names_uniprotkb": "Kelch-like protein 8", "protein_names_refseq": "kelch-like 8; kelch-like protein 8 isoform 1; kelch-like protein 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:57563)", "pathway_count": 1, "publication_count": 55, "publication_id_list": "11237011;19158078;20800603;24715725;25576301;25880248;26154972;26992070;27846572;28228285;28411811;28832583;28834231;28904123;29242379;29437277;29557506;29632711;30315122;30429286;30484775;30779550;30833945;31154438;31844290;31848261;31937595;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33392160;33537174;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34509645;34932366;35051231;35580925;36010968;36215666;36241641", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex required for The BCR(KLHL8) ubiquitin ligase complex mediates ubiquitination and degradation of RAPSN., [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": 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": "Q53XA3;Q6N018", "ec_number_list": "", "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0031463 Cul3-RING ubiquitin ligase complex", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q9P2G9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P2J3-1", "uniprot_id": "KLHL9_HUMAN", "mass": 69429.0, "length": 617, "protein_name": "Kelch-like protein 9", "gene_name": "KLHL9", "organism": "Human", "refseq_name": "kelch-like protein 9", "refseq_ac": "NP_061335", "gene_names_uniprotkb": "KLHL9; KIAA1354", "gene_names_refseq": "KLHL9", "protein_names_uniprotkb": "Kelch-like protein 9", "protein_names_refseq": "kelch-like protein 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:55958); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 190, "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;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;17543862;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;19995937;20554658;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22959436;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24715725;24793695;24793696;25314029;25349211;25355947;25418920;25531226;25645385;25880248;26154972;26344709;26460955;26632597;26906416;27030794;27222660;27565346;27846572;27862975;27920218;28115426;28218747;28832583;28834231;28904123;29153394;29242379;29393594;29437277;29493099;29557506;29632711;30315122;30379171;30410026;30429286;30610225;30833945;31092671;31154438;31222486;31844290;31848261;32005965;32157095;32265295;32284348;32350084;32357974;32387766;32897882;32938616;32983136;33141586;33298915;33444648;33592498;33691108;33717175;33912179;33936100;33981976;34087483;34171305;34185709;34211107;34357683;34405274;34509645;34561969;34932366;35051231;35580925;36010968;36215666;36241641;36284347;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "A unique form of early onset autosomal dominant distal myopathy is associated with a kelch-like homologue 9 mutation and interferes with normal skeletal muscle through a novel pathogenetic mechanism. Erratum:[Brain. 2020 Jun 1;143(6):e52. doi: 10.1093/brain/awaa065. PMID: 32163547], [RefSeq, PubMed]; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for mitotic progression and cytokinesis. The BCR(KLHL9-KLHL13) E3 ubiquitin ligase complex mediates the ubiquitination of AURKB and controls the dynamic behavior of AURKB on mitotic chromosomes and thereby coordinates faithful mitotic progression and completion of cytokinesis., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a protein that belongs to the kelch repeat-containing family, and contains an N-terminal BTB/POZ domain, a BACK domain and six C-terminal kelch repeats. The encoded protein is a component of a complex with cullin 3-based E3 ligase, which plays a role in mitosis. This protein complex is a cell cycle regulator, and functions in the organization and integrity of the spindle midzone in anaphase and the completion of cytokinesis. The complex is required for the removal of the chromosomal passenger protein aurora B from mitotic chromosomes. [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": 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": "Q8TCQ2", "ec_number_list": "", "go_molecular_function": "GO:0097602 cullin family protein binding;GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0030496 midbody;GO:0031463 Cul3-RING ubiquitin ligase complex", "go_biological_process": "GO:0051301 cell division;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination;GO:0032465 regulation of cytokinesis", "synthesized_glycan_count": 0, "hit_score": 19.3, "record_id": "Q9P2J3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UEF7-1", "uniprot_id": "KLOT_HUMAN", "mass": 116181.0, "length": 1012, "protein_name": "Klotho", "gene_name": "KL", "organism": "Human", "refseq_name": "klotho precursor", "refseq_ac": "NP_004786", "gene_names_uniprotkb": "KL", "gene_names_refseq": "HFTC3; KLA; KL", "protein_names_uniprotkb": "Klotho; 3.2.1.31", "protein_names_refseq": "alpha-klotho; beta-glucuronidase; klotho precursor", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); hyperphosphatemic familial tumoral calcinosis (Disease Ontology:DOID:0111063); retinitis pigmentosa (Disease Ontology:DOID:10584); kidney failure (Disease Ontology:DOID:1074); hypertension (Disease Ontology:DOID:10763); familial hyperlipidemia (Disease Ontology:DOID:1168); secondary hyperparathyroidism (Disease Ontology:DOID:12466); spondylosis (Disease Ontology:DOID:2247); coronary artery disease (Disease Ontology:DOID:3393); intracranial embolism (Disease Ontology:DOID:4372); kidney disease (Disease Ontology:DOID:557); end stage renal disease (Disease Ontology:DOID:783); chronic kidney disease (Disease Ontology:DOID:784); type 2 diabetes mellitus (Disease Ontology:DOID:9352); pulmonary emphysema (Disease Ontology:DOID:9675); tumoral calcinosis, hyperphosphatemic, familial, 3 (MONDO:MONDO:0060715)", "pathway": " (hsa:9365)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "10631108;11043382;11162628;11792841;12669274;15135068;15677572;16959974;17322306;17710231;25892735;26375851;29557506;29741879;30459171;31844290;32157095;32350084;32357974;32502341;33912179;35051231;37074911;39125677;39198803;39199335;39272986;39334012;9363890;9464267", "class_list": "glycogene;glycosylhydrolase", "function": "Abnormal Histopathological Expression of Klotho, Ferroptosis, and Circadian Clock Regulators in Pancreatic Ductal Adenocarcinoma: Prognostic Implications and Correlation Analyses. Publication Status: Online-Only, [RefSeq, PubMed]; Anti-Inflammatory Role of the Klotho Protein and Relevance to Aging. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Apolipoproteine and KLOTHO Gene Variants Do Not Affect the Penetrance of Fragile X-Associated Tremor/Ataxia Syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Exhibits beta-glucuronidase activity in vitro despite lacking canonical catalytic Glu residues of glycosyl hydrolase 1 family enzymes (By similarity). Hydrolyzes steroid beta-D-glucuronides including estradiol-3-beta-D-glucuronide, estrone-3-beta-D-glucuronide and estriol-3-beta-D-glucuronide (By similarity). Essential for the interaction between FGF23 and FGFR1 and for FGF23-mediated regulation of renal vitamin D and phosphate homeostasis (By similarity)., [UniProtKB, UniProtKB]; Gender-specific association between circulating serum Klotho and metabolic components in adults. Publication Status: Online-Only, [RefSeq, PubMed]; The Klotho peptide generated by cleavage of the membrane-bound isoform may be an anti-aging circulating hormone which would extend life span by inhibiting insulin/IGF1 signaling., [UniProtKB, UniProtKB]; The association between serum soluble alpha-Klotho and thyroid profile among adults from NHANES 2007-2012. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a type-I membrane protein that is related to beta-glucosidases. Reduced production of this protein has been observed in patients with chronic renal failure (CRF), and this may be one of the factors underlying the degenerative processes (e.g., arteriosclerosis, osteoporosis, and skin atrophy) seen in CRF. Also, mutations within this protein have been associated with ageing and bone loss. [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": 7, "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": 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": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1335, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 7, "disease_count": 16, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "Q5VZ95;Q96KV5;Q96KW5;Q9UEI9;Q9Y4F0", "ec_number_list": "3.2.1.31", "go_molecular_function": "GO:0008422 beta-glucosidase activity;GO:0005179 hormone activity;GO:0017134 fibroblast growth factor binding;GO:0005499 vitamin D binding;GO:0004566 beta-glucuronidase activity", "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:0005975 carbohydrate metabolic process;GO:0014823 response to activity;GO:0030501 positive regulation of bone mineralization;GO:0003085 negative regulation of systemic arterial blood pressure;GO:0033280 response to vitamin D", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q9UEF7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UK32-1", "uniprot_id": "KS6A6_HUMAN", "mass": 83872.0, "length": 745, "protein_name": "Ribosomal protein S6 kinase alpha-6", "gene_name": "RPS6KA6", "organism": "Human", "refseq_name": "ribosomal protein S6 kinase alpha-6 isoform 1", "refseq_ac": "NP_001317441", "gene_names_uniprotkb": "RPS6KA6; RSK4", "gene_names_refseq": "PP90RSK4; RPS6KA6; RSK-4; RSK4; S6K-alpha-6; p90RSK6", "protein_names_uniprotkb": "Ribosomal protein S6 kinase alpha-6; 2.7.11.1; 90 kDa ribosomal protein S6 kinase 6; RSK-4; Ribosomal S6 kinase 4; S6K-alpha-6; p90-RSK 6; p90RSK6; pp90RSK4", "protein_names_refseq": "90 kDa ribosomal protein S6 kinase 6; S6K-alpha 6; p90-RSK 6; ribosomal S6 kinase 4; ribosomal protein S6 kinase alpha-6 isoform 1; ribosomal protein S6 kinase alpha-6; ribosomal protein S6 kinase, 90kDa, polypeptide 6", "tax_id": 9606, "disease": "Coffin-Lowry syndrome (Disease Ontology:DOID:3783)", "pathway": " (hsa:27330); (R-HSA-437239); (R-HSA-442742); (R-HSA-444257)", "pathway_count": 4, "publication_count": 55, "publication_id_list": "10480933;10608864;10644430;10747093;10804209;10818153;11160957;11585927;11698596;12082080;12842905;12942088;15042092;15632195;16330023;17344846;18478542;18669648;18813292;19278660;21406692;2448316;25645385;25880248;25892735;26768311;27726376;29493099;30379171;31154438;31844290;32157095;32502341;32703488;32897882;32938616;32983136;33691108;33968037;34561969;34649054;34932366;35051231;35561310;35580925;36010968;36215666;36241641;37402066;38142759;7493978;9651214;9721721;9770464;9915826", "class_list": "", "function": "Constitutively active serine/threonine-protein kinase that exhibits growth-factor-independent kinase activity and that may participate in p53/TP53-dependent cell growth arrest signaling and play an inhibitory role during embryogenesis., [UniProtKB, PubMed, PubMed]; High RSK4 expression constitutes a predictor of poor prognosis for patients with clear cell renal carcinoma., [RefSeq, PubMed]; RSK4 promotes the macrophage recruitment and M2 polarization in esophageal squamous cell carcinoma., [RefSeq, PubMed]; RSK4: a new prognostic factor in glioma., [RefSeq, PubMed]; Ribosomal S6 kinase 4 (RSK4) tumor suppressor gene promoter methylation status in ovarian cancer., [RefSeq, PubMed]; The unusual regulation and growth factor-independent activity of ribosomal S6 kinase 4 (RSK4) indicate that it is functionally distinct from other RSKs and may explain why RSK4 can participate in non-growth factor signaling., [RefSeq, PubMed]; This gene encodes a member of ribosomal S6 kinase family, serine-threonine protein kinases which are regulated by growth factors. The encoded protein may be distinct from other members of this family, however, as studies suggest it is not growth factor dependent and may not participate in the same signaling pathways. [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": 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": 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": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 16, "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": "B2R854;B7ZL90;Q6FHX2;Q8WX28;Q9H4S6", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0004711 ribosomal protein S6 kinase activity;GO:0000287 magnesium ion binding;GO:0004672 protein kinase activity;GO:0005524 ATP binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0007165 signal transduction;GO:0007417 central nervous system development;GO:0070373 negative regulation of ERK1 and ERK2 cascade;GO:0038202 TORC1 signaling;GO:0030330 DNA damage response, signal transduction by p53 class mediator", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q9UK32-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UKQ9-1", "uniprot_id": "KLK9_HUMAN", "mass": 27513.0, "length": 250, "protein_name": "Kallikrein-9", "gene_name": "KLK9", "organism": "Human", "refseq_name": "kallikrein-9 precursor", "refseq_ac": "NP_036447", "gene_names_uniprotkb": "KLK9", "gene_names_refseq": "KLK-L3; KLK9; KLKL3", "protein_names_uniprotkb": "Kallikrein-9; 3.4.21.-; KLK-L3; Kallikrein-like protein 3", "protein_names_refseq": "kallikrein-9 precursor; kallikrein-like protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:284366)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "10652563;10783266;11054574;25747782;26231762;28559305;29095848", "class_list": "", "function": "Data demonstrate that elevated levels of KLK6, KLK7 and KLK9 proteins are associated with poor glioblastoma patients survival. Publication Status: Online-Only, [RefSeq, PubMed]; Data suggest that mature KLK9 (kallikrein 9) is a glycosylated chymotrypsin-like enzyme with strong preference for tyrosine over phenylalanine at P1 cleavage position; substrate specificity of KLK9 appears to extend to KLK10 and midkine; enzyme activity is enhanced by Mg2+ and Ca2+, but is reversibly attenuated by Zn2+; KLK9 is inhibited in vitro by many naturally occurring or synthetic protease inhibitors. Publication Status: Online-Only, [RefSeq, PubMed]; Pronounced correlations between KLK10/KLK11 (rs = 0.647) and between KLK9/KLK15 (rs = 0.716) mRNA, but not between other combinations, indicate coordinate expression of distinct pairs of peptidases Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a kallikrein-related serine protease. This gene is activated by steroid hormones in a human breast cancer cell line, making it a good marker for cancer detection. The encoded protein is found primarily in the cytoplasm.[provided by RefSeq, Oct 2010]., [RefSeq]; The serum level has the potential to be used as a biomarker for asthma, [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": 13, "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": "Q6QA55", "ec_number_list": "", "go_molecular_function": "GO:0004252 serine-type endopeptidase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0030141 secretory granule", "go_biological_process": "GO:0006508 proteolysis;GO:0051604 protein maturation", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q9UKQ9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UKR0-1", "uniprot_id": "KLK12_HUMAN", "mass": 26734.0, "length": 248, "protein_name": "Kallikrein-12", "gene_name": "KLK12", "organism": "Human", "refseq_name": "kallikrein-12 isoform 1 precursor", "refseq_ac": "NP_062544", "gene_names_uniprotkb": "KLK12; KLKL5; PRO1303", "gene_names_refseq": "KLK-L5; KLK12; KLKL5", "protein_names_uniprotkb": "Kallikrein-12; 3.4.21.-; KLK-L5; Kallikrein-like protein 5", "protein_names_refseq": "kallikrein-12 isoform 1 precursor; kallikrein-12; kallikrein-like protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:43849); (R-HSA-6809371)", "pathway_count": 2, "publication_count": 51, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10652563;10675891;10771479;11054574;11237011;11350120;11380615;11590230;12902340;12975309;15033990;15337775;15797384;15803139;16061697;16639001;17515931;17562024;17596512;18780401;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23481700;23629652;25926655;26390218;27706634;29807016;29874189;30429286;31485623;32028882;35051231;7543090;8824274;8999895;9395522;9565599", "class_list": "", "function": "KLK12 gene silencing reduces gastric cancer cell proliferation and migration. Publication Status: Online-Only, [RefSeq, PubMed]; KLK12 was overexpressed in colorectal cancer., [RefSeq, PubMed]; Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Alternate splicing of this gene results in three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]; Novel KLK11 and KLK12 splice variants represent new potential cancer biomarkers, [RefSeq, PubMed]; Prognostic value of kallikrein-related peptidase 12 (KLK12) mRNA expression in triple-negative breast cancer patients. Publication Status: Online-Only, [RefSeq, PubMed]; Results demonstrate the discriminative value of KLK12sv1/2 and KLK12sv3 between benign and malignant breast tumors as well as their potential favorable prognostic significance in breast adenocarcinoma., [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": 0, "reported_glycation": 0, "reported_snv": 13, "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": "Q9UKR1;Q9UKR2", "ec_number_list": "3.4.21.-", "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0008233 peptidase activity;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0030141 secretory granule", "go_biological_process": "GO:0006508 proteolysis;GO:0051604 protein maturation", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q9UKR0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96B70-1", "uniprot_id": "LENG9_HUMAN", "mass": 53167.0, "length": 501, "protein_name": "Leukocyte receptor cluster member 9", "gene_name": "LENG9", "organism": "Human", "refseq_name": "leukocyte receptor cluster member 9 isoform X1", "refseq_ac": "XP_045037336", "gene_names_uniprotkb": "LENG9", "gene_names_refseq": "LENG9", "protein_names_uniprotkb": "Leukocyte receptor cluster member 9", "protein_names_refseq": "leukocyte receptor cluster member 9 isoform X1", "tax_id": 9606, "disease": "", "pathway": " (hsa:94059)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;25505266;25576301;28411811;31844290;32387766;33392160;33981976;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": 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": "B2VAM3", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q96B70-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P18428-1", "uniprot_id": "LBP_HUMAN", "mass": 53384.0, "length": 481, "protein_name": "Lipopolysaccharide-binding protein", "gene_name": "LBP", "organism": "Human", "refseq_name": "lipopolysaccharide-binding protein precursor", "refseq_ac": "NP_004130", "gene_names_uniprotkb": "LBP", "gene_names_refseq": "BPIFD2; LBP", "protein_names_uniprotkb": "Lipopolysaccharide-binding protein; LBP", "protein_names_refseq": "BPI fold containing family D, member 2; LPS-binding protein; lipopolysaccharide-binding protein precursor", "tax_id": 9606, "disease": "metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); obstructive jaundice (Disease Ontology:DOID:13603); liver cirrhosis (Disease Ontology:DOID:5082); periodontitis (Disease Ontology:DOID:824); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:3929); (R-HSA-166016); (R-HSA-166020); (R-HSA-5686938); (R-HSA-6785807)", "pathway_count": 5, "publication_count": 163, "publication_id_list": "10023775;10201950;10219247;10369418;10510379;10586089;10867011;11058569;11084045;11104795;11120780;11274165;11278437;11278729;11356008;11404481;11463377;11509636;11724772;11960372;12110890;12214235;12223527;12242343;12471095;12600988;12817025;12832402;14556004;14634100;14712222;14978097;15116091;15261459;15276183;15584925;15596121;15805299;15869882;15950906;16007214;16048438;16107692;16205632;16213021;16236134;16303959;16397018;16451196;16467847;16510571;16540365;16606674;16751103;16754682;16757566;16834340;16855214;16878026;1698311;17427945;17458857;17481951;17572495;17767165;18079498;18222170;18233961;18243101;18297073;18353781;18354232;18447642;18559343;18644974;18990700;19112167;19124156;19159218;19185846;19397496;20037584;20133493;20473308;20493732;21102457;21252155;21689689;21730069;21871094;21937440;21994466;22046235;22078883;22158869;22205702;22344226;22383755;22489132;22693070;22851691;23086340;23124025;23172665;23446148;23455323;23555662;23967200;2402637;24097101;24120359;2462607;24743777;2477488;24833748;25234944;25825441;25880347;26992070;27543614;27742543;29391424;29557506;29789417;31154438;31608988;32157095;32938616;32983136;34171305;35051231;35294531;35332176;3537192;37074911;37480114;37789385;38615060;7510216;7512451;7517398;7529288;7685021;7795521;7796300;7898939;7907877;8085155;8602263;8621622;8663118;8668165;8797861;8816495;9013879;9240454;9441745;9651359;9665271;9723655;9736340;9822675;9874564", "class_list": "glycogene", "function": "Gastric cancer-derived LBP promotes liver metastasis by driving intrahepatic fibrotic pre-metastatic niche formation. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of CD14 and lipopolysaccharide-binding protein as novel biomarkers for sarcoidosis using proteomics of serum extracellular vesicles., [RefSeq, PubMed]; Lipopolysaccharide binding protein resists hepatic oxidative stress by regulating lipid droplet homeostasis. Publication Status: Online-Only, [RefSeq, PubMed]; Lipopolysaccharide-binding protein and future Parkinson's disease risk: a European prospective cohort. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in the innate immune response. Binds to the lipid A moiety of bacterial lipopolysaccharides (LPS), a glycolipid present in the outer membrane of all Gram-negative bacteria (PubMed:24120359, PubMed:7517398). Acts as an affinity enhancer for CD14, facilitating its association with LPS. Promotes the release of cytokines in response to bacterial lipopolysaccharide (PubMed:24120359, PubMed:7517398)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; SWATH-MS identification of CXCL7, LBP, TGFbeta1 and PDGFRbeta as novel biomarkers in human systemic mastocytosis. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is involved in the acute-phase immunologic response to gram-negative bacterial infections. Gram-negative bacteria contain a glycolipid, lipopolysaccharide (LPS), on their outer cell wall. Together with bactericidal permeability-increasing protein (BPI), the encoded protein binds LPS and interacts with the CD14 receptor, probably playing a role in regulating LPS-dependent monocyte responses. Studies in mice suggest that the encoded protein is necessary for the rapid acute-phase response to LPS but not for the clearance of LPS from circulation. This protein is part of a family of structurally and functionally related proteins, including BPI, plasma cholesteryl ester transfer protein (CETP), and phospholipid transfer protein (PLTP). [provided by RefSeq, Apr 2012]., [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": 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": 660, "reported_interactions": 0, "missing_score": 8593, "biomarker_type": "", "glycan_count": 7, "disease_count": 5, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B2R938;O43438;Q92672;Q9H403;Q9UD66", "ec_number_list": "", "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0015026 coreceptor activity;GO:0001530 lipopolysaccharide binding;GO:0071723 lipopeptide binding;GO:0070891 lipoteichoic acid binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0009986 cell surface;GO:0070062 extracellular exosome", "go_biological_process": "GO:0043032 positive regulation of macrophage activation;GO:0032496 response to lipopolysaccharide;GO:0045087 innate immune response;GO:0050829 defense response to Gram-negative bacterium;GO:0050830 defense response to Gram-positive bacterium", "synthesized_glycan_count": 0, "hit_score": 17.3, "record_id": "P18428-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q05315-1", "uniprot_id": "LEG10_HUMAN", "mass": 16453.0, "length": 142, "protein_name": "Galectin-10", "gene_name": "CLC", "organism": "Human", "refseq_name": "galectin-10", "refseq_ac": "NP_001819", "gene_names_uniprotkb": "CLC; LGALS10A; LGALS10", "gene_names_refseq": "CLC; GAL10; Gal-10; LGALS10A; LGALS10; LPPL_HUMAN", "protein_names_uniprotkb": "Galectin-10; CLC; Charcot-Leyden crystal protein; Eosinophil lysophospholipase; Gal-10; Lysolecithin acylhydrolase", "protein_names_refseq": "Charcot-Leyden crystal protein; eosinophil lysophospholipase; galectin-10; lectin, galactoside-binding, soluble, 10; lysolecithin acylhydrolase", "tax_id": 9606, "disease": "very long chain acyl-CoA dehydrogenase deficiency (Disease Ontology:DOID:0080155); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); Alzheimer's disease (Disease Ontology:DOID:10652)", "pathway": " (hsa:1178)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "10529229;11834744;1577491;16457599;17502455;19497882;19758173;22880030;27452731;27543614;29293962;29557506;30239701;31123109;31217245;32081418;32897882;34171305;35274950;35580925;36291593;36988350;37102643;37640566;39227094;8419478;8747464;9119387", "class_list": "glycogene", "function": "Behcet syndrome: The disturbed balance between anti- (CLEC12A, CLC) and proinflammatory (IFI27) gene expressions., [RefSeq, PubMed]; Crystalline State Determines the Potency of Galectin-10 Protein Assembly to Induce Inflammation., [RefSeq, PubMed]; Eosinophil-derived galectin-10 upregulates matrix metalloproteinase expression in bullous pemphigoid blisters., [RefSeq, PubMed]; Galectin-10 as a Potential Biomarker for Eosinophilic Diseases. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Glutathione disrupts galectin-10 Charcot-Leyden crystal formation to possibly ameliorate eosinophil-based diseases such as asthma., [RefSeq, PubMed]; Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene is a lysophospholipase expressed in eosinophils and basophils. It hydrolyzes lysophosphatidylcholine to glycerophosphocholine and a free fatty acid. This protein may possess carbohydrate or IgE-binding activities. It is both structurally and functionally related to the galectin family of beta-galactoside binding proteins. It may be associated with inflammation and some myeloid leukemias. [provided by RefSeq, Jul 2008]., [RefSeq]; Regulates immune responses through the recognition of cell-surface glycans. Essential for the anergy and suppressive function of CD25-positive regulatory T-cells (Treg)., [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": 183, "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": "C5HZ13;C5HZ14;Q0VDE3", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0030246 carbohydrate binding", "go_cellular_component": "GO:0005829 cytosol;GO:0031012 extracellular matrix", "go_biological_process": "GO:0002667 regulation of T cell anergy;GO:0002724 regulation of T cell cytokine production;GO:0070231 T cell apoptotic process;GO:0046006 regulation of activated T cell proliferation", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q05315-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VSP4-1", "uniprot_id": "LC1L1_HUMAN", "mass": 17918.0, "length": 162, "protein_name": "Putative lipocalin 1-like protein 1", "gene_name": "LCN1P1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "LCN1P1; LCN1L1", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative lipocalin 1-like protein 1; Lipocalin 1-like pseudogene 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "May bind a variety of ligands including lipids., [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:0036094 small molecule binding", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q5VSP4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6B0I6-1", "uniprot_id": "KDM4D_HUMAN", "mass": 58603.0, "length": 523, "protein_name": "Lysine-specific demethylase 4D", "gene_name": "KDM4D", "organism": "Human", "refseq_name": "lysine-specific demethylase 4D", "refseq_ac": "NP_060509", "gene_names_uniprotkb": "KDM4D; JHDM3D; JMJD2D", "gene_names_refseq": "JMJD2D; KDM4D", "protein_names_uniprotkb": "Lysine-specific demethylase 4D; 1.14.11.66; JmjC domain-containing histone demethylation protein 3D; Jumonji domain-containing protein 2D; [histone H3]-trimethyl-L-lysine(9) demethylase 4D", "protein_names_refseq": "[histone H3]-trimethyl-L-lysine(9) demethylase 4D; jmjC domain-containing histone demethylation protein 3D; jumonji domain containing 2D; jumonji domain-containing protein 2D; lysine (K)-specific demethylase 4D; lysine-specific demethylase 4D", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574); nephroblastoma (Disease Ontology:DOID:2154)", "pathway": " (hsa:55693); (R-HSA-3214842)", "pathway_count": 2, "publication_count": 52, "publication_id_list": "15138608;15620353;16362057;16603237;16603238;16732292;16732293;16738407;17310255;17320163;17351631;17555712;17713478;17947579;19007248;19502796;19727073;19843542;20023638;20084082;20129925;20208542;20457893;20622853;20622854;21532585;22615488;23102699;25892735;26741168;26811146;27846572;27920218;29393594;29563586;29632046;29769354;30315122;32157095;32265295;32754284;32897882;32989255;33109704;33434575;33981976;35051231;35145029;35580925;36579641;37217939;37828372", "class_list": "", "function": "Demethylase-independent function of JMJD2D as a novel antagonist of p53 to promote Liver Cancer initiation and progression. Publication Status: Online-Only, [RefSeq, PubMed]; Histone demethylase JMJD2D activates HIF1 signaling pathway via multiple mechanisms to promote colorectal cancer glycolysis and progression. Erratum:[Oncogene. 2021 Mar;40(12):2336-2337. doi: 10.1038/s41388-021-01678-9. PMID: 33619324], [RefSeq, PubMed]; Histone demethylase JMJD2D promotes the self-renewal of liver cancer stem-like cells by enhancing EpCAM and Sox9 expression., [RefSeq, PubMed]; Histone demethylase that specifically demethylates 'Lys-9' of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-4', H3 'Lys-27', H3 'Lys-36' nor H4 'Lys-20'. Demethylates both di- and trimethylated H3 'Lys-9' residue, while it has no activity on monomethylated residues. Demethylation of Lys residue generates formaldehyde and succinate., [UniProtKB, PubMed, PubMed]; Identified two related histone demethylases, JMJD2A and JMJD2D, [RefSeq, PubMed]; KDM4D enhances osteo/dentinogenic differentiation and migration of SCAPs via binding to RPS5., [RefSeq, PubMed]; MicroRNA-409-5p Inhibits GIST Tumorigenesis and Improves Imatinib Resistance by Targeting KDM4D Expression., [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "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": "B3KPC4;Q0VF39;Q9NT41;Q9NW76", "ec_number_list": "1.14.11.66;1.14.11.-;1.14.11.69;1.14.11.79", "go_molecular_function": "GO:0046872 metal ion binding;GO:0003684 damaged DNA binding;GO:0031490 chromatin DNA binding;GO:0032452 histone demethylase activity;GO:0032454 histone H3K9 demethylase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0072562 blood microparticle;GO:0000785 chromatin;GO:0035861 site of double-strand break", "go_biological_process": "GO:0035563 positive regulation of chromatin binding;GO:2001034 positive regulation of double-strand break repair via nonhomologous end joining;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0006954 inflammatory response", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q6B0I6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7LBC6-1", "uniprot_id": "KDM3B_HUMAN", "mass": 191581.0, "length": 1761, "protein_name": "Lysine-specific demethylase 3B", "gene_name": "KDM3B", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "KDM3B; C5orf7; JHDM2B; JMJD1B; KIAA1082", "gene_names_refseq": "", "protein_names_uniprotkb": "Lysine-specific demethylase 3B; 1.14.11.65; JmjC domain-containing histone demethylation protein 2B; Jumonji domain-containing protein 1B; Nuclear protein 5qNCA; [histone H3]-dimethyl-L-lysine(9) demethylase 3B", "protein_names_refseq": "", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574); breast cancer (Disease Ontology:DOID:1612); lung non-small cell carcinoma (Disease Ontology:DOID:3908); colorectal cancer (Disease Ontology:DOID:9256); acute lymphoblastic leukemia (Disease Ontology:DOID:9952); Diets-Jongmans syndrome (MONDO:MONDO:0030012)", "pathway": " (hsa:51780); (R-HSA-3214842)", "pathway_count": 2, "publication_count": 133, "publication_id_list": "10.1101/2023.09.13.557529;11087669;11237011;11687974;15620353;16362057;16603237;16603238;16732292;16732293;16738407;17081983;17310255;17320163;17351631;17713478;17947579;18212344;18669648;19413330;19502796;19608861;19651622;19727073;19843542;20023638;20068231;20084082;20129925;20208542;20457893;20622853;20622854;21532585;22424782;22615488;22661428;23186163;23301498;23481700;23593242;24714562;24715725;25418920;25576301;25645385;25880248;26154972;26728094;26811146;26992070;27846572;27862975;28063628;28228285;28510447;28832583;28904123;29237092;29351928;29508533;29557506;29563586;29786170;30059200;30315122;30379171;30410026;30429286;30484775;30620550;30929739;31217245;31492838;31844290;32119511;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32574038;32897882;32938616;32938750;32983136;33141586;33214551;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;34019948;34087483;34171305;34405274;34509645;34561969;34725712;34846842;34931806;34932366;35051231;35132862;35138101;35251023;35254053;35289036;35513511;35561310;35580925;35705054;36010968;36215666;36241641;36284347;37340703;37541260;38665916;38838015;39302247;39531497;39534244;40136647;40307207;40914422;41350704", "class_list": "", "function": "Histone demethylase that specifically demethylates 'Lys-9' of histone H3, thereby playing a central role in histone code. Demethylation of Lys residue generates formaldehyde and succinate. May have tumor suppressor activity., [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": 2, "reported_o_glycosites_with_glycan": 37, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 37, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 37, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 33, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 84, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 6, "glyco_site_count": 40, "binding_glycan_count": 0, "secondary_ac_list": "A6H8X7;Q9BVH6;Q9BW93;Q9BZ52;Q9NYF4;Q9UPS0", "ec_number_list": "1.14.11.65;1.14.11.-;1.14.99.66", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0031490 chromatin DNA binding;GO:0003712 transcription coregulator activity;GO:0032454 histone H3K9 demethylase activity;GO:0140683 histone H3K9me/H3K9me2 demethylase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0000118 histone deacetylase complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 17.7, "record_id": "Q7LBC6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96DT0-1", "uniprot_id": "LEG12_HUMAN", "mass": 37542.0, "length": 336, "protein_name": "Galectin-12", "gene_name": "LGALS12", "organism": "Human", "refseq_name": "galectin-12 isoform 4", "refseq_ac": "NP_001136009", "gene_names_uniprotkb": "LGALS12; GRIP1", "gene_names_refseq": "GAL12; GRIP1; LGALS12", "protein_names_uniprotkb": "Galectin-12; Gal-12; Galectin-related inhibitor of proliferation", "protein_names_refseq": "galectin-12 isoform 4; galectin-related inhibitor of proliferation; lectin, galactoside-binding, soluble, 12; testicular secretory protein Li 26", "tax_id": 9606, "disease": "", "pathway": " (hsa:85329)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11237011;11283015;11435439;15131127;25953264;26992070;27256573;29557506;30620550;30935948;32752134;32897882;32983136;33123756;34860822;35051231;38492532;38685860", "class_list": "glycogene", "function": "Ablation of Galectin-12 Inhibits Atherosclerosis through Enhancement of M2 Macrophage Polarization. Publication Status: Online-Only, [RefSeq, PubMed]; Binds lactose. May participate in the apoptosis of adipocytes., [UniProtKB, UniProtKB, UniProtKB]; Expression and secretion of galectin-12 in the context of neutrophilic differentiation of human promyeloblastic HL-60 cells., [RefSeq, PubMed]; Galectin-12 in Pancreatic Cancer: A New Player in the Microenvironment?, [RefSeq, PubMed]; Lower LGALS12 gene expression is associated with acute myeloid leukemia., [RefSeq, PubMed]; Overexpression of galectin-12 contributes to a differentiation block in acute promyelocytic leukemia cells, and suppression of galectin-12 facilitates granulocytic differentiation., [RefSeq, PubMed]; Placental expression of inflammatory Galectin-12 is associated with gestational diabetes., [RefSeq, PubMed]; Results suggest that mouse galectin-12 is a major regulator of adipose tissue development, [RefSeq, PubMed]; That binding of galectin-12 to SLC1A5 significantly reduced glutamine uptake, [RefSeq, PubMed]; This gene encodes a member of the galectin superfamily, a group of beta-galactoside-binding proteins with conserved carbohydrate recognition domains. The related mouse protein is a primary regulator of the early stages of adipose tissue development. Alternatively spliced transcript variants encoding different isoforms have been described. [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 106, "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": "B2R9N2;G5E970;Q96DS9;Q96PR9;Q9H258;Q9H259;Q9NZ02", "ec_number_list": "", "go_molecular_function": "GO:0030395 lactose binding;GO:0030246 carbohydrate binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "GO:0097193 intrinsic apoptotic signaling pathway;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q96DT0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BQE6-1", "uniprot_id": "LBHD1_HUMAN", "mass": 31565.0, "length": 289, "protein_name": "LBH domain-containing protein 1", "gene_name": "LBHD1", "organism": "Human", "refseq_name": "LBH domain-containing protein 1 isoform b", "refseq_ac": "NP_077004", "gene_names_uniprotkb": "LBHD1; C11orf48", "gene_names_refseq": "C11orf48; LBHD1", "protein_names_uniprotkb": "LBH domain-containing protein 1", "protein_names_refseq": "LBH domain-containing protein 1 isoform b; LBH domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:79081)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;18828023;35580925;39894887", "class_list": "", "function": "This gene shares three exons in common with another gene, chromosome 11 open reading frame 98 (GeneID:102288414), but the encoded protein uses a reading frame that is different from that of the chromosome 11 open reading frame 98 gene. [provided by RefSeq, Nov 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": 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": "Q96NA4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q9BQE6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A075B6S2-1", "uniprot_id": "KVD29_HUMAN", "mass": 13143.0, "length": 120, "protein_name": "Immunoglobulin kappa variable 2D-29", "gene_name": "IGKV2D-29", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "IGKV2D-29", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin kappa variable 2D-29", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "11549845;17576170;20176268;22158414;24600447;26811146", "class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). 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]", "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": 335, "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": "A0A087X0P6", "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": 0.7, "record_id": "A0A075B6S2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A0A0MRZ7-1", "uniprot_id": "KVD26_HUMAN", "mass": 13297.0, "length": 120, "protein_name": "Immunoglobulin kappa variable 2D-26", "gene_name": "IGKV2D-26", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "IGKV2D-26", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin kappa variable 2D-26", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 8, "publication_id_list": "11549845;17576170;20176268;22158414;24600447;32265295;32488085;32983136", "class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). 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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 218, "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": 0.9, "record_id": "A0A0A0MRZ7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A1A4G5-1", "uniprot_id": "LNP1_HUMAN", "mass": 21321.0, "length": 178, "protein_name": "Leukemia NUP98 fusion partner 1", "gene_name": "LNP1", "organism": "Human", "refseq_name": "leukemia NUP98 fusion partner 1", "refseq_ac": "NP_001078920", "gene_names_uniprotkb": "LNP1; NP3", "gene_names_refseq": "LNP1; NP3", "protein_names_uniprotkb": "Leukemia NUP98 fusion partner 1", "protein_names_refseq": "leukemia NUP98 fusion partner 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:348801)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;16467868", "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": "B7ZLT3", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A1A4G5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A8MX34-1", "uniprot_id": "KR291_HUMAN", "mass": 35211.0, "length": 341, "protein_name": "Keratin-associated protein 29-1", "gene_name": "KRTAP29-1", "organism": "Human", "refseq_name": "keratin-associated protein 29-1", "refseq_ac": "NP_001244238", "gene_names_uniprotkb": "KRTAP29-1; KAP29.2", "gene_names_refseq": "KAP29.2; KRTAP29-1", "protein_names_uniprotkb": "Keratin-associated protein 29-1; Keratin-associated protein 29.2", "protein_names_refseq": "Keratin-associated protein 29.2; keratin associated protein 29-1; keratin-associated protein 29-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:100533177); (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": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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:0005198 structural molecule activity", "go_cellular_component": "GO:0005829 cytosol;GO:0045095 keratin filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "A8MX34-1", "record_type": "protein" }, { "uniprot_canonical_ac": "C9JBD0-1", "uniprot_id": "KRBD1_HUMAN", "mass": 14906.0, "length": 128, "protein_name": "KRAB domain-containing protein 1", "gene_name": "KRABD1", "organism": "Human", "refseq_name": "KRAB domain-containing protein 1", "refseq_ac": "NP_001192201", "gene_names_uniprotkb": "KRABD1; KRBOX1", "gene_names_refseq": "KRABD1; KRBOX1", "protein_names_uniprotkb": "KRAB domain-containing protein 1", "protein_names_refseq": "KRAB box domain containing 1; KRAB domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:100506243)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "28832583;28904123;29242379;30379171;30429286;31844290;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": 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": "B4DJE8", "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_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "C9JBD0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UQV4-1", "uniprot_id": "LAMP3_HUMAN", "mass": 44346.0, "length": 416, "protein_name": "Lysosome-associated membrane glycoprotein 3", "gene_name": "LAMP3", "organism": "Human", "refseq_name": "lysosome-associated membrane glycoprotein 3 precursor", "refseq_ac": "NP_055213", "gene_names_uniprotkb": "LAMP3; DCLAMP; TSC403", "gene_names_refseq": "CD208; DC LAMP; DC-LAMP; DCLAMP; LAMP-3; LAMP3; LAMP; TSC403", "protein_names_uniprotkb": "Lysosome-associated membrane glycoprotein 3; DC LAMP; DC-lysosome-associated membrane glycoprotein; LAMP-3; Lysosomal-associated membrane protein 3; Protein TSC403", "protein_names_refseq": "DC-lysosome-associated membrane glycoprotein; lysosomal associated membrane protein 3; lysosome-associated membrane glycoprotein 3 precursor; lysosome-associated membrane glycoprotein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:27074)", "pathway_count": 1, "publication_count": 55, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;11237011;16204031;21810281;21930964;22809326;23481700;23584533;23783831;24190977;24434718;25502872;25681212;26154972;27090790;27329040;27846572;27920218;28063628;28228285;28467828;28832583;28871256;28904123;29056532;29242379;29508533;29557506;29632046;29774024;30459171;30573663;30626607;31611695;31844290;32295904;32350084;32502341;32938616;32983136;33981976;34932366;35051231;35154160;35251023;35580925;36010968;37217939;37878884;38217544;38330730;39894887;9721848;9768752", "class_list": "", "function": "(Microbial infection) Plays a positive role in post-entry steps of influenza A virus replication, either virus uncoating, cytosolic transport, or nuclear import of viral components, and promotes nuclear accumulation of influenza nucleoprotein/NP at early stages of viral infection., [UniProtKB, PubMed]; (Microbial infection) Promotes the intracellular proliferation of Salmonella typhimuium., [UniProtKB, PubMed]; (Microbial infection) Supports the FURIN-mediated cleavage of mumps virus fusion protein F by interacting with both FURIN and the unprocessed form but not the processed form of the viral protein F., [UniProtKB, PubMed]; Findings indicate that LAMP3 overexpression is associated with an enhanced metastatic potential and may be a prognostic factor for cervical cancer., [RefSeq, PubMed]; Inhibition of LAMP3 mediates the protective effect of vitamin D against hypoxia/reoxygenation in trophoblast cells. Publication Status: Online-Only, [RefSeq, PubMed]; LAMP3 is a potent uterine corpus endometrial carcinoma prognostic biomarker associated with immune behavior., [RefSeq, PubMed]; Lysosomal membrane glycoprotein which plays a role in the unfolded protein response (UPR) that contributes to protein degradation and cell survival during proteasomal dysfunction (PubMed:25681212). Plays a role in the process of fusion of the lysosome with the autophagosome, thereby modulating the autophagic process (PubMed:24434718). Promotes hepatocellular lipogenesis through activation of the PI3K/Akt pathway (PubMed:29056532). May also play a role in dendritic cell function and in adaptive immunity (PubMed:9768752)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; The subtilisin-like protease furin regulates hemin-induced CD63 surface expression on platelets., [RefSeq, PubMed]; This gene encodes lysosome-associated membrane glycoprotein 3, a type 1 integral membrane protein that belongs to a family of lysosome associated membrane proteins which form part of the glycoconjugate coat present on the inside of the lysosomal membrane. It is predominantly expressed in mature dendritic cells and serves as a marker of dendritic cell maturation. The encoded protein localizes primarily to late endosomes/lysosomes and the MHC class II compartment, where it contributes to antigen processing and presentation during adaptive immune responses. The expression of this gene is inducible under hypoxic conditions via hypoxia-inducible factor 1-alpha signaling. In cancer, this gene is frequently overexpressed and is associated with tumor progression, metastasis, therapy resistance, and poor clinical prognosis in multiple malignancies including breast, cervical, and ovarian cancers. [provided by RefSeq, Feb 2026]., [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": 1, "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": 4, "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": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 0, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "D3DNS4;O94781;Q8NEC8", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005769 early endosome;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0048471 perinuclear region of cytoplasm;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0072594 establishment of protein localization to organelle;GO:0010506 regulation of autophagy;GO:0010628 positive regulation of gene expression;GO:0002250 adaptive immune response;GO:1901799 negative regulation of proteasomal protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q9UQV4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BYU5-1", "uniprot_id": "KRA21_HUMAN", "mass": 13514.0, "length": 128, "protein_name": "Keratin-associated protein 2-1", "gene_name": "KRTAP2-1", "organism": "Human", "refseq_name": "keratin-associated protein 2-1", "refseq_ac": "NP_001116859", "gene_names_uniprotkb": "KRTAP2-1; KAP2.1; KRTAP2.1A; KRTAP2.1B", "gene_names_refseq": "KAP2.1A; KRTAP2-1; KRTAP2.1A", "protein_names_uniprotkb": "Keratin-associated protein 2-1; High sulfur keratin-associated protein 2.1; Keratin-associated protein 2.1", "protein_names_refseq": "high sulfur keratin-associated protein 2.1; keratin associated protein KRTAP2.1A; keratin-associated protein 2-1; keratin-associated protein 2.1", "tax_id": 9606, "disease": "", "pathway": " (hsa:81872); (R-HSA-6805567)", "pathway_count": 2, "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": "", "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": "Q9BYU5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N0V4-1", "uniprot_id": "LGI2_HUMAN", "mass": 62298.0, "length": 545, "protein_name": "Leucine-rich repeat LGI family member 2", "gene_name": "LGI2", "organism": "Human", "refseq_name": "leucine-rich repeat LGI family member 2 precursor", "refseq_ac": "NP_060646", "gene_names_uniprotkb": "LGI2; KIAA1916; LGIL2", "gene_names_refseq": "LGI2; LGIL2", "protein_names_uniprotkb": "Leucine-rich repeat LGI family member 2; LGI1-like protein 2; Leucine-rich glioma-inactivated protein 2", "protein_names_refseq": "LGI1-like protein 2; leucine-rich glioma-inactivated protein 2; leucine-rich repeat LGI family member 2 precursor; leucine-rich, glioma inactivated 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:55203); (R-HSA-5682910)", "pathway_count": 2, "publication_count": 20, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12023020;12095917;12217514;16990550;17387609;18628660;18974846;20162351;20183877;20220021;20461023;20863412;21829378;23481700;29557506;29789417;33141586;35051231", "class_list": "", "function": "Protein sequence analysis and patient-specific chromosomal deletions are provided for LGI2 as the prime candidate gene for partial epilepsy with pericentral spikes among the 52 genes known at locus 4p15, [RefSeq, PubMed]; Required for the development of soma-targeting inhibitory GABAergic synapses made by parvalbumin-positive basket cells., [UniProtKB, UniProtKB]; The similarity of LGI2 share a common molecular disease mechanism causing genotypically distinct but phenotypically related forms of epilepsy. Publication Status: Online-Only, [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": 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": 22, "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": "Q3MIN2;Q8NDW6;Q96PX2;Q9NVK4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:1904862 inhibitory synapse assembly", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q8N0V4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P04432-1", "uniprot_id": "KVD39_HUMAN", "mass": 12737.0, "length": 117, "protein_name": "Immunoglobulin kappa variable 1D-39", "gene_name": "IGKV1D-39", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "IGKV1D-39", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin kappa variable 1D-39; Ig kappa chain V-I region Daudi", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-166663); (R-HSA-173623); (R-HSA-198933); (R-HSA-202733); (R-HSA-2029481); (R-HSA-2029482); (R-HSA-2029485); (R-HSA-2168880); (R-HSA-2454202); (R-HSA-2730905); (R-HSA-2871796); (R-HSA-2871809); (R-HSA-2871837); (R-HSA-5690714); (R-HSA-9664323); (R-HSA-9664422); (R-HSA-9679191); (R-HSA-977606); (R-HSA-983695)", "pathway_count": 19, "publication_count": 534, "publication_id_list": 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"class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). 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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 74, "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:0003823 antigen binding", "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": 53.5, "record_id": "P04432-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P06315-1", "uniprot_id": "KV502_HUMAN", "mass": 12728.0, "length": 115, "protein_name": "Immunoglobulin kappa variable 5-2", "gene_name": "IGKV5-2", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "IGKV5-2", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin kappa variable 5-2; Ig kappa chain V region EV15", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-166663); (R-HSA-173623); (R-HSA-198933); (R-HSA-202733); (R-HSA-2029481); (R-HSA-2029482); (R-HSA-2029485); (R-HSA-2168880); (R-HSA-2454202); (R-HSA-2730905); (R-HSA-2871796); (R-HSA-2871809); (R-HSA-2871837); (R-HSA-5690714); (R-HSA-9664323); (R-HSA-9664422); (R-HSA-9679191); (R-HSA-977606); (R-HSA-983695)", "pathway_count": 19, "publication_count": 533, "publication_id_list": 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"class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). 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]", "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": 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": 462, "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:0003823 antigen binding", "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": 53.5, "record_id": "P06315-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P11279-1", "uniprot_id": "LAMP1_HUMAN", "mass": 44882.0, "length": 417, "protein_name": "Lysosome-associated membrane glycoprotein 1", "gene_name": "LAMP1", "organism": "Human", "refseq_name": "lysosome-associated membrane glycoprotein 1 isoform 1 precursor", "refseq_ac": "NP_005552", "gene_names_uniprotkb": "LAMP1", "gene_names_refseq": "CD107a; LAMP1; LAMPA; LGP120", "protein_names_uniprotkb": "Lysosome-associated membrane glycoprotein 1; CD107 antigen-like family member A; LAMP-1; Lysosome-associated membrane protein 1", "protein_names_refseq": "CD107 antigen-like family member A; lysosomal associated membrane protein 1; lysosome-associated membrane glycoprotein 1 isoform 1 precursor; lysosome-associated membrane glycoprotein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:3916); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 141, "publication_id_list": "37268159;10.1007/s00018-021-03863-1;10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;12754519;16176980;16335952;17897319;18512783;19159218;19531498;20068231;20112406;2022921;2243102;22641697;23090970;23301498;23345538;23584533;23632890;23650620;23847195;24088571;24190977;24715725;24970085;25418920;25502872;25576301;25645385;25813380;2584229;25972533;26154972;26374642;26375851;26811146;26992070;27452731;27605678;27726376;27846572;27862975;27920218;28218747;28448640;28467828;28657654;28832583;28855257;28871256;28904123;2912382;29242379;29295909;29314611;29317506;29351928;29391424;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29671580;29741879;29774024;29786170;29789417;30315122;30410026;30429286;30459171;30573663;31020640;31154438;3131762;31611695;31844290;31848261;3198605;31998317;32119511;32125861;32157095;32161166;32265295;32295904;32350084;32387766;32502341;32938616;32983136;33043033;33091337;33141586;33214551;33298915;33465208;33592498;33912179;33936100;33968037;33981976;34019948;34078123;34089345;34171305;34357683;34433824;34725712;34932366;35051231;35154160;35251023;35289036;35561310;35580925;36010968;36240223;36241641;37074911;37390818;37938771;38215735;38218945;38231876;38665916;39031743;39284914;40596516;40914422;41018975;7685349;8323299;8517882;8692836", "class_list": "glycogene", "function": "(Microbial infection) Acts as a receptor for Lassa virus glycoprotein (PubMed:24970085, PubMed:25972533, PubMed:27605678, PubMed:28448640). Also promotes fusion of the virus with host membrane in less acidic endosomes (PubMed:29295909)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; (Microbial infection) Supports the FURIN-mediated cleavage of mumps virus fusion protein F by interacting with both FURIN and the unprocessed form but not the processed form of the viral protein F., [UniProtKB, PubMed]; Comparative Analysis of Site-Specific N-glycosylation of LAMP1 from Breast Cancer Tissues., [RefSeq, PubMed]; E3 Ubiquitin Ligase RNF13 Suppresses TLR Lysosomal Degradation by Promoting LAMP-1 Proteasomal Degradation., [RefSeq, PubMed]; Loss of RND3/RHOE controls entosis through LAMP1 expression in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Lysosomal membrane glycoprotein which plays an important role in lysosome biogenesis, lysosomal pH regulation, autophagy and cholesterol homeostasis (PubMed:37390818). Acts as an important regulator of lysosomal lumen pH regulation by acting as a direct inhibitor of the proton channel TMEM175, facilitating lysosomal acidification for optimal hydrolase activity (PubMed:37390818). Also plays an important role in NK-cells cytotoxicity (PubMed:2022921, PubMed:23632890). Mechanistically, participates in cytotoxic granule movement to the cell surface and perforin trafficking to the lytic granule (PubMed:23632890). In addition, protects NK-cells from degranulation-associated damage induced by their own cytotoxic granule content (PubMed:23847195). Presents carbohydrate ligands to selectins (PubMed:7685349)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Lysosomal membrane proteins LAMP1 and LIMP2 are segregated in the Golgi apparatus independently of their clathrin adaptor binding motif., [RefSeq, PubMed]; The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may also play a role in tumor cell metastasis. [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": 19, "reported_o_glycosites": 6, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 16, "reported_o_glycosites_with_glycan": 20, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 19, "total_reported_o_glycosites": 20, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 19, "total_o_glycosites": 21, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 6, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 497, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 336, "disease_count": 0, "glyco_site_count": 39, "binding_glycan_count": 0, "secondary_ac_list": "B4DWL3;Q8WU33;Q96I40;Q9BRD2;Q9NP13", "ec_number_list": "", "go_molecular_function": "GO:0019899 enzyme binding;GO:0019904 protein domain specific binding;GO:0001618 virus receptor activity;GO:0008200 ion channel inhibitor activity", "go_cellular_component": "GO:0000421 autophagosome membrane;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0072594 establishment of protein localization to organelle;GO:0050821 protein stabilization;GO:0090160 Golgi to lysosome transport;GO:0043323 positive regulation of natural killer cell degranulation;GO:0045954 positive regulation of natural killer cell mediated cytotoxicity", "synthesized_glycan_count": 0, "hit_score": 51.7, "record_id": "P11279-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P60014-1", "uniprot_id": "KR10A_HUMAN", "mass": 25571.0, "length": 251, "protein_name": "Keratin-associated protein 10-10", "gene_name": "KRTAP10-10", "organism": "Human", "refseq_name": "keratin-associated protein 10-10", "refseq_ac": "NP_859016", "gene_names_uniprotkb": "KRTAP10-10; KAP10.10; KAP18-10; KRTAP10.10; KRTAP18-1; KRTAP18.10", "gene_names_refseq": "KAP10.10; KAP18.10; KRTAP10-10; KRTAP18-10; KRTAP18.10", "protein_names_uniprotkb": "Keratin-associated protein 10-10; High sulfur keratin-associated protein 10.10; Keratin-associated protein 10.10; Keratin-associated protein 18-10; Keratin-associated protein 18.10", "protein_names_refseq": "high sulfur keratin-associated protein 10.10; keratin-associated protein 10-10; keratin-associated protein 18-10", "tax_id": 9606, "disease": "", "pathway": " (hsa:353333); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 13, "publication_id_list": "14962103;15028290;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 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": 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": "", "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": 1.4, "record_id": "P60014-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P60368-1", "uniprot_id": "KR102_HUMAN", "mass": 25616.0, "length": 255, "protein_name": "Keratin-associated protein 10-2", "gene_name": "KRTAP10-2", "organism": "Human", "refseq_name": "keratin-associated protein 10-2", "refseq_ac": "NP_941966", "gene_names_uniprotkb": "KRTAP10-2; KAP10.2; KAP18-2; KRTAP10.2; KRTAP18-2; KRTAP18.2", "gene_names_refseq": "KAP10.2; KAP18-2; KAP18.2; KRTAP10-2; KRTAP10.2; KRTAP18-2; KRTAP18.2", "protein_names_uniprotkb": "Keratin-associated protein 10-2; High sulfur keratin-associated protein 10.2; Keratin-associated protein 10.2; Keratin-associated protein 18-2; Keratin-associated protein 18.2", "protein_names_refseq": "high sulfur keratin-associated protein 10.2; keratin-associated protein 10-2; keratin-associated protein 18-2; keratin-associated protein 18.2", "tax_id": 9606, "disease": "", "pathway": " (hsa:386679); (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]; This gene encodes a member of the high sulfur-type keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. This gene is located in a cluster of similar genes on 21q22.3. Alternatively-spliced transcript variants have been identified. [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": 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": "Q70LJ5", "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": "P60368-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P60369-1", "uniprot_id": "KR103_HUMAN", "mass": 22348.0, "length": 221, "protein_name": "Keratin-associated protein 10-3", "gene_name": "KRTAP10-3", "organism": "Human", "refseq_name": "keratin-associated protein 10-3", "refseq_ac": "NP_941969", "gene_names_uniprotkb": "KRTAP10-3; KAP10.3; KAP18-3; KRTAP10.3; KRTAP18-3; KRTAP18.3", "gene_names_refseq": "KAP10.3; KAP18-3; KAP18.3; KRTAP10-3; KRTAP10.3; KRTAP18-3; KRTAP18.3", "protein_names_uniprotkb": "Keratin-associated protein 10-3; High sulfur keratin-associated protein 10.3; Keratin-associated protein 10.3; Keratin-associated protein 18-3; Keratin-associated protein 18.3", "protein_names_refseq": "high sulfur keratin-associated protein 10.3; keratin-associated protein 10-3; keratin-associated protein 18-3; keratin-associated protein 18.3", "tax_id": 9606, "disease": "", "pathway": " (hsa:386682); (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]; This gene encodes 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 gene encodes a member of the high sulfur KAP family. It is localized to a cluster of intronless KAPs at 21q22.3 which are located within the introns of the C21orf29 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": 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": "A3KN67;Q70LJ4", "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": "P60369-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q107X0-1", "uniprot_id": "KRIP1_HUMAN", "mass": 14401.0, "length": 134, "protein_name": "Putative protein KRIP1", "gene_name": "KLKP1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "KLKP1; KLK31P", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative protein KRIP1; KARMA; Kallikrein-related in prostate protein 1; Kallikrein-related mRNA protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "16541416;18196551", "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:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q107X0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13753-1", "uniprot_id": "LAMC2_HUMAN", "mass": 130976.0, "length": 1193, "protein_name": "Laminin subunit gamma-2", "gene_name": "LAMC2", "organism": "Human", "refseq_name": "laminin subunit gamma-2 isoform a precursor", "refseq_ac": "NP_005553", "gene_names_uniprotkb": "LAMC2; LAMB2T; LAMNB2", "gene_names_refseq": "B2T; BM600; CSF; EBR2A; EBR2; JEB3A; JEB3B; LAMB2T; LAMC2; LAMNB2", "protein_names_uniprotkb": "Laminin subunit gamma-2; CSF 140 kDa subunit; Cell-scattering factor 140 kDa subunit; Epiligrin subunit gamma; Kalinin subunit gamma; Kalinin/nicein/epiligrin 100 kDa subunit; Ladsin 140 kDa subunit; Laminin B2t chain; Laminin-5 subunit gamma; Large adhesive scatter factor 140 kDa subunit; Nicein subunit gamma", "protein_names_refseq": "BM600-100kDa; CSF 140 kDa subunit; cell-scattering factor 140 kDa subunit; epiligrin subunit gamma; kalinin subunit gamma; ladsin 140 kDa subunit; laminin B2t chain; laminin subunit gamma-2 isoform a precursor; laminin, gamma 2; large adhesive scatter factor 140 kDa subunit; nicein subunit gamma", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); junctional epidermolysis bullosa Herlitz type (Disease Ontology:DOID:0060737); junctional epidermolysis bullosa non-Herlitz type (Disease Ontology:DOID:0060738); junctional epidermolysis bullosa (Disease Ontology:DOID:3209); lung squamous cell carcinoma (Disease Ontology:DOID:3907); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung small cell carcinoma (Disease Ontology:DOID:5409); epidermolysis bullosa, junctional 3A, intermediate (MONDO:MONDO:0030748); epidermolysis bullosa, junctional 3B, severe (MONDO:MONDO:0030749)", "pathway": " (hsa:3918); (R-HSA-1474228); (R-HSA-2022090); (R-HSA-2214320); (R-HSA-3000157); (R-HSA-3000171); (R-HSA-446107); (R-HSA-8874081); (R-HSA-9638630); (R-HSA-9913351); (R-HSA-9925563)", "pathway_count": 11, "publication_count": 176, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10022829;10189375;10229672;10386589;10441321;10521801;10545507;10596943;10637308;10706100;10809722;10811835;10893187;10932245;10942431;10966814;10986281;11054877;11352924;11375993;11430802;11495720;11739641;11810295;11847221;11872628;11964076;11986329;12189167;12237301;12482924;12727852;12802069;12843408;1319059;1383240;1400327;14602708;14973287;15175026;15234972;15265795;15591058;15837520;15958533;16133547;16272566;16413178;1649600;16524571;16563355;16581764;16631740;16782899;16806867;16825321;1698775;1707285;17332331;17354228;17574028;17608959;17905726;18083107;18434311;18599485;18658137;18764929;19010778;19242489;19346169;19571574;19657146;19693541;19714641;19946898;20044576;20142769;20802513;21030783;21297635;21441952;21670566;21784848;21864727;22159078;22159414;22223806;22493504;23035980;2307289;23090970;23584533;23719902;23845380;24190977;24480479;25576301;25813380;26992070;28832583;29093164;29242379;29557506;29741879;29786170;29789417;30779550;3082888;30833945;31154438;31844290;31848261;32157095;32337544;32488085;3282674;33968037;33981976;34171305;34185709;35051231;35318648;35580925;36284347;37074911;37382751;37542131;37640197;38526177;38703300;38760717;3997977;7075587;7509446;7527495;7547873;7547961;7592992;7844150;7925941;8012393;8043271;8054685;8207089;8226919;8265624;8268918;8306988;8349731;8576247;8607994;8626565;8627307;8786121;8798547;8845841;9008168;9065415;9115292;9148753;9214383;9245798;9405466;9412493;9417118;9461298;9645947;9652404;9659899;9659900;9852107;9856810;9864373", "class_list": "", "function": "Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. Ladsin exerts cell-scattering activity toward a wide variety of cells, including epithelial, endothelial, and fibroblastic cells., [UniProtKB, PubMed]; Extracellular matrix marker LAMC2 targets ZEB1 to promote TNBC malignancy via up-regulating CD44/STAT3 signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; LAMC2 promotes EGFR cell membrane localization and acts as a novel biomarker for tyrosine kinase inhibitors (TKIs) sensitivity in lung cancer., [RefSeq, PubMed]; LAMC2 regulates the proliferation, invasion, and metastasis of gastric cancer via PI3K/Akt signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 2. The gamma 2 chain, formerly thought to be a truncated version of beta chain (B2t), is highly homologous to the gamma 1 chain; however, it lacks domain VI, and domains V, IV and III are shorter. It is expressed in several fetal tissues but differently from gamma 1, and is specifically localized to epithelial cells in skin, lung and kidney. The gamma 2 chain together with alpha 3 and beta 3 chains constitute laminin 5 (earlier known as kalinin), which is an integral part of the anchoring filaments that connect epithelial cells to the underlying basement membrane. The epithelium-specific expression of the gamma 2 chain implied its role as an epithelium attachment molecule, and mutations in this gene have been associated with junctional epidermolysis bullosa, a skin disease characterized by blisters due to disruption of the epidermal-dermal junction. Two transcript variants resulting from alternative splicing of the 3' terminal exon, and encoding different isoforms of gamma 2 chain, have been described. The two variants are differentially expressed in embryonic tissues, however, the biological significance of the two forms is not known. Transcript variants utilizing alternative polyA_signal have also been noted in literature. [provided by RefSeq, Aug 2011]., [RefSeq]; LncRNAs-Regulated High Expression of LAMC2 Reveals a Prognostic and Immunological Value in Pancreatic Adenocarcinoma., [RefSeq, PubMed]; Oncogenic Roles of Laminin Subunit Gamma-2 in Intrahepatic Cholangiocarcinoma via Promoting EGFR Translation., [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": 3, "reported_o_glycosites": 0, "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": 3, "total_reported_o_glycosites": 12, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 12, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 38, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 9, "glyco_site_count": 18, "binding_glycan_count": 0, "secondary_ac_list": "Q02536;Q02537;Q13752;Q14941;Q14DF7;Q2M1N2;Q5VYE8", "ec_number_list": "", "go_molecular_function": "GO:0008201 heparin binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005938 cell cortex;GO:0031012 extracellular matrix;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0007155 cell adhesion;GO:0008284 positive regulation of cell population proliferation;GO:0030335 positive regulation of cell migration;GO:0008544 epidermis development", "synthesized_glycan_count": 0, "hit_score": 19.9, "record_id": "Q13753-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15012-1", "uniprot_id": "LAP4A_HUMAN", "mass": 26801.0, "length": 233, "protein_name": "Lysosomal-associated transmembrane protein 4A", "gene_name": "LAPTM4A", "organism": "Human", "refseq_name": "lysosomal-associated transmembrane protein 4A", "refseq_ac": "NP_055528", "gene_names_uniprotkb": "LAPTM4A; KIAA0108; LAPTM4; MBNT; MTRP; PRO3574", "gene_names_refseq": "HUMORF13; LAPTM4A; LAPTM4; MBNT; Mtrp", "protein_names_uniprotkb": "Lysosomal-associated transmembrane protein 4A; Golgi 4-transmembrane-spanning transporter MTP", "protein_names_refseq": "golgi 4-transmembrane-spanning transporter MTP; lysosomal-associated protein transmembrane 4 alpha; lysosomal-associated transmembrane protein 4A; membrane nucleoside transporter", "tax_id": 9606, "disease": "", "pathway": " (hsa:9741)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "12975309;17016520;18083107;19901323;21654843;25732826;27543614;28467828;29242379;29314611;29557506;29632711;30429286;31611695;31844290;32157095;32350084;32357974;32983136;33392160;33592498;33836347;33912179;33968037;34357683;34433824;35051231;35251023;35580925;36215666;36675023;38588560", "class_list": "", "function": "LAPTM4alpha is targeted from the Golgi to late endosomes/lysosomes in a manner dependent on the E3 ubiquitin ligase Nedd4-1 and ESCRT proteins., [RefSeq, PubMed]; May function in the transport of nucleosides and/or nucleoside derivatives between the cytosol and the lumen of an intracellular membrane-bound compartment., [UniProtKB]; New Transcriptomic Biomarkers of 5-Fluorouracil Resistance. Publication Status: Online-Only, [RefSeq, PubMed]; The role of hsa_circ_0042260/miR-4782-3p/LAPTM4A axis in gestational diabetes mellitus., [RefSeq, PubMed]; This gene encodes a protein that has four predicted transmembrane domains. The function of this gene has not yet been determined; however, studies in the mouse homolog suggest a role in the transport of small molecules across endosomal and lysosomal membranes. [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": 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": "Q6UW22", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005765 lysosomal membrane;GO:0031902 late endosome membrane", "go_biological_process": "GO:0097213 regulation of lysosomal membrane permeability", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q15012-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3LHN0-1", "uniprot_id": "KR251_HUMAN", "mass": 11738.0, "length": 102, "protein_name": "Keratin-associated protein 25-1", "gene_name": "KRTAP25-1", "organism": "Human", "refseq_name": "keratin-associated protein 25-1", "refseq_ac": "NP_001122070", "gene_names_uniprotkb": "KRTAP25-1; KAP25.1", "gene_names_refseq": "KAP25.1; KRTAP25-1", "protein_names_uniprotkb": "Keratin-associated protein 25-1", "protein_names_refseq": "keratin-associated protein 25-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:100131902); (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 (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": 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:0005198 structural molecule activity", "go_cellular_component": "GO:0005829 cytosol;GO:0045095 keratin filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q3LHN0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3LHN2-1", "uniprot_id": "KR192_HUMAN", "mass": 5737.0, "length": 52, "protein_name": "Keratin-associated protein 19-2", "gene_name": "KRTAP19-2", "organism": "Human", "refseq_name": "keratin-associated protein 19-2", "refseq_ac": "NP_853639", "gene_names_uniprotkb": "KRTAP19-2; KAP19.2", "gene_names_refseq": "KAP19.2; KRTAP19-2", "protein_names_uniprotkb": "Keratin-associated protein 19-2", "protein_names_refseq": "keratin-associated protein 19-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:337969); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 11, "publication_id_list": "15373777;16382671;1691188;1694855;1714783;17521629;23481192;2414304;24715725;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": "", "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": 1.2, "record_id": "Q3LHN2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3LI62-1", "uniprot_id": "KR204_HUMAN", "mass": 4623.0, "length": 44, "protein_name": "Putative keratin-associated protein 20-4", "gene_name": "KRTAP20-4", "organism": "Human", "refseq_name": "putative keratin-associated protein 20-4", "refseq_ac": "NP_001337906", "gene_names_uniprotkb": "KRTAP20-4; KAP20.4", "gene_names_refseq": "KAP20.4; KRTAP20-4", "protein_names_uniprotkb": "Putative keratin-associated protein 20-4", "protein_names_refseq": "putative keratin-associated protein 20-4", "tax_id": 9606, "disease": "", "pathway": " (hsa:100151643)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "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": 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:0005882 intermediate filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q3LI62-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3LI68-1", "uniprot_id": "KR222_HUMAN", "mass": 5218.0, "length": 45, "protein_name": "Keratin-associated protein 22-2", "gene_name": "KRTAP22-2", "organism": "Human", "refseq_name": "keratin-associated protein 22-2", "refseq_ac": "NP_001157906", "gene_names_uniprotkb": "KRTAP22-2; KAP22.2", "gene_names_refseq": "KAP22.2; KRTAP22-2", "protein_names_uniprotkb": "Keratin-associated protein 22-2", "protein_names_refseq": "keratin-associated protein 22-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:100288287)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "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": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005882 intermediate filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q3LI68-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3LI73-1", "uniprot_id": "KR194_HUMAN", "mass": 9106.0, "length": 84, "protein_name": "Keratin-associated protein 19-4", "gene_name": "KRTAP19-4", "organism": "Human", "refseq_name": "keratin-associated protein 19-4", "refseq_ac": "NP_853641", "gene_names_uniprotkb": "KRTAP19-4; KAP19.4", "gene_names_refseq": "KAP19.4; KRTAP19-4", "protein_names_uniprotkb": "Keratin-associated protein 19-4", "protein_names_refseq": "keratin-associated protein 19-4", "tax_id": 9606, "disease": "", "pathway": " (hsa:337971); (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": 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": "Q17RT4;Q17RT6", "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": "Q3LI73-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3SY46-1", "uniprot_id": "KR133_HUMAN", "mass": 19236.0, "length": 172, "protein_name": "Keratin-associated protein 13-3", "gene_name": "KRTAP13-3", "organism": "Human", "refseq_name": "keratin-associated protein 13-3", "refseq_ac": "NP_853653", "gene_names_uniprotkb": "KRTAP13-3; KAP13.3", "gene_names_refseq": "KAP13.3; KRTAP13-3", "protein_names_uniprotkb": "Keratin-associated protein 13-3", "protein_names_refseq": "keratin-associated protein 13-3", "tax_id": 9606, "disease": "", "pathway": " (hsa:337960); (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 (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": 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": "Q3LI78", "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": "Q3SY46-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q49AS3-1", "uniprot_id": "L37A5_HUMAN", "mass": 12596.0, "length": 106, "protein_name": "Putative protein LRRC37A5P", "gene_name": "LRRC37A5P", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "LRRC37A5P; C9orf29", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative protein LRRC37A5P; Leucine-rich repeat-containing 37 member A5 pseudogene", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "29632046;32161166", "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": "Q5JVP0", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q49AS3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q53H82-1", "uniprot_id": "LACB2_HUMAN", "mass": 32806.0, "length": 288, "protein_name": "Endoribonuclease LACTB2", "gene_name": "LACTB2", "organism": "Human", "refseq_name": "endoribonuclease LACTB2", "refseq_ac": "NP_057111", "gene_names_uniprotkb": "LACTB2; CGI-83", "gene_names_refseq": "CGI-83; LACTB2", "protein_names_uniprotkb": "Endoribonuclease LACTB2; 3.1.27.-; Beta-lactamase-like protein 2", "protein_names_refseq": "beta-lactamase-like protein 2; endoribonuclease LACTB2; testicular secretory protein Li 23", "tax_id": 9606, "disease": "", "pathway": " (hsa:51110)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "20877624;23481700;24715725;25576301;25645385;25823027;26154972;26826708;26992070;27005419;27600516;27846572;27920218;28218747;28228285;28510447;28832583;28904123;29242379;29393594;29437277;29557506;30315122;30429286;31154438;31844290;31848261;31998317;32157095;32938616;33717175;33968037;34019948;34271102;34405274;34932366;35051231;35580925;36010968", "class_list": "", "function": "Disruption of NCOA2 by recurrent fusion with LACTB2 in colorectal cancer, [RefSeq, PubMed]; Endoribonuclease; cleaves preferentially 3' to purine-pyrimidine dinucleotide motifs in single-stranded RNA. The cleavage product contains a free 3' -OH group. Has no activity with double-stranded RNA or DNA. Required for normal mitochondrial function and cell viability., [UniProtKB, PubMed]; LACTB2 renders radioresistance by activating PINK1/Parkin-dependent mitophagy in nasopharyngeal carcinoma., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; This genome-wide study of never smokers from the general population identified two independent regions related to erythrocyte cadmium. The strongest locus covers the XKR9 and LACTB2 genes, which both could have related functions in cadmium absorption and metabolism, [RefSeq, PubMed]; This study discovered that LACTB2 is an endoribonuclease that is involved in the turnover of mitochondrial RNA, and is essential for mitochondrial function in human 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": 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": 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": "A8K2D6;Q9Y392", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0016787 hydrolase activity;GO:0003727 single-stranded RNA binding;GO:0004521 RNA endonuclease activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005794 Golgi apparatus;GO:0005829 cytosol", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q53H82-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5T7N2-1", "uniprot_id": "LITD1_HUMAN", "mass": 98850.0, "length": 865, "protein_name": "LINE-1 type transposase domain-containing protein 1", "gene_name": "L1TD1", "organism": "Human", "refseq_name": "LINE-1 type transposase domain-containing protein 1", "refseq_ac": "NP_001158307", "gene_names_uniprotkb": "L1TD1; ECAT11", "gene_names_refseq": "ECAT11; L1TD1", "protein_names_uniprotkb": "LINE-1 type transposase domain-containing protein 1; ES cell-associated protein 11; Embryonic stem cell-associated protein 11", "protein_names_refseq": "ES cell-associated protein 11; LINE-1 type transposase domain containing 1; LINE-1 type transposase domain-containing protein 1; embryonic stem cell-associated protein 11; embryonic stem cell-associated transcript 11", "tax_id": 9606, "disease": "", "pathway": " (hsa:54596)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "18842996;19664995;21406692;21445976;21559406;22162396;22661428;23179365;23481700;24715725;29557506;29789417;30379171;32522876;32938616;35596537;36503584;36806387;38165001;38253038", "class_list": "", "function": "Dissolution of ribonucleoprotein condensates by the embryonic stem cell protein L1TD1., [RefSeq, PubMed]; Identification and characterization of the long non-coding RNA NFIA-AS2 as a novel locus for body mass index in American Indians., [RefSeq, PubMed]; L1TD1 is a downstream target of Nanog and represents a useful marker for identifying undifferentiated hESC Publication Status: Online-Only, [RefSeq, PubMed]; L1TD1 is part of the L1TD1-RHA-LIN28 complex that could influence levels of OCT4, suggesting that L1TD1 has an important role in the regulation of stemness., [RefSeq, PubMed]; LINE-1 hypomethylation in gastric cancer is associated with shorter survival, suggesting that it has potential for use as a prognostic biomarker., [RefSeq, PubMed]; LINE-1 hypomethylation is associated with poor outcomes in locoregionally advanced oropharyngeal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; LINE-1 hypomethylation is significantly associated with CpG island hypermethylation in EF+ gastritis., [RefSeq, PubMed]; RNA-binding protein which plays a role in the regulation of pluripotency. Preferentially binds to 5'-GAGCGU-3' sequences. Binds to the 3'-UTR of the pluripotency regulator TFCP2L1, stabilizing transcripts and resulting in increased TFCP2L1 mRNA levels., [UniProtKB, UniProtKB]; The differential expression of long interspersed nuclear elements-1 as a marker for hypomethylation in Merkel cell carcinoma., [RefSeq, PubMed]; There was no significant association of LINE-1 methylation with case status, although reduced LINE-1 methylation was associated with increased risk of bladder cancer among never smokers, [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": 16, "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": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q8NDA1;Q9NUV8;Q9NV78", "ec_number_list": "", "go_molecular_function": "GO:0003727 single-stranded RNA binding", "go_cellular_component": "GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0032197 retrotransposition", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q5T7N2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VXI9-1", "uniprot_id": "LIPN_HUMAN", "mass": 45534.0, "length": 398, "protein_name": "Lipase member N", "gene_name": "LIPN", "organism": "Human", "refseq_name": "lipase member N precursor", "refseq_ac": "NP_001095939", "gene_names_uniprotkb": "LIPN; LIPL4", "gene_names_refseq": "ARCI8; LI4; LIPL4; LIPN; bA186O14.3", "protein_names_uniprotkb": "Lipase member N; 3.1.1.13; 3.1.1.3; Lipase-like abhydrolase domain-containing protein 4", "protein_names_refseq": "lipase member N precursor; lipase-like abhydrolase domain-containing protein 4", "tax_id": 9606, "disease": "autosomal recessive congenital ichthyosis 8 (Disease Ontology:DOID:0060717)", "pathway": " (hsa:643418); (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;16061697;16639001;17515931;17562024;17596512;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21439340;21439540;21654840;21997417;23629652;25926655;26390218;26992070;29769354;31844290;32350084;33141586;33936100;35051231;7543090;8824274;8999895;9395522;9565599", "class_list": "", "function": "Describe a late-onset form of recessive ichthyosis in a large consanguineous pedigree with a 2 bp deletion in LIPN that segregated with the disease phenotype throughout the family, [RefSeq, PubMed]; Plays a highly specific role in the last step of keratinocyte differentiation. Contains two distinct domains: the alpha/beta hydrolase fold and the abhydrolase-associated lipase region, also features the consensus sequence of the active site of a genuine lipase. May have an essential function in lipid metabolism of the most differentiated epidermal layers., [UniProtKB, PubMed]; The gene encodes a lipase that is highly expressed in granular keratinocytes in the epidermis, and plays a role in the differentiation of keratinocytes. Mutations in this gene are associated with lamellar ichthyosis type 4. [provided by RefSeq, Dec 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "A7KIH9", "ec_number_list": "3.1.1.-;3.1.1.3;3.1.1.32;3.1.1.34;3.1.1.23;3.1.1.79;3.1.1.6;3.1.1.5;3.1.1.13;3.1.1.1;3.1.1.56;3.1.1.4;3.1.1.26;3.1.1.71;3.1.1.116;2.3.1.51", "go_molecular_function": "GO:0004771 sterol ester esterase activity;GO:0016298 lipase activity;GO:0004465 lipoprotein lipase activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0016042 lipid catabolic process;GO:0070268 cornification", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q5VXI9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VYY2-1", "uniprot_id": "LIPM_HUMAN", "mass": 48233.0, "length": 423, "protein_name": "Lipase member M", "gene_name": "LIPM", "organism": "Human", "refseq_name": "lipase member M precursor", "refseq_ac": "NP_001121687", "gene_names_uniprotkb": "LIPM; LIPL3", "gene_names_refseq": "LIPL3; LIPM; bA304I5.1", "protein_names_uniprotkb": "Lipase member M; 3.1.1.-; Lipase-like abhydrolase domain-containing protein 3", "protein_names_refseq": "lipase M; lipase member M precursor; lipase member M; lipase-like abhydrolase domain-containing protein 3; lipase-like, ab-hydrolase domain containing 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:340654); (R-HSA-6809371)", "pathway_count": 2, "publication_count": 41, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11350120;11380615;11590230;12902340;15033990;15337775;15797384;15803139;16061697;16639001;17515931;17562024;17596512;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23629652;24715725;25926655;26390218;31848261;34087483;35051231;7543090;8824274;8999895;9395522;9565599", "class_list": "", "function": "Plays a highly specific role in the last step of keratinocyte differentiation. May have an essential function in lipid metabolism of the most differentiated epidermal layers., [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A6PVS3;B2RXK7;B5MCR3", "ec_number_list": "3.1.1.13;3.1.1.3;3.1.1.-", "go_molecular_function": "GO:0016298 lipase activity;GO:0004465 lipoprotein lipase activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0016042 lipid catabolic process;GO:0070268 cornification", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q5VYY2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6L8G5-1", "uniprot_id": "KR510_HUMAN", "mass": 17984.0, "length": 202, "protein_name": "Keratin-associated protein 5-10", "gene_name": "KRTAP5-10", "organism": "Human", "refseq_name": "keratin-associated protein 5-10", "refseq_ac": "NP_001012728", "gene_names_uniprotkb": "KRTAP5-10; KAP5.10; KRTAP5.10", "gene_names_refseq": "KRTAP5-10; KRTAP5.10", "protein_names_uniprotkb": "Keratin-associated protein 5-10; Keratin-associated protein 5.10; Ultrahigh sulfur keratin-associated protein 5.10", "protein_names_refseq": "keratin-associated protein 5-10; keratin-associated protein 5.10; ultrahigh sulfur keratin-associated protein 5.10", "tax_id": 9606, "disease": "", "pathway": " (hsa:387273); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 11, "publication_id_list": "15144888;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 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": 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": "B9EHA4", "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": 1.2, "record_id": "Q6L8G5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6L8H4-1", "uniprot_id": "KRA51_HUMAN", "mass": 24194.0, "length": 278, "protein_name": "Keratin-associated protein 5-1", "gene_name": "KRTAP5-1", "organism": "Human", "refseq_name": "keratin-associated protein 5-1", "refseq_ac": "NP_001005922", "gene_names_uniprotkb": "KRTAP5-1; KAP5.1; KRN1L; KRTAP5.1", "gene_names_refseq": "KRN1L; KRTAP5-1; KRTAP5.1", "protein_names_uniprotkb": "Keratin-associated protein 5-1; Keratin, cuticle, ultrahigh sulphur 1-like; Keratin-associated protein 5.1; Ultrahigh sulfur keratin-associated protein 5.1", "protein_names_refseq": "keratin-associated protein 5-1; keratin-associated protein 5.1; ultrahigh sulfur keratin-associated protein 5.1", "tax_id": 9606, "disease": "", "pathway": " (hsa:387264); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 13, "publication_id_list": "12234709;15144888;15373777;16382671;16442267;1691188;1694855;1714783;17521629;23481192;2414304;25208914;9468612", "class_list": "", "function": "A novel mutation designated as E477K of K1 was identified in epidermolytic hyperkeratosis., [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]; KAP5 gene expression in human hair follicles is regulated by Runx1, [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": 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": "", "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": 1.4, "record_id": "Q6L8H4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZV70-1", "uniprot_id": "LANC3_HUMAN", "mass": 46319.0, "length": 420, "protein_name": "LanC-like protein 3", "gene_name": "LANCL3", "organism": "Human", "refseq_name": "lanC-like protein 3 isoform 2", "refseq_ac": "NP_001163802", "gene_names_uniprotkb": "LANCL3", "gene_names_refseq": "LANCL3", "protein_names_uniprotkb": "LanC-like protein 3", "protein_names_refseq": "LanC lantibiotic synthetase component C-like 3; LanC like 3; lanC-like protein 3 isoform 2; lanC-like protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:347404)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "32387766;32983136;33968037;33981976;34185709;35051231;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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "A6NHE3", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0005975 carbohydrate metabolic process;GO:0031179 peptide modification", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q6ZV70-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86WI0-1", "uniprot_id": "LHPL1_HUMAN", "mass": 23777.0, "length": 220, "protein_name": "LHFPL tetraspan subfamily member 1 protein", "gene_name": "LHFPL1", "organism": "Human", "refseq_name": "LHFPL tetraspan subfamily member 1 protein precursor", "refseq_ac": "NP_835469", "gene_names_uniprotkb": "LHFPL1; PRO19643", "gene_names_refseq": "LHFPL1", "protein_names_uniprotkb": "LHFPL tetraspan subfamily member 1 protein; Lipoma HMGIC fusion partner-like 1 protein", "protein_names_refseq": "LHFP-like protein 1; LHFPL tetraspan subfamily member 1 protein precursor; LHFPL tetraspan subfamily member 1 protein; lipoma HMGIC fusion partner like 1; lipoma HMGIC fusion partner-like 1 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:340596)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "12975309;15620218;15905332;28832583;29557506;32157095", "class_list": "", "function": "Expressed widely in ER of all tissues, especially highly in lung, thymus, skeleton muscle, colon and ovary., [RefSeq, PubMed]; The authors present an overview of the LHFP gene family in mouse and humans, [RefSeq, PubMed]; This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [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": 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": "A8K1N1;Q496M9;Q496N0;Q6UXU2", "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": "Q86WI0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86YQ2-1", "uniprot_id": "LATH_HUMAN", "mass": 19456.0, "length": 179, "protein_name": "Putative BPIFA4P protein", "gene_name": "BPIFA4P", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "BPIFA4P; BASE; LATH", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative BPIFA4P protein; BPI fold containing family A, member 4, pseudogene; Breast cancer and salivary gland-expressed protein; Putative latherin", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "12538848;29242379;31530632", "class_list": "", "function": "Major protein in sweat, has surfactant properties., [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:0008289 lipid binding", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0043129 surfactant homeostasis", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q86YQ2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IUC0-1", "uniprot_id": "KR131_HUMAN", "mass": 18320.0, "length": 172, "protein_name": "Keratin-associated protein 13-1", "gene_name": "KRTAP13-1", "organism": "Human", "refseq_name": "keratin-associated protein 13-1", "refseq_ac": "NP_853630", "gene_names_uniprotkb": "KRTAP13-1; KAP13.1; KRTAP13.1", "gene_names_refseq": "KAP13.1; KRTAP13-1; KRTAP13.1", "protein_names_uniprotkb": "Keratin-associated protein 13-1; High sulfur keratin-associated protein 13.1", "protein_names_refseq": "high sulfur keratin associated protein 13.1; keratin-associated protein 13-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:140258); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 11, "publication_id_list": "12359730;15373777;16382671;1691188;1694855;1714783;17521629;23481192;2414304;25208914;9468612", "class_list": "", "function": "Hair keratins and hair keratin-associated proteins (KAPs), such as KRTAP13-1, are the main structural proteins of hair fibers (Rogers et al., 2002 [PubMed 12359730]).[supplied by OMIM, Mar 2008]., [RefSeq]; 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": 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": "Q14D20;Q3LI79", "ec_number_list": "", "go_molecular_function": "GO:0005198 structural molecule activity", "go_cellular_component": "GO:0005829 cytosol;GO:0045095 keratin filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q8IUC0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NES3-1", "uniprot_id": "LFNG_HUMAN", "mass": 41773.0, "length": 379, "protein_name": "Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe", "gene_name": "LFNG", "organism": "Human", "refseq_name": "beta-1,3-N-acetylglucosaminyltransferase lunatic fringe isoform a", "refseq_ac": "NP_001035257", "gene_names_uniprotkb": "LFNG", "gene_names_refseq": "LFNG; SCDO3", "protein_names_uniprotkb": "Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe; 2.4.1.222; O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase", "protein_names_refseq": "beta-1,3-N-acetylglucosaminyltransferase lunatic fringe isoform a; beta-1,3-N-acetylglucosaminyltransferase lunatic fringe", "tax_id": 9606, "disease": "spondylocostal dysostosis 3 (Disease Ontology:DOID:0112361)", "pathway": " (hsa:3955); (R-HSA-1912420); (R-HSA-5083630); (R-HSA-9824272); (R-HSA-9831926)", "pathway_count": 5, "publication_count": 60, "publication_id_list": "10.1101/2023.09.13.557529;10075724;10366590;10459009;10545110;10669757;10734111;10935626;10935637;11135303;11346656;11530204;11707585;12049766;12110169;1295745;16385447;1764995;18485326;19701457;20170518;20197277;21097675;22299025;23090970;24190977;24715725;25576301;28178531;28832583;29242379;29314611;29393594;29493099;29632711;29741879;30531807;30626607;31154438;31844290;32161166;32938616;32983136;33043033;33562410;33592498;33894418;33936100;33968037;34357683;35051231;37038048;7918097;8293978;8681805;9187150;9207795;9244302;9653148;9727485", "class_list": "glycogene;glycosyltransferase", "function": "Bioinformatics and Functional Analyses Implicate Potential Roles for EOGT and L-fringe in Pancreatic Cancers. Publication Status: Online-Only, [RefSeq, PubMed]; Glycosyltransferase that initiates the elongation of O-linked fucose residues attached to EGF-like repeats in the extracellular domain of Notch molecules. Modulates NOTCH1 activity by modifying O-fucose residues at specific EGF-like domains resulting in inhibition of NOTCH1 activation by JAG1 and enhancement of NOTCH1 activation by DLL1 via an increase in its binding to DLL1 (By similarity). Decreases the binding of JAG1 to NOTCH2 but not that of DLL1 (PubMed:11346656). Essential mediator of somite segmentation and patterning (By similarity)., [UniProtKB, UniProtKB, PubMed]; Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3., [RefSeq, PubMed]; LFNG mutation is associated with spondylocostal dysostosis., [RefSeq, PubMed]; Lunatic fringe promotes the aggregation of CADASIL NOTCH3 mutant proteins., [RefSeq, PubMed]; This gene is a member of the glycosyltransferase 31 gene family. Members of this gene family, which also includes the MFNG (GeneID: 4242) and RFNG (GeneID: 5986) genes, encode evolutionarily conserved glycosyltransferases that act in the Notch signaling pathway to define boundaries during embryonic development. While their genomic structure is distinct from other glycosyltransferases, these proteins have a fucose-specific beta-1,3-N-acetylglucosaminyltransferase activity that leads to elongation of O-linked fucose residues on Notch, which alters Notch signaling. The protein encoded by this gene is predicted to be a single-pass type II Golgi membrane protein but it may also be secreted and proteolytically processed like the related proteins in mouse and Drosophila (PMID: 9187150). Mutations in this gene have been associated with autosomal recessive spondylocostal dysostosis 3. [provided by RefSeq, May 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": 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": 519, "reported_interactions": 0, "missing_score": 8686, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KTY6;B5MCR5;O00589;Q96C39;Q9UJW5", "ec_number_list": "2.4.1.222", "go_molecular_function": "GO:0046872 metal ion binding;GO:0033829 O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:1903561 extracellular vesicle", "go_biological_process": "GO:0009887 animal organ morphogenesis;GO:0001756 somitogenesis;GO:0014807 regulation of somitogenesis;GO:0030217 T cell differentiation;GO:0002315 marginal zone B cell differentiation", "synthesized_glycan_count": 19, "hit_score": 6.4, "record_id": "Q8NES3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q969E1-1", "uniprot_id": "LEAP2_HUMAN", "mass": 8814.0, "length": 77, "protein_name": "Liver-expressed antimicrobial peptide 2", "gene_name": "LEAP2", "organism": "Human", "refseq_name": "liver-expressed antimicrobial peptide 2 precursor", "refseq_ac": "NP_443203", "gene_names_uniprotkb": "LEAP2", "gene_names_refseq": "LEAP-2; LEAP2", "protein_names_uniprotkb": "Liver-expressed antimicrobial peptide 2; LEAP-2", "protein_names_refseq": "liver-expressed antimicrobial peptide 2 precursor; liver-expressed antimicrobial peptide 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:116842); (R-HSA-6803157)", "pathway_count": 2, "publication_count": 66, "publication_id_list": "11120840;11313366;11389039;11971875;12493837;13816;14506276;14739326;1522221;15229136;15778384;15826377;15956276;16054449;16215847;16336202;16354652;16354654;16374474;16799473;16931762;16940129;17363965;17502600;17567961;17964057;18021746;18160480;18185531;18673279;19095652;19179970;19254208;19818633;19852990;20038463;20103720;20180804;20382864;20395631;20510021;20845358;21787330;22262861;22327069;22455996;22701042;23302724;23426625;24219363;24256734;25075772;25461571;25596890;26148048;27089320;27335344;3286634;33966114;33991145;36076912;37436962;39331742;9523110;9665269;9756476", "class_list": "", "function": "Data suggest that LEAP-2 is not involved in the physiological response of GI epithelia to iron, nor is it mitogenic for epithelial cells or chemotactic for THP-1 monocytes., [RefSeq, PubMed]; Has an antimicrobial activity., [UniProtKB, PubMed]; LEAP-2 has a novel fold for a cationic antimicrobial peptide and has antibacterial activity. LEAP-2 exhibits antimicrobial activity under low-salt conditions, and there is likely to be another physiological role for the peptide. GeneRIF: LEAP-2 displays antimicrobial activity against bacteria and yeasts., [RefSeq, PubMed]; LEAP-2/ghrelin interplay in adult growth hormone deficiency: Cause or consequence? A pilot study., [RefSeq, PubMed]; LEAP2 has antagonized the ghrelin receptor GHSR1a since its emergence in ancient fish., [RefSeq, PubMed]; LEAP2 is associated with cardiometabolic markers but is unchanged by antidiabetic treatment in people with prediabetes., [RefSeq, PubMed]; Study of the Ghrelin/LEAP-2 Ratio in Humans and Rats during Different Phases of Pregnancy. Publication Status: Online-Only, [RefSeq, PubMed]; The LEAP2 Response to Cancer-Related Anorexia-Cachexia Syndrome in Male Mice and Patients., [RefSeq, PubMed]; These results show that the secondary structure of human LEAP-2 has a profound impact on its antibacterial activity., [RefSeq, PubMed]; This gene encodes a cysteine-rich cationic antimicrobial peptide that is expressed predominantly in the liver. The mature peptide has activity against gram-positive bacteria and yeasts. [provided by RefSeq, Sep 2014]., [RefSeq]; We identified the amphibian leap2 gene which is highly related to its mammalian orthologues at both structural and sequence levels. The gene is expressed in the embryo mostly in the endoderm-derived tissues. Accordingly it is induced in pluripotent animal cap cells by FGF, activin or a combination of vegT/beta-catenin., [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": "D3DQ91", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0042742 defense response to bacterium", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q969E1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BYP9-1", "uniprot_id": "KRA99_HUMAN", "mass": 16266.0, "length": 154, "protein_name": "Keratin-associated protein 9-9", "gene_name": "KRTAP9-9", "organism": "Human", "refseq_name": "keratin-associated protein 9-9 isoform KRTAP9.9", "refseq_ac": "NP_001305156", "gene_names_uniprotkb": "KRTAP9-9; KAP9.5; KAP9.9; KRTAP9-5; KRTAP9.5; KRTAP9.9", "gene_names_refseq": "KAP9.5; KAP9.9; KRTAP9-5; KRTAP9-9; KRTAP9.9", "protein_names_uniprotkb": "Keratin-associated protein 9-9; Keratin-associated protein 9-5; Keratin-associated protein 9.5; Keratin-associated protein 9.9; Ultrahigh sulfur keratin-associated protein 9.9", "protein_names_refseq": "keratin-associated protein 9-5; keratin-associated protein 9-9 isoform KRTAP9.9; keratin-associated protein 9.5; ultrahigh sulfur keratin-associated protein 9.9", "tax_id": 9606, "disease": "", "pathway": " (hsa:81870); (R-HSA-6805567)", "pathway_count": 2, "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., [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. Alternative haplotypes of this gene are represented in the GRCh38 reference genome assembly. [provided by RefSeq, Dec 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": 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": "B5MDD6;Q9BYQ1", "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": "Q9BYP9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BYQ5-1", "uniprot_id": "KRA46_HUMAN", "mass": 21825.0, "length": 205, "protein_name": "Keratin-associated protein 4-6", "gene_name": "KRTAP4-6", "organism": "Human", "refseq_name": "keratin-associated protein 4-6", "refseq_ac": "NP_112238", "gene_names_uniprotkb": "KRTAP4-6; KAP4.15; KRTAP4-15; KRTAP4.15; KRTAP4.6", "gene_names_refseq": "KAP4.15; KAP4.6; KRTAP4-15; KRTAP4-6; KRTAP4.15", "protein_names_uniprotkb": "Keratin-associated protein 4-6; Keratin-associated protein 4-15; Keratin-associated protein 4.15; Keratin-associated protein 4.6; Ultrahigh sulfur keratin-associated protein 4.15", "protein_names_refseq": "keratin associated protein 4-15; keratin-associated protein 4-6; keratin-associated protein 4.6; ultrahigh sulfur keratin-associated protein 4.15", "tax_id": 9606, "disease": "", "pathway": " (hsa:81871); (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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 14, "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": "Q9BYR1", "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": "Q9BYQ5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BYQ7-1", "uniprot_id": "KRA41_HUMAN", "mass": 15241.0, "length": 146, "protein_name": "Keratin-associated protein 4-1", "gene_name": "KRTAP4-1", "organism": "Human", "refseq_name": "keratin-associated protein 4-1 isoform 1", "refseq_ac": "NP_001373770", "gene_names_uniprotkb": "KRTAP4-1; KAP4.10; KRTAP4-10; KRTAP4.10; KRTAP4.1", "gene_names_refseq": "KAP4.10; KAP4.1; KRTAP4-10; KRTAP4-1; KRTAP4.10", "protein_names_uniprotkb": "Keratin-associated protein 4-1; Keratin-associated protein 4-10; Keratin-associated protein 4.10; Keratin-associated protein 4.1; Ultrahigh sulfur keratin-associated protein 4.10", "protein_names_refseq": "keratin associated protein 4-10; keratin-associated protein 4-1 isoform 1; ultrahigh sulfur keratin-associated protein 4.10", "tax_id": 9606, "disease": "", "pathway": " (hsa:85285); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 13, "publication_id_list": "11279113;15373777;15955084;16382671;1691188;1694855;1714783;17521629;23481192;2414304;25208914;37217939;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, 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": 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": "A8MWS7;Q3SYF2", "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": 1.6, "record_id": "Q9BYQ7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HBX8-3", "uniprot_id": "LGR6_HUMAN", "mass": 104298.0, "length": 967, "protein_name": "Leucine-rich repeat-containing G protein-coupled receptor 6", "gene_name": "LGR6", "organism": "Human", "refseq_name": "leucine-rich repeat-containing G-protein coupled receptor 6 isoform 1 precursor", "refseq_ac": "NP_001017403", "gene_names_uniprotkb": "LGR6; PRO21331; VTS20631", "gene_names_refseq": "GPCR; LGR6; VTS20631", "protein_names_uniprotkb": "Leucine-rich repeat-containing G protein-coupled receptor 6", "protein_names_refseq": "gonadotropin receptor; leucine-rich repeat-containing G-protein coupled receptor 6 isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:59352); (R-HSA-4641263)", "pathway_count": 2, "publication_count": 29, "publication_id_list": "10935549;12044878;12975309;16109882;16357527;16959974;17400545;17525332;17804805;20495530;21693646;21727895;21909076;22575959;22615920;23847203;25576301;25645385;32938616;33592498;33912179;34171305;34185709;34494532;34943945;35051231;37770230;37802707;38014454", "class_list": "", "function": "DNA methylation and expression of LGR6 gene in ankylosing spondylitis: A case-control study., [RefSeq, PubMed]; Increased LGR6 Expression Sustains Long-Term Wnt Activation and Acquisition of Senescence in Epithelial Progenitors in Chronic Lung Diseases. Publication Status: Online-Only, [RefSeq, PubMed]; Overexpression of wild-type LGR6 in HeLa cells leads to increased cell migration., [RefSeq, PubMed]; Receptor for R-spondins that potentiates the canonical Wnt signaling pathway and acts as a marker of multipotent stem cells in the epidermis. Upon binding to R-spondins (RSPO1, RSPO2, RSPO3 or RSPO4), associates with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. In contrast to classical G protein-coupled receptors, does not activate heterotrimeric G proteins to transduce the signal. May act as a tumor suppressor., [UniProtKB, PubMed, PubMed]; The oncogenic role of LGR6 overexpression induced by aberrant Wnt/beta-catenin signaling in lung cancer., [RefSeq, PubMed]; This gene encodes a member of the leucine-rich repeat-containing subgroup of the G protein-coupled 7-transmembrane protein superfamily. The encoded protein is a glycoprotein hormone receptor with a large N-terminal extracellular domain that contains leucine-rich repeats important for the formation of a horseshoe-shaped interaction motif for ligand binding. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]., [RefSeq]; WNT enhancing signals in pancreatic cancer are transmitted by LGR6., [RefSeq, PubMed]; [Expression and Significance of Leucine-rich Repeat-containing G-protein Coupled Receptor 5/6 in Wnt Pathway in Children with Acute Lymphoblastic Leukemia]., [RefSeq, PubMed]", "predicted_glycosites": 5, "predicted_n_glycosites": 2, "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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 37, "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": "Q5T509;Q5T512;Q6UY15;Q86VU0;Q96K69;Q9BYD7", "ec_number_list": "", "go_molecular_function": "GO:0016500 protein-hormone receptor activity;GO:0004888 transmembrane signaling receptor activity;GO:0008201 heparin binding;GO:0048495 Roundabout binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0032588 trans-Golgi network membrane;GO:0031982 vesicle", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0030335 positive regulation of cell migration;GO:0016055 Wnt signaling pathway;GO:0090263 positive regulation of canonical Wnt signaling pathway;GO:0050919 negative chemotaxis", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q9HBX8-3", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NPI7-1", "uniprot_id": "KRCC1_HUMAN", "mass": 30980.0, "length": 259, "protein_name": "Lysine-rich coiled-coil protein 1", "gene_name": "KRCC1", "organism": "Human", "refseq_name": "lysine-rich coiled-coil protein 1", "refseq_ac": "NP_001291455", "gene_names_uniprotkb": "KRCC1; BM-003; BM-044; CHBP2", "gene_names_refseq": "CHBP2; HLY; KRCC1", "protein_names_uniprotkb": "Lysine-rich coiled-coil protein 1; Cryptogenic hepatitis-binding protein 2; HLY", "protein_names_refseq": "cryptogenic hepatitis-binding protein 2; lysine-rich coiled-coil protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:51315)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "23481700;24714562;25418920;26154972;26728094;26811146;26929215;26992070;27862975;28063628;28832583;28904123;29242379;29351065;29393594;29557506;29632046;29632711;30429286;30779550;31154438;31165984;31844290;31848261;31908025;32265295;32387766;32488085;32502341;32983136;33392160;33592498;33912179;34932366;35051231;35561310;35580925;36243983", "class_list": "", "function": "By observing the data obtained from the isothermal titration calorimetry assay, both of the human proteins (KRCC1 and ZFAND6) were demonstrated to bind to their respective Toxoplasma gondii SAG1 and SAG2 proteins., [RefSeq, PubMed]; KRCC1: A potential therapeutic target in ovarian cancer., [RefSeq, PubMed]; Regulates CHEK1-mediated cell cycle checkpoint (PubMed:36243983). Facilitates efficient recombination and homologous recombination repair (PubMed:36243983). Required for proper S-phase progression and mitotic entry (PubMed:36243983)., [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": 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": "Q3B7J7", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006974 DNA damage response", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q9NPI7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UN81-1", "uniprot_id": "LORF1_HUMAN", "mass": 40056.0, "length": 338, "protein_name": "LINE-1 retrotransposable element ORF1 protein", "gene_name": "L1RE1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "L1RE1; LRE1", "gene_names_refseq": "", "protein_names_uniprotkb": "LINE-1 retrotransposable element ORF1 protein; L1ORF1p; LINE retrotransposable element 1; LINE1 retrotransposable element 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 28, "publication_id_list": "10401005;10655552;11158327;16183655;17562864;19139409;21822284;21937507;23093941;26154972;26992070;27428332;27862975;28806172;30122351;32157095;32561536;32938616;33298915;33592498;33691108;33968037;34087483;34211107;35051231;35494241;35675780;8945518", "class_list": "", "function": "Nucleic acid-binding protein which is essential for retrotransposition of LINE-1 elements in the genome. Functions as a nucleic acid chaperone binding its own transcript and therefore preferentially mobilizing the transcript from which they are encoded., [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": 1, "reported_mutagensis": 27, "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": "Q15605", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0000166 nucleotide binding;GO:0003727 single-stranded RNA binding;GO:0003697 single-stranded DNA binding", "go_cellular_component": "GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0036464 cytoplasmic ribonucleoprotein granule;GO:0010494 cytoplasmic stress granule;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0032197 retrotransposition", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q9UN81-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y693-1", "uniprot_id": "LHPL6_HUMAN", "mass": 21598.0, "length": 200, "protein_name": "LHFPL tetraspan subfamily member 6 protein", "gene_name": "LHFPL6", "organism": "Human", "refseq_name": "LHFPL tetraspan subfamily member 6 protein", "refseq_ac": "NP_005771", "gene_names_uniprotkb": "LHFPL6; LHFP", "gene_names_refseq": "LHFPL6; LHFP", "protein_names_uniprotkb": "LHFPL tetraspan subfamily member 6 protein; Lipoma HMGIC fusion partner", "protein_names_refseq": "LHFPL tetraspan subfamily member 6 protein; lipoma HMGIC fusion partner", "tax_id": 9606, "disease": "", "pathway": " (hsa:10186)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "10329012;15905332;22299025;22538188;29557506;31848261;34357683", "class_list": "", "function": "Amplification of the LHFP gene is associated with mesenchymal differentiation in gliosarcoma., [RefSeq, PubMed]; The authors present an overview of the LHFP gene family in mouse and humans, [RefSeq, PubMed]; This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. This gene is fused to a high-mobility group gene in a translocation-associated lipoma. Mutations in another LHFP-like gene result in deafness in humans and mice. Alternatively spliced transcript variants have been found; however, their full-length nature is not known. [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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R7M2;Q53FC0;Q96SH5", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q9Y693-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A075B6I0-1", "uniprot_id": "LV861_HUMAN", "mass": 12814.0, "length": 122, "protein_name": "Immunoglobulin lambda variable 8-61", "gene_name": "IGLV8-61", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "IGLV8-61", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin lambda variable 8-61", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "11872955;17576170;20176268;22158414;24600447", "class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). 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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 402, "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": 0.6, "record_id": "A0A075B6I0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A075B6K2-1", "uniprot_id": "LV312_HUMAN", "mass": 12387.0, "length": 115, "protein_name": "Immunoglobulin lambda variable 3-12", "gene_name": "IGLV3-12", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "IGLV3-12", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin lambda variable 3-12", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "11872955;17576170;20176268;22158414;24600447;32157095", "class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). 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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 306, "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": 0.7, "record_id": "A0A075B6K2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A0B4J1U3-1", "uniprot_id": "LV136_HUMAN", "mass": 12478.0, "length": 117, "protein_name": "Immunoglobulin lambda variable 1-36", "gene_name": "IGLV1-36", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "IGLV1-36", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin lambda variable 1-36", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "11872955;17576170;20176268;22158414;24600447;35051231", "class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). 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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 271, "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": 0.7, "record_id": "A0A0B4J1U3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IYG6-1", "uniprot_id": "LRC56_HUMAN", "mass": 58733.0, "length": 542, "protein_name": "Leucine-rich repeat-containing protein 56", "gene_name": "LRRC56", "organism": "Human", "refseq_name": "leucine-rich repeat-containing protein 56 isoform 1", "refseq_ac": "NP_932341", "gene_names_uniprotkb": "LRRC56", "gene_names_refseq": "CILD39; DNAAF12; LRRC56; oda8", "protein_names_uniprotkb": "Leucine-rich repeat-containing protein 56", "protein_names_refseq": "dynein axonemal assembly factor 12; leucine-rich repeat-containing protein 56 isoform 1; leucine-rich repeat-containing protein 56", "tax_id": 9606, "disease": "primary ciliary dyskinesia 39 (Disease Ontology:DOID:0111854)", "pathway": " (hsa:115399)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "20058876;30388400;30620550;33298915;35051231", "class_list": "", "function": "Required for the assembly of dynein arms., [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": 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": "Q8N3Q4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005929 cilium", "go_biological_process": "GO:0030030 cell projection organization", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8IYG6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A1Z1Q3-2", "uniprot_id": "MACD2_HUMAN", "mass": 47421.0, "length": 425, "protein_name": "ADP-ribose glycohydrolase MACROD2", "gene_name": "MACROD2", "organism": "Human", "refseq_name": "ADP-ribose glycohydrolase MACROD2 isoform 2", "refseq_ac": "NP_001028259", "gene_names_uniprotkb": "MACROD2; C20orf133", "gene_names_refseq": "C20orf133; C2orf133; MACROD2", "protein_names_uniprotkb": "ADP-ribose glycohydrolase MACROD2; 3.2.2.-; 3.5.1.-; MACRO domain-containing protein 2; O-acetyl-ADP-ribose deacetylase MACROD2; [Protein ADP-ribosylaspartate] hydrolase MACROD2; [Protein ADP-ribosylglutamate] hydrolase MACROD2", "protein_names_refseq": "ADP-ribose glycohydrolase MACROD2 isoform 2; ADP-ribose glycohydrolase MACROD2; MACRO domain containing 2; MACRO domain-containing protein 2; O-acetyl-ADP-ribose deacetylase MACROD2; [Protein ADP-ribosylaspartate] hydrolase MACROD2; [Protein ADP-ribosylglutamate] hydrolase MACROD2; [Protein ADP-ribosylglutamate] hydrolase", "tax_id": 9606, "disease": "", "pathway": " (hsa:140733)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "17586838;18593871;18655026;18987618;21257746;23474712;23474714;29557506;31599159;33191407;33624934;35051231;35759225;36008642;37108169", "class_list": "", "function": "A 250 kb de novo microdeletion at 20p12.1, deleting exon 5 of C20orf133, was seen in a Kabuki syndrome case. The de novo deletion, the expression data & the fact that C20orf133 has a macro domain make it a likely candidate to cause KS in this patient., [RefSeq, PubMed]; Association of MACROD2 gene variants with obesity and physical activity in a Korean population., [RefSeq, PubMed]; Association of the MACROD2 rs6110695 A>G polymorphism with an increasing WBC count in a Korean population., [RefSeq, PubMed]; Authors describe the results of a deletion assay for the exon 5 in C20orf133 and a mutation analysis of C20orf133 and FLRT3 in patients with Kabuki Syndrome. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Genome-Wide Meta-Analysis Identifies Multiple Novel Rare Variants to Predict Common Human Infectious Diseases Risk. Publication Status: Online-Only, [RefSeq, PubMed]; Human papilloma virus (HPV) integration signature in Cervical Cancer: identification of MACROD2 gene as HPV hot spot integration site. Erratum:[Br J Cancer. 2023 May;128(9):1790. doi: 10.1038/s41416-023-02261-7. PMID: 37055522], [RefSeq, PubMed]; Human papillomavirus (HPV) integration signature in cervical lesions: identification of MACROD2 gene as HPV hot spot integration site., [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Removes ADP-ribose from aspartate and glutamate residues in proteins bearing a single ADP-ribose moiety (PubMed:23474712, PubMed:23474714). Inactive towards proteins bearing poly-ADP-ribose (PubMed:23474712, PubMed:23474714). Deacetylates O-acetyl-ADP ribose, a signaling molecule generated by the deacetylation of acetylated lysine residues in histones and other proteins (PubMed:21257746)., [UniProtKB, PubMed, PubMed, PubMed]; The protein encoded by this gene is a deacetylase involved in removing ADP-ribose from mono-ADP-ribosylated proteins. The encoded protein has been shown to translocate from the nucleus to the cytoplasm upon DNA damage. [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": 0, "reported_mutagensis": 5, "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": "A6NFF7;B0QZ39;B3KWV0;Q0P6D5;Q495E0;Q5W199;Q6ZN71", "ec_number_list": "3.5.1.-;3.2.2.-;3.2.2.19;3.1.1.106;3.2.1.143", "go_molecular_function": "GO:0019213 deacetylase activity;GO:0016798 hydrolase activity, acting on glycosyl bonds;GO:0061463 O-acetyl-ADP-ribose deacetylase activity;GO:0140293 ADP-ribosylglutamate hydrolase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus", "go_biological_process": "GO:0006974 DNA damage response;GO:0007420 brain development;GO:0051725 protein de-ADP-ribosylation;GO:0042278 purine nucleoside metabolic process;GO:0140291 peptidyl-glutamate ADP-deribosylation", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "A1Z1Q3-2", "record_type": "protein" }, { "uniprot_canonical_ac": "Q50LG9-1", "uniprot_id": "LRC24_HUMAN", "mass": 55257.0, "length": 513, "protein_name": "Leucine-rich repeat-containing protein 24", "gene_name": "LRRC24", "organism": "Human", "refseq_name": "leucine-rich repeat-containing protein 24 precursor", "refseq_ac": "NP_001019849", "gene_names_uniprotkb": "LRRC24", "gene_names_refseq": "LRRC14OS; LRRC24", "protein_names_uniprotkb": "Leucine-rich repeat-containing protein 24", "protein_names_refseq": "leucine-rich repeat-containing protein 24 precursor; leucine-rich repeat-containing protein 24", "tax_id": 9606, "disease": "", "pathway": " (hsa:441381)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "10.1101/2023.09.13.557529;11237011;28228285;29557506;29789417;32350084;32357974;35051231;35251023", "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": 1, "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": 14, "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:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0051965 positive regulation of synapse assembly", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q50LG9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75325-1", "uniprot_id": "LRRN2_HUMAN", "mass": 78859.0, "length": 713, "protein_name": "Leucine-rich repeat neuronal protein 2", "gene_name": "LRRN2", "organism": "Human", "refseq_name": "leucine-rich repeat neuronal protein 2 precursor", "refseq_ac": "NP_006329", "gene_names_uniprotkb": "LRRN2; GAC1; LRRN5; PRO293", "gene_names_refseq": "FIGLER7; GAC1; LRANK1; LRRN2; LRRN5", "protein_names_uniprotkb": "Leucine-rich repeat neuronal protein 2; Glioma amplified on chromosome 1 protein; Leucine-rich repeat neuronal protein 5", "protein_names_refseq": "fibronectin type III, immunoglobulin and leucine rich repeat domain 7; glioma amplified on chromosome 1 protein; leucine rich and ankyrin repeats 1; leucine rich repeat neuronal 5; leucine-rich repeat neuronal protein 2 precursor; leucine-rich repeat neuronal protein 2; leucine-rich repeat neuronal protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:10446)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "10.1101/2023.09.13.557529;12975309;27357360;29393594;29557506;31937595;32387766;33968037;34622496;35051231;35894759;36215666;37074911;9662332", "class_list": "", "function": "NLRR2 must be an inducible gene regulated by the JNK pathway to enhance cell survival and inhibit NB cell differentiation., [RefSeq, PubMed]; Prognostic signatures and potential pathogenesis of eRNAs-related genes in colon adenocarcinoma., [RefSeq, PubMed]; The protein encoded by this gene belongs to the leucine-rich repeat superfamily. This gene was found to be amplified and overexpressed in malignant gliomas. The encoded protein has homology with other proteins that function as cell-adhesion molecules or as signal transduction receptors and is a candidate for the target gene in the 1q32.1 amplicon in malignant gliomas. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Up-regulated LRRN2 expression as a marker for graft quality in living donor liver transplantation., [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": 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": 39, "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": "B2R624;Q5T0Y0;Q6UXM0;Q8N182", "ec_number_list": "", "go_molecular_function": "GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "O75325-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95202-1", "uniprot_id": "LETM1_HUMAN", "mass": 83354.0, "length": 739, "protein_name": "Mitochondrial proton/calcium exchanger protein", "gene_name": "LETM1", "organism": "Human", "refseq_name": "mitochondrial proton/calcium exchanger protein precursor", "refseq_ac": "NP_036450", "gene_names_uniprotkb": "LETM1", "gene_names_refseq": "CONDMIM; KHE; LETM1; Mdm38; SLC55A1", "protein_names_uniprotkb": "Mitochondrial proton/calcium exchanger protein; Electroneutral mitochondrial K(+)/H(+)exchanger; KHE; Leucine zipper-EF-hand-containing transmembrane protein 1", "protein_names_refseq": "LETM1 and EF-hand domain-containing protein 1, mitochondrial; Mdm38 homolog; electroneutral mitochondrial K(+)/H(+)exchanger; leucine zipper-EF-hand containing transmembrane protein 1; mitochondrial proton/calcium exchanger protein precursor; mitochondrial proton/calcium exchanger protein", "tax_id": 9606, "disease": "Wolf-Hirschhorn syndrome (Disease Ontology:DOID:0050460); mitochondrial metabolism disease (Disease Ontology:DOID:700); neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction (MONDO:MONDO:0859304)", "pathway": " (hsa:3954); (R-HSA-8949215); (R-HSA-9013408); (R-HSA-9865881)", "pathway_count": 4, "publication_count": 132, "publication_id_list": "10486213;10523675;10652265;11689693;11864571;11967128;12177196;12376551;12438411;14706454;15133129;15138253;15904662;16339170;17027967;17178908;17606466;18628306;19581409;19608861;19713215;19797662;20018762;20068231;20679435;20693986;21278747;21621533;21685886;21685888;21720385;22424782;22734669;23168492;23255595;23409044;23481700;23716663;23755363;23900286;24162235;24231807;24344246;24385928;24503055;24560927;24659802;24898248;25008109;25077561;25171321;25418920;25565209;25576301;25605331;25645385;25753332;25880248;26154972;26768311;26976564;26992070;27099988;27452731;27481945;27669901;27920218;28196833;28218747;28228285;28380382;28514659;28673544;28832583;28844695;28904123;29123128;29242379;29243944;29393594;29437277;29557506;29632046;29632711;29786170;30315122;30379171;30429286;30779550;31154438;31844290;31871319;31937595;31998317;32139798;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32929120;32938616;33141586;33298915;33592498;33691108;33936100;33968037;33981976;34087483;34171305;34211107;34357683;34509645;34561969;34969438;35051231;36010968;36055214;36056285;36241641;36284347;36321428;37217939;38665916;40914422;7399049;7476457;8939998;9822605", "class_list": "", "function": "Circ_0061140 Contributes to Ovarian Cancer Progression by Targeting miR-761/LETM1 Signaling., [RefSeq, PubMed]; Here, we present cellular and biochemical analysis of Letm1, [RefSeq, PubMed]; LETM1 is evolutionarily conserved throughout the eukaryotic kingdom and located in the mitochondria., [RefSeq, PubMed]; Plays an important role in maintenance of mitochondrial morphology and in mediating either calcium or potassium/proton antiport (PubMed:18628306, PubMed:19797662, PubMed:24344246, PubMed:24898248, PubMed:29123128, PubMed:32139798, PubMed:36055214, PubMed:36321428). Mediates proton-dependent calcium efflux from mitochondrion (PubMed:19797662, PubMed:24344246, PubMed:29123128). Also functions as an electroneutral mitochondrial proton/potassium exchanger (PubMed:24898248, PubMed:36055214, PubMed:36321428). Crucial for the maintenance of mitochondrial tubular networks and for the assembly of the supercomplexes of the respiratory chain (PubMed:18628306, PubMed:36055214). Required for the maintenance of the tubular shape and cristae organization (PubMed:18628306, PubMed:32139798)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a protein that is localized to the inner mitochondrial membrane. The protein functions to maintain the mitochondrial tubular shapes and is required for normal mitochondrial morphology and cellular viability. Mutations in this gene cause Wolf-Hirschhorn syndrome, a complex malformation syndrome caused by the deletion of parts of the distal short arm of chromosome 4. Related pseudogenes have been identified on chromosomes 8, 15 and 19. [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": 7, "reported_mutagensis": 6, "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": "B4DED2;Q9UF65", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0043022 ribosome binding;GO:0015369 calcium:proton antiporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0051562 negative regulation of mitochondrial calcium ion concentration;GO:0051260 protein homooligomerization;GO:0006816 calcium ion transport;GO:0007005 mitochondrion organization;GO:0006851 mitochondrial calcium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 13.5, "record_id": "O95202-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P01699-1", "uniprot_id": "LV144_HUMAN", "mass": 12201.0, "length": 117, "protein_name": "Immunoglobulin lambda variable 1-44", "gene_name": "IGLV1-44", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "IGLV1-44", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin lambda variable 1-44; Ig lambda chain V-I region MEM; Ig lambda chain V-I region VOR", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-166663); (R-HSA-173623); (R-HSA-198933); (R-HSA-202733); (R-HSA-2029481); (R-HSA-2029482); (R-HSA-2029485); (R-HSA-2168880); (R-HSA-2454202); (R-HSA-2730905); (R-HSA-2871796); (R-HSA-2871809); (R-HSA-2871837); (R-HSA-5690714); (R-HSA-9664323); (R-HSA-9664422); (R-HSA-9679191); (R-HSA-977606); (R-HSA-983695)", "pathway_count": 19, "publication_count": 534, "publication_id_list": 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"class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). 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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 438, "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": "A0A075B6I2;P01722;P06317;P06318;P06319", "ec_number_list": "", "go_molecular_function": "GO:0003823 antigen binding", "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": 55.1, "record_id": "P01721-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P41159-1", "uniprot_id": "LEP_HUMAN", "mass": 18641.0, "length": 167, "protein_name": "Leptin", "gene_name": "LEP", "organism": "Human", "refseq_name": "leptin precursor", "refseq_ac": "NP_000221", "gene_names_uniprotkb": "LEP; OBS; OB", "gene_names_refseq": "LEPD; LEP; OBS; OB", "protein_names_uniprotkb": "Leptin; Obese protein; Obesity factor", "protein_names_refseq": "leptin (murine obesity homolog); leptin (obesity homolog, mouse); leptin precursor; obese protein; obese, mouse, homolog of; obesity factor", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); obstructive sleep apnea (Disease Ontology:DOID:0050848); abdominal obesity-metabolic syndrome (Disease Ontology:DOID:0060611); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); congenital leptin deficiency (Disease Ontology:DOID:0111334); pre-eclampsia (Disease Ontology:DOID:10591); glucose intolerance (Disease Ontology:DOID:10603); short bowel syndrome (Disease Ontology:DOID:10605); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); adult respiratory distress syndrome (Disease Ontology:DOID:11394); osteoporosis (Disease Ontology:DOID:11476); familial hyperlipidemia (Disease Ontology:DOID:1168); gestational diabetes (Disease Ontology:DOID:11714); primary biliary cholangitis (Disease Ontology:DOID:12236); Huntington's disease (Disease Ontology:DOID:12858); alcoholic liver cirrhosis (Disease Ontology:DOID:14018); abdominal obesity-metabolic syndrome 1 (Disease Ontology:DOID:14221); Parkinson's disease (Disease Ontology:DOID:14330); cystic fibrosis (Disease Ontology:DOID:1485); breast cancer (Disease Ontology:DOID:1612); hypogonadism (Disease Ontology:DOID:1924); hyperinsulinism (Disease Ontology:DOID:2018); asthma (Disease Ontology:DOID:2841); acute pancreatitis (Disease Ontology:DOID:2913); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); lipid metabolism disorder (Disease Ontology:DOID:3146); lung non-small cell carcinoma (Disease Ontology:DOID:3908); renal cell carcinoma (Disease Ontology:DOID:4450); rhinitis (Disease Ontology:DOID:4483); hepatocellular clear cell carcinoma (Disease Ontology:DOID:5016); hepatocellular carcinoma (Disease Ontology:DOID:684); end stage renal disease (Disease Ontology:DOID:783); osteoarthritis (Disease Ontology:DOID:8398); type 2 diabetes mellitus (Disease Ontology:DOID:9352); steatotic liver disease (Disease Ontology:DOID:9452); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:3952); (R-HSA-2586552); (R-HSA-381340); (R-HSA-381771); (R-HSA-422085)", "pathway_count": 5, "publication_count": 116, "publication_id_list": "10075656;10425206;10428856;10514492;10604470;10688912;10896907;10944457;11089560;11095972;11448122;11460888;11564718;11600536;11748924;11756331;11872672;11978683;12050285;12213831;12354137;12414809;12448771;12504075;12540594;12553549;12651102;12734179;12810581;12829629;12897384;14599721;14719035;14719797;1499644;15051545;15122202;15126524;15126574;15142980;15256494;15273253;15316008;15584901;15604212;15619630;15767667;15850785;15899045;15919796;16052473;16219666;16380219;16728727;17011499;17065399;17289852;17344214;17565041;17595255;17681422;17980149;18242580;18382766;18396350;18443287;18516053;18519800;18931025;19001044;19043829;19115207;19172745;19280057;19327128;19628676;19688109;20101261;23239344;24340098;25060689;25232147;25551525;30828317;35051231;3841689;3900195;39032860;39044542;39090596;39280324;7499240;7789654;7883856;7984236;8100523;8325954;8589726;8621021;8626726;8643605;8706692;8770873;8798518;8970730;9020115;9061609;9065481;9092791;9144295;9166907;9405487;9454824;9500540;9600917;9836620", "class_list": "", "function": "Comparison of leptin and estrone levels between normal body mass index and obese menopausal women., [RefSeq, PubMed]; Key player in the regulation of energy balance and body weight control. Once released into the circulation, has central and peripheral effects by binding LEPR, found in many tissues, which results in the activation of several major signaling pathways (PubMed:15899045, PubMed:17344214, PubMed:19688109). In the hypothalamus, acts as an appetite-regulating factor that induces a decrease in food intake and an increase in energy consumption by inducing anorexinogenic factors and suppressing orexigenic neuropeptides, also regulates bone mass and secretion of hypothalamo-pituitary-adrenal hormones. In the periphery, increases basal metabolism, influences reproductive function, regulates pancreatic beta-cell function and insulin secretion, is pro-angiogenic for endothelial cell and affects innate and adaptive immunity (By similarity) (PubMed:11460888, PubMed:19688109, PubMed:24340098, PubMed:25060689, PubMed:8589726). In the arcuate nucleus of the hypothalamus, activates by depolarization POMC neurons inducing FOS and SOCS3 expression to release anorexigenic peptides and inhibits by hyperpolarization NPY neurons inducing SOCS3 with a consequent reduction on release of orexigenic peptides (By similarity). In addition to its known satiety inducing effect, has a modulatory role in nutrient absorption. In the intestine, reduces glucose absorption by enterocytes by activating PKC and leading to a sequential activation of p38, PI3K and ERK signaling pathways which exerts an inhibitory effect on glucose absorption (PubMed:24340098). Acts as a growth factor on certain tissues, through the activation of different signaling pathways increases expression of genes involved in cell cycle regulation such as CCND1, via JAK2-STAT3 pathway, or VEGFA, via MAPK1/3 and PI3K-AKT1 pathways (By similarity) (PubMed:17344214). May also play an apoptotic role via JAK2-STAT3 pathway and up-regulation of BIRC5 expression (PubMed:18242580). Pro-angiogenic, has mitogenic activity on vascular endothelial cells and plays a role in matrix remodeling by regulating the expression of matrix metalloproteinases (MMPs) and tissue inhibitors of metalloproteinases (TIMPs) (PubMed:11460888). In innate immunity, modulates the activity and function of neutrophils by increasing chemotaxis and the secretion of oxygen radicals. Increases phagocytosis by macrophages and enhances secretion of pro-inflammatory mediators. Increases cytotoxic ability of NK cells (PubMed:12504075). Plays a pro-inflammatory role, in synergy with IL1B, by inducing NOS2 which promotes the production of IL6, IL8 and Prostaglandin E2, through a signaling pathway that involves JAK2, PI3K, MAP2K1/MEK1 and MAPK14/p38 (PubMed:15899045, PubMed:19688109). In adaptive immunity, promotes the switch of memory T-cells towards T helper-1 cell immune responses (By similarity). Increases CD4(+)CD25(-) T-cell proliferation and reduces autophagy during TCR (T-cell receptor) stimulation, through MTOR signaling pathway activation and BCL2 up-regulation (PubMed:25060689)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Leptin is a potential biomarker of childhood obesity and an indicator of the effectiveness of weight-loss interventions. Review article Erratum:[Obes Rev. 2025 Dec;26(12):e13972. doi: 10.1111/obr.13972. PMID: 40518600], [RefSeq, PubMed]; Role of leptin and adiponectin in the pathogenesis of post-transplant diabetes mellitus. Review article, [RefSeq, PubMed]; The influence of nutritional status, lipid profile, leptin concentration and polymorphism of genes encoding leptin and neuropeptide Y on the effectiveness of immunotherapy in advanced NSCLC patients. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that is secreted by white adipocytes into the circulation and plays a major role in the regulation of energy homeostasis. Circulating leptin binds to the leptin receptor in the brain, which activates downstream signaling pathways that inhibit feeding and promote energy expenditure. This protein also has several endocrine functions, and is involved in the regulation of immune and inflammatory responses, hematopoiesis, angiogenesis, reproduction, bone formation and wound healing. Mutations in this gene and its regulatory regions cause severe obesity and morbid obesity with hypogonadism in human patients. A mutation in this gene has also been linked to type 2 diabetes mellitus development. [provided by RefSeq, Aug 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": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 37, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O15158;Q56A88", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0005179 hormone activity;GO:0051428 peptide hormone receptor binding;GO:1990460 leptin receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005829 cytosol", "go_biological_process": "GO:0042307 positive regulation of protein import into nucleus;GO:0019953 sexual reproduction;GO:0010888 negative regulation of lipid storage;GO:2000491 positive regulation of hepatic stellate cell activation;GO:0000122 negative regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 11.7, "record_id": "P41159-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q04760-1", "uniprot_id": "LGUL_HUMAN", "mass": 20778.0, "length": 184, "protein_name": "Lactoylglutathione lyase", "gene_name": "GLO1", "organism": "Human", "refseq_name": "lactoylglutathione lyase", "refseq_ac": "NP_006699", "gene_names_uniprotkb": "GLO1", "gene_names_refseq": "GLO1; GLOD1; GLYI; HEL-S-74", "protein_names_uniprotkb": "Lactoylglutathione lyase; 4.4.1.5; Aldoketomutase; Glx I; Glyoxalase I; Ketone-aldehyde mutase; Methylglyoxalase; S-D-lactoylglutathione methylglyoxal lyase", "protein_names_refseq": "S-D-lactoylglutathione methylglyoxal lyase; aldoketomutase; epididymis secretory protein Li 74; glx I; glyoxalase domain containing 1; ketone-aldehyde mutase; lactoyl glutathione lyase; lactoylglutathione lyase; methylglyoxalase", "tax_id": 9606, "disease": "autistic disorder (Disease Ontology:DOID:12849); vascular disease (Disease Ontology:DOID:178); end stage renal disease (Disease Ontology:DOID:783); diabetic retinopathy (Disease Ontology:DOID:8947); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:2739); (R-HSA-70268)", "pathway_count": 2, "publication_count": 101, "publication_id_list": "10521255;10564821;11276087;11377399;11863375;11945601;12121650;12962632;14596586;15551868;15870898;17576200;18351441;19199007;1931970;1935931;19452310;19608861;19679512;1993674;1996957;20112406;20454679;21156174;22628558;23122816;23284632;23301498;23481700;2440048;24715725;24998673;25202825;25418920;25575590;25594249;25892735;26154972;26811146;26929215;26992070;27166188;27317664;27846572;27920218;28063628;28218747;28228285;28446606;28514659;28904123;29242379;29393594;29437277;29472561;29493099;29557506;29632046;29632711;30192525;30315122;30410026;31154438;31217245;31844290;32157095;32265295;32350084;32387766;32403431;32938616;33064660;33633747;33968037;33981976;34019948;34171305;34229054;3435492;34357683;34725712;35251023;36241641;36417180;37572800;37814205;38027126;38665916;38870176;39434012;39894887;4822737;7684374;7757881;7818469;8449929;8670058;8726225;9119391;9218781;9705294", "class_list": "", "function": "Association between GLO1 variants and gestational diabetes mellitus susceptibility in a Chinese population: a preliminary study. Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the conversion of hemimercaptal, formed from methylglyoxal and glutathione, to S-lactoylglutathione (PubMed:20454679, PubMed:23122816, PubMed:9705294). Involved in the regulation of TNF-induced transcriptional activity of NF-kappa-B (PubMed:19199007). Required for normal osteoclastogenesis (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; GLO1 regulates hepatocellular carcinoma proliferation and migration through the cell cycle pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Glyoxalase 1: Emerging biomarker and therapeutic target in cervical cancer progression. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-205-3p suppresses bladder cancer progression via GLO1 mediated P38/ERK activation. Publication Status: Online-Only, [RefSeq, PubMed]; The enzyme encoded by this gene is responsible for the catalysis and formation of S-lactoyl-glutathione from methylglyoxal condensation and reduced glutatione. Glyoxalase I is linked to HLA and is localized to 6p21.3-p21.1, between HLA and the centromere. [provided by RefSeq, Jul 2008]., [RefSeq]; The genetic polymorphisms and activity of glyoxalase 1 as a risk factor for acute coronary syndrome in South Indians with type 2 diabetes mellitus., [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": 13, "reported_glycation": 0, "reported_snv": 1, "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": "B2R6P7;B4DDV0;P78375;Q59EL0;Q5TZW3;Q96FC0;Q96J41", "ec_number_list": "4.4.1.5", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0004462 lactoylglutathione lyase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0030316 osteoclast differentiation;GO:0043066 negative regulation of apoptotic process;GO:0005975 carbohydrate metabolic process;GO:0009438 methylglyoxal metabolic process;GO:0006749 glutathione metabolic process", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "Q04760-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5JTD7-1", "uniprot_id": "LRC73_HUMAN", "mass": 33409.0, "length": 316, "protein_name": "Leucine-rich repeat-containing protein 73", "gene_name": "LRRC73", "organism": "Human", "refseq_name": "leucine-rich repeat-containing protein 73 isoform 1", "refseq_ac": "NP_001012992", "gene_names_uniprotkb": "LRRC73; C6orf154", "gene_names_refseq": "C6orf154; LRRC73", "protein_names_uniprotkb": "Leucine-rich repeat-containing protein 73", "protein_names_refseq": "leucine-rich repeat-containing protein 73 isoform 1; leucine-rich repeat-containing protein 73", "tax_id": 9606, "disease": "", "pathway": " (hsa:221424)", "pathway_count": 1, "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": "Q5JTD7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VT99-1", "uniprot_id": "LRC38_HUMAN", "mass": 32082.0, "length": 294, "protein_name": "Leucine-rich repeat-containing protein 38", "gene_name": "LRRC38", "organism": "Human", "refseq_name": "leucine-rich repeat-containing protein 38 precursor", "refseq_ac": "NP_001010847", "gene_names_uniprotkb": "LRRC38", "gene_names_refseq": "LRRC38", "protein_names_uniprotkb": "Leucine-rich repeat-containing protein 38; BK channel auxiliary gamma subunit LRRC38", "protein_names_refseq": "BK channel auxiliary gamma subunit LRRC38; BK channel auxilliary gamma subunit LRRC38; leucine-rich repeat-containing protein 38 precursor; leucine-rich repeat-containing protein 38", "tax_id": 9606, "disease": "", "pathway": " (hsa:126755)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "22547800;26009545;28228285;34087483;35051231", "class_list": "", "function": "Auxiliary protein of the large-conductance, voltage and calcium-activated potassium channel (BK alpha). Modulates gating properties by producing a marked shift in the BK channel's voltage dependence of activation in the hyperpolarizing direction, and in the absence of calcium., [UniProtKB, PubMed]; Suggest that BK channel modulation by auxiliary gamma subunits depends on intra- and/or juxta-membrane mechanisms., [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": "Q96B32", "ec_number_list": "", "go_molecular_function": "GO:0044325 transmembrane transporter binding;GO:0005249 voltage-gated potassium channel activity;GO:0099104 potassium channel activator activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0008076 voltage-gated potassium channel complex", "go_biological_process": "GO:1903818 positive regulation of voltage-gated potassium channel activity;GO:0071805 potassium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q5VT99-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VUJ6-1", "uniprot_id": "LRCH2_HUMAN", "mass": 84588.0, "length": 765, "protein_name": "Leucine-rich repeat and calponin homology domain-containing protein 2", "gene_name": "LRCH2", "organism": "Human", "refseq_name": "leucine-rich repeat and calponin homology domain-containing protein 2 isoform 2", "refseq_ac": "NP_001230892", "gene_names_uniprotkb": "LRCH2; KIAA1495", "gene_names_refseq": "LRCH2; dA204F4.4", "protein_names_uniprotkb": "Leucine-rich repeat and calponin homology domain-containing protein 2", "protein_names_refseq": "leucine-rich repeat and calponin homology domain-containing protein 2 isoform 2; leucine-rich repeat and calponin homology domain-containing protein 2; leucine-rich repeats and calponin homology (CH) domain containing 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:57631)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "10.1101/2023.09.13.557529;23481700;24715725;25576301;26992070;28228285;28832583;28834231;29557506;30315122;31217245;31844290;31937595;32350084;33141586;33298915;33936100;33968037;35051231;35580925;36010968", "class_list": "", "function": "May play a role in the organization of the cytoskeleton., [UniProtKB, UniProtKB, UniProtKB]; This gene encodes a member of the leucine-rich repeat and calponin homology domain-containing protein family. These family members contain multiple N-terminal leucine-rich repeats, in addition to a C-terminal calponin homology domain, a type of domain that mediates interactions with actin filaments. These proteins are conserved across animal species, and studies of a similar Drosophila protein indicate a function as a cytoskeletal scaffolding protein. Alternative splicing of this gene results in multiple transcript variants. [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": 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": 19, "reported_interactions": 0, "missing_score": 9437, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "F5H2T1;Q08AD5;Q9HA88;Q9P233", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q5VUJ6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q68CR7-1", "uniprot_id": "LRC66_HUMAN", "mass": 97778.0, "length": 880, "protein_name": "Leucine-rich repeat-containing protein 66", "gene_name": "LRRC66", "organism": "Human", "refseq_name": "leucine-rich repeat-containing protein 66 precursor", "refseq_ac": "NP_001019782", "gene_names_uniprotkb": "LRRC66", "gene_names_refseq": "LRRC66", "protein_names_uniprotkb": "Leucine-rich repeat-containing protein 66", "protein_names_refseq": "leucine-rich repeat-containing protein 66 precursor; leucine-rich repeat-containing protein 66", "tax_id": 9606, "disease": "", "pathway": " (hsa:339977)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "28904123;29557506;33592498;34171305;35768906", "class_list": "", "function": "Polymorphisms in the HSF2, LRRC6, MEIG1 and PTIP genes correlate with sperm motility in idiopathic infertility., [RefSeq, PubMed]; This gene encodes a protein belonging to the leucine-rich repeat family of proteins, which are involved in diverse biological processes, including cell adhesion, cellular trafficking, and hormone-receptor interactions. [provided by RefSeq, Apr 2017]., [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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 47, "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": "", "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": "Q68CR7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6UXK5-1", "uniprot_id": "LRRN1_HUMAN", "mass": 80716.0, "length": 716, "protein_name": "Leucine-rich repeat neuronal protein 1", "gene_name": "LRRN1", "organism": "Human", "refseq_name": "leucine-rich repeat neuronal protein 1 precursor", "refseq_ac": "NP_001311117", "gene_names_uniprotkb": "LRRN1; KIAA1497; Nbla10449; PRO1338", "gene_names_refseq": "FIGLER3; LRRN1; NLRR-1; NLRR1", "protein_names_uniprotkb": "Leucine-rich repeat neuronal protein 1; NLRR-1; Neuronal leucine-rich repeat protein 1", "protein_names_refseq": "fibronectin type III, immunoglobulin and leucine rich repeat domains 3; leucine-rich repeat neuronal protein 1 precursor; leucine-rich repeat neuronal protein 1; neuronal leucine-rich repeat protein 1", "tax_id": 9606, "disease": "stomach cancer (Disease Ontology:DOID:10534)", "pathway": " (hsa:57633)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "10.1038/emboj.2013.79;12880961;12975309;15340161;18591937;20678249;23584533;27604320;29557506;29632711;29893054;31020640;31087525;31844290;32387766;32488085;32983136;33592498;33936100;33968037;35051231;35580925;36010968;37074911;37938771;38862513", "class_list": "", "function": "Authors found that LRRN1 contributes to pluripotency of hESC by preventing translocation of OCT4, NANOG, and SOX2 from nucleus to cytoplasm, thereby lessening their post-translational modification and degradation., [RefSeq, PubMed]; N-MYC promotes cell proliferation through a direct transactivation of neuronal leucine-rich repeat protein-1 (NLRR1) gene in neuroblastoma., [RefSeq, PubMed]; NLRR1 appears to be an extracellular negative regulator of ALK signalling in neuroblastoma and neuronal development. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Study found that LRRN1 is upregulated in gastric cancer (GC) tissue samples and its expression is closely related to poor prognosis. Knocking down LRRN1 expression promoted GC cell apoptosis, and activated the Fas/FasL pathway., [RefSeq, PubMed]; Whole-genome sequencing identifies variants in ANK1, LRRN1, HAS1, and other genes and regulatory regions for stroke in type 1 diabetes. Publication Status: Online-Only, [RefSeq, 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": 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": 43, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 1, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q3LID5;Q8IYV5;Q9H8V1;Q9P231", "ec_number_list": "", "go_molecular_function": "GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q6UXK5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6UY01-1", "uniprot_id": "LRC31_HUMAN", "mass": 61489.0, "length": 552, "protein_name": "Leucine-rich repeat-containing protein 31", "gene_name": "LRRC31", "organism": "Human", "refseq_name": "leucine-rich repeat-containing protein 31 isoform 2", "refseq_ac": "NP_001264056", "gene_names_uniprotkb": "LRRC31; PRO34156", "gene_names_refseq": "HEL-S-293; LRRC31", "protein_names_uniprotkb": "Leucine-rich repeat-containing protein 31", "protein_names_refseq": "epididymis secretory protein Li 293; epididymis secretory sperm binding protein; leucine-rich repeat-containing protein 31 isoform 2; leucine-rich repeat-containing protein 31", "tax_id": 9606, "disease": "", "pathway": " (hsa:79782)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "12975309;25892735;26462420;30192525;31844290;36215666", "class_list": "", "function": "This report shows that leucine-rich repeat-containing protein 31 (LRRC31) regulates esophageal epithelial barrier 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "B7ZL44;E5RJA9;Q17RA3;Q8N848;Q9H5N5;V9HW14", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q6UY01-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZQY2-1", "uniprot_id": "LR74B_HUMAN", "mass": 41621.0, "length": 392, "protein_name": "Leucine-rich repeat-containing protein 74B", "gene_name": "LRRC74B", "organism": "Human", "refseq_name": "leucine-rich repeat-containing protein 74B", "refseq_ac": "NP_001277935", "gene_names_uniprotkb": "LRRC74B", "gene_names_refseq": "LRRC74B", "protein_names_uniprotkb": "Leucine-rich repeat-containing protein 74B", "protein_names_refseq": "leucine-rich repeat-containing protein 74B; leucine-rich repeat-containing protein LOC400891", "tax_id": 9606, "disease": "", "pathway": " (hsa:400891)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "29351928;32387766;33592498;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": 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": 7, "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": 0.8, "record_id": "Q6ZQY2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZUX7-1", "uniprot_id": "LHPL2_HUMAN", "mass": 24486.0, "length": 228, "protein_name": "LHFPL tetraspan subfamily member 2 protein", "gene_name": "LHFPL2", "organism": "Human", "refseq_name": "LHFPL tetraspan subfamily member 2 protein", "refseq_ac": "NP_005770", "gene_names_uniprotkb": "LHFPL2; KIAA0206", "gene_names_refseq": "LHFPL2", "protein_names_uniprotkb": "LHFPL tetraspan subfamily member 2 protein; Lipoma HMGIC fusion partner-like 2 protein", "protein_names_refseq": "LHFP-like protein 2; LHFPL tetraspan subfamily member 2 protein; lipoma HMGIC fusion partner-like 2 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:10184); (R-HSA-114608)", "pathway_count": 2, "publication_count": 25, "publication_id_list": "1435334;14630798;15297306;15905332;23640497;25502872;27402877;29393594;29632046;30429286;31154438;31848261;32157095;33123756;33298915;33912179;33936100;34357683;34433824;35051231;35318648;35580925;38928412;6457647;8467233", "class_list": "", "function": "LHFPL2 Serves as a Potential Biomarker for M2 Polarization of Macrophages in Renal Cell Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in female and male fertility. Involved in distal reproductive tract development., [UniProtKB, UniProtKB]; Results report evidence for the existence of variants in LHFPL2 and TPM1 with low allele frequencies and large effects on age-at-onset of familial Parkinson's disease., [RefSeq, PubMed]; The authors present an overview of the LHFP gene family in mouse and humans, [RefSeq, PubMed]; This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. Alternatively spliced transcript variants have been found, 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "B2RMQ6;Q7Z5P0;Q92605", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0031092 platelet alpha granule membrane", "go_biological_process": "GO:0007338 single fertilization;GO:0046545 development of primary female sexual characteristics;GO:0046546 development of primary male sexual characteristics;GO:1905516 positive regulation of fertilization", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q6ZUX7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86V48-1", "uniprot_id": "LUZP1_HUMAN", "mass": 120275.0, "length": 1076, "protein_name": "Leucine zipper protein 1", "gene_name": "LUZP1", "organism": "Human", "refseq_name": "leucine zipper protein 1", "refseq_ac": "NP_001136018", "gene_names_uniprotkb": "LUZP1", "gene_names_refseq": "LUZP1; LUZP", "protein_names_uniprotkb": "Leucine zipper protein 1; Filamin mechanobinding actin cross-linking protein; Fimbacin", "protein_names_refseq": "filamin mechanobinding actin cross-linking protein; fimbacin; leucine zipper protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:7798)", "pathway_count": 1, "publication_count": 79, "publication_id_list": "10.1101/2023.09.13.557529;11237011;17081983;17287340;17322306;18212344;18220336;18452278;18669648;18767875;19007248;19415658;19651622;19664995;19691289;20068231;21406692;23186163;23301498;23481700;24275569;26031464;26154972;26638075;27397612;27846572;27869121;27920218;28510447;28657654;28832583;28834231;28904123;29242379;29393594;29508533;29557506;29786170;30059200;30315122;30379171;30429286;30484775;30784271;30990684;31154438;31530632;31844290;31848261;32157095;32350084;32357974;32387766;32488085;32496561;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33968037;34019948;34509645;34561969;34725712;35051231;35254053;35580925;36010968;36241641;37217939;37340703;38009294;38665916;38832964;40596516", "class_list": "", "function": "F-actin cross-linking protein (PubMed:30990684). Stabilizes actin and acts as a negative regulator of primary cilium formation (PubMed:32496561). Positively regulates the phosphorylation of both myosin II and protein phosphatase 1 regulatory subunit PPP1R12A/MYPT1 and promotes the assembly of myosin II stacks within actin stress fibers (PubMed:38832964). Inhibits the phosphorylation of myosin light chain MYL9 by DAPK3 and suppresses the constriction velocity of the contractile ring during cytokinesis (PubMed:38009294). Binds to microtubules and promotes epithelial cell apical constriction by up-regulating levels of diphosphorylated myosin light chain (MLC) through microtubule-dependent inhibition of MLC dephosphorylation by myosin phosphatase (By similarity). Involved in regulation of cell migration, nuclear size and centriole number, probably through regulation of the actin cytoskeleton (By similarity). Component of the CERF-1 and CERF-5 chromatin remodeling complexes in embryonic stem cells where it acts to stabilize the complexes (By similarity). Plays a role in embryonic brain and cardiovascular development (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed]; LUZP mRNA is a prognostic indicator in hepatocellular carcinoma, [RefSeq, PubMed]; LUZP1 regulates the maturation of contractile actomyosin bundles. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that contains a leucine zipper motif. The exact function of the encoded protein is not known. In mice this gene affects neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 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": 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": 42, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 35, "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": "Q5TH93;Q8N4X3;Q8TEH1", "ec_number_list": "", "go_molecular_function": "GO:0008017 microtubule binding;GO:0051015 actin filament binding", "go_cellular_component": "GO:0005813 centrosome;GO:0005874 microtubule;GO:0005884 actin filament;GO:0005923 bicellular tight junction;GO:0015629 actin cytoskeleton", "go_biological_process": "GO:1903119 protein localization to actin cytoskeleton;GO:1902018 negative regulation of cilium assembly;GO:0043149 stress fiber assembly;GO:0003383 apical constriction;GO:0061635 regulation of protein complex stability", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "Q86V48-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86YD5-1", "uniprot_id": "LRAD3_HUMAN", "mass": 37419.0, "length": 345, "protein_name": "Low-density lipoprotein receptor class A domain-containing protein 3", "gene_name": "LDLRAD3", "organism": "Human", "refseq_name": "low-density lipoprotein receptor class A domain-containing protein 3 isoform 2 precursor", "refseq_ac": "NP_001291192", "gene_names_uniprotkb": "LDLRAD3; LRAD3", "gene_names_refseq": "LDLRAD3; LRAD3", "protein_names_uniprotkb": "Low-density lipoprotein receptor class A domain-containing protein 3; LDLR class A domain-containing protein 3", "protein_names_refseq": "LDLR class A domain-containing protein 3; low-density lipoprotein receptor class A domain-containing protein 3 isoform 2 precursor; low-density lipoprotein receptor class A domain-containing protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:143458)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "10.1101/2023.09.13.557529;11237011;16303743;20410850;21795536;25576301;25880248;26854353;27600516;29307994;30779550;31222486;31521692;31844290;32357974;33208938;33392160;33981976;34357683;34646020;34646021;35051231;35975639;38430029", "class_list": "", "function": "(Microbial infection) Acts as a receptor for Venezuelan equine encephalitis virus., [UniProtKB, PubMed, PubMed, PubMed]; Circ-LDLRAD3 Knockdown Reduces Cisplatin Chemoresistance and Inhibits the Development of Gastric Cancer with Cisplatin Resistance through miR-588 Enrichment-Mediated SOX5 Inhibition., [RefSeq, PubMed]; Circ-LDLRAD3/miR-655-3p/MAPK1 axis enhances cell migration and invasion in papillary thyroid carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Data suggest that circular RNA circ-LDLRAD3 may be a biomarker in the diagnosis of pancreatic cancer., [RefSeq, PubMed]; Increased expression of circ-LDLRAD3 was indicative of a poor prognosis in patients with pancreatic cancer. Knockdown of circ-LDLRAD3 repressed the growth of pancreatic cancer in vitro and in vivo. miR-137-3p was identified as a direct target of circ-LDLRAD3. Upregulation of circ-LDLRAD3 could mitigate the inhibitory effect of miR-137-3p on the proliferation, migration and invasion of pancreatic cancer tissue and cells., [RefSeq, PubMed]; LRAD3 is a component of pathways that function effectively to modulate Itch and Nedd4 auto-ubiquitination and levels., [RefSeq, PubMed]; LRAD3 that modulates amyloid precursor protein trafficking., [RefSeq, PubMed]; May influence APP processing, resulting in a decrease in sAPP-alpha production and increased amyloidogenic P3 peptide production. May regulate ITCH and NEDD4 E3 ligase activity and degradation (PubMed:26854353)., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Structure of Venezuelan equine encephalitis virus in complex with the LDLRAD3 receptor., [RefSeq, PubMed]; Structure of Venezuelan equine encephalitis virus with its receptor LDLRAD3., [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": 13, "reported_glycation": 0, "reported_snv": 15, "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": "B7Z1U3;B9EG81;Q8NBJ0", "ec_number_list": "", "go_molecular_function": "GO:0001540 amyloid-beta binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0006898 receptor-mediated endocytosis;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q86YD5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IYB1-1", "uniprot_id": "M21D2_HUMAN", "mass": 55800.0, "length": 491, "protein_name": "Nucleotidyltransferase MB21D2", "gene_name": "MB21D2", "organism": "Human", "refseq_name": "nucleotidyltransferase MB21D2", "refseq_ac": "NP_848591", "gene_names_uniprotkb": "MB21D2; C3orf59", "gene_names_refseq": "C3orf59; D2A; MB21D2; hMB21D2", "protein_names_uniprotkb": "Nucleotidyltransferase MB21D2; 2.7.7.-; Mab-21 domain-containing protein 2; hMB21D2", "protein_names_refseq": "DANGER family member 2A; mab-21 domain-containing protein 2; nucleotidyltransferase MB21D2; protein MB21D2", "tax_id": 9606, "disease": "", "pathway": " (hsa:151963)", "pathway_count": 1, "publication_count": 46, "publication_id_list": "19413330;23481700;24715725;25576301;26154972;26375851;26992070;27862975;27920218;28228285;28649982;28832583;28834231;28860189;28904123;29242379;29493099;29508533;29557506;29786170;30315122;30429286;30484775;31217245;31844290;31848261;32157095;32350084;32502341;32938616;32979859;32983136;33141586;33298915;33633747;33717175;33912179;33981976;34087483;34261127;34405274;34932366;35051231;36010968;36215666;36241641", "class_list": "", "function": "Overexpression of wild type or a Q311E mutant MB21D2 promotes a pro-oncogenic phenotype in HNSCC., [RefSeq, PubMed]; Probable nucleotidyltransferase that catalyzes the formation of cyclic dinucleotide second messenger in response to some unknown stimulus., [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": 5, "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": "Q86VD8", "ec_number_list": "", "go_molecular_function": "GO:0045296 cadherin binding;GO:0044877 protein-containing complex binding;GO:0016779 nucleotidyltransferase activity", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q8IYB1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N4P6-1", "uniprot_id": "LRC71_HUMAN", "mass": 61825.0, "length": 559, "protein_name": "Leucine-rich repeat-containing protein 71", "gene_name": "LRRC71", "organism": "Human", "refseq_name": "leucine-rich repeat-containing protein 71", "refseq_ac": "NP_653303", "gene_names_uniprotkb": "LRRC71; C1orf92", "gene_names_refseq": "C1orf92; LRRC71", "protein_names_uniprotkb": "Leucine-rich repeat-containing protein 71", "protein_names_refseq": "leucine-rich repeat-containing protein 71; leucine-rich repeat-containing protein C10orf92", "tax_id": 9606, "disease": "", "pathway": " (hsa:149499)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "19664995;29557506;30379171;33392160;35494241;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": 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": 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": "Q96M24", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q8N4P6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N7C0-1", "uniprot_id": "LRC52_HUMAN", "mass": 35126.0, "length": 313, "protein_name": "Leucine-rich repeat-containing protein 52", "gene_name": "LRRC52", "organism": "Human", "refseq_name": "leucine-rich repeat-containing protein 52 precursor", "refseq_ac": "NP_001005214", "gene_names_uniprotkb": "LRRC52", "gene_names_refseq": "LRRC52", "protein_names_uniprotkb": "Leucine-rich repeat-containing protein 52; BK channel auxiliary gamma subunit LRRC52", "protein_names_refseq": "BK channel auxiliary gamma subunit LRRC52; BK channel auxilliary gamma subunit LRRC52; leucine-rich repeat-containing protein 52 precursor; leucine-rich repeat-containing protein 52", "tax_id": 9606, "disease": "", "pathway": " (hsa:440699); (R-HSA-9662360)", "pathway_count": 2, "publication_count": 10, "publication_id_list": "10025409;11163272;19064610;19536175;22547800;23129643;26009545;31844290;37074911;38267364", "class_list": "", "function": "Auxiliary protein of the large-conductance, voltage and calcium-activated potassium channel (BK alpha). Modulates gating properties by producing a marked shift in the BK channel's voltage dependence of activation in the hyperpolarizing direction, and in the absence of calcium. KCNU1 channel auxiliary protein. Modulates KCNU1 gating properties., [UniProtKB, PubMed, PubMed]; LRRC52 is likely a functional component of human KSperdagger., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Suggest that BK channel modulation by auxiliary gamma subunits depends on intra- and/or juxta-membrane mechanisms., [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": 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": 22, "reported_interactions": 0, "missing_score": 9606, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A2RUN7;Q5T9K5", "ec_number_list": "", "go_molecular_function": "GO:0044325 transmembrane transporter binding;GO:0005249 voltage-gated potassium channel activity;GO:0099104 potassium channel activator activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0008076 voltage-gated potassium channel complex", "go_biological_process": "GO:1903818 positive regulation of voltage-gated potassium channel activity;GO:0071805 potassium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q8N7C0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96JM4-4", "uniprot_id": "LRIQ1_HUMAN", "mass": 199300.0, "length": 1722, "protein_name": "Leucine-rich repeat- and IQ domain-containing protein 1", "gene_name": "LRRIQ1", "organism": "Human", "refseq_name": "leucine-rich repeat- and IQ domain-containing protein 1", "refseq_ac": "NP_001073379", "gene_names_uniprotkb": "LRRIQ1; KIAA1801", "gene_names_refseq": "LRRIQ1", "protein_names_uniprotkb": "Leucine-rich repeat- and IQ domain-containing protein 1", "protein_names_refseq": "leucine-rich repeat and IQ domain-containing protein 1; leucine-rich repeat- and IQ domain-containing protein 1; testicular tissue protein Li 111", "tax_id": 9606, "disease": "", "pathway": " (hsa:84125)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "23481700;29242379;29557506;30524438;30620550;32387766;32938616;33141586;33968037;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": 64, "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": "Q567P4;Q9BS17;Q9HA36", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0015630 microtubule cytoskeleton", "go_biological_process": "GO:0009966 regulation of signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q96JM4-4", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96M69-1", "uniprot_id": "LRGUK_HUMAN", "mass": 93618.0, "length": 825, "protein_name": "Leucine-rich repeat and guanylate kinase domain-containing protein", "gene_name": "LRGUK", "organism": "Human", "refseq_name": "leucine-rich repeat and guanylate kinase domain-containing protein isoform 3", "refseq_ac": "NP_653249", "gene_names_uniprotkb": "LRGUK", "gene_names_refseq": "CFAP246; LRGUK", "protein_names_uniprotkb": "Leucine-rich repeat and guanylate kinase domain-containing protein", "protein_names_refseq": "leucine-rich repeat and guanylate kinase domain-containing protein isoform 3; leucine-rich repeat and guanylate kinase domain-containing protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:136332)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;17924679;18498660;25781171;26758079;29557506;31201273;31844290;32938616;35051231;37217939;39894887", "class_list": "", "function": "Involved in multiple aspects of sperm assembly including acrosome attachment, shaping of the sperm head and in the early aspects of axoneme development. Not essential for primary cilium biogenesis., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Study demonstrates that leucine-rich repeats and guanylate kinase-domain containing isoform 1 (LRGUK-1) is required for multiple aspects of sperm assembly, including acrosome attachment, sperm head shaping and the initiation of the axoneme growth to form the core of the sperm tail. Publication Status: Online-Only, [RefSeq, PubMed]; The structure revealed that hGMPK consists of three distinct regions designated as the LID, GMP-binding (GMP-BD), and CORE domains and is in an open configuration that is nucleotide binding-competent. Nonsynonymous single-nucleotide variants of the hGMPK CORE domain distant from the nucleotide-binding site of this domain modulate enzymatic activity without significantly affecting hGMPK's structure., [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": 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": "Q2M3I1", "ec_number_list": "", "go_molecular_function": "GO:0004385 GMP kinase activity;GO:0005524 ATP binding;GO:0016301 kinase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0001669 acrosomal vesicle;GO:0002177 manchette", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0035082 axoneme assembly", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q96M69-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BTN0-1", "uniprot_id": "LRFN3_HUMAN", "mass": 66260.0, "length": 628, "protein_name": "Leucine-rich repeat and fibronectin type-III domain-containing protein 3", "gene_name": "LRFN3", "organism": "Human", "refseq_name": "leucine-rich repeat and fibronectin type-III domain-containing protein 3 precursor", "refseq_ac": "NP_078785", "gene_names_uniprotkb": "LRFN3; PRO34192; SALM4", "gene_names_refseq": "FIGLER1; LRFN3; SALM4", "protein_names_uniprotkb": "Leucine-rich repeat and fibronectin type-III domain-containing protein 3; Synaptic adhesion-like molecule 4", "protein_names_refseq": "fibronectin type III, immunoglobulin and leucine rich repeat domains 1; leucine-rich repeat and fibronectin type-III domain-containing protein 3 precursor; leucine-rich repeat and fibronectin type-III domain-containing protein 3; synaptic adhesion-like molecule 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:79414); (R-HSA-8849932)", "pathway_count": 2, "publication_count": 23, "publication_id_list": "10.1101/2023.09.13.557529;12975309;16495444;16630835;18227064;19681166;20600927;24190977;26321637;29242379;29393594;29557506;30429286;31530632;31844290;31848261;32157095;32161166;32387766;33968037;34509645;7569905;8601796", "class_list": "", "function": "Cell adhesion molecule that mediates homophilic cell-cell adhesion in a Ca(2+)-independent manner. Promotes neurite outgrowth in hippocampal neurons (By similarity)., [UniProtKB]", "predicted_glycosites": 6, "predicted_n_glycosites": 3, "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": 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": 30, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q6UY10", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0048787 presynaptic active zone membrane;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0030424 axon", "go_biological_process": "GO:0099560 synaptic membrane adhesion;GO:0099179 regulation of synaptic membrane adhesion;GO:1905606 regulation of presynapse assembly", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q9BTN0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9C0I9-1", "uniprot_id": "LRC27_HUMAN", "mass": 60089.0, "length": 530, "protein_name": "Leucine-rich repeat-containing protein 27", "gene_name": "LRRC27", "organism": "Human", "refseq_name": "leucine-rich repeat-containing protein 27 isoform a", "refseq_ac": "NP_001137229", "gene_names_uniprotkb": "LRRC27; KIAA1674", "gene_names_refseq": "LRRC27", "protein_names_uniprotkb": "Leucine-rich repeat-containing protein 27", "protein_names_refseq": "leucine-rich repeat-containing protein 27 isoform a; leucine-rich repeat-containing protein 27; testicular tissue protein Li 108", "tax_id": 9606, "disease": "", "pathway": " (hsa:80313)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "28228285;30429286;31937794;32387766;32938616;35580925;37217939;39894887", "class_list": "", "function": "Exploring the Novel Susceptibility Gene Variants for Primary Open-Angle Glaucoma in East Asian Cohorts: The GLAU-GENDISK Study. 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": 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": "A6NE72;A6NJB4;A6NKD3;D3DRH0;Q5SZH6;Q5SZH8;Q5SZH9;Q86XT5;Q8N7C8;Q8NA21", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q9C0I9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H9A6-1", "uniprot_id": "LRC40_HUMAN", "mass": 68250.0, "length": 602, "protein_name": "Leucine-rich repeat-containing protein 40", "gene_name": "LRRC40", "organism": "Human", "refseq_name": "leucine-rich repeat-containing protein 40", "refseq_ac": "NP_060238", "gene_names_uniprotkb": "LRRC40", "gene_names_refseq": "LRRC40; dJ677H15.1", "protein_names_uniprotkb": "Leucine-rich repeat-containing protein 40", "protein_names_refseq": "leucine-rich repeat-containing protein 40; testicular tissue protein Li 109", "tax_id": 9606, "disease": "", "pathway": " (hsa:55631)", "pathway_count": 1, "publication_count": 62, "publication_id_list": "10.1101/2023.09.13.557529;18669648;20068231;22424782;22645359;24715725;25418920;25645385;25892735;26992070;27600516;27846572;28218747;28228285;28514659;28649982;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29786170;30315122;30410026;30484775;30779550;31844290;32161166;32265295;32350084;32357974;32387766;32488085;32938616;33141586;33298915;33592498;33633747;33691108;33749153;33936100;33968037;33981976;34087483;34171305;34357683;34405274;34509645;34932366;35051231;35138101;35154160;35251023;35318648;35580925;36010968;36215666;36241641;40914422", "class_list": "", "function": "PLXNA2 and LRRC40 as candidate genes in autism spectrum 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": 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": 0, "reported_glycation": 0, "reported_snv": 16, "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": "Q9BTR7;Q9NSK1;Q9NXC1", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q9H9A6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HBL6-1", "uniprot_id": "LRTM1_HUMAN", "mass": 38171.0, "length": 345, "protein_name": "Leucine-rich repeat and transmembrane domain-containing protein 1", "gene_name": "LRTM1", "organism": "Human", "refseq_name": "leucine-rich repeat and transmembrane domain-containing protein 1 isoform 2", "refseq_ac": "NP_001291318", "gene_names_uniprotkb": "LRTM1; HT017", "gene_names_refseq": "HT017; LRTM1", "protein_names_uniprotkb": "Leucine-rich repeat and transmembrane domain-containing protein 1", "protein_names_refseq": "leucine rich repeats and transmembrane domains 1; leucine-rich repeat and transmembrane domain-containing protein 1 isoform 2; leucine-rich repeat and transmembrane domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:57408)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "10931946;17081983;34171305;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": 1, "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": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q8IUU2", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q9HBL6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9ULH4-1", "uniprot_id": "LRFN2_HUMAN", "mass": 84731.0, "length": 789, "protein_name": "Leucine-rich repeat and fibronectin type-III domain-containing protein 2", "gene_name": "LRFN2", "organism": "Human", "refseq_name": "leucine-rich repeat and fibronectin type-III domain-containing protein 2 precursor", "refseq_ac": "NP_065788", "gene_names_uniprotkb": "LRFN2; KIAA1246; SALM1", "gene_names_refseq": "FIGLER2; KIAA1246; LRFN2; SALM1", "protein_names_uniprotkb": "Leucine-rich repeat and fibronectin type-III domain-containing protein 2; Synaptic adhesion-like molecule 1", "protein_names_refseq": "fibronectin type III, immunoglobulin and leucine rich repeat domains 2; leucine-rich repeat and fibronectin type-III domain-containing protein 2 precursor; leucine-rich repeat and fibronectin type-III domain-containing protein 2; synaptic adhesion-like molecule 1", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041)", "pathway": " (hsa:57497); (R-HSA-8849932)", "pathway_count": 2, "publication_count": 23, "publication_id_list": "10.1101/2023.09.13.557529;11237011;16495444;16630835;18227064;19413330;19681166;20600927;22174418;26321637;31053115;31154438;31605628;32880595;32938616;34087483;35051231;35254053;35526384;35879265;37802603;7569905;8601796", "class_list": "", "function": "Bladder cancer intrinsic LRFN2 drives anticancer immunotherapy resistance by attenuating CD8[+] T cell infiltration and functional transition., [RefSeq, PubMed]; Enrichment of SALM1 on the cell surface affects dendritic arborization, and intracellular motifs regulate its dendritic versus axonal localization., [RefSeq, PubMed]; LRFN2 binding to NMDAR inhibits the progress of ESCC via regulating the Wnt/beta-Catenin and NF-kappaB signaling pathway., [RefSeq, PubMed]; LRFN2 gene variant rs2494938 provides susceptibility to esophageal cancer in the population of Jammu and Kashmir., [RefSeq, PubMed]; No significant association of variant rs2494938 of LRFN2 was observed with ovarian canceror breast cancer in a cohort of women in India., [RefSeq, PubMed]; Promotes neurite outgrowth in hippocampal neurons. Enhances the cell surface expression of 2 NMDA receptor subunits GRIN1 and GRIN2A. May play a role in redistributing DLG4 to the cell periphery (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Study demonstrated that the polymorphisms rs2494938 at 6p21.1 and rs2285947 at 7p15.3 may serve as independent prognostic biomarkers for ESCC, implying the potential biological role of their related genes (LRFN2 and DNAH11) in the process of ESCC development Publication Status: Online-Only, [RefSeq, 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": 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": 57, "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": "A5PKU3;Q5SYP9", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0098793 presynapse;GO:0098839 postsynaptic density membrane;GO:0098685 Schaffer collateral - CA1 synapse", "go_biological_process": "GO:0050804 modulation of chemical synaptic transmission;GO:0099175 regulation of postsynapse organization", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q9ULH4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A075B6K4-1", "uniprot_id": "LV310_HUMAN", "mass": 12441.0, "length": 115, "protein_name": "Immunoglobulin lambda variable 3-10", "gene_name": "IGLV3-10", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "IGLV3-10", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin lambda variable 3-10", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "11872955;17576170;20176268;22158414;24600447", "class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). 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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 431, "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": 0.6, "record_id": "A0A075B6K4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A075B6K6-1", "uniprot_id": "LV403_HUMAN", "mass": 13330.0, "length": 122, "protein_name": "Immunoglobulin lambda variable 4-3", "gene_name": "IGLV4-3", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "IGLV4-3", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin lambda variable 4-3", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "11872955;17576170;20176268;22158414;24600447", "class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). 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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 353, "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": 0.6, "record_id": "A0A075B6K6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A0A0MRZ9-1", "uniprot_id": "LV552_HUMAN", "mass": 13446.0, "length": 124, "protein_name": "Immunoglobulin lambda variable 5-52", "gene_name": "IGLV5-52", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "IGLV5-52", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin lambda variable 5-52", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "11872955;17576170;20176268;22158414;24600447;35051231", "class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). 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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 161, "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": 0.7, "record_id": "A0A0A0MRZ9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A0B4J1Y8-1", "uniprot_id": "LV949_HUMAN", "mass": 13024.0, "length": 123, "protein_name": "Immunoglobulin lambda variable 9-49", "gene_name": "IGLV9-49", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "IGLV9-49", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin lambda variable 9-49", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "11872955;17576170;18669648;20176268;22158414;24600447", "class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). 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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 400, "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": 0.7, "record_id": "A0A0B4J1Y8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NI73-1", "uniprot_id": "LIRA5_HUMAN", "mass": 32755.0, "length": 299, "protein_name": "Leukocyte immunoglobulin-like receptor subfamily A member 5", "gene_name": "LILRA5", "organism": "Human", "refseq_name": "leukocyte immunoglobulin-like receptor subfamily A member 5 isoform 1 precursor", "refseq_ac": "NP_067073", "gene_names_uniprotkb": "LILRA5; ILT11; LILRB7; LIR9", "gene_names_refseq": "CD85F; CD85; ILT-11; ILT11; LILRA5; LILRB7; LIR-9; LIR9", "protein_names_uniprotkb": "Leukocyte immunoglobulin-like receptor subfamily A member 5; CD85 antigen-like family member F; ILT-11; Immunoglobulin-like transcript 11; LIR-9; Leukocyte immunoglobulin-like receptor 9", "protein_names_refseq": "CD85 antigen-like family member F; immunoglobulin-like transcript 11 protein; leucocyte Ig-like receptor A5; leukocyte Ig-like receptor 9; leukocyte immunoglobulin-like receptor 9; leukocyte immunoglobulin-like receptor subfamily A member 5 isoform 1 precursor; leukocyte immunoglobulin-like receptor subfamily A member 5 soluble; leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5; leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:353514); (R-HSA-198933)", "pathway_count": 2, "publication_count": 85, "publication_id_list": "10499918;10746781;10941842;11265639;11489943;11513152;11556966;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12393390;12483297;12588680;14719373;14970179;15034010;15136729;15155468;15187158;15304001;15534202;15541655;15580655;15607800;15778510;15781451;15800062;15851719;15864273;16014749;16091383;16129954;16339513;16380601;16551255;16675463;16737824;16754721;16893496;16904340;16928187;17045824;17057721;17237375;17337780;18031695;18037897;18055229;18209062;18234675;18593354;19149696;19359216;19592130;20331378;20730098;21241660;21800138;21841309;21877119;22396535;23695528;23929856;24305946;25703557;25716998;26284469;26300885;32983136;33043033;35580925;38253038;7531291;7542404;8178173;8995416;9285412;9314561;9700512;9730896", "class_list": "", "function": "LILRA5/LIR9/ILT11 does not play a role in any MHCI recognition but could possibly bind to non-MHCI ligand(s) on the target cells to provide a novel immune regulation mechanism, [RefSeq, PubMed]; May play a role in triggering innate immune responses. Does not seem to play a role for any class I MHC antigen recognition., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The protein encoded by this gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family. LIR family members are known to have activating and inibitory functions in leukocytes. Crosslink of this receptor protein on the surface of monocytes has been shown to induce calcium flux and secretion of several proinflammatory cytokines, which suggests the roles of this protein in triggering innate immune responses. This gene is one of the leukocyte receptor genes that form a gene cluster on the chromosomal region 19q13.4. Four alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]., [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": 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": 16, "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": "A6NHI3", "ec_number_list": "", "go_molecular_function": "GO:0032396 inhibitory MHC class I receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0002767 immune response-inhibiting cell surface receptor signaling pathway;GO:0043410 positive regulation of MAPK cascade;GO:0045087 innate immune response;GO:0050867 positive regulation of cell activation;GO:0061098 positive regulation of protein tyrosine kinase activity", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "A6NI73-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NJW4-1", "uniprot_id": "LRR3C_HUMAN", "mass": 29314.0, "length": 275, "protein_name": "Leucine-rich repeat-containing protein 3C", "gene_name": "LRRC3C", "organism": "Human", "refseq_name": "leucine-rich repeat-containing protein 3C precursor", "refseq_ac": "NP_001182474", "gene_names_uniprotkb": "LRRC3C", "gene_names_refseq": "LRRC3C", "protein_names_uniprotkb": "Leucine-rich repeat-containing protein 3C", "protein_names_refseq": "leucine-rich repeat-containing protein 3C precursor; leucine-rich repeat-containing protein 3C; putative LRRC3-like protein ENSP00000367157", "tax_id": 9606, "disease": "allergic asthma (Disease Ontology:DOID:9415)", "pathway": " (hsa:100505591)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "26484354;29557506;33912179;35051231", "class_list": "", "function": "Based on our results and published findings on GSDMA, GSDMB, LRRC3C, and related proteins, we propose that this locus in part affects IBD susceptibility via effects on apoptosis and cell proliferation, [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": 0, "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": "", "ec_number_list": "", "go_molecular_function": "GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "A6NJW4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O15116-1", "uniprot_id": "LSM1_HUMAN", "mass": 15179.0, "length": 133, "protein_name": "U6 snRNA-associated Sm-like protein LSm1", "gene_name": "LSM1", "organism": "Human", "refseq_name": "U6 snRNA-associated Sm-like protein LSm1", "refseq_ac": "NP_055277", "gene_names_uniprotkb": "LSM1; CASM", "gene_names_refseq": "CASM; FICUS; LSM1; YJL124C", "protein_names_uniprotkb": "U6 snRNA-associated Sm-like protein LSm1; Cancer-associated Sm-like; Small nuclear ribonuclear CaSm", "protein_names_refseq": "LSM1 homolog, U6 small nuclear RNA associated; LSM1 mRNA degradation associated; LSM1, U6 small nuclear RNA associated; LSM1-like protein U6 small nuclear RNA associated; U6 snRNA-associated Sm-like protein LSm1; cancer-associated Sm protein; cancer-associated Sm-like protein; small nuclear ribonuclear CaSm", "tax_id": 9606, "disease": "FICUS syndrome (MONDO:MONDO:0978296)", "pathway": " (hsa:27257); (R-HSA-430039)", "pathway_count": 2, "publication_count": 47, "publication_id_list": "10369684;11237011;11283721;12218187;12417715;12486012;12515382;12923261;14749774;15085179;15231747;15475613;15711010;16051491;16141059;16246173;16299471;17001308;17245413;18039849;18172165;19061636;19239894;19279404;23186163;25418920;27920218;28063628;28228285;28832583;28904123;29242379;29393594;29632046;30315122;31844290;32157095;32265295;32387766;33592498;34019948;35494241;35580925;35692083;36100156;37995895;9230209", "class_list": "", "function": "Integrated analysis of pivotal biomarker of LSM1, immune cell infiltration and therapeutic drugs in breast cancer., [RefSeq, PubMed]; LSM1 is a breast cancer oncogene from the 8p11-12 amplicon., [RefSeq, PubMed]; Plays a role in the degradation of histone mRNAs, the only eukaryotic mRNAs that are not polyadenylated (PubMed:18172165). Probably also part of an LSm subunits-containing complex involved in the general process of mRNA degradation (By similarity)., [UniProtKB, PubMed, UniProtKB]; The role of LSM1 in breast cancer: Shaping metabolism and tumor-associated macrophage infiltration., [RefSeq, PubMed]; This gene encodes a member of the LSm family of RNA-binding proteins. LSm proteins form stable heteromers that bind specifically to the 3'-terminal oligo(U) tract of U6 snRNA and may play a role in pre-mRNA splicing by mediating U4/U6 snRNP formation. Increased expression of this gene may play a role in cellular transformation and the progression of several malignancies including lung cancer, mesothelioma and breast cancer. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [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": 3, "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": "B2R5E6", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000932 P-body;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0000290 deadenylation-dependent decapping of nuclear-transcribed mRNA;GO:0000375 RNA splicing, via transesterification reactions;GO:0006397 mRNA processing;GO:0008380 RNA splicing;GO:0071044 histone mRNA catabolic process", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "O15116-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P09848-1", "uniprot_id": "LPH_HUMAN", "mass": 218587.0, "length": 1927, "protein_name": "Lactase/phlorizin hydrolase", "gene_name": "LCT", "organism": "Human", "refseq_name": "lactase/phlorizin hydrolase preproprotein", "refseq_ac": "NP_002290", "gene_names_uniprotkb": "LCT; LPH", "gene_names_refseq": "LAC; LCT; LPH1; LPH", "protein_names_uniprotkb": "Lactase/phlorizin hydrolase; Lactase/glycosylceramidase; Phlorizin hydrolase", "protein_names_refseq": "lactase-glycosylceramidase; lactase-phlorizin hydrolase-1; lactase/phlorizin hydrolase preproprotein", "tax_id": 9606, "disease": "colitis (Disease Ontology:DOID:0060180); congenital lactase deficiency (Disease Ontology:DOID:0111646); diarrhea (Disease Ontology:DOID:13250); kidney disease (Disease Ontology:DOID:557)", "pathway": " (hsa:3938); (R-HSA-189085); (R-HSA-5659898)", "pathway_count": 3, "publication_count": 61, "publication_id_list": "10769135;10903344;11085997;11237011;11340066;11788828;12547908;1256470;12594539;12692040;14616060;14724820;15299664;16329100;16400612;16584180;1697585;18824549;1902057;19121318;19161632;19241384;19435888;19955176;20356844;2452973;2460343;24715725;25418920;27862975;28228285;28832583;29557506;31844290;3227291;33912179;34087483;35051231;35580925;36334882;36604367;36695417;37354976;3800897;38253929;3897250;3929764;4737205;5104075;5849827;6466686;7487100;7836450;7906143;807575;8609217;8951031;9427547;9446624;9593732;9762914", "class_list": "glycogene;glycosylhydrolase", "function": "Association of Estimated Daily Lactose Consumption, Lactase Persistence Genotype (rs4988235), and Gut Microbiota in Healthy Adults in the United States., [RefSeq, PubMed]; Broad specificity glycosidase of the intestinal brush border membrane that hydrolyzes lactose, the main sugar in mammalian milk, to produce D-glucose and D-galactose (PubMed:12594539, PubMed:16400612, PubMed:3929764, PubMed:9762914). The mature protein is composed of two domains that catalyze the hydrolysis of beta-glucopyranosides and beta-galactopyranosides, with a preference for hydrophilic aglycones (in lactose and cellobiose) for one domain and hydrophobic aglycones (in phlorizin and glycosylceramides) for the other (PubMed:12594539, PubMed:3929764, PubMed:9762914)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; DNA polymorphisms associated with lactase persistence, self-perceived symptoms of lactose intolerance, milk and dairy consumption, and ancestry, in the Uruguayan population., [RefSeq, PubMed]; Lactase persistence phenotype and genotype in Iranian Mazani-Shahmirzadi and Afghan Hazara ethnicities., [RefSeq, PubMed]; Milk intake, lactase persistence genotype, plasma proteins and risks of cardiovascular events in the Swedish general population., [RefSeq, PubMed]; The protein encoded by this gene belongs to the glycosyl hydrolase 1 family of proteins. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme is integral to the plasma membrane and has both phlorizin hydrolase activity and lactase activity. Mutations in this gene are associated with congenital lactase deficiency. Polymorphisms in this gene are associated with lactase persistence, in which intestinal lactase activity persists at childhood levels into adulthood. [provided by RefSeq, Jan 2016]., [RefSeq]; Variant of the lactase LCT gene explains association between milk intake and incident type 2 diabetes., [RefSeq, 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "reported_glycation": 0, "reported_snv": 2390, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 16, "binding_glycan_count": 0, "secondary_ac_list": "Q4ZG58", "ec_number_list": "3.2.1.21;3.2.1.108;3.2.1.62", "go_molecular_function": "GO:0004348 glucosylceramidase activity;GO:0008422 beta-glucosidase activity;GO:0042803 protein homodimerization activity;GO:0004336 galactosylceramidase activity;GO:0000016 lactase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0098591 external side of apical plasma membrane", "go_biological_process": "GO:0046477 glycosylceramide catabolic process;GO:0005990 lactose catabolic process;GO:1901733 quercetin catabolic process;GO:2000892 cellobiose catabolic process;GO:0005975 carbohydrate metabolic process", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "P09848-1", "record_type": "protein" }, { "uniprot_canonical_ac": "H3BQJ8-1", "uniprot_id": "LY6L_HUMAN", "mass": 15317.0, "length": 138, "protein_name": "Lymphocyte antigen 6L", "gene_name": "LY6L", "organism": "Human", "refseq_name": "lymphocyte antigen 6L preproprotein", "refseq_ac": "NP_001355089", "gene_names_uniprotkb": "LY6L", "gene_names_refseq": "LY6L", "protein_names_uniprotkb": "Lymphocyte antigen 6L; Lymphocyte antigen 6 complex locus protein L", "protein_names_refseq": "lymphocyte antigen 6 complex locus protein L; lymphocyte antigen 6L preproprotein; lymphocyte antigen 6L", "tax_id": 9606, "disease": "", "pathway": " (hsa:101928108)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "26811146", "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": 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": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0098552 side of membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "H3BQJ8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75342-1", "uniprot_id": "LX12B_HUMAN", "mass": 80356.0, "length": 701, "protein_name": "Arachidonate 12-lipoxygenase, 12R-type", "gene_name": "ALOX12B", "organism": "Human", "refseq_name": "arachidonate 12-lipoxygenase, 12R-type", "refseq_ac": "NP_001130", "gene_names_uniprotkb": "ALOX12B", "gene_names_refseq": "12R-LOX; ALOX12B; ARCI2", "protein_names_uniprotkb": "Arachidonate 12-lipoxygenase, 12R-type; 1.13.11.-; 12R-LOX; 12R-lipoxygenase; Epidermis-type lipoxygenase 12", "protein_names_refseq": "12R-lipoxygenase; arachidonate 12-lipoxygenase, 12R-type; epidermis-type lipoxygenase 12", "tax_id": 9606, "disease": "autosomal recessive congenital ichthyosis 2 (Disease Ontology:DOID:0060710)", "pathway": " (hsa:242); (R-HSA-2142712)", "pathway_count": 2, "publication_count": 35, "publication_id_list": "10692117;11115402;11237011;11350124;11773004;12881489;15629692;16116617;19131948;19890349;20068231;21558561;2217179;22441738;2318885;2377602;26370990;26374642;26992070;30397120;31844290;32253496;32938616;33435499;33607042;33981976;35051231;35768785;38060040;38665916;6816802;8334154;8428933;9618483;9837935", "class_list": "", "function": "A possible contribution of the SPNS2 variation to POI was not strictly ruled out, but various data presented in the text including reported association of variations in related gene ALOX12 with menopause-age and role of ALOX12B in atretic bovine follicle formation argue in favor of ALOX12B. It is, therefore, concluded that the mutation in ALOX12B is the likely cause of POI in the pedigree., [RefSeq, PubMed]; Catalyzes the regio and stereo-specific incorporation of a single molecule of dioxygen into free and esterified polyunsaturated fatty acids generating lipid hydroperoxides that can be further reduced to the corresponding hydroxy species (PubMed:21558561, PubMed:9618483, PubMed:9837935). In the skin, acts upstream of ALOXE3 on the lineolate moiety of esterified omega-hydroxyacyl-sphingosine (EOS) ceramides to produce an epoxy-ketone derivative, a crucial step in the conjugation of omega-hydroxyceramide to membrane proteins (PubMed:21558561). Therefore plays a crucial role in the synthesis of corneocytes lipid envelope and the establishment of the skin barrier to water loss (PubMed:21558561). May also play a role in the regulation of the expression of airway mucins (PubMed:22441738)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients. Publication Status: Online-Only, [RefSeq, PubMed]; Survival-related indicators ALOX12B and SPRR1A are associated with DNA damage repair and tumor microenvironment status in HPV 16-negative head and neck squamous cell carcinoma patients. Erratum:[BMC Cancer. 2022 Jul 11;22(1):755. doi: 10.1186/s12885-022-09865-x. PMID: 35820802] Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an enzyme involved in the conversion of arachidonic acid to 12R-hydroxyeicosatetraenoic acid. Mutations in this gene are associated with nonbullous congenital ichthyosiform erythroderma. [provided by RefSeq, Sep 2015]., [RefSeq]; Unbound Corneocyte Lipid Envelopes in 12R-Lipoxygenase Deficiency Support a Specific Role in Lipid-Protein Cross-Linking., [RefSeq, PubMed]; Whole exome sequencing identifies novel pathogenic variants in TGM1 and ALOX12B in patients with hereditary ichthyosis. 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": 21, "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": "1.13.11.-", "go_molecular_function": "GO:0005506 iron ion binding;GO:0016829 lyase activity;GO:0016853 isomerase activity;GO:0016702 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen;GO:0004052 arachidonate 12(S)-lipoxygenase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0016020 membrane;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0034440 lipid oxidation;GO:0010628 positive regulation of gene expression;GO:0043410 positive regulation of MAPK cascade;GO:0046513 ceramide biosynthetic process;GO:0061436 establishment of skin barrier", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "O75342-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P01229-1", "uniprot_id": "LSHB_HUMAN", "mass": 15345.0, "length": 141, "protein_name": "Lutropin subunit beta", "gene_name": "LHB", "organism": "Human", "refseq_name": "lutropin subunit beta precursor", "refseq_ac": "NP_000885", "gene_names_uniprotkb": "LHB", "gene_names_refseq": "CGB4; HH23; LHB; LSH-B; LSH-beta", "protein_names_uniprotkb": "Lutropin subunit beta; LH-B; LSH-B; LSH-beta; Luteinizing hormone subunit beta; Lutropin beta chain", "protein_names_refseq": "interstitial cell stimulating hormone, beta chain; luteinizing hormone beta polypeptide; luteinizing hormone beta subunit; lutropin beta chain; lutropin subunit beta precursor; lutropin subunit beta", "tax_id": 9606, "disease": "hypogonadotropic hypogonadism 23 with or without anosmia (Disease Ontology:DOID:0090091); severe acute respiratory syndrome (Disease Ontology:DOID:2945)", "pathway": " (hsa:3972); (R-HSA-193048); (R-HSA-193993); (R-HSA-209822); (R-HSA-375281); (R-HSA-418555); (R-HSA-975578)", "pathway_count": 7, "publication_count": 142, "publication_id_list": "10094192;10199775;10323405;10343104;10406467;10464296;10468997;10814706;10988300;11007482;11445554;11707068;11726197;11870227;1191677;12036966;12039074;12045258;12058044;12106601;12180353;12417412;12620433;1279965;12832414;12860470;1333190;13549488;14671004;1495492;1517224;15765929;15769620;15951850;16123088;16313925;16527410;16687412;16754854;1688430;16923326;1709010;17095587;1712709;17168849;17175120;1727547;1727817;17466984;17986282;18044684;18318566;18431515;18577758;19006286;19105585;1922095;1944309;1944596;19876791;19879888;1991473;19929708;19936164;20381629;21036126;2163110;21657270;2197970;2243100;2244890;2339109;2417744;24687066;2491850;2534550;2553411;2553705;2558651;25811175;25961201;26398856;26417854;26774084;2770297;2871555;29443750;29602314;30833991;3127824;31279028;31399091;31983287;3207614;32226383;32475064;32497535;32540603;32618402;32715661;33049737;34090968;34606618;3783591;38194289;4685398;4719207;6085243;6090951;6690982;6774759;7215288;7635144;7649152;7650030;7689962;7714098;7904610;8075637;8188646;8340388;8514797;8524845;8547185;8672451;8702611;8784083;8808595;9208814;9263355;9300077;9397933;9417641;9419371;9449621;9457942;9478973;9536209;9651336;9871428;9886510;9949196", "class_list": "", "function": "Elevated circulating luteinizing hormone levels are associated with diabetic macroalbuminuria in Chinese men and postmenopausal women: A cross-sectional study., [RefSeq, PubMed]; Proliferating primary pituitary cells as a model for studying regulation of gonadotrope chromatin and gene expression., [RefSeq, PubMed]; Promotes spermatogenesis and ovulation by stimulating the testes and ovaries to synthesize steroids., [UniProtKB]; Single molecule characterization of the binding kinetics of a transcription factor and its modulation by DNA sequence and methylation., [RefSeq, PubMed]; This gene is a member of the glycoprotein hormone beta chain family and encodes the beta subunit of luteinizing hormone (LH). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. LH is expressed in the pituitary gland and promotes spermatogenesis and ovulation by stimulating the testes and ovaries to synthesize steroids. The genes for the beta chains of chorionic gonadotropin and for luteinizing hormone are contiguous on chromosome 19q13.3. Mutations in this gene are associated with hypogonadism which is characterized by infertility and pseudohermaphroditism. [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": 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": 18, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 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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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, 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"class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). 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. 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"IGLV7-43", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "IGLV7-43", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin lambda variable 7-43; Ig lambda chain V region 4A", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-166663); (R-HSA-173623); (R-HSA-198933); (R-HSA-202733); (R-HSA-2029481); (R-HSA-2029482); (R-HSA-2029485); (R-HSA-2168880); (R-HSA-2454202); (R-HSA-2730905); (R-HSA-2871796); (R-HSA-2871809); (R-HSA-2871837); (R-HSA-5690714); (R-HSA-9664323); (R-HSA-9664422); (R-HSA-9679191); (R-HSA-977606); (R-HSA-983695)", "pathway_count": 19, "publication_count": 532, "publication_id_list": 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"class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). 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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 350, "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": "A0A0B4J1U2", "ec_number_list": "", "go_molecular_function": "GO:0003823 antigen binding", "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": 53.3, "record_id": "P04211-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P07098-1", "uniprot_id": "LIPF_HUMAN", "mass": 45238.0, "length": 398, "protein_name": "Gastric triacylglycerol lipase", "gene_name": "LIPF", "organism": "Human", "refseq_name": "gastric triacylglycerol lipase isoform 3 precursor", "refseq_ac": "NP_001185757", "gene_names_uniprotkb": "LIPF", "gene_names_refseq": "GL; HGL; HLAL; LIPF", "protein_names_uniprotkb": "Gastric triacylglycerol lipase; 3.1.1.3; GL; Gastric lipase", "protein_names_refseq": "gastric lipase; gastric triacylglycerol lipase isoform 3 precursor; gastric triacylglycerol lipase; lipase, gastric", "tax_id": 9606, "disease": "", "pathway": " (hsa:8513); (R-HSA-192456)", "pathway_count": 2, "publication_count": 18, "publication_id_list": "10358049;11040182;1379598;2243091;2318975;25059952;27498782;2753032;27893789;28694218;28904123;29557506;29632711;3304425;35051231;37938771;7350912;7350913", "class_list": "", "function": "Catalyzes the hydrolysis of triacylglycerols to yield free fatty acids, diacylglycerol, monoacylglycerol, and glycerol (PubMed:10358049, PubMed:2243091). Shows a preferential hydrolysis at the sn-3 position of triacylglycerol (PubMed:2243091)., [UniProtKB, PubMed, PubMed]; In patients with intrahepatic cholestasis of pregnancy, there was no elevation in LIPF mRNA in maternal circulation compared with controls., [RefSeq, PubMed]; LIPFDGKA might serve as a potential possible biomarkers for diagnosis of gastric cancer, and their downregulation may bring new perspective into the investigation of gastric cancer prognosis, [RefSeq, PubMed]; Site-directed mutagenesis the role of three key residues (K4, E225, R229) involved in salt bridges stabilizing the lid domain that controls the access to the active site and is part of the interfacial recognition site. Their substitution has an impact on the pH-dependent activity of rHGL and its relative activities on medium and long chain triglycerides., [RefSeq, PubMed]; This gene encodes gastric lipase, an enzyme involved in the digestion of dietary triglycerides in the gastrointestinal tract, and responsible for 30% of fat digestion processes occurring in human. It is secreted by gastric chief cells in the fundic mucosa of the stomach, and it hydrolyzes the ester bonds of triglycerides under acidic pH conditions. The gene is a member of a conserved gene family of lipases that play distinct roles in neutral lipid metabolism. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 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": 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": 0, "reported_glycation": 0, "reported_snv": 17, "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": "B7Z723;F5H1P4;Q2M1P6;Q5VXI7;Q5VXI8;Q658L8", "ec_number_list": "3.1.1.-;3.1.1.3;3.1.1.32;3.1.1.34;3.1.1.23;3.1.1.79;3.1.1.6;3.1.1.5;3.1.1.13;3.1.1.4;3.1.1.26;3.1.1.116;2.3.1.51", "go_molecular_function": "GO:0008289 lipid binding;GO:0004806 triacylglycerol lipase activity;GO:0016615 malate dehydrogenase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005739 mitochondrion", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0006641 triglyceride metabolic process;GO:0016042 lipid catabolic process", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "P07098-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DM35-1", "uniprot_id": "M1BL1_HUMAN", "mass": 6094.0, "length": 61, "protein_name": "Metallothionein 1H-like protein 1", "gene_name": "MT1HL1", "organism": "Human", "refseq_name": "metallothionein 1H-like protein 1", "refseq_ac": "NP_001263616", "gene_names_uniprotkb": "MT1HL1", "gene_names_refseq": "MT1HL1; MT1P2", "protein_names_uniprotkb": "Metallothionein 1H-like protein 1", "protein_names_refseq": "MT-1H-like protein; metallothionein 1H-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:645745)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids., [UniProtKB]; This gene is a retrotransposed gene, compared to MT1H (GeneID:4496). This retrogene is transcribed. It retains a full-length CDS, and is assumed to be translated. Compared to the MT1H product, this protein product differs at three internal amino acids, two of which are at metal-binding sites. [provided by RefSeq, Mar 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": 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:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0071276 cellular response to cadmium ion;GO:0071280 cellular response to copper ion;GO:0010273 detoxification of copper ion;GO:0006882 intracellular zinc ion homeostasis;GO:0071294 cellular response to zinc ion", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "P0DM35-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P16050-1", "uniprot_id": "LOX15_HUMAN", "mass": 74804.0, "length": 662, "protein_name": "Polyunsaturated fatty acid lipoxygenase ALOX15", "gene_name": "ALOX15", "organism": "Human", "refseq_name": "polyunsaturated fatty acid lipoxygenase ALOX15", "refseq_ac": "NP_001131", "gene_names_uniprotkb": "ALOX15; LOG15", "gene_names_refseq": "12-LOX; 15-LOX-1; 15-LOX; ALOX15; LOG15", "protein_names_uniprotkb": "Polyunsaturated fatty acid lipoxygenase ALOX15; 1.13.11.-; 1.13.11.12; 1.13.11.31; 1.13.11.33; 12-LOX; 12/15-lipoxygenase; 15-LOX-1; 15-LOX; Arachidonate 12-lipoxygenase, leukocyte-type; Arachidonate 15-lipoxygenase; Arachidonate omega-6 lipoxygenase; Hepoxilin A3 synthase Alox15; Linoleate 13S-lipoxygenase", "protein_names_refseq": "12/15-lipoxygenase; 15-LOX type 1; 15-lipooxygenase-1; 15-lipoxygenase type 1; arachidonate 12-lipoxygenase, leukocyte-type; arachidonate omega-6 lipoxygenase; hepoxilin A3 synthase Alox15; linoleate 13S-lipoxygenase; polyunsaturated fatty acid lipoxygenase ALOX15", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); brain ischemia (Disease Ontology:DOID:2316); glomerulonephritis (Disease Ontology:DOID:2921); congestive heart failure (Disease Ontology:DOID:6000)", "pathway": " (hsa:246); (R-HSA-2142691); (R-HSA-2142712); (R-HSA-2142770); (R-HSA-6785807); (R-HSA-9018677); (R-HSA-9018681); (R-HSA-9018896); (R-HSA-9023661); (R-HSA-9025106); (R-HSA-9026286)", "pathway_count": 11, "publication_count": 210, "publication_id_list": "10023775;10064732;10219247;10369418;10510379;10586089;10692117;10779545;10867011;11058569;11084045;11104795;11115402;11120780;11278437;11278729;11356008;11404481;11418015;11463377;11839751;11844797;11960372;12223527;12242343;12391014;12590139;12600988;12832402;12881489;1359745;14634100;14712222;15116091;15261459;15584925;15604543;15629692;15805299;15869882;15950906;16007214;16048438;16107692;16205632;16236134;16397018;16424216;16451196;16510571;16540365;16606674;1662607;16757471;16795963;17052953;17055291;17114001;17244615;17427945;17458857;17572495;17662651;17959182;18184802;18243101;18292578;18353781;18447642;1848634;18570379;18644974;18647347;18755188;19103881;19124156;19185846;19324874;19397496;1944593;19528634;19679107;19743890;19818771;20364438;20436887;20493732;21102457;21206090;21252155;21447318;2147774;21558561;21689689;21730069;21831839;21867913;21937440;21994466;22046235;2217179;22205702;22275352;22383755;22450811;22693070;22851691;22864639;23076889;23086340;23124025;23172665;2318885;23242647;23293324;23455323;23471029;23504711;23555662;23736886;2377602;23956430;23967200;24097101;24282679;24571431;24576195;24743777;2501828;25036362;25234944;25247845;25293588;26370990;26580578;26878209;27046942;2753893;27543614;2768222;2836406;2864155;2866075;2877850;2882965;28980694;29133059;29557506;29789417;2995393;3006030;3020588;30315122;30669;30779550;31154438;3118366;3164719;3202857;32404334;32983136;33043033;33298915;33392160;3356688;35051231;35318648;3563417;37716021;37849828;37874359;38641013;38685084;3933675;6122208;6293969;6490615;6816802;7510216;7512451;7529288;7568157;7795521;7796300;7898939;7907877;7937884;8052639;8085155;8334154;8394361;8428933;8576264;8602263;8621622;8663118;8668165;8797861;8816495;9013879;9224951;9414270;9461497;9618483;9651359;9700053;9723655;9736340;9822675;9874564", "class_list": "", "function": "15-lipoxygenase and cyclooxygenase expression profile and their related modulators in COVID-19 infection., [RefSeq, PubMed]; A review on the relationship between Arachidonic acid 15-Lipoxygenase (ALOX15) and diabetes mellitus. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Association between arachidonate lipoxygenase 15,c.-292 C > T gene polymorphism and non-cystic fibrosis bronchiectasis in children: a pilot study on the effects on airway lipoxin A4 and disease phenotype. Publication Status: Online-Only, [RefSeq, PubMed]; Epigenetic regulation of 15-lipoxygenase-1 expression in human chondrocytes by promoter methylation., [RefSeq, PubMed]; Identifying ALOX15-initiated lipid peroxidation increases susceptibility to ferroptosis in asthma epithelial cells., [RefSeq, PubMed]; Non-heme iron-containing dioxygenase that catalyzes the stereo-specific peroxidation of free and esterified polyunsaturated fatty acids generating a spectrum of bioactive lipid mediators (PubMed:17052953, PubMed:1944593, PubMed:24282679, PubMed:25293588, PubMed:32404334, PubMed:8334154). It inserts peroxyl groups at C12 or C15 of arachidonate ((5Z,8Z,11Z,14Z)-eicosatetraenoate) producing both 12-hydroperoxyeicosatetraenoate/12-HPETE and 15-hydroperoxyeicosatetraenoate/15-HPETE (PubMed:17052953, PubMed:1944593, PubMed:24282679, PubMed:8334154). It may then act on 12-HPETE to produce hepoxilins, which may show pro-inflammatory properties (By similarity). Can also peroxidize linoleate ((9Z,12Z)-octadecadienoate) to 13-hydroperoxyoctadecadienoate/13-HPODE (PubMed:8334154). May participate in the sequential oxidations of DHA ((4Z,7Z,10Z,13Z,16Z,19Z)-docosahexaenoate) to generate specialized pro-resolving mediators (SPMs)like resolvin D5 ((7S,17S)-diHPDHA) and (7S,14S)-diHPDHA, that actively down-regulate the immune response and have anti-aggregation properties with platelets (PubMed:32404334). Can convert epoxy fatty acids to hydroperoxy-epoxides derivatives followed by an intramolecular nucleophilic substitution leading to the formation of monocyclic endoperoxides (PubMed:25293588). Plays an important role during the maintenance of self-tolerance by peroxidizing membrane-bound phosphatidylethanolamine which can then signal the sorting process for clearance of apoptotic cells during inflammation and prevent an autoimmune response. In addition to its role in the immune and inflammatory responses, this enzyme may play a role in epithelial wound healing in the cornea through production of lipoxin A4 (LXA(4)) and docosahexaenoic acid-derived neuroprotectin D1 (NPD1; 10R,17S-HDHA), both lipid autacoids exhibit anti-inflammatory and neuroprotective properties. Furthermore, it may regulate actin polymerization which is crucial for several biological processes such as the phagocytosis of apoptotic cells. It is also implicated in the generation of endogenous ligands for peroxisome proliferator activated receptor (PPAR-gamma), hence modulating macrophage development and function. It may also exert a negative effect on skeletal development by regulating bone mass through this pathway. As well as participates in ER stress and downstream inflammation in adipocytes, pancreatic islets, and liver (By similarity). Finally, it is also involved in the cellular response to IL13/interleukin-13 (PubMed:21831839)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed]; This gene encodes a member of the lipoxygenase family of proteins. The encoded enzyme acts on various polyunsaturated fatty acid substrates to generate various bioactive lipid mediators such as eicosanoids, hepoxilins, lipoxins, and other molecules. The encoded enzyme and its reaction products have been shown to regulate inflammation and immunity. Multiple pseudogenes of this gene have been identified in the human genome. [provided by RefSeq, Aug 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": 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": "A8K2P4;B7ZA11;Q8N6R7;Q99657", "ec_number_list": "1.13.11.-;1.13.11.33;1.13.11.34;3.6.4.10;1.13.11.31;1.13.11.12", "go_molecular_function": "GO:0005506 iron ion binding;GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0004052 arachidonate 12(S)-lipoxygenase activity;GO:0016165 linoleate 13S-lipoxygenase activity;GO:0050473 arachidonate 15-lipoxygenase activity", "go_cellular_component": "GO:0005811 lipid droplet;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0009898 cytoplasmic side of plasma membrane", "go_biological_process": "GO:0034440 lipid oxidation;GO:0006629 lipid metabolic process;GO:0006954 inflammatory response;GO:0070374 positive regulation of ERK1 and ERK2 cascade;GO:0043651 linoleic acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 21.1, "record_id": "P16050-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P16233-1", "uniprot_id": "LIPP_HUMAN", "mass": 51157.0, "length": 465, "protein_name": "Pancreatic triacylglycerol lipase", "gene_name": "PNLIP", "organism": "Human", "refseq_name": "pancreatic triacylglycerol lipase precursor", "refseq_ac": "NP_000927", "gene_names_uniprotkb": "PNLIP", "gene_names_refseq": "PL; PNLIPD; PNLIP; PTL", "protein_names_uniprotkb": "Pancreatic triacylglycerol lipase; 3.1.1.3; PL; PTL; Pancreatic lipase", "protein_names_refseq": "pancreatic triacylglycerol lipase precursor; pancreatic triacylglycerol lipase; triacylglycerol acylhydrolase", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970); pancreatic triacylglycerol lipase deficiency (MONDO:MONDO:0013700)", "pathway": " (hsa:5406); (R-HSA-192456); (R-HSA-975634); (R-HSA-9925561)", "pathway_count": 4, "publication_count": 64, "publication_id_list": "10052934;10358049;10769148;11040182;11060341;11181758;11274389;1279089;1379598;1522902;15358783;1542003;15583000;16200213;16939223;17401110;17525477;17644776;18087047;18295589;18460466;18507396;1856611;19014918;19139408;2106079;21106934;21851338;2318975;24106281;24262094;24715725;2479644;25862608;26494624;2793848;29242379;29557506;33968037;35051231;36583522;3714052;37270400;38081381;38485544;3942763;4345202;5057882;5675424;6420172;6961410;7350912;7350913;7683668;7893686;8017323;8029213;8384721;8406023;8479519;8728311;9888420;9920938;9925661", "class_list": "", "function": "Exploring the enigmatic association between PNLIP variants and risk of chronic pancreatitis in a large Chinese cohort., [RefSeq, PubMed]; Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitis., [RefSeq, PubMed]; In vitro anti-obesity activity by pancreatic lipase inhibition - Simple HPLC approach using EVOO as natural substrate., [RefSeq, PubMed]; Pancreatic lipase and its related proteins: where are we now? Review article, [RefSeq, PubMed]; Plays an important role in fat metabolism. It preferentially splits the esters of long-chain fatty acids at positions 1 and 3, producing mainly 2-monoacylglycerol and free fatty acids, and shows considerably higher activity against insoluble emulsified substrates than against soluble ones., [UniProtKB, PubMed, PubMed]; This gene encodes a member of the lipase family of proteins. The encoded enzyme is secreted by the pancreas and hydrolyzes triglycerides in the small intestine, and is essential for the efficient digestion of dietary fats. Inhibition of the encoded enzyme may prevent high-fat diet-induced obesity in mice and result in weight loss in human patients with obesity. Mutations in this gene cause congenital pancreatic lipase deficiency, a rare disorder characterized by steatorrhea. [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": 23, "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": "Q5VSQ2", "ec_number_list": "3.1.1.-;3.1.1.3;3.1.1.4;3.2.1.1;3.1.1.32;3.1.1.34;3.4.21.35;3.4.21.4;4.6.1.18;3.4.21.71;3.4.21.70;3.1.1.23;3.1.1.79;3.1.1.6;3.1.1.5;3.4.17.1;3.4.17.2;3.1.1.13;3.4.21.-;3.4.17.15;3.1.1.26;5.3.4.1;2.1.1.20;3.1.1.116;3.4.21.2;2.3.1.51", "go_molecular_function": "GO:0016298 lipase activity;GO:0046872 metal ion binding;GO:0008970 phospholipase A1 activity;GO:0004806 triacylglycerol lipase activity;GO:0004465 lipoprotein lipase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0006633 fatty acid biosynthetic process;GO:0034375 high-density lipoprotein particle remodeling;GO:0042632 cholesterol homeostasis;GO:0019433 triglyceride catabolic process", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "P16233-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P23490-1", "uniprot_id": "LORI_HUMAN", "mass": 25761.0, "length": 312, "protein_name": "Loricrin", "gene_name": "LORICRIN", "organism": "Human", "refseq_name": "loricrin", "refseq_ac": "NP_000418", "gene_names_uniprotkb": "LORICRIN; LOR; LRN", "gene_names_refseq": "LORICRIN; LOR", "protein_names_uniprotkb": "Loricrin", "protein_names_refseq": "loricrin", "tax_id": 9606, "disease": "loricrin keratoderma (MONDO:MONDO:0011396)", "pathway": " (hsa:4014); (R-HSA-6809371); (R-HSA-9725554)", "pathway_count": 3, "publication_count": 67, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11350120;11380615;11590230;12067728;12072018;12615358;12624109;12902340;1355480;15033990;15140226;15234001;15337775;15556625;15675955;15780751;15797384;15803139;16061697;16297201;16639001;17330888;17515931;17562024;17596512;18843291;19190773;19194479;19924134;2007607;20179351;20657595;20667819;20940292;21439340;21654840;21997417;22735594;23283814;23629652;24794495;25926655;26340985;26374642;26390218;30905808;31056744;31322196;31399284;32751111;34087483;35051231;35346558;35580925;37298411;7543090;8824274;8999895;9326323;9395522;9565599", "class_list": "", "function": "Epidermal autophagy and beclin 1 regulator 1 and loricrin: a paradigm shift in the prognostication and stratification of the American Joint Committee on Cancer stage I melanomas., [RefSeq, PubMed]; Major keratinocyte cell envelope protein., [UniProtKB]; Regulation of Filaggrin, Loricrin, and Involucrin by IL-4, IL-13, IL-17A, IL-22, AHR, and NRF2: Pathogenic Implications in Atopic Dermatitis. Review article Publication Status: Online-Only, [RefSeq, PubMed]; S100A8 and S100A9 decreased the expression of skin barrier proteins, filaggrin and loricrin., [RefSeq, PubMed]; The Epidermal Transcriptome Analysis of a Novel c.639_642dup LORICRIN Variant-Delineation of the Loricrin Keratoderma Pathology. Publication Status: Online-Only, [RefSeq, PubMed]; The c.323 G>C mutation in LORICRIN causes new-found late-onset autosomal dominant loricrin keratoderma in a Chinese Han Pedigree., [RefSeq, PubMed]; This gene encodes loricrin, a major protein component of the cornified cell envelope found in terminally differentiated epidermal cells. Mutations in this gene are associated with Vohwinkel's syndrome and progressive symmetric erythrokeratoderma, both inherited skin diseases. [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": 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": "Q5T869;Q5XKF8", "ec_number_list": "", "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0030280 structural constituent of skin epidermis", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0001533 cornified envelope", "go_biological_process": "GO:0031424 keratinization;GO:0030216 keratinocyte differentiation;GO:0018149 peptide cross-linking", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "P23490-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P43657-1", "uniprot_id": "LPAR6_HUMAN", "mass": 39392.0, "length": 344, "protein_name": "Lysophosphatidic acid receptor 6", "gene_name": "LPAR6", "organism": "Human", "refseq_name": "lysophosphatidic acid receptor 6", "refseq_ac": "NP_001155969", "gene_names_uniprotkb": "LPAR6; P2RY5", "gene_names_refseq": "ARWH1; HYPT8; LAH3; LPA-6; LPAR6; P2RY5; P2Y5", "protein_names_uniprotkb": "Lysophosphatidic acid receptor 6; LPA receptor 6; LPA-6; Oleoyl-L-alpha-lysophosphatidic acid receptor; P2Y purinoceptor 5; P2Y5; Purinergic receptor 5; RB intron encoded G protein-coupled receptor", "protein_names_refseq": "G-protein coupled purinergic receptor P2Y5; LPA receptor 6; P2Y purinoceptor 5; RB intron encoded G-protein coupled receptor; lysophosphatidic acid receptor 6; oleoyl-L-alpha-lysophosphatidic acid receptor; purinergic receptor 5; purinergic receptor P2Y G protein-coupled protein 5; purinergic receptor P2Y, G-protein coupled, 5", "tax_id": 9606, "disease": "hypotrichosis 8 (Disease Ontology:DOID:0110705)", "pathway": " (hsa:10161); (R-HSA-416476); (R-HSA-417957)", "pathway_count": 3, "publication_count": 85, "publication_id_list": "10191087;10567430;10727532;10753868;10861009;11004484;11015615;11156592;11196645;11546776;11742120;11753430;12120503;12386137;12458155;15199474;15951850;16182515;16268477;16268778;16339447;16754659;16774927;16923326;16990797;17166850;18297070;18297072;18434541;18461368;18466763;18515384;18577758;18692127;18936096;1905813;19292720;19339661;19552634;21070332;21426374;23890048;24393016;24414167;26194851;26758983;26992070;27694321;27862975;28089137;2841328;28425126;28832583;29242379;29557506;30429286;30779550;3086311;31154438;31844290;31848261;32321639;33017051;3304967;33141586;34769557;35051231;35580925;36173926;38676926;7902321;7937899;8159738;8537336;8664309;8666290;8670200;8720746;8889552;9223435;9240460;9305846;9364473;9405388;9770463", "class_list": "", "function": "A distinctive protein signature induced by lysophosphatidic acid receptor 6 (LPAR6) expression in hepatocellular carcinoma cells., [RefSeq, PubMed]; Autosomal recessive woolly hair and hypotrichosis in two Caucasian dizygotic twins. Description of a novel biallelic mutation in the LPAR6 gene., [RefSeq, PubMed]; Binds to oleoyl-L-alpha-lysophosphatidic acid (LPA). Intracellular cAMP is involved in the receptor activation. Important for the maintenance of hair growth and texture., [UniProtKB, PubMed]; Cell-trafficking impairment in disease-associated LPA6 missense mutants and a potential pharmacoperone therapy for autosomal recessive woolly hair/hypotrichosis., [RefSeq, PubMed]; Expression of turkey (Meleagris gallopavo) 6H1/p2y5 receptor in human astrocytoma cells and measurement of second mesenger levels indicate it is not a member of the P2Y receptor family., [RefSeq, PubMed]; Loss of LPAR6 and CAB39L dysregulates the basal-to-luminal urothelial differentiation program, contributing to bladder carcinogenesis., [RefSeq, PubMed]; Lysophosphatidic Acid Receptor 6 (LPAR6) Is a Potential Biomarker Associated with Lung Adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the family of G-protein coupled receptors, that are preferentially activated by adenosine and uridine nucleotides. This gene aligns with an internal intron of the retinoblastoma susceptibility gene in the reverse orientation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 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": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 10, "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": "A4FTW9;B3KVF2;F2YGU4;O15133;Q3KPF5;Q53FA0;Q5VW44;Q7Z3S0;Q7Z3S6", "ec_number_list": "", "go_molecular_function": "GO:0070915 lysophosphatidic acid receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "P43657-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q17RR3-1", "uniprot_id": "LIPR3_HUMAN", "mass": 52254.0, "length": 467, "protein_name": "Pancreatic lipase-related protein 3", "gene_name": "PNLIPRP3", "organism": "Human", "refseq_name": "pancreatic lipase-related protein 3 precursor", "refseq_ac": "NP_001011709", "gene_names_uniprotkb": "PNLIPRP3", "gene_names_refseq": "PNLIPRP3", "protein_names_uniprotkb": "Pancreatic lipase-related protein 3; 3.1.1.3; PL-RP3", "protein_names_refseq": "PL-RP3; pancreatic lipase-related protein 3 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:119548); (R-HSA-192456)", "pathway_count": 2, "publication_count": 12, "publication_id_list": "10358049;11040182;1379598;19640199;23090970;2318975;24190977;32265295;35051231;37074911;7350912;7350913", "class_list": "", "function": "Hydrolyzes triglycerides into diglycerides and subsequently into monoglycerides and free fatty acids., [UniProtKB, UniProtKB]; Over expression of pancreatic lipase-related protein 3 is associated with hepatocellular carcinoma., [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": 28, "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": "", "ec_number_list": "3.1.1.-;3.1.1.3;3.1.1.32;3.1.1.34;3.1.1.23;3.1.1.79;3.1.1.6;3.1.1.5;3.1.1.13;3.1.1.4;3.1.1.26;3.1.1.116;2.3.1.51", "go_molecular_function": "GO:0008970 phospholipase A1 activity;GO:0004465 lipoprotein lipase activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0006633 fatty acid biosynthetic process;GO:0034375 high-density lipoprotein particle remodeling;GO:0042632 cholesterol homeostasis;GO:0019433 triglyceride catabolic process", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q17RR3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3C1V0-1", "uniprot_id": "M4A18_HUMAN", "mass": 41990.0, "length": 398, "protein_name": "Membrane-spanning 4-domains subfamily A member 18", "gene_name": "MS4A18", "organism": "Human", "refseq_name": "membrane-spanning 4-domains subfamily A member 18", "refseq_ac": "NP_001341400", "gene_names_uniprotkb": "MS4A18", "gene_names_refseq": "MS4A18", "protein_names_uniprotkb": "Membrane-spanning 4-domains subfamily A member 18", "protein_names_refseq": "membrane-spanning 4-domains subfamily A member 18", "tax_id": 9606, "disease": "", "pathway": " (hsa:728588)", "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": "H0YCH9", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q3C1V0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q538Z0-1", "uniprot_id": "LUZP6_HUMAN", "mass": 6437.0, "length": 58, "protein_name": "Leucine zipper protein 6", "gene_name": "LUZP6", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "LUZP6; MPD6", "gene_names_refseq": "", "protein_names_uniprotkb": "Leucine zipper protein 6; Myeloproliferative disease-associated 6 kDa antigen", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 4, "publication_id_list": "16982933;29557506;35289036;37340703", "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": "K7EQW5", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q538Z0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5J8X5-1", "uniprot_id": "M4A13_HUMAN", "mass": 17307.0, "length": 152, "protein_name": "Membrane-spanning 4-domains subfamily A member 13", "gene_name": "MS4A13", "organism": "Human", "refseq_name": "membrane-spanning 4-domains subfamily A member 13 isoform 1", "refseq_ac": "NP_001012417", "gene_names_uniprotkb": "MS4A13", "gene_names_refseq": "MS4A13", "protein_names_uniprotkb": "Membrane-spanning 4-domains subfamily A member 13; Testis-expressed transmembrane protein 4", "protein_names_refseq": "membrane-spanning 4-domains subfamily A member 13 isoform 1; membrane-spanning 4-domains subfamily A member 13; testis-expressed transmembrane protein 4; testis-expressed transmembrane-4 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:503497)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;34087483", "class_list": "", "function": "May be involved in signal transduction as a component of a multimeric receptor 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": "B2RTS9;Q5J8X3;Q5J8X4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q5J8X5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VXJ0-1", "uniprot_id": "LIPK_HUMAN", "mass": 45563.0, "length": 399, "protein_name": "Lipase member K", "gene_name": "LIPK", "organism": "Human", "refseq_name": "lipase member K isoform 1 precursor", "refseq_ac": "NP_001073987", "gene_names_uniprotkb": "LIPK; LIPL2", "gene_names_refseq": "LIPK; LIPL2; bA186O14.2", "protein_names_uniprotkb": "Lipase member K; 3.1.1.-; Lipase-like abhydrolase domain-containing protein 2", "protein_names_refseq": "lipase K; lipase member K isoform 1 precursor; lipase member K; lipase-like abhydrolase domain-containing protein 2; lipase-like, ab-hydrolase domain containing 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:643414); (R-HSA-6809371)", "pathway_count": 2, "publication_count": 43, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11350120;11380615;11590230;12902340;15033990;15337775;15797384;15803139;16061697;16639001;17515931;17562024;17596512;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23629652;25926655;26390218;28218747;28904123;29393594;29557506;29741879;35051231;7543090;8824274;8999895;9395522;9565599", "class_list": "", "function": "Plays a highly specific role in the last step of keratinocyte differentiation. May have an essential function in lipid metabolism of the most differentiated epidermal layers., [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": 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": 9015, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A7KIH8", "ec_number_list": "3.1.1.13;3.1.1.3;3.1.1.-", "go_molecular_function": "GO:0016298 lipase activity;GO:0004465 lipoprotein lipase activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0016042 lipid catabolic process;GO:0070268 cornification", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q5VXJ0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6UWE0-1", "uniprot_id": "LRSM1_HUMAN", "mass": 83594.0, "length": 723, "protein_name": "E3 ubiquitin-protein ligase LRSAM1", "gene_name": "LRSAM1", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase LRSAM1 isoform 1", "refseq_ac": "NP_001005373", "gene_names_uniprotkb": "LRSAM1; PRO21356; TAL", "gene_names_refseq": "CMT2P; LRSAM1; RIFLE; TAL", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase LRSAM1; 2.3.2.27; Leucine-rich repeat and sterile alpha motif-containing protein 1; RING-type E3 ubiquitin transferase LRSAM1; Tsg101-associated ligase; hTAL", "protein_names_refseq": "E3 ubiquitin-protein ligase LRSAM1 isoform 1; E3 ubiquitin-protein ligase LRSAM1; RING finger leucine repeat rich; RING-type E3 ubiquitin transferase LRSAM1; Tsg101-associated ligase", "tax_id": 9606, "disease": "Charcot-Marie-Tooth disease axonal type 2P (Disease Ontology:DOID:0110169)", "pathway": " (hsa:90678); (R-HSA-983168)", "pathway_count": 2, "publication_count": 107, "publication_id_list": "10.1038/emboj.2013.79;11062501;11237011;11350924;12646216;12975309;14635195;14734113;15224091;15224092;15256501;15571818;16595681;16849449;16954532;17556548;18077552;18662542;18669648;18991276;19028597;19352404;19452197;19489725;19851334;19874575;19940261;20068231;20616063;20865121;21993680;22012984;2261476;23245322;23481700;23584533;24715725;25484098;25505266;25576301;26154972;26375851;26992070;27090790;27615052;27686364;27846572;27862975;27920218;28063628;28832583;28855257;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30410026;30429286;30573663;30779550;30833945;31154438;31530632;31844290;31848261;31937595;31998317;32157095;32265295;32350084;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33633747;33691108;33717175;33936100;33968037;33981976;34171305;34357683;34932366;35051231;35251023;35318648;35580925;35842440;35922214;36010968;36241641;37217939;38330802;38665916;9380723;9668046", "class_list": "", "function": "A novel mutation in the LRSAM1 gene in a family with early onset autosomal dominant Charcot-Marie-Tooth type 2P., [RefSeq, PubMed]; C698R mutation in Lrsam1 gene impairs nerve regeneration in a CMT2P mouse model. Publication Status: Online-Only, [RefSeq, PubMed]; E3 ubiquitin-protein ligase that mediates monoubiquitination of TSG101 at multiple sites, leading to inactivate the ability of TSG101 to sort endocytic (EGF receptors) and exocytic (HIV-1 viral proteins) cargos (PubMed:15256501). Bacterial recognition protein that defends the cytoplasm from invasive pathogens (PubMed:23245322). Localizes to several intracellular bacterial pathogens and generates the bacteria-associated ubiquitin signal leading to autophagy-mediated intracellular bacteria degradation (xenophagy) (PubMed:23245322, PubMed:25484098)., [UniProtKB, PubMed, PubMed, PubMed]; LRSAM1 as a component of the antibacterial autophagic response., [RefSeq, PubMed]; Results suggest that RIFLE represents a novel signaling protein that mediates components of the Wnt/wingless signaling pathway and cell adhesion in PC12 cells [RIFLE protein]., [RefSeq, PubMed]; Tal polyubiquitinates lysine residues in the C-terminus of uncomplexed Tsg101, resulting in proteasomal degradation., [RefSeq, PubMed]; Tal regulates a Tsg101-associated complex responsible for the sorting of cargo into cytoplasm-containing vesicles that bud at the multivesicular body and at the plasma membrane, [RefSeq, PubMed]; This gene encodes a ring finger protein involved in a variety of functions, including regulation of signaling pathways and cell adhesion, mediation of self-ubiquitylation, and involvement in cargo sorting during receptor endocytosis. Mutations in this gene have been associated with Charcot-Marie-Tooth disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jan 2012]., [RefSeq]; [Novel MFN2, BSCL2 and LRSAM1 variants in a cohort of Chinese patients with Charcot-Marie-Tooth disease]., [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": 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": 3, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 14, "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": "Q5VVV0;Q8NB40;Q96GT5;Q96MX5;Q96MZ7", "ec_number_list": "2.3.2.24;2.3.2.23;2.3.2.26;2.3.2.27;2.3.2.31;2.3.2.-;6.2.1.-;2.3.2.34;2.3.2.32;3.6.4.-;2.3.2.25;2.3.2.36;2.7.11.1", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "GO:0045806 negative regulation of endocytosis;GO:0006914 autophagy;GO:0000209 protein polyubiquitination;GO:0051865 protein autoubiquitination;GO:0030163 protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 11.2, "record_id": "Q6UWE0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NI22-1", "uniprot_id": "MCFD2_HUMAN", "mass": 16390.0, "length": 146, "protein_name": "Multiple coagulation factor deficiency protein 2", "gene_name": "MCFD2", "organism": "Human", "refseq_name": "multiple coagulation factor deficiency protein 2 isoform A precursor", "refseq_ac": "NP_001164977", "gene_names_uniprotkb": "MCFD2; SDNSF", "gene_names_refseq": "F5F8D2; F5F8D; LMAN1IP; MCFD2; SDNSF", "protein_names_uniprotkb": "Multiple coagulation factor deficiency protein 2; Neural stem cell-derived neuronal survival protein", "protein_names_refseq": "multiple coagulation factor deficiency protein 2 isoform A precursor; neural stem cell-derived neuronal survival protein", "tax_id": 9606, "disease": "transient cerebral ischemia (Disease Ontology:DOID:224); factor 5 and Factor VIII, combined deficiency of, 2 (MONDO:MONDO:0013331)", "pathway": " (hsa:90411); (R-HSA-204005); (R-HSA-5694530); (R-HSA-948021)", "pathway_count": 4, "publication_count": 138, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10445031;10559958;10559959;10652252;10679020;10747087;10788476;10825291;10903204;10982397;11035026;11237011;11285137;11306556;11927603;12070132;12235121;12237308;12717434;12727195;15037235;16044454;16129679;16303754;16495487;16624868;16912714;17005010;17010120;17038314;17192411;17287728;17316621;17499046;17562788;17607000;17684057;18025080;18283111;18287528;18590741;18685427;18843296;19164740;19265014;19269366;19566487;19638414;19656848;20138881;20142513;20427317;20477988;20491958;20533886;20545907;20679433;20805473;20966969;21478858;21525241;21532587;21689688;21878990;22013193;22157747;22661428;22675024;23378591;23479643;23584533;23698585;23852824;23864707;24119662;24917561;25202031;25406594;25418920;25492864;25586378;25619252;25619253;25813380;26811146;26992070;27846572;28832583;28834231;29242379;29393594;29557506;29786170;29789417;30192525;30315122;30459171;30484775;31154438;31611695;31844290;31848261;32157095;32265295;32350084;32357974;32387766;32488085;32897882;32938616;33392160;33592498;33968037;33981976;34171305;34357683;34433824;34509645;34932366;35051231;35251023;35322856;35580925;36215666;36241641;36284347;8221884;8620540;8663406;9094723;9150144;9177194;9307973;9395526;9472029;9647643", "class_list": "", "function": "Inactivating mutations in MCFD2 cause combined deficiency of factor V and factor VIII with a phenotype indistinguishable from that caused by mutations in LMAN1, [RefSeq, PubMed]; LMAN1-MCFD2 complex is a cargo receptor for the ER-Golgi transport of alpha1-antitrypsin., [RefSeq, PubMed]; Mutations in (LMAN1) and (MCFD2), have been found to be responsible for the dual deficiency of FV and FVIII., [RefSeq, PubMed]; The MCFD2-LMAN1 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteins. Plays a role in the secretion of coagulation factors., [UniProtKB, PubMed]; These results provide an explanation for the previously observed calcium dependence of the MCFD2-ERGIC-53 interaction., [RefSeq, PubMed]; This gene encodes a soluble luminal protein with two calmodulin-like EF-hand motifs at its C-terminus. This protein forms a complex with LMAN1 (lectin mannose binding protein 1; also known as ERGIC-53) that facilitates the transport of coagulation factors V (FV) and VIII (FVIII) from the endoplasmic reticulum to the Golgi apparatus via an endoplasmic reticulum Golgi intermediate compartment (ERGIC). Mutations in this gene cause combined deficiency of FV and FVIII (F5F8D); a rare autosomal recessive bleeding disorder characterized by mild to moderate bleeding and coordinate reduction in plasma FV and FVIII levels. This protein has also been shown to maintain stem cell potential in adult central nervous system and is a marker for testicular germ cell tumors. The 3' UTR of this gene contains a transposon-like human repeat element named 'THE 1'. A processed RNA pseudogene of this gene is on chromosome 6p22.1. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 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": 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": 2, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 2, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A8K7W2;D6W5A9;E9PD95;Q53SS3;Q68D61;Q8N3M5", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005789 endoplasmic reticulum membrane;GO:0012507 ER to Golgi transport vesicle membrane;GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane", "go_biological_process": "GO:0015031 protein transport;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 14.9, "record_id": "Q8NI22-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VZM2-1", "uniprot_id": "RRAGB_HUMAN", "mass": 43250.0, "length": 374, "protein_name": "Ras-related GTP-binding protein B", "gene_name": "RRAGB", "organism": "Human", "refseq_name": "ras-related GTP-binding protein B short isoform", "refseq_ac": "NP_006055", "gene_names_uniprotkb": "RRAGB", "gene_names_refseq": "RAGB; RRAGB; bA465E19.1", "protein_names_uniprotkb": "Ras-related GTP-binding protein B; 3.6.5.-; Rag B; RagB", "protein_names_refseq": "GTP-binding protein ragB; rag B; ras-related GTP-binding protein B short isoform; ras-related GTP-binding protein B", "tax_id": 9606, "disease": "ragopathy (Disease Ontology:DOID:0061140)", "pathway": " (hsa:10325); (R-HSA-1632852); (R-HSA-165159); (R-HSA-166208); (R-HSA-380972); (R-HSA-5628897); (R-HSA-8943724); (R-HSA-9639288)", "pathway_count": 8, "publication_count": 212, "publication_id_list": "10329961;10654941;10716435;10745013;10980602;11018120;11029283;11034341;11073942;11096062;11237011;11340051;11378386;11486029;11545734;11781575;11825910;11959846;12150926;12151408;12161445;12203114;12438239;12453409;12524439;12714747;12742462;12805220;12869586;12906785;13298683;13538944;14511394;14517248;14614828;14651849;14985505;15105503;15187094;15223;15314020;15579580;15589136;15755954;15809305;15854902;15878852;16098514;16140933;16413492;16418168;16636147;16676006;16702404;16728594;16760263;16839880;16943194;16963840;1715244;17277771;17298220;17386266;17470430;17486094;17510057;17517883;17540029;17618624;17873065;17974977;18172008;18198340;18321988;18344994;18372248;18391013;18439900;18487508;18497260;18604198;18692468;19113821;19211835;19322194;19439913;19440552;19487573;19590496;19822145;19855179;19884659;19898463;20059746;20080666;20182617;20233713;20351271;20378837;20381137;20516213;20713597;20921139;21177865;21205641;21258367;21289308;21383122;21460621;21602892;21750704;21819378;21958598;22053050;22128185;22170151;22363791;22575674;22682742;22980980;23202584;23287862;23685627;23723238;23727157;23775793;23884233;24066844;24081491;24095279;24366874;24383451;24714562;24715725;24718924;24747438;24954904;25259925;25263562;25457612;25484072;25561175;25567906;25568151;25579166;25728608;25819761;25961827;25963655;26449471;26586190;26652033;26811146;26910647;26972053;27308486;27487210;27648300;27846572;27862975;27920218;28066558;28199306;28199315;29053970;29056322;29123071;29236692;29393594;29493099;29557506;29632046;29786170;30061680;30181260;30315122;30651352;30779550;30833945;31154438;31222486;31844290;31848261;31937595;31998317;32161166;32350084;32357974;32387766;32488085;33968037;34078123;34320917;34482023;35058442;35739524;36215666;36284347;36581221;37938771;38253038;5666113;7499430;7628435;7979252;7989588;8119488;8549768;8779952;9394008;9721431;9926927", "class_list": "", "function": "CircEXOC6B interacting with RRAGB, an mTORC1 activator, inhibits the progression of colorectal cancer by antagonizing the HIF1A-RRAGB-mTORC1 positive feedback loop. Publication Status: Online-Only, [RefSeq, PubMed]; Elevated Ras related GTP binding B (RRAGB) expression predicts poor overall survival and constructs a prognostic nomogram for colon adenocarcinoma., [RefSeq, PubMed]; Guanine nucleotide-binding protein that plays a crucial role in the cellular response to amino acid availability through regulation of the mTORC1 signaling cascade., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Rag GTPases suppress PRL-3 degradation and predict poor clinical diagnosis of cancer patients with low PRL-3 mRNA expression., [RefSeq, PubMed]; Ras-homologous GTPases constitute a large family of signal transducers that alternate between an activated, GTP-binding state and an inactivated, GDP-binding state. These proteins represent cellular switches that are operated by GTP-exchange factors and factors that stimulate their intrinsic GTPase activity. All GTPases of the Ras superfamily have in common the presence of six conserved motifs involved in GTP/GDP binding, three of which are phosphate-/magnesium-binding sites (PM1-PM3) and three of which are guanine nucleotide-binding sites (G1-G3). Transcript variants encoding distinct 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": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 5, "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": "A8K042;Q15348;Q8N3T0", "ec_number_list": "3.6.5.-;3.6.5.2;3.6.5.3;3.6.5.5;3.6.1.5;2.7.11.1;3.6.1.-;7.1.2.2;2.7.10.2;2.7.11.31;1.11.1.-;3.6.5.4;5.2.1.8;2.7.11.26;2.1.1.-;3.6.-.-;2.3.2.27;3.6.1.15;3.1.26.n2;3.6.4.13;5.6.2.5;3.6.1.6;3.6.1.42", "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0051020 GTPase binding;GO:0032561 guanyl ribonucleotide binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005764 lysosome;GO:0005765 lysosomal membrane", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling;GO:0010507 negative regulation of autophagy;GO:0032008 positive regulation of TOR signaling;GO:0008104 intracellular protein localization;GO:0009267 cellular response to starvation", "synthesized_glycan_count": 0, "hit_score": 21.5, "record_id": "Q5VZM2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BWJ2-1", "uniprot_id": "RHAS1_HUMAN", "mass": 6658.0, "length": 59, "protein_name": "Putative uncharacterized protein encoded by RHPN1-AS1", "gene_name": "RHPN1-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "RHPN1-AS1; C8orf51", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by RHPN1-AS1; RHPN1 antisense RNA 1; RHPN1 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": "Q9BWJ2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A8MUM7-1", "uniprot_id": "LEG16_HUMAN", "mass": 16600.0, "length": 142, "protein_name": "Galectin-16", "gene_name": "LGALS16", "organism": "Human", "refseq_name": "galectin-16", "refseq_ac": "NP_001177370", "gene_names_uniprotkb": "LGALS16", "gene_names_refseq": "LGALS16", "protein_names_uniprotkb": "Galectin-16", "protein_names_refseq": "beta-galactoside-binding lectin; galectin-16; lectin, galactoside-binding, soluble, 16", "tax_id": 9606, "disease": "", "pathway": " (hsa:148003)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;19497882;29557506;33011338;34944551;38212900", "class_list": "glycogene", "function": "Binds lactose with high affinity. Strong inducer of T-cell apoptosis., [UniProtKB, PubMed]; Expression, Regulation, and Functions of the Galectin-16 Gene in Human Cells and Tissues. Publication Status: Online-Only, [RefSeq, PubMed]; Human galectin-16 has a pseudo ligand binding site and plays a role in regulating c-Rel-mediated lymphocyte activity., [RefSeq, PubMed]; Insights into cAMP-dependent molecular mechanisms regulating expression and function of LGALS16 gene in choriocarcinoma JEG-3 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": 0, "reported_glycation": 0, "reported_snv": 189, "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": "C5HZ26", "ec_number_list": "", "go_molecular_function": "GO:0030246 carbohydrate binding;GO:0030395 lactose binding", "go_cellular_component": "", "go_biological_process": "GO:0006915 apoptotic process;GO:0070234 positive regulation of T cell apoptotic process", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "A8MUM7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N8L2-1", "uniprot_id": "ZN491_HUMAN", "mass": 50950.0, "length": 437, "protein_name": "Zinc finger protein 491", "gene_name": "ZNF491", "organism": "Human", "refseq_name": "zinc finger protein 491", "refseq_ac": "NP_689569", "gene_names_uniprotkb": "ZNF491", "gene_names_refseq": "ZNF491", "protein_names_uniprotkb": "Zinc finger protein 491", "protein_names_refseq": "zinc finger protein 491", "tax_id": 9606, "disease": "", "pathway": " (hsa:126069)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;24715725;29393594;30484775;31844290;35051231;36241641", "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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "Q3MJ35;Q8NAT8", "ec_number_list": "", "go_molecular_function": "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:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8N8L2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P11047-1", "uniprot_id": "LAMC1_HUMAN", "mass": 177603.0, "length": 1609, "protein_name": "Laminin subunit gamma-1", "gene_name": "LAMC1", "organism": "Human", "refseq_name": "laminin subunit gamma-1 precursor", "refseq_ac": "NP_002284", "gene_names_uniprotkb": "LAMC1; LAMB2", "gene_names_refseq": "LAMB2; LAMC1", "protein_names_uniprotkb": "Laminin subunit gamma-1; Laminin B2 chain; Laminin-1 subunit gamma; Laminin-10 subunit gamma; Laminin-11 subunit gamma; Laminin-2 subunit gamma; Laminin-3 subunit gamma; Laminin-4 subunit gamma; Laminin-6 subunit gamma; Laminin-7 subunit gamma; Laminin-8 subunit gamma; Laminin-9 subunit gamma; S-LAM gamma; S-laminin subunit gamma", "protein_names_refseq": "S-LAM gamma; S-laminin subunit gamma; laminin B2 chain; laminin subunit gamma-1 precursor; laminin, gamma 1 (formerly LAMB2); laminin-10 subunit gamma; laminin-11 subunit gamma; laminin-2 subunit gamma; laminin-3 subunit gamma; laminin-4 subunit gamma; laminin-6 subunit gamma; laminin-7 subunit gamma; laminin-8 subunit gamma; laminin-9 subunit gamma", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041)", "pathway": " (hsa:3915); (R-HSA-1474228); (R-HSA-3000157); (R-HSA-3000171); (R-HSA-3000178); (R-HSA-373760); (R-HSA-381426); (R-HSA-8874081); (R-HSA-8957275); (R-HSA-9619665); (R-HSA-9638630); (R-HSA-9913351); (R-HSA-9925563)", "pathway_count": 13, "publication_count": 407, "publication_id_list": "37268159;10.1007/s00018-021-03863-1;10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10022829;10026136;10077652;10189375;10203854;10218588;10220111;10229672;10339611;10386589;10400691;10441321;10512690;10521801;10545507;10614670;10673326;10681634;10706100;10727776;10757804;10809722;10810289;10856243;10893187;10898936;10912521;10932245;10942431;10951195;10986281;10990447;11054877;11084047;11115854;11133365;11157804;11158056;11237011;11250653;11259413;11264294;11316783;11352924;11356866;11375993;11394999;11430795;11430802;11495720;11522292;11606061;11734543;11739083;11739641;11751371;11782409;11788658;11847221;11872628;11964076;12056842;12145339;12189167;12198163;12225811;12237301;12241545;12379487;12466191;12727852;12754519;12782656;12799134;12810533;12843408;12904166;1319059;1370451;1376317;1383255;14512514;14522948;14664827;14715956;14973287;14978216;15075323;15126567;15150276;15175026;15189448;15234972;15296743;15308688;15356632;1544908;15469690;15485880;15525596;15591058;15610069;15642270;15695336;15836632;15907797;15958533;16000162;16133547;16136673;16293224;16311519;16319321;16335952;16373334;16413178;16493581;1649600;16524571;16581764;16631740;16782899;16806867;16825321;16923174;16959974;1698775;1704008;17047378;1707285;17249697;17312271;17325040;17332331;17354228;17574028;17588949;17608959;17699610;17905726;17959798;17985932;1806043;18434311;18634568;18658137;18764929;18803322;19010778;19143832;19156870;19159218;19321787;19346169;19571574;19657146;19714641;19745155;1975954;1985895;19922439;19946898;20044576;20068231;20142769;20149798;20213556;2059554;20625412;20802513;20832498;21030783;21044070;21152083;21297635;21326363;21406692;21411665;21423190;21423191;21441952;21613327;21642437;21653862;21670566;21784848;21789315;21864727;22053691;22134916;22159078;22159414;22180461;22223806;22333914;22492709;22493504;22645359;22764250;22814607;22869377;22905912;23035980;23090970;23481700;23584533;2364322;23695165;23747866;23845380;23874858;2412224;24190977;24191038;2420006;24227709;2430969;24480479;24646194;24675079;2476804;2479552;25576301;25645385;25813380;25892735;25974668;26091039;26375851;26423937;26441514;26992070;27220739;27288457;27397612;27600516;27726376;27846572;27859941;27893789;27920218;28228285;28397838;28514659;28649982;28657654;28832583;28834231;28852375;28904123;29242379;29391424;29508533;29557506;29671580;29741879;29748249;30315122;30410026;30429286;30459171;30484775;30779550;31154438;31217245;31222486;31530632;31844290;31848261;32157095;32161166;3234037;32350084;32387766;32502341;3282674;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;3360804;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34089345;34171305;34185709;34357683;34725712;34846842;35051231;35289036;35318648;35508657;35580925;36010968;36215666;36241641;36417404;36780058;37074911;37340703;37389756;37471146;37938771;38665916;38678297;39179716;39531497;3997977;6193777;6439184;7075587;7499434;7509446;7519608;7523391;7525263;7525634;7525824;7527058;7527330;7527495;7538844;7542669;7543116;7547873;7547961;7559467;7588299;7592992;7683646;7685013;7689487;7693733;7844150;7852349;7925941;7935840;8002934;8043271;8054685;8138712;8226919;8268918;8349731;8440685;8576247;8607994;8619637;8626565;8627307;8647822;8662541;8781553;8798547;8798654;8817670;8842374;8845841;8894645;8943283;8964575;9065415;9115292;9148753;9214383;9245798;9252349;9294172;9341124;9346959;9405466;9412493;9417118;9418958;9461298;9482253;9497324;9645947;9652404;9659899;9659900;9685393;9705348;9709957;9733769;9748295;9786878;9852107;9858769;9864373;9922210;9949188", "class_list": "", "function": "Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. As a subunit of laminin-1 (also known as laminin-111 or EHS laminin), it is involved in the stimulation of agrin-induced receptor clustering through a MuSK-independent pathway., [UniProtKB, UniProtKB]; Circ_0124208 Promotes the Progression of Hepatocellular Carcinoma by Regulating the miR-338-3p/LAMC1 Axis., [RefSeq, PubMed]; HIF-1alpha-mediated LAMC1 overexpression is an unfavorable predictor of prognosis for glioma patients: evidence from pan-cancer analysis and validation experiments. Publication Status: Online-Only, [RefSeq, PubMed]; Lamc1 promotes osteogenic differentiation and inhibits adipogenic differentiation of bone marrow-derived mesenchymal stem cells. Publication Status: Online-Only, [RefSeq, PubMed]; Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]., [RefSeq]; NUDT21 alters glioma migration through differential alternative polyadenylation of LAMC1., [RefSeq, PubMed]; Whole exome sequencing identifies KIF26B, LIFR and LAMC1 mutations in familial vesicoureteral reflux. 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": 13, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 12, "reported_o_glycosites_with_glycan": 10, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 13, "total_reported_o_glycosites": 10, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 13, "total_o_glycosites": 10, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 86, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 201, "disease_count": 1, "glyco_site_count": 24, "binding_glycan_count": 0, "secondary_ac_list": "Q5VYE7", "ec_number_list": "", "go_molecular_function": "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:0070062 extracellular exosome", "go_biological_process": "GO:1904395 positive regulation of skeletal muscle acetylcholine-gated channel clustering;GO:0007155 cell adhesion;GO:0007165 signal transduction;GO:0016477 cell migration;GO:0022617 extracellular matrix disassembly", "synthesized_glycan_count": 0, "hit_score": 63.2, "record_id": "P11047-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O94772-1", "uniprot_id": "LY6H_HUMAN", "mass": 14669.0, "length": 140, "protein_name": "Lymphocyte antigen 6H", "gene_name": "LY6H", "organism": "Human", "refseq_name": "lymphocyte antigen 6H isoform b precursor", "refseq_ac": "NP_001123950", "gene_names_uniprotkb": "LY6H", "gene_names_refseq": "LY6H; NMLY6", "protein_names_uniprotkb": "Lymphocyte antigen 6H; Ly-6H", "protein_names_refseq": "ly-6H; lymphocyte antigen 6 complex, locus H; lymphocyte antigen 6H isoform b precursor; lymphocyte antigen 6H", "tax_id": 9606, "disease": "", "pathway": " (hsa:4062); (R-HSA-163125)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "11072085;20237496;2443973;29557506;3422494;34446574;9799603", "class_list": "", "function": "Believed to act as a modulator of nicotinic acetylcholine receptors (nAChRs) activity. In vitro inhibits alpha-3:beta-4-containing nAChRs maximum response. May play a role in the intracellular trafficking of alpha-7-containing nAChRs and may inhibit their expression at the cell surface. Seems to inhibit alpha-7/CHRNA7 signaling in hippocampal neurons., [UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Unbalanced Regulation of alpha7 nAChRs by Ly6h and NACHO Contributes to Neurotoxicity in Alzheimer's Disease., [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": 0, "reported_glycation": 0, "reported_snv": 9, "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": "B2RAD2;J3KQI0;Q6IAX0", "ec_number_list": "", "go_molecular_function": "GO:0033130 acetylcholine receptor binding;GO:0030550 acetylcholine receptor inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0045202 synapse;GO:0098552 side of membrane", "go_biological_process": "GO:0007399 nervous system development;GO:0095500 acetylcholine receptor signaling pathway;GO:0009887 animal organ morphogenesis", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "O94772-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95407-1", "uniprot_id": "TNF6B_HUMAN", "mass": 32680.0, "length": 300, "protein_name": "Tumor necrosis factor receptor superfamily member 6B", "gene_name": "TNFRSF6B", "organism": "Human", "refseq_name": "tumor necrosis factor receptor superfamily member 6B precursor", "refseq_ac": "NP_003814", "gene_names_uniprotkb": "TNFRSF6B; DCR3; PRO212; TR6", "gene_names_refseq": "DCR3; DJ583P15.1.1; M68E; M68; TNFRSF6B; TR6", "protein_names_uniprotkb": "Tumor necrosis factor receptor superfamily member 6B; DcR3; Decoy receptor 3; Decoy receptor for Fas ligand; M68", "protein_names_refseq": "decoy receptor for Fas ligand; tumor necrosis factor receptor superfamily member 6B precursor; tumor necrosis factor receptor superfamily member 6b; tumor necrosis factor receptor superfamily, member 6b, decoy", "tax_id": 9606, "disease": "", "pathway": " (hsa:8771); (R-HSA-5669034)", "pathway_count": 2, "publication_count": 49, "publication_id_list": "10074428;10318773;10359578;10398604;10484778;10597252;10615125;10655513;11390428;11571266;11882293;11911831;11994433;12189164;12949498;12975309;14656435;15356117;15470070;16501042;1655907;17632511;18571443;18606301;20032458;20222921;20307208;20510730;20979233;21300286;22197273;22664871;22801960;24070496;25087510;27806260;30459171;31332995;31844290;35051231;35478210;36241641;37574317;38458034;7913952;8120384;8871664;9872321;9878548", "class_list": "", "function": "As a soluble receptor.Fc fusion protein, DcR3 modulates dendritic cell differentiation and maturation from CD14+ monocytes by up-regulation of CD86/B7.2 and down-regulation of CD40, CD54/ICAM-1, CD80/B7.1, CD1a, and HLA-DR., [RefSeq, PubMed]; Decoy receptor 3 is involved in epidermal keratinocyte commitment to terminal differentiation via EGFR and PKC activation., [RefSeq, PubMed]; HIF-1alpha regulates DcR3 to promote the development of endometriosis., [RefSeq, PubMed]; Significantly higher levels of TL1A and its decoy receptor DcR3 in RA patients than in controls; TL1A is significantly related to the disease activity and enhances IL-17 production, [RefSeq, PubMed]; Soluble decoy receptor that binds and neutralizes the TNF-family ligands TNFSF14/LIGHT, TNFSF15, and FASLG, preventing them from interacting with their cognate receptors and thereby blocking apoptosis and other immune-signaling pathway., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene belongs to the tumor necrosis factor receptor superfamily. The encoded protein is postulated to play a regulatory role in suppressing FasL- and LIGHT-mediated cell death. It acts as a decoy receptor that competes with death receptors for ligand binding. Over-expression of this gene has been noted in gastrointestinal tract tumors. Read-through transcription into this gene from the neighboring upstream gene, which encodes regulator of telomere elongation helicase 1 (RTEL1), generates a non-coding transcript. [provided by RefSeq, Feb 2011]., [RefSeq]; [miR-148b inhibits M2 polarization of LPS-stimulated macrophages by targeting DcR3]., [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": 13, "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": "", "ec_number_list": "", "go_molecular_function": "GO:0140319 receptor decoy activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0016020 membrane", "go_biological_process": "GO:0043066 negative regulation of apoptotic process;GO:0006915 apoptotic process;GO:0050728 negative regulation of inflammatory response", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "O95407-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43493-2", "uniprot_id": "TGON2_HUMAN", "mass": 45880.0, "length": 437, "protein_name": "Trans-Golgi network integral membrane protein 2", "gene_name": "TGOLN2", "organism": "Human", "refseq_name": "trans-Golgi network integral membrane protein 2 isoform 2 precursor", "refseq_ac": "NP_001193769", "gene_names_uniprotkb": "TGOLN2; TGN46; TGN51", "gene_names_refseq": "TGN38; TGN46; TGN48; TGN51; TGOLN2; TTGN2; hTGN46; hTGN48; hTGN51", "protein_names_uniprotkb": "Trans-Golgi network integral membrane protein 2; TGN38 homolog; Trans-Golgi network glycoprotein 46; Trans-Golgi network glycoprotein 48; Trans-Golgi network glycoprotein 51; Trans-Golgi network protein 2; hTGN46; hTGN48; hTGN51", "protein_names_refseq": "TGN38 homolog; trans-Golgi network glycoprotein 46; trans-Golgi network glycoprotein 48; trans-Golgi network glycoprotein 51; trans-Golgi network integral membrane protein 2 isoform 2 precursor; trans-Golgi network integral membrane protein 2; trans-Golgi network protein TGN51", "tax_id": 9606, "disease": "", "pathway": " (hsa:10618); (R-HSA-381426); (R-HSA-432722); (R-HSA-6811440); (R-HSA-8856825); (R-HSA-8856828); (R-HSA-8957275)", "pathway_count": 7, "publication_count": 397, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10026136;10077652;10097102;10209123;10218588;10394364;10436022;10445031;10512690;10535736;10542231;10559856;10559861;10559924;10559959;10567358;10613896;10614670;10625686;10637310;10681634;10766823;10769163;10810289;10865125;10898936;10912521;10951195;10983987;10990447;10990452;11071885;11076969;11082044;11158056;11231140;11239472;11247302;11250653;11264294;11303027;11316783;11346801;11359012;11454741;11470803;11516654;11517213;11522292;11532990;11577110;11588219;11590181;11604418;11606061;11689439;11694590;11739083;11751371;11788658;11827983;11839770;11877457;11877461;11889126;11919637;11927540;11988742;11994746;12057195;12070132;12086608;12213833;12221107;12234931;12241545;12377769;12379487;12429842;12447393;12451172;12464600;12466191;12620188;12620189;12717448;12810533;12847086;12904166;12944396;12952949;12958364;1317852;1370451;1383255;14555962;14580338;14581451;14617351;14622578;14622579;14662753;14718928;14726597;15029241;15037235;15077113;15077114;15102850;15126567;15128430;15134832;15252009;15260957;15269279;15308688;15318165;15339664;1535555;15469690;15473838;15483056;15485880;15502812;15502813;15525596;15642270;15649145;15654769;15671180;15703209;15728179;15758030;15802264;15870108;15878329;15895077;15916959;16042553;16103228;16129887;16155256;16159959;16215232;16326391;16410077;16459302;16460808;16516836;16571679;16707488;16723738;16798879;16880396;16885419;16903783;16912714;16936697;17018281;17035995;17047378;17081983;17116749;17158794;17249697;17267500;17287340;17312271;17360967;17451557;17456551;17488291;17494869;17512409;17522231;17540576;17562788;17609109;17681954;17684057;17698061;17713526;17762867;17765681;17978091;17985932;18032517;18093523;18166656;18195106;18199683;18243103;18256213;18318008;18367545;18388313;18452278;1847920;18578522;18664496;18669648;18702456;18775314;18790740;18819912;18946081;18981233;19092055;19140243;19164740;19287005;19296720;19458185;19490898;19536138;19575674;19603039;19620288;19664995;1968060;19696796;19696798;19713939;19732400;19776351;19809571;19853559;20033059;20059951;20068231;20166139;20211604;20231386;20351096;20428113;20448150;20685960;20826345;20946875;21102408;2115402;21183348;21187331;21278753;21316588;21406692;21421921;21436057;21445324;21482805;21499258;21613550;21689688;21779028;21807881;21841790;21883765;21927000;21927001;21962517;21995445;22099461;22118466;22233676;22335553;22354037;22357968;22484487;22505844;2257624;22581368;22717455;22815487;22863004;22942912;23091056;23186163;23297414;23437303;23536704;23584533;23823722;23861397;23891661;24130457;24186068;24190977;24275569;24384571;24581490;24680432;24746795;2476804;24789820;24794632;2479552;24966051;25107275;25303366;25341920;25343031;25813380;26042225;26091039;26375851;26403691;26829388;27862975;2890644;29242379;29314611;29632711;29786170;30315122;30459171;31848261;32125861;32157095;32350084;32983136;33298915;33717175;33936100;34019948;34171305;3417785;34244781;34357683;34433824;34846842;35051231;35251023;35513511;35561310;35580925;35705054;36215666;36284347;37217939;38466628;38670394;40307207;6146630;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7569928;7588299;7683646;7689487;7822302;7877694;7909812;8221884;8374173;8440258;8524399;8552632;8553074;8620540;8636227;8670264;8670882;8781553;8817670;8837779;8894645;8907712;8964575;9050864;9092476;9100026;9169477;9177194;9230071;9303539;9422759;9427626;9428629;9497324;9590177;9635431;9709957;9723620;9733769;9736607;9786878;9812899;9922210", "class_list": "", "function": "Golgi-58K can re-localize to late endosomes upon cellular uptake of PS-ASOs and facilitates endosomal release of ASOs., [RefSeq, PubMed]; May be involved in regulating membrane traffic to and from trans-Golgi network., [UniProtKB]; Sorting of secretory proteins at the trans-Golgi network by human TGN46. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a type I integral membrane protein that is localized to the trans-Golgi network, a major sorting station for secretory and membrane proteins. The encoded protein cycles between early endosomes and the trans-Golgi network, and may play a role in exocytic vesicle formation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]; Whole-exome sequencing reveals an association of rs112065068 in TGOLN2 gene with distant metastasis of non-small cell lung cancer., [RefSeq, PubMed]", "predicted_glycosites": 7, "predicted_n_glycosites": 7, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 55, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 55, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 55, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 14, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 75, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 11, "disease_count": 0, "glyco_site_count": 64, "binding_glycan_count": 0, "secondary_ac_list": "B2R686;B8ZZ88;D6W5K3;F8W8W7;F8WBK2;J3KQ45;O15282;O43492;O43499;O43500;O43501;Q53G68;Q53GV2;Q6MZV1;Q6ZTM7;Q8N6T8;Q92760;Q96QL2", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005768 endosome;GO:0005788 endoplasmic reticulum lumen;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0030669 clathrin-coated endocytic vesicle membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 46.6, "record_id": "O43493-2", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BWD1-1", "uniprot_id": "THIC_HUMAN", "mass": 41351.0, "length": 397, "protein_name": "Acetyl-CoA acetyltransferase, cytosolic", "gene_name": "ACAT2", "organism": "Human", "refseq_name": "acetyl-CoA acetyltransferase, cytosolic isoform 2", "refseq_ac": "NP_001290182", "gene_names_uniprotkb": "ACAT2; ACTL", "gene_names_refseq": "ACAT2", "protein_names_uniprotkb": "Acetyl-CoA acetyltransferase, cytosolic; 2.3.1.9; Acetyl-CoA transferase-like protein; Cytosolic acetoacetyl-CoA thiolase", "protein_names_refseq": "acetoacetyl Coenzyme A thiolase; acetyl-CoA acetyltransferase, cytosolic isoform 2; acetyl-CoA transferase-like protein; cytosolic acetoacetyl-CoA thiolase", "tax_id": 9606, "disease": "coronary artery disease (Disease Ontology:DOID:3393)", "pathway": " (hsa:39); (R-HSA-9969896)", "pathway_count": 2, "publication_count": 91, "publication_id_list": "10026212;10620343;10666321;10896663;11160603;1377680;14557872;14729858;14730012;14766201;15733928;16464866;16519518;16684881;18327899;18937434;19608861;20394422;21420384;22223895;22645359;23481700;24714562;25418920;25502872;26024233;26375851;26728094;26992070;27688151;27846572;27920218;28218747;28228285;28467828;28510447;28514659;28832583;28834231;28904123;29242379;29331515;29351928;29437277;29493099;29557506;29789417;30315122;30410026;30573663;31020640;31217245;31530632;31844290;32157095;32350084;32357974;32387766;32502341;32897882;33246356;33298915;33592498;33633747;33717175;33936100;33968037;34019948;34036483;34171305;34229054;34357683;34433824;34509645;35051231;35138101;35154160;35251023;36010968;36580660;38665916;39894887;40596516;40914422;5918048;7911016;7913309;8593458;8806705;9380443;9741684", "class_list": "", "function": "Circ_RPL23A acts as a miR-1233 sponge to suppress the progression of clear cell renal cell carcinoma by promoting ACAT2., [RefSeq, PubMed]; Involved in the biosynthetic pathway of cholesterol., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Results demonstrate that the low-level expression of human ACAT2 gene with specific CpG-hypomethylated promoter is regulated by the C/EBP transcription factors in monocytic cells, and imply that the lowly expressed ACAT2 catalyzes the synthesis of certain CE/SE that are assembled into lipoproteins for the secretion, [RefSeq, PubMed]; The product of this gene is an enzyme involved in lipid metabolism, and it encodes cytosolic acetoacetyl-CoA thiolase. This gene shows complementary overlapping with the 3-prime region of the TCP1 gene in both mouse and human. These genes are encoded on opposite strands of DNA, as well as in opposite transcriptional orientation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "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": "B7Z233;E1P5B1;Q16146;Q5TCL7;Q8TDM4", "ec_number_list": "2.3.1.16;2.3.1.9;2.3.1.155;3.1.2.-;3.1.2.2;3.1.2.1", "go_molecular_function": "GO:0003985 acetyl-CoA C-acetyltransferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0006631 fatty acid metabolic process;GO:0010142 farnesyl diphosphate biosynthetic process, mevalonate pathway", "synthesized_glycan_count": 0, "hit_score": 9.4, "record_id": "Q9BWD1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HC23-1", "uniprot_id": "PROK2_HUMAN", "mass": 14314.0, "length": 129, "protein_name": "Prokineticin-2", "gene_name": "PROK2", "organism": "Human", "refseq_name": "prokineticin-2 isoform a precursor", "refseq_ac": "NP_001119600", "gene_names_uniprotkb": "PROK2; BV8", "gene_names_refseq": "BV8; HH4; KAL4; MIT1; PK2; PROK2", "protein_names_uniprotkb": "Prokineticin-2; PK2; Protein Bv8 homolog", "protein_names_refseq": "prokineticin-2 isoform a precursor; protein Bv8 homolog", "tax_id": 9606, "disease": "hypogonadotropic hypogonadism 4 with or without anosmia (Disease Ontology:DOID:0090077)", "pathway": " (hsa:60675); (R-HSA-375276); (R-HSA-416476)", "pathway_count": 3, "publication_count": 131, "publication_id_list": "10079109;10100623;10191087;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10567430;10580115;10604470;10727532;10854085;10861009;10899166;11015615;11259612;11322507;11385580;11457843;11562423;11683476;11742120;11753430;11773063;12024206;12120503;12427552;12540846;12719537;1280419;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;15139756;15340161;15539556;1567413;15772293;15947423;15951850;16182515;16268778;16339447;1655761;16754659;16923326;17054399;1710450;1710578;1719979;1722333;18127230;18434541;1847994;18515384;18559922;18577758;18936096;1905813;23446738;23643382;23690594;24906252;25077900;2649896;27496565;2841328;3086311;3202875;3366244;3525564;36218142;36263704;36539034;36549578;37090721;3856870;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7797512;7905839;7937899;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8440682;8463333;8503909;8615752;8664309;8666380;8702752;873923;8823230;9171878;9305846;9521323;9530155;9593744;9607765;9685625;9722565;9770463;9792798;9832121;9851594", "class_list": "", "function": "Activation of amygdala prokineticin receptor 2 neurons drives the anorexigenic activity of the neuropeptide PK2., [RefSeq, PubMed]; Bv8 mediates myeloid cell migration and enhances malignancy of colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; May function as an output molecule from the suprachiasmatic nucleus (SCN) that transmits behavioral circadian rhythm. May also function locally within the SCN to synchronize output. Potently contracts gastrointestinal (GI) smooth muscle., [UniProtKB]; Olfactory Neuron Prokineticin-2 as a Potential Target in Parkinson's Disease., [RefSeq, 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]; Prokineticin 2 transmits the behavioural circadian rhythm of the suprachiasmatic nucleus., [RefSeq, PubMed]; Substance P and Prokineticin-2 are overexpressed in olfactory neurons and play differential roles in persons with persistent post-COVID-19 olfactory dysfunction., [RefSeq, PubMed]; This gene encodes a protein expressed in the suprachiasmatic nucleus (SCN) circadian clock that may function as the output component of the circadian clock. The secreted form of the encoded protein may also serve as a chemoattractant for neuronal precursor cells in the olfactory bulb. Proteins from other vertebrates which are similar to this gene product were isolated based on homology to snake venom and secretions from frog skin, and have been shown to have diverse functions. Mutations in this gene are associated with Kallmann syndrome 4. 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "Q53Z79;Q6ISR0", "ec_number_list": "", "go_molecular_function": "GO:0001664 G protein-coupled receptor binding", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0001525 angiogenesis;GO:0006935 chemotaxis;GO:0006954 inflammatory response;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007204 positive regulation of cytosolic calcium ion concentration", "synthesized_glycan_count": 0, "hit_score": 13.2, "record_id": "Q9HC23-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q53H54-1", "uniprot_id": "TYW2_HUMAN", "mass": 50236.0, "length": 448, "protein_name": "tRNA wybutosine-synthesizing protein 2 homolog", "gene_name": "TYW2", "organism": "Human", "refseq_name": "tRNA wybutosine-synthesizing protein 2 homolog", "refseq_ac": "NP_060426", "gene_names_uniprotkb": "TYW2; TRM12; TRMT12", "gene_names_refseq": "TRM12; TRMT12; TYW2", "protein_names_uniprotkb": "tRNA wybutosine-synthesizing protein 2 homolog; 2.5.1.114; tRNA(Phe) (4-demethylwyosine(37)-C(7)) aminocarboxypropyltransferase; tRNA-yW-synthesizing protein 2", "protein_names_refseq": "alpha-amino-alpha-carboxypropyl transferase TYW2; homolog of yeast tRNA methyltransferase; tRNA methyltranferase 12 homolog; tRNA methyltransferase 12 homolog; tRNA wybutosine-synthesizing protein 2 homolog; tRNA(Phe) (4-demethylwyosine(37)-C(7)) aminocarboxypropyltransferase; tRNA-yW-synthesizing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:55039); (R-HSA-6782861)", "pathway_count": 2, "publication_count": 50, "publication_id_list": "11237011;15248782;17440925;20739293;20972222;22761755;23481700;23887145;25576301;25645385;27600516;27846572;27920218;28228285;28832583;28834231;28904123;29242379;29351928;29493099;29508533;29557506;29632711;29786170;30315122;30379171;30429286;31844290;31848261;32157095;32161166;32265295;32357974;32488085;32502341;32778592;32897882;32938616;32983136;33298915;33592498;33633747;33912179;33981976;34087483;34171305;34405274;34509645;35051231;36010968", "class_list": "", "function": "Analysis by RT-qPCR using RNA from 30 breast tumors showed TRMT12 was overexpressed >2 fold in 87% of the tumors. TRMT12 is a homologue of a yeast gene encoding a tRNA methyltransferase involved in the posttranscriptional modification of tRNA(Phe), [RefSeq, PubMed]; Epigenetic loss of the transfer RNA-modifying enzyme TYW2 induces ribosome frameshifts in colon cancer., [RefSeq, PubMed]; S-adenosyl-L-methionine-dependent transferase that acts as a component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA. Catalyzes the transfer of the alpha-amino-alpha-carboxypropyl (acp) group from S-adenosyl-L-methionine to the C-7 position of 4-demethylwyosine (imG-14) to produce wybutosine-86., [UniProtKB, PubMed]; Wybutosine (yW) is a hypermodified guanosine at the 3-prime position adjacent to the anticodon of phenylalanine tRNA that stabilizes codon-anticodon interactions during decoding on the ribosome. TRMT12 is the human homolog of a yeast gene essential for yW synthesis (Noma and Suzuki, 2006).[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": 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": 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": "Q6PKB9;Q96F21;Q9NWK6", "ec_number_list": "2.5.1.114", "go_molecular_function": "GO:0008175 tRNA methyltransferase activity;GO:0102522 tRNA 4-demethylwyosine alpha-amino-alpha-carboxypropyltransferase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0030488 tRNA methylation;GO:0031591 wybutosine biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q53H54-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UBD3-1", "uniprot_id": "XCL2_HUMAN", "mass": 12567.0, "length": 114, "protein_name": "Cytokine SCM-1 beta", "gene_name": "XCL2", "organism": "Human", "refseq_name": "cytokine SCM-1 beta precursor", "refseq_ac": "NP_003166", "gene_names_uniprotkb": "XCL2; SCYC2", "gene_names_refseq": "SCM-1b; SCM1B; SCYC2; XCL2", "protein_names_uniprotkb": "Cytokine SCM-1 beta; C motif chemokine 2; XC chemokine ligand 2", "protein_names_refseq": "XC chemokine ligand 2; c motif chemokine 2; chemokine (C motif) ligand 2; cytokine SCM-1 beta precursor; cytokine SCM-1 beta; small inducible cytokine subfamily C, member 2", "tax_id": 9606, "disease": "anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780)", "pathway": " (hsa:6846); (R-HSA-380108); (R-HSA-416476)", "pathway_count": 3, "publication_count": 72, "publication_id_list": "10191087;10229797;10567430;10640743;10706668;10725696;10725697;10727532;10781587;10861009;11015615;11060282;11742120;11753430;12120503;12149255;12554737;12884299;15067078;15340161;15951850;16107333;16182515;16268778;16339447;16754659;16923326;1744577;1840701;18434541;18515384;18577758;1891716;18936096;1905813;20002784;2078213;2217207;2423119;24714562;2841328;2970963;30429286;3086311;3098319;3260265;36503163;36773049;37905956;7602097;7622448;7642634;7679328;7851893;7875320;7937899;8048929;8383238;8639485;8664309;8849694;9024663;9164944;9166430;9169459;9207005;9276730;9305846;9390561;9463416;9618518;9770463", "class_list": "", "function": "Chemotactic activity for lymphocytes but not for monocytes or neutrophils., [UniProtKB]; Comprehensive analysis reveals XCL2 as a cancer prognosis and immune infiltration-related biomarker., [RefSeq, PubMed]; The effect of ITLN1, XCL2 and DOT1L variants on knee osteoarthritis risk in the Han population., [RefSeq, PubMed]; Upregulated X-C motif chemokine ligand 2 (XCL2) is associated with poor prognosis and increased immune infiltration in clear cell renal cell 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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:0008009 chemokine activity;GO:0048020 CCR chemokine receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0006954 inflammatory response;GO:0007165 signal transduction;GO:0030335 positive regulation of cell migration;GO:0061844 antimicrobial humoral immune response mediated by antimicrobial peptide;GO:0070098 chemokine-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q9UBD3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99102-1", "uniprot_id": "MUC4_HUMAN", "mass": 542307.0, "length": 5412, "protein_name": "Mucin-4", "gene_name": "MUC4", "organism": "Human", "refseq_name": "mucin-4 isoform d precursor", "refseq_ac": "NP_004523", "gene_names_uniprotkb": "MUC4", "gene_names_refseq": "ASGP; HSA276359; MUC-4; MUC4", "protein_names_uniprotkb": "Mucin-4; ASGP-1; ASGP-2; ASGP; Ascites sialoglycoprotein 1; Ascites sialoglycoprotein 2; Ascites sialoglycoprotein; MUC-4; Pancreatic adenocarcinoma mucin; Testis mucin; Tracheobronchial mucin", "protein_names_refseq": "ascites sialoglycoprotein; mucin 4, tracheobronchial; mucin-4 isoform d precursor; mucin-4; pancreatic adenocarcinoma mucin; testis mucin; tracheobronchial mucin", "tax_id": 9606, "disease": "biliary tract benign neoplasm (Disease Ontology:DOID:0050625); mucositis (Disease Ontology:DOID:0080178); Coronavirus infectious disease (Disease Ontology:DOID:0080599); otitis media (Disease Ontology:DOID:10754); allergic conjunctivitis (Disease Ontology:DOID:11204); corneal neovascularization (Disease Ontology:DOID:11382); pancreatic cancer (Disease Ontology:DOID:1793); mucinous adenocarcinoma (Disease Ontology:DOID:3030); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); lung carcinoma (Disease Ontology:DOID:3905); lung adenocarcinoma (Disease Ontology:DOID:3910); common bile duct neoplasm (Disease Ontology:DOID:4608); cholangiocarcinoma (Disease Ontology:DOID:4947)", "pathway": " (hsa:4585); (R-HSA-5083625); (R-HSA-5083632); (R-HSA-5083636); (R-HSA-5621480); (R-HSA-913709); (R-HSA-977068)", "pathway_count": 7, "publication_count": 80, "publication_id_list": "10.1038/emboj.2013.79;10024507;10330415;10430883;10504389;10742600;10753916;10880978;10920259;11042166;11062056;11110698;11237011;11283017;11304796;11445551;11606584;11821425;12084055;12102554;12153560;12464682;12855678;1329093;14656219;15466199;15486459;15560372;15599692;15620693;15687324;16049287;16151858;16251947;16319059;1673336;16814944;16914178;17050534;17113861;18490740;18537974;18776906;18780401;18818202;19617566;21880719;22041900;22183981;22461326;23053572;23507963;23584533;23602766;2373995;24643043;25153226;25576301;25892735;31848261;36284347;37749036;38627316;38816411;38956298;39024979;7655172;8333853;8598452;8611500;8920913;8972730;9042338;9295285;9394011;9417100;9435216;9620877;9915862;9988682", "class_list": "", "function": "A novel fatty acid metabolism-related signature identifies MUC4 as a novel therapy target for esophageal squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Circadian disruption reduces MUC4 expression via the clock molecule BMAL1 during dry eye development., [RefSeq, PubMed]; Membrane-bound mucin, a family of highly glycosylated proteins that constitute the major component of the mucus, the slimy and viscous secretion covering epithelial surfaces (PubMed:10880978). These glycoproteins play important roles in the protection of the epithelium and are implicated in epithelial renewal and differentiation (PubMed:10880978). Regulates cellular behavior through both anti-adhesive effects on cell-cell and cell-extracellular matrix interactions and its ability to act as an intramembrane ligand for ERBB2. Plays an important role in proliferation and differentiation of epithelial cells by inducing specific phosphorylation of ERBB2. In polarized epithelial cells, segregates ERBB2 and other ERBB receptors and prevents ERBB2 from acting as a coreceptor. The interaction with ERBB2 leads to enhanced expression of CDKN1B. The formation of a MUC4-ERBB2-ERBB3-NRG1 complex leads to down-regulation of CDKN1B, resulting in repression of apoptosis and stimulation of proliferation. Its ability to promote tumor growth may be mainly due to repression of apoptosis as opposed to proliferation., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; TRPV4 activation in human corneal epithelial cells promotes membrane mucin production., [RefSeq, PubMed]; The genomic structure of the 3' region of the human MUC4 gene was determined. Our results show that it spans approximately 30.8 kb of genomic DNA and is composed of 24 exons, including one alternative exon, [RefSeq, PubMed]; The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]., [RefSeq]; [Role and clinical significance of MUC4 gene mutations in thrombotic events in patients with classic paroxysmal nocturnal hemoglobinuria]., [RefSeq, PubMed]", "predicted_glycosites": 546, "predicted_n_glycosites": 27, "predicted_o_glycosites": 519, "predicted_c_glycosites": 0, "predicted_s_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": 5, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1712, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 17, "disease_count": 13, "glyco_site_count": 550, "binding_glycan_count": 0, "secondary_ac_list": "O95938;Q9GZM2;Q9GZV6;Q9H481;Q9H482;Q9H483;Q9H484;Q9H485;Q9H486;Q9H487;Q9H4D6;Q9H4D8;Q9NPJ0;Q9NY09;Q9NY75;Q9NY76;Q9NY77;Q9NY78;Q9NY79;Q9NY80;Q9NY81", "ec_number_list": "", "go_molecular_function": "GO:0005176 ErbB-2 class receptor binding;GO:0030197 extracellular matrix constituent, lubricant activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005796 Golgi lumen;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0031012 extracellular matrix", "go_biological_process": "GO:0030277 maintenance of gastrointestinal epithelium;GO:0007160 cell-matrix adhesion", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "Q99102-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H3U5-1", "uniprot_id": "MFSD1_HUMAN", "mass": 51209.0, "length": 465, "protein_name": "Lysosomal dipeptide transporter MFSD1", "gene_name": "MFSD1", "organism": "Human", "refseq_name": "lysosomal dipeptide transporter MFSD1 isoform 3", "refseq_ac": "NP_001276335", "gene_names_uniprotkb": "MFSD1; SMAP4; UG0581B09", "gene_names_refseq": "MFSD1; Minerva; SLC72A1; SMAP4", "protein_names_uniprotkb": "Lysosomal dipeptide transporter MFSD1; Major facilitator superfamily domain-containing protein 1; SMAP-4; Smooth muscle cell-associated protein 4", "protein_names_refseq": "lysosomal dipeptide transporter MFSD1 isoform 3; lysosomal dipeptide transporter MFSD1; major facilitator superfamily domain-containing protein 1; smooth muscle cell-associated protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:64747)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "11237011;21752829;23481700;24715725;25645385;25892735;26154972;26992070;27600516;27726376;27846572;28834231;28904123;29242379;29393594;29557506;29632046;29769354;30429286;30910009;31092671;31154438;31530632;31844290;31848261;32350084;32357974;32387766;33043033;33141586;33392160;33592498;34357683;36215666;37217939;38507452", "class_list": "", "function": "Lysosomal dipeptide uniporter that selectively exports lysine, arginine or histidine-containing dipeptides with a net positive charge from the lysosome lumen into the cytosol (PubMed:38507452). Could play a role in a specific type of protein O-glycosylation indirectly regulating macrophages migration and tissue invasion (PubMed:30910009). Also essential for liver homeostasis (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; MFSD1 protein localizes in lysosomes in HeLa cells, [RefSeq, PubMed]; Orphan lysosomal solute carrier MFSD1 facilitates highly selective dipeptide transport., [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": "B4DGJ8;B4DMR8;B4DU49;B4DWU1;C9JS94;J3KQL7;Q05C07;Q5XKJ1;Q8IVS1;Q8IXG4;Q9H7X1", "ec_number_list": "", "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0160178 dipeptide uniporter activity;GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0005764 lysosome;GO:0005765 lysosomal membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0050821 protein stabilization;GO:0061462 protein localization to lysosome;GO:0141204 dipeptide transmembrane transport from lysosomal lumen to cytosol", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q9H3U5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZTZ1-1", "uniprot_id": "MSD1_HUMAN", "mass": 31632.0, "length": 278, "protein_name": "Myb/SANT-like DNA-binding domain-containing protein 1", "gene_name": "MSANTD1", "organism": "Human", "refseq_name": "myb/SANT-like DNA-binding domain-containing protein 1 isoform 1", "refseq_ac": "NP_001036155", "gene_names_uniprotkb": "MSANTD1; C4orf44", "gene_names_refseq": "C4orf44; MSANTD1", "protein_names_uniprotkb": "Myb/SANT-like DNA-binding domain-containing protein 1", "protein_names_refseq": "Myb/SANT-like DNA-binding domain containing 1; myb/SANT-like DNA-binding domain-containing protein 1 isoform 1; myb/SANT-like DNA-binding domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:345222)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;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": "C9J6V0", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016604 nuclear body", "go_biological_process": "GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q6ZTZ1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75448-1", "uniprot_id": "MED24_HUMAN", "mass": 110305.0, "length": 989, "protein_name": "Mediator of RNA polymerase II transcription subunit 24", "gene_name": "MED24", "organism": "Human", "refseq_name": "mediator of RNA polymerase II transcription subunit 24 isoform 2", "refseq_ac": "NP_001072986", "gene_names_uniprotkb": "MED24; ARC100; CRSP4; DRIP100; KIAA0130; THRAP4; TRAP100", "gene_names_refseq": "ARC100; CRSP100; CRSP4; DRIP100; MED24; MED5; THRAP4; TRAP100", "protein_names_uniprotkb": "Mediator of RNA polymerase II transcription subunit 24; ARC100; Activator-recruited cofactor 100 kDa component; CRSP complex subunit 4; Cofactor required for Sp1 transcriptional activation subunit 4; DRIP100; Mediator complex subunit 24; Thyroid hormone receptor-associated protein 4; Thyroid hormone receptor-associated protein complex 100 kDa component; Trap100; Vitamin D3 receptor-interacting protein complex 100 kDa component; hTRAP100", "protein_names_refseq": "CRSP complex subunit 4; activator-recruited cofactor 100 kDa component; cofactor required for Sp1 transcriptional activation subunit 4; cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa; mediator of RNA polymerase II transcription subunit 24 isoform 2; mediator of RNA polymerase II transcription subunit 24; mediator of RNA polymerase II transcription, subunit 24 homolog; thyroid hormone receptor-associated protein 4; thyroid hormone receptor-associated protein complex 100 kDa component; vitamin D3 receptor-interacting protein complex 100 kDa component; vitamin D3 receptor-interacting protein complex component DRIP100", "tax_id": 9606, "disease": "Hirschsprung's disease (Disease Ontology:DOID:10487); intestinal disease (Disease Ontology:DOID:5295); neuropathy (Disease Ontology:DOID:870)", "pathway": " (hsa:9862); (R-HSA-1989781); (R-HSA-212436); (R-HSA-381340); (R-HSA-9833110); (R-HSA-9841922)", "pathway_count": 6, "publication_count": 177, "publication_id_list": "10024883;10075656;10235266;10235267;10330177;10425206;10558993;10777541;10835357;10882139;11027271;11095972;11237011;11267664;11395415;11607032;11872672;12118000;12177166;12213831;12218053;12505311;12582161;12829629;1310260;14519192;14976261;15067378;15130092;15175151;15175163;15273253;15302935;15635043;15850785;15896744;15919796;15989967;16380219;16595664;16606702;16719718;16972786;17011499;17761950;17980149;18420935;18452278;18540824;18669648;18691976;18719978;18848529;18931025;19043829;19088433;19115207;19172745;19413330;19415658;19651622;19664994;19664995;19690332;19710929;19934321;20058876;20068231;20101261;20110263;20410276;21406692;2163759;21972290;22090124;22424782;23186163;23239344;23481700;24196956;24715725;25505266;25576301;25854864;26154972;26375851;26992070;27163155;27600516;27846572;27893789;27920218;28218747;28228285;28649982;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632711;29786170;30315122;30410026;30429286;30524438;31092671;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33329381;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;34019948;34087483;34171305;34211107;34405274;34509645;34932366;35051231;35318648;35561310;35580925;36010968;36102648;36215666;36241641;37938771;39894887;40914422;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, PubMed, PubMed]; This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; This study shows that haplotypes consisting of single nucleotide polymorphisms harboring PSMD3, CSF3 and MED24 genes are associated with asthma in Slovenian 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": 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": 10, "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": "A8K4S5;B3KMR9;Q14143;Q9NNY5", "ec_number_list": "", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0046966 nuclear thyroid hormone receptor binding;GO:0003712 transcription coregulator activity;GO:0042809 nuclear vitamin D receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016592 mediator complex", "go_biological_process": "GO:0060261 positive regulation of transcription initiation by RNA polymerase II;GO:0045893 positive regulation of DNA-templated transcription;GO:0032968 positive regulation of transcription elongation by RNA polymerase II;GO:0051123 RNA polymerase II preinitiation complex assembly;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 18.0, "record_id": "O75448-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y2X0-1", "uniprot_id": "MED16_HUMAN", "mass": 96793.0, "length": 877, "protein_name": "Mediator of RNA polymerase II transcription subunit 16", "gene_name": "MED16", "organism": "Human", "refseq_name": "mediator of RNA polymerase II transcription subunit 16", "refseq_ac": "NP_005472", "gene_names_uniprotkb": "MED16; DRIP92; THRAP5", "gene_names_refseq": "DRIP92; GGNS; MED16; THRAP5; TRAP95", "protein_names_uniprotkb": "Mediator of RNA polymerase II transcription subunit 16; DRIP92; Mediator complex subunit 16; Thyroid hormone receptor-associated protein 5; Thyroid hormone receptor-associated protein complex 95 kDa component; Trap95; Vitamin D3 receptor-interacting protein complex 92 kDa component", "protein_names_refseq": "mediator of RNA polymerase II transcription subunit 16; thyroid hormone receptor-associated protein 5; thyroid hormone receptor-associated protein complex 95 kDa component; thyroid hormone receptor-associated protein, 95-kD subunit; vitamin D3 receptor-interacting protein complex 92 kDa component", "tax_id": 9606, "disease": "Guillouet-Gordon syndrome (MONDO:MONDO:0979227)", "pathway": " (hsa:10025); (R-HSA-1989781); (R-HSA-212436); (R-HSA-381340); (R-HSA-9833110); (R-HSA-9841922)", "pathway_count": 6, "publication_count": 148, "publication_id_list": "10075656;10198638;10235266;10330177;10425206;10558993;10777541;10835357;10882139;11027271;11095972;11237011;11267664;11395415;11607032;11872672;12118000;12177166;12213831;12505311;12582161;12829629;1310260;14519192;14976261;15067378;15130092;15175151;15175163;15273253;15635043;15850785;15896744;15919796;15989967;16380219;16606702;16719718;16972786;17011499;17761950;17980149;18420935;18540824;18719978;18848529;18931025;19043829;19088433;19115207;19172745;19710929;19934321;20068231;20101261;20110263;20112406;20410276;2163759;22090124;23239344;24196956;24366607;24715725;25418920;25576301;25854864;25880248;26154972;26811146;26992070;27846572;27862975;27920218;28063628;28218747;28228285;28649982;28832583;28834231;28860189;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29786170;30315122;30379171;30429286;30524438;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32532820;32897882;32938616;32983136;33141586;33298915;33329381;33592498;33633747;33691108;33912179;33936100;33968037;33981976;34019948;34171305;35051231;35318648;35561310;35580925;36010968;36102648;36284347;38838015;40081376;40596516;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, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Mediator complex subunit 16 is down-regulated in papillary thyroid cancer, leading to increased transforming growth factor-beta signaling and radioiodine resistance., [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": 1, "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": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q6PJT2;Q96AD4;Q96I35;Q9Y652", "ec_number_list": "", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0046966 nuclear thyroid hormone receptor binding;GO:0042809 nuclear vitamin D receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016020 membrane;GO:0016592 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:0045893 positive regulation of DNA-templated transcription;GO:0006366 transcription by RNA polymerase II;GO:0032968 positive regulation of transcription elongation by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 15.2, "record_id": "Q9Y2X0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IVE3-1", "uniprot_id": "PKHH2_HUMAN", "mass": 168229.0, "length": 1493, "protein_name": "Pleckstrin homology domain-containing family H member 2", "gene_name": "PLEKHH2", "organism": "Human", "refseq_name": "pleckstrin homology domain-containing family H member 2", "refseq_ac": "NP_742066", "gene_names_uniprotkb": "PLEKHH2; KIAA2028", "gene_names_refseq": "PLEKHH1L; PLEKHH2", "protein_names_uniprotkb": "Pleckstrin homology domain-containing family H member 2", "protein_names_refseq": "pleckstrin homology domain containing, family H (with MyTH4 domain) member 2; pleckstrin homology domain-containing family H member 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:130271)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;18077418;18752002;22832517;24715725;26992070;28904123;29557506;30379171;31844290;32157095;32938616;33141586;33592498;34171305;35051231", "class_list": "", "function": "In the kidney glomerulus may play a role in linking podocyte foot processes to the glomerular basement membrane. May be involved in stabilization of F-actin by attenuating its depolymerization. Can recruit TGFB1I1 from focal adhesions to podocyte lamellipodia., [UniProtKB]; PLEKHH2, which has mRNA and protein expression exclusively in the glomerulus, may be a genetic risk factor for susceptibility to diabetic nephropathy in the diabetic population GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Suggest a structural and functional role for Plekhh2 in the podocyte foot processes., [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": 1, "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": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q5JPJ6;Q6P4Q1;Q8N3Q3", "ec_number_list": "", "go_molecular_function": "GO:0003779 actin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0030027 lamellipodium;GO:0030864 cortical actin cytoskeleton", "go_biological_process": "GO:0030835 negative regulation of actin filament depolymerization", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q8IVE3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BPX6-1", "uniprot_id": "MICU1_HUMAN", "mass": 54351.0, "length": 476, "protein_name": "Calcium uptake protein 1, mitochondrial", "gene_name": "MICU1", "organism": "Human", "refseq_name": "calcium uptake protein 1, mitochondrial isoform 2", "refseq_ac": "NP_001182447", "gene_names_uniprotkb": "MICU1; CALC; CBARA1", "gene_names_refseq": "CALC; CBARA1; EFHA3; MICU1; MPXPS; ara CALC", "protein_names_uniprotkb": "Calcium uptake protein 1, mitochondrial; Atopy-related autoantigen CALC; Calcium-binding atopy-related autoantigen 1; ara CALC", "protein_names_refseq": "atopy-related autoantigen CALC; calcium uptake protein 1, mitochondrial isoform 2; calcium uptake protein 1, mitochondrial; calcium-binding atopy-related autoantigen 1", "tax_id": 9606, "disease": "myopathy with extrapyramidal signs (Disease Ontology:DOID:0111335); neurodegenerative disease (Disease Ontology:DOID:1289)", "pathway": " (hsa:10367); (R-HSA-8949215); (R-HSA-8949664)", "pathway_count": 3, "publication_count": 137, "publication_id_list": "11230166;11237011;12438411;15904662;16002733;17178908;18628306;19797662;19919870;20018762;20693986;20877624;21685886;21685888;21720385;22544926;22904319;23101630;23178883;23409044;23481700;23716663;23747253;23755363;23900286;24162235;24231807;24313810;24332854;24336167;24344246;24430870;24503055;24514027;24560927;24898248;25077561;25171321;25565209;25576301;25753332;25892735;26154972;26341627;26375851;26387864;26489515;26903221;26976564;26992070;27099988;27123478;27600516;27642048;27642082;27669901;27737933;27818145;27920218;28218747;28228285;28514659;28615291;28832583;28834231;29242379;29393594;29437277;29557506;29632046;29632711;29769354;29786170;30082385;30315122;30403999;30410026;30429286;30454562;30638448;30779550;30833945;31217245;31397067;31427612;31530632;31844290;31848261;31937595;31998317;32148862;32157095;32350084;32387766;32395406;32488085;32494073;32502341;32667285;32762847;32790952;32862359;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33428302;33592498;33717175;33968037;33969448;33981976;34087483;34171305;34211107;34357683;34405274;34463251;34509645;34561969;34932366;35051231;35580925;36010968;36206740;36241641;37036971;37098122;37126688;37217939;37244260;39163336;7399049;9806765", "class_list": "", "function": "Calcium sensor of the mitochondrial calcium uniporter (MCU) channel, which senses calcium level via its EF-hand domains (PubMed:20693986, PubMed:23101630, PubMed:23747253, PubMed:24313810, PubMed:24332854, PubMed:24503055, PubMed:24560927, PubMed:26341627, PubMed:26903221, PubMed:27099988, PubMed:28615291, PubMed:30454562, PubMed:30638448, PubMed:32494073, PubMed:32667285, PubMed:32762847, PubMed:32790952, PubMed:34463251, PubMed:36206740, PubMed:37036971, PubMed:37126688). MICU1 and MICU2 (or MICU3) form a disulfide-linked heterodimer that stimulates and inhibits MCU activity, depending on the concentration of calcium (PubMed:24560927, PubMed:26903221, PubMed:28615291, PubMed:32148862, PubMed:32494073, PubMed:32667285, PubMed:32762847, PubMed:32790952, PubMed:36206740, PubMed:37036971, PubMed:37126688). At low calcium levels, MICU1 occludes the pore of the MCU channel, preventing mitochondrial calcium uptake (PubMed:32494073, PubMed:32667285, PubMed:32762847, PubMed:37036971, PubMed:37126688). At higher calcium levels, calcium-binding to MICU1 and MICU2 (or MICU3) induces a conformational change that weakens MCU-MICU1 interactions and moves the MICU1-MICU2 heterodimer away from the pore, allowing calcium permeation through the MCU channel (PubMed:32494073, PubMed:32667285, PubMed:32762847). Also required to protect against manganese toxicity by preventing manganese uptake by MCU: mechanistically, manganese-binding to its EF-hand domains does not induce any conformational change, maintaining MCU pore occlusion (PubMed:30082385, PubMed:30403999). Also acts as a barrier for inhibitors of the MCU channel, such as ruthenium red or its derivative Ru360 (PubMed:37244260). Acts as a regulator of mitochondrial cristae structure independently of its ability to regulate the mitochondrial calcium uniporter channel (PubMed:31427612, PubMed:37098122). Regulates glucose-dependent insulin secretion in pancreatic beta-cells by regulating mitochondrial calcium uptake (PubMed:22904319). Induces T-helper 1-mediated autoreactivity, which is accompanied by the release of IFNG (PubMed:16002733)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Isoform that regulates mitochondrial calcium uniporter (MCU) in the skeletal muscle (By similarity). Compared to other isoforms, this isoform has higher affinity for calcium, promoting mitochondrial calcium uptake at lower calcium concentrations (By similarity). This allows a rapid response of mitochondrial metabolism and ensures sustained ATP production needed for resistance and strenuous exercise (By similarity)., [UniProtKB, UniProtKB]; MICU1 and MICU2 control mitochondrial calcium signaling in the mammalian heart., [RefSeq, PubMed]; MICU1 is a gatekeeper of mitochondrial calcium uniporter-mediated Ca(2 )uptake that is essential to prevent [Ca(2 )]overload and associated stress., [RefSeq, PubMed]; MICU1 physically interacts with MCU, a principal component of the mitochondrial calcium uniporter. Publication Status: Online-Only, [RefSeq, PubMed]; MICU1 represents the founding member of a set of proteins required for high-capacity mitochondrial calcium uptake GeneRIF: MICU1 (CBARA1) is an EF-hand containing protein associated with the mitochondrial inner membrane. It is required for mitochondrial calcium uptake in HeLa cells., [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]; This gene encodes an essential regulator of mitochondrial Ca2+ uptake under basal conditions. The encoded protein interacts with the mitochondrial calcium uniporter, a mitochondrial inner membrane Ca2+ channel, and is essential in preventing mitochondrial Ca2+ overload, which can cause excessive production of reactive oxygen species and cell stress. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 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": 1, "reported_mutagensis": 33, "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": "A0A0U1RRK1;A8MV96;B3KN20;B4DJH9;B4DPI1;B5MBY3;D3YTJ3;O75785;Q9H9N6;Q9UFX0", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0046982 protein heterodimerization activity;GO:0005509 calcium ion binding;GO:0019855 calcium channel inhibitor activity;GO:0061891 calcium ion sensor activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005758 mitochondrial intermembrane space;GO:0031966 mitochondrial membrane;GO:0034704 calcium channel complex", "go_biological_process": "GO:0006952 defense response;GO:0051260 protein homooligomerization;GO:0071277 cellular response to calcium ion;GO:0006851 mitochondrial calcium ion transmembrane transport;GO:0036444 calcium import into the mitochondrion", "synthesized_glycan_count": 0, "hit_score": 14.0, "record_id": "Q9BPX6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O15068-1", "uniprot_id": "MCF2L_HUMAN", "mass": 128109.0, "length": 1137, "protein_name": "Guanine nucleotide exchange factor DBS", "gene_name": "MCF2L", "organism": "Human", "refseq_name": "guanine nucleotide exchange factor DBS isoform a", "refseq_ac": "NP_001106203", "gene_names_uniprotkb": "MCF2L; KIAA0362; OST", "gene_names_refseq": "ARHGEF14; DBS; MCF2L; OST", "protein_names_uniprotkb": "Guanine nucleotide exchange factor DBS; DBL's big sister; MCF2-transforming sequence-like protein", "protein_names_refseq": "DBL's big sister; MCF2 transforming sequence-like protein; guanine nucleotide exchange factor DBS isoform a; guanine nucleotide exchange factor DBS", "tax_id": 9606, "disease": "", "pathway": " (hsa:23263); (R-HSA-193648); (R-HSA-416482); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013408)", "pathway_count": 9, "publication_count": 369, "publication_id_list": "10037681;10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10619026;10652265;10699171;10699464;10724160;10873388;10873802;10958683;11007481;11058585;11085924;11149925;11207612;11237011;11283606;11294240;11306516;11313914;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11680691;11689693;11696321;11704860;11707441;11742120;11756498;11756552;11773441;11803464;11804587;11804589;11804590;11864571;11884391;11912491;11948177;11961559;11967128;12071859;12093360;12096337;12097334;12101119;12123608;12172552;12177196;12195014;12221077;12221096;12351724;12376551;12432077;12433842;12464619;12473120;12515866;12531887;12546821;12547822;12650940;12665586;12773384;12857875;12860998;12877655;12907671;12923183;14506234;14512443;14514689;1464587;14673001;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15147912;15157669;15260990;15302923;15304341;15339924;15342493;15470142;15485661;15507211;15579468;15601624;15611138;15699075;15728722;15749160;15850391;15858067;15866170;15897194;15944396;15951850;16002401;16112081;16116428;16184169;16212495;16217026;16243036;16339170;16467373;16473593;16492808;16507994;16519628;16630611;16636067;16702231;16714282;16762923;16776779;16777452;16777849;16862148;16896804;16914516;16917499;16923326;16968698;17027967;17064668;17077126;17145773;17196961;17198702;17214551;17244649;17562871;17583407;17599059;17702745;17765681;17804252;17932950;17942708;17976533;18006505;18045877;18056264;18158243;18218625;18249095;18347018;18363964;18374420;18396277;18426980;18577758;18653540;18786931;18802007;18829452;18835169;18838382;18929667;19212140;19269969;19494238;19581409;19605563;19635168;19673492;19713215;19934221;20030946;20101212;20400958;20460433;20591975;20628200;20660154;20679435;20810653;21148482;21351730;21373644;21454492;21542010;21565175;21576392;21613211;21621533;21685891;21699497;21730051;21757538;21865595;21936715;21989057;22004470;22096251;22298643;22305756;22407364;22461490;22475431;22571869;22608513;22661716;22673745;22734669;22790947;22911862;22970203;22992742;23200924;23209303;23255595;23288169;23406282;23434736;23572525;23707487;23718289;23870313;23940355;24086303;24128008;24259668;24335996;24352656;24584464;24659802;24859002;24933155;24960694;24996924;25024229;25211221;25414122;25425145;25428919;25673874;25704760;25721503;25795300;25862245;25963737;26129894;26299518;26371245;26529257;26584642;26598554;26887924;27072905;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27600516;27713499;27798618;27806292;27986909;28028151;28112683;28114311;28196833;28584191;28825699;28860633;29039610;29089502;29146911;29358323;29382922;29557506;29786170;30007591;30061681;30853411;31105010;31217245;31732956;31844290;31871319;32157095;32203420;32983136;33592498;34185709;34592939;35051231;35580925;7476457;7479768;7512369;7559638;7673236;7721814;7753201;7835339;7937899;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;9308960;9405671;9418861;9438849;9490638;9497316;9520479;9535835;9548756;9582072;9659915;9670022;9792683;9796816;9822598;9822605;9829970;9843499;9846874;9988689", "class_list": "", "function": "Does not catalyze guanine nucleotide exchange on CDC42 (PubMed:15157669)., [UniProtKB, PubMed]; Guanine nucleotide exchange factor that catalyzes guanine nucleotide exchange on RHOA and CDC42, and thereby contributes to the regulation of RHOA and CDC42 signaling pathways (By similarity). Seems to lack activity with RAC1. Becomes activated and highly tumorigenic by truncation of the N-terminus (By similarity). Isoform 5 activates CDC42 (PubMed:15157669)., [UniProtKB, UniProtKB, PubMed]; LncRNA MCF2L-AS1 aggravates the malignant development of colorectal cancer via targeting miR-105-5p/RAB22A axis. Publication Status: Online-Only, [RefSeq, PubMed]; MCF2L is subject to a cis-acting eQTL in synovial membrane that correlates with the OA association signal. This signal contains several functional SNPs that could account for the susceptibility and which therefore merit further investigation Publication Status: Online-Only, [RefSeq, PubMed]; MiR-140-3p exhibits repressive functions on preosteoblast viability and differentiation by downregulating MCF2L in osteoporosis., [RefSeq, PubMed]; This gene encodes a guanine nucleotide exchange factor that interacts specifically with the GTP-bound Rac1 and plays a role in the Rho/Rac signaling pathways. A variant in this gene was associated with osteoarthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]., [RefSeq]; When compared to the gemcitabine-sensitive cells, the gemcitabine-resistant cells had a higher level of MCF2L expression, suggesting that MCF2L plays an important role in gemcitabine resistance, [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": 7, "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": "A2A2X1;A2A2X2;A2A3G6;A2A3G8;B4DHD6;B4DIL6;E9PDN8;Q5JU56;Q5VXT1;Q6ZWD4;Q765G8;Q765G9;Q8N679", "ec_number_list": "", "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity;GO:0035091 phosphatidylinositol binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0031234 extrinsic component of cytoplasmic side of plasma membrane", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0035025 positive regulation of Rho protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 37.0, "record_id": "O15068-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q53F39-1", "uniprot_id": "MPPE1_HUMAN", "mass": 45141.0, "length": 396, "protein_name": "Metallophosphoesterase 1", "gene_name": "MPPE1", "organism": "Human", "refseq_name": "metallophosphoesterase 1 isoform 2", "refseq_ac": "NP_001229833", "gene_names_uniprotkb": "MPPE1; PGAP5; PP579", "gene_names_refseq": "Cdc1; MPPE1; PGAP5", "protein_names_uniprotkb": "Metallophosphoesterase 1; 3.1.-.-; Post-GPI attachment to proteins factor 5", "protein_names_refseq": "metallo phosphoesterase; metallophosphoesterase 1 isoform 2; post-GPI attachment to proteins 5; post-GPI attachment to proteins factor 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:65258)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11978971;15498874;19328558;19837036;19859903;23481700;24190977;25418920;25645385;25892735;26929215;28063628;28218747;28228285;28904123;29374258;29393594;29437277;29632046;30315122;30410026;30429286;31844290;32157095;32357974;32387766;32897882;32938616;33054568;33298915;33717175;34357683;34509645;35051231;37074911", "class_list": "", "function": "CDNA cloning, genomic organization and expression of the novel human metallophosphoesterase gene MPPE1 on chromosome 18p11.2, [RefSeq, PubMed]; Data demonstrate that glycosylphosphatidylinositol(GPI) glycan acts as an endoplasmic reticulum-exit signal and suggest that glycan remodeling mediated by PGAP5 regulates GPI-anchored proteins transport in the early secretory pathway., [RefSeq, PubMed]; Metallophosphoesterase 1, a novel candidate gene in hepatocellular carcinoma malignancy and recurrence., [RefSeq, PubMed]; Metallophosphoesterase that catalyzes the removal of a side-chain ethanolamine-phosphate (EtNP) from the second mannose of the GPI-anchor protein intermediate. Participates in the glycan remodeling steps of GPI-anchor maturation to allow an efficient transport of GPI-anchor proteins from the endoplasmic reticulum to the Golgi., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; These results provide evidence of an association between a polymorphism in the MPPE1 gene and bipolar disorder. 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": 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": 10, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 9718, "biomarker_type": "", "glycan_count": 9, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B0YJ39;B0YJ40;B0YJ41;B5ME53;B7WNJ3;D3DUI5;D3DUI7;Q6GMP1;Q8TAD6;Q8TE26;Q8WZ32;Q9BU58;Q9H958;Q9HAI4", "ec_number_list": "3.1.-.-", "go_molecular_function": "GO:0030145 manganese ion binding;GO:0062050 GPI-mannose ethanolamine phosphate phosphodiesterase activity;GO:0016787 hydrolase activity;GO:0046872 metal ion binding;GO:0008081 phosphoric diester hydrolase activity", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane;GO:0070971 endoplasmic reticulum exit site;GO:0016020 membrane", "go_biological_process": "GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0006506 GPI anchor biosynthetic process;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q53F39-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HBG7-1", "uniprot_id": "LY9_HUMAN", "mass": 72139.0, "length": 655, "protein_name": "T-lymphocyte surface antigen Ly-9", "gene_name": "LY9", "organism": "Human", "refseq_name": "T-lymphocyte surface antigen Ly-9 isoform b precursor", "refseq_ac": "NP_001028839", "gene_names_uniprotkb": "LY9; CDABP0070", "gene_names_refseq": "CD229; LY9; SLAMF3; hly9; mLY9", "protein_names_uniprotkb": "T-lymphocyte surface antigen Ly-9; Cell surface molecule Ly-9; Lymphocyte antigen 9; SLAM family member 3; SLAMF3; Signaling lymphocytic activation molecule 3", "protein_names_refseq": "SLAM family member 3; T-lymphocyte surface antigen Ly-9 isoform b precursor; T-lymphocyte surface antigen Ly-9; cell surface molecule Ly-9; signaling lymphocytic activation molecule 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:4063)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "10.1101/2023.09.13.557529;10970093;11237011;11389028;12458214;18512783;19349973;19901323;22184727;22989874;23481700;24190977;25502872;25548167;26221972;27846572;28218747;28832583;29242379;29314611;29437277;29557506;29632711;29789417;30459171;30524438;31332162;31844290;31974290;32350084;32818503;33043033;33141586;33633747;33912179;33936100;34211107;34357683;35051231;35132862;35154160;35561310;35580925;35705054;36445333;38061117;38253038;40307207;8537117", "class_list": "", "function": "CD229 interacts with RASAL3 to activate RAS/ERK pathway in multiple myeloma proliferation. Erratum:[Aging (Albany NY). 2023 Aug 28;15(16):8528-8529. doi: 10.18632/aging.205006. PMID: 37635436], [RefSeq, PubMed]; LY9 belongs to the SLAM family of immunomodulatory receptors (see SLAMF1; MIM 603492) and interacts with the adaptor molecule SAP (SH2D1A; MIM 300490) (Graham et al., 2006 [PubMed 16365421]).[supplied by OMIM, Mar 2008]., [RefSeq]; SLAMF3 expression is upregulated on T cells from type 2 diabetes patients and associated with T-cell activation and cytokine production. Publication Status: Online-Only, [RefSeq, PubMed]; SLAMF3 promotes Th17 differentiation and is reversed by iguratimod through JAK1/STAT3 pathway in primary Sjogren's syndrome., [RefSeq, PubMed]; SLAMF3-Mediated Signaling via ERK Pathway Activation Promotes Aggressive Phenotypic Behaviors in Multiple Myeloma., [RefSeq, PubMed]; Self-ligand receptor of the signaling lymphocytic activation molecule (SLAM) family. SLAM receptors triggered by homo- or heterotypic cell-cell interactions are modulating the activation and differentiation of a wide variety of immune cells and thus are involved in the regulation and interconnection of both innate and adaptive immune response. Activities are controlled by presence or absence of small cytoplasmic adapter proteins, SH2D1A/SAP and/or SH2D1B/EAT-2. May participate in adhesion reactions between T lymphocytes and accessory cells by homophilic interaction. Promotes T-cell differentiation into a helper T-cell Th17 phenotype leading to increased IL-17 secretion; the costimulatory activity requires SH2D1A (PubMed:22184727). Promotes recruitment of RORC to the IL-17 promoter (PubMed:22989874). May be involved in the maintenance of peripheral cell tolerance by serving as a negative regulator of the immune response. May disable autoantibody responses and inhibit IFN-gamma secretion by CD4(+) T-cells. May negatively regulate the size of thymic innate CD8(+) T-cells and the development of invariant natural killer T (iNKT) cells (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; The SLAMF3 rs509749 polymorphism correlates with malignant potential in multiple myeloma., [RefSeq, PubMed]", "predicted_glycosites": 6, "predicted_n_glycosites": 5, "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": 1, "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": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 38, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "A8K7N3;Q14775;Q5VYI3;Q6P2J4;Q9H4N5;Q9NQ24", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0032740 positive regulation of interleukin-17 production;GO:0006955 immune response;GO:0007155 cell adhesion;GO:0045087 innate immune response;GO:0042110 T cell activation", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q9HBG7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q06455-1", "uniprot_id": "MTG8_HUMAN", "mass": 67566.0, "length": 604, "protein_name": "Protein CBFA2T1", "gene_name": "RUNX1T1", "organism": "Human", "refseq_name": "protein CBFA2T1 isoform A", "refseq_ac": "NP_001185554", "gene_names_uniprotkb": "RUNX1T1; AML1T1; CBFA2T1; CDR; ETO; MTG8; ZMYND2", "gene_names_refseq": "AML1-MTG8; AML1T1; CBFA2T1; CDR; ETO; MTG8; RUNX1T1; ZMYND2", "protein_names_uniprotkb": "Protein CBFA2T1; Cyclin-D-related protein; Eight twenty one protein; Protein ETO; Protein MTG8; Zinc finger MYND domain-containing protein 2", "protein_names_refseq": "RUNX1 translocation partner 1; acute myelogenous leukemia 1 translocation 1, cyclin-D related; core-binding factor, runt domain, alpha subunit 2; cyclin D-related; eight twenty one protein; myeloid translocation gene on 8q22; protein CBFA2T1 isoform A; runt related transcription factor 1; translocated to, 1 (cyclin D related); translocated to, 1; zinc finger MYND domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:862)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "10688654;10973986;11237011;12242670;12559562;1423235;15203199;16616331;16803958;16959974;17560331;17572682;19202074;19413330;19664995;21406692;23251453;23812588;29485866;29786170;30379171;31848261;31998317;33141586;34509645;37340703;37951201;38243303;38992040;39177514;7541640;7919324;8137293;8334990;8353289;9661669", "class_list": "", "function": "CNS erythroblastic sarcoma: a potential emerging pediatric tumor type characterized by NFIA::RUNX1T1/3 fusions. Publication Status: Online-Only, [RefSeq, PubMed]; Mutational cooperativity of RUNX1::RUNX1T1 isoform 9a and oncogenic NRAS in zebrafish myeloid leukaemia., [RefSeq, PubMed]; Single-cell RNA-seq reveals novel immune-associated biomarkers for predicting prognosis in AML patients with RUNX1::RUNX1T1., [RefSeq, PubMed]; The transcriptional co-repressor Runx1t1 is essential for MYCN-driven neuroblastoma tumorigenesis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]., [RefSeq]; Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes (PubMed:10688654, PubMed:12559562, PubMed:15203199). Can repress the expression of MMP7 in a ZBTB33-dependent manner (PubMed:23251453). Can repress transactivation mediated by TCF12 (PubMed:16803958). Acts as a negative regulator of adipogenesis (By similarity). The AML1-MTG8/ETO fusion protein frequently found in leukemic cells is involved in leukemogenesis and contributes to hematopoietic stem/progenitor cell self-renewal (PubMed:23812588)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, 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": 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": 24, "reported_glycation": 0, "reported_snv": 52, "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": "B7Z4P4;E7EPN4;O14784;Q06456;Q14873;Q16239;Q16346;Q16347;Q6IBL1;Q6NXH1;Q7Z4J5;Q92479;Q9BRZ0", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0003714 transcription corepressor activity;GO:0140297 DNA-binding transcription factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016363 nuclear matrix", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription;GO:0045599 negative regulation of fat cell differentiation", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q06455-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O00587-1", "uniprot_id": "MFNG_HUMAN", "mass": 36202.0, "length": 321, "protein_name": "Beta-1,3-N-acetylglucosaminyltransferase manic fringe", "gene_name": "MFNG", "organism": "Human", "refseq_name": "beta-1,3-N-acetylglucosaminyltransferase manic fringe isoform 2", "refseq_ac": "NP_001159815", "gene_names_uniprotkb": "MFNG", "gene_names_refseq": "MFNG", "protein_names_uniprotkb": "Beta-1,3-N-acetylglucosaminyltransferase manic fringe; 2.4.1.222; O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase", "protein_names_refseq": "O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase; beta-1,3-N-acetylglucosaminyltransferase manic fringe isoform 2; beta-1,3-N-acetylglucosaminyltransferase manic fringe", "tax_id": 9606, "disease": "", "pathway": " (hsa:4242); (R-HSA-1912420)", "pathway_count": 2, "publication_count": 69, "publication_id_list": "10075724;10366590;10459009;10545110;10669757;10935626;10935637;11135303;11237011;11530204;11707585;12049766;1295745;1764995;18477386;19701457;20170518;20197277;20237496;21097675;23481700;24190977;24715725;25418920;25505266;25576301;25808869;26154972;27846572;27920218;28218747;28467828;28649982;28832583;28904123;29242379;29314611;29393594;29437277;29493099;29557506;29632046;30065304;30315122;30573663;31844290;31848261;32157095;32350084;32357974;32502341;33141586;33298915;33691108;33936100;34357683;34371013;34561969;35051231;35154160;37496053;7918097;8293978;8681805;9187150;9207795;9244302;9653148;9727485", "class_list": "glycogene;glycosyltransferase", "function": "Glycosyltransferase that initiates the elongation of O-linked fucose residues attached to EGF-like repeats in the extracellular domain of Notch molecules (By similarity). Modulates NOTCH1 activity by modifying O-fucose residues at specific EGF-like domains resulting in inhibition of NOTCH1 activation by JAG1 and enhancement of NOTCH1 activation by DLL1 via an increase in its binding to DLL1 (By similarity)., [UniProtKB, UniProtKB]; MFNG imposes a negative correlation between Jag1 and Notch, being high Jag1 in the absence of MFNG predictive of poor prognosis. Publication Status: Online-Only, [RefSeq, PubMed]; MFNG is an independent prognostic marker for osteosarcoma. Publication Status: Online-Only, [RefSeq, PubMed]; Mfng is an oncogene acting through Notch-mediated induction of Pik3cg., [RefSeq, PubMed]; Nuclear and stromal expression of Manic fringe in renal cell carcinoma., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene is a member of the glycosyltransferase 31 gene family. Members of this gene family, which also includes the LFNG (GeneID: 3955) and RFNG (GeneID: 5986) genes, encode evolutionarily conserved glycosyltransferases that act in the Notch signaling pathway to define boundaries during embryonic development. While their genomic structure is distinct from other glycosyltransferases, these proteins have a fucose-specific beta-1,3-N-acetylglucosaminyltransferase activity that leads to elongation of O-linked fucose residues on Notch, which alters Notch signaling. The protein encoded by this gene may control Notch signaling in claudin-low breast cancer. [provided by RefSeq, May 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": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "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": 419, "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": "B4DLT6;O43730;Q504S9", "ec_number_list": "2.4.1.222", "go_molecular_function": "GO:0046872 metal ion binding;GO:0033829 O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity;GO:0016757 glycosyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005615 extracellular space;GO:0016020 membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0007389 pattern specification process;GO:0002315 marginal zone B cell differentiation;GO:0008593 regulation of Notch signaling pathway", "synthesized_glycan_count": 19, "hit_score": 7.3, "record_id": "O00587-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NVC6-1", "uniprot_id": "MED17_HUMAN", "mass": 72890.0, "length": 651, "protein_name": "Mediator of RNA polymerase II transcription subunit 17", "gene_name": "MED17", "organism": "Human", "refseq_name": "mediator of RNA polymerase II transcription subunit 17", "refseq_ac": "NP_004259", "gene_names_uniprotkb": "MED17; ARC77; CRSP6; DRIP77; DRIP80; TRAP80", "gene_names_refseq": "CRSP6; CRSP77; DRIP80; MED17; SRB4; TRAP80", "protein_names_uniprotkb": "Mediator of RNA polymerase II transcription subunit 17; ARC77; Activator-recruited cofactor 77 kDa component; CRSP complex subunit 6; Cofactor required for Sp1 transcriptional activation subunit 6; DRIP80; Mediator complex subunit 17; Thyroid hormone receptor-associated protein complex 80 kDa component; Transcriptional coactivator CRSP77; Trap80; Vitamin D3 receptor-interacting protein complex 80 kDa component", "protein_names_refseq": "ARC77; CRSP complex subunit 6; activator-recruited cofactor 77 kDa component; cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa; epididymis secretory sperm binding protein; mediator of RNA polymerase II transcription subunit 17; thyroid hormone receptor-associated protein complex 80 kDa component; transcriptional coactivator CRSP77; vitamin D3 receptor-interacting protein complex 80 kDa component", "tax_id": 9606, "disease": "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); infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly (Disease Ontology:DOID:0111262); 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); spondyloarthropathy (Disease Ontology:DOID:1123); myopia (Disease Ontology:DOID:11830); Legg-Calve-Perthes disease (Disease Ontology:DOID:14415); hypothyroidism (Disease Ontology:DOID:1459); spondyloepiphyseal dysplasia congenita (Disease Ontology:DOID:14789); osteochondrodysplasia (Disease Ontology:DOID:2256); chondrosarcoma (Disease Ontology:DOID:3371); retinal detachment (Disease Ontology:DOID:5327); eye disease (Disease Ontology:DOID:5614); cleft palate (Disease Ontology:DOID:674); osteoarthritis (Disease Ontology:DOID:8398); chorioretinitis (Disease Ontology:DOID:8886); degenerative disc disease (Disease Ontology:DOID:90)", "pathway": " (hsa:9440); (R-HSA-1989781); (R-HSA-212436); (R-HSA-381340); (R-HSA-9833110); (R-HSA-9841922)", "pathway_count": 6, "publication_count": 154, "publication_id_list": "10075656;10198638;10235266;10235267;10330177;10425206;10558993;10777541;10835357;10882139;11027271;11095972;11237011;11267664;11395415;11607032;11872672;12118000;12177166;12213831;12505311;12509459;12582161;12584197;12829629;1310260;14519192;14976261;15067378;15130092;15175151;15175163;15273253;15635043;15850785;15896744;15919796;15989967;16380219;16595664;16606702;16719718;16972786;17011499;17287340;17525332;17761950;17980149;18420935;18540824;18691976;18719978;18848529;18931025;18991276;19043829;19088433;19115207;19172745;19710929;19934321;20101261;20110263;20410276;20950787;2163759;21872626;21993680;22090124;23239344;23481700;24196956;24714562;25418920;25502872;25645385;25854864;26154972;26375851;26728094;26811146;26992070;27846572;27920218;28228285;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30379171;31217245;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32357974;32387766;32502341;32897882;32938616;32983136;33298915;33329381;33537174;33592498;33596087;33691108;33717175;33912179;33968037;34019948;34392449;34509645;34932366;35051231;35580925;36010968;36102648;36508181;37217939;38665916;7685352;7892212;8183939;8325954;8521497;8521498;8643605;8647822;8706692;8769649;8770873;8970730;9012850;9065481;9171241;9454824;9637681;9653119;9744270;9748239;9836620;9989412", "class_list": "", "function": "An expansion of phenotype: novel homozygous variant in the MED17 identified in patients with progressive microcephaly and global developmental delay., [RefSeq, PubMed]; 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, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Increased unfolded protein responses caused by MED17 mutations. Erratum:[Neurogenetics. 2022 Jan;23(1):75-76. doi: 10.1007/s10048-021-00669-y. PMID: 34515861], [RefSeq, PubMed]; The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. [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": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 27, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KN07;Q9HA81;Q9UNP7;Q9Y2W0;Q9Y660", "ec_number_list": "", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0061630 ubiquitin protein ligase activity;GO:0046966 nuclear thyroid hormone receptor binding;GO:0003712 transcription coregulator activity;GO:0042809 nuclear vitamin D receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016020 membrane;GO:0005667 transcription regulator complex;GO:0000151 ubiquitin ligase 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:0045944 positive regulation of transcription by RNA polymerase II;GO:0045893 positive regulation of DNA-templated transcription;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 15.7, "record_id": "Q9NVC6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UPQ0-1", "uniprot_id": "LIMC1_HUMAN", "mass": 121867.0, "length": 1083, "protein_name": "LIM and calponin homology domains-containing protein 1", "gene_name": "LIMCH1", "organism": "Human", "refseq_name": "LIM and calponin homology domains-containing protein 1 isoform j", "refseq_ac": "NP_001317713", "gene_names_uniprotkb": "LIMCH1; KIAA1102", "gene_names_refseq": "LIMCH1A; LIMCH1; LMO7B", "protein_names_uniprotkb": "LIM and calponin homology domains-containing protein 1", "protein_names_refseq": "LIM and calponin homology domains-containing protein 1 isoform j; LIM and calponin homology domains-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:22998)", "pathway_count": 1, "publication_count": 54, "publication_id_list": "10.1101/2023.09.13.557529;11237011;15302935;16964243;17081983;18212344;18452278;18491316;18669648;18767875;19413330;19415658;19651622;19664994;20068231;21406692;23186163;24275569;25576301;25645385;27862975;28228547;28657654;28832583;29237092;29242379;29331515;29393594;29557506;29786170;30429017;30429286;31279706;31373491;31492838;31844290;31959624;32157095;32488085;32938616;32983136;33592498;33723390;33968037;34171305;35051231;35254053;35580925;36010968;36215666;36241641;36284347;36444609;37938771", "class_list": "", "function": "A 10-gene prognostic signature points to LIMCH1 and HLA-DQB1 as important players in aggressive cervical cancer disease., [RefSeq, PubMed]; Actin stress fibers-associated protein that activates non-muscle myosin IIa. Activates the non-muscle myosin IIa complex by promoting the phosphorylation of its regulatory subunit MRLC/MYL9. Through the activation of non-muscle myosin IIa, positively regulates actin stress fibers assembly and stabilizes focal adhesions. It therefore negatively regulates cell spreading and cell migration., [UniProtKB, PubMed]; Data suggest that LIMCH1 plays a positive role in regulation of NM-II activity through effects on MRLC during cell migration., [RefSeq, PubMed]; LIMCH1 as a New Potential Metastasis Predictor in Breast Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; LIMCH1 is a negative regulator involved in a new molecular mechanism for the pathogenesis of lung cancer with HUWE1 and p53, [RefSeq, PubMed]; LMO7 and LIMCH1 co-localized and co-immunoprecipitated., [RefSeq, PubMed]; Nup93 regulates breast tumor growth by modulating cell proliferation and actin cytoskeleton remodeling. 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": 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": 61, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 44, "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": "A8MXC3;E9PHM7;Q503B5;Q5CZB1;Q5CZB6;Q5H9S8;Q68E07;Q6PJ44;Q7Z3G5;Q8N3S9;Q8N6M2", "ec_number_list": "", "go_molecular_function": "GO:0003779 actin binding;GO:0046872 metal ion binding;GO:0032034 myosin II head/neck binding", "go_cellular_component": "GO:0015629 actin cytoskeleton;GO:0001725 stress fiber", "go_biological_process": "GO:0051893 regulation of focal adhesion assembly;GO:0060327 cytoplasmic actin-based contraction involved in cell motility;GO:0001934 positive regulation of protein phosphorylation;GO:0030336 negative regulation of cell migration;GO:0051496 positive regulation of stress fiber assembly", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q9UPQ0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VSG8-1", "uniprot_id": "MANEL_HUMAN", "mass": 51317.0, "length": 457, "protein_name": "Glycoprotein endo-alpha-1,2-mannosidase-like protein", "gene_name": "MANEAL", "organism": "Human", "refseq_name": "glycoprotein endo-alpha-1,2-mannosidase-like protein isoform 1", "refseq_ac": "NP_001026910", "gene_names_uniprotkb": "MANEAL", "gene_names_refseq": "MANEAL", "protein_names_uniprotkb": "Glycoprotein endo-alpha-1,2-mannosidase-like protein; 3.2.1.-", "protein_names_refseq": "glycoprotein endo-alpha-1,2-mannosidase-like protein isoform 1; glycoprotein endo-alpha-1,2-mannosidase-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:149175)", "pathway_count": 1, "publication_count": 45, "publication_id_list": "11237011;24366607;24715725;25576301;25645385;25880248;25892735;26154972;27397612;27600516;27846572;27920218;28218747;28228285;28467828;28612835;28832583;28904123;29242379;29393594;29437277;29508533;29557506;29632711;29769354;30315122;30410026;30459171;31092671;31154438;31844290;32157095;32350084;32357974;32502341;33141586;33537174;33592498;33717175;33912179;33968037;33981976;35051231;36284347;36581221", "class_list": "glycogene;glycosylhydrolase", "function": "Loss-of-function variant in MANEAL, coexisting with OSTM1 mutation was identified in a patient with neurological disorder with brain iron accumulation., [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": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 583, "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": "Q6DD86;Q6P497;Q8N5P8;Q96G55;Q96N42", "ec_number_list": "", "go_molecular_function": "GO:0004559 alpha-mannosidase activity;GO:0016798 hydrolase activity, acting on glycosyl bonds", "go_cellular_component": "GO:0000139 Golgi membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q5VSG8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WWI1-1", "uniprot_id": "LMO7_HUMAN", "mass": 192696.0, "length": 1683, "protein_name": "LIM domain only protein 7", "gene_name": "LMO7", "organism": "Human", "refseq_name": "LIM domain only protein 7 isoform 3", "refseq_ac": "NP_001293009", "gene_names_uniprotkb": "LMO7; FBX20; FBXO20; KIAA0858", "gene_names_refseq": "FBX20; FBXO20; LMO7b; LMO7; LOMP", "protein_names_uniprotkb": "LIM domain only protein 7; F-box only protein 20; LMO-7; LOMP", "protein_names_refseq": "F-box only protein 20; F-box protein Fbx20; LIM domain only 7 protein; LIM domain only protein 7 isoform 3; LIM domain only protein 7; LMO-7; zinc-finger domain-containing protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:4008); (R-HSA-8951664); (R-HSA-9725370); (R-HSA-983168)", "pathway_count": 4, "publication_count": 323, "publication_id_list": "10.1101/2023.09.13.557529;10216106;10531035;10535940;10556217;10597293;10702393;10706082;10706887;10811609;10878807;10934142;10973499;11062501;11069780;11110708;11237011;11259415;11280786;11292861;11292862;11310834;11350924;11454738;11504915;11585840;11733065;11751994;11850821;11935316;11943732;11961546;11988758;12101228;12112524;12185581;12186903;12424201;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12750159;12759363;12800156;12816948;12920229;12934099;14690597;14734113;14757770;14962911;15169778;15208656;15224091;15224092;15282312;15361859;15367669;15374880;15537541;15571818;15572695;15574592;15588951;15601839;15652483;15688063;15694336;15799966;15895073;16153455;16161041;16170336;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16825495;16849449;16871283;16939498;16943200;16954532;16959974;16964243;17081101;17081983;17086210;17132228;17183367;17220875;17332328;17353907;17416736;17483340;17497243;17625570;17785452;17924679;18093314;18097461;18206966;18220336;18452557;18593892;18594010;18662542;18669648;18691976;18701132;18724359;18775313;18776931;18805092;18826954;18851830;18923523;18923524;18923525;18926707;19028597;19250909;19321346;19352404;19452197;19456272;19459784;19489725;19617556;19690332;19748355;19851334;19874575;19940261;20068230;20068231;20454865;21134980;21164297;21213368;21406692;21415216;21447816;21463634;21494621;21596819;21656749;21778237;21838707;21847362;21863050;21940857;22249260;22306028;22327622;22347464;22466964;22537386;22570254;2261476;22658521;22959436;23104988;23139213;23186163;23201271;23201355;23239810;23333871;23401859;23453757;23481700;23535662;23535663;23563313;23583660;23661334;23912815;23957430;23986495;24060861;24076655;24275569;24366543;24366607;24445538;24475247;24496003;24518094;24613930;24636985;24736082;24793695;24793696;25314029;25342631;25349211;25355947;25393796;25421750;25531226;25576301;25813404;25892735;25921060;26001147;26062823;26154972;26301689;26344709;26460955;26632597;26906416;26992070;27030794;27222660;27245569;27452731;27565346;27573755;27846572;27874193;27920218;28115426;28228285;28404650;28510447;28657654;28659337;28741662;28832583;28855257;28904123;29153394;29237092;29242379;29351928;29455642;29557506;29632046;29632711;29769354;29786170;29873274;30059200;30131584;30315122;30379171;30524438;30610225;30620550;30692217;30833945;31154438;31217245;31366041;31373491;31492838;31637018;31844290;31848261;32005965;32157095;32284348;32387766;32574038;32897882;32938616;33141586;33214551;33444648;33465208;33537174;33592498;33717175;33912179;33936100;33968037;34019948;34171305;34357683;34846842;35051231;35132862;35254053;35289036;35513511;35561310;35580925;36010968;36241641;36284347;36580660;37340703;37541260;37762205;38253038;38665916;38742566;38918827;38994754;39302247;39531497;39534244;40307207;40596516;41518202;7824924;8633037;9380723;9668046;9790970;9819383;9826547;9887101;9891082", "class_list": "", "function": "Exosome-transmitted circular RNA circ-LMO7 facilitates the progression of osteosarcoma by regulating miR-21-5p/ARHGAP24 axis., [RefSeq, PubMed]; Immunoreactivity of LMO7 and other molecular markers as potential prognostic factors in oropharyngeal squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Novel Long Non-Coding RNA (lncRNA) Transcript AL137782.1 Promotes the Migration of Normal Lung Epithelial Cells through Positively Regulating LMO7. Publication Status: Online-Only, [RefSeq, PubMed]; Role of LMO7 in cancer (Review). Review article, [RefSeq, PubMed]; This gene encodes a protein containing a calponin homology (CH) domain, a PDZ domain, and a LIM domain, and may be involved in protein-protein interactions. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene, however, the full-length nature of some variants is not known. [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": 1, "reported_o_glycosites_with_glycan": 42, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 42, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 42, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 44, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 43, "binding_glycan_count": 0, "secondary_ac_list": "E9PLH4;O15462;O95346;Q5TBK6;Q9UKC1;Q9UQM5;Q9Y6A7", "ec_number_list": "", "go_molecular_function": "GO:0046872 metal ion binding;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0030155 regulation of cell adhesion;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0016567 protein ubiquitination;GO:0023051 regulation of signaling;GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 37.0, "record_id": "Q8WWI1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IXI1-1", "uniprot_id": "MIRO2_HUMAN", "mass": 68118.0, "length": 618, "protein_name": "Mitochondrial Rho GTPase 2", "gene_name": "RHOT2", "organism": "Human", "refseq_name": "mitochondrial Rho GTPase 2 isoform 2", "refseq_ac": "NP_620124", "gene_names_uniprotkb": "RHOT2; ARHT2; C16orf39", "gene_names_refseq": "ARHT2; C16orf39; MIRO-2; MIRO2; RASL; RHOT2", "protein_names_uniprotkb": "Mitochondrial Rho GTPase 2; 3.6.5.-; MIRO-2; Ras homolog gene family member T2; hMiro-2", "protein_names_refseq": "mitochondrial Rho (MIRO) GTPase 2; mitochondrial Rho GTPase 2 isoform 2; mitochondrial Rho GTPase 2; ras homolog gene family, member T2", "tax_id": 9606, "disease": "neurodegenerative disease (Disease Ontology:DOID:1289); Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:89941); (R-HSA-9013419)", "pathway_count": 2, "publication_count": 80, "publication_id_list": "11237011;12482879;14521508;15218247;16630562;19528298;22396657;22869377;23481700;24366607;24715725;24995978;25418920;25576301;25645385;25880248;26154972;26375851;26768311;26811146;26992070;27452731;27600516;27605430;27846572;27862975;27920218;28228285;28832583;28834231;28904123;29242379;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29694881;29786170;29789417;30111583;30192525;30315122;30429286;30513825;31479585;31844290;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32938616;32948353;32983136;33123756;33132189;33141586;33298915;33592498;33691108;33912179;33936100;33968037;33981976;34357683;34561969;34932366;34992146;35051231;35251023;35318648;35580925;36241641;36284347;40914422", "class_list": "", "function": "Atypical mitochondrial nucleoside-triphosphatase (NTPase) involved in mitochondrial trafficking (PubMed:16630562, PubMed:22396657, PubMed:30513825). Probably involved in control of anterograde transport of mitochondria and their subcellular distribution (PubMed:22396657). Can hydrolyze GTP (By similarity). Can hydrolyze ATP and UTP (PubMed:30513825)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; Atypical mitochondrial nucleoside-triphosphatase (NTPase) involved in mitochondrial trafficking. Probably involved in control of anterograde transport of mitochondria and their subcellular distribution. Can hydrolyze GTP, ATP and UTP., [UniProtKB, UniProtKB]; Insight into human Miro1/2 domain organization based on the structure of its N-terminal GTPase., [RefSeq, PubMed]; MIRO2 Regulates Prostate Cancer Cell Growth via GCN1-Dependent Stress Signaling., [RefSeq, PubMed]; Moreover, we show that Miro interacts with the Kinesin-binding proteins, GRIF-1 and OIP106, suggesting that the Miro GTPases form a link between the mitochondria and the trafficking apparatus of the microtubules., [RefSeq, PubMed]; The role of RHOT1 and RHOT2 genetic variation on Parkinson disease risk and onset., [RefSeq, PubMed]; This gene encodes a member of the Rho family of GTPases. The encoded protein is localized to the outer mitochondrial membrane and plays a role in mitochondrial trafficking and fusion-fission dynamics. [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": 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": "A2IDC2;Q8NF53;Q96C13;Q96S17;Q9BT60;Q9H7M8", "ec_number_list": "3.6.5.-;5.6.2.4;3.6.5.2;3.6.1.-;3.6.4.-;3.6.4.13;3.6.5.3;3.6.5.5;3.6.4.6;3.6.1.5;2.7.7.7;2.7.7.49;3.6.4.10;3.1.3.1;3.9.1.1;4.2.99.18;5.6.1.6;5.6.2.3;3.6.4.12;3.4.21.53;5.6.2.5;3.1.-.-;3.6.5.4;7.6.2.1;2.3.2.27;7.2.2.-;5.6.2.-;2.7.11.1;2.3.2.-;3.6.-.-;3.6.1.15;3.1.4.-;3.4.24.-;3.1.13.1;5.6.2.6;3.4.-.-;3.6.1.6;3.6.1.42;2.7.4.3", "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0016887 ATP hydrolysis activity;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0016020 membrane", "go_biological_process": "GO:0047497 mitochondrion transport along microtubule;GO:0019725 cellular homeostasis;GO:0007005 mitochondrion organization;GO:0097345 mitochondrial outer membrane permeabilization;GO:0007264 small GTPase-mediated signal transduction", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "Q8IXI1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P33527-1", "uniprot_id": "MRP1_HUMAN", "mass": 171591.0, "length": 1531, "protein_name": "Multidrug resistance-associated protein 1", "gene_name": "ABCC1", "organism": "Human", "refseq_name": "multidrug resistance-associated protein 1 isoform 1", "refseq_ac": "NP_004987", "gene_names_uniprotkb": "ABCC1; MRP1; MRP", "gene_names_refseq": "ABC29; ABCC1; ABCC; DFNA77; GS-X; MRP1; MRP", "protein_names_uniprotkb": "Multidrug resistance-associated protein 1; 7.6.2.2; 7.6.2.3; ATP-binding cassette sub-family C member 1; Glutathione-S-conjugate-translocating ATPase ABCC1; LTC4 transporter; Leukotriene C(4) transporter", "protein_names_refseq": "ATP-binding cassette transporter variant ABCC1delta-ex13&14; ATP-binding cassette transporter variant ABCC1delta-ex25&26; ATP-binding cassette, sub-family C (CFTR/MRP), member 1; LTC4 transporter; glutathione S-conjugate export pump; glutathione-S-conjugate-translocating ATPase ABCC1; leukotriene C(4) transporter; multidrug resistance-associated protein 1 isoform 1; multidrug resistance-associated protein 1", "tax_id": 9606, "disease": "autosomal dominant nonsyndromic deafness 77 (Disease Ontology:DOID:0112168); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083)", "pathway": " (hsa:4363); (R-HSA-1660661); (R-HSA-189483); (R-HSA-2142691); (R-HSA-382556); (R-HSA-9707564); (R-HSA-9753281); (R-HSA-9758890); (R-HSA-9818032)", "pathway_count": 9, "publication_count": 360, "publication_id_list": "10.1101/2023.09.13.557529;10064732;10421658;10484077;10620517;10644574;10665657;10722674;10741631;10748049;10751414;10779545;10802064;10811882;10835642;10947957;11023036;11114332;11134001;11139250;11237011;11266082;11278596;11278867;11397817;11469806;11504826;11562789;1157293;11714888;11721885;11812794;11844797;11937514;12379217;12379510;12403779;12473676;12604685;12969439;1352877;1356264;1359686;1359745;1360704;1377674;14528014;14661924;14685229;14685263;14975760;14976195;15001581;15063729;15175422;15208328;15245331;15260484;15328338;15337768;15472518;15604543;15652495;15863492;15899824;16100120;16118219;16230346;16537422;16568091;16571669;16696573;16697012;16793762;16795963;16816140;16895911;16901789;17023427;17050692;17081983;17264172;17331073;17355976;17449912;17523162;17591919;17627974;17855752;17894550;17924658;17977821;17982138;18088596;18165232;18165233;18184802;18184806;18232020;18282684;18357469;18434309;1848634;18578522;18647347;18691976;18767875;18779389;18987736;19002207;19005213;19136951;19233134;19413330;19416851;19447222;19463;19506037;19570978;19651622;19664994;1968359;19690164;19690332;19743890;19842618;19862647;19968714;1998343;20061445;20068231;20110355;20182505;20190787;20436887;20524213;20532504;20583968;20621639;20682644;20929863;21406692;21447318;21511966;21620961;21666065;21712391;21736601;22178883;22232210;22349737;22406294;22427940;22517924;22547309;22695718;22823425;22922874;22970244;23063411;23076889;23180825;23186163;23481700;23580527;23602659;23667609;23682772;23754960;23836931;23846701;24019521;24569996;24616531;24685677;24715725;2475911;24782409;25133187;25349122;25418920;25502872;25576301;25645385;2570070;2573352;25788259;25880248;26049587;26067475;26208431;26375851;26811146;26992070;27046942;27297967;27411955;27452731;27456980;2753893;27600516;2768222;2777761;27846572;27920218;28063628;28112439;28132103;28218747;28228285;2836406;28467828;28514659;28575652;2864155;2866075;28698372;2877850;2882965;28832583;28834231;28855257;28904123;2898143;29133059;29242379;29314611;29393594;29437277;29493099;29508533;29557506;29563527;29632046;29632711;29752257;29786170;2995393;3006030;30192525;3020588;30315122;30410026;30484775;30524438;30669;3118366;31217245;31273342;3164719;31771235;31844290;31895563;32157095;32350084;32357974;32387766;32472168;32488085;32502341;32897882;32938616;32981041;32983136;33141586;33298915;33592498;33691108;33717175;33845046;33912179;33936100;3395122;33968037;33981976;34078123;34087483;34171305;3427020;34357683;34433824;34509645;34561969;3457471;3472246;34725712;3475708;34932366;35051231;35154160;35251023;35318648;35409383;35561310;35580925;3563417;36010968;36070769;36215666;36241641;36284347;36581221;36902339;36907437;37224812;37390971;37658050;3782074;37838788;37938771;38057687;38253038;38484722;38665916;39302247;3933675;4001945;4339164;4817756;4980931;6094553;6122208;6293969;6490615;6950087;70646;7372607;7469630;7523390;7529176;7553863;7553864;759210;7768901;7865904;7937884;7961706;8052639;8098549;8394361;8576264;8706697;8710919;8813074;9024171;9080;915005;9188692;9281595;9295302;9312549;9334225;9344662;9363775;9426231;9461497;9485377;9652413;9816258;9831708", "class_list": "", "function": "Mediates export of organic anions and drugs from the cytoplasm (PubMed:10064732, PubMed:11114332, PubMed:16230346, PubMed:7961706, PubMed:9281595). Mediates ATP-dependent transport of glutathione and glutathione conjugates, leukotriene C4, estradiol-17-beta-o-glucuronide, methotrexate, antiviral drugs and other xenobiotics (PubMed:10064732, PubMed:11114332, PubMed:16230346, PubMed:7961706, PubMed:9281595). Confers resistance to anticancer drugs by decreasing accumulation of drug in cells, and by mediating ATP- and GSH-dependent drug export (PubMed:9281595). Hydrolyzes ATP with low efficiency (PubMed:16230346). Catalyzes the export of sphingosine 1-phosphate from mast cells independently of their degranulation (PubMed:17050692). Participates in inflammatory response by allowing export of leukotriene C4 from leukotriene C4-synthesizing cells (By similarity). Mediates ATP-dependent, GSH-independent cyclic GMP-AMP (cGAMP) export (PubMed:36070769). Thus, by limiting intracellular cGAMP concentrations negatively regulates the cGAS-STING pathway (PubMed:36070769). Exports S-geranylgeranyl-glutathione (GGG) in lymphoid cells and stromal compartments of lymphoid organs. ABCC1 (via extracellular transport) with GGT5 (via GGG catabolism) 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 the bone marrow parenchyma (By similarity). Mediates basolateral export of GSH-conjugated R- and S-prostaglandin A2 diastereomers in polarized epithelial cells (PubMed:9426231)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Overexpression of multidrug resistance-associated protein 1 protects against cardiotoxicity by augmenting the doxorubicin efflux from cardiomyocytes., [RefSeq, PubMed]; Restoring microRNA-34a overcomes acquired drug resistance and disease progression in human breast cancer cell lines via suppressing the ABCC1 gene., [RefSeq, PubMed]; The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra-and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a multispecific organic anion transporter, with oxidized glutatione, cysteinyl leukotrienes, and activated aflatoxin B1 as substrates. This protein also transports glucuronides and sulfate conjugates of steroid hormones and bile salts. Alternatively spliced variants of this gene have been described but their full-length nature is unknown. [provided by RefSeq, Apr 2012]., [RefSeq]; The role and impact of alternative polyadenylation and miRNA regulation on the expression of the multidrug resistance-associated protein 1 (MRP-1/ABCC1) in epithelial ovarian cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Tumor-associated macrophages confer colorectal cancer 5-fluorouracil resistance by promoting MRP1 membrane translocation via an intercellular CXCL17/CXCL22-CCR4-ATF6-GRP78 axis. 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": 5, "mined_n_glycosites": 4, "mined_o_glycosites": 1, "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": 4, "total_reported_o_glycosites": 1, "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": 13, "reported_mutagensis": 31, "reported_glycation": 0, "reported_snv": 52, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A3RJX2;C9JPJ4;O14819;O43333;P78419;Q59GI9;Q9UQ97;Q9UQ99;Q9UQA0", "ec_number_list": "7.6.2.2;7.6.2.-;7.6.2.3;5.6.1.6;2.3.1.48;2.3.1.-", "go_molecular_function": "GO:0042910 xenobiotic transmembrane transporter activity;GO:0005524 ATP binding;GO:0034040 ATPase-coupled lipid transmembrane transporter activity;GO:0042626 ATPase-coupled transmembrane transporter activity;GO:0008559 ABC-type xenobiotic transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0030054 cell junction;GO:0070062 extracellular exosome", "go_biological_process": "GO:0055085 transmembrane transport;GO:1904646 cellular response to amyloid-beta;GO:0030148 sphingolipid biosynthetic process;GO:0006805 xenobiotic metabolic process;GO:0045332 phospholipid translocation", "synthesized_glycan_count": 0, "hit_score": 36.8, "record_id": "P33527-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N5Y2-1", "uniprot_id": "MS3L1_HUMAN", "mass": 59824.0, "length": 521, "protein_name": "MSL complex subunit 3", "gene_name": "MSL3", "organism": "Human", "refseq_name": "MSL complex subunit 3 isoform e", "refseq_ac": "NP_001180199", "gene_names_uniprotkb": "MSL3; MSL3L1", "gene_names_refseq": "MRSXBA; MRXS36; MRXSBA; MSL3L1; MSL3", "protein_names_uniprotkb": "MSL complex subunit 3; MSL3-like 1; Male-specific lethal 3 homolog; Male-specific lethal-3 homolog 1; Male-specific lethal-3 protein-like 1", "protein_names_refseq": "MSL complex subunit 3 isoform e; MSL3-like 1; male-specific lethal 3 homolog; male-specific lethal-3 protein-like 1", "tax_id": 9606, "disease": "Basilicata-Akhtar syndrome (Disease Ontology:DOID:0111838)", "pathway": " (hsa:10943); (R-HSA-3214847)", "pathway_count": 2, "publication_count": 69, "publication_id_list": "10395802;10786633;10821277;11237011;15302935;15313887;16227571;16387653;16543150;18381289;18623064;18669648;19007248;19187765;19413330;19690332;20018852;20058876;20068231;20657587;20943666;21217699;21406692;22547026;23186163;23481700;24714562;25576301;25892735;26375851;26728094;27600516;27846572;28228285;28446606;28514659;28832583;28904123;29242379;29493099;29508533;29557506;29632711;29769354;30224647;30315122;31154438;31530632;31844290;31848261;31998317;32157095;32161166;32502341;32938616;32983136;33091337;33173220;33592498;33717175;33837287;33912179;33968037;35051231;35580925;37938771;9427644;9558366;9880483", "class_list": "", "function": "A multisubunit human histone acetylase complex that contains homologs of the Drosophila MSL proteins MOF, MSL1 (hampin A), MSL2, and MSL3 was described. This complex is responsible for histone H4 lysine-16 acetylation of all cellular chromosomes. Erratum:[Mol Cell Biol. 2006 Jan;26(1):387], [RefSeq, PubMed]; Characterization of syndrome that allowed us to decipher the developmental importance of MSL3 in humans., [RefSeq, PubMed]; Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder., [RefSeq, PubMed]; Non-catalytic component of the MSL histone acetyltransferase complex, a multiprotein complex that mediates the majority of histone H4 acetylation at 'Lys-16' (H4K16ac), an epigenetic mark that prevents chromatin compaction (PubMed:16227571, PubMed:16543150, PubMed:20018852, PubMed:20657587, PubMed:20943666, PubMed:21217699, PubMed:30224647, PubMed:33837287). The MSL complex is required for chromosome stability and genome integrity by maintaining homeostatic levels of H4K16ac (PubMed:33837287). The MSL complex is also involved in gene dosage by promoting up-regulation of genes expressed by the X chromosome (By similarity). X up-regulation is required to compensate for autosomal biallelic expression (By similarity). The MSL complex also participates in gene dosage compensation by promoting expression of Tsix non-coding RNA (By similarity). Acts as a histone reader that specifically recognizes and binds histone H4 monomethylated at 'Lys-20' (H4K20Me1) in a DNA-dependent manner and is proposed to be involved in chromosomal targeting of the MSL complex (PubMed:20657587, PubMed:20943666). May play a role X inactivation in females (PubMed:21217699)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a nuclear protein that is similar to the product of the Drosophila male-specific lethal-3 gene. The Drosophila protein plays a critical role in a dosage-compensation pathway, which equalizes X-linked gene expression in males and females. Thus, the human protein is thought to play a similar function in chromatin remodeling and transcriptional regulation, and it has been found as part of a complex that is responsible for histone H4 lysine-16 acetylation. This gene can undergo X inactivation. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2, 7 and 8. [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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 5, "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": "A6NCU2;A6NHW8;A8K165;B4DUV8;B7Z227;Q9UG70;Q9Y5Z8", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0140566 histone reader activity;GO:0140046 histone H4K16ac reader activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0035267 NuA4 histone acetyltransferase complex;GO:0072487 MSL complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription;GO:0006325 chromatin organization", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "Q8N5Y2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7RTP6-1", "uniprot_id": "MICA3_HUMAN", "mass": 224295.0, "length": 2002, "protein_name": "[F-actin]-monooxygenase MICAL3", "gene_name": "MICAL3", "organism": "Human", "refseq_name": "[F-actin]-monooxygenase MICAL3 isoform 3", "refseq_ac": "NP_001116203", "gene_names_uniprotkb": "MICAL3; KIAA0819; KIAA1364", "gene_names_refseq": "MICAL-3; MICAL3", "protein_names_uniprotkb": "[F-actin]-monooxygenase MICAL3; 1.14.13.225; MICAL-3; Molecule interacting with CasL protein 3", "protein_names_refseq": "[F-actin]-methionine sulfoxide oxidase MICAL3; [F-actin]-monooxygenase MICAL3 isoform 3; [F-actin]-monooxygenase MICAL3; flavoprotein oxidoreductase MICAL3; molecule interacting with CasL protein 3; protein MICAL-3; protein-methionine sulfoxide oxidase MICAL3", "tax_id": 9606, "disease": "", "pathway": " (hsa:57553)", "pathway_count": 1, "publication_count": 71, "publication_id_list": "11237011;12110185;15694364;17081983;18477386;18669648;19690332;20068231;21406692;21596566;22385522;23186163;23481700;24275569;24366607;24440334;24715725;25403488;25418920;25576301;25645385;26154972;26485645;26929215;26992070;27528609;27552051;27600516;27846572;27869121;27920218;28218747;28649982;28657654;28832583;28834231;28904123;29437277;29493099;29557506;29632046;29632711;29786170;30192525;30315122;30379171;30429286;30587593;30626607;30779550;31154438;31217245;31530632;31637018;31844290;31998317;32157095;32161166;32357974;32488085;32938616;32983136;33298915;33592498;33633747;33912179;33968037;34171305;35051231;35580925;39894887", "class_list": "", "function": "A novel link wherein placenta growth factor-mediated downregulation of paired box protein 5 attenuates miR-648 expression leading to increased endothelin-1 levels that are known to induce Pulmonary hypertension in sickle cell anemia, [RefSeq, PubMed]; Data do not support our hypothesis that the association between rs2277831 and primary osteoarthriti is due to the effect this SNP has on MICAL3, BCL2L13 or BID gene expression Publication Status: Online-Only, [RefSeq, PubMed]; Further exploration of the NINL-associated interactome identifies MICAL3, a protein known to interact with Rab8 and to play an important role in vesicle docking and fusion. Publication Status: Online-Only, [RefSeq, PubMed]; MICAL3 acts as a midbody-associated scaffold for vesicle targeting, which promotes maturation of the intercellular bridge and abscission., [RefSeq, PubMed]; Monooxygenase that promotes depolymerization of F-actin by mediating oxidation of specific methionine residues on actin to form methionine-sulfoxide, resulting in actin filament disassembly and preventing repolymerization. In the absence of actin, it also functions as a NADPH oxidase producing H(2)O(2). Seems to act as Rab effector protein and plays a role in vesicle trafficking. Involved in exocytic vesicles tethering and fusion: the monooxygenase activity is required for this process and implicates RAB8A associated with exocytotic vesicles. Required for cytokinesis. Contributes to stabilization and/or maturation of the intercellular bridge independently of its monooxygenase activity. Promotes recruitment of Rab8 and ERC1 to the intercellular bridge, and together these proteins are proposed to function in timely abscission., [UniProtKB, PubMed, PubMed]; The monooxygenase activity of MICAL3 is required to regulate its own turnover and the concomitant remodeling of vesicle-docking protein complexes., [RefSeq, PubMed]; The niche factor Sema3-stimulated NP1/MICAL3/CRMP2/Numb axis appears to expand Cancer stem-like cells (CSCs) at least partly through increased frequency of MICAL3-mediated symmetric division of CSCs., [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": 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": 2, "reported_glycation": 0, "reported_snv": 46, "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": "B2RXJ5;E9PEF0;O94909;Q5U4P4;Q6ICK4;Q96DF2;Q9P2I3", "ec_number_list": "1.14.13.225;1.6.3.1", "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:0060090 molecular adaptor activity;GO:0003779 actin binding;GO:0046872 metal ion binding;GO:0071949 FAD binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005819 spindle;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0051301 cell division;GO:0030036 actin cytoskeleton organization;GO:0007010 cytoskeleton organization;GO:0006887 exocytosis;GO:0030042 actin filament depolymerization", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q7RTP6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13613-1", "uniprot_id": "MTMR1_HUMAN", "mass": 74678.0, "length": 665, "protein_name": "Phosphatidylinositol-3-phosphate phosphatase MTMR1", "gene_name": "MTMR1", "organism": "Human", "refseq_name": "phosphatidylinositol-3-phosphate phosphatase MTMR1 isoform 2", "refseq_ac": "NP_003819", "gene_names_uniprotkb": "MTMR1", "gene_names_refseq": "MTMR1", "protein_names_uniprotkb": "Phosphatidylinositol-3-phosphate phosphatase MTMR1; 3.1.3.-; 3.1.3.95; Myotubularin-related protein 1; Phosphatidylinositol-3,5-bisphosphate 3-phosphatase", "protein_names_refseq": "phosphatidylinositol-3,5-bisphosphate 3-phosphatase; phosphatidylinositol-3-phosphate phosphatase MTMR1 isoform 2; phosphatidylinositol-3-phosphate phosphatase MTMR1; phosphatidylinositol-3-phosphate phosphatase", "tax_id": 9606, "disease": "Charcot-Marie-Tooth disease type 4B1 (Disease Ontology:DOID:0110191); centronuclear myopathy X-linked (Disease Ontology:DOID:0111225); Charcot-Marie-Tooth disease (Disease Ontology:DOID:10595); myopathy (Disease Ontology:DOID:423)", "pathway": " (hsa:8776); (R-HSA-1660499); (R-HSA-9035034)", "pathway_count": 3, "publication_count": 150, "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;16777452;16914545;16979564;17008356;17245604;17651088;17765681;18093523;18669648;18753295;19038970;19651622;19896968;20233848;20534812;20685272;21119010;21204784;22037487;22223895;22647598;23096567;23186163;23481700;23519112;23758345;25418920;25495341;25505266;25576301;25668492;25892735;26154972;26811146;26992070;27018598;27278019;27481945;27920218;28218747;28228285;28514659;28832583;28904123;29242379;29331515;29351928;29393594;29437277;29557506;29632046;29632711;29786170;30059200;30315122;30379171;30410026;31217245;31492838;31844290;31871319;32157095;32357974;32387766;32488085;32502341;32897882;32983136;33141586;33298915;33691108;33912179;33936100;33968037;34171305;34185709;34561969;34932366;35051231;35318648;35561310;35580925;36010968;36241641;36284347;39534244;7608176;7624799;8640223;8681945;8723348;8769125;9094719;9113989;9211928;9286278;9295334;9367159;9428629;9514948;9516481;9524259;9593664;9660759;9660833;9736772;9811831;9828128;9830063", "class_list": "", "function": "An aberrant MTMR1 expression and signs of altered myofiber maturation were documented in both DM1 and in DM2 muscle tissues., [RefSeq, PubMed]; Lipid phosphatase that specifically dephosphorylates the D-3 position of phosphatidylinositol 3-phosphate, generating phosphatidylinositol (PubMed:11733541, PubMed:27018598). Could also dephosphorylate phosphatidylinositol 3,5-bisphosphate to produce phosphatidylinositol 5-phosphate (PubMed:27018598)., [UniProtKB, PubMed, PubMed]; This gene encodes a member of the myotubularin related family of proteins. Members of this family contain the consensus sequence for the active site of protein tyrosine phosphatases. Alternatively spliced variants 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": 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": 4, "reported_glycation": 0, "reported_snv": 11, "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": "A0A024RC07;Q9UBX6;Q9UEM0;Q9UQD5", "ec_number_list": "3.1.3.-;3.1.3.95;3.1.3.36;3.1.3.64;3.6.5.2;3.6.4.-;1.16.1.-;3.4.22.-;3.1.3.67;3.1.3.86", "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0004438 phosphatidylinositol-3-phosphate phosphatase activity;GO:0052629 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0060304 regulation of phosphatidylinositol dephosphorylation;GO:0006661 phosphatidylinositol biosynthetic process;GO:0031648 protein destabilization;GO:0046856 phosphatidylinositol dephosphorylation", "synthesized_glycan_count": 0, "hit_score": 15.6, "record_id": "Q13613-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96DN6-1", "uniprot_id": "MBD6_HUMAN", "mass": 101201.0, "length": 1003, "protein_name": "Methyl-CpG-binding domain protein 6", "gene_name": "MBD6", "organism": "Human", "refseq_name": "methyl-CpG-binding domain protein 6", "refseq_ac": "NP_443129", "gene_names_uniprotkb": "MBD6; KIAA1887", "gene_names_refseq": "MBD6", "protein_names_uniprotkb": "Methyl-CpG-binding domain protein 6; Methyl-CpG-binding protein MBD6", "protein_names_refseq": "methyl-CpG-binding domain protein 6; methyl-CpG-binding protein MBD6", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041)", "pathway": " (hsa:114785); (R-HSA-5689603)", "pathway_count": 2, "publication_count": 37, "publication_id_list": "11237011;16906146;17139257;18497827;19188440;19815555;20436459;20700456;20805357;23052207;23055267;24634419;24715725;2530630;25638327;27600516;27744583;27846572;27920218;29557506;31313936;31844290;31848261;32157095;33298915;33592498;33936100;34019948;34087483;34357683;35051231;35254053;35494241;36010968;36180891;9528852;9790970", "class_list": "", "function": "Frameshift mutations of MBD6 gene is associated with stomach and colorectal cancers., [RefSeq, PubMed]; MBD5 and MBD6 are unlikely to be methyl-binding proteins, yet they may contribute to the formation or function of heterochromatin. Publication Status: Online-Only, [RefSeq, PubMed]; MBD6 is regulated by Ago2 via an interaction with Oct4, which alters self-renewal and gene expression in human adipose tissue-derived stem cells., [RefSeq, PubMed]; Non-catalytic component of the polycomb repressive deubiquitinase (PR-DUB) complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-120' (H2AK119ub1) (PubMed:24634419). Important for stability of PR-DUB components and stimulating its ubiquitinase activity (PubMed:36180891). As part of the PR-DUB complex, associates with chromatin enriched in histone marks H3K4me1, H3K4me3, and H3K27Ac, but not in H3K27me3 (PubMed:36180891). MBD5 and MBD6 containing complexes associate with distinct chromatin regions enriched in genes involved in different pathways (PubMed:36180891). Heterochromatin recruitment is not mediated by DNA methylation (PubMed:20700456). The PR-DUB complex is an epigenetic regulator of gene expression, including genes involved in development, cell communication, signaling, cell proliferation and cell viability; may promote cancer cell growth (PubMed:36180891)., [UniProtKB, PubMed, PubMed, PubMed]; Our findings imply that reduced stability and enhanced dynamics of MBD1 or MBD6 is the origin of ATP7B dysfunction in Wilson disease patients with the G85V or G591D mutation., [RefSeq, PubMed]; The decreased expression of the MBD6 protein was correlated with the tumor size of uterine leiomyomas, [RefSeq, PubMed]; This study demonstrates examples of autistic patients carrying alterations in MBD6., [RefSeq, PubMed]; We studied and showed that both MBD5 and MBD6 interact with the mammalian PR-DUB Polycomb protein complex in a mutually exclusive manner, and that the MBD of MBD5 and MBD6 is both necessary and sufficient to mediate this interaction., [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": 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": 28, "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": "Q8N3M0;Q8NA81;Q96Q00", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005694 chromosome;GO:0010369 chromocenter", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q96DN6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "C9JLW8-1", "uniprot_id": "MCRI1_HUMAN", "mass": 10920.0, "length": 97, "protein_name": "Mapk-regulated corepressor-interacting protein 1", "gene_name": "MCRIP1", "organism": "Human", "refseq_name": "mapk-regulated corepressor-interacting protein 1 isoform 2", "refseq_ac": "NP_001087236", "gene_names_uniprotkb": "MCRIP1; FAM195B; GRAN2", "gene_names_refseq": "FAM195B; GRAN2; MCRIP1; MCRIP", "protein_names_uniprotkb": "Mapk-regulated corepressor-interacting protein 1; Granulin-2; Protein FAM195B", "protein_names_refseq": "MAPK-regulated co-repressor interacting protein 1; family with sequence similarity 195, member B; granulin-2; mapk-regulated corepressor-interacting protein 1 isoform 2; mapk-regulated corepressor-interacting protein 1; protein FAM195B", "tax_id": 9606, "disease": "", "pathway": " (hsa:348262); (R-HSA-9764725)", "pathway_count": 2, "publication_count": 59, "publication_id_list": "10655587;11237011;11912130;12700765;15542832;17130829;18669648;19608861;19651622;20068231;20418909;20871592;21406692;21740066;22028470;22158034;22706990;23466526;23481700;24366607;25505266;25576301;25728771;25810538;26184334;26212009;26811146;26992070;27920218;28832583;28904123;29242379;29493099;29557506;29729076;30379171;30429286;30898548;31154438;31530632;31844290;32157095;32350084;32488085;32897882;33298915;33592498;33608512;33968037;34019948;34171305;35008676;35051231;35138000;35292107;35580925;35851744;37938771;39302247", "class_list": "", "function": "MCRIP1, an ERK substrate, mediates ERK-induced gene silencing during epithelial-mesenchymal transition by regulating the co-repressor CtBP., [RefSeq, PubMed]; The phosphorylation status of MCRIP1 functions as a molecular switch to regulate epithelial-mesenchymal transition. Unphosphorylated MCRIP1 binds to and inhibits the transcriptional corepressor CTBP(s). When phosphorylated by MAPK/ERK, MCRIP1 releases CTBP(s) resulting in transcriptional silencing of the E-cadherin gene and induction of epithelial-mesenchymal transition (PubMed:25728771)., [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": 12, "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": "Q6ZUL0", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0010494 cytoplasmic stress granule", "go_biological_process": "GO:0010717 regulation of epithelial to mesenchymal transition", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "C9JLW8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NX70-1", "uniprot_id": "MED29_HUMAN", "mass": 21073.0, "length": 200, "protein_name": "Mediator of RNA polymerase II transcription subunit 29", "gene_name": "MED29", "organism": "Human", "refseq_name": "mediator of RNA polymerase II transcription subunit 29 isoform 2", "refseq_ac": "NP_001304699", "gene_names_uniprotkb": "MED29; IXL", "gene_names_refseq": "IXL; MED29; MED2", "protein_names_uniprotkb": "Mediator of RNA polymerase II transcription subunit 29; Intersex-like protein; Mediator complex subunit 29", "protein_names_refseq": "intersex-like protein; mediator of RNA polymerase II transcription subunit 29 isoform 2; mediator of RNA polymerase II transcription subunit 29", "tax_id": 9606, "disease": "", "pathway": " (hsa:55588); (R-HSA-1989781); (R-HSA-381340); (R-HSA-9833110)", "pathway_count": 4, "publication_count": 74, "publication_id_list": "10075656;10425206;10777541;11095972;11237011;11267664;11607032;11872672;12118000;12177166;12213831;12505311;12582161;12829629;14576168;14638676;14976261;15067378;15130092;15175163;15273253;15555573;15635043;15850785;15919796;15989967;16380219;16972786;17011499;17980149;18420935;18540824;18719978;18848529;18931025;19043829;19088433;19115207;19172745;19710929;19934321;20101261;20110263;20410276;22090124;23239344;23301498;24196956;25854864;28832583;29242379;29557506;31844290;32938616;33298915;34019948;34509645;35051231;36102648;37217939;39462350;7685352;7892212;8325954;8643605;8647822;8706692;8770873;8970730;9012850;9065481;9454824;9748239;9836620", "class_list": "", "function": "A mammalian homolog of Drosophila melanogaster transcriptional coactivator intersex is a subunit of the mammalian Mediator complex GeneRIF: IXL is a subunit of the mammalian Mediator complex., [RefSeq, PubMed]; CHRDL1 inhibits OSCC metastasis via MAPK signaling-mediated inhibition of MED29. Publication Status: Online-Only, [RefSeq, PubMed]; 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, PubMed]; IXL is a subunit of the mammalian Mediator complex., [RefSeq, PubMed]; MED29 is a subunit of the Mediator complex, a multiprotein coactivator of RNA transcription that interacts with DNA-bound transcriptional activators, RNA polymerase II (see MIM 180660), and general initiation factors (Sato et al., 2003 [PubMed 14576168]).[supplied by OMIM, Aug 2009]., [RefSeq]; Overexpression of IXL in COS-7 cells inhibits the transcriptional activities of SRE and AP-1, suggesting that the IXL protein may act as a transcriptional suppressor in mitogen-activated protein kinase signaling pathway to mediate cellular functions., [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": "B4DNQ6;M0R2E4;Q5XX09;Q9NTF4", "ec_number_list": "", "go_molecular_function": "GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016592 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:0032968 positive regulation of transcription elongation by RNA polymerase II;GO:0051123 RNA polymerase II preinitiation complex assembly;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q9NX70-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NI32-1", "uniprot_id": "LPD6B_HUMAN", "mass": 20656.0, "length": 183, "protein_name": "Ly6/PLAUR domain-containing protein 6B", "gene_name": "LYPD6B", "organism": "Human", "refseq_name": "ly6/PLAUR domain-containing protein 6B isoform a", "refseq_ac": "NP_001303931", "gene_names_uniprotkb": "LYPD6B", "gene_names_refseq": "CT116; LYPD6B; LYPD7", "protein_names_uniprotkb": "Ly6/PLAUR domain-containing protein 6B", "protein_names_refseq": "cancer/testis antigen 116; ly6/PLAUR domain-containing protein 6B isoform a; ly6/PLAUR domain-containing protein 6B", "tax_id": 9606, "disease": "", "pathway": " (hsa:130576); (R-HSA-163125)", "pathway_count": 2, "publication_count": 15, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;11072085;11237011;18360792;23584533;24190977;2443973;25813380;26586467;28063628;32938616;33019770;3422494;34631692", "class_list": "", "function": "LYPD7 was especially highly expressed in testis, lung, stomach, and prostate., [RefSeq, PubMed]; Likely acts as a modulator of nicotinic acetylcholine receptors (nAChRs) activity (PubMed:26586467, PubMed:34631692). In vitro acts on nAChRs in a subtype- and stoichiometry-dependent manner (PubMed:26586467). Modulates specifically alpha-3(3):beta-4(2) nAChRs by enhancing the sensitivity to ACh, decreasing ACh-induced maximal current response and increasing the rate of desensitization to ACh; has no effect on alpha-7 homomeric nAChRs; modulates alpha-3(2):alpha-5:beta-4(2) nAChRs in the context of CHRNA5/alpha-5 variant Asn-398 but not its wild-type sequence (PubMed:26586467). However, according to another report in vitro it can weakly inhibits alpha-7 nAChRs (PubMed:34631692)., [UniProtKB, PubMed, PubMed]; Structural Diversity and Dynamics of Human Three-Finger Proteins Acting on Nicotinic Acetylcholine Receptors. 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": 0, "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": 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": 8, "binding_glycan_count": 0, "secondary_ac_list": "D3DP90;Q53TK0;Q7Z747;Q8IXK7", "ec_number_list": "", "go_molecular_function": "GO:0030548 acetylcholine receptor regulator activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0098552 side of membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q8NI32-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P202-1", "uniprot_id": "WHRN_HUMAN", "mass": 96558.0, "length": 907, "protein_name": "Whirlin", "gene_name": "WHRN", "organism": "Human", "refseq_name": "whirlin isoform 4 precursor", "refseq_ac": "NP_001333819", "gene_names_uniprotkb": "WHRN; DFNB31; KIAA1526", "gene_names_refseq": "CIP98; DFNB31; PDZD7B; USH2D; WHRN; WI", "protein_names_uniprotkb": "Whirlin; Autosomal recessive deafness type 31 protein", "protein_names_refseq": "CASK-interacting protein CIP98; autosomal recessive deafness type 31 protein; whirlin isoform 4 precursor", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness 31 (Disease Ontology:DOID:0110490); Usher syndrome type 2D (Disease Ontology:DOID:0110840); sensorineural hearing loss (Disease Ontology:DOID:10003)", "pathway": " (hsa:25861); (R-HSA-9662360); (R-HSA-9662361)", "pathway_count": 3, "publication_count": 39, "publication_id_list": "10025409;10821263;11163272;11237011;11973626;12641734;12833159;15841483;16434480;17171570;17584769;22117215;23023331;23186163;26811146;26992070;28514659;28834231;28904123;29242379;29393594;29632046;29632711;30429286;31492838;31844290;31848261;32161166;32265295;32357974;33298915;33392160;33539879;33626355;33912179;33968037;35051231;36010968;37924449", "class_list": "", "function": "Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31., [RefSeq, PubMed]; Folding and Misfolding of a PDZ Tandem Repeat., [RefSeq, PubMed]; Involved in hearing and vision as member of the USH2 complex. Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear. Involved in the maintenance of the hair bundle ankle region, which connects stereocilia in cochlear hair cells of the inner ear. In retina photoreceptors, required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport., [UniProtKB, UniProtKB]; Novel pathogenic WHRN variant causing hearing loss in a moroccan family., [RefSeq, PubMed]; Phase separation-mediated condensation of Whirlin-Myo15-Eps8 stereocilia tip complex., [RefSeq, PubMed]; This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]., [RefSeq]; This paper concludes that this protein plays a role in photoreceptor and hair cell synapse organization in the related rat gene., [RefSeq, PubMed]; This paper describes a PDZ domain protein and its role in synaptic transmission in the related rat gene., [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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 35, "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": "A0A0C4DFT9;A5PKU1;A5PKZ9;Q5TAU9;Q5TAV0;Q5TAV1;Q5TAV2;Q96MZ9;Q9H9F4;Q9UFZ3", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005884 actin filament;GO:0005886 plasma membrane;GO:0005929 cilium;GO:0030426 growth cone", "go_biological_process": "GO:0050910 detection of mechanical stimulus involved in sensory perception of sound;GO:0001895 retina homeostasis;GO:0045184 establishment of protein localization;GO:0007605 sensory perception of sound;GO:0021694 cerebellar Purkinje cell layer formation", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q9P202-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13614-1", "uniprot_id": "MTMR2_HUMAN", "mass": 73381.0, "length": 643, "protein_name": "Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2", "gene_name": "MTMR2", "organism": "Human", "refseq_name": "phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2 isoform 2", "refseq_ac": "NP_001230500", "gene_names_uniprotkb": "MTMR2; KIAA1073", "gene_names_refseq": "CMT4B1; CMT4B; MTMR2", "protein_names_uniprotkb": "Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2; 3.1.3.95; Myotubularin-related protein 2; Phosphatidylinositol-3-phosphate phosphatase", "protein_names_refseq": "phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2 isoform 2; phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2; phosphatidylinositol-3,5-bisphosphate 3-phosphatase; phosphatidylinositol-3-phosphatase; phosphatidylinositol-3-phosphate phosphatase; phosphoinositide-3-phosphatase", "tax_id": 9606, "disease": "Charcot-Marie-Tooth disease type 4B1 (Disease Ontology:DOID:0110191); centronuclear myopathy X-linked (Disease Ontology:DOID:0111225); Charcot-Marie-Tooth disease (Disease Ontology:DOID:10595); myopathy (Disease Ontology:DOID:423)", "pathway": " (hsa:8898); (R-HSA-1483248); (R-HSA-1660499); (R-HSA-1660516); (R-HSA-1660517)", "pathway_count": 5, "publication_count": 190, "publication_id_list": "10101268;10194451;10224048;10419465;10555148;10559940;10593988;10753883;10766823;10802647;10805725;10822173;11001876;11084340;11237011;11279162;11302699;11349134;11604140;11676921;11706043;11733541;11877430;11923287;12101241;12118066;12270933;12324459;12398840;12422219;12536145;12646134;12668758;12808147;12847086;12847286;12890864;14516276;14527956;14530412;14617813;14660569;14690594;14722070;15080793;15107860;15135396;15464023;15716355;15797027;15840652;15998640;16154996;16399794;16410353;16476736;16522682;1655747;16787938;16914545;16979564;17008356;17081983;17245604;17556371;17651088;18093523;18452278;18524850;18669648;18753295;18950639;19038970;19413330;19664995;19690332;19896968;20068231;20112406;20534812;21081650;21204784;21209280;21372139;22037487;22544926;22647598;23378027;23481700;23519112;23758345;23818870;25418920;25495341;25505266;25522275;25576301;25645385;25869668;25880248;26154972;26496610;26992070;27846572;27920218;28063628;28218747;28228285;28510447;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29632711;29769354;29786170;30315122;30410026;30484775;31154438;31217245;31530632;31537807;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32488727;32502341;32767332;32897882;32938616;32983136;33298915;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34405274;34509645;34561969;34718573;34932366;35051231;35318648;35561310;35580604;35580925;36010968;36215666;36241641;36284347;37907649;40307207;7608176;7624799;7628435;8640223;8681945;8723348;8769125;8999962;9094719;9113989;9148941;9211928;9286278;9295334;9367159;9428629;9514948;9516481;9524259;9593664;9660759;9660833;9736772;9811831;9830063", "class_list": "", "function": "An integrative analysis reveals the prognostic value and potential functions of MTMR2 in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Lipid phosphatase that specifically dephosphorylates the D-3 position of phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate, generating phosphatidylinositol and phosphatidylinositol 5-phosphate. Regulates the level of these phosphoinositides critical for various biological processes including autophagy initiation and autophagosome maturation., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; MTMR2 promotes the progression of NK/T cell lymphoma by targeting JAK1., [RefSeq, PubMed]; Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report., [RefSeq, PubMed]; This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [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": 5, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 15, "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": "A6NN98;Q9UPS9", "ec_number_list": "3.1.3.-;3.1.3.95;3.1.3.36;3.1.3.64;3.1.3.67;3.1.3.86", "go_molecular_function": "GO:0042802 identical protein binding;GO:0004438 phosphatidylinositol-3-phosphate phosphatase activity;GO:0052629 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0014069 postsynaptic density;GO:0016020 membrane", "go_biological_process": "GO:0045806 negative regulation of endocytosis;GO:0060304 regulation of phosphatidylinositol dephosphorylation;GO:0006661 phosphatidylinositol biosynthetic process;GO:0002091 negative regulation of receptor internalization;GO:0046856 phosphatidylinositol dephosphorylation", "synthesized_glycan_count": 0, "hit_score": 19.3, "record_id": "Q13614-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q71F56-1", "uniprot_id": "MD13L_HUMAN", "mass": 242602.0, "length": 2210, "protein_name": "Mediator of RNA polymerase II transcription subunit 13-like", "gene_name": "MED13L", "organism": "Human", "refseq_name": "mediator of RNA polymerase II transcription subunit 13-like isoform 1", "refseq_ac": "NP_056150", "gene_names_uniprotkb": "MED13L; KIAA1025; PROSIT240; THRAP2; TRAP240L", "gene_names_refseq": "MED13L; MRFACD; PROSIT240; THRAP2; TRAP240L", "protein_names_uniprotkb": "Mediator of RNA polymerase II transcription subunit 13-like; Mediator complex subunit 13-like; Thyroid hormone receptor-associated protein 2; Thyroid hormone receptor-associated protein complex 240 kDa component-like", "protein_names_refseq": "mediator complex subunit 13 like; mediator of RNA polymerase II transcription subunit 13-like isoform 1; mediator of RNA polymerase II transcription subunit 13-like; thyroid hormone receptor-associated protein 2; thyroid hormone receptor-associated protein complex 240 kDa component-like", "tax_id": 9606, "disease": "dextro-looped transposition of the great arteries (Disease Ontology:DOID:0060770); obesity (Disease Ontology:DOID:9970); cardiac anomalies - developmental delay - facial dysmorphism syndrome (MONDO:MONDO:0014773)", "pathway": " (hsa:23389); (R-HSA-1989781); (R-HSA-381340); (R-HSA-9833110)", "pathway_count": 4, "publication_count": 124, "publication_id_list": "10075656;10425206;10777541;11095972;11237011;11267664;11607032;11872672;12118000;12177166;12213831;12505311;12582161;12829629;14638541;14976261;15067378;15130092;15145061;15175163;15273253;15635043;15850785;15919796;15989967;16380219;16972786;17011499;17525332;17980149;18420935;18452278;18540824;18691976;18719978;18848529;18931025;19043829;19088433;19115207;19172745;19369195;19651622;19664994;19690332;19710929;19934321;20068231;20101261;20110263;20410276;22090124;23186163;23239344;23481700;24196956;24715725;24781760;25167861;25356899;25576301;25645385;25712080;25758992;25854864;25892735;26688548;26758079;26992070;27600516;28218747;28832583;29242379;29393594;29511999;29557506;29769354;30429286;30524438;31844290;32157095;32350084;32357974;32387766;32488085;32802198;32897882;32938616;32983136;33298915;33592498;33691108;33912179;33968037;33981976;34087483;34171305;34185709;34509645;35051231;35318648;35580925;36010968;36102648;36241641;36284347;37217939;37512036;37938771;38253038;39181712;7685352;7892212;8325954;8643605;8647822;8706692;8770873;8970730;9012850;9065481;9454824;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. This subunit may specifically regulate transcription of targets of the Wnt signaling pathway and SHH signaling pathway., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; MED13L integrates Mediator-regulated epigenetic control into lung cancer radiosensitivity. Publication Status: Online-Only, [RefSeq, PubMed]; Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting in MED13L Haploinsufficiency Syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; PROSIT240 shows significant homology to the nuclear receptor coactivator TRAP240, suggesting it to be a new component of the thyroid hormone receptor-associated protein (TRAP) complex. PROSIT240 is involved in early heart and brain development., [RefSeq, PubMed]; Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Study ascertains missense variations in MED13L as a cause for MED13L-related intellectual disability and improves the clinical delineation of the condition., [RefSeq, PubMed]; The protein encoded by this gene is a subunit of the Mediator complex, a large complex of proteins that functions as a transcriptional coactivator for most RNA polymerase II-transcribed genes. The encoded protein is involved in early development of the heart and brain. Defects in this gene are a cause of transposition of the great arteries, dextro-looped (DTGA).[provided by RefSeq, Jul 2010]., [RefSeq]; Transcripts were most abundant in skeletal muscle., [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": 21, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 52, "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": "A1L469;Q68DN4;Q9H8C0;Q9NSY9;Q9UFD8;Q9UPX5", "ec_number_list": "", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0016592 mediator complex;GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 12.7, "record_id": "Q71F56-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P55082-1", "uniprot_id": "MFAP3_HUMAN", "mass": 40165.0, "length": 362, "protein_name": "Microfibril-associated glycoprotein 3", "gene_name": "MFAP3", "organism": "Human", "refseq_name": "microfibril-associated glycoprotein 3 isoform 2", "refseq_ac": "NP_001128509", "gene_names_uniprotkb": "MFAP3", "gene_names_refseq": "MFAP3", "protein_names_uniprotkb": "Microfibril-associated glycoprotein 3", "protein_names_refseq": "microfibril-associated glycoprotein 3 isoform 2; microfibril-associated glycoprotein 3; microfibrillar associated protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:4238); (R-HSA-2129379)", "pathway_count": 2, "publication_count": 60, "publication_id_list": "10025398;10424889;10544250;10646116;10930463;11237011;11970960;12358597;12415008;12429738;1400330;14701737;1708799;17324935;18339631;19531498;21646718;23033978;24714562;25892735;26154972;26728094;26992070;27862975;28218747;28832583;28904123;29331515;29437277;29557506;29769354;29786170;30315122;30779550;31154438;31222486;31844290;31848261;31998317;32157095;32350084;32897882;32983136;33633747;33717175;33968037;34171305;34357683;34433824;35051231;35318648;35580925;36010968;36241641;36581221;37938771;7500359;7534784;7782085;9725916", "class_list": "", "function": "Component of the elastin-associated microfibrils., [UniProtKB]", "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": 10, "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": "B2RDK0;B4DKA1;Q9NXA7", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "P55082-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P086-1", "uniprot_id": "MED11_HUMAN", "mass": 13129.0, "length": 117, "protein_name": "Mediator of RNA polymerase II transcription subunit 11", "gene_name": "MED11", "organism": "Human", "refseq_name": "mediator of RNA polymerase II transcription subunit 11 isoform b", "refseq_ac": "NP_001291929", "gene_names_uniprotkb": "MED11; HSPC296", "gene_names_refseq": "HSPC296; MED11; NDDRSB", "protein_names_uniprotkb": "Mediator of RNA polymerase II transcription subunit 11; Mediator complex subunit 11", "protein_names_refseq": "mediator of RNA polymerase II transcription subunit 11 isoform b; mediator of RNA polymerase II transcription subunit 11; mediator of RNA polymerase II transcription, subunit 11 homolog", "tax_id": 9606, "disease": "neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities (MONDO:MONDO:0957225)", "pathway": " (hsa:400569); (R-HSA-1989781); (R-HSA-381340); (R-HSA-9833110)", "pathway_count": 4, "publication_count": 88, "publication_id_list": "10075656;10425206;10777541;11095972;11237011;11267664;11607032;11872672;12118000;12177166;12213831;12505311;12582161;12584197;12829629;14976261;15067378;15130092;15175163;15273253;15635043;15850785;15919796;15989967;16380219;16972786;17011499;17980149;18420935;18452278;18540824;18719978;18848529;18931025;19043829;19088433;19115207;19172745;19710929;19934321;20101261;20110263;20410276;22090124;23239344;23481700;24196956;25576301;25854864;27920218;28063628;28514659;28832583;29242379;29493099;29557506;29632046;30429286;30524438;31154438;31844290;32157095;32265295;32387766;32897882;32938616;32983136;33141586;33968037;34171305;34509645;35051231;35561310;36001086;36102648;7685352;7892212;8325954;8643605;8647822;8706692;8770873;8970730;9012850;9065481;9454824;9748239;9836620", "class_list": "", "function": "A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease., [RefSeq, PubMed]; 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 pre-initiation complex with RNA polymerase II and the general transcription factors., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; MED11 is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).[supplied by OMIM, 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": 1, "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": "Q6NS89", "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_biological_process": "GO:0060261 positive regulation of transcription initiation 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;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q9P086-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UHV7-1", "uniprot_id": "MED13_HUMAN", "mass": 239297.0, "length": 2174, "protein_name": "Mediator of RNA polymerase II transcription subunit 13", "gene_name": "MED13", "organism": "Human", "refseq_name": "mediator of RNA polymerase II transcription subunit 13", "refseq_ac": "NP_005112", "gene_names_uniprotkb": "MED13; ARC250; KIAA0593; THRAP1; TRAP240", "gene_names_refseq": "ARC250; DRIP250; HSPC221; MED13; MRD61; THRAP1; TRAP240", "protein_names_uniprotkb": "Mediator of RNA polymerase II transcription subunit 13; ARC250; Activator-recruited cofactor 250 kDa component; DRIP250; Mediator complex subunit 13; Thyroid hormone receptor-associated protein 1; Thyroid hormone receptor-associated protein complex 240 kDa component; Trap240; Vitamin D3 receptor-interacting protein complex component DRIP250", "protein_names_refseq": "activator-recruited cofactor 250 kDa component; mediator of RNA polymerase II transcription subunit 13; mediator of RNA polymerase II transcription, subunit 13 homolog; thyroid hormone receptor-associated protein 1; thyroid hormone receptor-associated protein complex 240 kDa component; thyroid hormone receptor-associated protein complex component TRAP240; thyroid hormone receptor-associated protein, 240 kDa subunit; vitamin D3 receptor-interacting protein complex component DRIP250", "tax_id": 9606, "disease": "autosomal dominant intellectual developmental disorder 61 (Disease Ontology:DOID:0061034); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:9969); (R-HSA-1989781); (R-HSA-212436); (R-HSA-381340); (R-HSA-9833110); (R-HSA-9841922)", "pathway_count": 6, "publication_count": 170, "publication_id_list": "10075656;10198638;10235266;10235267;10330177;10425206;10558993;10777541;10835357;10882139;11027271;11095972;11237011;11267664;11395415;11607032;11872672;12118000;12177166;12213831;12505311;12582161;12829629;1310260;14519192;14976261;15067378;15130092;15175151;15175163;15273253;15302935;15635043;15850785;15896744;15919796;15989967;16380219;16595664;16606702;16719718;16972786;17011499;17081983;17761950;17980149;18420935;18452278;18540824;18669648;18691976;18719978;18848529;18931025;19043829;19088433;19115207;19172745;19710929;19934321;20068231;20101261;20110263;20410276;2163759;22090124;22424782;23186163;23239344;23481700;24196956;24275569;24397554;25576301;25645385;25854864;25880248;25892735;26154972;26992070;27600516;27862975;28218747;28514659;28832583;28855257;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29740699;29769354;29786170;30315122;30379171;30429286;30779550;30833945;31154438;31217245;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32488085;32938616;32983136;33141586;33214551;33258286;33298915;33329381;33390853;33444446;33592498;33633747;33717175;33912179;33968037;33981976;34019948;34087483;34171305;34509645;34725712;34932366;35051231;35251023;35318648;35561310;35580925;36010968;36102648;36215666;36241641;36284347;36543134;36581221;37938771;38253038;38665916;38838015;40596516;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, PubMed]; Could the MED13 mutations manifest as a Kabuki-like syndrome?, [RefSeq, PubMed]; De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder., [RefSeq, PubMed]; MED13 and glycolysis are conserved modifiers of alpha-synuclein-associated neurodegeneration., [RefSeq, PubMed]; Potential roles of mediator Complex Subunit 13 in Cardiac Diseases. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. The product of this gene is proposed to form a sub-complex with MED12, cyclin C, and CDK8 that can negatively regulate transactivation by mediator. [provided by RefSeq, Jul 2008]., [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": 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": 24, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 55, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "B2RU05;O60334", "ec_number_list": "", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0046966 nuclear thyroid hormone receptor binding;GO:0003712 transcription coregulator activity;GO:0042809 nuclear vitamin D receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016020 membrane;GO:0016592 mediator complex", "go_biological_process": "GO:0060261 positive regulation of transcription initiation by RNA polymerase II;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0042632 cholesterol homeostasis", "synthesized_glycan_count": 0, "hit_score": 17.8, "record_id": "Q9UHV7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H944-1", "uniprot_id": "MED20_HUMAN", "mass": 23222.0, "length": 212, "protein_name": "Mediator of RNA polymerase II transcription subunit 20", "gene_name": "MED20", "organism": "Human", "refseq_name": "mediator of RNA polymerase II transcription subunit 20 isoform 3", "refseq_ac": "NP_001292386", "gene_names_uniprotkb": "MED20; TRFP", "gene_names_refseq": "MED20; PRO0213; SRB2; TRFP", "protein_names_uniprotkb": "Mediator of RNA polymerase II transcription subunit 20; Mediator complex subunit 20; TRF-proximal protein homolog; hTRFP", "protein_names_refseq": "Trf (TATA binding protein-related factor)-proximal homolog; mediator of RNA polymerase II transcription subunit 20 isoform 3; mediator of RNA polymerase II transcription subunit 20", "tax_id": 9606, "disease": "", "pathway": " (hsa:9477); (R-HSA-1989781); (R-HSA-212436); (R-HSA-381340); (R-HSA-9833110); (R-HSA-9841922)", "pathway_count": 6, "publication_count": 122, "publication_id_list": "10075656;10235266;10330177;10425206;10558993;10777541;10835357;10882139;11027271;11095972;11237011;11267664;11395415;11607032;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;18719978;18848529;18931025;19043829;19088433;19115207;19172745;19710929;19934321;20101261;20110263;20410276;2163759;22090124;23239344;24196956;24397554;25418920;25576301;25854864;26992070;27600516;27846572;27862975;28218747;28510447;28832583;28834231;28904123;28947101;29242379;29437277;29557506;30429286;31154438;31530632;31844290;31848261;31998317;32157095;32161166;32357974;32488085;32897882;32983136;33329381;33592498;33691108;34019948;34171305;34185709;35051231;35318648;35580925;36010968;36102648;7685352;7892212;8183939;8325954;8521497;8521498;8643605;8647822;8706692;8769649;8770873;8970730;9012850;9065481;9171241;9454824;9637681;9653119;9744270;9748239;9836620;9933582", "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]; Our analyses revealed no apparent differences in protein expression profiles of SRBs in central and peripheral regions of human donor tissues, indicating that carotenoid-binding proteins rather than transporters are likely to mediate selective accumulation of carotenoids into the macula., [RefSeq, PubMed]; This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. A mutation in this gene has been associated with a novel infantile-onset neurodegenerative movement disorder. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 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": 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": "B4DE08;O95821;Q5T8J4;Q9Y429", "ec_number_list": "", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0003899 DNA-directed RNA polymerase activity;GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016592 mediator complex", "go_biological_process": "GO:0060261 positive regulation of transcription initiation by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006366 transcription by RNA polymerase II;GO:0032968 positive regulation of transcription elongation by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 12.5, "record_id": "Q9H944-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UGP4-1", "uniprot_id": "LIMD1_HUMAN", "mass": 72190.0, "length": 676, "protein_name": "LIM domain-containing protein 1", "gene_name": "LIMD1", "organism": "Human", "refseq_name": "LIM domain-containing protein 1", "refseq_ac": "NP_055055", "gene_names_uniprotkb": "LIMD1", "gene_names_refseq": "LIMD1", "protein_names_uniprotkb": "LIM domain-containing protein 1", "protein_names_refseq": "LIM domain-containing protein 1; LIM domains containing 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:8994); (R-HSA-1234176)", "pathway_count": 2, "publication_count": 91, "publication_id_list": "10535940;10647888;10823831;10878807;10944113;10973499;11024059;11237011;11292861;11292862;11352561;11358837;11454738;11504942;11598268;12101228;12351678;12538644;12615973;12788921;12821933;12912907;15144186;15247232;15474027;15542589;15652751;15870274;15987702;16738327;17182618;17434750;18184961;18212344;18331720;18337469;18439753;18669648;18712738;18767875;19208626;19413330;19651622;19690332;20068231;20166139;20303269;20616046;21335549;21834987;22286099;23186163;23301498;24275569;28218747;28683311;28832583;29437277;29485866;30059200;30321376;30600590;31373491;31492838;31844290;32157095;32161166;32350084;32938616;32938750;33869018;33891898;33912179;33968037;33981976;34087483;35051231;35132862;35251023;35254053;35513511;36284347;36581221;37340703;38665916;39302247;39382421;39531497;40136647;9122164;9891082", "class_list": "", "function": "Adapter or scaffold protein which participates in the assembly of numerous protein complexes and is involved in several cellular processes such as cell fate determination, cytoskeletal organization, repression of gene transcription, cell-cell adhesion, cell differentiation, proliferation and migration. Positively regulates microRNA (miRNA)-mediated gene silencing and is essential for P-body formation and integrity. Acts as a hypoxic regulator by bridging an association between the prolyl hydroxylases and VHL enabling efficient degradation of HIF1A. Acts as a transcriptional corepressor for SNAI1- and SNAI2/SLUG-dependent repression of E-cadherin transcription. Negatively regulates the Hippo signaling pathway and antagonizes phosphorylation of YAP1. Inhibits E2F-mediated transcription, and suppresses the expression of the majority of genes with E2F1-responsive elements. Regulates osteoblast development, function, differentiation and stress osteoclastogenesis. Enhances the ability of TRAF6 to activate adapter protein complex 1 (AP-1) and negatively regulates the canonical Wnt receptor signaling pathway in osteoblasts. May act as a tumor suppressor by inhibiting cell proliferation., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Clinical implications of activation of the LIMD1-VHL-HIF1alpha pathway during head-&-neck squamous cell carcinoma development., [RefSeq, PubMed]; Findings suggest that LIMD1 is a key regulator of mitotic progression, and that dysregulation of LIMD1 contributes to tumorigenesis, [RefSeq, PubMed]; Kaposi's sarcoma-associated herpesvirus SOX binds to LIMD1 and shows RNA substrate selectivity, [RefSeq, PubMed]; LIMD1 phase separation contributes to cellular mechanics and durotaxis by regulating focal adhesion dynamics in response to force., [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": 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": 16, "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": 11, "binding_glycan_count": 0, "secondary_ac_list": "Q17RQ1;Q9BQQ9;Q9NQ47", "ec_number_list": "", "go_molecular_function": "GO:0046872 metal ion binding;GO:0003714 transcription corepressor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005912 adherens junction", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0090090 negative regulation of canonical Wnt signaling pathway;GO:0001666 response to hypoxia;GO:0006355 regulation of DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "Q9UGP4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O15440-1", "uniprot_id": "MRP5_HUMAN", "mass": 160660.0, "length": 1437, "protein_name": "ATP-binding cassette sub-family C member 5", "gene_name": "ABCC5", "organism": "Human", "refseq_name": "ATP-binding cassette sub-family C member 5 isoform 2", "refseq_ac": "NP_001018881", "gene_names_uniprotkb": "ABCC5; MRP5", "gene_names_refseq": "ABC33; ABCC5; EST277145; MOAT-C; MOATC; MRP5; SMRP; pABC11", "protein_names_uniprotkb": "ATP-binding cassette sub-family C member 5; 7.6.2.-; 7.6.2.2; MOAT-C; Multi-specific organic anion transporter C; Multidrug resistance-associated protein 5; SMRP; pABC11", "protein_names_refseq": "ATP-binding cassette sub-family C member 5 isoform 2; ATP-binding cassette, sub-family C (CFTR/MRP), member 5; canalicular multispecific organic anion transporter C; multi-specific organic anion transporter C; multidrug resistance-associated protein 5", "tax_id": 9606, "disease": "cystic fibrosis (Disease Ontology:DOID:1485); pancreatic cancer (Disease Ontology:DOID:1793)", "pathway": " (hsa:10057); (R-HSA-2142845); (R-HSA-382556); (R-HSA-9748787); (R-HSA-9753281)", "pathway_count": 5, "publication_count": 189, "publication_id_list": "10037799;10438534;10484077;10665657;10721709;10741631;10748049;10840050;10893247;11237011;11504826;11562789;11714888;11812794;12379217;12379510;12403779;12435799;12473676;12604685;12637526;12695538;12697733;1352877;1356264;1359686;1377674;1426053;14661924;15175422;15208308;15472518;15501592;15747503;15850391;15863492;15899824;15899835;16530731;16696573;16717136;16816140;16901789;1703543;17081983;17145755;17229149;17301077;17521428;17523162;17540771;17627974;17855752;17894550;17924658;17977821;17996297;18232020;18282684;18357469;18434309;18434317;18512783;18669648;19002207;19447222;19463;19570978;19651622;1968359;197968;19842618;19862647;1998343;20068231;20190787;20216118;20583968;20621639;211390;21666065;21712391;21723252;22178883;22349737;22406294;22444596;22544926;23063411;23096567;23186163;23682772;23816837;24019521;24190977;24366607;24685677;2475911;24824603;24836561;24847057;24974183;25133187;25576301;25645385;2570070;2573352;25964343;26049587;26067475;26208431;26238318;26515061;26992070;27846572;28132103;28218747;28228285;28832583;28904123;2898143;29242379;29393594;29437277;29482072;29557506;30987408;31154438;31844290;32157095;32161166;32350084;32387766;32472168;32488085;32938616;32981041;33298915;33392160;33592498;33912179;3395122;33968037;34185709;34271023;34357683;34494510;34509645;3457471;3472246;34768109;35051231;35141332;35251023;35494241;36010968;37938771;38253038;38844452;5767308;657528;6950087;6989049;70646;7469630;7523390;7529176;7553863;7553864;7865904;8226881;8670112;8798477;8798544;8813074;8890751;9024171;9080;9083017;9099726;9132023;9270026;9325169;942489;9601098;9652413;9816258;9827529;9831708", "class_list": "", "function": "ABCC5 facilitates the acquired resistance of sorafenib through the inhibition of SLC7A11-induced ferroptosis in hepatocellular carcinoma., [RefSeq, PubMed]; ATP-dependent transporter of the ATP-binding cassette (ABC) family that actively extrudes physiological compounds, and xenobiotics from cells. Mediates ATP-dependent transport of endogenous metabolites such as cAMP and cGMP, folic acid and N-lactoyl-amino acids (in vitro) (PubMed:10893247, PubMed:12637526, PubMed:12695538, PubMed:15899835, PubMed:17229149, PubMed:25964343). Also acts as a general glutamate conjugate and analog transporter that can limit the brain levels of endogenous metabolites, drugs, and toxins (PubMed:26515061). Confers resistance to the antiviral agent PMEA (PubMed:12695538). Able to transport several anticancer drugs including methotrexate, and nucleotide analogs in vitro, however it does with low affinity, thus the exact role of ABCC5 in mediating resistance still needs to be elucidated (PubMed:10840050, PubMed:12435799, PubMed:12695538, PubMed:15899835). Acts as a heme transporter required for the translocation of cytosolic heme to the secretory pathway (PubMed:24836561). May play a role in energy metabolism by regulating the glucagon-like peptide 1 (GLP-1) secretion from enteroendocrine cells (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; FOXM1 Promotes Drug Resistance in Cervical Cancer Cells by Regulating ABCC5 Gene Transcription. Publication Status: Online-Only, [RefSeq, PubMed]; Inhibition and transport mechanisms of the ABC transporter hMRP5. Publication Status: Online-Only, [RefSeq, PubMed]; Inhibition of ABCC5-mediated cGMP transport by progesterone, testosterone and their analogues., [RefSeq, PubMed]; Pan-cancer analysis and single-cell analysis revealed the role of ABCC5 transporter in hepatocellular carcinoma., [RefSeq, PubMed]; The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions in the cellular export of its substrate, cyclic nucleotides. This export contributes to the degradation of phosphodiesterases and possibly an elimination pathway for cyclic nucleotides. Studies show that this protein provides resistance to thiopurine anticancer drugs, 6-mercatopurine and thioguanine, and the anti-HIV drug 9-(2-phosphonylmethoxyethyl)adenine. This protein may be involved in resistance to thiopurines in acute lymphoblastic leukemia and antiretroviral nucleoside analogs in HIV-infected patients. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]., [RefSeq]", "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": 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": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 44, "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": "B9EIQ2;O14517;Q29ZA9;Q29ZB1;Q86UX3;Q86W30;Q9UN85;Q9UNP5;Q9UQC3", "ec_number_list": "7.6.2.2;7.6.2.-;7.6.2.3;5.6.1.6", "go_molecular_function": "GO:0042910 xenobiotic transmembrane transporter activity;GO:0005524 ATP binding;GO:0022857 transmembrane transporter activity;GO:0042626 ATPase-coupled transmembrane transporter activity;GO:0008559 ABC-type xenobiotic transporter activity", "go_cellular_component": "GO:0005796 Golgi lumen;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0055085 transmembrane transport;GO:0006805 xenobiotic metabolic process;GO:0015865 purine nucleotide transport;GO:0006855 xenobiotic transmembrane transport;GO:0098838 folate transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 19.4, "record_id": "O15440-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z3K6-1", "uniprot_id": "MIER3_HUMAN", "mass": 61437.0, "length": 550, "protein_name": "Mesoderm induction early response protein 3", "gene_name": "MIER3", "organism": "Human", "refseq_name": "mesoderm induction early response protein 3 isoform 1", "refseq_ac": "NP_001284527", "gene_names_uniprotkb": "MIER3", "gene_names_refseq": "MIER3", "protein_names_uniprotkb": "Mesoderm induction early response protein 3; Mi-er3", "protein_names_refseq": "mesoderm induction early response 1, family member 3; mesoderm induction early response protein 3 isoform 1; mesoderm induction early response protein 3; mi-er3", "tax_id": 9606, "disease": "breast cancer (Disease Ontology:DOID:1612); invasive ductal carcinoma (Disease Ontology:DOID:3008); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910)", "pathway": " (hsa:166968)", "pathway_count": 1, "publication_count": 45, "publication_id_list": "11237011;18669648;19690332;20068231;21406692;22993404;23186163;25576301;25645385;25892735;26992070;27862975;28046085;28218747;28228285;28832583;28887525;29437277;29493099;29508533;29557506;29632711;29769354;29786170;29789417;30410026;30429286;31844290;32157095;32387766;32488085;32502341;32938616;32983136;33298915;33912179;33968037;33981976;34171305;34242623;35318648;35580925;36241641;36284347;38253038", "class_list": "", "function": "Data suggest that the human 5q11.2 breast cancer risk allele marked by rs889312 is mammary gland autonomous, and MIER3 is a candidate breast cancer susceptibility gene., [RefSeq, PubMed]; Histone deacetylase assays confirmed that MIER2, but not MIER3 complexes, have associated deacetylase activity. Publication Status: Online-Only, [RefSeq, PubMed]; MIER3 induces epithelial-mesenchymal transition and promotes breast cancer cell aggressiveness via forming a co-repressor complex with HDAC1/HDAC2/Snail., [RefSeq, PubMed]; Our data suggested that MIER3 plays a potential tumor suppressor role in CRC progression and may be a potentially valuable clinical prognostic marker of this disease. Publication Status: Online-Only, [RefSeq, PubMed]; Transcriptional repressor., [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": 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": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B4DRI9;B8ZZQ0;Q5CZI0;Q68CS3;Q6MZS7;Q86YG8;Q8NA13", "ec_number_list": "", "go_molecular_function": "GO:0003714 transcription corepressor activity;GO:0042826 histone deacetylase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0032991 protein-containing complex", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q7Z3K6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q2TAK8-1", "uniprot_id": "PWP3A_HUMAN", "mass": 78636.0, "length": 710, "protein_name": "PWWP domain-containing DNA repair factor 3A", "gene_name": "PWWP3A", "organism": "Human", "refseq_name": "PWWP domain-containing DNA repair factor 3A isoform b", "refseq_ac": "NP_001356718", "gene_names_uniprotkb": "PWWP3A; EXPAND1; MUM1", "gene_names_refseq": "EXPAND1; HSPC211; MUM-1; MUM1; PWWP3A", "protein_names_uniprotkb": "PWWP domain-containing DNA repair factor 3A; MUM-1; Mutated melanoma-associated antigen 1; PWWP domain-containing protein MUM1; PWWP3A; Protein expandere", "protein_names_refseq": "PWWP domain-containing DNA repair factor 3A isoform b; PWWP domain-containing DNA repair factor 3A; PWWP domain-containing protein MUM1; melanoma associated antigen (mutated) 1; melanoma ubiquitous mutated protein; mutated melanoma-associated antigen 1; protein expandere", "tax_id": 9606, "disease": "", "pathway": " (hsa:84939)", "pathway_count": 1, "publication_count": 51, "publication_id_list": "11237011;20347427;21720545;23481700;24715725;25505266;25576301;25645385;25892735;26154972;26375851;27600516;27862975;27920218;28228285;28832583;28904123;29242379;29508533;29557506;29769354;29786170;30315122;30379171;30524438;30779550;31154438;31217245;31530632;31844290;31848261;32157095;32357974;32387766;32897882;32938616;33141586;33298915;33392160;33592498;33912179;33936100;33968037;33981976;34211107;34509645;35051231;35251023;36010968;36284347;7644523", "class_list": "", "function": "Involved in the DNA damage response pathway by contributing to the maintenance of chromatin architecture. Recruited to the vicinity of DNA breaks by TP53BP1 and plays an accessory role to facilitate damage-induced chromatin changes and promoting chromatin relaxation. Required for efficient DNA repair and cell survival following DNA damage., [UniProtKB, PubMed]; Report the identification of the PWWP domain-containing protein EXPAND1/MUM1 as an architectural component of the chromatin, which in response to DNA damage serves as an accessory factor to promote cell survival., [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": "A1L489;B5ME02;B7ZLY8;J3KQD6;Q13109;Q5XKB9;Q8N2I4;Q96A67", "ec_number_list": "", "go_molecular_function": "GO:0031491 nucleosome binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006281 DNA repair;GO:0006325 chromatin organization", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q2TAK8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96DT7-1", "uniprot_id": "ZBT10_HUMAN", "mass": 94894.0, "length": 871, "protein_name": "Zinc finger and BTB domain-containing protein 10", "gene_name": "ZBTB10", "organism": "Human", "refseq_name": "zinc finger and BTB domain-containing protein 10 isoform a", "refseq_ac": "NP_001099009", "gene_names_uniprotkb": "ZBTB10; RINZFC; RINZF", "gene_names_refseq": "RINZF; ZBTB10", "protein_names_uniprotkb": "Zinc finger and BTB domain-containing protein 10; Zinc finger protein RIN ZF", "protein_names_refseq": "zinc finger and BTB domain-containing protein 10 isoform a; zinc finger and BTB domain-containing protein 10; zinc finger protein RIN ZF; zinc finger protein RINZF", "tax_id": 9606, "disease": "", "pathway": " (hsa:65986)", "pathway_count": 1, "publication_count": 40, "publication_id_list": "17525332;18669648;20382698;21406692;23254909;24129315;25218447;25576301;25645385;25755297;25772364;26375851;26992070;28832583;28834231;29242379;29557506;29632046;29632711;29786170;30429286;31154438;31844290;31848261;32157095;32161166;32502341;32897882;32938616;32983136;33912179;33981976;34171305;34509645;35051231;35306527;35580925;35608340;36657642;37834257", "class_list": "", "function": "Collectively, these results indicated that stimulation of ovarian cancer cell VEGF, Cox2 and survivin expression by FSH involves the microRNA27a: ZBTB10-specificity protein pathway., [RefSeq, PubMed]; Intermittent Hypoxia Promotes TAM-Induced Glycolysis in Laryngeal Cancer Cells via Regulation of HK1 Expression through Activation of ZBTB10. Publication Status: Online-Only, [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB]; MiR-361-5p promotes proliferation and inhibits apoptosis of fibroblast-like synoviocytes via targeting ZBTB10 in rheumatoid arthritis., [RefSeq, PubMed]; Pyruvate kinase L/R links metabolism dysfunction to neuroendocrine differentiation of prostate cancer by ZBTB10 deficiency. Publication Status: Online-Only, [RefSeq, PubMed]; Structural insights into the recognition of telomeric variant repeat TTGGGG by broad-complex, tramtrack and bric-a-brac - zinc finger protein ZBTB10., [RefSeq, PubMed]; Study show that miR-27a indirectly regulates E2-responsiveness in MCF-7 cells through suppression of ZBTB10, thereby enhancing expression of ERalpha., [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": 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": "A4FVD0;Q86W96;Q8IXI9;Q96MH9", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042162 telomeric DNA 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:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000781 chromosome, telomeric region", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q96DT7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TDZ2-1", "uniprot_id": "MICA1_HUMAN", "mass": 117875.0, "length": 1067, "protein_name": "[F-actin]-monooxygenase MICAL1", "gene_name": "MICAL1", "organism": "Human", "refseq_name": "[F-actin]-monooxygenase MICAL1 isoform 2", "refseq_ac": "NP_001152763", "gene_names_uniprotkb": "MICAL1; MICAL; NICAL", "gene_names_refseq": "MICAL-1; MICAL1; MICAL; NICAL", "protein_names_uniprotkb": "[F-actin]-monooxygenase MICAL1; 1.14.13.225; 1.6.3.1; MICAL-1; Molecule interacting with CasL protein 1; NEDD9-interacting protein with calponin homology and LIM domains", "protein_names_refseq": "NEDD9-interacting protein with calponin homology and LIM domains; [F-actin]-methionine sulfoxide oxidase MICAL1; [F-actin]-monooxygenase MICAL1 isoform 2; [F-actin]-monooxygenase MICAL1; molecule interacting with CasL protein 1; protein-methionine sulfoxide oxidase MICAL1", "tax_id": 9606, "disease": "", "pathway": " (hsa:64780); (R-HSA-983231)", "pathway_count": 2, "publication_count": 93, "publication_id_list": "11042108;11062261;11214971;11237011;11242053;11744692;11751636;11827972;11895428;11950885;12032298;12110185;12134158;12427746;12788069;15020713;15247287;15694364;15710388;16054028;1630448;16959974;17027967;17043746;17081983;17196961;17662518;18077418;18305261;18452278;19293402;19690332;20530532;20627800;21406692;21864500;218813;23186163;23481700;24440334;25576301;25645385;26845023;27552051;27600516;28230050;28904123;29343822;29351928;29393594;29493099;29557506;29632046;30524438;30905672;31844290;32157095;32344433;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33043033;33298915;33717175;33912179;3409321;34171305;34509645;34561969;34932366;35051231;35154160;35251023;35379354;35580925;36010968;36241641;36284347;36575439;36581221;38508474;8662638;8816476;9065479;9230307;9326583;9331217;9422515;9927674", "class_list": "", "function": "A CasL interacting molecule that associates with vimentin, [RefSeq, PubMed]; High MICAL1 expression correlates with cancer progression and immune infiltration in renal clear cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; MICAL-1 isoforms with their multidomain structure are novel rab1 interacting proteins that function as scaffold proteins connecting different components in the cell., [RefSeq, PubMed]; Mical modulates Tau toxicity via cysteine oxidation in vivo. Erratum:[Acta Neuropathol Commun. 2022 Apr 25;10(1):63. doi: 10.1186/s40478-022-01369-w. PMID: 35468811] Publication Status: Online-Only, [RefSeq, PubMed]; Monooxygenase that promotes depolymerization of F-actin by mediating oxidation of specific methionine residues on actin to form methionine-sulfoxide, resulting in actin filament disassembly and preventing repolymerization (PubMed:29343822). In the absence of actin, it also functions as a NADPH oxidase producing H(2)O(2) (PubMed:21864500, PubMed:26845023, PubMed:29343822). Acts as a cytoskeletal regulator that connects NEDD9 to intermediate filaments. Also acts as a negative regulator of apoptosis via its interaction with STK38 and STK38L; acts by antagonizing STK38 and STK38L activation by MST1/STK4. Involved in regulation of lamina-specific connectivity in the nervous system such as the development of lamina-restricted hippocampal connections. Through redox regulation of the actin cytoskeleton controls the intracellular distribution of secretory vesicles containing L1/neurofascin/NgCAM family proteins in neurons, thereby regulating their cell surface levels (By similarity). May act as Rab effector protein and play a role in vesicle trafficking. Promotes endosomal tubule extension by associating with RAB8 (RAB8A or RAB8B), RAB10 and GRAF (GRAF1/ARHGAP26 or GRAF2/ARHGAP10) on the endosomal membrane which may connect GRAFs to Rabs, thereby participating in neosynthesized Rab8-Rab10-Rab11-dependent protein export (PubMed:32344433)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; PlexinA1 promotes gastric cancer migration through preventing MICAL1 protein ubiquitin/proteasome-mediated degradation in a Rac1-dependent manner., [RefSeq, PubMed]; This gene encodes an enzyme that oxidizes methionine residues on actin, thereby promoting depolymerization of actin filaments. This protein interacts with and regulates signalling by NEDD9/CAS-L (neural precursor cell expressed, developmentally down-regulated 9). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 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": 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": 2, "reported_glycation": 0, "reported_snv": 27, "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": "B7Z3R5;E1P5F0;Q7Z633;Q8IVS9;Q96G47;Q9H6X6;Q9H7I0;Q9HAA1;Q9UFF7", "ec_number_list": "1.14.13.225;1.14.13.-;1.6.3.1;1.14.13.8;1.-.-.-;1.6.99.1;1.11.1.-", "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:0003779 actin binding;GO:0017124 SH3 domain binding;GO:0019901 protein kinase binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0015629 actin cytoskeleton;GO:0005882 intermediate filament", "go_biological_process": "GO:0007165 signal transduction;GO:0043066 negative regulation of apoptotic process;GO:0051017 actin filament bundle assembly;GO:0007010 cytoskeleton organization;GO:1903305 regulation of regulated secretory pathway", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "Q8TDZ2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75439-1", "uniprot_id": "MPPB_HUMAN", "mass": 54366.0, "length": 489, "protein_name": "Mitochondrial-processing peptidase subunit beta", "gene_name": "PMPCB", "organism": "Human", "refseq_name": "mitochondrial-processing peptidase subunit beta isoform 1 precursor", "refseq_ac": "NP_004270", "gene_names_uniprotkb": "PMPCB; MPPB", "gene_names_refseq": "Beta-MPP; MAS1; MPP11; MPPB; MPPP52; P-52; PMPCB", "protein_names_uniprotkb": "Mitochondrial-processing peptidase subunit beta; 3.4.24.64; Beta-MPP; P-52", "protein_names_refseq": "mitochondrial processing peptidase beta subunit; mitochondrial-processing peptidase subunit beta isoform 1 precursor; mitochondrial-processing peptidase subunit beta; peptidase (mitochondrial processing) beta; peptidase, mitochondrial processing beta subunit", "tax_id": 9606, "disease": "late onset Parkinson's disease (Disease Ontology:DOID:0060892); multiple mitochondrial dysfunctions syndrome 6 (Disease Ontology:DOID:0070332)", "pathway": " (hsa:9512); (R-HSA-1268020); (R-HSA-8949664)", "pathway_count": 3, "publication_count": 70, "publication_id_list": "11237011;14726512;15254020;15644312;15683237;16185709;16849325;17510655;18174896;18678864;19409522;19453276;19580345;19767391;19892738;19962426;20593814;21750375;22354088;23041349;23597483;23811401;24903103;25315652;25576301;25880248;25892735;26697887;27642048;27737933;28218747;28228285;28510447;28832583;28904123;29242379;29351928;29576218;29632046;29769354;30315122;30379171;30410026;30484775;30779550;31217245;31337603;31844290;32157095;32161166;32357974;32387766;32870666;32938616;33298915;33465208;33691108;33912179;33968037;34087483;34229054;34357683;34509645;35051231;36241641;36580660;38665916;40596516;40914422;9653160", "class_list": "", "function": "Biallelic mutations in PMPCB cause defects in MPP proteolytic activity leading to dysregulation of iron-sulfur cluster biogenesis and triggering a complex neurological phenotype of neurodegeneration in early childhood., [RefSeq, PubMed]; Catalytic subunit of the essential mitochondrial processing protease (MPP), which cleaves the mitochondrial sequence off newly imported precursors proteins (Probable) (PubMed:29576218). Preferentially, cleaves after an arginine at position P2 (By similarity). Required for PINK1 turnover by coupling PINK1 mitochondrial import and cleavage, which results in subsequent PINK1 proteolysis (PubMed:22354088)., [UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Maintained expression and even up-regulation of some (PNPT1, PMPCB, HMMR/RHAMM, BSG and ERCC1) tumor associated antigens in CD40-activated leukemic cells., [RefSeq, PubMed]; OxLDL triggers retrograde translocation of arginase2 in aortic endothelial cells via ROCK and mitochondrial processing peptidase., [RefSeq, PubMed]; Silencing PMPCB increased hepatocellular carcinoma (HCC) susceptibility to sorafenib, decreased tumor burden, and improved survival. These results suggest contributory role of the PMPCB in sorafenib resistance., [RefSeq, PubMed]; This gene is a member of the peptidase M16 family and encodes a protein with a zinc-binding motif. This protein is located in the mitochondrial matrix and catalyzes the cleavage of the leader peptides of precursor proteins newly imported into the mitochondria, though it only functions as part of a heterodimeric complex. [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": 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": 3, "binding_glycan_count": 0, "secondary_ac_list": "O60416;Q96FV4", "ec_number_list": "3.4.24.64;2.1.3.3;7.1.2.2;5.6.1.7;3.6.4.10;1.16.3.1;1.1.98.-;2.5.1.39;3.4.24.-;3.6.-.-", "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0046872 metal ion binding;GO:0009003 signal peptidase activity;GO:0008237 metallopeptidase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0017087 mitochondrial processing peptidase complex", "go_biological_process": "GO:0016485 protein processing;GO:0006851 mitochondrial calcium ion transmembrane transport;GO:0006627 protein processing involved in protein targeting to mitochondrion;GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "O75439-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HBW1-1", "uniprot_id": "LRRC4_HUMAN", "mass": 72717.0, "length": 653, "protein_name": "Leucine-rich repeat-containing protein 4", "gene_name": "LRRC4", "organism": "Human", "refseq_name": "leucine-rich repeat-containing protein 4 precursor", "refseq_ac": "NP_071426", "gene_names_uniprotkb": "LRRC4; BAG; NAG14; PRO1111", "gene_names_refseq": "LRRC4; NAG14; NGL-2", "protein_names_uniprotkb": "Leucine-rich repeat-containing protein 4; Brain tumor-associated protein BAG; NGL-2; Nasopharyngeal carcinoma-associated gene 14 protein; Netrin-G2 ligand", "protein_names_refseq": "brain tumor associated protein LRRC4; brain tumor-associated protein BAG; leucine-rich repeat-containing protein 4 precursor; leucine-rich repeat-containing protein 4; nasopharyngeal carcinoma-associated gene 14 protein; netrin-G ligand-2; netrin-G2 ligand", "tax_id": 9606, "disease": "", "pathway": " (hsa:64101)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;12975309;15967442;16959974;21946559;25505266;27884160;29741879;30790560;32372061;32938616;35051231;36780420", "class_list": "", "function": "Following EGF stimuli, the D domain of LRRC4 anchors ERK1/2 in the cytoplasm and abrogates ERK1/2 activation and nuclear translocation. Publication Status: Online-Only, [RefSeq, PubMed]; High LRRC4 expression is associated with Liposarcoma ., [RefSeq, PubMed]; LRRC4 may play an important role in maintaining normal function and suppressing tumorigenesis in the central nervous system., [RefSeq, PubMed]; Leucine-rich repeat containing 4 act as an autophagy inhibitor that restores sensitivity of glioblastoma to temozolomide., [RefSeq, PubMed]; Leucine-rich repeats containing 4 protein (LRRC4) in memory, psychoneurosis, and glioblastoma. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Synaptic adhesion protein. Regulates the formation of exitatory synapses through the recruitment of pre-and-postsynaptic proteins. Organize the lamina/pathway-specific differentiation of dendrites. Plays an important role for auditory synaptic responses. Involved in the suppression of glioma (By similarity)., [UniProtKB]", "predicted_glycosites": 8, "predicted_n_glycosites": 8, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 51, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "A4D0Y9;Q14DU9;Q6ZMI8;Q96A85", "ec_number_list": "", "go_molecular_function": "GO:0098632 cell-cell adhesion mediator activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0043197 dendritic spine;GO:0060076 excitatory synapse", "go_biological_process": "GO:1904861 excitatory synapse assembly;GO:0050804 modulation of chemical synaptic transmission;GO:0099560 synaptic membrane adhesion;GO:0097119 postsynaptic density protein 95 clustering", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q9HBW1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6P2C8-1", "uniprot_id": "MED27_HUMAN", "mass": 35432.0, "length": 311, "protein_name": "Mediator of RNA polymerase II transcription subunit 27", "gene_name": "MED27", "organism": "Human", "refseq_name": "mediator of RNA polymerase II transcription subunit 27 isoform 2", "refseq_ac": "NP_001240810", "gene_names_uniprotkb": "MED27; CRSP34; CRSP8", "gene_names_refseq": "CRAP34; CRSP34; CRSP8; MED27; MED3; NEDSCAC; TRAP37", "protein_names_uniprotkb": "Mediator of RNA polymerase II transcription subunit 27; CRSP complex subunit 8; Cofactor required for Sp1 transcriptional activation subunit 8; Mediator complex subunit 27; P37 TRAP/SMCC/PC2 subunit; Transcriptional coactivator CRSP34", "protein_names_refseq": "CRSP complex subunit 8; cofactor required for Sp1 transcriptional activation, subunit 8, 34kDa; epididymis secretory sperm binding protein; mediator of RNA polymerase II transcription subunit 27 isoform 2; mediator of RNA polymerase II transcription subunit 27; p37 TRAP/SMCC/PC2 subunit; transcriptional coactivator CRSP34", "tax_id": 9606, "disease": "congenital myasthenic syndrome 5 (Disease Ontology:DOID:0110667); neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia (MONDO:MONDO:0859137)", "pathway": " (hsa:9442); (R-HSA-1989781); (R-HSA-212436); (R-HSA-381340); (R-HSA-9833110); (R-HSA-9841922)", "pathway_count": 6, "publication_count": 156, "publication_id_list": "10075656;10235266;10330177;10425206;10558993;10777541;10835357;10882111;10882139;11027271;11095972;11237011;11267664;11395415;11607032;11872672;12118000;12177166;12213831;12505311;12582161;12829629;1310260;14519192;14976261;15067378;15130092;15175151;15175163;15273253;15635043;15850785;15896744;15919796;15989967;16380219;16606702;16719718;16972786;17011499;17761950;17980149;18420935;18540824;18719978;18848529;18931025;19043829;19088433;19115207;19172745;19664994;19710929;19934321;20101261;20110263;20410276;2163759;22090124;23186163;23239344;23481700;24129315;24196956;24714562;24715725;25576301;25645385;25854864;25880248;26154972;26375851;26758079;26992070;27058226;27600516;27846572;27862975;27920218;28228285;28649982;28832583;28834231;28904123;29242379;29493099;29508533;29557506;29632711;29786170;30315122;30410026;30429286;30779550;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33329381;33443317;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34561969;35051231;35318648;35580925;36010968;36102648;36284347;36371844;36786527;37217939;37517035;7685352;7892212;8183939;8325954;8521497;8521498;8643605;8647822;8706692;8769649;8770873;8889548;8970730;9012850;9065481;9171241;9454824;9637681;9653119;9744270;9748239;9836620;9989412", "class_list": "", "function": "Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders., [RefSeq, PubMed]; 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, PubMed, PubMed]; Knockdown of mediator complex subunit 27 suppresses gastric cancer cell metastasis and angiogenesis via Wnt/beta-catenin pathway., [RefSeq, PubMed]; MED27 plays a tumor-promoting role in breast cancer progression by targeting KLF4., [RefSeq, PubMed]; The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 5. [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": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O95401;Q4F964;Q5VTA4;Q5VTA5;Q9BU57;Q9NYR4;V9GYV9", "ec_number_list": "", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005667 transcription regulator complex;GO:0000151 ubiquitin ligase 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:0006367 transcription initiation at RNA polymerase II promoter;GO:0032968 positive regulation of transcription elongation by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 15.9, "record_id": "Q6P2C8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9ULK4-1", "uniprot_id": "MED23_HUMAN", "mass": 156474.0, "length": 1368, "protein_name": "Mediator of RNA polymerase II transcription subunit 23", "gene_name": "MED23", "organism": "Human", "refseq_name": "mediator of RNA polymerase II transcription subunit 23 isoform c", "refseq_ac": "NP_001257450", "gene_names_uniprotkb": "MED23; ARC130; CRSP3; DRIP130; KIAA1216; SUR2", "gene_names_refseq": "ARC130; CRSP130; CRSP133; CRSP3; DRIP130; MED23; MRT18; SUR-2; SUR2", "protein_names_uniprotkb": "Mediator of RNA polymerase II transcription subunit 23; ARC130; Activator-recruited cofactor 130 kDa component; CRSP complex subunit 3; Cofactor required for Sp1 transcriptional activation subunit 3; DRIP130; Mediator complex subunit 23; Protein sur-2 homolog; Transcriptional coactivator CRSP130; Vitamin D3 receptor-interacting protein complex 130 kDa component; hSur-2", "protein_names_refseq": "130 kDa transcriptional co-activator; 133 kDa transcriptional co-activator; activator-recruited cofactor 130 kDa component; cofactor required for Sp1 transcriptional activation subunit 3; mediator of RNA polymerase II transcription subunit 23 isoform c; mediator of RNA polymerase II transcription subunit 23; vitamin D3 receptor interacting protein", "tax_id": 9606, "disease": "autosomal dominant nonsyndromic deafness 37 (Disease Ontology:DOID:0070601); Stickler syndrome (Disease Ontology:DOID:0080046); fibrochondrogenesis 1 (Disease Ontology:DOID:0080672); Stickler syndrome 2 (Disease Ontology:DOID:0080675); autosomal recessive intellectual developmental disorder 18 (Disease Ontology:DOID:0081190); Marshall syndrome (Disease Ontology:DOID:0111510); osteoarthritis (Disease Ontology:DOID:8398)", "pathway": " (hsa:9439); (R-HSA-1989781); (R-HSA-212436); (R-HSA-381340); (R-HSA-9833110); (R-HSA-9841922)", "pathway_count": 6, "publication_count": 179, "publication_id_list": "10075656;10235266;10235267;10330177;10353252;10425206;10558993;10777541;10835357;10882139;10993082;11027271;11095972;11230166;11237011;11267664;11395415;11607032;11867769;11872672;12118000;12177166;12213831;12505311;12582161;12829629;1310260;14519192;14759369;14976261;15067378;15130092;15175151;15175163;15273253;15635043;15850785;15896744;15919796;15989967;16380219;16595664;16606702;16719718;16972786;17000779;17011499;17761950;17980149;18420935;18540824;18691976;18719978;18848529;18931025;19043829;19088433;19115207;19172745;19413330;19710929;19934321;20068231;20101261;20110263;20111005;20410276;2163759;21868677;22090124;23239344;23481700;24196956;24397554;24714562;24715725;25576301;25645385;25854864;25880248;25892735;26154972;26811146;26992070;27397612;27543614;27600516;27846572;27920218;28218747;28228285;28514659;28832583;28834231;28855257;28904123;29242379;29437277;29493099;29508533;29557506;29632711;29769354;29786170;29789417;30315122;30410026;30429286;30484775;30524438;31154438;31217245;31530632;31844290;31848261;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33329381;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34405274;34509645;34561969;34725712;34932366;35051231;35318648;35561310;35580925;35705054;36010968;36102648;36241641;36284347;36581221;37938771;37999979;39144687;39366174;7685352;7892212;8183939;8325954;8521497;8521498;8643605;8647822;8706692;8769649;8770873;8970730;9012850;9065481;9171241;9454824;9637681;9653119;9744270;9748239;9836620;9989412", "class_list": "", "function": "LINC00921 reduces lung cancer radiosensitivity by destabilizing NUDT21 and driving aberrant MED23 alternative polyadenylation., [RefSeq, PubMed]; MED23 depletion induces premature senescence in NSCLC cells by interacting with BCLAF1 and then suppressing NUPR1 expression., [RefSeq, PubMed]; MED23 pathogenic variant: genomic-phenotypic analysis., [RefSeq, PubMed]; Required for transcriptional activation subsequent to the assembly of the pre-initiation complex (By similarity). 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 pre-initiation complex with RNA polymerase II and the general transcription factors. Required for transcriptional activation by adenovirus E1A protein. Required for ELK1-dependent transcriptional activation in response to activated Ras signaling., [UniProtKB, PubMed, PubMed, PubMed]; The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. This protein also acts as a metastasis suppressor. Several alternatively spliced transcript variants encoding different isoforms have been described 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": 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": 0, "reported_glycation": 0, "reported_snv": 28, "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": "B9TX55;O95403;Q5JWT3;Q5JWT4;Q6P9H6;Q9H0J2;Q9NTT9;Q9NTU0;Q9Y5P7;Q9Y667", "ec_number_list": "", "go_molecular_function": "GO:0003713 transcription coactivator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005667 transcription regulator complex;GO:0016592 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:0010628 positive regulation of gene expression;GO:0006355 regulation of DNA-templated transcription;GO:0006367 transcription initiation at RNA polymerase II promoter", "synthesized_glycan_count": 0, "hit_score": 18.3, "record_id": "Q9ULK4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P52701-1", "uniprot_id": "MSH6_HUMAN", "mass": 152786.0, "length": 1360, "protein_name": "DNA mismatch repair protein Msh6", "gene_name": "MSH6", "organism": "Human", "refseq_name": "DNA mismatch repair protein Msh6 isoform 1", "refseq_ac": "NP_000170", "gene_names_uniprotkb": "MSH6; GTBP", "gene_names_refseq": "GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3; MSH-6; MSH6; p160", "protein_names_uniprotkb": "DNA mismatch repair protein Msh6; G/T mismatch-binding protein; GTBP; GTMBP; MutS protein homolog 6; MutS-alpha 160 kDa subunit; hMSH6; p160", "protein_names_refseq": "DNA mismatch repair protein Msh6 isoform 1; DNA mismatch repair protein Msh6; G/T mismatch-binding protein; mutS protein homolog 6; mutS-alpha 160 kDa subunit; mutS-like protein 6; sperm-associated protein", "tax_id": 9606, "disease": "hereditary nonpolyposis colorectal cancer type 5 (Disease Ontology:DOID:0070272); colorectal carcinoma (Disease Ontology:DOID:0080199); mismatch repair cancer syndrome (Disease Ontology:DOID:0112182); urinary bladder cancer (Disease Ontology:DOID:11054); endometrial cancer (Disease Ontology:DOID:1380); breast cancer (Disease Ontology:DOID:1612); ovarian cancer (Disease Ontology:DOID:2394); osteosarcoma (Disease Ontology:DOID:3347); breast carcinoma (Disease Ontology:DOID:3459); Lynch syndrome (Disease Ontology:DOID:3883); primary ovarian insufficiency (Disease Ontology:DOID:5426); colorectal cancer (Disease Ontology:DOID:9256); mismatch repair cancer syndrome 3 (MONDO:MONDO:0030841)", "pathway": " (hsa:2956); (R-HSA-5358565); (R-HSA-5632928); (R-HSA-5632968)", "pathway_count": 4, "publication_count": 232, "publication_id_list": "10078208;10413423;10473346;10480359;10521294;10537275;10660545;10699937;10783165;10938287;11005803;11153917;11237011;11274057;11441019;11470537;11586295;11698410;11709755;11807791;11809771;11809883;11884592;12522549;12658575;14520694;14636568;14676842;14961575;14974087;15064730;15225546;15302935;15354210;15365995;15483016;15808853;16143102;16188885;16408927;16464020;16565220;16793375;16855289;16873062;16964243;17081983;17344846;17426132;17438703;17525332;17531815;17557300;17924679;17984070;18033691;18220336;18326858;18452278;18523027;18669648;18691976;18701435;18767875;19228687;19415658;19582761;19608861;19651622;19664994;19691289;20068231;20112406;20154325;20160730;20230923;20713735;20970388;21120944;21406692;21496642;21561855;21937421;21957315;22102614;22118461;22277660;22424782;22581703;23065663;23186163;23301498;23391514;23481700;23622243;24366607;24714562;24715725;25023197;25367160;25418920;25502872;25576301;25645385;25880248;25892735;26154972;26300262;26375851;26728094;26811146;26992070;27600516;27846572;27862975;27893789;27920218;28063628;28218747;28228285;2842325;28514659;28649982;28832583;28834231;28855257;28860189;28904123;29242379;29331515;29371260;29393594;29437277;29442465;29493099;29508533;29557506;29632046;29632711;29786170;29789417;29930882;3004351;30315122;30410026;30524438;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32522876;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34405274;34509645;34561969;34725712;34932366;34941572;35051231;35083852;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37217939;37938771;38665916;38870667;38968511;39003369;39168426;40596516;7604264;7604265;7604266;7713503;8128251;8261515;8505312;8838326;8942985;9099749;9294177;9354786;9428522;9430682;9455487;9469823;9564049;9677427;9822679;9822680;9882630;9889267", "class_list": "", "function": "Assessing the impact of MSH3 and MSH6 polymorphisms on lung cancer risk in North Indian patients undergoing platinum chemotherapy through molecular dynamics simulation. Publication Status: Online-Only, [RefSeq, PubMed]; Assessing the role of MSH2 and MSH6 gene expression deficiency in prostate cancer progression, a cross-sectional study., [RefSeq, PubMed]; Attenuated adenomatous polyposis with MSH6 variation: Two case reports., [RefSeq, PubMed]; Component of the post-replicative DNA mismatch repair system (MMR)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS alpha, which binds to DNA mismatches thereby initiating DNA repair. When bound, MutS alpha bends the DNA helix and shields approximately 20 base pairs, and recognizes single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. After mismatch binding, forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis. ATP binding and hydrolysis play a pivotal role in mismatch repair functions. The ATPase activity associated with MutS alpha regulates binding similar to a molecular switch: mismatched DNA provokes ADP-->ATP exchange, resulting in a discernible conformational transition that converts MutS alpha into a sliding clamp capable of hydrolysis-independent diffusion along the DNA backbone. This transition is crucial for mismatch repair. MutS alpha may also play a role in DNA homologous recombination repair. Recruited on chromatin in G1 and early S phase via its PWWP domain that specifically binds trimethylated 'Lys-36' of histone H3 (H3K36me3): early recruitment to chromatin to be replicated allowing a quick identification of mismatch repair to initiate the DNA mismatch repair reaction., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Inhibition of MSH6 augments the antineoplastic efficacy of cisplatin in non-small cell lung cancer as autophagy modulator., [RefSeq, PubMed]; This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein heterodimerizes with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene may be associated with hereditary nonpolyposis colon cancer, colorectal cancer, and endometrial cancer. Transcripts variants encoding different isoforms 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": 37, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 130, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 13, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DF41;B4E3I4;F5H2F9;O43706;O43917;Q8TCX4;Q9BTB5", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding;GO:0005524 ATP binding;GO:0019899 enzyme binding;GO:0003684 damaged DNA binding;GO:0008094 ATP-dependent activity, acting on DNA", "go_cellular_component": "GO:0032301 MutSalpha complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0005694 chromosome", "go_biological_process": "GO:0000710 meiotic mismatch repair;GO:0006281 DNA repair;GO:0007283 spermatogenesis;GO:0006298 mismatch repair;GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage", "synthesized_glycan_count": 0, "hit_score": 23.5, "record_id": "P52701-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y2I2-3", "uniprot_id": "NTNG1_HUMAN", "mass": 60541.0, "length": 539, "protein_name": "Netrin-G1", "gene_name": "NTNG1", "organism": "Human", "refseq_name": "netrin-G1 isoform G1a preproprotein", "refseq_ac": "NP_001106697", "gene_names_uniprotkb": "NTNG1; KIAA0976; LMNT1; PRO1133", "gene_names_refseq": "Lmnt1; NTNG1; NetG1; NetrinG1", "protein_names_uniprotkb": "Netrin-G1; Laminet-1", "protein_names_refseq": "axon guidance molecule; laminet 1; netrin-G1 isoform G1a preproprotein", "tax_id": 9606, "disease": "", "pathway": " (hsa:22854); (R-HSA-163125)", "pathway_count": 2, "publication_count": 27, "publication_id_list": "11072085;12975309;14595443;15340161;15508520;15705354;15901489;21946559;24190977;2443973;25880248;28832583;29557506;29605689;32157095;32357974;33392160;33592498;33936100;34073619;3422494;35051231;35580925;36010968;36536414;37074911;38101695", "class_list": "", "function": "A Genetic Study of Cerebral Atherosclerosis Reveals Novel Associations with NTNG1 and CNOT3. Publication Status: Online-Only, [RefSeq, PubMed]; CircNTNG1 inhibits renal cell carcinoma progression via HOXA5-mediated epigenetic silencing of Slug. Erratum:[Mol Cancer. 2023 Jan 20;22(1):14. doi: 10.1186/s12943-023-01726-w. PMID: 36670419] Publication Status: Online-Only, [RefSeq, PubMed]; Comprehensive analysis of the role of Netrin G1 (NTNG1) in hepatocellular carcinoma cells., [RefSeq, PubMed]; Findings suggest that netrin G1 or a nearby gene may contribute to overall genetic risk for schizophrenia GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Involved in controlling patterning and neuronal circuit formation at the laminar, cellular, subcellular and synaptic levels. Promotes neurite outgrowth of both axons and dendrites., [UniProtKB, PubMed]; NTNG1 may use alternative splicing to diversify its function in a developmentally and tissue-specific manner., [RefSeq, PubMed]; Netrin-G1 is an important part of the NGL-1 receptor and functions to promote the outgrowth of dorsal thalamic axons., [RefSeq, PubMed]; Specific haplotypes encompassing alternatively spliced exons of NTNG1 were associated with schizophrenia, and concordantly, messenger ribonucleic acid isoform expression was significantly different between schizophrenic and control brains., [RefSeq, PubMed]; This gene encodes a preproprotein that is processed into a secreted protein containing eukaroytic growth factor (EGF)-like domains. This protein acts to guide axon growth during neuronal development. Polymorphisms in this gene may be associated with schizophrenia. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2015]., [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": 35, "reported_interactions": 0, "missing_score": 9781, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q5VU86;Q5VU87;Q5VU89;Q5VU90;Q5VU91;Q7Z2Y3;Q8N633", "ec_number_list": "", "go_molecular_function": "GO:0050839 cell adhesion molecule binding;GO:0098632 cell-cell adhesion mediator activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0048787 presynaptic active zone membrane;GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0098685 Schaffer collateral - CA1 synapse", "go_biological_process": "GO:0007409 axonogenesis;GO:0050804 modulation of chemical synaptic transmission;GO:0010975 regulation of neuron projection development;GO:0099560 synaptic membrane adhesion;GO:2001222 regulation of neuron migration", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q9Y2I2-3", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BZY9-1", "uniprot_id": "TRI31_HUMAN", "mass": 48244.0, "length": 425, "protein_name": "E3 ubiquitin-protein ligase TRIM31", "gene_name": "TRIM31", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase TRIM31", "refseq_ac": "NP_008959", "gene_names_uniprotkb": "TRIM31; C6orf13; RNF", "gene_names_refseq": "C6orf13; HCG1; HCGI; RNF; TRIM31", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase TRIM31; 2.3.2.27; Tripartite motif-containing protein 31", "protein_names_refseq": "E3 ubiquitin-protein ligase TRIM31; RING-type E3 ubiquitin transferase TRIM31; tripartite motif-containing protein 31", "tax_id": 9606, "disease": "", "pathway": " (hsa:11074); (R-HSA-877300)", "pathway_count": 2, "publication_count": 59, "publication_id_list": "10067896;10986460;11331580;11972023;12040185;12438563;12446674;12915721;1396683;14586410;14722222;14759258;1508672;15143187;15322115;15388922;15530433;16237089;16467876;17125875;18362138;18591661;18773414;20049711;20130243;20304997;20363976;23061660;24417533;25576301;27929086;27992402;29351928;29557506;33239784;34171305;34185709;35941326;35970857;36094501;37498068;38978046;7510216;7514165;7530745;7615558;7617032;7657660;7673114;7690989;7796299;8156998;8176225;8483949;8530158;8550631;8631301;9111318;9143706", "class_list": "", "function": "An investigation of the molecular characterization of the tripartite motif (TRIM) family and primary validation of TRIM31 in gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; CircNFIX knockdown inhibited AML tumorigenicity by the miR-876-3p/TRIM31 axis., [RefSeq, PubMed]; E3 ubiquitin-protein ligase that acts as a regulator of antiviral immune response and inflammation by mediating ubiquitination of substrates (PubMed:18773414, PubMed:27929086, PubMed:27992402). Acts as a regulator of innate immune defense against viruses by mediating 'Lys-63'-linked ubiquitination of MAVS, promoting MAVS polymerization and formation of three-stranded helical filaments on mitochondria (PubMed:27992402). Acts as a negative regulator of the NLRP3 inflammasome by catalyzing 'Lys-48'-linked ubiquitination of NLRP3, leading to its degradation (PubMed:27929086). Regulator of Src-induced anchorage independent cell growth (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; Exosomal microRNA-551b-3p from bone marrow-derived mesenchymal stromal cells inhibits breast cancer progression via regulating TRIM31/Akt signaling., [RefSeq, PubMed]; Increased TRIM31 gene expression is positively correlated with SARS-CoV-2 associated genes TMPRSS2 and TMPRSS4 in gastrointestinal cancers. Publication Status: Online-Only, [RefSeq, PubMed]; TRIM31 promotes the progression of oral squamous cell carcinoma through upregulating AKT phosphorylation and subsequent cellular glycolysis., [RefSeq, PubMed]; This gene encodes a protein that functions as an E3 ubiquitin-protein ligase. This gene shows altered expression in certain tumors and may be a negative regulator of cell growth. 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": 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": 10, "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": "A6NLX6;A9R9Q4;Q53H52;Q5RI37;Q5SRJ7;Q5SRJ8;Q5SS28;Q96AK4;Q96AP8;Q99579;Q9BZY8", "ec_number_list": "2.3.2.27;2.7.7.84;1.8.4.-;1.8.-.-;2.3.2.-;3.6.1.-;3.6.5.-;2.7.11.1;2.3.1.-;6.3.2.n3", "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:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0032897 negative regulation of viral transcription;GO:0006954 inflammatory response;GO:0045087 innate immune response;GO:0051607 defense response to virus;GO:0006511 ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q9BZY9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IZ13-1", "uniprot_id": "F200C_HUMAN", "mass": 68327.0, "length": 594, "protein_name": "Protein FAM200C", "gene_name": "FAM200C", "organism": "Human", "refseq_name": "protein FAM200C", "refseq_ac": "NP_001290180", "gene_names_uniprotkb": "FAM200C; Buster3; C5orf54; ZBED8", "gene_names_refseq": "Buster3; C5orf54; FAM200C; ZBED8", "protein_names_uniprotkb": "Protein FAM200C; Protein ZBED8; Transposon-derived Buster3 transposase-like protein; Zinc finger BED domain-containing protein 8", "protein_names_refseq": "family with sequence similarity 200 member C; protein FAM200C; protein ZBED8; transposon-derived Buster3 transposase-like protein; zinc finger BED domain-containing protein 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:63920)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "10607616;23481700;23533661;28218747;28904123;29242379;30315122;31217245;31844290;32387766;32488085;32938616;33298915;33968037;34211107;35580925;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": 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": "D3DQJ9;Q9H5S8;Q9UH87", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q8IZ13-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P15531-1", "uniprot_id": "NDKA_HUMAN", "mass": 17149.0, "length": 152, "protein_name": "Nucleoside diphosphate kinase A", "gene_name": "NME1", "organism": "Human", "refseq_name": "nucleoside diphosphate kinase A isoform b", "refseq_ac": "NP_000260", "gene_names_uniprotkb": "NME1; NDPKA; NM23", "gene_names_refseq": "AWD; GAAD; NBS; NB; NDK1; NDKA; NDPK A; NDPK-A; NDPKA; NM23-H1; NM23; NME1", "protein_names_uniprotkb": "Nucleoside diphosphate kinase A; 2.7.11.1; 2.7.13.3; 2.7.4.18; 2.7.4.6; 3.1.11.-; 3.1.24.-; Farnesyl diphosphate kinase NME1; GAAD; Histidine protein kinase NME1; Metastasis inhibition factor nm23; NDK1; NDP kinase A; NDPK A; NM23-H1; Non-specific serine/threonine protein kinase NME1; Nucleoside diphoshate kinase 1; Putative 3'-5'-DNA exonuclease NDK1; Putative granzyme A-activated DNA endonuclease; Tumor metastatic process-associated protein", "protein_names_refseq": "NDP kinase A; epididymis secretory sperm binding protein; farnesyl diphosphate kinase NME1; granzyme A-activated DNase; histidine protein kinase NME1; metastasis inhibition factor nm23; non-metastatic cells 1, protein (NM23A) expressed in; non-specific serine/threonine protein kinase NME1; nucleoside diphoshate kinase 1; nucleoside diphosphate kinase A isoform b; nucleoside diphosphate kinase A; putative 3'-5'-DNA exonuclease NDK1; putative granzyme A-activated DNA endonuclease; tumor metastatic process-associated protein", "tax_id": 9606, "disease": "prostate carcinoma (Disease Ontology:DOID:10286); urinary bladder cancer (Disease Ontology:DOID:11054); breast cancer (Disease Ontology:DOID:1612); squamous cell carcinoma (Disease Ontology:DOID:1749); ovary epithelial cancer (Disease Ontology:DOID:2152); ovarian cancer (Disease Ontology:DOID:2394); teratoma (Disease Ontology:DOID:3307); breast carcinoma (Disease Ontology:DOID:3459); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); renal cell carcinoma (Disease Ontology:DOID:4450); neuroblastoma (Disease Ontology:DOID:769)", "pathway": " (hsa:4830); (R-HSA-499943); (R-HSA-9748787); (R-HSA-9755088)", "pathway_count": 4, "publication_count": 200, "publication_id_list": "10215863;10453732;10512675;10618642;10716435;10799505;10840050;10884394;10899599;10952986;11237011;11277919;11278511;11517226;11687967;11694515;11796141;11835509;11912132;12435799;12499231;12601555;12606760;12628186;12697733;12972261;13211603;14729598;14960567;15630091;15747503;15850391;15861032;15917509;16179339;16265592;16313181;16373698;16442775;16446384;16530731;16717136;16756507;16818237;16820675;16847342;16944299;17135357;17155928;17301077;17320107;17412768;177353;17824959;17906697;17996297;18234856;18469;1851158;18635542;18635603;18669648;18997010;19164483;19176520;19220460;19651622;19766732;197968;19956735;20068231;20096989;20166139;20173735;20216118;20486858;20504255;2056128;21080915;211388;211390;21396942;21484438;2159925;21723252;22444596;22847445;22869372;22905912;23096567;23186163;23328677;23416111;23448979;23519676;23816837;24107682;24715725;24824603;24957263;24974183;2509941;2542324;25502872;25582197;25880248;26154972;26238318;2656695;2668278;26992070;2737800;27846572;280136;28831131;28991262;29242379;29482072;29493099;29563135;29580856;30045981;30192525;30410026;30716294;30833945;30987408;31520644;31611695;31844290;31848261;32157095;32350084;32357974;32502341;32870666;32897882;32938616;32983136;33465208;33537174;33633747;33691108;33717175;33903070;33968037;33981976;34087483;34171305;34357683;34433824;34725712;35051231;35083852;35138101;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36768287;37298313;37938771;38029727;38556604;38665916;39302247;40596516;40615;5484814;5767308;6182143;6248551;657528;6989049;7685356;7851394;7916650;8047138;8226881;8245015;8270257;8448179;8529641;8626464;8663313;8670112;8810265;9038158;9099726;9132023;942489;9488696;9605565;9647364;9677297", "class_list": "", "function": "A Unique Mode of Coenzyme A Binding to the Nucleotide Binding Pocket of Human Metastasis Suppressor NME1. Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the transfer of a gamma-phosphoryl group from a nucleoside triphosphate, mainly ATP, to a nucleoside diphosphate via a ping-pong mechanism involving a phosphohistidine intermediate, therefore contributing to the nucleoside triphosphate homeostasis (PubMed:10952986, PubMed:14960567, PubMed:16313181, PubMed:1851158, PubMed:23519676, PubMed:33903070, PubMed:8810265, PubMed:9038158). Also phosphorylates geranyl pyrophosphate (GPP) and farnesyl pyrophosphate (FPP), linking it to isoprenoid metabolism (PubMed:10952986). Additionally, functions as a non-specific serine/threonine kinase and histidine protein kinase, transferring phosphoryl groups from its active site to target proteins (PubMed:8529641, PubMed:9038158). May function as a Mg(2+)-dependent single-stranded DNA endonuclease as part of the SET complex, cooperating with the 3'-5' exonuclease TREX1 to mediate apoptotic DNA fragmentation in cytotoxic T lymphocytes (PubMed:12628186, PubMed:16818237). Reported to nick one DNA strand, enabling TREX1 to remove nucleotides from the free 3' end, enhancing DNA damage and suppressing DNA end reannealing and repair (PubMed:16818237). Has been shown to cleave double strands DNA within the 3'-portions of both 5'-SHS silencer and NHE basal promoter element of the PDGFA gene, potentially repressing its transcription (PubMed:11694515). May also function as a Mg(2+)-dependent 3'-5' DNA exonuclease, excising nucleotides from 3' single-stranded DNA or DNA with 3' single strand overhangs, suggesting a role in DNA nucleolytic processing (PubMed:14960567, PubMed:16313181). Involved in the regulation of tumor metastasis and cellular differentiation (By similarity). Also required for cell motility (PubMed:8270257, PubMed:25582197). May control, with NME2, AcCoA usage between histone acetylation and fatty acid synthesis, possibly by binding and releasing AcCoA at transcriptionally active chromatin regions in proximity to histone acetyltransferase (HAT) (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Does the Blood-Brain Barrier Integrity Change in Regard to the Onset of Fetal Growth Restriction? Publication Status: Online-Only, [RefSeq, PubMed]; NME1 and DCC variants are associated with susceptibility and tumor characteristics in Mexican patients with colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; NSUN6 Regulates NM23-H1 Expression in an m5C Manner to Affect Epithelial-Mesenchymal Transition in Lung Cancer., [RefSeq, PubMed]; This gene (NME1) was identified because of its reduced mRNA transcript levels in highly metastatic cells. Nucleoside diphosphate kinase (NDK) exists as a hexamer composed of 'A' (encoded by this gene) and 'B' (encoded by NME2) isoforms. Mutations in this gene have been identified in aggressive neuroblastomas. Two transcript variants encoding different isoforms have been found for this gene. Co-transcription of this gene and the neighboring downstream gene (NME2) generates naturally-occurring transcripts (NME1-NME2), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [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": 12, "reported_mutagensis": 24, "reported_glycation": 0, "reported_snv": 3, "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": "Q6FGK3;Q86XQ2;Q9UDJ6", "ec_number_list": "2.7.4.10;2.7.4.6;2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.4.3;2.7.4.4;2.7.11.23;2.7.1.40;3.1.11.-;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.7.4.14;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0120225 coenzyme A binding;GO:0008296 3'-5'-DNA exonuclease activity;GO:0000287 magnesium ion binding;GO:0003677 DNA binding;GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0006897 endocytosis;GO:0007399 nervous system development;GO:0008285 negative regulation of cell population proliferation;GO:0030154 cell differentiation;GO:0042304 regulation of fatty acid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 20.4, "record_id": "P15531-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P61513-1", "uniprot_id": "RL37A_HUMAN", "mass": 10275.0, "length": 92, "protein_name": "Large ribosomal subunit protein eL43", "gene_name": "RPL37A", "organism": "Human", "refseq_name": "large ribosomal subunit protein eL43", "refseq_ac": "NP_000989", "gene_names_uniprotkb": "RPL37A", "gene_names_refseq": "L37A; RPL37A; eL43", "protein_names_uniprotkb": "Large ribosomal subunit protein eL43; 60S ribosomal protein L37a", "protein_names_refseq": "60S ribosomal protein L37a; large ribosomal subunit protein eL43", "tax_id": 9606, "disease": "", "pathway": " (hsa:6168); (R-HSA-156827); (R-HSA-156902); (R-HSA-1799339); (R-HSA-192823); (R-HSA-2408557); (R-HSA-6791226); (R-HSA-72689); (R-HSA-72706); (R-HSA-72764); (R-HSA-9010553); (R-HSA-9633012); (R-HSA-975956); (R-HSA-975957); (R-HSA-9954709); (R-HSA-9954714); (R-HSA-9954716)", "pathway_count": 17, "publication_count": 264, "publication_id_list": "10.1101/2023.09.13.557529;10358005;10659855;1095581;10970870;10982836;11018020;11018027;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;1400365;1437567;14527413;14567916;14630918;14636577;14742663;14973490;15034551;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16989641;17053788;17142313;17189298;17267404;17352659;17353269;17363904;17412707;17726049;17803942;17893241;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18455985;18524595;18539146;1856230;1861871;18657639;18974281;19060897;19106111;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608919;19706539;19801658;19859661;19909264;20023408;20038530;20056613;2006156;20068231;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21419344;22072790;22121020;22190735;22195017;22645359;22916032;23085078;23217742;23234702;23269699;23439679;23482395;23636399;23685075;23746841;2388630;24424021;24524803;24550520;24714562;24715725;25132172;25242263;25418920;25502872;25525153;25576301;25578875;25892735;25969445;26024233;26154972;26237581;26375851;26728094;26758079;26992070;27526673;27600516;27846572;28065601;28132843;28218747;28228285;28649982;28685749;28832583;28834231;28855257;28871256;28904123;29242379;29331515;29393594;29413899;29437277;29493099;29557506;29632046;29632312;29632711;29769354;29786170;29789417;30192525;30244831;30293783;30315122;30410026;30484775;30524438;30779550;30804176;30833945;31011209;31154438;31217245;31611695;31844290;31848261;31998317;32099016;32157095;32161166;32350084;32387766;32488085;32579943;32669547;32897882;32938616;32983136;33091337;33141586;33214551;33298915;33392160;33406423;33592498;33633747;33909987;33912179;33936100;33968037;34019948;34229054;34357683;34433824;34509645;34725712;35051231;35083852;35251023;35580925;36215666;36284347;36302773;37074911;37217939;37676773;37938771;38665916;39395807;429297;592398;592399;641056;6568109;6901506;7990965;8224875;8336711;8407925;8479924;8890909;9211906;9431993;9482744;9631292;9637248;9712840", "class_list": "", "function": "Component of the large ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; 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 60S subunit. The protein belongs to the L37AE family of ribosomal proteins. It is located in the cytoplasm. The protein contains a C4-type zinc finger-like domain. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "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": "P12751;Q6FGF5", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005925 focal adhesion;GO:0045202 synapse", "go_biological_process": "GO:1901740 negative regulation of myoblast fusion;GO:0007283 spermatogenesis;GO:0006412 translation;GO:0006941 striated muscle contraction;GO:0002181 cytoplasmic translation", "synthesized_glycan_count": 0, "hit_score": 27.1, "record_id": "P61513-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TDD5-1", "uniprot_id": "MCLN3_HUMAN", "mass": 64248.0, "length": 553, "protein_name": "Mucolipin-3", "gene_name": "MCOLN3", "organism": "Human", "refseq_name": "mucolipin-3 isoform 2", "refseq_ac": "NP_001240622", "gene_names_uniprotkb": "MCOLN3", "gene_names_refseq": "MCOLN3; TRP-ML3; TRPML3", "protein_names_uniprotkb": "Mucolipin-3; TRPML3; Transient receptor potential channel mucolipin 3", "protein_names_refseq": "mucolipin-3 isoform 2; transient receptor potential channel mucolipin 3", "tax_id": 9606, "disease": "mucolipidosis type IV (Disease Ontology:DOID:0080490); glycoproteinosis (Disease Ontology:DOID:3343)", "pathway": " (hsa:55283); (R-HSA-3295583)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "10.1101/2023.09.13.557529;11050376;11226139;11237011;11243859;11301059;12015988;1422598;14634208;16606612;18369318;19497048;19522758;19885840;20025796;20378547;20716668;21245134;22753890;23469151;24269818;25389312;25765567;25855297;27920218;29106414;29242379;29557506;29577631;29741879;30215288;31844290;32157095;32350084;32983136;33592498", "class_list": "", "function": "Negatively charged amino acids in the extracellular loops of TRPML3 may interfere with the observed sodium inhibition., [RefSeq, PubMed]; Nonselective cation channel probably playing a role in the regulation of membrane trafficking events. Acts as a Ca(2+)-permeable cation channel with inwardly rectifying activity (PubMed:18369318, PubMed:19497048, PubMed:19522758, PubMed:19885840, PubMed:29106414). Mediates release of Ca(2+) from endosomes to the cytoplasm, contributes to endosomal acidification and is involved in the regulation of membrane trafficking and fusion in the endosomal pathway (PubMed:21245134). Also permeable to Mg(2+), Na(+) and K(+) (By similarity). Does not seem to act as mechanosensory transduction channel in inner ear sensory hair cells. Proposed to play a critical role at the cochlear stereocilia ankle-link region during hair-bundle growth (By similarity). Involved in the regulation of autophagy (PubMed:19522758). Through association with GABARAPL2 may be involved in autophagosome formation possibly providing Ca(2+) for the fusion process (By similarity). Through a possible and probably tissue-specific heteromerization with MCOLN1 may be at least in part involved in many lysosome-dependent cellular events (PubMed:19885840). Possible heteromeric ion channel assemblies with TRPV5 show pharmacological similarity with TRPML3 (PubMed:23469151)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Palmitoylation is a prerequisite for the function of MCOLN3/TRPML3 as a Ca(2+) channel in autophagosome formation., [RefSeq, PubMed]; TRPML3 and TRPV5 heteromers could have a biological function, [RefSeq, PubMed]; The work elucidates the molecular architecture and provides insights into how multiple ligands regulate TRPML1 and TRPML3. (Review) Review article, [RefSeq, PubMed]; There is a hierarchy controlling the subcellular distributions of the TRPMLs such that TRPML1 and TRPML2 dictate the localization of TRPML3 and not vice versa, [RefSeq, PubMed]; These results suggest that TRPML3 plays a role in autophagosome maturation through the interaction with GATE16, by providing Ca(2+) in the fusion process., [RefSeq, PubMed]; This gene encodes one of members of the mucolipin cation channel proteins. Mutation studies of the highly similar protein in mice have shown that the protein is found in cochlea hair cells, and mutant mice show early-onset hearing loss and balance problems. Multiple 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": 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": 15, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 4, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q5T4H5;Q5T4H6;Q9NV09", "ec_number_list": "2.7.11.1;1.8.-.-", "go_molecular_function": "GO:0072345 NAADP-sensitive calcium-release channel activity;GO:0005262 calcium channel activity;GO:0008289 lipid binding;GO:0005267 potassium channel activity;GO:0005253 monoatomic anion channel activity", "go_cellular_component": "GO:0000421 autophagosome membrane;GO:0005886 plasma membrane;GO:0005765 lysosomal membrane;GO:0031902 late endosome membrane;GO:0031901 early endosome membrane", "go_biological_process": "GO:0070588 calcium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q8TDD5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZUA9-1", "uniprot_id": "MROH5_HUMAN", "mass": 149091.0, "length": 1318, "protein_name": "Maestro heat-like repeat family member 5", "gene_name": "MROH5", "organism": "Human", "refseq_name": "maestro heat-like repeat family member 5", "refseq_ac": "NP_997297", "gene_names_uniprotkb": "MROH5", "gene_names_refseq": "MROH5", "protein_names_uniprotkb": "Maestro heat-like repeat family member 5", "protein_names_refseq": "maestro heat-like repeat family member 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:389690)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;25892735;28218747;29557506;31154438;33633747;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": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q6ZUA9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BYJ1-1", "uniprot_id": "LOXE3_HUMAN", "mass": 80543.0, "length": 711, "protein_name": "Hydroperoxide isomerase ALOXE3", "gene_name": "ALOXE3", "organism": "Human", "refseq_name": "hydroperoxide isomerase ALOXE3 isoform 1", "refseq_ac": "NP_001159432", "gene_names_uniprotkb": "ALOXE3", "gene_names_refseq": "ALOXE3; ARCI3; E-LOX; LI5; eLOX-3; eLOX3", "protein_names_uniprotkb": "Hydroperoxide isomerase ALOXE3; 4.2.1.152; 5.4.4.7; Epidermal LOX-3; Epidermis-type lipoxygenase 3; Hydroperoxy dehydratase ALOXE3; Hydroperoxy icosatetraenoate dehydratase; Hydroperoxy icosatetraenoate isomerase; e-LOX-3; eLOX-3", "protein_names_refseq": "Epidermal lipoxygenase-3; Lamellar ichthyosis 5; arachidonate lipoxygenase 3; e-LOX-3; epidermal LOX-3; epidermal lipoxygenase; epidermis-type lipoxygenase 3; hydroperoxide isomerase ALOXE3 isoform 1; hydroperoxide isomerase ALOXE3; hydroperoxy dehydratase ALOXE3; hydroperoxy icosatetraenoate dehydratase; hydroperoxy icosatetraenoate isomerase", "tax_id": 9606, "disease": "autosomal recessive congenital ichthyosis 1 (Disease Ontology:DOID:0060656); autosomal recessive congenital ichthyosis 3 (Disease Ontology:DOID:0060711)", "pathway": " (hsa:59344); (R-HSA-2142712)", "pathway_count": 2, "publication_count": 29, "publication_id_list": "10692117;11115402;11237011;11350124;11773004;12881489;15629692;16116617;17045234;17436029;19131948;19890349;20921226;20923767;21558561;2217179;2318885;2377602;24715725;26370990;29557506;29789417;32387766;33435499;33581311;6816802;8334154;8428933;9618483", "class_list": "", "function": "ELOX-3 hydrolase functions in the normal process of skin differentiation, and that the loss of function mutations are the basis of the LOX-dependent form of Non-bullous congenital ichthyosiform erythroderma., [RefSeq, PubMed]; Formation of a ligand for the nuclear receptor PPARalpha may be one possibility by which 12R-LOX and eLOX3 contribute to epidermal differentiation., [RefSeq, PubMed]; Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1., [RefSeq, PubMed]; Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients. Publication Status: Online-Only, [RefSeq, PubMed]; Non-heme iron-containing lipoxygenase which is atypical in that it displays a prominent hydroperoxide isomerase activity and a reduced lipoxygenases activity (PubMed:12881489, PubMed:17045234, PubMed:20921226, PubMed:20923767). The hydroperoxide isomerase activity catalyzes the isomerization of hydroperoxides, derived from arachidonic and linoleic acid by ALOX12B, into hepoxilin-type epoxyalcohols and ketones (PubMed:12881489, PubMed:17045234, PubMed:20923767). In presence of oxygen, oxygenates polyunsaturated fatty acids, including arachidonic acid, to produce fatty acid hydroperoxides (PubMed:20921226). In the skin, acts downstream of ALOX12B on the linoleate moiety of esterified omega-hydroxyacyl-sphingosine (EOS) ceramides to produce an epoxy-ketone derivative, a crucial step in the conjugation of omega-hydroxyceramide to membrane proteins (PubMed:21558561). Therefore plays a crucial role in the synthesis of corneocytes lipid envelope and the establishment of the skin barrier to water loss (PubMed:21558561). In parallel, it may have a signaling function in barrier formation through the production of hepoxilins metabolites (PubMed:21558561). Also plays a role in adipocyte differentiation through hepoxilin A3 and hepoxilin B3 production which in turn activate PPARG (By similarity). Through the production of hepoxilins in the spinal cord, it may regulate inflammatory tactile allodynia (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; The ALOXE3 gene variants from patients with Dravet syndrome decrease gene expression and enzyme activity., [RefSeq, PubMed]; This gene is a member of the lipoxygenase family, which are catabolized by arachidonic acid-derived compounds. The encoded enzyme is a hydroperoxide isomerase that synthesizes a unique type of epoxy alcohol (8R-hydroxy-11R,12R-epoxyeicosa-5Z,9E,14Z-trienoic acid) from 12R-hydroperoxyeicosatetraenoic acid (12R-HPETE). This epoxy alcohol can activate the the nuclear receptor peroxisome proliferator-activated receptor alpha (PPARalpha), which is implicated in epidermal differentiation. Loss of function of the enzyme encoded by this gene results in ichthyosis, implicating the function of this gene in the differentiation of human skin. This gene is part of a cluster of lipoxygenase genes on 17p13.1. Mutations in this gene result in nonbullous congenital ichthyosiform erythroderma (NCIE). Multiple transcript variants encoding different isoforms have been found for this gene.[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": 1, "reported_glycation": 0, "reported_snv": 4, "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": "B2R981;B7Z3W0;Q3ZB74;Q9H4F2;Q9HC22", "ec_number_list": "1.14.14.1;4.2.1.152;5.3.99.5;1.14.14.-;5.4.4.7;1.14.14.73;1.14.14.74;5.3.99.4", "go_molecular_function": "GO:0005506 iron ion binding;GO:0016702 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen;GO:0106255 hydroperoxy icosatetraenoate isomerase activity;GO:0106256 hydroperoxy icosatetraenoate dehydratase activity;GO:0050486 intramolecular hydroxytransferase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0016020 membrane;GO:0005737 cytoplasm", "go_biological_process": "GO:0034440 lipid oxidation;GO:0046513 ceramide biosynthetic process;GO:0061436 establishment of skin barrier;GO:0006665 sphingolipid metabolic process;GO:0019233 sensory perception of pain", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q9BYJ1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P53778-1", "uniprot_id": "MK12_HUMAN", "mass": 41940.0, "length": 367, "protein_name": "Mitogen-activated protein kinase 12", "gene_name": "MAPK12", "organism": "Human", "refseq_name": "mitogen-activated protein kinase 12 isoform 2", "refseq_ac": "NP_001290181", "gene_names_uniprotkb": "MAPK12; ERK6; SAPK3", "gene_names_refseq": "ERK-6; ERK3; ERK6; MAPK 12; MAPK12; P38GAMMA; PRKM12; SAPK-3; SAPK3", "protein_names_uniprotkb": "Mitogen-activated protein kinase 12; 2.7.11.24; ERK-6; Extracellular signal-regulated kinase 6; MAP kinase 12; MAP kinase p38 gamma; MAPK 12; Mitogen-activated protein kinase p38 gamma; Stress-activated protein kinase 3", "protein_names_refseq": "MAP kinase 12; MAP kinase p38 gamma; extracellular signal-regulated kinase 6; mitogen-activated protein kinase 12 isoform 2; mitogen-activated protein kinase 3; mitogen-activated protein kinase p38 gamma; stress-activated protein kinase 3", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:6300); (R-HSA-168638); (R-HSA-171007); (R-HSA-2151209); (R-HSA-4420097); (R-HSA-525793); (R-HSA-5675221)", "pathway_count": 7, "publication_count": 164, "publication_id_list": "10037737;10075701;10206983;10207622;10212242;10224040;10329646;10330143;10395673;10415025;10490027;10508788;10567720;10601328;10677529;10692392;10702308;10702794;10744763;10749680;10757792;10805738;10848581;11007481;11010976;11062067;11087742;11237011;11278486;11460167;11481440;11695992;11696015;11782431;11991731;12134158;12167088;12214271;12215529;12391143;12464388;12514169;12527755;12583813;12634428;12660731;12791997;12796777;12810700;12820653;12917691;14514672;14592936;14633987;14724572;14724641;15026417;15247219;15284239;15308668;15327770;15620648;15664191;15688067;15695828;15851477;15962004;16336962;16760434;16892053;16966330;17030947;17047224;17081983;17097642;17099248;17199126;17237347;17293873;17303577;17344846;17496917;17562858;17686471;17724032;17724343;18079694;18294816;18332145;18477386;18515281;18547165;19091743;19112161;19158341;19230643;19230644;19267251;19413330;19535145;19564926;20160094;20300203;20332238;20605917;20626350;20658524;21172807;21445309;21451146;21532888;21779496;22327215;22689825;22706990;22730326;23105109;23186163;23216836;25314968;25418920;25597358;26992070;27246854;27920218;28904123;29242379;30315122;30833945;31530632;31844290;32161166;32387766;32938616;33912179;33981976;34561969;34719109;35051231;35246508;36241641;38214819;39121975;7509446;7972015;8617235;8633070;8846784;8920915;8986718;9069290;9099726;9169156;9182576;9374491;9393975;9398617;9418854;9430721;9472046;9744859;9786951;9858528;9988769", "class_list": "", "function": "Activation of members of the mitogen-activated protein kinase family is a major mechanism for transduction of extracellular signals. Stress-activated protein kinases are one subclass of MAP kinases. The protein encoded by this gene functions as a signal transducer during differentiation of myoblasts to myotubes. [provided by RefSeq, Jul 2008]., [RefSeq]; Conditional ERK3 overexpression cooperates with PTEN deletion to promote lung adenocarcinoma formation in mice., [RefSeq, PubMed]; G-quadruplex structural dynamics at MAPK12 promoter dictates transcriptional switch to determine stemness in breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; LOC730101 transmitted by exosomes facilitates laryngeal squamous cell carcinoma tumorigenesis via regulation of p38 MAPK gamma., [RefSeq, PubMed]; Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK12 is one of the four p38 MAPKs which play an important role in the cascades of cellular responses evoked by extracellular stimuli such as pro-inflammatory cytokines or physical stress leading to direct activation of transcription factors such as ELK1 and ATF2. Accordingly, p38 MAPKs phosphorylate a broad range of proteins and it has been estimated that they may have approximately 200 to 300 substrates each. Some of the targets are downstream kinases such as MAPKAPK2, which are activated through phosphorylation and further phosphorylate additional targets. Plays a role in myoblast differentiation and also in the down-regulation of cyclin D1 in response to hypoxia in adrenal cells suggesting MAPK12 may inhibit cell proliferation while promoting differentiation. Phosphorylates DLG1. Following osmotic shock, MAPK12 in the cell nucleus increases its association with nuclear DLG1, thereby causing dissociation of DLG1-SFPQ complexes. This function is independent of its catalytic activity and could affect mRNA processing and/or gene transcription to aid cell adaptation to osmolarity changes in the environment. Regulates UV-induced checkpoint signaling and repair of UV-induced DNA damage and G2 arrest after gamma-radiation exposure. MAPK12 is involved in the regulation of SLC2A1 expression and basal glucose uptake in L6 myotubes; and negatively regulates SLC2A4 expression and contraction-mediated glucose uptake in adult skeletal muscle. C-Jun (JUN) phosphorylation is stimulated by MAPK14 and inhibited by MAPK12, leading to a distinct AP-1 regulation. MAPK12 is required for the normal kinetochore localization of PLK1, prevents chromosomal instability and supports mitotic cell viability. MAPK12-signaling is also positively regulating the expansion of transient amplifying myogenic precursor cells during muscle growth and regeneration., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The pro-tumorigenic activity of p38gamma overexpression in nasopharyngeal 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": 10, "reported_mutagensis": 3, "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": "Q14260;Q6IC53;Q99588;Q99672", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;3.1.3.48;2.3.1.-;2.7.10.1;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;3.6.5.2;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0016504 peptidase activator activity;GO:0004707 MAP kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0007165 signal transduction;GO:0035556 intracellular signal transduction;GO:0000165 MAPK cascade;GO:0007517 muscle organ development", "synthesized_glycan_count": 0, "hit_score": 16.5, "record_id": "P53778-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZRR7-1", "uniprot_id": "LRRC9_HUMAN", "mass": 166911.0, "length": 1453, "protein_name": "Leucine-rich repeat-containing protein 9", "gene_name": "LRRC9", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "LRRC9", "gene_names_refseq": "", "protein_names_uniprotkb": "Leucine-rich repeat-containing protein 9", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:341883)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;27600516;29557506;30192525;32387766;32938616;33968037;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": 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:0030620 U2 snRNA binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005634 nucleus", "go_biological_process": "GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q6ZRR7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H2I8-1", "uniprot_id": "LRMDA_HUMAN", "mass": 22568.0, "length": 198, "protein_name": "Leucine-rich melanocyte differentiation-associated protein", "gene_name": "LRMDA", "organism": "Human", "refseq_name": "leucine-rich melanocyte differentiation-associated protein isoform 2", "refseq_ac": "NP_114413", "gene_names_uniprotkb": "LRMDA; C10orf11; CDA017", "gene_names_refseq": "C10orf11; CDA017; LRMDA", "protein_names_uniprotkb": "Leucine-rich melanocyte differentiation-associated protein", "protein_names_refseq": "leucine-rich melanocyte differentiation-associated protein isoform 2; leucine-rich melanocyte differentiation-associated protein; leucine-rich repeat-containing protein C10orf11", "tax_id": 9606, "disease": "oculocutaneous albinism type VII (Disease Ontology:DOID:0070100)", "pathway": " (hsa:83938)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11237011;16385451;16964243;18088087;19844253;23395477;25645385;27600516;29557506;29632046;31848261;32157095;32387766;32488085;32938616;33592498;34509645;35051231;35580925;36284347", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Required for melanocyte differentiation., [UniProtKB, PubMed, UniProtKB, UniProtKB]; This finding suggests that haploinsufficiency of C10orf11 contributes to the cognitive defects in 10q22 deletion patients., [RefSeq, PubMed]; This gene encodes a leucine-rich repeat protein. The encoded protein is thought to play a role in melanocyte differentiation. Mutations in this gene have been associated with autosomal recessive oculocutaneous albinism 7 (OCA7). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 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": 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": "B1AVW6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "GO:0030318 melanocyte differentiation;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q9H2I8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99687-1", "uniprot_id": "MEIS3_HUMAN", "mass": 41115.0, "length": 375, "protein_name": "Homeobox protein Meis3", "gene_name": "MEIS3", "organism": "Human", "refseq_name": "homeobox protein Meis3 isoform 2", "refseq_ac": "NP_001009813", "gene_names_uniprotkb": "MEIS3; MRG2", "gene_names_refseq": "MEIS3; MRG2", "protein_names_uniprotkb": "Homeobox protein Meis3; Meis1-related protein 2", "protein_names_refseq": "Meis1, myeloid ecotropic viral integration site 1 homolog 3; homeobox protein Meis3 isoform 2; homeobox protein Meis3; meis1-related protein 2", "tax_id": 9606, "disease": "restless legs syndrome (Disease Ontology:DOID:0050425); leukemia (Disease Ontology:DOID:1240)", "pathway": " (hsa:56917)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;26354419;33376716;9049632", "class_list": "", "function": "Findings support a model in which Meis3 is required for neural crest proliferation, migration into, and colonization of the gut such that its loss leads to severe defects in enteric nervous system development., [RefSeq, PubMed]; Inhibition of MEIS3 Generates Cetuximab Resistance through c-Met and Akt. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a homeobox protein and probable transcriptional regulator. The orthologous protein in mouse controls expression of 3-phosphoinositide dependent protein kinase 1, which promotes survival of pancreatic beta-cells. [provided by RefSeq, Sep 2016]., [RefSeq]; Transcriptional regulator which directly modulates PDPK1 expression, thus promoting survival of pancreatic beta-cells. Also regulates expression of NDFIP1, BNIP3, and CCNG1., [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": 5, "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": "A8K1N5;Q6NT73;Q8TC66;Q9NPW2", "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:0043565 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:0000785 chromatin", "go_biological_process": "GO:0001525 angiogenesis;GO:0008284 positive regulation of cell population proliferation;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": 0.5, "record_id": "Q99687-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H2L5-1", "uniprot_id": "RASF4_HUMAN", "mass": 36748.0, "length": 321, "protein_name": "Ras association domain-containing protein 4", "gene_name": "RASSF4", "organism": "Human", "refseq_name": "ras association domain-containing protein 4", "refseq_ac": "NP_114412", "gene_names_uniprotkb": "RASSF4; AD037", "gene_names_refseq": "AD037; RASSF4", "protein_names_uniprotkb": "Ras association domain-containing protein 4", "protein_names_refseq": "Ras association (RalGDS/AF-6) domain family 4; Ras association (RalGDS/AF-6) domain family member 4; Ras association domain family 4; ras association domain-containing protein 4; tumor suppressor RASSF4", "tax_id": 9606, "disease": "", "pathway": " (hsa:83937)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "11237011;15574778;16385451;23481700;23783831;25418920;25880248;26811146;27920218;28063628;28228285;28832583;29242379;29259009;29393594;29557506;29632046;29789417;30315122;30429286;31154438;31508857;31530632;31844290;31998317;32157095;32265295;32357974;32387766;32488085;32938616;32983136;33968037;34121238;34932366;35051231;35580925;36284347;37938771", "class_list": "", "function": "Loss of RASSF4 Expression in Multiple Myeloma Promotes RAS-Driven Malignant Progression., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Potential tumor suppressor. May act as a KRAS effector protein. May promote apoptosis and cell cycle arrest., [UniProtKB, PubMed]; RASSF4 is required for skeletal muscle differentiation., [RefSeq, PubMed]; The function of this gene has not yet been determined but may involve a role in tumor suppression. Alternative splicing of this gene results in several transcript variants; however, most of the variants have not been fully described. [provided by RefSeq, Jul 2008]., [RefSeq]; Wnt/beta-catenin signaling pathway participates in the effect of miR-626 on oral squamous cell carcinoma by targeting RASSF4., [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": 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": "Q86WH5;Q86WH6;Q86WH7;Q8N5A9;Q8TCK6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q9H2L5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BQK8-1", "uniprot_id": "LPIN3_HUMAN", "mass": 93614.0, "length": 851, "protein_name": "Phosphatidate phosphatase LPIN3", "gene_name": "LPIN3", "organism": "Human", "refseq_name": "phosphatidate phosphatase LPIN3 isoform 1", "refseq_ac": "NP_001288789", "gene_names_uniprotkb": "LPIN3; LIPN3L", "gene_names_refseq": "LIPN3L; LPIN3; SMP2; dJ620E11.2", "protein_names_uniprotkb": "Phosphatidate phosphatase LPIN3; 3.1.3.4; Lipin-3-like; Lipin-3", "protein_names_refseq": "phosphatidate phosphatase LPIN3 isoform 1; phosphatidate phosphatase LPIN3", "tax_id": 9606, "disease": "myoglobinuria (Disease Ontology:DOID:0080108); lipid metabolism disorder (Disease Ontology:DOID:3146); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:64900); (R-HSA-1483191); (R-HSA-1483213); (R-HSA-4419969); (R-HSA-75109)", "pathway_count": 5, "publication_count": 91, "publication_id_list": "10100195;10191259;10677542;10893425;11044454;11068039;11237011;11420179;11481335;11672446;11698453;12055623;12216837;12221122;12618427;12824082;14521909;14970677;14973250;15175005;15715662;15845384;15889145;15911624;16861033;17007874;17132865;17158099;17420445;17478478;17561512;18238778;18583706;18669648;18694939;18718904;19336658;19494125;19494126;19915674;20338778;20643956;20735359;20876142;21081492;21413788;2188730;2188731;21926997;22134922;22241472;22481384;22986494;23186163;23263658;23328280;2344612;23481700;23901139;24714562;24732803;24828044;25576301;25838202;26005868;26048993;26945070;26992070;28821867;28904123;29242379;29393594;30315122;3057511;32157095;32488085;32938616;33596934;33912179;33968037;34087483;34171305;35051231;35580925;36010968;36241641;37776435;8034666;8463284;9083101;9593753", "class_list": "", "function": "A newly identified novel cell-penetrating sequence (LPIN; RRKRRRRRK) from the nuclear localization sequence (NLS) of human nuclear phosphatase, LPIN3., [RefSeq, PubMed]; Data revealed that lipin 1 formed stable homo-oligomers with itself and hetero-oligomers with lipin 2/3., [RefSeq, PubMed]; Haploinsufficiency of Lipin3 leads to hypertriglyceridemia and obesity by disrupting the expression and nucleocytoplasmic localization of Lipin1., [RefSeq, PubMed]; Identification of lipidomic profiles associated with drug-resistant prostate cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; LPIN1-related myolysis constitutes a major cause of early-onset rhabdomyolysis and occasionally in adults. Heterozygous LPIN1 mutations may cause mild muscular symptoms. No major defects of LPIN2 or LPIN3 genes were associated with muscle manifestations., [RefSeq, PubMed]; Magnesium-dependent phosphatidate phosphatase enzyme which catalyzes the conversion of phosphatidic acid to diacylglycerol during triglyceride, phosphatidylcholine and phosphatidylethanolamine biosynthesis therefore regulates fatty acid metabolism., [UniProtKB, UniProtKB]; The protein encoded by this gene is a member of the lipin family of proteins, and all family members share strong homology in their C-terminal region. This protein is thought to form hetero-oligomers with other lipin family members, while one family member, lipin 1, can also form homo-oligomers. This protein contains conserved motifs for phosphatidate phosphatase 1 (PAP1) activity as well as a domain that interacts with a transcriptional co-activator. Lipin complexes act in the cytoplasm to catalyze the dephosphorylation of phosphatidic acid to produce diacylglycerol, which is the precursor of both triglycerides and phospholipids. Lipin complexes are also thought to regulate gene expression as transcriptional co-activators in the nucleus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 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": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "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": "B2RTT5;Q5TDB9;Q9NPY8;Q9UJE5", "ec_number_list": "3.1.3.-;3.1.3.4;3.1.3.106;3.6.1.75;3.1.3.16;2.7.11.22;2.7.11.23", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0008195 phosphatidate phosphatase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0009062 fatty acid catabolic process;GO:0032869 cellular response to insulin stimulus;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0019432 triglyceride biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 9.2, "record_id": "Q9BQK8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O15091-1", "uniprot_id": "MRPP3_HUMAN", "mass": 67315.0, "length": 583, "protein_name": "Mitochondrial ribonuclease P catalytic subunit", "gene_name": "PRORP", "organism": "Human", "refseq_name": "mitochondrial ribonuclease P catalytic subunit isoform 2", "refseq_ac": "NP_001243607", "gene_names_uniprotkb": "PRORP; KIAA0391; MRPP3", "gene_names_refseq": "COXPD54; KIAA0391; MRPP3; PRORP", "protein_names_uniprotkb": "Mitochondrial ribonuclease P catalytic subunit; 3.1.26.5; Mitochondrial RNase P protein 3; Mitochondrial ribonuclease P protein 3; Protein only RNase P catalytic subunit", "protein_names_refseq": "mitochondrial RNase P protein 3; mitochondrial RNase P subunit 3; mitochondrial ribonuclease P catalytic subunit isoform 2; mitochondrial ribonuclease P catalytic subunit; mitochondrial ribonuclease P protein 3; proteinaceous RNase P", "tax_id": 9606, "disease": "combined oxidative phosphorylation deficiency 54 (Disease Ontology:DOID:0070427)", "pathway": " (hsa:9692); (R-HSA-6785470); (R-HSA-6787450); (R-HSA-8868766)", "pathway_count": 4, "publication_count": 72, "publication_id_list": "11237011;11504732;12456664;12621050;15509579;16826519;18984158;19624571;19732863;21559454;21593607;21857155;21890497;22336717;22608499;22991464;23042678;23097428;23186163;23625533;23814040;23849775;23929671;24126054;24901367;25193871;25552653;25652405;25892735;25925575;25928769;25953853;26016801;27350246;27600516;27920218;28218747;28228285;28514659;28834231;29242379;29390138;29393594;29437277;29493099;29557506;29632046;29760464;30315122;30833945;31154438;31217245;31844290;32047918;32157095;32488085;32938616;33912179;33968037;34171305;34489609;34715011;34932366;35051231;35494241;35580925;36215666;36241641;37558808;37938771;38262497;9512533", "class_list": "", "function": "Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations., [RefSeq, PubMed]; Catalytic ribonuclease component of mitochondrial ribonuclease P, a complex composed of TRMT10C/MRPP1, HSD17B10/MRPP2 and PRORP/MRPP3, which cleaves tRNA molecules in their 5'-ends (PubMed:18984158, PubMed:25953853, PubMed:34715011). The presence of TRMT10C/MRPP1, HSD17B10/MRPP2 is required to catalyze tRNA molecules in their 5'-ends (PubMed:25953853)., [UniProtKB, PubMed, PubMed, PubMed]; Comprehensive functional interrogation of susceptibility loci in GWASs identified KIAA0391 as a novel oncogenic driver via regulating pyroptosis in NSCLC., [RefSeq, PubMed]; Haplotypes in KIAA0391 and PSMA6 genes is a genetic link for myocardial infarction and coronary artery disease. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54., [RefSeq, PubMed]; Structural basis of RNA processing by human mitochondrial RNase P., [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": 8, "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": "B4DXD9;B4E0S8;B4E211;C4AM93;D3DS99;D3DSA1;Q86SZ4;Q86YB5;Q8N5L5", "ec_number_list": "3.1.26.5;2.1.1.-;2.1.1.218;2.1.1.221;1.1.1.35;1.1.1.62;1.1.1.239;1.1.1.178;1.1.1.53;1.1.1.159;3.1.26.11", "go_molecular_function": "GO:0046872 metal ion binding;GO:0004526 ribonuclease P activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0042645 mitochondrial nucleoid;GO:0030678 mitochondrial ribonuclease P complex", "go_biological_process": "GO:0001682 tRNA 5'-leader removal;GO:0097745 mitochondrial tRNA 5'-end processing;GO:0008033 tRNA processing", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "O15091-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BY19-1", "uniprot_id": "M4A8_HUMAN", "mass": 26290.0, "length": 250, "protein_name": "Membrane-spanning 4-domains subfamily A member 8", "gene_name": "MS4A8", "organism": "Human", "refseq_name": "membrane-spanning 4-domains subfamily A member 8", "refseq_ac": "NP_113645", "gene_names_uniprotkb": "MS4A8; 4SPAN4; MS4A8B", "gene_names_refseq": "4SPAN4; CD20L5; MS4A4; MS4A8B; MS4A8", "protein_names_uniprotkb": "Membrane-spanning 4-domains subfamily A member 8; Four-span transmembrane protein 4; Membrane-spanning 4-domains subfamily A member 8B", "protein_names_refseq": "four-span transmembrane protein 4; membrane-spanning 4-domains subfamily A member 8; membrane-spanning 4-domains, subfamily A, member 8B", "tax_id": 9606, "disease": "", "pathway": " (hsa:83661)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;11401424;23348583;29242379;31154438;31844290;31848261;32938616;35051231;35289036", "class_list": "", "function": "MS4A8B is a novel differentiation marker of the intestinal epithelium that supports the maintenance of a physiological barrier function in the gut by modulating the transcriptome and by conferring an increased resistance to reactive oxygen species. Publication Status: Online-Only, [RefSeq, PubMed]; May be involved in signal transduction as a component of a multimeric receptor complex., [UniProtKB]; This gene encodes a member of the membrane-spanning 4A gene family. Members of this protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.3, among a cluster of family members. [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": 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": 0, "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": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q8TCA5", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q9BY19-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HAP2-1", "uniprot_id": "MLXIP_HUMAN", "mass": 101185.0, "length": 919, "protein_name": "MLX-interacting protein", "gene_name": "MLXIP", "organism": "Human", "refseq_name": "MLX-interacting protein", "refseq_ac": "NP_055753", "gene_names_uniprotkb": "MLXIP; BHLHE36; KIAA0867; MIR; MONDOA", "gene_names_refseq": "MIR; MLXIP; MONDOA; bHLHe36", "protein_names_uniprotkb": "MLX-interacting protein; Class E basic helix-loop-helix protein 36; Transcriptional activator MondoA; bHLHe36", "protein_names_refseq": "MLX-interacting protein; Mlx interactor; class E basic helix-loop-helix protein 36; transcriptional activator MondoA", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:22877)", "pathway_count": 1, "publication_count": 78, "publication_id_list": "11073985;11237011;12446771;16782875;18458340;18669648;19413330;22506051;23186163;24715725;25576301;26154972;26315267;26992070;27846572;27920218;28228285;28411811;28832583;28834231;28904123;29237092;29242379;29351928;29557506;29632046;29632711;29786170;30059200;30315122;30379171;30429286;30524438;30620550;31092671;31154438;31217245;31287806;31782782;31844290;31848261;32157095;32161166;32387766;32488085;32897882;32938616;32938750;33141586;33214551;33298915;33901495;33908607;33968037;33981976;34019948;34171305;34185709;34357683;34561969;34932366;35051231;35132862;35138101;35289036;35561310;35580925;36010968;36241641;36284347;36398713;37340703;37541260;37938771;38665916;39263770;39531497;39894887", "class_list": "", "function": "Binds DNA as a heterodimer with MLX and activates transcription. Binds to the canonical E box sequence 5'-CACGTG-3'. Plays a role in transcriptional activation of glycolytic target genes. Involved in glucose-responsive gene regulation., [UniProtKB, UniProtKB, PubMed, PubMed]; Data show that for both MondoA and Mlx, the C-terminal domain CRM-1 has cytoplasmic localization activity that is required by the protein monomers to accumulate in the cytoplasm., [RefSeq, PubMed]; Endogenous MondoA and Mlx associate with mitochondria in primary skeletal muscle., [RefSeq, PubMed]; Genetic polymorphisms of LMX1B and MLXIP are associated with hip osteoarthritis in the Chinese population., [RefSeq, PubMed]; MondoA drives malignancy in B-ALL through enhanced adaptation to metabolic stress., [RefSeq, PubMed]; MondoA drives muscle lipid accumulation and insulin resistance. Publication Status: Online-Only, [RefSeq, PubMed]; MondoA-Thioredoxin-Interacting Protein Axis Maintains Regulatory T-Cell Identity and Function in Colorectal Cancer Microenvironment., [RefSeq, PubMed]; TXNIP induced by MondoA, rather than ChREBP, suppresses cervical cancer cell proliferation, migration and invasion., [RefSeq, PubMed]; These studies suggest a key role for MondoA:Mlx complexes in the adaptive transcriptional response to changes in extracellular glucose concentration and peripheral glucose uptake., [RefSeq, PubMed]; This gene encodes a protein that functions as part of a heterodimer to activate transcription. The encoded protein forms a heterodimer with Max-like protein X (MLX) and is involved in the regulation of genes in response to cellular glucose levels. [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": 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": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "A7MBN0;O94945;Q7LC47;Q8IXP1;Q8TAH9;Q8WVQ0;Q8WYA5", "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:0005741 mitochondrial outer membrane;GO:0000785 chromatin", "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:0042593 glucose homeostasis", "synthesized_glycan_count": 0, "hit_score": 9.2, "record_id": "Q9HAP2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UI17-1", "uniprot_id": "M2GD_HUMAN", "mass": 96811.0, "length": 866, "protein_name": "Dimethylglycine dehydrogenase, mitochondrial", "gene_name": "DMGDH", "organism": "Human", "refseq_name": "dimethylglycine dehydrogenase, mitochondrial isoform 1precursor", "refseq_ac": "NP_037523", "gene_names_uniprotkb": "DMGDH", "gene_names_refseq": "DMGDHD; DMGDH; ME2GLYDH", "protein_names_uniprotkb": "Dimethylglycine dehydrogenase, mitochondrial; 1.5.8.4; ME2GLYDH", "protein_names_refseq": "dimethylglycine dehydrogenase, mitochondrial isoform 1precursor; dimethylglycine dehydrogenase, mitochondrial", "tax_id": 9606, "disease": "dimethylglycine dehydrogenase deficiency (Disease Ontology:DOID:0081446); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:29958); (R-HSA-6798163)", "pathway_count": 2, "publication_count": 27, "publication_id_list": "10102904;10444331;10767172;10966938;11231903;11237011;12951056;14429690;16729965;18937046;19236841;19357133;20207735;22825317;25954742;26675765;27486859;27614103;29356306;31844290;32983136;33124720;34087483;35051231;35580925;37938771;6163778", "class_list": "", "function": "Analysis of dimethylglycine dehydrogenase deficiency associated with pathogenic variant H109R, [RefSeq, PubMed]; Catalyzes the demethylation of N,N-dimethylglycine to sarcosine. Also has activity with sarcosine in vitro., [UniProtKB, PubMed]; In agreement with previous studies, we show that the genetic variant rs921943 in DMGDH is significantly associated with selenium status in United Kingdom pregnant women., [RefSeq, PubMed]; In nonalcoholic fatty liver disease patient, the missense variant p.Ser646Pro (rs1805074) in DMGDH gene was significantly associated with disease severity and circulating levels of dimethylglycine., [RefSeq, PubMed]; Our study suggested markers in BHMT/BHMT2 and DMGDH might affect the risk of NSCL/P through pairwise interaction., [RefSeq, PubMed]; The structure-based analysis provided new insights into the kinetic properties of dimethylglycine dehydrogenase in particular with respect to oxygen reactivity., [RefSeq, PubMed]; This gene encodes an enzyme involved in the catabolism of choline, catalyzing the oxidative demethylation of dimethylglycine to form sarcosine. The enzyme is found as a monomer in the mitochondrial matrix, and uses flavin adenine dinucleotide and folate as cofactors. Mutation in this gene causes dimethylglycine dehydrogenase deficiency, characterized by a fishlike body odor, chronic muscle fatigue, and elevated levels of the muscle form of creatine kinase in serum. 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": 0, "reported_glycation": 0, "reported_snv": 5, "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": "B2RBN0;B4E1J9", "ec_number_list": "1.5.8.4", "go_molecular_function": "GO:0003723 RNA binding;GO:0009055 electron transfer activity;GO:0047865 dimethylglycine dehydrogenase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0019695 choline metabolic process;GO:0042426 choline catabolic process;GO:0006579 amino-acid betaine catabolic process", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q9UI17-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P49286-1", "uniprot_id": "MTR1B_HUMAN", "mass": 40188.0, "length": 362, "protein_name": "Melatonin receptor type 1B", "gene_name": "MTNR1B", "organism": "Human", "refseq_name": "melatonin receptor type 1B", "refseq_ac": "NP_005950", "gene_names_uniprotkb": "MTNR1B", "gene_names_refseq": "FGQTL2; MEL-1B-R; MT2; MTNR1B", "protein_names_uniprotkb": "Melatonin receptor type 1B; Mel-1B-R; Mel1b receptor", "protein_names_refseq": "mel1b receptor; melatonin receptor MEL1B; melatonin receptor type 1B", "tax_id": 9606, "disease": "acute pancreatitis (Disease Ontology:DOID:2913); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:4544); (R-HSA-373076); (R-HSA-418594)", "pathway_count": 3, "publication_count": 50, "publication_id_list": "10696804;11007482;11237011;12120503;12522134;12524422;12955148;14617636;15141213;15280385;15326175;15929991;15951850;16540462;1656963;16634148;16754668;16844083;16923326;17139494;17339491;17462861;17876302;18434541;18577758;18588883;21796212;2263478;2534964;2748346;2834384;28827538;30524438;31019305;31324691;34087483;36010968;36215666;38013530;38052941;38213225;38246330;7498464;7568007;7689702;7775459;7937899;7946354;8015379;8406495", "class_list": "", "function": "High affinity receptor for melatonin. Likely to mediate the reproductive and circadian actions of melatonin. The activity of this receptor is mediated by pertussis toxin sensitive G proteins that inhibit adenylate cyclase activity., [UniProtKB]; MTNR 1B (rs10830963) Gene Polymorphism, but not MTNR 1A (rs2119882), Associated with Type 2 Diabetes Mellitus Risk in Saudi Arabia., [RefSeq, PubMed]; MTNR1B genotype and effects of carbohydrate quantity and dietary glycaemic index on glycaemic response to an oral glucose load: the OmniCarb trial., [RefSeq, PubMed]; Melatonin ameliorates hepatic fibrosis via the melatonin receptor 2-mediated upregulation of BMAL1 and anti-oxidative enzymes., [RefSeq, PubMed]; Relationship Between Genetic Variant Of OXTR (Rs53576) And MTNR1B (Rs1387153) And Symptoms Of Psychological Stress In Females With Gestational Diabetes Mellitus., [RefSeq, PubMed]; This gene encodes one of two high affinity forms of a receptor for melatonin, the primary hormone secreted by the pineal gland. This gene product is an integral membrane protein that is a G-protein coupled, 7-transmembrane receptor. It is found primarily in the retina and brain although this detection requires RT-PCR. It is thought to participate in light-dependent functions in the retina and may be involved in the neurobiological effects of melatonin. [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": 21, "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:0004930 G protein-coupled receptor activity;GO:0008502 melatonin receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0045202 synapse", "go_biological_process": "GO:0051970 negative regulation of transmission of nerve impulse;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007187 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;GO:0007268 chemical synaptic transmission;GO:0043524 negative regulation of neuron apoptotic process", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "P49286-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5XKP0-1", "uniprot_id": "MIC13_HUMAN", "mass": 13087.0, "length": 118, "protein_name": "MICOS complex subunit MIC13", "gene_name": "MICOS13", "organism": "Human", "refseq_name": "MICOS complex subunit MIC13 isoform 1", "refseq_ac": "NP_001295169", "gene_names_uniprotkb": "MICOS13; C19orf70; MIC13; QIL1", "gene_names_refseq": "C19orf70; MIC12; MIC13; MICOS13; P117; QIL1", "protein_names_uniprotkb": "MICOS complex subunit MIC13; Protein P117", "protein_names_refseq": "MICOS complex subunit MIC13 isoform 1; MICOS complex subunit MIC13; protein QIL1", "tax_id": 9606, "disease": "combined oxidative phosphorylation deficiency 37 (Disease Ontology:DOID:0111499)", "pathway": " (hsa:125988); (R-HSA-8949613)", "pathway_count": 2, "publication_count": 70, "publication_id_list": "11237011;17121862;17510655;17624330;18323778;20833715;21836051;22114354;22252321;22645359;22864911;24098383;24687277;25285856;25418920;25505266;25576301;25645385;25764979;25781180;25892735;25997101;26024233;26154972;26416881;26477565;26530328;26811146;26929215;26968360;26992070;27184847;27479602;27485409;27623147;27862975;28228285;28510447;28832583;28904123;29242379;29393594;29493099;29557506;29618761;29632046;30315122;30410026;30429286;30484775;30833945;31217245;31844290;31848261;31998317;32157095;32265295;32350084;32357974;32387766;32567732;32983136;33298915;33717175;33936100;34171305;34271005;34357683;35051231;35251023", "class_list": "", "function": "Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Conserved GxxxG and WN motifs of MIC13 are essential for bridging two MICOS subcomplexes., [RefSeq, PubMed]; MIC13 has a fundamental role in crista junction formation and that assembly of respiratory chain supercomplexes is independent of mitochondrial cristae shape. Publication Status: Online-Only, [RefSeq, PubMed]; Mitochondrial hepato-encephalopathy patients were found to be homozygous for the p.(Gly15Glufs*75) variant in the QIL1 . QIL1 deficiency is associated with disassembly of the MICOS complex, aberration of cristae morphology and mitochondrial respiratory dysfunction., [RefSeq, PubMed]; We identified QIL1 (C19orf70) as a novel conserved MICOS subunit. 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": 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": "A0A0B4J2A5;K7EKR0;Q86YE5", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0001401 SAM complex;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0044284 mitochondrial crista junction;GO:0061617 MICOS complex", "go_biological_process": "GO:0042407 cristae formation;GO:0007007 inner mitochondrial membrane organization", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q5XKP0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NR34-1", "uniprot_id": "MA1C1_HUMAN", "mass": 70911.0, "length": 630, "protein_name": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IC", "gene_name": "MAN1C1", "organism": "Human", "refseq_name": "mannosyl-oligosaccharide 1,2-alpha-mannosidase IC isoform 2", "refseq_ac": "NP_001275939", "gene_names_uniprotkb": "MAN1C1; MAN1A3; MAN1C", "gene_names_refseq": "HMIC; MAN1A3; MAN1C1; MAN1C; pp6318", "protein_names_uniprotkb": "Mannosyl-oligosaccharide 1,2-alpha-mannosidase IC; 3.2.1.113; Alpha-1,2-mannosidase IC; HMIC; Mannosidase alpha class 1C member 1; Processing alpha-1,2-mannosidase IC", "protein_names_refseq": "1,2-alpha-mannosidase IC; mannosyl-oligosaccharide 1,2-alpha-mannosidase IC isoform 2; mannosyl-oligosaccharide 1,2-alpha-mannosidase IC; processing alpha-1,2-mannosidase IC", "tax_id": 9606, "disease": "", "pathway": " (hsa:57134); (R-HSA-6811438); (R-HSA-964827)", "pathway_count": 3, "publication_count": 60, "publication_id_list": "10.1038/emboj.2013.79;10189370;10652308;10652516;10915796;11237011;11718716;11748249;12011112;12383348;12429822;15504911;15718469;15728195;15758030;16964243;17274799;17727818;18086915;18256213;18451304;19164740;19536132;19715559;20163571;20166139;20874812;21807881;22013193;22188167;23091056;23239882;23378023;23462996;23584533;23839779;23936529;23940353;24119662;24275569;25708460;28832583;28904123;29242379;29314611;30459171;32350084;32419574;34357683;35051231;35251023;39333557;8636227;8945478;9244307;9476900;9510256;9653114;9707577;9915833", "class_list": "glycogene;glycosylhydrolase", "function": "Elevated alpha-1,2-mannosidase MAN1C1 in glioma stem cells and its implications for immunological changes and prognosis in glioma patients. Publication Status: Online-Only, [RefSeq, PubMed]; Golgi alpha1,2-mannosidase I induces clustering and compartmentalization of CD147 during epithelial cell migration., [RefSeq, PubMed]; Involved in the maturation of Asn-linked oligosaccharides. Trim alpha-1,2-linked mannose residues from Man(9)GlcNAc(2) to produce first Man(8)GlcNAc(2) then Man(6)GlcNAc and a small amount of Man(5)GlcNAc., [UniProtKB]; Overexpression of Golgi alpha1,2-mannosidase IA, IB, and IC also accelerates ERAD of terminally misfolded human alpha1-antitrypsin variant null (Hong Kong) (NHK), and mannose trimming from the N-glycans on NHK in 293 cells, [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": 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": 755, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A6NNE2;B2RNP2;Q9Y545", "ec_number_list": "2.3.1.-;3.2.1.-;3.2.1.113;3.2.1.114;3.6.5.2", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0004571 mannosyl-oligosaccharide 1,2-alpha-mannosidase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0070062 extracellular exosome", "go_biological_process": "GO:0005975 carbohydrate metabolic process;GO:0006487 protein N-linked glycosylation;GO:0036503 ERAD pathway;GO:1904381 Golgi apparatus N-glycan mannose trimming;GO:0006491 N-glycan processing", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q9NR34-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NES4-1", "uniprot_id": "MRO2A_HUMAN", "mass": 189561.0, "length": 1674, "protein_name": "Maestro heat-like repeat-containing protein family member 2A", "gene_name": "MROH2A", "organism": "Human", "refseq_name": "maestro heat-like repeat-containing protein family member 2A isoform 2", "refseq_ac": "NP_001381568", "gene_names_uniprotkb": "MROH2A; HEATR7B1", "gene_names_refseq": "HEATR7B1; MROH2A", "protein_names_uniprotkb": "Maestro heat-like repeat-containing protein family member 2A; HEAT repeat-containing protein 7B1", "protein_names_refseq": "HEAT repeat containing 7B1; maestro heat-like repeat-containing protein family member 2A isoform 2; maestro heat-like repeat-containing protein family member 2A", "tax_id": 9606, "disease": "", "pathway": " (hsa:339766)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;28218747;28904123;29242379;29437277;29557506;33141586;33968037;35051231", "class_list": "", "function": "This gene encodes a HEAT-domain-containing protein. The function of the encoded protein has not been characterized. [provided by RefSeq, Aug 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "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": "F8VUA0", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "A6NES4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NP71-1", "uniprot_id": "MLXPL_HUMAN", "mass": 93073.0, "length": 852, "protein_name": "Carbohydrate-responsive element-binding protein", "gene_name": "MLXIPL", "organism": "Human", "refseq_name": "carbohydrate-responsive element-binding protein isoform alpha", "refseq_ac": "NP_116569", "gene_names_uniprotkb": "MLXIPL; BHLHD14; MIO; WBSCR14", "gene_names_refseq": "CHREBP; MIO; MLXIPL; MONDOB; WBSCR14; WS-bHLH; bHLHd14", "protein_names_uniprotkb": "Carbohydrate-responsive element-binding protein; ChREBP; Class D basic helix-loop-helix protein 14; MLX interactor; MLX-interacting protein-like; WS basic-helix-loop-helix leucine zipper protein; WS-bHLH; Williams-Beuren syndrome chromosomal region 14 protein; bHLHd14", "protein_names_refseq": "Mlx interactor; WS basic-helix-loop-helix leucine zipper protein; Williams Beuren syndrome chromosome region 14; Williams-Beuren syndrome chromosome region 14 protein 1; Williams-Beuren syndrome chromosome region 14 protein 2; Williams-Beuren syndrome chromosome region 14 protein 3; carbohydrate response element binding protein; carbohydrate-responsive element-binding protein isoform alpha; carbohydrate-responsive element-binding protein; class D basic helix-loop-helix protein 14; williams-Beuren syndrome chromosomal region 14 protein", "tax_id": 9606, "disease": "metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); alcohol use disorder (Disease Ontology:DOID:1574); coronary artery disease (Disease Ontology:DOID:3393); kidney disease (Disease Ontology:DOID:557); myocardial infarction (Disease Ontology:DOID:5844); end stage renal disease (Disease Ontology:DOID:783); type 2 diabetes mellitus (Disease Ontology:DOID:9352); irritable bowel syndrome (Disease Ontology:DOID:9778)", "pathway": " (hsa:51085); (R-HSA-163358); (R-HSA-163680); (R-HSA-163765); (R-HSA-163767)", "pathway_count": 5, "publication_count": 36, "publication_id_list": "10698692;10780788;11230181;11237011;11698644;12721358;12802337;12878598;14742444;14759258;15664996;16644726;16885160;17148476;18606808;20166139;22466288;22506051;23186163;24275569;24715725;26578976;28450420;29557506;32387766;32663610;32938616;35051231;35580925;37055547;38101397;38128383;38253038;38331848;38668731;9860302", "class_list": "", "function": "A genome-first approach to variants in MLXIPL and their association with hepatic steatosis and plasma lipids. Publication Status: Online-Only, [RefSeq, PubMed]; ChREBP is activated by reductive stress and mediates GCKR-associated metabolic traits., [RefSeq, PubMed]; Glucose-responsive transcription activator that regulates fatty acid synthesis and glycolysis. Key determinant of systemic insulin sensitivity and glucose homeostasis. Important for the expression of fatty acid synthetic enzymes, including PC/Pcx, APOC4/Acl, ACACA/Acc1 and FASN/Fas (By similarity). Important for glucose-induced expression of L-type pyruvate kinase/PKLR (By similarity). Binds to the canonical and non-canonical E box DNA sequences 5'-CACGTG-3' and 5'-CACGCG-3' (By similarity). May also act as a transcriptional repressor (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Interaction of genetic variation at ADH1B and MLXIPL with alcohol consumption for elevated serum urate level and gout among people of European ethnicity. Publication Status: Online-Only, [RefSeq, PubMed]; Knockdown of ChREBP ameliorates retinal microvascular endothelial cell injury and angiogenic responses in diabetic retinopathy., [RefSeq, PubMed]; The role of ChREBP in carbohydrate sensing and NAFLD development. Review article, [RefSeq, PubMed]; This gene encodes a basic helix-loop-helix leucine zipper transcription factor of the Myc/Max/Mad superfamily. This protein forms a heterodimeric complex and binds and activates, in a glucose-dependent manner, carbohydrate response element (ChoRE) motifs in the promoters of triglyceride synthesis genes. The gene is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]., [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": 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": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 48, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 9, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "C5HU02;C5HU03;C5HU04;Q96E48;Q9BY03;Q9BY04;Q9BY05;Q9BY06;Q9Y2P3", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0046982 protein heterodimerization 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:0005737 cytoplasm;GO:0005829 cytosol;GO:0005667 transcription regulator complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0008284 positive regulation of cell population proliferation;GO:0008610 lipid biosynthetic process;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q9NP71-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P267-1", "uniprot_id": "MBD5_HUMAN", "mass": 159895.0, "length": 1494, "protein_name": "Methyl-CpG-binding domain protein 5", "gene_name": "MBD5", "organism": "Human", "refseq_name": "methyl-CpG-binding domain protein 5 isoform 2", "refseq_ac": "NP_060798", "gene_names_uniprotkb": "MBD5; KIAA1461", "gene_names_refseq": "C2DELq23.1; DEL2Q23.1; MBD5; MRD1", "protein_names_uniprotkb": "Methyl-CpG-binding domain protein 5; Methyl-CpG-binding protein MBD5", "protein_names_refseq": "methyl-CpG-binding domain protein 5 isoform 2; methyl-CpG-binding protein MBD5", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); autosomal dominant intellectual developmental disorder (Disease Ontology:DOID:0060307); autosomal dominant intellectual developmental disorder 1 (Disease Ontology:DOID:0070031)", "pathway": " (hsa:55777); (R-HSA-5689603)", "pathway_count": 2, "publication_count": 41, "publication_id_list": "11237011;12529184;16906146;17139257;17847001;18497827;19188440;19815555;20436459;20700456;20805357;22726846;23481700;24634419;2530630;25576301;27397612;27920218;28228285;28649982;28832583;28904123;29242379;29557506;29632711;29769354;30192525;31844290;32938616;33141586;33427406;33510365;34019948;34459404;35051231;35254053;35385942;36180891;36396431;9528852;9790970", "class_list": "", "function": "Early-Onset Dementia Associated with a Heterozygous, Nonsense, and de novo Variant in the MBD5 Gene., [RefSeq, PubMed]; Germline mosaicism in a family with MBD5 haploinsufficiency. Publication Status: Online-Only, [RefSeq, PubMed]; Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder., [RefSeq, PubMed]; MBD5-related intellectual disability in a Vietnamese child., [RefSeq, PubMed]; Non-catalytic component of the polycomb repressive deubiquitinase (PR-DUB) complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-120' (H2AK119ub1) (PubMed:24634419). Important for stability of PR-DUB components and stimulating its ubiquitinase activity (PubMed:36180891). As part of the PR-DUB complex, associates with chromatin enriched in histone marks H3K4me1, H3K4me3, and H3K27Ac, but not in H3K27me3 (PubMed:36180891). The PR-DUB complex is an epigenetic regulator of gene expression, including genes involved in cell growth and survivability (PubMed:36180891). MBD5 and MBD6 containing complexes associate with distinct chromatin regions enriched in genes involved in different pathways (PubMed:36180891). Heterochromatin recruitment is not mediated by DNA methylation (PubMed:20700456). The PR-DUB complex is an epigenetic regulator of gene expression, including genes involved in development, cell communication, signaling, cell proliferation and cell viability (PubMed:36180891)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a member of the methyl-CpG-binding domain (MBD) family. The MBD consists of about 70 residues and is the minimal region required for a methyl-CpG-binding protein binding specifically to methylated DNA. In addition to the MBD domain, this protein contains a PWWP domain (Pro-Trp-Trp-Pro motif), which consists of 100-150 amino acids and is found in numerous proteins that are involved in cell division, growth and differentiation. Mutations in this gene cause an autosomal dominant type of cognitive disability. The encoded protein interacts with the polycomb repressive complex PR-DUB which catalyzes the deubiquitination of a lysine residue of histone 2A. Haploinsufficiency of this gene is associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. Alternatively spliced transcript variants have been found, but their full-length nature is not determined. [provided by RefSeq, Jul 2017]., [RefSeq]; [Clinical phenotypes and genetic features of epilepsy children with MBD5 gene variants]., [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": 2, "reported_glycation": 0, "reported_snv": 46, "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": "A5HMQ4;A7E2B1;Q53SR1;Q9NUV6", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0070062 extracellular exosome;GO:0005694 chromosome;GO:0010369 chromocenter", "go_biological_process": "GO:0060399 positive regulation of growth hormone receptor signaling pathway;GO:0007399 nervous system development;GO:0040014 regulation of multicellular organism growth;GO:0042593 glucose homeostasis;GO:0050795 regulation of behavior", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q9P267-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60673-1", "uniprot_id": "REV3L_HUMAN", "mass": 352776.0, "length": 3130, "protein_name": "DNA polymerase zeta catalytic subunit", "gene_name": "REV3L", "organism": "Human", "refseq_name": "DNA polymerase zeta catalytic subunit isoform b", "refseq_ac": "NP_001273360", "gene_names_uniprotkb": "REV3L; POLZ; REV3", "gene_names_refseq": "POLZ; REV3L; REV3", "protein_names_uniprotkb": "DNA polymerase zeta catalytic subunit; 2.7.7.7; Protein reversionless 3-like; REV3-like; hREV3", "protein_names_refseq": "DNA polymerase zeta catalytic subunit isoform b; DNA polymerase zeta catalytic subunit; REV3-like, polymerase (DNA directed), zeta, catalytic subunit; Rev-3, yeast, homolog-like (polymerase, DNA, zeta)", "tax_id": 9606, "disease": "", "pathway": " (hsa:5980); (R-HSA-110312); (R-HSA-5655862); (R-HSA-5656121); (R-HSA-5656169)", "pathway_count": 5, "publication_count": 123, "publication_id_list": "10102035;10536157;10660610;10760286;10801132;10856253;10887153;10984059;11006276;11058110;11237011;11485998;11784855;11917024;12145297;12444249;12584190;12952891;14657033;15189446;15199127;15254543;15475561;15657443;16094384;16344468;16357261;16611994;16819516;17043239;17081983;17517887;18242152;18452278;18491316;18767875;19153606;19170759;19492058;19690332;20159559;20164194;20660785;20952260;21143968;21628590;22700975;22721435;22772988;22859295;22859296;23000965;23143872;23186163;23481700;23593430;24449906;24648516;24714562;24768535;25418920;25576301;25645385;25880248;26375851;26728094;26811146;26992070;27600516;27846572;27862975;28218747;28228285;28411811;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29508533;29557506;29632046;29769354;30315122;30379171;30429286;30484775;31217245;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33592498;33912179;33968037;33981976;34171305;34185709;34508659;34509645;34533226;34597596;34655923;34932366;35051231;35580925;36010968;36284347;37938771;39215012;3941892;8658138;8751446;9618506;9925914", "class_list": "", "function": "A sophisticated mechanism governs Pol zeta activity in response to replication stress. Publication Status: Online-Only, [RefSeq, PubMed]; Catalytic subunit of the DNA polymerase zeta complex, an error-prone polymerase specialized in translesion DNA synthesis (TLS). Lacks an intrinsic 3'-5' exonuclease activity and thus has no proofreading function., [UniProtKB, PubMed]; DNA polymerase zeta contributes to heterochromatin replication to prevent genome instability., [RefSeq, PubMed]; REV1-Polzeta maintains the viability of homologous recombination-deficient cancer cells through mutagenic repair of PRIMPOL-dependent ssDNA gaps., [RefSeq, PubMed]; REV3L single nucleotide variants lead to increased susceptibility towards non-small cell lung cancer in the population of Jammu and Kashmir., [RefSeq, PubMed]; The Protexin complex counters resection on stalled forks to promote homologous recombination and crosslink repair., [RefSeq, PubMed]; The protein encoded by this gene represents the catalytic subunit of DNA polymerase zeta, which functions in translesion DNA synthesis. The encoded protein can be found in mitochondria, where it protects DNA from damage. Defects in this gene are a cause of Mobius syndrome. [provided by RefSeq, Jan 2017]., [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": 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": 2, "reported_glycation": 0, "reported_snv": 83, "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": "O43214;Q5TC33", "ec_number_list": "2.7.7.49;3.1.21.-;2.7.7.7;5.6.2.4;2.7.7.31;4.2.99.18;4.2.99.-;3.1.26.4;3.4.23.50;3.1.11.-;2.7.7.102;2.7.7.-", "go_molecular_function": "GO:0003887 DNA-directed DNA polymerase activity;GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0051539 4 iron, 4 sulfur cluster binding;GO:0000166 nucleotide binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0016035 zeta DNA polymerase complex;GO:0090734 site of DNA damage", "go_biological_process": "GO:0071897 DNA biosynthetic process;GO:0000724 double-strand break repair via homologous recombination;GO:0019985 translesion synthesis;GO:0042276 error-prone translesion synthesis;GO:0006261 DNA-templated DNA replication", "synthesized_glycan_count": 0, "hit_score": 12.7, "record_id": "O60673-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5T3U5-1", "uniprot_id": "MRP7_HUMAN", "mass": 161629.0, "length": 1492, "protein_name": "ATP-binding cassette sub-family C member 10", "gene_name": "ABCC10", "organism": "Human", "refseq_name": "ATP-binding cassette sub-family C member 10 isoform MRP7", "refseq_ac": "NP_001185863", "gene_names_uniprotkb": "ABCC10; MRP7; SIMRP7", "gene_names_refseq": "ABCC10; EST182763; MRP7; SIMRP7", "protein_names_uniprotkb": "ATP-binding cassette sub-family C member 10; 7.6.2.2; 7.6.2.3; Multidrug resistance-associated protein 7", "protein_names_refseq": "ATP-binding cassette sub-family C member 10 isoform MRP7; ATP-binding cassette sub-family C member 10; ATP-binding cassette, sub-family C (CFTR/MRP), member 10; multidrug resistance-associated protein 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:89845); (R-HSA-382556)", "pathway_count": 2, "publication_count": 105, "publication_id_list": "10.1101/2023.09.13.557529;10484077;10665657;10748049;11146224;11214971;11237011;11504826;11562789;11812794;12379217;12379510;12403779;12527806;12566991;12604685;1352877;1356264;1359686;1377674;14661924;15175422;15256465;15472518;15863492;15899824;16816140;16901789;17523162;17855752;17894550;17977821;18220336;18282684;18434309;19002207;19447222;19570978;1968359;19862647;1998343;20583968;20621639;22178883;23063411;23087055;24019521;24685677;2475911;25133187;25418920;25576301;25645385;2570070;26208431;26811146;26992070;27846572;27862975;28063628;28132103;28228285;28612064;28832583;28834231;28904123;2898143;29242379;29557506;29632046;30315122;30573663;30890141;31844290;32157095;32350084;32387766;32502341;32938616;32981041;33298915;33563765;33912179;33968037;34171305;34357683;34509645;3457471;3472246;35051231;35307651;35580925;36010968;36241641;36297086;38253038;39894887;7523390;7529176;7553863;7553864;7865904;9652413;9816258;9831708", "class_list": "", "function": "ATP-Binding Cassette Transporter Family C Protein 10 Participates in the Synthesis and Efflux of Hexosylceramides in Liver Cells. Publication Status: Online-Only, [RefSeq, PubMed]; ATP-dependent transporter of the ATP-binding cassette (ABC) family that actively extrudes physiological compounds, and xenobiotics from cells. Lipophilic anion transporter that mediates ATP-dependent transport of glucuronide conjugates such as estradiol-17-beta-o-glucuronide and GSH conjugates such as leukotriene C4 (LTC4) (PubMed:12527806, PubMed:15256465). May regulate the transport of organic compounds in testes across the blood-testis-barrier (Probable). Mediates intercellular propagation of antiviral immune signaling in early stages of infection (By similarity). In RNA virus-infected cells, oligoadenylate synthase senses viral dsRNA and generates 2',5'-oligoadenylates (2-5A) which act as second messengers to activate RNASEL and type I interferon signaling to inhibit viral replication (By similarity). This innate signaling pathway is locally extended and amplified by ABCC10, which exports 2-5A from virus-infected cells to cross-activates RNASEL in uninfected neighboring cells and confers protection against viral infection (By similarity). Mediates multidrug resistance (MDR) in cancer cells by preventing the intracellular accumulation of certain antitumor drugs, such as, docetaxel and paclitaxel (PubMed:15256465, PubMed:23087055). Does not transport glycocholic acid, taurocholic acid, MTX, folic acid, cAMP, or cGMP (PubMed:12527806)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Exosomal Delivery of FTO Confers Gefitinib Resistance to Recipient Cells through ABCC10 Regulation in an m6A-dependent Manner., [RefSeq, PubMed]; First study to describe structure and expression pattern of this transporter., [RefSeq, PubMed]; In the cancer cell lines, only rs2125739 of ABCC10 gene was significantly associated with docetaxel cytotoxicity, and this was confirmed in the genome-edited cell line. In the non-small cell lung cancer (NSCLC) patients, there were no significant differences related to rs2125739 genotype in terms of response rate, progression free and overall survival. However, this SNP was associated with grade 3/4 neutropenia. Publication Status: Online-Only, [RefSeq, PubMed]; It is thus inferred, that ABCC10 expression in CWR22Rv1 cells is not S phase-specific but is primarily associated with cell proliferation., [RefSeq, PubMed]; MRP7 has the facility for mediating the transport of conjugates such as E(2)17betaG indicates that it is a lipophilic anion transporter involved in phase III (cellular extrusion) of detoxification. GeneRIF: First study to describe ABCC10's ability to transport physiological substrates, confirming that this protein, with low identity to ABCC1, was indeed a efflux pump., [RefSeq, PubMed]; The genomic organization and gene expression regulation of human multidrug resistance-associated protein 7 and a splicing variant MRP7A were identified, [RefSeq, PubMed]; The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This ABC full-transporter is a member of the MRP subfamily which is involved in multi-drug resistance. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 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": 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": 26, "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": "Q8NHX7;Q9H7N2;Q9NXY3;Q9UF48", "ec_number_list": "7.6.2.2;7.6.2.-;7.6.2.3;5.6.1.6", "go_molecular_function": "GO:0005524 ATP binding;GO:0042626 ATPase-coupled transmembrane transporter activity;GO:0008559 ABC-type xenobiotic transporter activity;GO:0016887 ATP hydrolysis activity;GO:0015431 ABC-type glutathione S-conjugate transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0005765 lysosomal membrane;GO:0009925 basal plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006869 lipid transport;GO:0045087 innate immune response;GO:0055085 transmembrane transport;GO:0015711 organic anion transport;GO:0006691 leukotriene metabolic process", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "Q5T3U5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NE86-1", "uniprot_id": "MCU_HUMAN", "mass": 39867.0, "length": 351, "protein_name": "Calcium uniporter protein, mitochondrial", "gene_name": "MCU", "organism": "Human", "refseq_name": "calcium uniporter protein, mitochondrial isoform 2 precursor", "refseq_ac": "NP_001257608", "gene_names_uniprotkb": "MCU; C10orf42; CCDC109A", "gene_names_refseq": "C10orf42; CCDC109A; HsMCU; MCU", "protein_names_uniprotkb": "Calcium uniporter protein, mitochondrial; Coiled-coil domain-containing protein 109A; HsMCU", "protein_names_refseq": "calcium uniporter protein, mitochondrial isoform 2 precursor; calcium uniporter protein, mitochondrial; coiled-coil domain-containing protein 109A", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700)", "pathway": " (hsa:90550); (R-HSA-8949215); (R-HSA-8949664)", "pathway_count": 3, "publication_count": 81, "publication_id_list": "11237011;12438411;15904662;17178908;18628306;19797662;20018762;20693986;21685886;21685888;21720385;22605770;22822213;22829870;22904319;23051746;23101630;23178883;23246404;23409044;23481700;23716663;23755363;23900286;24162235;24231807;24332854;24344246;24430870;24503055;24560927;24800979;24898248;25077561;25171321;25254480;25254481;25565209;25603276;25753332;25764156;25892735;26341627;26903221;26976564;27099988;27135929;27184846;27642048;27669901;27737933;28121444;28262504;28510447;29954988;29995857;30454562;30638448;31080062;31097542;31844290;32157095;32488085;32494073;32762847;32862359;33296646;33298915;33592498;33912179;33968037;34171305;34357683;37036971;37126688;38007529;38064106;38599304;38763207;39534244;7399049", "class_list": "", "function": "Association of Biochemical Parameters and Screening for Mutations in the MCU Gene in Alzheimer's Disease Patients. Erratum:[Mol Neurobiol. 2024 Jul;61(7):4129. doi: 10.1007/s12035-024-03929-8. PMID: 38246891], [RefSeq, PubMed]; Channel-forming and calcium-conducting subunit of the mitochondrial inner membrane calcium uniporter complex (uniplex), which mediates calcium uptake into the mitochondrial matrix (PubMed:21685886, PubMed:21685888, PubMed:22822213, PubMed:22829870, PubMed:22904319, PubMed:23101630, PubMed:23178883, PubMed:23755363, PubMed:24332854, PubMed:24560927, PubMed:26341627, PubMed:29954988, PubMed:29995857, PubMed:30454562, PubMed:30638448, PubMed:31080062, PubMed:32494073, PubMed:32762847, PubMed:33296646, PubMed:37036971, PubMed:37126688). MCU channel activity is regulated by the calcium-sensor subunits of the uniplex MICU1 and MICU2 (or MICU3) (PubMed:24560927, PubMed:26903221, PubMed:30454562, PubMed:30638448, PubMed:32494073, PubMed:32762847, PubMed:37036971, PubMed:37126688). Mitochondrial calcium homeostasis plays key roles in cellular physiology and regulates ATP production, cytoplasmic calcium signals and activation of cell death pathways (PubMed:21685886, PubMed:21685888, PubMed:22822213, PubMed:22829870, PubMed:22904319, PubMed:23101630, PubMed:23178883, PubMed:23755363, PubMed:24332854, PubMed:24560927, PubMed:26341627, PubMed:29954988, PubMed:32494073, PubMed:32762847). Involved in buffering the amplitude of systolic calcium rises in cardiomyocytes (PubMed:22822213). While dispensable for baseline homeostatic cardiac function, acts as a key regulator of short-term mitochondrial calcium loading underlying a 'fight-or-flight' response during acute stress: acts by mediating a rapid increase of mitochondrial calcium in pacemaker cells (PubMed:25603276). Participates in mitochondrial permeability transition during ischemia-reperfusion injury (By similarity). Mitochondrial calcium uptake in skeletal muscle cells is involved in muscle size in adults (By similarity). Regulates synaptic vesicle endocytosis kinetics in central nerve terminal (By similarity). Regulates glucose-dependent insulin secretion in pancreatic beta-cells by regulating mitochondrial calcium uptake (PubMed:22829870, PubMed:22904319). Involved in antigen processing and presentation (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Functional characterization of the MCU protein; shows that it is necessary for mitochondrial calcium uptake. Publication Status: Online-Only, [RefSeq, PubMed]; MCU inhibition protects against intestinal ischemia-reperfusion by inhibiting Drp1-dependent mitochondrial fission., [RefSeq, PubMed]; MCU is an oligomeric protein residing in the mitochondrial inner membrane that interacts with MICU1 and is necessary for mitochondrial calcium uniport. Publication Status: Online-Only, [RefSeq, PubMed]; Mitochondrial inner membrane calcium uniporter that mediates calcium uptake into mitochondria. Mitochondrial calcium homeostasis plays key roles in cellular physiology and regulates cell bioenergetics, cytoplasmic calcium signals and activation of cell death pathways., [UniProtKB, UniProtKB]; Mrs2-mediated mitochondrial magnesium uptake is essential for the regulation of MCU-mediated mitochondrial Ca[2+] uptake and viability., [RefSeq, PubMed]; Negative modulation of mitochondrial calcium uniporter complex protects neurons against ferroptosis. 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": 2, "reported_mutagensis": 49, "reported_glycation": 0, "reported_snv": 1, "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": "B2RDF3;B3KXV7;Q96FL3", "ec_number_list": "2.7.11.1", "go_molecular_function": "GO:0005262 calcium channel activity;GO:0042802 identical protein binding;GO:0015292 uniporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0034704 calcium channel complex;GO:1990246 uniplex complex", "go_biological_process": "GO:0019722 calcium-mediated signaling;GO:0032024 positive regulation of insulin secretion;GO:0043065 positive regulation of apoptotic process;GO:0051259 protein complex oligomerization;GO:0042593 glucose homeostasis", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "Q8NE86-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86WG5-1", "uniprot_id": "MTMRD_HUMAN", "mass": 208464.0, "length": 1849, "protein_name": "Myotubularin-related protein 13", "gene_name": "SBF2", "organism": "Human", "refseq_name": "myotubularin-related protein 13 isoform 2", "refseq_ac": "NP_112224", "gene_names_uniprotkb": "SBF2; CMT4B2; KIAA1766; MTMR13", "gene_names_refseq": "CMT4B2; DENND7B; MTMR13; SBF2", "protein_names_uniprotkb": "Myotubularin-related protein 13; Inactive phosphatidylinositol 3-phosphatase 13; SET-binding factor 2", "protein_names_refseq": "DENN/MADD domain containing 7B; inactive phosphatidylinositol 3-phosphatase 13; myotubularin-related protein 13 isoform 2; myotubularin-related protein 13", "tax_id": 9606, "disease": "Charcot-Marie-Tooth disease type 4B2 (Disease Ontology:DOID:0110190); familial apolipoprotein C-II deficiency (Disease Ontology:DOID:0111418); familial hyperlipidemia (Disease Ontology:DOID:1168); nephrotic syndrome (Disease Ontology:DOID:1184); hypobetalipoproteinemia (Disease Ontology:DOID:1390); epilepsy (Disease Ontology:DOID:1826); multiple sclerosis (Disease Ontology:DOID:2377); hepatocellular carcinoma (Disease Ontology:DOID:684); end stage renal disease (Disease Ontology:DOID:783); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:81846); (R-HSA-1660499); (R-HSA-8876198)", "pathway_count": 3, "publication_count": 310, "publication_id_list": "10194451;10224048;10555148;10559940;10593988;10753883;10805725;10818110;10822173;10990452;11001876;11038176;11084340;11179213;11237011;11279162;11302699;11349134;11516400;11604140;11676921;11689439;11703925;11733541;11746448;11784320;11877430;11917121;11923287;12058051;12101241;12118066;12221131;12244319;12324459;12364329;12422219;12427552;12475894;12536145;12554688;12646134;12684051;12687498;12808147;12847086;12944476;12972505;14516276;14617813;14660569;15080793;15096524;15107860;15135396;15138286;1516130;15247254;15304601;15388334;15464023;15477569;15528189;15561770;15692570;15716355;15797027;15840652;15878329;15914536;15958533;15998640;16154996;16207721;16373702;16399794;16410077;16476736;16522682;16525024;16525121;16571673;16641372;16754960;16880209;16914545;16950109;16979564;17008356;17043139;17132146;17189207;17208202;17239822;17245604;17287728;17488286;17562788;17574030;17646400;17651088;17671165;17678623;18076383;18093523;18094055;18354496;18367545;1845915;18477474;18559336;18585354;18664496;18669648;18701652;18753295;18779367;18804435;1900457;19038970;19109890;19345684;19403694;19490898;19620288;19656848;19725050;19729655;19745841;19896968;20008558;20068231;20154091;20159109;20159556;20305638;20308558;20404108;20434987;20534812;20592283;20797862;20851765;20937701;21041651;2115402;21183348;21187289;21204784;21216617;21273506;21330364;21421921;21445324;21458671;21532587;21554507;21586568;21683469;21706022;21718402;21776405;21951725;22013193;22037487;22065758;22072793;22171327;22365832;22433857;22511774;22581368;22595670;22622570;22647598;22648168;22653444;22705394;22762500;22908308;22983554;23084991;23091056;23147242;23176487;23176493;23186163;23220125;23239882;23247405;23263280;23295650;23333653;23351085;23357852;23378591;23420520;23444368;23478338;23519112;23645161;23678941;23684622;23713133;23758345;23839779;24296415;24644286;24694596;24715725;24719330;24891604;24917561;24967941;25074980;25341920;25343031;25472813;25495341;25576301;25645385;25648148;25713415;25925668;26055712;26177209;26245486;26434594;26538022;26811146;26925400;26936971;26992070;27041585;27044746;27103185;27246931;27329675;27732968;27846572;28514659;28834231;28904123;29242379;29393594;29557506;29786170;30429286;30484775;30524438;30779550;30833945;31154438;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32502341;32897882;32938616;33537174;33592498;33968037;33981976;34185709;34405274;34718573;34986146;35051231;35580925;36010968;36241641;36284347;37938771;7608176;7624799;7688123;7911226;8144603;8408203;8522602;8681945;8723348;8769125;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": "Guanine nucleotide exchange factor (GEF) which activates RAB21 and possibly RAB28 (PubMed:20937701, PubMed:25648148). Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form (PubMed:20937701, PubMed:25648148). In response to starvation-induced autophagy, activates RAB21 which in turn binds to and regulates SNARE protein VAMP8 endolysosomal transport required for SNARE-mediated autophagosome-lysosome fusion (PubMed:25648148). Acts as an adapter for the phosphatase MTMR2 (By similarity). Increases MTMR2 catalytic activity towards phosphatidylinositol 3,5-bisphosphate and to a lesser extent towards phosphatidylinositol 3-phosphate (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; Mutations in MTMR13 were associated with a syndrome of demyelinating Charcot-Marie-Tooth disease and early onset glaucoma; MTMR13 may be important for the development of both the peripheral nerves and the trabeculum meshwork, [RefSeq, PubMed]; Rare variants in SBF2 predict an increased risk of taxane-induced peripheral neuropathy in African American breast cancer patients receiving paclitaxel., [RefSeq, PubMed]; Starvation-induced MTMR13 and RAB21 activity regulates VAMP8 to promote autophagosome-lysosome fusion., [RefSeq, PubMed]; The impact of SBF2 on taxane-induced peripheral neuropathy. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2. [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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 43, "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": "Q3MJF0;Q68DQ3;Q6P459;Q6PJD1;Q7Z325;Q7Z621;Q86VE2;Q96FE2;Q9C097", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0035091 phosphatidylinositol binding;GO:0019902 phosphatase binding;GO:0019208 phosphatase regulator activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0030424 axon;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0042552 myelination;GO:0006914 autophagy", "synthesized_glycan_count": 0, "hit_score": 31.1, "record_id": "Q86WG5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96JY0-1", "uniprot_id": "MAEL_HUMAN", "mass": 49219.0, "length": 434, "protein_name": "Protein maelstrom homolog", "gene_name": "MAEL", "organism": "Human", "refseq_name": "protein maelstrom homolog isoform 2", "refseq_ac": "NP_001273306", "gene_names_uniprotkb": "MAEL", "gene_names_refseq": "CT128; MAEL; SPATA35", "protein_names_uniprotkb": "Protein maelstrom homolog", "protein_names_refseq": "cancer/testis antigen 128; protein maelstrom homolog isoform 2; protein maelstrom homolog; spermatogenesis associated 35; testicular tissue protein Li 116", "tax_id": 9606, "disease": "", "pathway": " (hsa:84944); (R-HSA-5601884)", "pathway_count": 2, "publication_count": 19, "publication_id_list": "11237011;18922463;19064610;19536175;19693694;21465557;22233380;23056369;23826142;23980886;24656595;24714562;24715725;33902648;35051231;35488386;35513870;36779514;38301040", "class_list": "", "function": "Identification of MAEL as a promoter for the drug resistance model of iPSCs derived from T-ALL., [RefSeq, PubMed]; MAEL as a diagnostic marker for the early detection of esophageal squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; MAEL in human cancers and implications in prognostication and predicting benefit from immunotherapy over VEGFR/mTOR inhibitors in clear cell renal cell carcinoma: a bioinformatic analysis., [RefSeq, PubMed]; Maelstrom promotes tumor metastasis through regulation of FGFR4 and epithelial-mesenchymal transition in epithelial ovarian cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Its association with piP-bodies suggests a participation in the secondary piRNAs metabolic process. Required for the localization of germ-cell factors to the meiotic nuage (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The MAEL expression in mitochondria of human spermatozoa and the association with asthenozoospermia., [RefSeq, PubMed]; These results suggest that MAEL is a novel cancer/testis-associated gene and is regulated by DNA methylation., [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": 14, "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": "B4DY43;E9JVC3;Q49AP9;Q5VZP8;Q9UIW6", "ec_number_list": "", "go_molecular_function": "GO:0043565 sequence-specific DNA binding;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0048471 perinuclear region of cytoplasm;GO:0000785 chromatin;GO:0001741 XY body", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0060964 regulation of miRNA-mediated gene silencing;GO:0045892 negative regulation of DNA-templated transcription;GO:0007140 male meiotic nuclear division", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q96JY0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H089-1", "uniprot_id": "LSG1_HUMAN", "mass": 75225.0, "length": 658, "protein_name": "Large subunit GTPase 1 homolog", "gene_name": "LSG1", "organism": "Human", "refseq_name": "large subunit GTPase 1 homolog", "refseq_ac": "NP_060855", "gene_names_uniprotkb": "LSG1", "gene_names_refseq": "LSG1", "protein_names_uniprotkb": "Large subunit GTPase 1 homolog; 3.6.5.-; hLsg1", "protein_names_refseq": "hLsg1; large subunit GTPase 1 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:55341)", "pathway_count": 1, "publication_count": 74, "publication_id_list": "11230166;11237011;16209721;18212344;18669648;20068231;22645359;23186163;23481700;24714562;24715725;25418920;25576301;25892735;26375851;26728094;26992070;27600516;27846572;27862975;27920218;28218747;28228285;28510447;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30379171;30410026;30429286;30779550;31148378;31154438;31217245;31530632;31844290;32157095;32265295;32350084;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33717175;33912179;33968037;33981976;34087483;34171305;34357683;34932366;35051231;35580925;36010968;36215666;36241641;37217939;38665916;39133101", "class_list": "", "function": "Functions as a GTPase (PubMed:16209721). May act by mediating the release of NMD3 from the 60S ribosomal subunit after export into the cytoplasm during the 60S ribosomal subunit maturation (PubMed:31148378)., [UniProtKB, PubMed, PubMed]; Functions as a GTPase. May act by mediating the release of NMD3 from the 60S ribosomal subunit after export into the cytoplasm during the 60S ribosomal subunit maturation., [UniProtKB, UniProtKB]; HLsg1 is an essential GTPase predominantly located in the endoplasmic reticulum and, in some cells, in Cajal bodies in the nucleus. Publication Status: Online-Only, [RefSeq, PubMed]; Targeting of LSG1 resulted in amplification of the cholesterol/endoplasmic reticular signature and restoration of a robust cellular senescence response in transformed cells, suggesting potential therapeutic uses of LSG1 inhibition., [RefSeq, PubMed]; The Ribosome Assembly Factor LSG1 Interacts with Vesicle-Associated Membrane Protein-Associated Proteins (VAPs)., [RefSeq, PubMed]; This gene encodes a protein related to the yeast large subunit GTPase 1. The encoded protein is necessary for cell viability and may localize in the endoplasmic reticulum, nucleus and cytoplasm.[provided by RefSeq, Feb 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": 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": 14, "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": "A0JLT4;A0PJK3;A6NI18;Q7L9H8;Q9NUK8", "ec_number_list": "3.6.5.-;3.6.5.2;3.6.5.3;3.6.5.5;3.6.1.5;3.6.1.-;3.6.5.4;2.7.11.1;3.6.-.-;3.6.1.15;3.6.1.6;3.6.1.42", "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0016020 membrane;GO:0016604 nuclear body", "go_biological_process": "GO:0015031 protein transport;GO:0000054 ribosomal subunit export from nucleus;GO:0051168 nuclear export", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q9H089-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NFX1-1", "uniprot_id": "MFS2B_HUMAN", "mass": 53743.0, "length": 504, "protein_name": "Sphingosine-1-phosphate transporter MFSD2B", "gene_name": "MFSD2B", "organism": "Human", "refseq_name": "sphingosine-1-phosphate transporter MFSD2B", "refseq_ac": "NP_001333809", "gene_names_uniprotkb": "MFSD2B", "gene_names_refseq": "MFSD2B; SLC59A2", "protein_names_uniprotkb": "Sphingosine-1-phosphate transporter MFSD2B; Major facilitator superfamily domain-containing protein 2B; hMfsd2b", "protein_names_refseq": "S1P transporter; hMfsd2b; major facilitator superfamily domain containing 2B; major facilitator superfamily domain-containing protein 2b; sphingosine 1-phosphate transporter; sphingosine-1-phosphate transporter MFSD2B", "tax_id": 9606, "disease": "", "pathway": " (hsa:388931); (R-HSA-1660661)", "pathway_count": 2, "publication_count": 66, "publication_id_list": "10722674;10751414;10802064;10947957;11237011;11937514;14685229;14685263;14976195;15063729;15328338;15337768;16100120;16118219;16571669;16793762;16895911;17023427;17050692;17331073;17355976;17449912;17591919;17982138;18165232;18165233;18184806;18694395;19005213;19233134;19416851;19506037;20061445;20110355;20182505;21620961;22517924;22970244;23180825;23602659;23754960;24569996;24782409;25788259;27862975;28228285;28411811;28575652;29045386;29557506;29563527;31844290;31895563;34087483;35051231;35409383;36902339;36907437;37100836;37224812;37390971;4339164;4817756;9188692;9312549;9363775", "class_list": "", "function": "An erythrocyte-centric view on the MFSD2B sphingosine-1-phosphate transporter. Review article, [RefSeq, PubMed]; Lipid transporter that specifically mediates export of sphingosine-1-phosphate in red blood cells and platelets (PubMed:29045386). Sphingosine-1-phosphate is a signaling sphingolipid and its export from red blood cells into in the plasma is required for red blood cell morphology (By similarity). Sphingosine-1-phosphate export from platelets is required for platelet aggregation and thrombus formation (By similarity). Mediates the export of different sphingosine-1-phosphate (S1P) species, including S1P(d18:0) (sphinganine 1-phosphate), S1P (d18:1) (sphing-4-enine 1-phosphate) and S1P (d18:2) (sphinga-4E,14Z-dienine-1-phosphate) (Probable). Release of sphingosine-1-phosphate is facilitated by a proton gradient (By similarity). In contrast, cations, such as sodium, are not required to drive sphingosine-1-phosphate transport (Probable). In addition to export, also able to mediate S1P import (By similarity). Does not transport lysophosphatidylcholine (LPC) (Probable)., [UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; Results identify Mfsd2a (major facilitator superfamily domain-containing protein 2a) and an additional closely related protein Mfsd2b, and suggest that Mfsd2a plays a role in adaptive thermogenesis., [RefSeq, PubMed]; Revealing concealed cardioprotection by platelet Mfsd2b-released S1P in human and murine myocardial infarction. Publication Status: Online-Only, [RefSeq, PubMed]; Using microarray analysis of erythroid cell lines overexpressing human and mouse MFSD2B study showed sphingosine 1-phosphate (S1P) transport activity. The properties of S1P release by MFSD2B were similar to those in erythrocytes. Moreover, knockout of MFSD2B in MEDEP-E14 cells decreased S1P export from the cells. These results strongly suggest that MFSD2B is a novel S1P transporter in erythroid cells. 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": 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": "B5MC32;J3KNU6", "ec_number_list": "", "go_molecular_function": "GO:0015293 symporter activity;GO:0046624 sphingolipid transporter activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0003376 sphingosine-1-phosphate receptor signaling pathway;GO:0006869 lipid transport;GO:0055085 transmembrane transport;GO:0030148 sphingolipid biosynthetic process;GO:0008643 carbohydrate transport", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "A6NFX1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96DR8-1", "uniprot_id": "MUCL1_HUMAN", "mass": 9039.0, "length": 90, "protein_name": "Mucin-like protein 1", "gene_name": "MUCL1", "organism": "Human", "refseq_name": "mucin-like protein 1 precursor", "refseq_ac": "NP_477521", "gene_names_uniprotkb": "MUCL1; PRO1160; SBEM", "gene_names_refseq": "MUCL1; SBEM", "protein_names_uniprotkb": "Mucin-like protein 1; Protein BS106; Small breast epithelial mucin", "protein_names_refseq": "mucin-like protein 1 precursor; mucin-like protein 1; small breast epithelial mucin", "tax_id": 9606, "disease": "", "pathway": " (hsa:118430); (R-HSA-5083625); (R-HSA-5083632); (R-HSA-5083636); (R-HSA-5621480); (R-HSA-913709); (R-HSA-977068)", "pathway_count": 7, "publication_count": 79, "publication_id_list": "10330415;10430883;10504389;10742600;10753916;11042166;11062056;11110698;11237011;11283017;11304796;11606584;11821425;12019145;12464682;12595743;12855678;12975309;1329093;14656219;15096563;15340161;15466199;15486459;15560372;15599692;15620693;15684711;15687324;15880534;16151858;16251947;16319059;16720387;17050534;17113861;18490740;18537974;18776906;18818202;19617566;21880719;22041900;22183981;22461326;23053572;23507963;23602766;2373995;24643043;25153226;26374642;29786170;30524438;31154438;31844290;32387766;32627029;32938616;34171305;34211107;34545566;35051231;35059735;35318648;37477531;7655172;8333853;8598452;8611500;8920913;8972730;9042338;9295285;9394011;9417100;9435216;9915862;9988682", "class_list": "", "function": "Identification as possible new breast tumor biomarker, [RefSeq, PubMed]; May play a role as marker for the diagnosis of metastatic breast cancer., [UniProtKB, PubMed, PubMed, PubMed]; MiRNA-186-5p inhibits migration, invasion and proliferation of breast cancer cells by targeting SBEM., [RefSeq, PubMed]; Octamer-binding transcription factors participate in the strong expression of SBEM gene in breast tissues Publication Status: Online-Only, [RefSeq, PubMed]; Small breast epithelial mucin promotes the invasion and metastasis of breast cancer cells via promoting epithelialtomesenchymal transition., [RefSeq, PubMed]; Targeting MUCL1 protein inhibits cell proliferation and EMT by deregulating betacatenin and increases irinotecan sensitivity in colorectal cancer., [RefSeq, PubMed]; The mucin protein MUCL1 regulates melanogenesis and melanoma genes in a manner dependent on threonine content., [RefSeq, PubMed]", "predicted_glycosites": 17, "predicted_n_glycosites": 0, "predicted_o_glycosites": 17, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 17, "binding_glycan_count": 0, "secondary_ac_list": "Q0VG95;Q32ZB5", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005796 Golgi lumen;GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "Q96DR8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60244-1", "uniprot_id": "MED14_HUMAN", "mass": 160607.0, "length": 1454, "protein_name": "Mediator of RNA polymerase II transcription subunit 14", "gene_name": "MED14", "organism": "Human", "refseq_name": "mediator of RNA polymerase II transcription subunit 14", "refseq_ac": "NP_004220", "gene_names_uniprotkb": "MED14; ARC150; CRSP2; CXorf4; DRIP150; EXLM1; RGR1; TRAP170", "gene_names_refseq": "CRSP150; CRSP2; CSRP; CXorf4; DRIP150; EXLM1; MED14; RGR1; TRAP170", "protein_names_uniprotkb": "Mediator of RNA polymerase II transcription subunit 14; ARC150; Activator-recruited cofactor 150 kDa component; CRSP complex subunit 2; Cofactor required for Sp1 transcriptional activation subunit 2; DRIP150; Mediator complex subunit 14; RGR1 homolog; Thyroid hormone receptor-associated protein complex 170 kDa component; Transcriptional coactivator CRSP150; Trap170; Vitamin D3 receptor-interacting protein complex 150 kDa component; hRGR1", "protein_names_refseq": "ARC150; CRSP complex subunit 2; RGR1 homolog; activator-recruited cofactor 150 kDa component; cofactor required for Sp1 transcriptional activation, subunit 2 (150kD); hRGR1; human homolog of yeast RGR1; mediator of RNA polymerase II transcription subunit 14; thyroid hormone receptor-associated protein complex 170 kDa component; thyroid hormone receptor-associated protein complex component TRAP170; transcriptional co-activator CRSP150; vitamin D receptor-interacting protein complex component DRIP150; vitamin D3 receptor-interacting protein complex 150 kDa component", "tax_id": 9606, "disease": "keratoconus (Disease Ontology:DOID:10126); retinitis pigmentosa (Disease Ontology:DOID:10584); Huntington's disease (Disease Ontology:DOID:12858); disease of mental health (Disease Ontology:DOID:150); glaucoma (Disease Ontology:DOID:1686); multiple sclerosis (Disease Ontology:DOID:2377); hyperglycemia (Disease Ontology:DOID:4195); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:9282); (R-HSA-1989781); (R-HSA-212436); (R-HSA-381340); (R-HSA-9833110); (R-HSA-9841922)", "pathway_count": 6, "publication_count": 191, "publication_id_list": "10.1101/2023.09.13.557529;10024883;10075656;10235266;10235267;10330177;10425206;10558993;10777541;10835357;10882139;11027271;11095972;11237011;11267664;11395415;11607032;11867769;11872672;12118000;12177166;12213831;12218053;12505311;12509459;12582161;12829629;1310260;14519192;14976261;15067378;15130092;15175151;15175163;15273253;15302935;15340088;15625066;15635043;15850785;15896744;15919796;15989967;16380219;16595664;16606702;16719718;16959974;16972786;17011499;17081983;17761950;17980149;18420935;18452278;18540824;18669648;18691976;18719978;18848529;18931025;19043829;19088433;19115207;19172745;19369195;19690332;19710929;19934321;20068231;20101261;20110263;20410276;2163759;22090124;22645359;23186163;23239344;23481700;24049075;24196956;24366607;24715725;25383669;25418920;25576301;25645385;25854864;25880248;25892735;26154972;26375851;26992070;27846572;27862975;27920218;28218747;28228285;28514659;28813667;28832583;28834231;28855257;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30379171;30410026;30429286;30484775;30779550;30833945;31092671;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33329381;33392160;33592498;33633747;33717175;33912179;33936100;33968037;33981976;34019948;34171305;34211107;34561969;34932366;35051231;35318648;35494241;35561310;35580925;36010968;36102648;36241641;36284347;37217939;37938771;38665916;40596516;7685352;7892212;8183939;8325954;8521497;8521498;8643605;8647822;8706692;8769649;8770873;8970730;9012850;9065481;9171241;9454824;9598311;9637681;9653119;9734358;9744270;9748239;9836620;9989412", "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, PubMed, PubMed, PubMed]; Functional analysis implicates TNRC6A, NAT10, MED14, and WDR5 in RNA-mediated transcriptional activation., [RefSeq, PubMed]; The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. This protein contains a bipartite nuclear localization signal. This gene is known to escape chromosome X-inactivation. [provided by RefSeq, Jul 2008]., [RefSeq]; This results from a dramatically enhanced ability of MED14-containing complexes to associate with Pol II., [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": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 8, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q4KMR7;Q9UNB3", "ec_number_list": "", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0003712 transcription coregulator activity;GO:0042809 nuclear vitamin D receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016020 membrane;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:0045944 positive regulation of transcription by RNA polymerase II;GO:0045893 positive regulation of DNA-templated transcription;GO:0032968 positive regulation of transcription elongation by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 19.7, "record_id": "O60244-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N5U1-1", "uniprot_id": "M4A15_HUMAN", "mass": 25050.0, "length": 240, "protein_name": "Membrane-spanning 4-domains subfamily A member 15", "gene_name": "MS4A15", "organism": "Human", "refseq_name": "membrane-spanning 4-domains subfamily A member 15 isoform 1", "refseq_ac": "NP_001092305", "gene_names_uniprotkb": "MS4A15", "gene_names_refseq": "MS4A15", "protein_names_uniprotkb": "Membrane-spanning 4-domains subfamily A member 15", "protein_names_refseq": "membrane-spanning 4-domains subfamily A member 15 isoform 1; membrane-spanning 4-domains subfamily A member 15", "tax_id": 9606, "disease": "", "pathway": " (hsa:219995)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;24715725;29557506;34171305;35051231;35151203", "class_list": "", "function": "MS4A15 acts as an oncogene in ovarian cancer through reprogramming energy metabolism., [RefSeq, PubMed]; May be involved in signal transduction as a component of a multimeric receptor 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": 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": "A9UJY6;A9UJY7;F2Z2J5", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8N5U1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NAN2-1", "uniprot_id": "MIGA1_HUMAN", "mass": 71006.0, "length": 632, "protein_name": "Mitoguardin 1", "gene_name": "MIGA1", "organism": "Human", "refseq_name": "mitoguardin 1 isoform 2", "refseq_ac": "NP_001257313", "gene_names_uniprotkb": "MIGA1; FAM73A", "gene_names_refseq": "FAM73A; MIGA1", "protein_names_uniprotkb": "Mitoguardin 1; Protein FAM73A", "protein_names_refseq": "family with sequence similarity 73, member A; mitoguardin 1 isoform 2; protein FAM73A", "tax_id": 9606, "disease": "", "pathway": " (hsa:374986); (R-HSA-1483166)", "pathway_count": 2, "publication_count": 78, "publication_id_list": "10455175;10506173;10553003;10681567;11031251;11112443;11237011;11788596;11830583;12063250;12161451;12359733;12522102;12963729;14573790;15367102;16460752;16495223;16620771;16704971;16864775;17028579;17170135;17707131;18238778;18718904;19336658;19666841;20705608;21173190;22777291;22922100;23176821;23176823;23807634;24966474;25576301;26154972;26711011;26992070;27846572;28904123;2925608;29493099;29557506;31844290;32157095;32357974;32387766;32488085;32897882;32938616;33392160;33537174;33592498;33912179;33968037;34171305;34357683;34509645;3458202;35051231;35580925;36010968;36215666;36241641;36284347;7060561;7821823;8163052;8186247;8300559;8530346;8687421;9188469;9212163;9461603;9582313", "class_list": "", "function": "Propose that MIGA proteins promote mitochondrial fusion by regulating mitochondrial phospholipid metabolism via MitoPLD., [RefSeq, PubMed]; Regulator of mitochondrial fusion: acts by forming homo- and heterodimers at the mitochondrial outer membrane and facilitating the formation of PLD6/MitoPLD dimers. May act by regulating phospholipid metabolism via PLD6/MitoPLD., [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": 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": "Q6MZG0", "ec_number_list": "", "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005886 plasma membrane", "go_biological_process": "GO:0008053 mitochondrial fusion", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q8NAN2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UKI8-1", "uniprot_id": "TLK1_HUMAN", "mass": 86700.0, "length": 766, "protein_name": "Serine/threonine-protein kinase tousled-like 1", "gene_name": "TLK1", "organism": "Human", "refseq_name": "serine/threonine-protein kinase tousled-like 1 isoform 2", "refseq_ac": "NP_001130026", "gene_names_uniprotkb": "TLK1; KIAA0137", "gene_names_refseq": "PKU-beta; TLK1", "protein_names_uniprotkb": "Serine/threonine-protein kinase tousled-like 1; 2.7.11.1; PKU-beta; Tousled-like kinase 1", "protein_names_refseq": "SNARE protein kinase SNAK; serine threonine protein kinase; serine/threonine-protein kinase tousled-like 1 isoform 2; serine/threonine-protein kinase tousled-like 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9874)", "pathway_count": 1, "publication_count": 74, "publication_id_list": "10.1101/2023.09.13.557529;10523312;10588641;11237011;11314006;11470414;12660173;12955071;17081983;17344846;18452278;18669648;18767875;19664994;19664995;19690332;20068231;20581459;23186163;25505266;25645385;25880248;26154972;26992070;27846572;27920218;28218747;28228285;28832583;28834231;28855257;28904123;29242379;29331515;29393594;29557506;29632046;29786170;29955062;30315122;30429286;31092671;31154438;31530632;31844290;31848261;32157095;32161166;32265295;32357974;32502341;32897882;32938616;32983136;33298915;33323470;33592498;33717175;33912179;33936100;33968037;33981976;34171305;34932366;35051231;35494241;35580925;36010968;36947060;37462140;37686173;38253038;38498025;9427565", "class_list": "", "function": "CircTLK1 alleviates oxygen-glucose deprivation/reperfusion induced apoptosis in HK-2 cells through miR-136-5p/Bcl2 signal axis., [RefSeq, PubMed]; Rapidly and transiently inhibited by phosphorylation following the generation of DNA double-stranded breaks during S-phase. This is cell cycle checkpoint and ATM-pathway dependent and appears to regulate processes involved in chromatin assembly. Isoform 3 phosphorylates and enhances the stability of the t-SNARE SNAP23, augmenting its assembly with syntaxin. Isoform 3 protects the cells from the ionizing radiation by facilitating the repair of DSBs. In vitro, phosphorylates histone H3 at 'Ser-10'., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The TLK-ASF1 histone chaperone pathway plays a critical role in IL-1beta-mediated AML progression., [RefSeq, PubMed]; The interaction between ASF1B and TLK1 promotes the malignant progression of low-grade glioma., [RefSeq, PubMed]; The protein encoded by this gene is a serine/threonine kinase that may be involved in the regulation of chromatin assembly. The encoded protein is only active when it is phosphorylated, and this phosphorylation is cell cycle-dependent, with the maximal activity of this protein coming during S phase. The catalytic activity of this protein is diminished by DNA damage and by blockage of DNA replication. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]., [RefSeq]; Untousling the Role of Tousled-like Kinase 1 in DNA Damage Repair. Review article 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": 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": 17, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 18, "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": "B3KR15;B4DX87;Q14150;Q8N591;Q9NYH2;Q9Y4F6", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "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:0005654 nucleoplasm", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0006886 intracellular protein transport;GO:0007059 chromosome segregation;GO:0035556 intracellular signal transduction;GO:0006974 DNA damage response", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q9UKI8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NCY6-1", "uniprot_id": "MSD4_HUMAN", "mass": 41150.0, "length": 345, "protein_name": "Myb/SANT-like DNA-binding domain-containing protein 4", "gene_name": "MSANTD4", "organism": "Human", "refseq_name": "myb/SANT-like DNA-binding domain-containing protein 4", "refseq_ac": "NP_001305676", "gene_names_uniprotkb": "MSANTD4; DC25; KIAA1826", "gene_names_refseq": "KIAA1826; MSANTD4", "protein_names_uniprotkb": "Myb/SANT-like DNA-binding domain-containing protein 4; Myb/SANT-like DNA-binding domain containing 4 with coiled-coils", "protein_names_refseq": "Myb/SANT-like DNA-binding domain containing 4 with coiled-coils; myb/SANT-like DNA-binding domain-containing protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:84437)", "pathway_count": 1, "publication_count": 50, "publication_id_list": "11237011;16565220;18220336;18452278;22645359;23481700;25418920;25755297;26024233;26154972;26375851;26992070;27846572;27920218;28228285;28649982;28832583;28834231;28904123;29242379;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30429286;31154438;31530632;31844290;32157095;32161166;32265295;32350084;32488085;32502341;32938616;33141586;33298915;33592498;33968037;34171305;34185709;34433824;34932366;35051231;35580925;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": 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": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q96JK1;Q96JZ3;Q9H2N4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q8NCY6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96A32-1", "uniprot_id": "MYL11_HUMAN", "mass": 19015.0, "length": 169, "protein_name": "Myosin regulatory light chain 11", "gene_name": "MYL11", "organism": "Human", "refseq_name": "myosin regulatory light chain 11", "refseq_ac": "NP_001311387", "gene_names_uniprotkb": "MYL11; HSRLC; MYLPF", "gene_names_refseq": "DA1C; HUMMLC2B; MLC2B; MRLC2; MYL11; MYLPF", "protein_names_uniprotkb": "Myosin regulatory light chain 11; Fast skeletal myosin light chain 2; MLC2B; Myosin light chain 11; Myosin regulatory light chain 2, skeletal muscle isoform", "protein_names_refseq": "fast skeletal myosin light chain 2; myosin light chain, phosphorylatable, fast skeletal muscle; myosin regulatory light chain 11; myosin, light chain 11, regulatory", "tax_id": 9606, "disease": "hypertrophic cardiomyopathy 10 (Disease Ontology:DOID:0110316); distal arthrogryposis type 1A (Disease Ontology:DOID:0111597); distal arthrogryposis type 1C (Disease Ontology:DOID:0112190)", "pathway": " (hsa:29895); (R-HSA-445355)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "10991994;11237011;11242081;11457814;11532985;11889009;12048254;14506282;14627618;14756420;15377279;156362;17055381;18974361;1930128;19380584;20068231;22421042;22778174;23719902;23834404;24872348;2526655;25576301;26362469;2764880;27679490;28741090;29557506;31844290;32707087;33592498;35580925;3780718;37938771;8858389;9481611;9598563;9600334;9855623", "class_list": "", "function": "A cDNA clone encoding human fast skeletal myosin regulatory light chain (HSRLC) has been isolated and characterized from a fetal muscle cDNA library., [RefSeq, PubMed]; Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis., [RefSeq, PubMed]; Myosin regulatory subunit that plays an essential role to maintain muscle integrity during early development (By similarity). Plays a role in muscle contraction (By similarity)., [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": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A024QZG6;B2RA83;Q14843;Q6IB41", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0008307 structural constituent of muscle", "go_cellular_component": "GO:0005859 muscle myosin complex;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0006936 muscle contraction;GO:0033275 actin-myosin filament sliding;GO:0007519 skeletal muscle tissue development;GO:0060415 muscle tissue morphogenesis", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q96A32-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IUX1-1", "uniprot_id": "T126B_HUMAN", "mass": 25943.0, "length": 230, "protein_name": "Complex I assembly factor TMEM126B, mitochondrial", "gene_name": "TMEM126B", "organism": "Human", "refseq_name": "complex I assembly factor TMEM126B, mitochondrial isoform c", "refseq_ac": "NP_001180467", "gene_names_uniprotkb": "TMEM126B; HT007", "gene_names_refseq": "HT007; MC1DN29; TMEM126B", "protein_names_uniprotkb": "Complex I assembly factor TMEM126B, mitochondrial; Transmembrane protein 126B", "protein_names_refseq": "complex I assembly factor TMEM126B, mitochondrial isoform c; complex I assembly factor TMEM126B, mitochondrial", "tax_id": 9606, "disease": "nuclear type mitochondrial complex I deficiency 29 (Disease Ontology:DOID:0112084)", "pathway": " (hsa:55863); (R-HSA-6799198)", "pathway_count": 2, "publication_count": 67, "publication_id_list": "10931946;11220739;11237011;17936786;19752196;20406883;20552642;20858599;21924235;23186163;23553477;24191001;24714562;24715725;25678554;25880248;25892735;26728094;26992070;27374773;27374774;27499296;27600516;27626371;27846572;27893789;28514659;28832583;28834231;28904123;29242379;29437277;29557506;29632711;29786170;29789417;30315122;30429286;30524438;31666358;31844290;31866046;32157095;32320651;32357974;32488085;32938616;32983136;33592498;33717175;33879611;33882309;33912179;34561969;34932366;35051231;35154160;35318648;35333655;35580925;35614220;36241641;36284347;36482121;37938771;38199007;9571201", "class_list": "", "function": "As part of the MCIA complex, involved in the assembly of the mitochondrial complex I (PubMed:27374773, PubMed:27374774, PubMed:32320651). Participates in constructing the membrane arm of complex I (PubMed:24191001)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency., [RefSeq, PubMed]; This gene encodes a mitochondrial transmembrane protein which is a component of the mitochondrial complex I assembly complex. The encoded protein serves as an assembly factor that is required for formation of the membrane arm of the complex. It interacts with NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 13. Naturally occurring mutations in this gene are associated with isolated complex I deficiency. A pseudogene of this gene has been defined on chromosome 9. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K535;A8MSS0;Q32Q09;Q8WVU3;Q96EP3;Q9NZ29", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0160295 mitochondrial complex I intermediate assembly complex;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0032981 mitochondrial respiratory chain complex I assembly", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q8IUX1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99677-1", "uniprot_id": "LPAR4_HUMAN", "mass": 41895.0, "length": 370, "protein_name": "Lysophosphatidic acid receptor 4", "gene_name": "LPAR4", "organism": "Human", "refseq_name": "lysophosphatidic acid receptor 4", "refseq_ac": "NP_001264929", "gene_names_uniprotkb": "LPAR4; GPR23; LPA4; P2RY9", "gene_names_refseq": "GPR23; LPA4; LPAR4; P2RY9; P2Y5-LIKE; P2Y9", "protein_names_uniprotkb": "Lysophosphatidic acid receptor 4; G protein-coupled receptor 23; LPA receptor 4; LPA-4; P2Y purinoceptor 9; P2Y5-like receptor; P2Y9; Purinergic receptor 9", "protein_names_refseq": "G-protein coupled receptor 23; LPA receptor 4; LPA-4; P2Y purinoceptor 9; P2Y5-like receptor; lysophosphatidic acid receptor 4; purinergic receptor 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:2846); (R-HSA-416476); (R-HSA-417957)", "pathway_count": 3, "publication_count": 68, "publication_id_list": "10191087;10567430;10727532;10753868;10861009;11004484;11015615;11156592;11196645;11237011;11546776;11742120;11753430;12120503;12386137;12458155;12724320;15199474;15951850;16182515;16268477;16268778;16335952;16339447;16754659;16774927;16923326;16990797;17166850;18297070;18434541;18466763;18515384;18577758;18936096;1905813;19339661;19552634;23890048;24393016;24414167;26194851;26758983;27694321;28089137;28218747;2841328;28832583;29621954;3086311;3304967;34357683;35051231;36465614;36646789;7937899;8159738;8537336;8664309;8666290;8670200;8720746;9073069;9223435;9305846;9364473;9405388;9770463", "class_list": "", "function": "Identified as the fourth lysophosphatidic acid (LPA) receptor; shares only 20-24% amino acid identities with Edg-2/LPA1, Edg-4/LPA2, and Edg-7/LPA3, and phylogenetic analysis also shows that p2y9/GPR23 is far distant from the Edg family, [RefSeq, PubMed]; Pancreatic cancer cells upregulate LPAR4 in response to isolation stress to promote an ECM-enriched niche and support tumour initiation., [RefSeq, PubMed]; Potential genetic biomarkers predict adverse pregnancy outcome during early and mid-pregnancy in women with systemic lupus erythematosus. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for lysophosphatidic acid (LPA), a mediator of diverse cellular activities. Transduces a signal by increasing the intracellular calcium ions and by stimulating adenylyl cyclase activity. The rank order of potency for agonists of this receptor is 1-oleoyl- > 1-stearoyl- > 1-palmitoyl- > 1-myristoyl- > 1-alkyl- > 1-alkenyl-LPA., [UniProtKB, PubMed]; Study shows that due to the high LPAR2 and LPAR4 transcript and protein expression in endometriotic ovarian cysts and positive correlations of both these receptors with the PR-B and ERbeta, respectively, those receptors seem to be the most promising predictors of the endometriotic cysts., [RefSeq, PubMed]; This gene encodes a member of the lysophosphatidic acid receptor family. It may also be related to the P2Y receptors, a family of receptors that bind purine and pyrimidine nucleotides and are coupled to G proteins. The encoded protein may play a role in monocytic differentiation. [provided by RefSeq, Feb 2009]., [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": 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": 21, "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": "B2RAC7;O15132;Q502U9;Q6NSP5", "ec_number_list": "", "go_molecular_function": "GO:0070915 lysophosphatidic acid receptor activity;GO:0035727 lysophosphatidic acid binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "Q99677-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NG50-1", "uniprot_id": "RDM1_HUMAN", "mass": 31970.0, "length": 284, "protein_name": "RAD52 motif-containing protein 1", "gene_name": "RDM1", "organism": "Human", "refseq_name": "RAD52 motif-containing protein 1 isoform 2", "refseq_ac": "NP_001030008", "gene_names_uniprotkb": "RDM1; RAD52B", "gene_names_refseq": "RAD52B; RDM1", "protein_names_uniprotkb": "RAD52 motif-containing protein 1; RAD52 homolog B", "protein_names_refseq": "RAD52 homolog B; RAD52 motif 1; RAD52 motif-containing protein 1 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:201299)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "15611051;17905820;24714562;26728094;26811146;28228285;28514659;29769354;29845285;30069034;31670863;31844290;32387766;32501118;33592498;33912179;33968037;34264012;34435618;37217939", "class_list": "", "function": "Association of RDM1 with osteosarcoma progression via cell cycle and MEK/ERK signalling pathway regulation., [RefSeq, PubMed]; Correlation analysis of RDM1 gene with immune infiltration and clinical prognosis of hepatocellular carcinoma., [RefSeq, PubMed]; Due to its similarity to RAD52, we hypothesized that RDM1 potentially repairs DNA doublestrand breaks arising through DNA replication., [RefSeq, PubMed]; Knockdown of RDM1 in lung adenocarcinoma cells reduces cell proliferation and promotes apoptosis, consistent with the role RDM1 in the overexpression experiments. Xenograft mouse model shows stable knockdown of RDM1 significantly inhibits lung adenocarcinoma tumor growth. These in vitro and in vivo results conclude that RDM1 plays an oncogenic role in human lung adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Loss of RDM1 enhances hepatocellular carcinoma progression via p53 and Ras/Raf/ERK pathways., [RefSeq, PubMed]; May confer resistance to the antitumor agent cisplatin. Binds to DNA and RNA., [UniProtKB, PubMed]; RDM1 plays an oncogenic role in human ovarian carcinoma cells., [RefSeq, PubMed]; RDM1 recognizes DNA distortions induced by cisplatin-DNA adducts in vitro; possible role in spermatogenesis, [RefSeq, PubMed]; The identification of 11 human cDNAs encoding RDM1 protein isoforms which is generated by alternative pre-mRNA splicing and differential usage of two translational start sites., [RefSeq, PubMed]; This gene encodes a protein involved in the cellular response to cisplatin, a drug commonly used in chemotherapy. The protein encoded by this gene contains two motifs: a motif found in RAD52, a protein that functions in DNA double-strand breaks and homologous recombination, and an RNA recognition motif (RRM) that is not found in RAD52. The RAD52 motif region in RAD52 is important for protein function and may be involved in DNA binding or oligomerization. Alternatively spliced transcript variants encoding different isoforms have been reported. [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": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 7, "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": "A0JP55;A8MV46;A8MY68;A8MZ92;A8RCS5;A8RCT0;A8RCT5;A8RCT8;A8RCU3;A8RCU8;A8RCW0;A8RCW5", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding", "go_cellular_component": "GO:0005730 nucleolus;GO:0005829 cytosol;GO:0016605 PML body;GO:0015030 Cajal body", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q8NG50-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q2TAY7-1", "uniprot_id": "SMU1_HUMAN", "mass": 57544.0, "length": 513, "protein_name": "WD40 repeat-containing protein SMU1", "gene_name": "SMU1", "organism": "Human", "refseq_name": "WD40 repeat-containing protein SMU1", "refseq_ac": "NP_060695", "gene_names_uniprotkb": "SMU1", "gene_names_refseq": "BWD; SMU-1; SMU1; fSAP57", "protein_names_uniprotkb": "WD40 repeat-containing protein SMU1; Smu-1 suppressor of mec-8 and unc-52 protein homolog", "protein_names_refseq": "DNA replication regulator and spliceosomal factor; WD40 repeat-containing protein SMU1; brain-enriched WD-repeat protein; functional spliceosome-associated protein 57; smu-1 suppressor of mec-8 and unc-52 homolog; smu-1 suppressor of mec-8 and unc-52 protein homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:55234); (R-HSA-72163)", "pathway_count": 2, "publication_count": 172, "publication_id_list": "10.1101/2023.09.13.557529;10882114;11014198;11101529;11233976;11991638;12042320;12176931;12411573;12414731;12477934;14625303;14713954;15104674;15570572;15878348;16115862;16314458;16809785;17095540;17332742;17606899;18322460;18593880;19103666;19165350;19531498;19536130;20068231;20423332;20980672;21536652;2176635;21872626;21993680;22110043;22121020;22223895;22365833;22959432;22961380;23222130;23236153;23345524;23481700;23783831;24196718;24304693;24366607;24397554;24448447;24714562;24715725;24737827;24914973;24945353;25469497;25505266;25555158;25576301;2558966;25880248;26154972;26375851;26385511;26420826;26811146;26969736;26992070;27377154;27397612;27459055;27600516;27683217;27846572;27920218;28062851;28063628;28076346;28218747;28228285;28352266;28502770;28510447;28781166;28832583;28834231;28860189;28904123;29242379;29301961;29360106;29361316;29393594;29437277;29493099;29557506;29632046;29632711;2963332;29786170;29789417;30315122;30315277;30410026;30429286;30484775;30524438;30705154;30728453;30765414;30975767;31217245;31409651;31844290;32157095;32179686;32265295;32329775;32357974;32387766;32488085;32494006;32502341;32522876;32897882;32938616;32983136;33091337;33141586;33214551;33243851;33298915;33392160;33446560;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34301950;34561969;34725712;34822310;34932366;35051231;35318648;35385551;35561310;35580925;36010968;36215666;36241641;36284347;3757028;37938771;39236066;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "(Microbial infection) Required, together with IK, for normal splicing of influenza A virus NS1 pre-mRNA, which is required for the production of the exportin NS2 and for the production of influenza A virus particles. Not required for the production of VSV virus particles., [UniProtKB, PubMed]; Involved in pre-mRNA splicing as a component of the spliceosome (PubMed:28781166). Regulates alternative splicing of the HSPG2 pre-mRNA (By similarity). Required for normal accumulation of IK (PubMed:24945353). Required for normal mitotic spindle assembly and normal progress through mitosis (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; SMU1 Knockdown Suppresses Gastric Carcinoma Growth, Migration, and Invasion and Modulates the Cell Cycle., [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": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4E3L0;Q9BU59;Q9HA96;Q9NVD1", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016607 nuclear speck;GO:0071011 precatalytic spliceosome", "go_biological_process": "GO:0008380 RNA splicing;GO:0000398 mRNA splicing, via spliceosome;GO:0000381 regulation of alternative mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 17.7, "record_id": "Q2TAY7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96PG1-1", "uniprot_id": "M4A4E_HUMAN", "mass": 15209.0, "length": 132, "protein_name": "Putative membrane-spanning 4-domains subfamily A member 4E", "gene_name": "MS4A4E", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "MS4A4E", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative membrane-spanning 4-domains subfamily A member 4E", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "11237011;11486273", "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": "Q3C1W1;Q3C1W3;Q3C1W4", "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": "Q96PG1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H3W5-1", "uniprot_id": "LRRN3_HUMAN", "mass": 79424.0, "length": 708, "protein_name": "Leucine-rich repeat neuronal protein 3", "gene_name": "LRRN3", "organism": "Human", "refseq_name": "leucine-rich repeat neuronal protein 3 precursor", "refseq_ac": "NP_001093128", "gene_names_uniprotkb": "LRRN3; Nbla10363; PRO220", "gene_names_refseq": "FIGLER5; LRRN3; NLRR-3; NLRR3", "protein_names_uniprotkb": "Leucine-rich repeat neuronal protein 3; NLRR-3; Neuronal leucine-rich repeat protein 3", "protein_names_refseq": "fibronectin type III, immunoglobulin and leucine rich repeat domains 5; leucine-rich repeat neuronal protein 3 precursor; leucine-rich repeat neuronal protein 3; leucine-rich repeat protein, neuronal 3; neuronal leucine-rich repeat protein 3", "tax_id": 9606, "disease": "schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:54674)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;12975309;20678249;21908575;24190977;25256744;29242379;29493099;29557506;31154438;33091337;33592498;35580925", "class_list": "", "function": "NLRR3 is a direct target of MYCN, which associates with Miz-1 and negatively regulates NLRR3 expression. NLRR3 may play a role in NBL differentiation and the survival of NBL patients by inversely correlating with MYCN amplification., [RefSeq, PubMed]; NLRR3 is proteolytically processed by secretases and its intracellular domain is then released to translocate into the cell nucleus during ATRA-mediated neuroblastoma differentiation., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 8, "predicted_n_glycosites": 8, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 46, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "O43377;Q6I9V8;Q8IYQ6", "ec_number_list": "", "go_molecular_function": "GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q9H3W5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N309-1", "uniprot_id": "LRC43_HUMAN", "mass": 73022.0, "length": 656, "protein_name": "Leucine-rich repeat-containing protein 43", "gene_name": "LRRC43", "organism": "Human", "refseq_name": "leucine-rich repeat-containing protein 43 isoform 1", "refseq_ac": "NP_001091989", "gene_names_uniprotkb": "LRRC43", "gene_names_refseq": "LRRC43", "protein_names_uniprotkb": "Leucine-rich repeat-containing protein 43", "protein_names_refseq": "leucine-rich repeat-containing protein 43 isoform 1; leucine-rich repeat-containing protein 43", "tax_id": 9606, "disease": "", "pathway": " (hsa:254050)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;24715725;28218747;29786170;35580925;38253038;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": 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": 20, "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": "Q6ZVT9", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q8N309-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P10911-1", "uniprot_id": "MCF2_HUMAN", "mass": 107673.0, "length": 925, "protein_name": "Proto-oncogene DBL", "gene_name": "MCF2", "organism": "Human", "refseq_name": "proto-oncogene DBL isoform a", "refseq_ac": "NP_001093325", "gene_names_uniprotkb": "MCF2; DBL", "gene_names_refseq": "ARHGEF21; DBL; MCF2", "protein_names_uniprotkb": "Proto-oncogene DBL; Proto-oncogene MCF-2", "protein_names_refseq": "Oncogene MCF2 (oncogene DBL); proto-oncogene DBL isoform a; proto-oncogene DBL; proto-oncogene MCF-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:4168); (R-HSA-193634); (R-HSA-193648); (R-HSA-416482); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013408); (R-HSA-9013423)", "pathway_count": 12, "publication_count": 412, "publication_id_list": "10037681;10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10618392;10619026;10652228;10652265;10699171;10699464;10724160;10847683;10873388;10873802;10958683;11007481;11058585;11085924;11145705;11149925;11201742;11207612;11237011;11283606;11294240;11306516;11313914;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11680691;11689693;11696321;11704860;11707441;11742120;11756498;11756552;11773441;11803464;11804587;11804589;11804590;11864571;11884391;11912491;11919634;11948177;11956649;11961559;11967128;12071859;12093360;12096337;12097334;12101119;12123608;12172552;12177196;12195014;12221077;12221096;12351724;12376551;12426574;12432077;12433842;12445822;12464619;12473120;12515866;12531887;12546821;12547822;12650940;12665586;12692556;12773384;12857875;12860998;12877655;12907671;12923183;14506234;14512443;14514689;1464587;14673001;14675773;14718541;14966521;15023524;15033976;15064355;15107133;15133129;15147912;15157669;15169870;15260990;15302923;15304341;15339924;15342493;15470142;15485661;15507211;15542837;15579468;15601624;15611138;15683221;15699075;15728722;15749160;15814684;15850391;15858067;15866170;15897194;15944396;15951850;16002401;16081809;16112081;16116428;16184169;16212495;16217026;16243035;16243036;16339170;16467373;16473593;16492808;16507994;16519628;1660188;16630611;16636067;16702231;16714282;16762923;16776779;16777452;16777849;16862148;16896804;16914516;16917499;16923326;16968698;17000758;17027967;17060455;17064668;17077126;17145773;17158234;17196961;17198702;17214551;17244649;17269730;17562871;17583407;17599059;17698854;17702745;17765681;17804252;17932950;17942708;17976533;18006505;18045877;18056264;18158243;18191593;18218625;18249095;18347018;18363964;18374420;18396277;18426980;18452278;18577758;18653540;18662984;18697831;18786931;18802007;18829452;18835169;18838382;18929667;19212140;19269969;19494238;19534724;19581409;19605563;19635168;19673492;19713215;19934221;20030946;20101212;20400958;20460433;20479760;20591975;20628200;2065022;20660154;20679435;20810653;21148482;21151158;21351730;21373644;21378159;21454492;21542010;21565175;21576392;21613211;21621533;21685891;21699497;21712385;21730051;21757538;21865595;21936715;21989057;22004470;22096251;22298643;22305756;22407364;22461490;22475431;22571869;22608513;22661716;22673745;22734669;22790947;22911862;22970203;22984590;22992742;23200924;23209303;23255595;23288169;23406282;23434736;23572525;23707487;23718289;23757206;23870057;23870313;23940355;24086303;24128008;24259668;24335996;24352656;24584464;24623723;24659802;24715725;24859002;24933155;24960694;24996924;25024229;25211221;25414122;25425145;25428919;25673874;25704760;25721503;25723869;2577874;25795300;25862245;25963737;26016997;26129894;26299518;26371245;26529257;26598554;26628301;26887924;27072905;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27798618;27806292;27986909;28028151;28112683;28114311;28196833;28356423;28584191;28825699;28860633;29089502;29146911;29242379;29358323;29382922;29557506;30007591;30061681;3056717;30779550;30853411;31105010;31389670;31416844;31848261;31871319;32203420;3281159;35051231;36215666;36240223;36241641;7476457;7479768;7512369;7559638;7673236;7721814;7753201;7835339;7937899;8021274;8107774;8276860;8537347;8543060;8571126;8617235;8643598;8645157;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8807639;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9111050;9113980;9252344;9268338;9305890;9308960;9405671;9418861;9438849;9490638;9497316;9520479;9535835;9548756;9582072;9659915;9670022;9705280;9792683;9796816;9822598;9822605;9829970;9843499;9846874;9988689", "class_list": "", "function": "Dbl is regulated by hamartin through association with ezrin., [RefSeq, PubMed]; Guanine nucleotide exchange factor (GEF) that modulates the Rho family of GTPases. Promotes the conversion of some member of the Rho family GTPase from the GDP-bound to the GTP-bound form. Isoform 1 exhibits no activity toward RHOA, RAC1 or CDC42. Isoform 2 exhibits decreased GEF activity toward CDC42. Isoform 3 exhibits a weak but significant activity toward RAC1 and CDC42. Isoform 4 exhibits significant activity toward RHOA and CDC42. The truncated DBL oncogene is active toward RHOA, RAC1 and CDC42., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Phosphoinositide 3-kinase C2beta regulates RhoA and the actin cytoskeleton through an interaction with Dbl, [RefSeq, PubMed]; Results support a role for Dbl oncogene in mammary epithelial cell differentiation and transformation and suggest the relevance of GEF deregulation in tumor onset and progression., [RefSeq, PubMed]; The oncogenic protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that exerts control over some members of the Rho family of small GTPases. Several transcript variants encoding different isoforms have been found for this gene. These isoforms exhibit different expression patterns and varying levels of GEF activity.[provided by RefSeq, Jan 2010]., [RefSeq]; We elucidate a mechanism through which the DBL family members MCF2 and VAV1 act to drive drug resistance in human BRAFV600E-mutant melanoma 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": 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": 1, "reported_glycation": 0, "reported_snv": 13, "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": "B7Z3Y5;B7Z869;B7ZAV1;E9PH77;F5H091;P14919;Q5JYJ2;Q5JYJ3;Q5JYJ4;Q8IUF3;Q8IUF4;Q9UJB3", "ec_number_list": "", "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0016358 dendrite development;GO:0035556 intracellular signal transduction;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0050771 negative regulation of axonogenesis", "synthesized_glycan_count": 0, "hit_score": 41.5, "record_id": "P10911-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NYZ2-1", "uniprot_id": "MFRN1_HUMAN", "mass": 37323.0, "length": 338, "protein_name": "Mitoferrin-1", "gene_name": "SLC25A37", "organism": "Human", "refseq_name": "mitoferrin-1 isoform 2", "refseq_ac": "NP_001304741", "gene_names_uniprotkb": "SLC25A37; HT015; MFRN; MSCP", "gene_names_refseq": "HT015; MFRN1; MFRN; MSCP; SLC25A37", "protein_names_uniprotkb": "Mitoferrin-1; Mitochondrial iron transporter 1; Mitochondrial solute carrier protein; Solute carrier family 25 member 37", "protein_names_refseq": "mitochondrial iron transporter 1; mitochondrial solute carrier protein; mitoferrin-1 isoform 2; mitoferrin-1; mitoferrin; predicted protein of HQ2217; solute carrier family 25 (mitochondrial iron transporter), member 37", "tax_id": 9606, "disease": "", "pathway": " (hsa:51312); (R-HSA-1362409)", "pathway_count": 2, "publication_count": 47, "publication_id_list": "10639125;10931946;11237011;11823441;12785837;12886008;12947415;12970193;15509595;15952888;16847322;17331979;18319250;18339629;18425540;19454487;20522547;20668094;20873749;21298097;21776984;21944046;21987576;22077971;22101253;22306468;22323289;22352884;22511353;24733926;25347204;25576301;26016389;26016518;27989128;28001042;28832583;29242379;29393594;29557506;31844290;32157095;32810522;32897882;33686958;35513392;35580925", "class_list": "", "function": "Identification of key genes in coronary artery disease: an integrative approach based on weighted gene co-expression network analysis and their correlation with immune infiltration., [RefSeq, PubMed]; MiR-7 mediates mitochondrial impairment to trigger apoptosis and necroptosis in Rhabdomyosarcoma., [RefSeq, PubMed]; Mitochondrial iron transporter that specifically mediates iron uptake in developing erythroid cells, thereby playing an essential role in heme biosynthesis., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; SLC25A37 is a solute carrier localized in the mitochondrial inner membrane. It functions as an essential iron importer for the synthesis of mitochondrial heme and iron-sulfur clusters (summary by Chen et al., 2009 [PubMed 19805291]).[supplied by OMIM, Jan 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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A2RU93;Q53FT7;Q69YJ8;Q969S1;Q9P0J2", "ec_number_list": "", "go_molecular_function": "GO:0015093 ferrous iron transmembrane transporter activity;GO:0005381 iron ion transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0046985 positive regulation of hemoglobin biosynthetic process;GO:0048250 iron import into the mitochondrion", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q9NYZ2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P04732-1", "uniprot_id": "MT1E_HUMAN", "mass": 6014.0, "length": 61, "protein_name": "Metallothionein-1E", "gene_name": "MT1E", "organism": "Human", "refseq_name": "metallothionein-1E isoform 2", "refseq_ac": "NP_783316", "gene_names_uniprotkb": "MT1E", "gene_names_refseq": "MT-1E; MT-IE; MT1E; MT1; MTD", "protein_names_uniprotkb": "Metallothionein-1E; MT-1E; MT-IE; Metallothionein-IE", "protein_names_refseq": "metallothionein 1E (functional); metallothionein D; metallothionein-1E isoform 2; metallothionein-IE", "tax_id": 9606, "disease": "retinitis pigmentosa (Disease Ontology:DOID:10584); Alzheimer's disease (Disease Ontology:DOID:10652); kidney failure (Disease Ontology:DOID:1074); transient cerebral ischemia (Disease Ontology:DOID:224); median neuropathy (Disease Ontology:DOID:571)", "pathway": " (hsa:4493); (R-HSA-5661231)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "10542048;10716985;10830841;11237011;11994011;12072966;12911326;12963354;15033980;15698955;15736926;16984198;17224279;17388808;17389590;1779803;18157556;18429853;18454142;18533113;19425569;20463663;20711450;21320589;22242602;22283439;22823575;22982309;23086305;23506369;23523794;24973778;2581970;29557506;30932010;31002354;32956919;37074911;37878528;8119276", "class_list": "", "function": "Identification of MT1E as a novel tumor suppressor in hepatocellular carcinoma., [RefSeq, PubMed]; In clear cell renal cell carcinoma (RCC) MT1E, MT1G and MT1M expression was higher than that noted in other histological tumor subtypes (all P<0.0500). In addition, some associations were observed between metabolic syndromerelated clinical parameters and promoter methylation or gene expression, [RefSeq, PubMed]; Metallothionein Genes are Highly Expressed in Malignant Astrocytomas and Associated with Patient Survival. Publication Status: Online-Only, [RefSeq, PubMed]; Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids., [UniProtKB, UniProtKB, UniProtKB]; Rare Variant in Metallothionein 1E Increases the Risk of Type 2 Diabetes in a 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": 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": 9671, "biomarker_type": "", "glycan_count": 2, "disease_count": 5, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A2RRF7;Q86YX4;Q8TD51", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0071276 cellular response to cadmium ion;GO:0071280 cellular response to copper ion;GO:0010273 detoxification of copper ion;GO:0006882 intracellular zinc ion homeostasis;GO:0071294 cellular response to zinc ion", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "P04732-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96AQ8-1", "uniprot_id": "MCUR1_HUMAN", "mass": 39694.0, "length": 359, "protein_name": "Mitochondrial calcium uniporter regulator 1", "gene_name": "MCUR1", "organism": "Human", "refseq_name": "mitochondrial calcium uniporter regulator 1", "refseq_ac": "NP_001026883", "gene_names_uniprotkb": "MCUR1; C6orf79; CCDC90A", "gene_names_refseq": "C6orf79; CCDC90A; FMP32; MCUR1", "protein_names_uniprotkb": "Mitochondrial calcium uniporter regulator 1; Coiled-coil domain-containing protein 90A, mitochondrial; MCU regulator 1", "protein_names_refseq": "MCU regulator 1; coiled-coil domain containing 90A; coiled-coil domain-containing protein 90A, mitochondrial; epididymis secretory sperm binding protein; mitochondrial calcium uniporter regulator 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:63933)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "11237011;19651622;20877624;23178883;24715725;25565209;26341627;26445506;26976564;26992070;27184846;28904123;29557506;31844290;32157095;32357974;32387766;32938616;32978391;32983136;33298915;33392160;33968037;34357683;34405274;34459387;34509645;34932366;35051231;35580925;36010968", "class_list": "", "function": "CCDC90A is not directly implicated in MCU function, and that the Ca2+ uptake defect associated with loss of CCDC90A function is likely secondary to the respiratory chain deficiency., [RefSeq, PubMed]; Key regulator of mitochondrial calcium uniporter (MCU) required for calcium entry into mitochondrion (PubMed:23178883, PubMed:26445506, PubMed:26976564, PubMed:27184846). Plays a direct role in uniporter-mediated calcium uptake via a direct interaction with MCU (PubMed:23178883). Probably involved in the assembly of the membrane components of the uniporter complex (uniplex) (PubMed:27184846)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; MCUR1 is a prognostic biomarker for ovarian cancer patients., [RefSeq, PubMed]; MCUR1 regulates the calcium threshold for the mitochondrial permeability transition., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Yeast homologs of human MCUR1 regulate mitochondrial proline metabolism. 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": 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": "Q96JS7;Q9H7F8", "ec_number_list": "", "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0016020 membrane", "go_biological_process": "GO:0006851 mitochondrial calcium ion transmembrane transport;GO:0036444 calcium import into the mitochondrion;GO:0051561 positive regulation of mitochondrial calcium ion concentration;GO:0070509 calcium ion import", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q96AQ8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N967-1", "uniprot_id": "LRTM2_HUMAN", "mass": 41158.0, "length": 370, "protein_name": "Leucine-rich repeat and transmembrane domain-containing protein 2", "gene_name": "LRTM2", "organism": "Human", "refseq_name": "leucine-rich repeat and transmembrane domain-containing protein 2 precursor", "refseq_ac": "NP_001034118", "gene_names_uniprotkb": "LRTM2", "gene_names_refseq": "LRTM2", "protein_names_uniprotkb": "Leucine-rich repeat and transmembrane domain-containing protein 2", "protein_names_refseq": "leucine rich repeats and transmembrane domains 2; leucine-rich repeat and transmembrane domain-containing protein 2 precursor; leucine-rich repeat and transmembrane domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:654429)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "10.1101/2023.09.13.557529;11237011;23481700;29351928;35051231;35251023;36010968", "class_list": "", "function": "", "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": 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": 24, "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": "A7E2U6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0007155 cell adhesion", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q8N967-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UFC0-1", "uniprot_id": "LRWD1_HUMAN", "mass": 70861.0, "length": 647, "protein_name": "Leucine-rich repeat and WD repeat-containing protein 1", "gene_name": "LRWD1", "organism": "Human", "refseq_name": "leucine-rich repeat and WD repeat-containing protein 1 isoform 2", "refseq_ac": "NP_001304650", "gene_names_uniprotkb": "LRWD1; CENP-33; ORCA", "gene_names_refseq": "CENP-33; LRWD1; ORCA", "protein_names_uniprotkb": "Leucine-rich repeat and WD repeat-containing protein 1; CENP-33; Centromere protein 33; ORC-associated protein; ORCA; Origin recognition complex-associated protein", "protein_names_refseq": "ORC-associated protein; centromere protein 33; leucine-rich repeat and WD repeat-containing protein 1 isoform 2; leucine-rich repeat and WD repeat-containing protein 1; origin recognition complex-associated protein; testicular tissue protein Li 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:222229)", "pathway_count": 1, "publication_count": 88, "publication_id_list": "11237011;15302935;17074343;17081983;17525332;17924679;18220336;18445686;18452278;18669648;19413330;19415658;19651622;19664994;19664995;19690332;20068230;20068231;20813266;20850016;20932478;21029866;21406692;22427655;22645314;22645359;22706990;22935713;23186163;23481700;24275569;24366607;24714562;25418920;25576301;25922909;26154972;26728094;26811146;26929215;26992070;27600516;27760381;27846572;27920218;28218747;28510447;28569402;28832583;28834231;28904123;29242379;29371260;29393594;29437277;29544732;29557506;29632046;29632711;30315122;30410026;30429286;30779550;31154438;31530632;31844290;31848261;32157095;32357974;32387766;32488085;32938616;33141586;33298915;33592498;33691108;33936100;33968037;33981976;34171305;34405274;34932366;35051231;35580925;36010968;36241641;37938771;38385979", "class_list": "", "function": "A novel function of LRWD1 in controlling microtubule nucleation and cell cycle progression in the human testicular embryonic carcinoma cells., [RefSeq, PubMed]; Data show that ORCA acts as a scaffold for the establishment of H3K9 KMT complex. Publication Status: Online-Only, [RefSeq, PubMed]; LRWD1 is a novel regulator of EWS-FLI1 driven cell proliferation in Ewing sarcoma cells. EWS-FLI1 regulates LRWD1 expression and LRWD1 may contribute to EWS-FLI1 mediated transcriptional repression., [RefSeq, PubMed]; MicroRNA-320a enhances LRWD1 expression through the AGO2/FXR1-dependent pathway to affect cell behaviors and the oxidative stress response in human testicular embryonic carcinoma cells., [RefSeq, PubMed]; Nuclear factor erythroid-2-related factor regulates LRWD1 expression and cellular adaptation to oxidative stress in human embryonal carcinoma cells, [RefSeq, PubMed]; Required for G1/S transition. Recruits and stabilizes the origin recognition complex (ORC) onto chromatin during G1 to establish pre-replication complex (preRC) and to heterochromatic sites in post-replicated cells. Binds a combination of DNA and histone methylation repressive marks on heterochromatin. Binds histone H3 and H4 trimethylation marks H3K9me3, H3K27me3 and H4K20me3 in a cooperative manner with DNA methylation. Required for silencing of major satellite repeats. May be important ORC2, ORC3 and ORC4 stability., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene interacts with components of the origin recognition complex (ORC) and regulates the formation of the prereplicative complex. The encoded protein stabilizes the ORC and therefore aids in DNA replication. This protein is required for the G1/S phase transition of the cell cycle. In addition, the encoded protein binds to trimethylated histone H3 in heterochromatin and recruits the ORC and lysine methyltransferases, which help maintain the repressive heterochromatic state. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 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": 10, "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": "A8K4K2;B2R9G2;Q8N0T9;Q8WV43;Q96GJ2", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding;GO:0008327 methyl-CpG binding;GO:0061628 histone H3K27me3 reader activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005813 centrosome;GO:0000776 kinetochore", "go_biological_process": "GO:0006325 chromatin organization;GO:0006270 DNA replication initiation;GO:0071169 establishment of protein localization to chromatin", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "Q9UFC0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H8H3-1", "uniprot_id": "TMT1A_HUMAN", "mass": 28319.0, "length": 244, "protein_name": "Thiol S-methyltransferase TMT1A", "gene_name": "TMT1A", "organism": "Human", "refseq_name": "thiol S-methyltransferase TMT1A precursor", "refseq_ac": "NP_054752", "gene_names_uniprotkb": "TMT1A; METTL7A; PRO0066; PRO4348", "gene_names_refseq": "AAM-B; AAMB; METTL7A; TMT1A", "protein_names_uniprotkb": "Thiol S-methyltransferase TMT1A; 2.1.1.348; 2.1.1.9; Methyltransferase-like protein 7A; N6-adenosine-methyltransferase TMT1A; Protein AAM-B; Thiol methyltransferase 1A", "protein_names_refseq": "N6-adenosine-methyltransferase TMT1A; methyltransferase TMT1A; methyltransferase like 7A; methyltransferase-like protein 7A; protein AAM-B; putative methyltransferase-like protein 7A; thiol S-methyltransferase TMT1A precursor; thiol S-methyltransferase TMT1A", "tax_id": 9606, "disease": "", "pathway": " (hsa:25840); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 51, "publication_id_list": "11237011;12975309;18477614;19773358;20068231;23650620;25548167;25576301;26185986;26992070;27397612;27452731;27846572;27862975;28416772;28834231;29242379;29493099;29508533;29557506;29632711;29769354;29786170;29789417;30429286;30779550;31154438;31611695;31844290;31848261;32157095;32350084;32502341;32983136;33592498;33912179;33936100;34226523;34790668;34980213;35051231;35251023;35580925;36215666;36284347;37137720;37176112;37547717;37938771;38151817;8692836", "class_list": "", "function": "(Microbial infection) May be involved in the assembly and release stages of hepatitis C virus (HCV) life cycle and thus play a crucial role in HCV propagation., [UniProtKB, PubMed]; A Novel Localization of METTL7A in Bergmann Glial Cells in Human Cerebellum. Publication Status: Online-Only, [RefSeq, PubMed]; AAM-B is predominantly localized in lipid droplets and may be involved in recruitment of NS4B protein in the proximity of lipid droplets. Publication Status: Online-Only, [RefSeq, PubMed]; Results revealed that the methylation level of METTL7A was downregulated in thyroid cancer, and determined the methylation level of one CpG site at the exon of the METTL7A gene body impacted the transcriptional activity., [RefSeq, PubMed]; The Methyltransferases METTL7A and METTL7B Confer Resistance to Thiol-Based Histone Deacetylase Inhibitors., [RefSeq, PubMed]; Thiol S-methyltransferase that catalyzes the transfer of a methyl group from S-adenosyl-L-methionine to alkyl and phenolic thiol-containing acceptor substrates. Together with TMT1B accounts for most of S-thiol methylation activity in the endoplasmic reticulum of hepatocytes (PubMed:37137720). Able to methylate the N6 position of adenosine residues in long non-coding RNAs (lncRNAs). May facilitate lncRNAs transfer into exosomes at the tumor-stroma interface (PubMed:34980213). Promotes osteogenic and odontogenic differentiation by regulating the expression of genes involved in stem cell differentiation and survival (PubMed:34226523, PubMed:34790668). Targeted from the endoplasmic reticulum to lipid droplets, where it recruits cellular proteins to form functional organelles (PubMed:19773358)., [UniProtKB, PubMed, PubMed, PubMed]; Transcriptomic characterization revealed that METTL7A inhibits melanoma progression via the p53 signaling pathway and immunomodulatory 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q9H7R3;Q9UHZ7;Q9Y422", "ec_number_list": "1.8.3.2;1.1.1.42;3.4.21.-;1.16.3.1;4.1.2.13;3.4.23.5;3.3.2.6;3.4.11.4;3.4.24.35;3.4.24.34;3.4.22.27;3.1.3.48;3.5.4.5;1.13.11.27;2.1.1.348;3.4.21.4;5.4.2.2;3.2.1.17;3.1.1.-;3.2.1.14;3.5.1.23;3.5.1.-;3.5.1.109;2.3.2.5;2.1.1.9;2.1.1.346;3.6.1.6;3.4.19.9;3.5.1.3", "go_molecular_function": "GO:0001734 mRNA m(6)A methyltransferase activity;GO:0008168 methyltransferase activity;GO:0008173 RNA methyltransferase activity;GO:0018708 thiol S-methyltransferase activity;GO:0008757 S-adenosylmethionine-dependent methyltransferase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005783 endoplasmic reticulum;GO:0005811 lipid droplet;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0042476 odontogenesis;GO:0001649 osteoblast differentiation;GO:0032259 methylation;GO:0180035 lncRNA processing", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q9H8H3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z745-1", "uniprot_id": "MRO2B_HUMAN", "mass": 180781.0, "length": 1585, "protein_name": "Maestro heat-like repeat-containing protein family member 2B", "gene_name": "MROH2B", "organism": "Human", "refseq_name": "maestro heat-like repeat-containing protein family member 2B", "refseq_ac": "NP_775760", "gene_names_uniprotkb": "MROH2B; HEATR7B2", "gene_names_refseq": "HEATR7B2; MROH2B; SPIF", "protein_names_uniprotkb": "Maestro heat-like repeat-containing protein family member 2B; HEAT repeat-containing protein 7B2; SPIF; Sperm PKA-interacting factor", "protein_names_refseq": "HEAT repeat family member 7B2; HEAT repeat family member B2; HEAT repeat-containing protein 7B2; maestro heat-like repeat-containing protein family member 2B; sperm PKA-interacting factor", "tax_id": 9606, "disease": "", "pathway": " (hsa:133558)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;19221116;24366607;24715725;29557506;29769354;30484775;32488085;33592498;35051231;36215666;36241641", "class_list": "", "function": "May play a role in the process of sperm capacitation., [UniProtKB, UniProtKB]; 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": 25, "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": "Q68DM1;Q7Z4U4;Q8N7X3", "ec_number_list": "", "go_molecular_function": "GO:0035591 signaling adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0001669 acrosomal vesicle;GO:0036126 sperm flagellum;GO:0097225 sperm midpiece", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0141156 cAMP/PKA signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q7Z745-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86TE4-1", "uniprot_id": "LUZP2_HUMAN", "mass": 38958.0, "length": 346, "protein_name": "Leucine zipper protein 2", "gene_name": "LUZP2", "organism": "Human", "refseq_name": "leucine zipper protein 2 isoform 1 precursor", "refseq_ac": "NP_001009909", "gene_names_uniprotkb": "LUZP2; PRO6246", "gene_names_refseq": "KFSP2566; LUZP2; PRO6246", "protein_names_uniprotkb": "Leucine zipper protein 2", "protein_names_refseq": "leucine zipper protein 2 isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:338645)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "10.1038/emboj.2013.79;11237011;12975309;23584533;29557506;31154438;32695826;37074911", "class_list": "", "function": "Downregulation of LUZP2 Is Correlated with Poor Prognosis of Low-Grade Glioma. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a leucine zipper protein. This protein is deleted in some patients with Wilms tumor-Aniridia-Genitourinary anomalies-mental Retardation (WAGR) syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 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": 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": 30, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A2RUB8;E9PN53;Q6UXE7;Q6ZS65", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q86TE4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P35548-1", "uniprot_id": "MSX2_HUMAN", "mass": 28897.0, "length": 267, "protein_name": "Homeobox protein MSX-2", "gene_name": "MSX2", "organism": "Human", "refseq_name": "homeobox protein MSX-2 isoform 1", "refseq_ac": "NP_002440", "gene_names_uniprotkb": "MSX2; HOX8", "gene_names_refseq": "CRS2; FPP; HOX8; MSH; MSX2; PFM1; PFM", "protein_names_uniprotkb": "Homeobox protein MSX-2; Homeobox protein Hox-8", "protein_names_refseq": "homeobox protein Hox-8; homeobox protein MSX-2 isoform 1; homeobox protein MSX-2; msh homeo box 2; msh homeobox homolog 2", "tax_id": 9606, "disease": "parietal foramina (Disease Ontology:DOID:0060285); craniosynostosis 2 (Disease Ontology:DOID:0061009); hypertension (Disease Ontology:DOID:10763); craniosynostosis (Disease Ontology:DOID:2340); parietal foramina with cleidocranial dysplasia (MONDO:MONDO:0008198)", "pathway": " (hsa:4488); (R-HSA-8939902)", "pathway_count": 2, "publication_count": 52, "publication_id_list": "10215629;10572046;10742103;10767351;10911365;11237011;12000792;12145306;12738770;12923053;14571277;15703179;16115867;16421188;16728642;17786208;18541707;21931630;22422618;22633971;23403054;23918290;23943595;23949913;25260729;25576301;26091038;26778333;26992070;27846572;28228285;28834231;30315122;30429286;31844290;31848261;32157095;32248833;33958655;34211107;34561969;34932366;35051231;35318648;35580925;36806146;7518789;7687426;7897272;8101453;8106171;9522127", "class_list": "", "function": "Acts as a transcriptional regulator in bone development. Represses the ALPL promoter activity and antagonizes the stimulatory effect of DLX5 on ALPL expression during osteoblast differentiation. Probable morphogenetic role. May play a role in limb-pattern formation. In osteoblasts, suppresses transcription driven by the osteocalcin FGF response element (OCFRE). Binds to the homeodomain-response element of the ALPL promoter., [UniProtKB, PubMed]; Expression of VEGFA-mRNA in classical and MSX2-mRNA in non-classical monocytes in patients with spondyloarthritis is associated with peripheral arthritis. Publication Status: Online-Only, [RefSeq, PubMed]; MSX2 suppression through inhibition of TGFbeta signaling enhances hematopoietic differentiation of human embryonic stem cells. Erratum:[Stem Cell Res Ther. 2020 Jun 17;11(1):242. doi: 10.1186/s13287-020-01760-1. PMID: 32552746] Publication Status: Online-Only, [RefSeq, PubMed]; Regulation of endogenous retrovirus-derived regulatory elements by GATA2/3 and MSX2 in human trophoblast stem cells., [RefSeq, PubMed]; This gene encodes a member of the muscle segment homeobox gene family. The encoded protein is a transcriptional repressor whose normal activity may establish a balance between survival and apoptosis of neural crest-derived cells required for proper craniofacial morphogenesis. The encoded protein may also have a role in promoting cell growth under certain conditions and may be an important target for the RAS signaling pathways. Mutations in this gene are associated with parietal foramina 1 and craniosynostosis type 2. [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": 1, "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": "D3DQN1;Q53XM4;Q9UD60", "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: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:0016607 nuclear speck;GO:0005667 transcription regulator complex;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:0048598 embryonic morphogenesis", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "P35548-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P21439-1", "uniprot_id": "MDR3_HUMAN", "mass": 141523.0, "length": 1286, "protein_name": "Phosphatidylcholine translocator ABCB4", "gene_name": "ABCB4", "organism": "Human", "refseq_name": "phosphatidylcholine translocator ABCB4 isoform A", "refseq_ac": "NP_000434", "gene_names_uniprotkb": "ABCB4; MDR3; PGY3", "gene_names_refseq": "ABC21; ABCB4; GBD1; ICP3; MDR2/3; MDR2; MDR3; PFIC-3; PGY3", "protein_names_uniprotkb": "Phosphatidylcholine translocator ABCB4; 7.6.2.1; ATP-binding cassette sub-family B member 4; Multidrug resistance protein 3; P-glycoprotein 3", "protein_names_refseq": "ATP-binding cassette sub-family B member 4; ATP-binding cassette, sub-family B (MDR/TAP), member 4; P-glycoprotein 3; P-glycoprotein-3/multiple drug resistance-3; multidrug resistance protein 3; multiple drug resistance 3; phosphatidylcholine translocator ABCB4 isoform A; phosphatidylcholine translocator ABCB4", "tax_id": 9606, "disease": "primary sclerosing cholangitis (Disease Ontology:DOID:0060643); progressive familial intrahepatic cholestasis 3 (Disease Ontology:DOID:0070223); intrahepatic cholestasis of pregnancy 3 (Disease Ontology:DOID:0070229); primary biliary cholangitis (Disease Ontology:DOID:12236); cholestasis (Disease Ontology:DOID:13580); cystic fibrosis (Disease Ontology:DOID:1485); intrahepatic cholestasis (Disease Ontology:DOID:1852); cholecystitis (Disease Ontology:DOID:1949); liver cirrhosis (Disease Ontology:DOID:5082); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:5244); (R-HSA-1989781); (R-HSA-382556); (R-HSA-5678771)", "pathway_count": 4, "publication_count": 149, "publication_id_list": "10.1101/2023.09.13.557529;10484077;10665657;10748049;10767346;10777541;11237011;11267664;11313315;11313316;11504826;11562789;11812794;12118000;12177166;12379217;12379510;12403779;12505311;12582161;12604685;12671900;12746424;12891548;1352877;1356264;1359686;1377674;14661924;15067378;15077010;15130092;15175422;15258199;15472518;15635043;15863492;15899824;16380219;16763017;16816140;16901789;16972786;17264802;17523162;17726488;17855752;17894550;17977821;18282684;18434309;18482588;18540824;18719978;18848529;19002207;19088433;19261551;19447222;19570978;19584064;19674157;1968359;19710929;19862647;19934321;1998343;2002063;20110263;20583968;20621639;21119540;21820390;22178883;22331132;23063411;23468132;23533021;24019521;24045840;24122873;24196956;24594635;24685677;24723470;2475911;24806754;25133187;2570070;26208431;26992070;27846572;27920218;28012258;28063628;28132103;28587926;28832583;2892668;2898143;2906314;29242379;29314611;29393594;29557506;29632046;30429286;31844290;31873305;32157095;32350084;32357974;32387766;32488085;32981041;32983136;33592498;33691108;33936100;34357683;3457471;3472246;34932366;35051231;35154160;35580925;37488782;37787087;38374565;38610052;7523390;7529176;7553863;7553864;7685352;7865904;7892212;7893760;7957936;8647822;8898203;9012850;9366571;9419367;9652413;9748239;9816258;9831708;9923886", "class_list": "", "function": "A novel heterozygous deletion in ABCB4 gene in a Chinese family with intrahepatic cholestasis of pregnancy, neonatal hyperbilirubinemia, and cholelithiasis: Case reports and literature review. Review article, [RefSeq, PubMed]; Analysis of various ATP-binding cassette transporters revealed quantification of ABCB4 as a potential diagnostic tool in primary sclerosing cholangitis (PSC)., [RefSeq, PubMed]; Clinical and genetic study of ABCB4 gene-related cholestatic liver disease in China: children and adults. Publication Status: Online-Only, [RefSeq, PubMed]; Clinical outcomes of ABCB4 heterozygosity in infants and children with cholestatic liver disease., [RefSeq, PubMed]; Energy-dependent phospholipid efflux translocator that acts as a positive regulator of biliary lipid secretion. Functions as a floppase that translocates specifically phosphatidylcholine (PC) from the inner to the outer leaflet of the canalicular membrane bilayer into the canaliculi of hepatocytes. Translocation of PC makes the biliary phospholipids available for extraction into the canaliculi lumen by bile salt mixed micelles and therefore protects the biliary tree from the detergent activity of bile salts (PubMed:17523162, PubMed:21820390, PubMed:23468132, PubMed:24594635, PubMed:24723470, PubMed:24806754, PubMed:31873305, PubMed:7957936, PubMed:8898203, PubMed:9366571). Plays a role in the recruitment of phosphatidylcholine (PC), phosphatidylethanolamine (PE) and sphingomyelin (SM) molecules to nonraft membranes and to further enrichment of SM and cholesterol in raft membranes in hepatocytes (PubMed:23468132). Required for proper phospholipid bile formation (By similarity). Indirectly involved in cholesterol efflux activity from hepatocytes into the canalicular lumen in the presence of bile salts in an ATP-dependent manner (PubMed:24045840). Promotes biliary phospholipid secretion as canaliculi-containing vesicles from the canalicular plasma membrane (PubMed:28012258, PubMed:9366571). In cooperation with ATP8B1, functions to protect hepatocytes from the deleterious detergent activity of bile salts (PubMed:21820390). Does not confer multidrug resistance (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a full transporter and member of the p-glycoprotein family of membrane proteins with phosphatidylcholine as its substrate. The function of this protein has not yet been determined; however, it may involve transport of phospholipids from liver hepatocytes into bile. Alternative splicing of this gene results in several products of undetermined function. [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": 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": 10, "reported_glycation": 0, "reported_snv": 44, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 10, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A0A2V7;A4D1D3;A4D1D4;A4D1D5;D6W5P3;D6W5P4;Q14813", "ec_number_list": "7.6.2.1;7.6.2.2;7.6.2.-;2.3.1.48;3.6.4.-;2.1.1.319;2.3.1.-;2.1.1.-;3.1.13.1;5.6.2.6;3.6.4.13", "go_molecular_function": "GO:0005524 ATP binding;GO:0042626 ATPase-coupled transmembrane transporter activity;GO:0016887 ATP hydrolysis activity;GO:0005548 phospholipid transporter activity;GO:0090554 phosphatidylcholine floppase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0045121 membrane raft", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0055085 transmembrane transport;GO:0055088 lipid homeostasis;GO:0045332 phospholipid translocation;GO:0061092 positive regulation of phospholipid translocation", "synthesized_glycan_count": 0, "hit_score": 15.2, "record_id": "P21439-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96A46-1", "uniprot_id": "MFRN2_HUMAN", "mass": 39272.0, "length": 364, "protein_name": "Mitoferrin-2", "gene_name": "SLC25A28", "organism": "Human", "refseq_name": "mitoferrin-2", "refseq_ac": "NP_112489", "gene_names_uniprotkb": "SLC25A28; MFRN2; NPD016", "gene_names_refseq": "MFRN2; MRS3/4; MRS4L; NPD016; SLC25A28", "protein_names_uniprotkb": "Mitoferrin-2; MRS3/4; Mitochondrial RNA-splicing protein 3/4 homolog; Mitochondrial iron transporter 2; Solute carrier family 25 member 28; hMRS3/4", "protein_names_refseq": "mitochondrial RNA splicing protein 3/4; mitochondrial RNA-splicing protein 3/4 homolog; mitochondrial iron transporter 2; mitoferrin-2; putative mitochondrial solute carrier; solute carrier family 25 (mitochondrial iron transporter), member 28", "tax_id": 9606, "disease": "", "pathway": " (hsa:81894); (R-HSA-1362409)", "pathway_count": 2, "publication_count": 54, "publication_id_list": "10639125;11237011;11297739;11823441;12785837;12886008;12947415;12970193;15509595;15952888;16385451;16847322;17331979;18319250;18339629;18425540;19454487;20522547;20668094;20873749;21298097;21776984;21944046;21987576;22077971;22101253;22306468;22323289;22352884;22511353;23135267;23266187;24733926;25347204;26016389;26016518;27920218;27989128;28001042;28218747;28228285;28832583;28904123;29242379;29393594;29437277;29632046;29769354;30779550;31844290;31848261;32157095;32161166;35051231", "class_list": "", "function": "Compares and contrasts all the known human SLC25A* genes and includes functional information. Review article, [RefSeq, PubMed]; Mitochondrial iron transporter that mediates iron uptake. Probably required for heme synthesis of hemoproteins and Fe-S cluster assembly in non-erythroid cells., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Mitoferrin-2-dependent mitochondrial iron uptake sensitizes human head and neck squamous carcinoma cells to photodynamic therapy, [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": 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": "Q4VBZ0;Q5T777;Q86VX5;Q969G8;Q9H2J3", "ec_number_list": "", "go_molecular_function": "GO:0015093 ferrous iron transmembrane transporter activity;GO:0005381 iron ion transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0048250 iron import into the mitochondrion", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q96A46-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q14814-1", "uniprot_id": "MEF2D_HUMAN", "mass": 55938.0, "length": 521, "protein_name": "Myocyte-specific enhancer factor 2D", "gene_name": "MEF2D", "organism": "Human", "refseq_name": "myocyte-specific enhancer factor 2D isoform 2", "refseq_ac": "NP_001258558", "gene_names_uniprotkb": "MEF2D", "gene_names_refseq": "MEF2D", "protein_names_uniprotkb": "Myocyte-specific enhancer factor 2D", "protein_names_refseq": "MADS box transcription enhancer factor 2, polypeptide D; myocyte-specific enhancer factor 2D isoform 2; myocyte-specific enhancer factor 2D", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); intellectual disability (Disease Ontology:DOID:1059); attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); lung cancer (Disease Ontology:DOID:1324)", "pathway": " (hsa:4209); (R-HSA-2151201); (R-HSA-525793); (R-HSA-9031628); (R-HSA-9707616); (R-HSA-9931509)", "pathway_count": 6, "publication_count": 313, "publication_id_list": "10198158;10203854;10330143;10381005;10381560;10412986;10523670;10601328;10611221;10611312;10617605;10643692;10656257;10713165;10734128;10805738;10826704;10849446;10872467;10882540;10984481;11018254;11027551;11120772;11237011;11280768;11331872;11340167;11343657;11387216;11567222;11755530;11782431;11809803;11840323;11904443;11956230;12130498;12356737;12374852;12377782;12399542;12511571;12511643;12563009;12634428;12691662;12745923;1377233;14522948;14597720;14969744;15102911;15161978;15175654;15302935;15449318;15542842;15620361;15665827;15684387;1570299;15733869;15743823;15761026;15831463;15834131;15836632;15880109;15888658;16034366;16079181;16079853;16136673;16166628;16187211;16221685;16260776;16287845;16339507;16356933;16407550;16484497;16574654;16732277;16788062;16890199;16908542;16911507;16964243;17031457;17081983;17088210;17088211;17088212;17437997;17632064;17715127;17898216;17923681;18006707;18037887;18056528;18088355;18160048;18212344;18215119;18299387;1833716;18343819;18452278;18456662;18491316;18524893;1861162;18669648;18680753;18691976;18767875;19001277;19061646;19116276;19193899;19194657;19356719;19413330;19417006;19564926;19608861;19651622;19664994;19710360;19812325;19926875;19951946;20068230;20068231;20160094;2017159;2040600;20506119;2052361;20581824;2072895;20817722;21030595;21057636;2109185;21158410;21326363;21479263;21486943;21621608;21628546;22053691;22065583;22302795;2237820;22544926;23186163;23301498;24060757;24196956;24275569;24714562;24715725;25248477;2539258;25502872;25569790;25576301;25748042;25880248;26018600;26154972;2676516;26992070;27041596;27128622;27220739;27487157;27551452;27754849;27846572;27920218;28076410;28111073;28275114;28286024;28314751;28904123;29237092;29351928;29485866;29493099;29557506;29559111;30059200;30379171;30429286;3127059;31492838;31748741;31844290;32157095;32265295;32354867;32357974;32387766;32502341;32574038;32695117;32897882;32938616;32983136;33141586;33214551;33298915;33392160;3345742;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34109727;34171305;34211107;34509645;34725712;34846842;34932366;35051231;35132862;35138101;35254053;35289036;35318648;35513511;35561310;35580925;35705054;36010968;36241641;36284347;3672127;37340703;37544723;37772772;37828611;37870842;38609001;38665916;38838015;39302247;39531497;39534244;40307207;40596516;7551568;7592934;7595538;7608156;7624335;7629110;7777577;7799916;7823924;7857651;7871435;7876254;7923378;8090221;8090222;8108407;8248782;8269842;8333869;8413279;8415693;8483478;8576248;8583621;8622974;8668170;8756618;8846918;8887638;8918830;9032251;9069290;9079689;9084409;9144434;9178750;9286700;9343422;9390517;9418854;9418898;9622090;9722618;9770464;9774344;9786951;9808461;9822744;9858528;9858769;9988769", "class_list": "", "function": "A Ubiquitin-Dependent Switch on MEF2D Senses Pro-Metastatic Niche Signals to Facilitate Intrahepatic Metastasis of Liver Cancer., [RefSeq, PubMed]; Direct regulation of FNIP1 and FNIP2 by MEF2 sustains MTORC1 activation and tumor progression in pancreatic cancer., [RefSeq, PubMed]; MEF2D facilitates liver metastasis of gastric cancer cells through directly inducing H1X under IL-13 stimulation., [RefSeq, PubMed]; Myxoid epithelioid smooth muscle tumor of the vulva: A distinct entity with MEF2D::NCOA2 gene fusion., [RefSeq, PubMed]; This gene is a member of the myocyte-specific enhancer factor 2 (MEF2) family of transcription factors. Members of this family are involved in control of muscle and neuronal cell differentiation and development, and are regulated by class II histone deacetylases. Fusions of the encoded protein with Deleted in Azoospermia-Associated Protein 1 (DAZAP1) due to a translocation have been found in an acute lymphoblastic leukemia cell line, suggesting a role in leukemogenesis. The encoded protein may also be involved in Parkinson disease and myotonic dystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]., [RefSeq]; Transcriptional activator which binds specifically to the MEF2 element, 5'-YTA[AT](4)TAR-3', found in numerous muscle-specific, growth factor- and stress-induced genes. Mediates cellular functions not only in skeletal and cardiac muscle development, but also in neuronal differentiation and survival. Plays diverse roles in the control of cell growth, survival and apoptosis via p38 MAPK signaling in muscle-specific and/or growth factor-related transcription. Plays a critical role in the regulation of neuronal apoptosis (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; [Clinical characteristics and outcomes of childhood B-ALL with ZNF384 and MEF2D rearrangements]., [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": 1, "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": 20, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 4, "glyco_site_count": 20, "binding_glycan_count": 0, "secondary_ac_list": "D3DVC0;Q14815;Q5T9U5;Q5T9U6", "ec_number_list": "", "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0046983 protein dimerization activity;GO:0042826 histone deacetylase 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_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0007399 nervous system development;GO:0030154 cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 33.5, "record_id": "Q14814-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86YW9-1", "uniprot_id": "MD12L_HUMAN", "mass": 240120.0, "length": 2145, "protein_name": "Mediator of RNA polymerase II transcription subunit 12-like protein", "gene_name": "MED12L", "organism": "Human", "refseq_name": "mediator of RNA polymerase II transcription subunit 12-like protein isoform 2", "refseq_ac": "NP_443728", "gene_names_uniprotkb": "MED12L; KIAA1635; PRO0314; TNRC11L; TRALPUSH; TRALP", "gene_names_refseq": "MED12L; NIZIDS; NOPAR; TNRC11L; TRALPUSH; TRALP", "protein_names_uniprotkb": "Mediator of RNA polymerase II transcription subunit 12-like protein; Mediator complex subunit 12-like protein; Thyroid hormone receptor-associated-like protein; Trinucleotide repeat-containing gene 11 protein-like", "protein_names_refseq": "mediator complex subunit 12 like; mediator of RNA polymerase II transcription subunit 12-like protein isoform 2; mediator of RNA polymerase II transcription, subunit 12 homolog-like; no opposite paired repeat protein; thyroid hormone receptor-associated-like protein; trinucleotide repeat-containing gene 11 protein-like", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970); Nizon-Isidor syndrome (MONDO:MONDO:0030030)", "pathway": " (hsa:116931)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "11237011;11483580;11524702;18669648;19913121;20628086;24715725;26154972;26768311;29557506;30379171;30429286;31155615;31844290;32157095;32357974;32387766;33141586;33298915;33392160;34509645;35051231;35580925;36215666;37883018;38735287", "class_list": "", "function": "May be a 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 (By similarity)., [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]; Rare MED12L Variants Are Associated with Susceptibility to Guttate Psoriasis in the Han Chinese Population., [RefSeq, PubMed]; The protein encoded by this gene is part of the Mediator complex, which is involved in transcriptional coactivation of nearly all RNA polymerase II-dependent genes. The Mediator complex links gene-specific transcriptional activators with the basal transcription machinery. [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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "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": "Q96PC7;Q96PC8;Q9H9M5;Q9HCD7;Q9UI69", "ec_number_list": "", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0008013 beta-catenin binding;GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0016592 mediator complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q86YW9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N1G4-1", "uniprot_id": "LRC47_HUMAN", "mass": 63473.0, "length": 583, "protein_name": "Leucine-rich repeat-containing protein 47", "gene_name": "LRRC47", "organism": "Human", "refseq_name": "leucine-rich repeat-containing protein 47", "refseq_ac": "NP_065761", "gene_names_uniprotkb": "LRRC47; KIAA1185", "gene_names_refseq": "LRRC47", "protein_names_uniprotkb": "Leucine-rich repeat-containing protein 47", "protein_names_refseq": "leucine-rich repeat-containing protein 47", "tax_id": 9606, "disease": "", "pathway": " (hsa:57470)", "pathway_count": 1, "publication_count": 76, "publication_id_list": "11237011;16959974;17081983;17322306;17924679;18452278;18669648;18991276;19413330;19651622;19690332;20058876;20068231;20166139;21406692;22223895;23186163;23301498;23481700;24275569;24366607;25576301;25645385;26758079;27058226;27862975;27920218;28510447;28832583;28904123;29242379;29351928;29557506;29632046;29632711;29789417;30315122;30429286;30524438;30779550;31154438;31222486;31530632;31844290;32157095;32161166;32350084;32357974;32387766;32488085;32938616;32983136;33141586;33214551;33298915;33592498;33691108;33912179;33968037;33981976;34019948;34087483;34171305;34357683;35008409;35051231;35251023;35318648;35580925;36010968;36215666;36241641;37217939;37938771;40596516;40914422", "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": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "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": "Q9ULN5", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0004826 phenylalanine-tRNA ligase activity", "go_cellular_component": "", "go_biological_process": "GO:0006432 phenylalanyl-tRNA aminoacylation", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q8N1G4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92539-1", "uniprot_id": "LPIN2_HUMAN", "mass": 99399.0, "length": 896, "protein_name": "Phosphatidate phosphatase LPIN2", "gene_name": "LPIN2", "organism": "Human", "refseq_name": "phosphatidate phosphatase LPIN2", "refseq_ac": "NP_055461", "gene_names_uniprotkb": "LPIN2; KIAA0249", "gene_names_refseq": "CRMO1; LPIN2; MJDS", "protein_names_uniprotkb": "Phosphatidate phosphatase LPIN2; 3.1.3.4; Lipin-2", "protein_names_refseq": "phosphatidate phosphatase LPIN2", "tax_id": 9606, "disease": "Majeed syndrome (Disease Ontology:DOID:0061224); myoglobinuria (Disease Ontology:DOID:0080108); lipid metabolism disorder (Disease Ontology:DOID:3146); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:9663); (R-HSA-1483191); (R-HSA-1483213); (R-HSA-4419969); (R-HSA-75109)", "pathway_count": 5, "publication_count": 132, "publication_id_list": "10100195;10191259;10677542;10893425;11044454;11068039;11237011;11420179;11481335;11672446;11698453;12055623;12216837;12221122;12618427;12824082;14521909;14970677;14973250;15175005;15715662;15845384;15862761;15889145;15911624;15994876;16861033;17007874;17081983;17132865;17158099;17420445;17478478;17561512;18088087;18238778;18583706;18694939;18718904;19336658;19413330;19494125;19494126;19651622;19915674;20058876;20068231;20338778;20643956;20876142;21081492;21413788;2188730;2188731;21926997;22134922;22241472;22706990;22986494;23186163;23328280;2344612;23481700;23901139;24275569;24714562;24732803;24828044;25576301;25838202;25892735;26005868;26048993;26154972;26375851;26728094;26945070;26992070;27846572;27920218;28218747;28228285;28821867;28832583;28834231;28904123;29242379;29437277;29493099;29508533;29557506;29632711;29769354;29786170;30315122;30410026;30429286;3057511;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32488085;32502341;32897882;32938616;32983136;33298915;33314777;33592498;33596934;33717175;33912179;33968037;33981976;34171305;34932366;35051231;35561310;35580925;36241641;36284347;37865862;37929625;37938771;8034666;8463284;9083101;9593753", "class_list": "", "function": "Acts as a magnesium-dependent phosphatidate phosphatase enzyme which catalyzes the conversion of phosphatidic acid to diacylglycerol during triglyceride, phosphatidylcholine and phosphatidylethanolamine biosynthesis in the endoplasmic reticulum membrane. Plays important roles in controlling the metabolism of fatty acids at different levels. Also acts as a nuclear transcriptional coactivator for PPARGC1A to modulate lipid metabolism., [UniProtKB, UniProtKB]; Identification of lipidomic profiles associated with drug-resistant prostate cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; LPIN2 -related Majeed syndrome: report of two Indian patients with novel variants in LPIN2 and review of literature. Review article, [RefSeq, PubMed]; LPIN2 gene was excluded as a candidate for myopia 2 (MYP2), but the SNPs detected in this study will aid in future mapping and association studies involving this gene., [RefSeq, PubMed]; Lipin-2 regulates the antiviral and anti-inflammatory responses to interferon., [RefSeq, PubMed]; Mouse studies suggest that this gene functions during normal adipose tissue development and may play a role in human triglyceride metabolism. This gene represents a candidate gene for human lipodystrophy, characterized by loss of body fat, fatty liver, hypertriglyceridemia, and insulin resistance. [provided by RefSeq, Jul 2008]., [RefSeq]; Novel Majeed Syndrome-Causing LPIN2 Mutations Link Bone Inflammation to Inflammatory M2 Macrophages and Accelerated Osteoclastogenesis., [RefSeq, PubMed]; We conclude that homozygous mutations in LPIN2 result in Majeed syndrome. Understanding the aberrant immune response in this condition will shed light on the aetiology of other inflammatory disorders of multifactorial aetiology, [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": 8, "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": "A7MD25;D3DUH3", "ec_number_list": "3.1.3.-;3.1.3.4;3.1.3.106;3.6.1.75;3.1.3.16;2.7.11.22;2.7.11.23", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0008195 phosphatidate phosphatase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006629 lipid metabolic process;GO:0009062 fatty acid catabolic process;GO:0032869 cellular response to insulin stimulus;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "Q92539-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N5H3-3", "uniprot_id": "LRA25_HUMAN", "mass": 20147.0, "length": 189, "protein_name": "Leucine repeat adapter protein 25", "gene_name": "FAM89B", "organism": "Human", "refseq_name": "leucine repeat adapter protein 25 isoform 3", "refseq_ac": "NP_001092254", "gene_names_uniprotkb": "FAM89B; Lrap25", "gene_names_refseq": "FAM89B; LRAP25; MTVR1; MTVR", "protein_names_uniprotkb": "Leucine repeat adapter protein 25", "protein_names_refseq": "leucine repeat adapter protein 25 isoform 3; leucine repeat adapter protein 25; leucine repeat adaptor protein 25; mammary tumor virus receptor homolog 1; protein FAM89B", "tax_id": 9606, "disease": "", "pathway": " (hsa:23625)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11958456;20068231;24275569;25107909;27846572;27920218;28832583;29242379;32938616;33912179", "class_list": "", "function": "Identified two human genes, Mtvr1 and Mtvr2, encoding proteins highly related to the Mouse Mammary Tumor Virus receptor [Mtvr1] [Mtvr2], [RefSeq, PubMed]; Negatively regulates TGF-beta-induced signaling; in cooperation with SKI prevents the translocation of SMAD2 from the nucleus to the cytoplasm in response to TGF-beta. Acts as an adapter that mediates the specific recognition of LIMK1 by CDC42BPA and CDC42BPB in the lamellipodia. LRAP25-mediated CDC42BPA/CDC42BPB targeting to LIMK1 and the lamellipodium results in LIMK1 activation and the subsequent phosphorylation of CFL1 which is important for lamellipodial F-actin regulation., [UniProtKB, UniProtKB]; The functional relevance of the LRAP25-MRCK complex in LIMK1-cofilin signaling and the importance of LRAP adaptors as key determinants of MRCK cellular localization and downstream specificities., [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": "E9PB01;E9PL72;Q6PJ27", "ec_number_list": "", "go_molecular_function": "GO:0001222 transcription corepressor binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0030027 lamellipodium", "go_biological_process": "GO:0030335 positive regulation of cell migration;GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway;GO:0030010 establishment of cell polarity;GO:0060392 negative regulation of SMAD protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q8N5H3-3", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N8F7-1", "uniprot_id": "LSME1_HUMAN", "mass": 14462.0, "length": 131, "protein_name": "Leucine-rich single-pass membrane protein 1", "gene_name": "LSMEM1", "organism": "Human", "refseq_name": "leucine-rich single-pass membrane protein 1", "refseq_ac": "NP_001127940", "gene_names_uniprotkb": "LSMEM1; C7orf53", "gene_names_refseq": "C7orf53; LSMEM1", "protein_names_uniprotkb": "Leucine-rich single-pass membrane protein 1", "protein_names_refseq": "leucine-rich single-pass membrane protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:286006)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "32488085", "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": "Q49AR6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q8N8F7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q969L4-1", "uniprot_id": "LSM10_HUMAN", "mass": 14080.0, "length": 123, "protein_name": "U7 snRNA-associated Sm-like protein LSm10", "gene_name": "LSM10", "organism": "Human", "refseq_name": "U7 snRNA-associated Sm-like protein LSm10", "refseq_ac": "NP_116270", "gene_names_uniprotkb": "LSM10", "gene_names_refseq": "LSM10; MST074; MSTP074", "protein_names_uniprotkb": "U7 snRNA-associated Sm-like protein LSm10", "protein_names_refseq": "U7 snRNA-associated Sm-like protein LSm10; U7 snRNP-specific Sm-like protein LSM10", "tax_id": 9606, "disease": "", "pathway": " (hsa:84967); (R-HSA-111367); (R-HSA-73856); (R-HSA-77588)", "pathway_count": 4, "publication_count": 43, "publication_id_list": "11574479;16087681;16914750;19277982;24366607;25418920;25576301;26154972;26811146;26992070;27600516;28228285;28289156;28832583;28904123;29242379;29393594;29632046;30524438;31217245;31530632;31819999;31844290;32265295;32357974;32387766;32488085;32502341;32897882;32938616;33298915;33592498;33912179;33968037;33981976;34087483;35051231;35254053;35580925;36010968;39894887;40596516;9049306", "class_list": "", "function": "Appears to function in the U7 snRNP complex that is involved in histone 3'-end processing. Increases U7 snRNA levels but not histone 3'-end pre-mRNA processing activity, when overexpressed. Required for cell cycle progression from G1 to S phases. Binds specifically to U7 snRNA. Binds to the downstream cleavage product (DCP) of histone pre-mRNA in a U7 snRNP dependent manner., [UniProtKB, PubMed]; FLASH plays two roles in 3' end processing of histone pre-mRNAs: It interacts with Lsm11 to form a docking platform for the polyadenylation factors, and it cooperates with SLBP to recruit U7 snRNP to histone pre-mRNA., [RefSeq, PubMed]; Lsm10 and Lsm11, which replace the Sm proteins D1 and D2 in the histone RNA processing U7 snRNPs, associate with pICln in vitro and in vivo without receiving sDMA modifications and with PRMT5 and SMN complexes, [RefSeq, PubMed]; Purified U7 snRNPs lack the Sm proteins D1 and D2 but contain Lsm10, a new 14 kDa Sm D1-like protein., [RefSeq, PubMed]; The subnuclear organization of histone gene regulatory proteins and 3' end processing factors (NPAT/LSM10) of normal somatic and embryonic stem cells is compromised in selected human cancer cell types., [RefSeq, PubMed]; While the molecular basis for this altered cleavage activity is unknown, one possibility is that binding of Lsm10 and Lsm11 to the spliceosomal Sm site affects the overall geometry of the U7-specific Sm ring, resulting in misalignment of the CPSF73 endonuclease with the substrate., [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": 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": "", "ec_number_list": "", "go_molecular_function": "GO:0071208 histone pre-mRNA DCP binding;GO:0071209 U7 snRNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0016604 nuclear body;GO:0015030 Cajal body;GO:0005683 U7 snRNP;GO:0071254 cytoplasmic U snRNP body", "go_biological_process": "GO:0036261 7-methylguanosine cap hypermethylation;GO:0008380 RNA splicing;GO:1900087 positive regulation of G1/S transition of mitotic cell cycle;GO:0006398 mRNA 3'-end processing by stem-loop binding and cleavage;GO:0071045 nuclear histone mRNA catabolic process", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q969L4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96NW7-4", "uniprot_id": "LRRC7_HUMAN", "mass": 177133.0, "length": 1575, "protein_name": "Leucine-rich repeat-containing protein 7", "gene_name": "LRRC7", "organism": "Human", "refseq_name": "leucine-rich repeat-containing protein 7 isoform 11", "refseq_ac": "NP_001357714", "gene_names_uniprotkb": "LRRC7; KIAA1365; LAP1", "gene_names_refseq": "DENSIN; LRRC7; MRD77", "protein_names_uniprotkb": "Leucine-rich repeat-containing protein 7; Densin-180; Densin; Protein LAP1", "protein_names_refseq": "densin-180; leucine-rich repeat-containing protein 7 isoform 11; leucine-rich repeat-containing protein 7", "tax_id": 9606, "disease": "cocaine dependence (Disease Ontology:DOID:9975); intellectual developmental disorder, autosomal dominant 77 (MONDO:MONDO:0980748)", "pathway": " (R-HSA-438066); (R-HSA-442982); (R-HSA-5673001); (R-HSA-6798695); (R-HSA-9609736); (R-HSA-9617324); (R-HSA-9620244)", "pathway_count": 7, "publication_count": 75, "publication_id_list": "10373510;10508167;10869344;11027663;11090077;11136978;11313946;11546808;11702783;11729199;12032311;12094235;12121613;12525888;12807427;12815021;14506247;14622581;14707138;15356145;1545823;15546878;16627759;16684964;16959974;1716764;17855605;17997397;17998941;18775330;1898771;19279408;19920141;20068231;20478380;21102635;21372320;21779497;21779505;21993244;22569528;22589270;22750304;23103841;23303910;23443682;23575685;23650620;24897931;24937142;25219551;25781681;26085527;28130356;28449373;28657654;28778966;29351928;30590034;31135801;39256359;6148751;7809086;7935463;7972015;8052307;8394845;8493579;8665852;8692836;8710374;8939933;9604935;9648857;9927426", "class_list": "", "function": "A novel splice variant, LRRC7, of densin-180 is located on 1p31 and consists of 8 exons. Unlike wild type, not brain-specific., [RefSeq, PubMed]; Adapter protein that is required for correct postsynapse architecture and regulates postsynaptic plasticity through interactions with different partners (PubMed:11729199, PubMed:39256359). Through its interaction with CACNA1C, it enhances trafficking of voltage-dependent L-type calcium channels to the dendritic cell membrane and increases channel postsynaptic clustering, thereby facilitating excitatory calcium signaling (By similarity). It also serves as a scaffold that brings CAMK2A and PPP1CA into close proximity, probably facilitating rapid dephosphorylation of CAMK2A by PPP1CA and influencing CAMK2A-mediated regulation of postsynaptic plasticity (PubMed:39256359). Necessary for DISC1 and GRM5 localization to postsynaptic density complexes and for both N-methyl D-aspartate receptor-dependent and metabotropic glutamate receptor-dependent long term synaptic depression (By similarity)., [UniProtKB, UniProtKB, PubMed]; Densin-180 co-localized with delta-catenin/NPRAP at synapses in delta-catenin/NPRAP and may be involved in organization of the synaptic cell-cell junction through interaction with the delta-catenin/NPRAP-N-cadherin complex, [RefSeq, PubMed]; Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors. 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": 14, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "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": "A0A494C1A4;Q5VXC2;Q5VXC3;Q68D07;Q86VE8;Q8WX20;Q9P2I2", "ec_number_list": "", "go_molecular_function": "GO:0019901 protein kinase binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005829 cytosol;GO:0005912 adherens junction;GO:0014069 postsynaptic density;GO:0016323 basolateral plasma membrane", "go_biological_process": "GO:0098887 neurotransmitter receptor transport, endosome to postsynaptic membrane;GO:0010976 positive regulation of neuron projection development;GO:0098609 cell-cell adhesion;GO:0043113 receptor clustering;GO:0045197 establishment or maintenance of epithelial cell apical/basal polarity", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q96NW7-4", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96T17-1", "uniprot_id": "MA7D2_HUMAN", "mass": 81965.0, "length": 732, "protein_name": "MAP7 domain-containing protein 2", "gene_name": "MAP7D2", "organism": "Human", "refseq_name": "MAP7 domain-containing protein 2 isoform 1", "refseq_ac": "NP_001161937", "gene_names_uniprotkb": "MAP7D2", "gene_names_refseq": "MAP7D2", "protein_names_uniprotkb": "MAP7 domain-containing protein 2", "protein_names_refseq": "MAP7 domain containing 2 brain; MAP7 domain containing 2 protein varaint 1; MAP7 domain containing 2 protein varaint 2; MAP7 domain-containing protein 2 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:256714)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "16959974;19608861;23481700;24714562;26992070;29242379;29557506;30784582;31092671;31844290;32157095;32387766;35051231", "class_list": "", "function": "Microtubule-stabilizing protein that plays a role in the control of cell motility and neurite outgrowth via direct binding to the microtubule (By similarity). Acts as a critical cofactor for kinesin transport. In the proximal axon, regulates kinesin-1 family members, KIF5A, KIF5B and KIF5C recruitment to microtubules and contributes to kinesin-1-mediated transport in the axons (By similarity)., [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": 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": "B7Z2J8;B7Z3S7;B9EGC7;C9JMA4;C9JYW0;Q5EBN1;Q5JPS7;Q6PIC7;Q8N792", "ec_number_list": "", "go_molecular_function": "GO:0008017 microtubule binding;GO:0019894 kinesin binding;GO:0140778 microtubule stabilizing activity", "go_cellular_component": "GO:0005813 centrosome;GO:0005874 microtubule;GO:0030424 axon;GO:0015630 microtubule cytoskeleton;GO:0043005 neuron projection", "go_biological_process": "GO:0000226 microtubule cytoskeleton organization;GO:0061564 axon development", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q96T17-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BY71-1", "uniprot_id": "LRRC3_HUMAN", "mass": 28108.0, "length": 257, "protein_name": "Leucine-rich repeat-containing protein 3", "gene_name": "LRRC3", "organism": "Human", "refseq_name": "leucine-rich repeat-containing protein 3 precursor", "refseq_ac": "NP_112153", "gene_names_uniprotkb": "LRRC3; C21orf102; LRRC3A; PRO31982", "gene_names_refseq": "C21orf102; C21orf30; LRRC3DN; LRRC3", "protein_names_uniprotkb": "Leucine-rich repeat-containing protein 3", "protein_names_refseq": "LRRC3 downstream neighbor (non-protein coding); intronless long ORF, AL117578; leucine-rich repeat-containing protein 3 precursor; leucine-rich repeat-containing protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:81543)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "12036297;12975309;20494980;29242379;29557506;30379171;32488085;32938616;33968037;35051231;35494241", "class_list": "", "function": "The C21orf30 distal promoter contains an activating cis-regulatory element that is responsive to serum depletion according to promoter reporter assays in HEK 293 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": 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": 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": "Q0VDJ2", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q9BY71-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y6Y9-1", "uniprot_id": "LY96_HUMAN", "mass": 18546.0, "length": 160, "protein_name": "Lymphocyte antigen 96", "gene_name": "LY96", "organism": "Human", "refseq_name": "lymphocyte antigen 96 isoform 2 precursor", "refseq_ac": "NP_001182726", "gene_names_uniprotkb": "LY96; ESOP1; MD2", "gene_names_refseq": "ESOP-1; LY96; MD-2; MD2; ly-96", "protein_names_uniprotkb": "Lymphocyte antigen 96; ESOP-1; Ly-96; Protein MD-2", "protein_names_refseq": "lymphocyte antigen 96 isoform 2 precursor; myeloid differentiation protein-2; protein MD-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:23643); (R-HSA-1236974); (R-HSA-140534); (R-HSA-166016); (R-HSA-166058); (R-HSA-166166); (R-HSA-2562578); (R-HSA-5602498); (R-HSA-5603041); (R-HSA-5686938); (R-HSA-936964); (R-HSA-937041); (R-HSA-937072); (R-HSA-9707616); (R-HSA-975163); (R-HSA-9820960); (R-HSA-9824878); (R-HSA-9833110); (R-HSA-9918481)", "pathway_count": 19, "publication_count": 219, "publication_id_list": "10198158;10201950;10359581;10381560;10465784;10702308;10882101;10891475;11057907;11160242;11274165;11387216;11435474;11477410;11509636;11544325;11544529;11593030;11607032;11706042;11724772;11747608;11960013;12110890;12130498;12138165;12140561;12181749;12214235;12242293;12297423;12356737;12447441;12447442;12471095;12511571;12609980;12620240;12637671;12642668;12692549;12724322;12752666;12817025;12855817;14517278;14519844;14556004;14625308;14703513;14739303;14762106;14976261;15084397;15175654;15210742;15276183;15327770;15585605;15596121;15665827;15761026;15814722;15944945;16024789;16115877;16186825;16213021;16260493;16303959;16306936;16306937;16439361;16467847;16547522;16603398;16751103;16754682;16757566;16834340;16855214;16878026;16964262;17047224;17135271;17141195;17157040;17485511;17496917;17526488;17569869;17599067;17726518;17767165;17803912;17823124;17878161;17878374;17890055;17893200;18006707;18037887;18070880;18070982;18222170;18233961;18297073;18354232;18420935;18438411;18559343;18669862;18692471;18810425;18829464;18990700;19112167;19217269;19224918;19278658;19498957;19506249;19509286;19592493;19592497;19656901;19675569;19710360;19898473;20037584;20047764;20308068;20410276;20473308;20485341;20581824;20817722;20966070;21479263;21606490;21737329;21737330;21862579;21871094;21911577;21931591;22078883;22090124;22123964;22153078;22158869;22344226;22454496;22489132;23446148;23453969;23453971;23453972;23613522;24316379;2462607;2477488;24833748;24840642;25083866;2539258;25576301;25825441;25854864;25880347;26092250;27108190;27538435;27742543;27754849;28111073;28218747;28228285;28832583;29427996;29902443;30115681;30315122;30599162;31608988;31748741;31844290;31848261;32157095;32354867;32357974;32488085;32695117;32983136;33177556;3345742;33841413;33912179;34357683;35051231;35215846;3537192;35502635;35580925;36102648;37885279;38135694;7685021;8415693;8622974;8837778;8887638;9008162;9079689;9144434;9430229;9566918;9665271;9744859", "class_list": "", "function": "Binds bacterial lipopolysaccharide (LPS) (PubMed:17569869, PubMed:17803912). Cooperates with TLR4 in the innate immune response to bacterial lipopolysaccharide (LPS), and with TLR2 in the response to cell wall components from Gram-positive and Gram-negative bacteria (PubMed:11160242, PubMed:11593030). Enhances TLR4-dependent activation of NF-kappa-B (PubMed:10359581). Cells expressing both LY96 and TLR4, but not TLR4 alone, respond to LPS (PubMed:10359581)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Insights into the molecular basis and mechanism of heme-triggered TLR4 signalling: The role of heme-binding motifs in TLR4 and MD2., [RefSeq, PubMed]; Myeloid differentiation factor-2 activates monocytes in patients with dilated cardiomyopathy., [RefSeq, PubMed]; Myeloid differentiation factor-2/LY96, a potential predictive biomarker of metastasis and poor outcomes in prostate cancer: clinical implications as a potential therapeutic target., [RefSeq, PubMed]; Soluble MD-2 and Heme in Sickle Cell Disease Plasma Promote Pro-Inflammatory Signaling in Endothelial Cells. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein which associates with toll-like receptor 4 on the cell surface and confers responsiveness to lipopolysaccyaride (LPS), thus providing a link between the receptor and LPS signaling. Studies of the mouse ortholog suggest that this gene may be involved in endotoxin neutralization. Alternative splicing results in multiple transcript variants encoding different isoforms. [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": 2, "mined_n_glycosites": 2, "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": 1, "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": "B3Y6A5;E5RJJ7", "ec_number_list": "", "go_molecular_function": "GO:0015026 coreceptor activity;GO:0001530 lipopolysaccharide binding;GO:0035662 Toll-like receptor 4 binding;GO:0001875 lipopolysaccharide immune receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0010008 endosome membrane;GO:0046696 lipopolysaccharide receptor complex", "go_biological_process": "GO:0006954 inflammatory response;GO:0007166 cell surface receptor signaling pathway;GO:0032496 response to lipopolysaccharide;GO:0045087 innate immune response;GO:0006968 cellular defense response", "synthesized_glycan_count": 0, "hit_score": 22.2, "record_id": "Q9Y6Y9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0JLT2-1", "uniprot_id": "MED19_HUMAN", "mass": 26273.0, "length": 244, "protein_name": "Mediator of RNA polymerase II transcription subunit 19", "gene_name": "MED19", "organism": "Human", "refseq_name": "mediator of RNA polymerase II transcription subunit 19 isoform 1", "refseq_ac": "NP_001304007", "gene_names_uniprotkb": "MED19; LCMR1", "gene_names_refseq": "DT2P1G7; LCMR1; MED19AS; MED19", "protein_names_uniprotkb": "Mediator of RNA polymerase II transcription subunit 19; Lung cancer metastasis-related protein 1; Mediator complex subunit 19", "protein_names_refseq": "lung cancer metastasis-related protein 1; mediator of RNA polymerase II transcription subunit 19 isoform 1; mediator of RNA polymerase II transcription subunit 19; mediator of RNA polymerase II transcription, subunit 19 homolog; putative mediator subunit MED19AS protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:219541); (R-HSA-1989781); (R-HSA-381340); (R-HSA-9833110)", "pathway_count": 4, "publication_count": 87, "publication_id_list": "10075656;10425206;10777541;11095972;11237011;11267664;11607032;11872672;12118000;12177166;12213831;12505311;12582161;12584197;12829629;14976261;15067378;15130092;15175163;15273253;15635043;15850785;15919796;16380219;16972786;17011499;17081983;17980149;18420935;18540824;18669648;18719978;18848529;18931025;19043829;19088433;19115207;19172745;19710929;19934321;20068231;20101261;20110263;20410276;22090124;22424782;23186163;23239344;24196956;25576301;25854864;28228285;29557506;30315122;31844290;32357974;32387766;32488085;32502341;32938616;33141586;33298915;33912179;33968037;33981976;34019948;34038190;34509645;35051231;35184651;36010968;36102648;36215666;37880276;7685352;7892212;8325954;8643605;8647822;8706692;8770873;8970730;9012850;9065481;9454824;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]; Lung cancer metastasis-related protein 1 promotes the transferring from advanced metastatic prostate cancer to castration-resistant prostate cancer by activating the glucocorticoid receptor alpha signal pathway., [RefSeq, PubMed]; MED19 encodes two unique protein isoforms that confer prostate cancer growth under low androgen through distinct gene expression programs. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a subunit of the Mediator complex, which binds to gene-specific regulatory factors and provides support for the basal RNA polymerase II transcription machinery. This gene has been implicated in the growth of several types of cancer, and inhibition of its expression inhibits the growth and spread of these cancers. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]., [RefSeq]; The role of mediator complex subunit 19 in 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": 2, "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": "Q8IV02;Q8IZD1", "ec_number_list": "", "go_molecular_function": "GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016604 nuclear body;GO:0016592 mediator complex", "go_biological_process": "GO:0060261 positive regulation of transcription initiation by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0032968 positive regulation of transcription elongation by RNA polymerase II;GO:0051123 RNA polymerase II preinitiation complex assembly;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "A0JLT2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A1L020-1", "uniprot_id": "MEX3A_HUMAN", "mass": 54173.0, "length": 520, "protein_name": "RNA-binding protein MEX3A", "gene_name": "MEX3A", "organism": "Human", "refseq_name": "RNA-binding protein MEX3A", "refseq_ac": "NP_001087194", "gene_names_uniprotkb": "MEX3A; RKHD4", "gene_names_refseq": "MEX-3A; MEX3A; RKHD4; RNF162", "protein_names_uniprotkb": "RNA-binding protein MEX3A; RING finger and KH domain-containing protein 4", "protein_names_refseq": "RING finger and KH domain-containing protein 4; RNA-binding protein MEX3A; ring finger and KH domain containing 4; ring finger and KH domain containing protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:92312)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "17267406;19664994;23186163;23301498;26992070;28834231;29242379;29393594;31844290;32157095;32357974;32738346;32792503;32938616;33592498;35051231;37433992;37460832;37529875;38565536;38914858;40307207", "class_list": "", "function": "MEX3A determines in vivo hepatocellular carcinoma progression and induces resistance to sorafenib in a Hippo-dependent way., [RefSeq, PubMed]; MEX3A induces the development of thyroid cancer via targeting CREB1., [RefSeq, PubMed]; MEX3A promotes colorectal cancer migration, invasion and EMT via regulating the Wnt/beta-catenin signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; MEX3A promotes triple negative breast cancer proliferation and migration via the PI3K/AKT signaling pathway., [RefSeq, PubMed]; Mex-3 RNA binding family member A (MEX3A)/circMPP6 complex promotes colorectal cancer progression by inhibiting autophagy. Publication Status: Online-Only, [RefSeq, PubMed]; Mex3a interacts with LAMA2 to promote lung adenocarcinoma metastasis via PI3K/AKT pathway. Publication Status: Online-Only, [RefSeq, PubMed]; RNA binding protein, may be involved in post-transcriptional regulatory mechanisms., [UniProtKB]; The RNA binding protein MEX3A promotes tumor progression of breast cancer by post-transcriptional regulation of IGFBP4., [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": 3, "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": 3, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0000932 P-body", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "A1L020-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NDR6-1", "uniprot_id": "ME3L1_HUMAN", "mass": 30204.0, "length": 274, "protein_name": "Putative homeobox protein Meis3-like 1", "gene_name": "MEIS3P1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "MEIS3P1", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative homeobox protein Meis3-like 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "restless legs syndrome (Disease Ontology:DOID:0050425); leukemia (Disease Ontology:DOID:1240)", "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": 2, "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:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0001525 angiogenesis;GO:0008284 positive regulation of cell population proliferation;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": 0.1, "record_id": "A6NDR6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A8K0S8-1", "uniprot_id": "ME3L2_HUMAN", "mass": 39220.0, "length": 358, "protein_name": "Putative homeobox protein Meis3-like 2", "gene_name": "MEIS3P2", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "MEIS3P2", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative homeobox protein Meis3-like 2", "protein_names_refseq": "", "tax_id": 9606, "disease": "restless legs syndrome (Disease Ontology:DOID:0050425); leukemia (Disease Ontology:DOID:1240)", "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": 2, "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:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0001525 angiogenesis;GO:0008284 positive regulation of cell population proliferation;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": 0.1, "record_id": "A8K0S8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P10916-1", "uniprot_id": "MLRV_HUMAN", "mass": 18789.0, "length": 166, "protein_name": "Myosin regulatory light chain 2, ventricular/cardiac muscle isoform", "gene_name": "MYL2", "organism": "Human", "refseq_name": "myosin regulatory light chain 2, ventricular/cardiac muscle isoform isoform 1", "refseq_ac": "NP_000423", "gene_names_uniprotkb": "MYL2; MLC2", "gene_names_refseq": "CMH10; MFM12; MLC-2s/v; MLC-2v; MLC-2; MLC2; MYL2", "protein_names_uniprotkb": "Myosin regulatory light chain 2, ventricular/cardiac muscle isoform; Cardiac myosin light chain 2; MLC-2s/v; MLC-2v; MLC-2; Myosin light chain 2, slow skeletal/ventricular muscle isoform; Ventricular myosin light chain 2", "protein_names_refseq": "RLC of myosin; S15D myosin regulatory light chain 2; T160D myosin regulatory light chain 2; cardiac myosin light chain 2; cardiac ventricular myosin light chain 2; myosin regulatory light chain 2, ventricular/cardiac muscle isoform isoform 1; myosin, light chain 2, regulatory, cardiac, slow; myosin, light polypeptide 2, regulatory, cardiac, slow; regulatory light chain of myosin; slow cardiac myosin regulatory light chain 2", "tax_id": 9606, "disease": "infantile-onset myofibrillar myopathy 12 with cardiomyopathy (Disease Ontology:DOID:0051044); familial hypertrophic cardiomyopathy (Disease Ontology:DOID:0080326); hypertrophic cardiomyopathy 10 (Disease Ontology:DOID:0110316)", "pathway": " (hsa:4633); (R-HSA-390522)", "pathway_count": 2, "publication_count": 32, "publication_id_list": "10747208;11102452;11237011;11773029;12404107;12707239;12818575;17043135;18648664;20038585;20445002;23271734;23365102;25412762;2704627;27169750;28013338;29557506;31154438;32453731;32938616;33156861;33784000;35051231;35177471;37488325;38474189;7498159;8287067;8673105;9418861;9535554", "class_list": "", "function": "An autosomal recessive model of inheritance for MYL2 loss-of-function variants in infantile Hypertrophic cardiomyopathy highlights the variant-specific molecular differences found in MYL2-associated cardiomyopathy. Publication Status: Online-Only, [RefSeq, PubMed]; Contractile protein that plays a role in heart development and function (PubMed:23365102, PubMed:32453731). Following phosphorylation, plays a role in cross-bridge cycling kinetics and cardiac muscle contraction by increasing myosin lever arm stiffness and promoting myosin head diffusion; as a consequence of the increase in maximum contraction force and calcium sensitivity of contraction force. These events altogether slow down myosin kinetics and prolong duty cycle resulting in accumulated myosins being cooperatively recruited to actin binding sites to sustain thin filament activation as a means to fine-tune myofilament calcium sensitivity to force (By similarity). During cardiogenesis plays an early role in cardiac contractility by promoting cardiac myofibril assembly (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; FOXO1 promotes endothelial cell elongation and angiogenesis by up-regulating the phosphorylation of myosin light chain 2., [RefSeq, PubMed]; Molecular basis of force-pCa relation in MYL2 cardiomyopathy mice: Role of the super-relaxed state of myosin., [RefSeq, PubMed]; Novel circular RNA circSOBP governs amoeboid migration through the regulation of the miR-141-3p/MYPT1/p-MLC2 axis in prostate cancer., [RefSeq, PubMed]; Phosphorylated CPI-17 and MLC2 as Biomarkers of Coronary Artery Spasm-Induced Sudden Cardiac Death. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a major sarcomeric protein in mammalian striated muscle. The encoded protein plays a role in embryonic heart muscle structure and function, while phosphorylation of the encoded protein is involved in cardiac myosin cycling kinetics, torsion and function in adults. Mutations in this gene are associated with hypertrophic cardiomyopathy 10 and infant-onset myopathy. [provided by RefSeq, May 2022]., [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": 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": "Q16123", "ec_number_list": "", "go_molecular_function": "GO:0003785 actin monomer binding;GO:0005509 calcium ion binding;GO:0008307 structural constituent of muscle;GO:0032036 myosin heavy chain binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0030017 sarcomere;GO:0030016 myofibril", "go_biological_process": "GO:0007507 heart development;GO:0060047 heart contraction;GO:0030308 negative regulation of cell growth;GO:0055003 cardiac myofibril assembly;GO:0060048 cardiac muscle contraction", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "P10916-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P45452-1", "uniprot_id": "MMP13_HUMAN", "mass": 53820.0, "length": 471, "protein_name": "Collagenase 3", "gene_name": "MMP13", "organism": "Human", "refseq_name": "collagenase 3 preproprotein", "refseq_ac": "NP_002418", "gene_names_uniprotkb": "MMP13", "gene_names_refseq": "CLG3; MANDP1; MDST; MMP-13; MMP13", "protein_names_uniprotkb": "Collagenase 3; 3.4.24.-; MMP-13; Matrix metalloproteinase-13", "protein_names_refseq": "collagenase 3 preproprotein; matrix metalloproteinase 13 (collagenase 3)", "tax_id": 9606, "disease": "spondyloepimetaphyseal dysplasia, Missouri type (Disease Ontology:DOID:0080030); meningococcal meningitis (Disease Ontology:DOID:0080176); prostate cancer (Disease Ontology:DOID:10283); silicosis (Disease Ontology:DOID:10325); gastric ulcer (Disease Ontology:DOID:10808); urinary bladder cancer (Disease Ontology:DOID:11054); primary biliary cholangitis (Disease Ontology:DOID:12236); vulva cancer (Disease Ontology:DOID:1245); anodontia (Disease Ontology:DOID:13714); alcoholic liver cirrhosis (Disease Ontology:DOID:14018); brain ischemia (Disease Ontology:DOID:2316); arteriosclerosis (Disease Ontology:DOID:2349); invasive ductal carcinoma (Disease Ontology:DOID:3008); ovarian carcinoma (Disease Ontology:DOID:4001); cervical cancer (Disease Ontology:DOID:4362); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); abdominal aortic aneurysm (Disease Ontology:DOID:7693); periodontitis (Disease Ontology:DOID:824); osteoarthritis (Disease Ontology:DOID:8398); degenerative disc disease (Disease Ontology:DOID:90); metaphyseal chondrodysplasia, Spahr type (MONDO:MONDO:0009597)", "pathway": " (hsa:4322); (R-HSA-1442490); (R-HSA-1474228); (R-HSA-1592389); (R-HSA-2022090); (R-HSA-8941332)", "pathway_count": 6, "publication_count": 173, "publication_id_list": "10049780;10074939;10229672;10386589;10551873;10596943;10706100;10809722;10926524;10966814;10986126;10986281;11013208;11119712;11237011;11375993;11577169;11830519;11872628;11927537;12482924;12579531;12727852;12843408;1311314;1371271;1390635;1400327;14602708;1480033;14973287;15005656;15234972;15257288;15265795;15591058;15734645;15780611;15837520;15950618;15958533;16133547;16167086;1649600;16631740;16825197;16825321;1698775;1704217;1707285;17088321;17196980;17332331;17354228;17608959;17623656;1783204;18434311;18622425;18658137;19010778;19422229;19571574;19615667;19657146;19693541;19714641;20005097;2005102;20142769;20726512;21030783;21297635;21441952;21593211;2159879;21670566;2169257;2169335;2176865;21784848;21864727;21935455;22159414;22241472;22382088;2253219;22689580;2269296;23035980;2307289;23090970;23389849;23810497;2383557;23845380;23913860;24190977;24648384;24781753;25171405;2537292;2546891;2548603;2551898;2557753;26060017;27317874;2834383;28411811;2845110;29557506;3038863;3058116;3223920;35051231;35251023;37340703;38527983;38619683;38770093;38936942;39192690;4216367;6258630;6263256;6270089;6694361;7075587;7547873;7669817;7746327;7780967;7826345;7890645;7890717;7896811;7981201;8015608;8194591;8207000;8207089;8226919;8314771;8463259;8530478;8576151;8603731;8621565;8626565;8645182;8663255;8798568;8804434;8920930;8969305;8999957;9008168;9056642;9065415;9092507;9115292;9148753;9261109;9346290;9422744;9461298;9562863;9578462;9632662;9651395;9852107;9856810", "class_list": "", "function": "Association of Clinicopathological Factors With MMP13 (rs2252070) Gene Polymorphism in Swedish Patients With Colorectal Cancer., [RefSeq, PubMed]; Inhibiting MMP13 Attenuates Deep Vein Thrombosis in a Mouse Model by Reducing the Expression of Pdpn., [RefSeq, PubMed]; MMP1, MMP9, MMP11 and MMP13 in melanoma and its metastasis - key points in understanding the mechanisms and celerity of tumor dissemination., [RefSeq, PubMed]; MMP13 Expression and Activity Suggest Its Role in Bone Resorption in Ameloblastomas., [RefSeq, PubMed]; Plays a role in the degradation of extracellular matrix proteins including fibrillar collagen, fibronectin, TNC and ACAN. Cleaves triple helical collagens, including type I, type II and type III collagen, but has the highest activity with soluble type II collagen. Can also degrade collagen type IV, type XIV and type X. May also function by activating or degrading key regulatory proteins, such as TGFB1 and CCN2. Plays a role in wound healing, tissue remodeling, cartilage degradation, bone development, bone mineralization and ossification. Required for normal embryonic bone development and ossification. Plays a role in the healing of bone fractures via endochondral ossification. Plays a role in wound healing, probably by a mechanism that involves proteolytic activation of TGFB1 and degradation of CCN2. Plays a role in keratinocyte migration during wound healing. May play a role in cell migration and in tumor cell invasion., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; TPX2 upregulates MMP13 to promote the progression of lipopolysaccharide-induced osteoarthritis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this 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. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease cleaves type II collagen more efficiently than types I and III. It may be involved in articular cartilage turnover and cartilage pathophysiology associated with osteoarthritis. Mutations in this gene are associated with metaphyseal anadysplasia. This gene is part of a cluster of MMP genes on chromosome 11. [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": 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": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 22, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8K846;B2RCZ3;Q6NWN6", "ec_number_list": "3.4.24.-;3.4.22.43;3.4.24.7;3.4.21.4;3.4.22.15;3.4.22.1;3.4.24.24;3.4.24.17;3.4.24.23;3.4.24.22;3.4.24.19;3.4.24.35;3.4.24.34;3.4.22.27;3.4.24.65;3.4.22.38;3.4.24.80", "go_molecular_function": "GO:0004175 endopeptidase activity;GO:0004222 metalloendopeptidase activity;GO:0004252 serine-type endopeptidase activity;GO:0008270 zinc ion binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031012 extracellular matrix", "go_biological_process": "GO:0006508 proteolysis;GO:0022617 extracellular matrix disassembly;GO:0030198 extracellular matrix organization;GO:1904645 response to amyloid-beta;GO:0060349 bone morphogenesis", "synthesized_glycan_count": 0, "hit_score": 17.8, "record_id": "P45452-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BXY0-1", "uniprot_id": "MAK16_HUMAN", "mass": 35369.0, "length": 300, "protein_name": "Protein MAK16 homolog", "gene_name": "MAK16", "organism": "Human", "refseq_name": "protein MAK16 homolog", "refseq_ac": "NP_115898", "gene_names_uniprotkb": "MAK16; RBM13", "gene_names_refseq": "MAK16L; MAK16; RBM13", "protein_names_uniprotkb": "Protein MAK16 homolog; NNP78; Protein RBM13", "protein_names_refseq": "NNP78; RNA binding motif protein 13; RNA binding protein; protein MAK16 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:84549)", "pathway_count": 1, "publication_count": 56, "publication_id_list": "11237011;11790298;12429849;17081983;18160138;18452278;18669648;19413330;19651622;20068231;21406692;22223895;23783831;24366607;26154972;26992070;27600516;27846572;27920218;28218747;28228285;28832583;28834231;29393594;29437277;29493099;29508533;29557506;29632046;30315122;30379171;30833945;31154438;31217245;31530632;31844290;32161166;32357974;32488085;32897882;32938616;33091337;33592498;33936100;33968037;33981976;34019948;34171305;34185709;34932366;35051231;35318648;35580925;36284347;37938771;40914422", "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": 6, "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": "B2RB44;Q5U5T1;Q86UC4;Q96SY6", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005730 nucleolus;GO:0030687 preribosome, large subunit precursor;GO:0005634 nucleus", "go_biological_process": "GO:0000460 maturation of 5.8S rRNA;GO:0000470 maturation of LSU-rRNA", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q9BXY0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P24347-1", "uniprot_id": "MMP11_HUMAN", "mass": 54590.0, "length": 488, "protein_name": "Stromelysin-3", "gene_name": "MMP11", "organism": "Human", "refseq_name": "stromelysin-3 preproprotein", "refseq_ac": "NP_005931", "gene_names_uniprotkb": "MMP11; STMY3", "gene_names_refseq": "MMP11; SL-3; ST3; STMY3", "protein_names_uniprotkb": "Stromelysin-3; 3.4.24.-; MMP-11; Matrix metalloproteinase-11; SL-3; ST3", "protein_names_refseq": "matrix metallopeptidase 11 (stromelysin 3); stromelysin III; stromelysin-3 preproprotein", "tax_id": 9606, "disease": "", "pathway": " (hsa:4320); (R-HSA-1442490); (R-HSA-1474228); (R-HSA-1592389)", "pathway_count": 4, "publication_count": 152, "publication_id_list": "10049780;10229672;10386589;10551873;10706100;10809722;10986281;11013208;11119712;11237011;11375993;11577169;11830519;11872628;11927537;12579531;12727852;12843408;1311314;1371271;1390635;1480033;14973287;15005656;15234972;15257288;15591058;15950618;15958533;16133547;1649600;16631740;16825197;16825321;16959974;1698775;1701851;1704217;1707285;17088321;17332331;17354228;17608959;1783204;18434311;18477386;18622425;18658137;19010778;19571574;19657146;19714641;2005102;20142769;21030783;21297635;21441952;21593211;2159879;21670566;2169257;2169335;2176865;21784848;21864727;21935455;22159414;22241472;22382088;2253219;2269296;23035980;2383557;23845380;2537292;2546891;2548603;2551898;25576301;2557753;26992070;27397612;28228285;2834383;2845110;28834231;29093164;29557506;29786170;29789417;3038863;3058116;31844290;3223920;32502341;32938616;33141586;33968037;34087483;34171305;34185709;35051231;35580925;35700579;36284347;37602450;37633471;37938771;39239548;39477282;4216367;6258630;6263256;6270089;6694361;7075587;7547873;7657606;7669817;7746327;7780967;7826345;7890645;7890717;7896811;7981201;8015608;8194591;8226919;8314771;8463259;8530478;8576151;8621565;8626565;8645182;8663255;8804434;8920930;8999957;9065415;9092507;9115292;9148753;9261109;9346290;9422744;9461298;9578462;9632662;9651395;9852107", "class_list": "", "function": "Cancer-associated fibroblasts drive early pancreatic cancer cell invasion via the SOX4/MMP11 signalling axis., [RefSeq, PubMed]; Impacts of Matrix Metalloproteinase-11 Genotypes on Pterygium Risk., [RefSeq, PubMed]; Linc00511 Knockdown Inhibits Lung Cancer Progression by Regulating miR-16-5p/MMP11., [RefSeq, PubMed]; Matrix Metalloproteinase 11 Promotes Migration and Invasion of Colorectal Cancer by Elevating Slug Protein. Publication Status: Online-Only, [RefSeq, PubMed]; May play an important role in the progression of epithelial malignancies., [UniProtKB]; Mechanism of miR-340-5p in laryngeal cancer cell proliferation and invasion through the lncRNA NEAT1/MMP11 axis., [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. However, the enzyme encoded by this gene is activated intracellularly by furin within the constitutive secretory pathway. Also in contrast to other MMP's, this enzyme cleaves alpha 1-proteinase inhibitor but weakly degrades structural proteins of the extracellular matrix. [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": 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": "Q5FX24;Q6PEZ6;Q9UC26", "ec_number_list": "3.4.24.-;3.4.24.7;3.4.24.24;3.4.24.17;3.4.24.23;3.4.24.22;3.4.21.75;3.4.24.35;3.4.24.34;3.4.24.65", "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0004252 serine-type endopeptidase activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005796 Golgi lumen;GO:0031012 extracellular matrix", "go_biological_process": "GO:0006508 proteolysis;GO:0022617 extracellular matrix disassembly;GO:0030198 extracellular matrix organization;GO:0030574 collagen catabolic process", "synthesized_glycan_count": 0, "hit_score": 15.3, "record_id": "P24347-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O94851-7", "uniprot_id": "MICA2_HUMAN", "mass": 219061.0, "length": 1957, "protein_name": "[F-actin]-monooxygenase MICAL2", "gene_name": "MICAL2", "organism": "Human", "refseq_name": "[F-actin]-monooxygenase MICAL2 isoform a", "refseq_ac": "NP_001269592", "gene_names_uniprotkb": "MICAL2; KIAA0750; MICAL2PV1; MICAL2PV2; MICALCL", "gene_names_refseq": "Ebitein1; MICAL-2; MICAL2PV1; MICAL2PV2; MICAL2; MICALCL; mical-cL", "protein_names_uniprotkb": "[F-actin]-monooxygenase MICAL2; 1.14.13.225; MICAL C-terminal-like protein; MICAL-2; Mical-cL; Molecule interacting with CasL protein 2", "protein_names_refseq": "ERK2-binding testicular protein 1; MICAL C-terminal like; MICAL C-terminal-like protein; [F-actin]-methionine sulfoxide oxidase MICAL2; [F-actin]-monooxygenase MICAL2 isoform a; [F-actin]-monooxygenase MICAL2; ebitein-1; flavoprotein oxidoreductase MICAL2; microtubule associated monoxygenase, calponin and LIM domain containing 2; molecule interacting with CasL protein 2; protein-methionine sulfoxide oxidase MICAL2", "tax_id": 9606, "disease": "", "pathway": " (hsa:9645)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "12110185;15694364;16675569;22331357;23186163;24440334;25576301;26992070;27552051;29242379;29343822;29786170;30379171;30524438;30779550;30833945;31154438;31848261;32161166;34096155;34106209;34650666;36064550;36284347;37217939;37938771;38326344", "class_list": "", "function": "Although MICAL1 is auto-inhibited by its C-terminal coiled-coil region, MICAL2 remains constitutively active and affects stress fibers, suggesting differential but complementary roles for MICAL1 and MICAL2 in actin microfilament regulation, [RefSeq, PubMed]; MICAL2 Contributes to Gastric Cancer Cell Proliferation by Promoting YAP Dephosphorylation and Nuclear Translocation. Publication Status: Online-Only, [RefSeq, PubMed]; MICAL2 contributes to gastric cancer cell migration via Cdc42-dependent activation of E-cadherin/beta-catenin signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; MICAL2 enhances branched actin network disassembly by oxidizing Arp3B-containing Arp2/3 complexes., [RefSeq, PubMed]; MICAL2 implies immunosuppressive features and acts as an independent and adverse prognostic biomarker in pancreatic cancer. Publication Status: Online-Only, [RefSeq, PubMed]; MICAL2-PV is likely to be involved in cancer progression of prostate cancer and could be a candidate as a novel molecular marker and/or target for treatment of prostate cancers., [RefSeq, PubMed]; MICAL2PV suppresses the formation of tunneling nanotubes and modulates mitochondrial trafficking., [RefSeq, PubMed]; Methionine monooxygenase that promotes depolymerization of F-actin by mediating oxidation of residues 'Met-44' and 'Met-47' on actin to form methionine-sulfoxide, resulting in actin filament disassembly and preventing repolymerization (PubMed:24440334, PubMed:29343822). Regulates the disassembly of branched actin networks also by oxidizing ARP3B-containing ARP2/3 complexes leading to ARP3B dissociation from the network (PubMed:34106209). Acts as a key regulator of the SRF signaling pathway elicited by nerve growth factor and serum: mediates oxidation and subsequent depolymerization of nuclear actin, leading to increase MKL1/MRTF-A presence in the nucleus and promote SRF:MKL1/MRTF-A-dependent gene transcription. Does not activate SRF:MKL1/MRTF-A through RhoA (PubMed:24440334)., [UniProtKB, PubMed, PubMed, PubMed]; The protein encoded by this gene is a monooxygenase that enhances depolymerization of F-actin and is therefore involved in cytoskeletal dynamics. The encoded protein is a regulator of the SRF signaling pathway. Increased expression of this gene has been associated with cancer progression and metastasis. [provided by RefSeq, Oct 2016]., [RefSeq]; These data show that SRF/MRTF-A signaling is regulated by MICAL-2-dependent redox regulation of nuclear actin., [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": 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": 58, "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": "A0A2R8YFA9;B4DGZ0;B7Z849;D3DQW5;G3XAC8;Q5KTR3;Q5KTR4;Q6ZW33;Q7RTP7;Q7Z3A8;Q96JU6", "ec_number_list": "1.14.13.225;1.6.3.1", "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:0003779 actin binding;GO:0046872 metal ion binding;GO:0071949 FAD binding;GO:0051019 mitogen-activated protein kinase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:0007507 heart development;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0030036 actin cytoskeleton organization;GO:0007010 cytoskeleton organization;GO:0001947 heart looping", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "O94851-7", "record_type": "protein" }, { "uniprot_canonical_ac": "P20382-1", "uniprot_id": "MCH_HUMAN", "mass": 18679.0, "length": 165, "protein_name": "Pro-MCH", "gene_name": "PMCH", "organism": "Human", "refseq_name": "pro-MCH preproprotein", "refseq_ac": "NP_002665", "gene_names_uniprotkb": "PMCH; MCH", "gene_names_refseq": "MCH; PMCH; ppMCH", "protein_names_uniprotkb": "Pro-MCH", "protein_names_refseq": "prepro-MCH; prepro-melanin-concentrating hormone; pro-MCH preproprotein; pro-MCH", "tax_id": 9606, "disease": "sleeping sickness (Disease Ontology:DOID:10112); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:5367); (R-HSA-375276); (R-HSA-416476); (R-HSA-418594)", "pathway_count": 4, "publication_count": 136, "publication_id_list": "10037747;10079109;10100623;10191087;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10567430;10604470;10727532;10854085;10861009;10899166;11007482;11015615;11322507;11385580;11457843;11562423;11683476;11742120;11753430;11773063;12120503;12427552;12540846;12719537;1280419;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;15139756;15340116;15539556;1567413;15947423;15951850;16182515;16268778;16339447;1655761;16634148;16754659;16923326;1710450;1710578;1719979;1722333;18127230;18434541;1847994;18515384;18577758;18936096;1905813;2149166;23446738;23690594;24906252;2534964;2649896;2748346;27496565;2834384;2841328;3086311;3202875;32161166;32350084;33370567;3366244;35251023;3525564;38051670;3856870;38710677;39616153;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7797512;7905839;7937899;8015379;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8326825;8373420;8381365;8383682;8395824;8406495;8440682;8463333;8503909;8615752;8664309;8666380;8702752;873923;8823230;9171878;9191099;9305846;9521323;9530155;9593744;9607765;9685625;9722565;9770463;9792798;9832121;9851594", "class_list": "", "function": "Melanin-Concentrating Hormone Is Associated With Delayed Neurocognitive Recovery in Older Adult Patients With Preoperative Sleep Disorders Undergoing Spinal Anesthesia., [RefSeq, PubMed]; Melanin-concentrating hormone and food intake control: Sites of action, peptide interactions, and appetition. Review article, [RefSeq, PubMed]; Neuropeptide ligand for the G protein-coupled receptor MCHR1 and MCHR2 that can activate both G(i/o)- and G(q/11)-dependent signaling pathways (PubMed:15340116, PubMed:38710677, PubMed:39616153). Acts as a neuromodulator in the central nervous system, promoting feeding, positive energy balance (orexigenic) and sleep. Inhibits stimulated ACTH release (lowering plasma glucocorticoids), consistent with a role in down-regulating hypothalamic-pituitary-adrenal (HPA) axis activity. Functionally antagonizes melanotropin alpha (alpha-MSH), opposing its inhibitory effect on food intake and exploratory behaviors and its stimulatory effect on the HPA axis. Antagonizes NEI-induced behavioral effects (By similarity). May also participate in spermatocyte differentiation (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Neuropeptide that modulates stress-related neuroendocrine responses and behaviors. Stimulates ACTH secretion, functionally counteracting the ACTH-suppressing action of MCH; the underlying mechanism is not fully characterized. Reduces dopamine and DOPAC release in the ventromedial nucleus. Influences differentiation of neuronal processes and affects neurofilament protein content in vitro., [UniProtKB, UniProtKB]; This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include melanin-concentrating hormone (MCH), neuropeptide-glutamic acid-isoleucine (NEI), and neuropeptide-glycine-glutamic acid (NGE). Melanin-concentrating hormone is a 19-amino acid neuropeptide that stimulates hunger and may additionally regulate energy homeostasis, reproductive function, and sleep. Pseudogenes of this gene have been identified on chromosome 5. [provided by RefSeq, Jul 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": 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": "Q16044;Q8WVG0", "ec_number_list": "", "go_molecular_function": "GO:0030354 melanin-concentrating hormone activity;GO:0031777 type 1 melanin-concentrating hormone receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0045202 synapse", "go_biological_process": "GO:0007218 neuropeptide signaling pathway;GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0007268 chemical synaptic transmission;GO:0007631 feeding behavior", "synthesized_glycan_count": 0, "hit_score": 13.7, "record_id": "P20382-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13394-1", "uniprot_id": "MB211_HUMAN", "mass": 40956.0, "length": 359, "protein_name": "Putative nucleotidyltransferase MAB21L1", "gene_name": "MAB21L1", "organism": "Human", "refseq_name": "putative nucleotidyltransferase MAB21L1", "refseq_ac": "NP_005575", "gene_names_uniprotkb": "MAB21L1; CAGR1; Nbla00126", "gene_names_refseq": "CAGR1; COFG; MAB21L1; Nbla00126", "protein_names_uniprotkb": "Putative nucleotidyltransferase MAB21L1; 2.7.7.-; Protein mab-21-like 1", "protein_names_refseq": "mab-21-like protein 1; putative nucleotidyltransferase MAB21L1", "tax_id": 9606, "disease": "microphthalmia (Disease Ontology:DOID:10629); cerebellar, ocular, craniofacial, and genital syndrome (MONDO:MONDO:0032774)", "pathway": " (hsa:4081)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11526470;12880961;15526290;23481700;27103078;27271801;29508533;30379171;30487245;32350084;32502341;33973683;35251023;36010968;36413568;36446583;36892533;37340703;8733127;9152839;9950369", "class_list": "", "function": "Identification of missense MAB21L1 variants in microphthalmia and aniridia., [RefSeq, PubMed]; Missense Mutations in MAB21L1: Causation of Novel Autosomal Dominant Ocular BAMD Syndrome. Review article, [RefSeq, PubMed]; Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Putative nucleotidyltransferase required for several aspects of embryonic development including normal development of the eye (PubMed:27103078, PubMed:30487245). It is unclear whether it displays nucleotidyltransferase activity in vivo (PubMed:27271801). Binds single-stranded RNA (ssRNA) (PubMed:27271801)., [UniProtKB, PubMed, PubMed, PubMed]; Single amino acid variation in MAB21L1 is dominantly associated with congenital eye defects., [RefSeq, PubMed]; This gene is similar to the MAB-21 cell fate-determining gene found in C. elegans. It may be involved in eye and cerebellum development, and it has been proposed that expansion of a trinucleotide repeat region in the 5' UTR may play a role in a variety of psychiatric disorders. [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": 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": 21, "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": "Q6I9T5", "ec_number_list": "", "go_molecular_function": "GO:0005524 ATP binding;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0016779 nucleotidyltransferase activity", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0001654 eye development;GO:0009653 anatomical structure morphogenesis", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q13394-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15528-1", "uniprot_id": "MED22_HUMAN", "mass": 22221.0, "length": 200, "protein_name": "Mediator of RNA polymerase II transcription subunit 22", "gene_name": "MED22", "organism": "Human", "refseq_name": "mediator of RNA polymerase II transcription subunit 22 isoform b", "refseq_ac": "NP_598395", "gene_names_uniprotkb": "MED22; SURF5", "gene_names_refseq": "MED22; MED24; SRB6; SURF5; surf-5", "protein_names_uniprotkb": "Mediator of RNA polymerase II transcription subunit 22; Mediator complex subunit 22; Surf-5; Surfeit locus protein 5", "protein_names_refseq": "mediator of RNA polymerase II transcription subunit 22 isoform b; mediator of RNA polymerase II transcription subunit 22; surfeit locus protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:6837); (R-HSA-1989781); (R-HSA-381340); (R-HSA-9833110)", "pathway_count": 4, "publication_count": 84, "publication_id_list": "10075656;10425206;10777541;11095972;11237011;11267664;11607032;11872672;11891058;12118000;12177166;12213831;12505311;12582161;12584197;12829629;14976261;15067378;15130092;15273253;15635043;15850785;15919796;15989967;16380219;16972786;17011499;17980149;18420935;18540824;18719978;18848529;18931025;19043829;19088433;19115207;19172745;19664994;19710929;19934321;20101261;20110263;20410276;22090124;23239344;24196956;25576301;25854864;26992070;27600516;27862975;28228285;28904123;29557506;30379171;30429286;30524438;31154438;31844290;31848261;32897882;32938616;32983136;33208756;33912179;33936100;35580925;36102648;37217939;40596516;7685352;7892212;8325954;8586415;8643605;8647822;8706692;8770873;8970730;9012850;9065481;9454824;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, UniProtKB]; Hu-Surf5 encodes three different transcripts, Surf-5a, Surf-5b, and Surf-5c, which result from alternative splicing., [RefSeq, PubMed]; Inactivation of mediator complex protein 22 in podocytes results in intracellular vacuole formation, podocyte loss and premature death. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein component of the mediator complex, which functions in the regulation of transcription by bridging interactions between gene-specific regulatory factors, RNA polymerase II, and general transcription factors. Alternatively spliced transcript variants encoding different isoforms have been observed. [provided by RefSeq, Jul 2013]., [RefSeq]; This publication also contains human sequence., [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": 1, "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": 3, "binding_glycan_count": 0, "secondary_ac_list": "B3KW83;B3KWX4;O76072;Q5T8U0", "ec_number_list": "", "go_molecular_function": "GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016592 mediator complex", "go_biological_process": "GO:0060261 positive regulation of transcription initiation by RNA polymerase II;GO:0032968 positive regulation of transcription elongation by RNA polymerase II;GO:0051123 RNA polymerase II preinitiation complex assembly;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "Q15528-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q16820-1", "uniprot_id": "MEP1B_HUMAN", "mass": 79571.0, "length": 701, "protein_name": "Meprin A subunit beta", "gene_name": "MEP1B", "organism": "Human", "refseq_name": "meprin A subunit beta isoform 2 precursor", "refseq_ac": "NP_001295100", "gene_names_uniprotkb": "MEP1B", "gene_names_refseq": "MEP1B", "protein_names_uniprotkb": "Meprin A subunit beta; 3.4.24.63; Endopeptidase-2; Meprin B; N-benzoyl-L-tyrosyl-P-amino-benzoic acid hydrolase subunit beta; PABA peptide hydrolase; PPH beta", "protein_names_refseq": "N-benzoyl-L-tyrosyl-P-amino-benzoic acid hydrolase subunit beta; N-benzoyl-L-tyrosyl-p-amino-benzoic acid hydrolase beta subunit; PABA peptide hydrolase; PPH beta; endopeptidase-2; meprin A subunit beta isoform 2 precursor; meprin A, beta; meprin B", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283)", "pathway": " (hsa:4225)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "10215852;11237011;12387727;12888571;12941954;18478055;18786924;19615748;19748582;20806899;21693781;22940918;22988105;23033978;27180357;27862975;29166602;29242379;29557506;31076514;31604820;33392160;34073350;34125978;34171305;36284347;36976399;8262185;9288916", "class_list": "", "function": "As meprin beta cleavage of APP has been shown to result in formation of highly aggregation-prone, truncated Abeta2-40/42 peptides, enhanced APP processing by this enzyme could contribute to Alzheimer's disease pathology., [RefSeq, PubMed]; Membrane metallopeptidase that sheds many membrane-bound proteins. Exhibits a strong preference for acidic amino acids at the P1' position. Known substrates include: FGF19, VGFA, IL1B, IL18, procollagen I and III, E-cadherin, KLK7, gastrin, ADAM10, tenascin-C. The presence of several pro-inflammatory cytokine among substrates implicate MEP1B in inflammation. It is also involved in tissue remodeling due to its capability to degrade extracellular matrix components. Also cleaves the amyloid precursor protein/APP, thereby releasing neurotoxic amyloid beta peptides (PubMed:27180357)., [UniProtKB, PubMed, PubMed]; Meprins are multidomain zinc metalloproteases that are highly expressed in mammalian kidney and intestinal brush border membranes, and in leukocytes and certain cancer cells. They are involved in the hydrolysis of a variety of peptide and protein substrates, and have been implicated in cancer and intestinal inflammation. Mature meprins are oligomers of evolutionarily related, but separately encoded alpha and/or beta subunits. Homooligomers of alpha subunit are secreted, whereas, oligomers containing the beta subunit are plasma membrane-bound. This gene encodes the beta subunit. Targeted disruption of this gene in mice affects embryonic viability, renal gene expression profiles, and distribution of the membrane-associated alpha subunit in kidney and intestine. [provided by RefSeq, Oct 2011]., [RefSeq]; Structure and Dynamics of Meprin beta in Complex with a Hydroxamate-Based Inhibitor. Publication Status: Online-Only, [RefSeq, PubMed]; The authors found that increased meprin beta G32R activity at the cell surface reduces cell proliferation, but increases cell invasion. Publication Status: Online-Only, [RefSeq, PubMed]; The putative pleiotropic functions of meprin beta in gastric cancer., [RefSeq, PubMed]; This secreted cysteine protease potently converts membrane-bound meprin beta into its active form, impairing meprin beta shedding and its function as a mucus-detaching protease, [RefSeq, PubMed]", "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": 7, "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": 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": 8, "reported_phosphosites": 2, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 47, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 8, "disease_count": 1, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "B7ZM35;B9EGL6;Q670J1", "ec_number_list": "", "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0008270 zinc ion binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0017090 meprin A complex;GO:0005576 extracellular region", "go_biological_process": "GO:0006508 proteolysis;GO:0006954 inflammatory response", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q16820-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q2M2H8-1", "uniprot_id": "MGAL_HUMAN", "mass": 277990.0, "length": 2515, "protein_name": "Probable maltase-glucoamylase 2", "gene_name": "MGAM2", "organism": "Human", "refseq_name": "probable maltase-glucoamylase 2", "refseq_ac": "NP_001280555", "gene_names_uniprotkb": "MGAM2", "gene_names_refseq": "MGAM2", "protein_names_uniprotkb": "Probable maltase-glucoamylase 2; Glucan 1,4-alpha-glucosidase; Maltase-glucoamylase (alpha-glucosidase) pseudogene", "protein_names_refseq": "Putative maltase-glucoamylase-like protein FLJ16351; maltase-glucoamylase (alpha-glucosidase) pseudogene; maltase-glucoamylase (alpha-glucosidase); probable maltase-glucoamylase 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:93432)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "25645385;27862975;27869121;29557506;29789417;32983136;33968037;34185709;34357683;35051231;38253038", "class_list": "glycogene;glycosylhydrolase", "function": "", "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": 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": 2558, "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": "A4D2I3;C9JNC2", "ec_number_list": "", "go_molecular_function": "GO:0004558 alpha-1,4-glucosidase activity;GO:0030246 carbohydrate binding;GO:0004339 glucan 1,4-alpha-glucosidase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0045177 apical part of cell;GO:0012505 endomembrane system", "go_biological_process": "GO:0046352 disaccharide catabolic process", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q2M2H8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6UX53-1", "uniprot_id": "TMT1B_HUMAN", "mass": 27775.0, "length": 244, "protein_name": "Thiol S-methyltransferase TMT1B", "gene_name": "TMT1B", "organism": "Human", "refseq_name": "thiol S-methyltransferase TMT1B precursor", "refseq_ac": "NP_689850", "gene_names_uniprotkb": "TMT1B; METTL7B; PRO1180", "gene_names_refseq": "ALDI; METTL7B; TMT1B", "protein_names_uniprotkb": "Thiol S-methyltransferase TMT1B; 2.1.1.9; Methyltransferase-like protein 7B; Thiol S-methyltransferase METTL7B", "protein_names_refseq": "associated with lipid droplets 1; methyltransferase like 7B; methyltransferase-like protein 7B; thiol S-methyltransferase METTL7B; thiol S-methyltransferase TMT1B precursor; thiol S-methyltransferase TMT1B", "tax_id": 9606, "disease": "", "pathway": " (hsa:196410)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "12975309;29557506;30833945;31121562;31154438;31844290;32387766;33484445;33592498;33649426;34171305;35051231;35254598;35397445;35603523;37137720;38151817", "class_list": "", "function": "Human METTL7B is an alkyl thiol methyltransferase that metabolizes hydrogen sulfide and captopril. Publication Status: Online-Only, [RefSeq, PubMed]; Low Molecular Pectin Inhibited the Lipid Accumulation by Upregulation of METTL7B., [RefSeq, PubMed]; METTL7B contributes to the malignant progression of glioblastoma by inhibiting EGR1 expression., [RefSeq, PubMed]; Methyltransferase like 7B is upregulated in sepsis and modulates lipopolysaccharide-induced inflammatory response and macrophage polarization., [RefSeq, PubMed]; Potent necrosis effect of methanethiol mediated by METTL7B enzyme bioactivation mechanism in 16HBE cell., [RefSeq, PubMed]; Results indicate that METTL7B may promote metastasis of thyroid cancer through EMT and may therefore be considered as a potential biomarker for the diagnosis and prognosis of thyroid carcinoma., [RefSeq, PubMed]; The Methyltransferases METTL7A and METTL7B Confer Resistance to Thiol-Based Histone Deacetylase Inhibitors., [RefSeq, PubMed]; Thiol S-methyltransferase that catalyzes the transfer of a methyl group from S-adenosyl-L-methionine to alkyl and phenolic thiol-containing acceptor substrates. Together with TMT1B accounts for most of S-thiol methylation activity in the endoplasmic reticulum of hepatocytes. Selectively methylates S-centered nucleophiles from metabolites such as hydrogen sulfide and dithiothreitol., [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": 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": "A8K247;Q8WUI1", "ec_number_list": "2.1.1.9;2.1.1.348", "go_molecular_function": "GO:0008757 S-adenosylmethionine-dependent methyltransferase activity;GO:0018708 thiol S-methyltransferase activity", "go_cellular_component": "GO:0005811 lipid droplet;GO:0005829 cytosol;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q6UX53-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IWD5-1", "uniprot_id": "MFS6L_HUMAN", "mass": 64005.0, "length": 586, "protein_name": "Major facilitator superfamily domain-containing protein 6-like", "gene_name": "MFSD6L", "organism": "Human", "refseq_name": "major facilitator superfamily domain-containing protein 6-like", "refseq_ac": "NP_689812", "gene_names_uniprotkb": "MFSD6L; FP7072", "gene_names_refseq": "MFSD6L; SLC73A2", "protein_names_uniprotkb": "Major facilitator superfamily domain-containing protein 6-like", "protein_names_refseq": "major facilitator superfamily domain-containing protein 6-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:162387)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "15498874;27397612;29557506;33392160;34105348;35051231;38909778", "class_list": "", "function": "Deficiency of MFSD6L, an acrosome membrane protein, causes oligoasthenoteratozoospermia in humans and mice., [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": 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": "Q6YL34;Q8NA76", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q8IWD5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NHW3-1", "uniprot_id": "MAFA_HUMAN", "mass": 36982.0, "length": 353, "protein_name": "Transcription factor MafA", "gene_name": "MAFA", "organism": "Human", "refseq_name": "transcription factor MafA", "refseq_ac": "NP_963883", "gene_names_uniprotkb": "MAFA", "gene_names_refseq": "INSDM; MAFA; RIPE3b1; hMafA", "protein_names_uniprotkb": "Transcription factor MafA; Pancreatic beta-cell-specific transcriptional activator; RIPE3b1 factor; V-maf musculoaponeurotic fibrosarcoma oncogene homolog A", "protein_names_refseq": "RIPE3b1 activator; RIPE3b1 factor; pancreatic beta-cell-specific transcriptional activator; transcription factor MafA; transcription factor RIPE3b1; v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A", "tax_id": 9606, "disease": "maturity-onset diabetes of the young (Disease Ontology:DOID:0050524); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); islet cell adenomatosis (MONDO:MONDO:0007834)", "pathway": " (hsa:389692); (R-HSA-210745)", "pathway_count": 2, "publication_count": 30, "publication_id_list": "11416124;12011435;12368292;12917329;14973194;15664997;15963504;15993959;18042454;19004825;21646385;21830322;23148532;24442204;26758079;27862975;28121444;28934129;29339498;32157095;32938616;34644565;34804002;35041347;35051231;35580925;36010968;37028761;37217939;39189982", "class_list": "", "function": "Adult Proinsulinomatosis Associated With a MAFA Germline Mutation as a Rare Cause of Recurrent Hypoglycemia., [RefSeq, PubMed]; CREB activates the MafA promoter through proximal E-boxes and a CCAAT motif in pancreatic beta-cells. Publication Status: Online-Only, [RefSeq, PubMed]; MAFA is a transcription factor that binds RIPE3b, a conserved enhancer element that regulates pancreatic beta cell-specific expression of the insulin gene (INS; MIM 176730) (Olbrot et al., 2002 [PubMed 12011435]).[supplied by OMIM, Mar 2008]., [RefSeq]; MafA has a role in regulating insulin gene expression in the liver, [RefSeq, PubMed]; MafA selectively induces endogenous insulin transcription in non-beta cells, [RefSeq, PubMed]; Oxidative Stress Leads to beta-Cell Dysfunction Through Loss of beta-Cell Identity. Publication Status: Online-Only, [RefSeq, PubMed]; Sex-biased islet beta cell dysfunction is caused by the MODY MAFA S64F variant by inducing premature aging and senescence in males., [RefSeq, PubMed]; The ubiquitin ligase HERC4 suppresses MafA transcriptional activity triggered by GSK3beta in myeloma by atypical K63-linked polyubiquitination., [RefSeq, PubMed]; Transcription factor that activates insulin gene expression (PubMed:12011435, PubMed:15993959). Acts synergistically with NEUROD1/BETA2 and PDX1 (PubMed:15993959). Binds the insulin enhancer C1/RIPE3b element (PubMed:12011435). Binds to consensus TRE-type MARE 5'-TGCTGACTCAGCA-3' DNA sequence (PubMed:23148532, PubMed:29339498)., [UniProtKB, 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": 21, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "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": "", "ec_number_list": "", "go_molecular_function": "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:0001228 DNA-binding transcription activator 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:0045944 positive regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription;GO:0009749 response to glucose", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q8NHW3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WZ33-1", "uniprot_id": "MAFIP_HUMAN", "mass": 13947.0, "length": 124, "protein_name": "MaFF-interacting protein", "gene_name": "MAFIP", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "MAFIP; MIP; PP5644", "gene_names_refseq": "", "protein_names_uniprotkb": "MaFF-interacting protein; Tektin-4 like protein PP5644", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 7, "publication_id_list": "11237011;15498874;15881666;16549056;28832583;29242379;31848261", "class_list": "", "function": "Acts as a coactivator of MAFF transcriptional activity. Inhibits cell growth and colony-forming efficiency., [UniProtKB, PubMed, PubMed]; Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia and flagellar axoneme. Forms filamentous polymers in the walls of ciliary and flagellar microtubules. Required for normal sperm mobility., [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": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005929 cilium;GO:0015630 microtubule cytoskeleton;GO:0005930 axoneme", "go_biological_process": "GO:0060294 cilium movement involved in cell motility;GO:0006351 DNA-templated transcription;GO:0030317 flagellated sperm motility;GO:0060271 cilium assembly", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8WZ33-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96ES6-1", "uniprot_id": "S33A2_HUMAN", "mass": 42696.0, "length": 412, "protein_name": "Solute carrier family 33 member 2", "gene_name": "SLC33A2", "organism": "Human", "refseq_name": "solute carrier family 33 member 2", "refseq_ac": "NP_612440", "gene_names_uniprotkb": "SLC33A2; MFSD3", "gene_names_refseq": "MFSD3; SLC33A2", "protein_names_uniprotkb": "Solute carrier family 33 member 2; Major facilitator superfamily domain-containing protein 3", "protein_names_refseq": "major facilitator superfamily domain containing 3; major facilitator superfamily domain-containing protein 3; solute carrier family 33 member 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:113655)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "26992070;29437277;31655468;31844290;32161166;32387766;32502341;32938616;33936100;33968037;34171305;34509645;35051231;35580925;35765761", "class_list": "", "function": "Association of MFSD3 promoter methylation level and weight regain after gastric bypass: Assessment for 3 y after surgery., [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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q96ES6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96MC6-1", "uniprot_id": "S71A1_HUMAN", "mass": 53027.0, "length": 490, "protein_name": "Solute carrier family 71 member 1", "gene_name": "SLC71A1", "organism": "Human", "refseq_name": "solute carrier family 71 member 1", "refseq_ac": "NP_149044", "gene_names_uniprotkb": "SLC71A1; HIAT1; MFSD14A", "gene_names_refseq": "HAIT1; HIAT1; MFSD14A; SLC71A1", "protein_names_uniprotkb": "Solute carrier family 71 member 1; Hippocampus abundant transcript 1 protein; Major facilitator superfamily domain-containing 14A; Putative tetracycline transporter-like protein", "protein_names_refseq": "hippocampus abundant gene transcript 1; hippocampus abundant transcript 1 protein; major facilitator superfamily domain containing 14A; putative tetracycline transporter-like protein; solute carrier family 71 member 1; tetracycline transporter-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:64645)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "23481700;25502872;25576301;25732826;26992070;27846572;28228285;28832583;28904123;29242379;29437277;29557506;29632711;29786170;30315122;30779550;30833945;31154438;31844290;32157095;32161166;32350084;32357974;32488085;32502341;32938616;32983136;33392160;33717175;33912179;33968037;34087483;34171305;34357683;35051231;35154160;35318648;35580925;36010968;36215666;36241641;37938771", "class_list": "", "function": "Probable membrane-bound transporter. May play a role in neuronal nutrient sensing and energy homeostasis. Required for the final stages of spermatogenesis., [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": 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": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q6P2N7;Q8N8K2;Q8NBV3;Q96NY0;Q9NT25", "ec_number_list": "", "go_molecular_function": "GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0000139 Golgi membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q96MC6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H1U4-1", "uniprot_id": "MEGF9_HUMAN", "mass": 62984.0, "length": 602, "protein_name": "Multiple epidermal growth factor-like domains protein 9", "gene_name": "MEGF9", "organism": "Human", "refseq_name": "multiple epidermal growth factor-like domains protein 9 precursor", "refseq_ac": "NP_001073966", "gene_names_uniprotkb": "MEGF9; EGFL5; KIAA0818; PRO1305", "gene_names_refseq": "EGFL5; MEGF9", "protein_names_uniprotkb": "Multiple epidermal growth factor-like domains protein 9; EGF-like protein 5; Epidermal growth factor-like protein 5; Multiple EGF-like domains protein 9", "protein_names_refseq": "EGF-like-domain, multiple 5; epidermal growth factor-like protein 5; multiple epidermal growth factor-like domains protein 9 precursor; multiple epidermal growth factor-like domains protein 9", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); nicotine dependence (Disease Ontology:DOID:0050742); withdrawal disorder (Disease Ontology:DOID:0060001); autism spectrum disorder (Disease Ontology:DOID:0060041); opioid abuse (Disease Ontology:DOID:11206); sciatic neuropathy (Disease Ontology:DOID:11446); 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); drug psychosis (Disease Ontology:DOID:1742); post-traumatic stress disorder (Disease Ontology:DOID:2055); brain ischemia (Disease Ontology:DOID:2316); opiate dependence (Disease Ontology:DOID:2559); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); schizophrenia (Disease Ontology:DOID:5419); rheumatoid arthritis (Disease Ontology:DOID:7148); neonatal abstinence syndrome (Disease Ontology:DOID:9828); obesity (Disease Ontology:DOID:9970); drug dependence (Disease Ontology:DOID:9974); cocaine dependence (Disease Ontology:DOID:9975); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:1955)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "10.1038/emboj.2013.79;12975309;23584533;24098452;24190977;28832583;30459171;31611695;32350084;32387766;34629037;35051231;35251023;40307207;9693030", "class_list": "", "function": "MiR-125b acts as a tumor suppressor in breast tumorigenesis via its novel direct targets ENPEP, CK2-alpha, CCNJ, and MEGF9. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-7/EGFR/MEGF9 axis regulates cartilage degradation in osteoarthritis via PI3K/AKT/mTOR signaling pathway., [RefSeq, PubMed]", "predicted_glycosites": 14, "predicted_n_glycosites": 9, "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": 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": 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": 48, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 22, "glyco_site_count": 22, "binding_glycan_count": 0, "secondary_ac_list": "B7Z315;O75098", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane;GO:0005604 basement membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q9H1U4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NWR8-1", "uniprot_id": "MCUB_HUMAN", "mass": 39082.0, "length": 336, "protein_name": "Calcium uniporter regulatory subunit MCUb, mitochondrial", "gene_name": "MCUB", "organism": "Human", "refseq_name": "calcium uniporter regulatory subunit MCUb, mitochondrial", "refseq_ac": "NP_060388", "gene_names_uniprotkb": "MCUB; CCDC109B", "gene_names_refseq": "CCDC109B; MCUB", "protein_names_uniprotkb": "Calcium uniporter regulatory subunit MCUb, mitochondrial; Coiled-coil domain-containing protein 109B; MCUb", "protein_names_refseq": "calcium uniporter regulatory subunit MCUb, mitochondrial; coiled-coil domain containing 109B; coiled-coil domain-containing protein 109B; mitochondrial calcium uniporter dominant negative beta subunit; mitochondrial calcium uniporter regulatory subunit MCUb", "tax_id": 9606, "disease": "", "pathway": " (hsa:55013); (R-HSA-8949215); (R-HSA-8949664)", "pathway_count": 3, "publication_count": 69, "publication_id_list": "12438411;15904662;17178908;18628306;19773279;19797662;20018762;20332099;20693986;21685886;21685888;21720385;23409044;23481700;23716663;23755363;23900286;24162235;24231807;24344246;24503055;24560927;24898248;25077561;25171321;25418920;25565209;25753332;26375851;26929215;26976564;26992070;27099988;27642048;27669901;27737933;28411811;28754121;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29632046;30410026;30429286;31533452;31844290;31848261;31998317;32265295;32357974;32488085;32502341;32938616;32983136;33298915;33691108;33912179;33968037;34087483;34357683;34405274;35051231;35561310;36010968;7399049", "class_list": "", "function": "MCUB-dependent changes in mitochondrial calcium uniporter stoichiometry are a prominent regulatory mechanism to modulate mitochondrial Ca(2+) uptake and cardiac myocyte cellular physiology., [RefSeq, PubMed]; MCUb (also known as CCDC109b) is a paralogue of MCU (CCDC109a). MCUb physically resides within the mitochondrial uniporter complex (uniplex), which consists of the MCU, MCUb, EMRE, MICU1, and MICU2., [RefSeq, PubMed]; Negative regulator of the mitochondrial calcium uniporter (MCU), a channel that mediates calcium uptake into the mitochondrial matrix (PubMed:31533452). MCUB is required to limit mitochondrial calcium overload during stress (PubMed:31533452). Acts as a dominant-negative regulator that displaces MCU from the functional uniplex complex and thereby decreases the association of calcium sensors MICU1 and MICU2, preventing channel gating (PubMed:31533452). Mitochondrial calcium homeostasis plays key roles in mitochondrial metabolism (PubMed:31533452). Acts as an important regulator of mitochondrial metabolism in response to stress in muscle cells: induced in response to fasting, leading to restrict mitochondrial calcium uptake, resulting in reprogramming of mitochondria toward fatty acid oxidation preference (By similarity). Acts as a regulator of macrophage polarization during skeletal muscle regeneration: inhibition of mitochondrial calcium uptake drives differentiation of macrophages with anti-inflammatory profile, promoting the differentiation and fusion of satellite cells (By similarity)., [UniProtKB, UniProtKB, 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]; This study elucidated a role for CCDC109B as an oncogene and a prognostic marker in human gliomas. 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": 7, "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": "A8K4Y3;Q6IAC1", "ec_number_list": "", "go_molecular_function": "GO:0019855 calcium channel inhibitor activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0016020 membrane;GO:0034704 calcium channel complex;GO:1990246 uniplex complex", "go_biological_process": "GO:0043403 skeletal muscle tissue regeneration;GO:0006851 mitochondrial calcium ion transmembrane transport;GO:0036444 calcium import into the mitochondrion;GO:0051560 mitochondrial calcium ion homeostasis;GO:0043030 regulation of macrophage activation", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q9NWR8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P1T7-2", "uniprot_id": "MDFIC_HUMAN", "mass": 25788.0, "length": 246, "protein_name": "MyoD family inhibitor domain-containing protein", "gene_name": "MDFIC", "organism": "Human", "refseq_name": "myoD family inhibitor domain-containing protein isoform p32", "refseq_ac": "NP_001159817", "gene_names_uniprotkb": "MDFIC", "gene_names_refseq": "HIC; LMPHM12; MDFIC1; MDFIC", "protein_names_uniprotkb": "MyoD family inhibitor domain-containing protein; I-mfa domain-containing protein; hIC", "protein_names_refseq": "I-mfa domain-containing protein; myoD family inhibitor domain-containing protein isoform p32", "tax_id": 9606, "disease": "hereditary lymphedema (Disease Ontology:DOID:0050580); central conducting lymphatic anomaly (Disease Ontology:DOID:0081030)", "pathway": " (hsa:29969)", "pathway_count": 1, "publication_count": 45, "publication_id_list": "10671520;11139147;12192039;12944466;16260749;17289077;18669648;19582149;23186163;23481700;24714562;25502872;25548167;26154972;26728094;26992070;27846572;28223352;28832583;29242379;29393594;29493099;29557506;29632711;29786170;30429286;31844290;31848261;31998317;32157095;32350084;32457453;32502341;32983136;33043033;33592498;33717175;33912179;33968037;34561969;35051231;35154160;35235341;35580925;37590348", "class_list": "", "function": "(Microbial infection) Modulates the expression from viral promoters. Down-regulates Tat-dependent transcription of the human immunodeficiency virus type 1 (HIV-1) LTR by interacting with HIV-1 Tat and Rev and impairing their nuclear import, probably by rendering the NLS domains inaccessible to importin-beta (PubMed:12944466, PubMed:16260749, Ref.6). Also stimulates activation of human T-cell leukemia virus type I (HTLV-I) LTR (PubMed:10671520)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; GR directly represses the MDFIC gene, revealing a negative feedback loop by which glucocorticoids limit MDFIC activity. These findings identify a new binding partner for cytoplasmic GR that modulates the receptor transcriptome and contributes to the tissue-specific actions of glucocorticoids., [RefSeq, PubMed]; MyoD-family inhibitor proteins act as auxiliary subunits of Piezo channels., [RefSeq, PubMed]; Opposite Roles of the JMJD1A Interaction Partners MDFI and MDFIC in Colorectal Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema., [RefSeq, PubMed]; Required to control the activity of various transcription factors through their sequestration in the cytoplasm. Retains nuclear Zic proteins ZIC1, ZIC2 and ZIC3 in the cytoplasm and inhibits their transcriptional activation (By similarity). Modulates the expression from cellular promoters. Binds to the axin complex, resulting in an increase in the level of free beta-catenin (PubMed:12192039). Affects axin regulation of the WNT and JNK signaling pathways (PubMed:12192039). Involved in the development of lymphatic vessel valves (By similarity). Required to promote lymphatic endothelial cell migration, in a process that involves down-regulation of integrin beta 1 activation and control of cell adhesion to the extracellular matrix (PubMed:35235341). Regulates the activity of mechanosensitive Piezo channel (PubMed:37590348)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Strict regulation of HIC expression at the levels of mRNA stability, translation efficiency and protein stability suggests that expression of the HIC protein and its involvement in the various pathways is required only under specific cellular conditions Publication Status: Online-Only, [RefSeq, PubMed]; This gene product is a member of a family of proteins characterized by a specific cysteine-rich C-terminal domain, which is involved in transcriptional regulation of viral genome expression. Alternative translation initiation from an upstream non-AUG (GUG), and an in-frame, downstream AUG codon, results in the production of two isoforms, p40 and p32, respectively, which have different subcellular localization; p32 is mainly found in the cytoplasm, whereas p40 is targeted to the nucleolus. Both isoforms have transcriptional regulatory activity that is attributable to the cysteine-rich C-terminal domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]., [RefSeq]; Two isoforms, resulting from the use of a non-AUG (GUG) and a downstream in-frame AUG translation initiation codon, have different subcellular localization., [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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9P1T6", "ec_number_list": "", "go_molecular_function": "GO:0030957 Tat protein binding;GO:0030332 cyclin binding;GO:0140297 DNA-binding transcription factor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription;GO:0030111 regulation of Wnt signaling pathway;GO:0042308 negative regulation of protein import into nucleus", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q9P1T7-2", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P2E8-1", "uniprot_id": "MARH4_HUMAN", "mass": 45528.0, "length": 410, "protein_name": "E3 ubiquitin-protein ligase MARCHF4", "gene_name": "MARCHF4", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase MARCHF4 precursor", "refseq_ac": "NP_065865", "gene_names_uniprotkb": "MARCHF4; KIAA1399; MARCH4; RNF174", "gene_names_refseq": "MARCH-IV; MARCH4; MARCHF4; RNF174", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase MARCHF4; 2.3.2.27; MARCH-IV; Membrane-associated RING finger protein 4; Membrane-associated RING-CH protein IV; RING finger protein 174; RING-type E3 ubiquitin transferase MARCHF4", "protein_names_refseq": "E3 ubiquitin-protein ligase MARCH4; E3 ubiquitin-protein ligase MARCHF4 precursor; E3 ubiquitin-protein ligase MARCHF4; RING finger protein 174; RING-type E3 ubiquitin transferase MARCH4; RING-type E3 ubiquitin transferase MARCHF4; membrane associated ring finger 4; membrane-associated RING finger protein 4; membrane-associated RING-CH protein IV; membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase", "tax_id": 9606, "disease": "", "pathway": " (hsa:57574)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "14722266;21151997;29557506;35051231;35526384", "class_list": "", "function": "E3 ubiquitin-protein ligase that may mediate ubiquitination of MHC-I and CD4, and promote their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates., [UniProtKB, PubMed]; MARCH4 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH4 reduces surface accumulation of several membrane glycoproteins by directing them to the endosomal compartment (Bartee et al., 2004 [PubMed 14722266]).[supplied by OMIM, Apr 2010]., [RefSeq]; Membrane-Associated RING-CH proteins MARCH VIII and MARCH IV associate with Bap31 and target CD81 and CD44 to lysosomes 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": 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": "Q4KMN7;Q86WR8", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005795 Golgi stack;GO:0005802 trans-Golgi network", "go_biological_process": "GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q9P2E8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UJ55-1", "uniprot_id": "MAGL2_HUMAN", "mass": 132822.0, "length": 1249, "protein_name": "MAGE-like protein 2", "gene_name": "MAGEL2", "organism": "Human", "refseq_name": "MAGE-like protein 2", "refseq_ac": "NP_061939", "gene_names_uniprotkb": "MAGEL2; NDNL1", "gene_names_refseq": "MAGEL2; NDNL1; PWLS; SHFYNG; nM15", "protein_names_uniprotkb": "MAGE-like protein 2; Necdin-like protein 1; Protein nM15", "protein_names_refseq": "MAGE-like protein 2; melanoma antigen family L2; necdin-like protein 1; protein nM15", "tax_id": 9606, "disease": "Schaaf-Yang syndrome (Disease Ontology:DOID:0111715); Prader-Willi syndrome (Disease Ontology:DOID:11983)", "pathway": " (hsa:54551)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "10556298;10915770;20467835;20864041;23452853;24076603;26365382;28228285;29557506;29786170;31848261;32387766;32938616;34019948;35051231;35251023;36243518;36637363;38908375", "class_list": "", "function": "Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2., [RefSeq, PubMed]; MAGEL2 gene is imprinted, with preferential expression from the paternal allele., [RefSeq, PubMed]; Magel2 truncation alters select behavioral and physiological outcomes in a rat model of Schaaf-Yang syndrome., [RefSeq, PubMed]; Prader-Willi syndrome (PWS) is caused by the loss of expression of imprinted genes in chromosome 15q11-q13 region. Affected individuals exhibit neonatal hypotonia, developmental delay, and childhood-onset obesity. Necdin (NDN), a gene involved in the terminal differentiation of neurons, localizes to this region of the genome and has been implicated as one of the genes responsible for the etiology of PWS. This gene is structurally similar to NDN, is also localized to the PWS chromosomal region, and is paternally imprinted, suggesting a possible role for it in PWS. [provided by RefSeq, Oct 2010]., [RefSeq]; Probably enhances ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases, possibly through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. Acts as a regulator of retrograde transport via its interaction with VPS35. Recruited to retromer-containing endosomes and promotes the formation of 'Lys-63'-linked polyubiquitin chains at 'Lys-220' of WASHC1 together with TRIM27, leading to promote endosomal F-actin assembly (PubMed:23452853). Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-BMAL1 heterodimer. Significantly promotes the cytoplasmic accumulation of CLOCK (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; Results suggest that MAGEL2 may not play a role in the pathophysiology of schizophrenia and mood disorders in the Japanese population. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; These findings provide a cellular and molecular function for MAGE-L2-TRIM27 in retrograde transport, including an unappreciated role of K63-linked ubiquitination and identification of an activating signal of the WASH regulatory complex., [RefSeq, PubMed]; Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromes. Erratum:[Am J Hum Genet. 2025 Oct 2;112(10):2562. doi: 10.1016/j.ajhg.2025.09.005. PMID: 40945516], [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "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": "H0YDD5", "ec_number_list": "", "go_molecular_function": "GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005768 endosome;GO:0005769 early endosome;GO:0005829 cytosol", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription;GO:0042752 regulation of circadian rhythm;GO:0048511 rhythmic process", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q9UJ55-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A4FU01-1", "uniprot_id": "MTMRB_HUMAN", "mass": 79545.0, "length": 709, "protein_name": "Myotubularin-related protein 11", "gene_name": "MTMR11", "organism": "Human", "refseq_name": "myotubularin-related protein 11 isoform a", "refseq_ac": "NP_001139334", "gene_names_uniprotkb": "MTMR11", "gene_names_refseq": "CRA; MTMR11", "protein_names_uniprotkb": "Myotubularin-related protein 11; Cisplatin resistance-associated protein; Inactive phosphatidylinositol 3-phosphatase 11; hCRA", "protein_names_refseq": "cisplatin resistance associated; cisplatin resistance-associated protein; hCRA; inactive phosphatidylinositol 3-phosphatase 11; myotubularin-related protein 11 isoform a", "tax_id": 9606, "disease": "neurodegenerative disease (Disease Ontology:DOID:1289)", "pathway": " (hsa:10903)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "17498563;25353672;29557506;29789417;33392160;33968037;35051231;36284347;38253038", "class_list": "", "function": "Genome wide association study shows evidence of association between mammographic density and SNPs in high linkage disequilibrium with rs11205277, rs11205303 in gene MTMR11 and rs67807996 in gene OTUD7B., [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "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": "B3KUE4;B4DJI6;B4DQF5;B4E3Q6;Q3ZCP7;Q5SZ62;Q6P2Q8;Q99752;Q99753", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "A4FU01-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NI15-1", "uniprot_id": "MSGN1_HUMAN", "mass": 20778.0, "length": 193, "protein_name": "Mesogenin-1", "gene_name": "MSGN1", "organism": "Human", "refseq_name": "mesogenin-1", "refseq_ac": "NP_001099039", "gene_names_uniprotkb": "MSGN1", "gene_names_refseq": "MSGN1; MSOG; pMsgn1", "protein_names_uniprotkb": "Mesogenin-1; Paraxial mesoderm-specific mesogenin1; pMesogenin1; pMsgn1", "protein_names_refseq": "mesogenin-1; pMesogenin1; paraxial mesoderm-specific mesogenin1", "tax_id": 9606, "disease": "", "pathway": " (hsa:343930); (R-HSA-9793380); (R-HSA-9824272)", "pathway_count": 3, "publication_count": 3, "publication_id_list": "10837126;28178531;34171305", "class_list": "", "function": "Described the cloning, expression and function of the mouse and frog mesogenin 1., [RefSeq, PubMed]; Involved in specifying the paraxial, but not dorsal, mesoderm. May regulate the expression of T-box transcription factors required for mesoderm formation and differentiation (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": 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:0003682 chromatin binding;GO:0046983 protein dimerization 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:0001228 DNA-binding transcription activator 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:0001707 mesoderm formation", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "A6NI15-1", "record_type": "protein" }, { "uniprot_canonical_ac": "B2RBV5-1", "uniprot_id": "MR1L2_HUMAN", "mass": 13369.0, "length": 119, "protein_name": "MORF4 family associated protein 1 like 2", "gene_name": "MRFAP1L2", "organism": "Human", "refseq_name": "MORF4 family associated protein 1 like 2", "refseq_ac": "NP_619644", "gene_names_uniprotkb": "MRFAP1L2", "gene_names_refseq": "MRFAP1L2; UPP", "protein_names_uniprotkb": "MORF4 family associated protein 1 like 2; MORF4 family-associated protein 1-like protein UPP; UPP; Unnamed protein product", "protein_names_refseq": "MORF4 family associated protein 1 like 2; putative MORF4 family-associated protein 1-like protein UPP", "tax_id": 9606, "disease": "", "pathway": " (hsa:93622)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "24248101;30779550;32265295;32938616;33981976;35051231", "class_list": "", "function": "May play a role in cell proliferation., [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": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0051726 regulation of cell cycle", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "B2RBV5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P09238-1", "uniprot_id": "MMP10_HUMAN", "mass": 54151.0, "length": 476, "protein_name": "Stromelysin-2", "gene_name": "MMP10", "organism": "Human", "refseq_name": "stromelysin-2 preproprotein", "refseq_ac": "NP_002416", "gene_names_uniprotkb": "MMP10; STMY2", "gene_names_refseq": "MMP10; SL-2; STMY2", "protein_names_uniprotkb": "Stromelysin-2; 3.4.24.22; MMP-10; Matrix metalloproteinase-10; SL-2; Transin-2", "protein_names_refseq": "MMP-10; matrix metalloprotease 10; matrix metalloproteinase 10 (stromelysin 2); matrix metalloproteinase-10; stromelysin-2 preproprotein; stromelysin-2; transin 2", "tax_id": 9606, "disease": "adrenoleukodystrophy (Disease Ontology:DOID:10588); end stage renal disease (Disease Ontology:DOID:783); diabetes mellitus (Disease Ontology:DOID:9351)", "pathway": " (hsa:4319); (R-HSA-1442490); (R-HSA-1474228); (R-HSA-1592389)", "pathway_count": 4, "publication_count": 140, "publication_id_list": "10049780;10229672;10386589;10551873;10706100;10809722;10986281;11013208;11119712;11237011;11375993;11577169;11830519;11872628;11927537;12579531;12727852;12750860;12843408;1311314;1371271;1390635;1480033;14973287;15005656;15095982;15234972;15257288;15591058;15950618;15958533;16133547;1649600;16631740;16825197;16825321;16959974;1698775;1704217;1707285;17088321;17332331;17354228;17608959;1783204;18434311;18622425;18658137;19010778;19571574;19657146;19714641;2005102;20142769;21030783;21081667;21297635;21441952;21593211;2159879;21670566;2169257;2169335;2176865;21784848;21864727;21935455;22159414;22241472;22382088;2253219;2269296;23035980;23481700;2383557;23845380;2537292;2546891;2548603;2551898;2557753;27726376;2834383;2844164;2845110;28904123;29331515;3038863;3058116;32157095;3223920;32983136;33981976;35051231;35992547;36231910;36282475;37652204;38806571;4216367;6258630;6263256;6270089;6694361;7075587;7547873;7669817;7746327;7780967;7826345;7890645;7890717;7896811;7981201;8015608;8194591;8226919;8314771;8463259;8530478;8576151;8621565;8626565;8645182;8663255;8804434;8920930;8999957;9065415;9092507;9115292;9148753;9261109;9346290;9422744;9461298;9578462;9632662;9651395;9852107", "class_list": "", "function": "Can degrade fibronectin, gelatins of type I, III, IV, and V; weakly collagens III, IV, and V. Activates procollagenase., [UniProtKB]; Higher Content but Not Activity of Stromelysin-2 (MMP-10) in Comparison to Stromelysin-1 (MMP-3) in Human Renal Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of a functional missense variant in the matrix metallopeptidase 10 (MMP10) gene in two families with premature myocardial infarction. Publication Status: Online-Only, [RefSeq, PubMed]; Matrix metalloproteinase-10 deficiency has protective effects against peritoneal inflammation and fibrosis via transcription factor NFkappaBeta pathway inhibition., [RefSeq, PubMed]; Study on the Mechanism of circRNA-0024103 Reducing Endothelial Cell Injury by Regulating miR-363/MMP-10. Publication Status: Online-Only, [RefSeq, PubMed]; The roles of MMP8/MMP10 polymorphisms in ischemic stroke susceptibility., [RefSeq, PubMed]; This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this 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. The encoded preproprotein is proteolytically processed to generate the mature protease. This secreted protease breaks down fibronectin, laminin, elastin, proteoglycan core protein, gelatins, and several types of collagen. The gene is part of a cluster of MMP genes on chromosome 11. [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": 5, "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": "B2R9X9;Q53HH9", "ec_number_list": "3.4.24.-;3.4.24.7;3.4.21.4;3.4.21.37;3.4.24.24;3.4.24.17;3.4.24.23;3.4.24.22;3.4.24.35;3.4.21.1;3.4.24.34;3.4.24.65", "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0004252 serine-type endopeptidase activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031012 extracellular matrix", "go_biological_process": "GO:0006508 proteolysis;GO:0022617 extracellular matrix disassembly;GO:0030198 extracellular matrix organization;GO:0030574 collagen catabolic process", "synthesized_glycan_count": 0, "hit_score": 14.1, "record_id": "P09238-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P04733-1", "uniprot_id": "MT1F_HUMAN", "mass": 6086.0, "length": 61, "protein_name": "Metallothionein-1F", "gene_name": "MT1F", "organism": "Human", "refseq_name": "metallothionein-1F isoform 2", "refseq_ac": "NP_001288201", "gene_names_uniprotkb": "MT1F; PRO0376", "gene_names_refseq": "MT1F; MT1", "protein_names_uniprotkb": "Metallothionein-1F; MT-1F; MT-IF; Metallothionein-IF", "protein_names_refseq": "MT-1F; MT-IF; metallothionein 1F (functional); metallothionein-1F isoform 2; metallothionein-IF", "tax_id": 9606, "disease": "retinitis pigmentosa (Disease Ontology:DOID:10584); Alzheimer's disease (Disease Ontology:DOID:10652); kidney failure (Disease Ontology:DOID:1074); transient cerebral ischemia (Disease Ontology:DOID:224); median neuropathy (Disease Ontology:DOID:571)", "pathway": " (hsa:4494); (R-HSA-5661231)", "pathway_count": 2, "publication_count": 38, "publication_id_list": "10542048;10716985;10830841;11237011;11994011;12072966;12911326;12963354;15033980;15698955;15736926;16984198;17224279;17388808;17389590;18157556;18429853;18454142;18533113;19425569;20463663;20711450;21320589;22242602;22283439;22823575;22982309;23064051;23086305;23332881;23506369;23523794;23536959;24440467;2444457;24973778;2581970;3023827", "class_list": "", "function": "Aortic protection in diabetes by zinc supplementation is associated with upregulation of both metallothionein and Nrf2 expression. Publication Status: Online-Only, [RefSeq, PubMed]; Findings show 5 MT isoforms were overexpressed in non-small cell lung cancer and overexpression of MT-1F and MT-2A predicted poor outcome; both isoforms may be involved in progression of this cancer type; upregulated MT-1F expression associated with larger primary tumor size and higher grade of malignanacy, [RefSeq, PubMed]; Metallothionein may have a role in the control of apoptosis in pleomorphic adenoma., [RefSeq, PubMed]; Metallothioneins have a high content of cysteine residues that bind various heavy metals., [UniProtKB, UniProtKB]; Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids., [UniProtKB]; We found that metallothionein expression induced by Cd occurred much later, with the expression seen at least 12h or more after the Nrf2-dependent immediate responses were almost completed., [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": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9UI97", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0071276 cellular response to cadmium ion;GO:0071280 cellular response to copper ion;GO:0010273 detoxification of copper ion;GO:0006882 intracellular zinc ion homeostasis;GO:0071294 cellular response to zinc ion", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "P04733-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P51511-1", "uniprot_id": "MMP15_HUMAN", "mass": 75807.0, "length": 669, "protein_name": "Matrix metalloproteinase-15", "gene_name": "MMP15", "organism": "Human", "refseq_name": "matrix metalloproteinase-15 preproprotein", "refseq_ac": "NP_002419", "gene_names_uniprotkb": "MMP15", "gene_names_refseq": "MMP-15; MMP15; MT2-MMP; MT2MMP; MTMMP2; SMCP-2", "protein_names_uniprotkb": "Matrix metalloproteinase-15; 3.4.24.-; MMP-15; MT-MMP 2; MT2-MMP; MT2MMP; MTMMP2; Membrane-type matrix metalloproteinase 2; Membrane-type-2 matrix metalloproteinase; SMCP-2", "protein_names_refseq": "MT-MMP 2; matrix metallopeptidase 15 (membrane-inserted); matrix metalloproteinase 15 (membrane-inserted); matrix metalloproteinase-15 preproprotein; matrix metalloproteinase-15; membrane-type matrix metalloproteinase 2; membrane-type-2 matrix metalloproteinase", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); transitional cell carcinoma (Disease Ontology:DOID:2671)", "pathway": " (hsa:4324); (R-HSA-1442490); (R-HSA-1474228); (R-HSA-1592389)", "pathway_count": 4, "publication_count": 147, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10049780;10229672;10386589;10551873;10706100;10809722;10986281;11013208;11119712;11237011;11375993;11577169;11830519;11872628;11927537;12579531;12727852;12843408;1311314;1371271;1390635;1480033;14973287;15005656;15234972;15257288;15591058;15950618;15958533;16133547;1649600;16631740;16825197;16825321;16959974;1698775;1704217;1707285;17088321;17332331;17354228;17608959;1783204;18434311;18622425;18658137;18691976;19010778;19571574;19657146;19714641;2005102;20058876;20142769;21030783;21297635;21441952;21593211;2159879;21670566;2169257;2169335;2176865;21784848;21864727;21935455;22159414;22241472;22382088;2253219;2269296;23035980;23584533;2383557;23845380;24275569;2537292;2546891;2548603;25502872;2551898;2557753;2834383;2845110;29242379;29314611;29557506;3038863;3058116;30779550;3223920;32350084;33392160;33592498;34988996;35041985;35051231;35062057;35251023;36240223;37938771;39125675;4216367;6258630;6263256;6270089;6694361;7075587;7547873;7649159;7669817;7746327;7780967;7826345;7890645;7890717;7896811;7981201;8015608;8194591;8226919;8314771;8463259;8530478;8576151;8621565;8626565;8645182;8663255;8804434;8920930;8999957;9065415;9092507;9115292;9119382;9148753;9261109;9346290;9422744;9461298;9578462;9632662;9651395;9852107", "class_list": "", "function": "Bi-allelic null variant in matrix metalloproteinase-15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive., [RefSeq, PubMed]; Changes in the expression of membrane type-matrix metalloproteinases genes (MMP14, MMP15, MMP16, MMP24) during treatment and their potential impact on the survival of patients with non-small cell lung cancer (NSCLC)., [RefSeq, PubMed]; Endopeptidase that degrades various components of the extracellular matrix. May activate progelatinase A., [UniProtKB, PubMed]; MMP-14 Exhibits Greater Expression, Content and Activity Compared to MMP-15 in Human Renal Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; MT2-MMP is differentially expressed in multiple myeloma cells and mediates their growth and progression., [RefSeq, PubMed]; This gene encodes a member of the peptidase M10 family and membrane-type subfamily of matrix metalloproteinases (MMPs). Proteins in this 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. Members of this subfamily contain a transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. The encoded preproprotein is proteolytically processed to generate the mature protease. This protein may play a role in cancer progression. [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": 1, "reported_o_glycosites": 1, "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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 2, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A0A2U6;Q14111", "ec_number_list": "3.4.21.75;3.4.24.80;3.4.24.-", "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0008047 enzyme activator activity;GO:0008270 zinc ion binding;GO:0070006 metalloaminopeptidase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0031012 extracellular matrix", "go_biological_process": "GO:0036211 protein modification process;GO:0006508 proteolysis;GO:0022617 extracellular matrix disassembly;GO:0030198 extracellular matrix organization;GO:0032355 response to estradiol", "synthesized_glycan_count": 0, "hit_score": 15.9, "record_id": "P51511-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75648-1", "uniprot_id": "MTU1_HUMAN", "mass": 47745.0, "length": 421, "protein_name": "Mitochondrial tRNA-specific 2-thiouridylase 1", "gene_name": "TRMU", "organism": "Human", "refseq_name": "mitochondrial tRNA-specific 2-thiouridylase 1 isoform e", "refseq_ac": "NP_001269712", "gene_names_uniprotkb": "TRMU; MTU1; TRMT1", "gene_names_refseq": "LCAL3; MTO2; MTU1; TRMT; TRMU", "protein_names_uniprotkb": "Mitochondrial tRNA-specific 2-thiouridylase 1; 2.8.1.14; MTO2 homolog", "protein_names_refseq": "MTO2 homolog; lung cancer associated lncRNA 3; mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase; mitochondrial tRNA-specific 2-thiouridylase 1 isoform e; mitochondrial tRNA-specific 2-thiouridylase 1; tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase", "tax_id": 9606, "disease": "infantile liver failure syndrome (Disease Ontology:DOID:0080716); transient infantile liver failure (Disease Ontology:DOID:0080778); aminoglycoside-induced deafness (Disease Ontology:DOID:0111734); inner ear disease (Disease Ontology:DOID:2952); MERRF syndrome (Disease Ontology:DOID:310); liver disease (Disease Ontology:DOID:409)", "pathway": " (hsa:55687); (R-HSA-6787450)", "pathway_count": 2, "publication_count": 56, "publication_id_list": "11237011;12456664;14746906;15509579;15944150;16513084;16826519;18477386;19732863;21890497;22608499;23042678;23097428;23625533;23814040;23929671;24126054;24901367;25418920;25552653;25645385;25892735;25925575;27846572;28049726;28228285;28832583;28904123;29242379;29390138;29393594;29632046;29760464;29769354;30484775;31844290;32047918;32157095;32387766;32938616;33298915;33691108;33912179;33968037;34171305;34357683;34509645;34561969;35467742;36010968;36215666;36284347;36305855;36581221;38113276;9512533", "class_list": "", "function": "Catalyzes the 2-thiolation of uridine at the wobble position (U34) of mitochondrial tRNA(Lys), tRNA(Glu) and tRNA(Gln). Required for the formation of 5-taurinomethyl-2-thiouridine (tm5s2U) of mitochondrial tRNA(Lys), tRNA(Glu), and tRNA(Gln) at the wobble position. ATP is required to activate the C2 atom of the wobble base., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Genetic correction of TRMU allele restored the mitochondrial dysfunction-induced deficiencies in iPSCs-derived hair cells of hearing-impaired patients., [RefSeq, PubMed]; Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants. Erratum:[Genet Med. 2023 Jun;25(6):100828. doi: 10.1016/j.gim.2023.100828. PMID: 37272928], [RefSeq, PubMed]; Identification and characterization of a mouse gene encoding one component of the enzyme complex responsible for the nucleotide modification at wobble position of mitochondrial tRNA anticodons., [RefSeq, PubMed]; Identification and characterization of a tRNA-modifying enzyme MTU1 (mitochondrial tRNA-specific 2-thiouridylase 1) that is responsible for the 2-thiolation of the wobble position in human and yeast mt tRNAs, [RefSeq, PubMed]; MTO2 may act as a modifier gene, modulating the phenotypic expression of the deafness-associated A1491G or C1409T mutation in mitochondrial 12 S rRNA, [RefSeq, PubMed]; Pathological mutations promote proteolysis of mitochondrial tRNA-specific 2-thiouridylase 1 (MTU1) via mitochondrial caseinolytic peptidase (CLPP)., [RefSeq, PubMed]; The mutated TRMU, related to transfer RNA modification, acting as a modifier factor modulates the phenotypic manifestation of deafness-associated 12S rRNA mutations., [RefSeq, PubMed]; These observations suggest that human TRMU may modulate the phenotypic manifestation of the deafness-associated mitochondrial 12S rRNA mutations., [RefSeq, PubMed]; This nuclear gene encodes a mitochondrial tRNA-modifying enzyme. The encoded protein catalyzes the 2-thiolation of uridine on the wobble positions of tRNA(Lys), tRNA(Glu), and tRNA(Gln), resulting in the formation of 5-taurinomethyl-2-thiouridine moieties. Mutations in this gene may cause transient infantile liver failure. Polymorphisms in this gene may also influence the severity of deafness caused by mitochondrial 12S ribosomal RNA mutations. Alternative 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": 1, "reported_glycation": 0, "reported_snv": 2, "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": "A8K3U7;Q05C99;Q5W9C8;Q66K31;Q6ICC3;Q9NWC1", "ec_number_list": "2.8.1.14", "go_molecular_function": "GO:0005524 ATP binding;GO:0000049 tRNA binding;GO:0061708 tRNA-5-taurinomethyluridine 2-sulfurtransferase", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "GO:0002143 tRNA wobble position uridine thiolation;GO:0008033 tRNA processing", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "O75648-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P04731-1", "uniprot_id": "MT1A_HUMAN", "mass": 6120.0, "length": 61, "protein_name": "Metallothionein-1A", "gene_name": "MT1A", "organism": "Human", "refseq_name": "metallothionein-1A", "refseq_ac": "NP_005937", "gene_names_uniprotkb": "MT1A; MT1S", "gene_names_refseq": "MT-1A; MT-IA; MT1A; MT1S; MT1; MTC", "protein_names_uniprotkb": "Metallothionein-1A; MT-1A; MT-IA; Metallothionein-IA", "protein_names_refseq": "metallothionein 1A (functional); metallothionein 1S; metallothionein-1A; metallothionein-IA", "tax_id": 9606, "disease": "retinitis pigmentosa (Disease Ontology:DOID:10584); Alzheimer's disease (Disease Ontology:DOID:10652); kidney failure (Disease Ontology:DOID:1074); transient cerebral ischemia (Disease Ontology:DOID:224); median neuropathy (Disease Ontology:DOID:571)", "pathway": " (hsa:4489); (R-HSA-5661231)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "10542048;10716985;10830841;11994011;12072966;12911326;12963354;15033980;15698955;15736926;16984198;17224279;17373731;17388808;17389590;18157556;18429853;18454142;18533113;19425569;20463663;20711450;21320589;22242602;22283439;22823575;22982309;23086305;23506369;23523794;24973778;33225329;36981043;38490456;6327055;8290567", "class_list": "", "function": "An Assessment of MT1A (rs11076161), MT2A (rs28366003) and MT1L (rs10636) Gene Polymorphisms and MT2 Concentration in Women with Endometrial Pathologies. Publication Status: Online-Only, [RefSeq, PubMed]; Disruption of metallothionein I and II genes in mouse produced viable mice with increased susceptibility to cadmium poisoning., [RefSeq, PubMed]; Human apo-metallothionein 1a is not a random coil: Evidence from guanidinium chloride, high temperature, and acidic pH unfolding studies., [RefSeq, PubMed]; Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids., [UniProtKB]; One biomarker which has recently shown to be expressed in various human tumors but still less reported in carcinoma is metallothionein. Review article, [RefSeq, PubMed]; The pathways and domain specificity of Cu(I) binding to human metallothionein 1A., [RefSeq, PubMed]; This gene is a member of the metallothionein family of genes. Proteins encoded by this gene family are low in molecular weight, are cysteine-rich, lack aromatic residues, and bind divalent heavy metal ions. The conserved cysteine residues co-ordinate metal ions using mercaptide linkages. These proteins act as anti-oxidants, protect against hydroxyl free radicals, are important in homeostatic control of metal in the cell, and play a role in detoxification of heavy metals. Disruption of two metallothionein genes in mouse resulted in defects in protection against heavy metals, oxidative stress, immune reactions, carcinogens, and displayed obesity. [provided by RefSeq, Sep 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": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q86YX5", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0071276 cellular response to cadmium ion;GO:0071280 cellular response to copper ion;GO:0010273 detoxification of copper ion;GO:0006882 intracellular zinc ion homeostasis;GO:0071294 cellular response to zinc ion", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "P04731-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0C860-1", "uniprot_id": "MS3L2_HUMAN", "mass": 40644.0, "length": 356, "protein_name": "MSL complex subunit 3B", "gene_name": "MSL3B", "organism": "Human", "refseq_name": "MSL complex subunit 3B", "refseq_ac": "NP_001412262", "gene_names_uniprotkb": "MSL3B; MSL3L2; MSL3P1", "gene_names_refseq": "MSL3B; MSL3L2; MSL3P1", "protein_names_uniprotkb": "MSL complex subunit 3B; MSL3-like 2; Male-specific lethal-3 homolog 2; Male-specific lethal-3 homolog pseudogene 1; Male-specific lethal-3 protein-like 2", "protein_names_refseq": "MSL complex subunit 3 pseudogene 1; MSL complex subunit 3B; MSL3-like 2; male-specific lethal 3 homolog pseudogene 1; male-specific lethal 3-like 2; male-specific lethal-3 homolog 2; putative male-specific lethal-3 protein-like 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:151507)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "Probable non-catalytic component of the MSL histone acetyltransferase complex, a multiprotein complex that mediates the majority of histone H4 acetylation at 'Lys-16' (H4K16ac), an epigenetic mark that prevents chromatin compaction., [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": "B4DWW7", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0035267 NuA4 histone acetyltransferase complex;GO:0072487 MSL complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription;GO:0006325 chromatin organization", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "P0C860-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DMT0-1", "uniprot_id": "MLN_HUMAN", "mass": 5194.0, "length": 46, "protein_name": "Myoregulin", "gene_name": "MRLN", "organism": "Human", "refseq_name": "myoregulin", "refseq_ac": "NP_001291660", "gene_names_uniprotkb": "MRLN; MLN", "gene_names_refseq": "LINC00948; Linc-RAM; M1; MLN; MRLN; MUSER1", "protein_names_uniprotkb": "Myoregulin", "protein_names_refseq": "Linc-RNA activator of myogenesis; long intergenic non-protein coding RNA 948; muscle enriched RNA 1; muscle specific 1; myoregulin", "tax_id": 9606, "disease": "", "pathway": " (hsa:100507027)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "25640239;30429286;31154438;31378921;31848261;35580925;37014032", "class_list": "", "function": "Downregulation of Linc-RAM lncRNA may participate in FGF-2 mediated- proliferation of human PDLSCs, [RefSeq, PubMed]; Functional Role of an Unusual Transmembrane Acidic Residue in the Calcium Pump Regulator Myoregulin., [RefSeq, PubMed]; Inhibits the activity of ATP2A1/SERCA1 ATPase in sarcoplasmic reticulum by decreasing the apparent affinity of the ATPase for Ca(2+), thereby acting as a key regulator of skeletal muscle activity. Its high expression in adult skeletal muscle, suggests that it constitutes the predominant regulator of ATP2A1/SERCA1 in adult skeletal muscle. Also inhibits the activity of ATP2A2/SERCA2 and ATP2A3/SERCA3., [UniProtKB, PubMed, UniProtKB]; The human and mouse MLN genes consist of three exons that span 16.5 and 15.0 kb, respectively, with the ORF located in exon 3; findings identify MLN as an important regulator of skeletal muscle physiology., [RefSeq, PubMed]; This gene encodes a small peptide that shares structural similarity to the small peptides sarcolipin and phospholamban, which are key regulators of sarcoplasmic reticulum Ca(2+)-ATPases (SERCAs). This protein is thought to have a similar function to these peptides, regulating Ca(2+) reuptake in the sarcoplasmic reticulum by inhibiting the Ca(2+) pump activity of SERCAs. Alternative splicing results in multiple transcript variants. [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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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:0004857 enzyme inhibitor activity", "go_cellular_component": "GO:0033017 sarcoplasmic reticulum membrane", "go_biological_process": "GO:1902081 negative regulation of calcium ion import into sarcoplasmic reticulum", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "P0DMT0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P28360-1", "uniprot_id": "MSX1_HUMAN", "mass": 31496.0, "length": 303, "protein_name": "Homeobox protein MSX-1", "gene_name": "MSX1", "organism": "Human", "refseq_name": "homeobox protein MSX-1", "refseq_ac": "NP_002439", "gene_names_uniprotkb": "MSX1; HOX7", "gene_names_refseq": "ECTD3; HOX7; HYD1; MSX1; STHAG1", "protein_names_uniprotkb": "Homeobox protein MSX-1; Homeobox protein Hox-7; Msh homeobox 1-like protein", "protein_names_refseq": "homeobox 7; homeobox protein Hox-7; homeobox protein MSX-1; msh homeo box 1; msh homeobox 1-like protein; msh homeobox homolog 1", "tax_id": 9606, "disease": "orofacial cleft (Disease Ontology:DOID:0050567); tooth agenesis (Disease Ontology:DOID:0050591); orofacial cleft 5 (Disease Ontology:DOID:0080399); cryptorchidism (Disease Ontology:DOID:11383); anodontia (Disease Ontology:DOID:13714); tooth and nail syndrome (Disease Ontology:DOID:6678); cleft palate (Disease Ontology:DOID:674); cleft lip (Disease Ontology:DOID:9296)", "pathway": " (hsa:4487); (R-HSA-9834899)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "11369996;12097313;12807959;1284527;16600910;1685479;1969845;23481700;24715725;25576301;25880248;26154972;27846572;27920218;28218747;28832583;28904123;29242379;29393594;29437277;29508533;30429286;30524438;31844290;32357974;32502341;33141586;33298915;33717175;33981976;34357683;34932366;35051231;35318648;36010968;36478500;37101223;38069551;38226815;38713117;8696335;8895516", "class_list": "", "function": "Acts as a transcriptional repressor (By similarity). Capable of transcription autoinactivation (By similarity). Binds to the consensus sequence 5'-C/GTAAT-3' in downstream activin regulatory elements (DARE) in the gene promoter, thereby repressing the transcription of CGA/alpha-GSU and GNRHR (By similarity). Represses transcription of myoblast differentiation factors (By similarity). Binds to core enhancer regions in target gene promoters of myoblast differentiation factors with binding specificity facilitated by interaction with PIAS1 (By similarity). Regulates, in a stage-specific manner, a developmental program of gene expression in the fetal tooth bud that controls odontoblast differentiation and proliferation of dental mesenchymal cells (By similarity). At the bud stage, required for mesenchymal molar tooth bud development via facilitating reciprocal signaling between dental epithelial and mesenchymal cells (By similarity). May also regulate expression of Wnt antagonists such as DKK2 and SFPR2 in the developing tooth mesenchyme (By similarity). Required for BMP4 expression in dental mesenchyme cells (By similarity). Also, in response to BMP4, required for BMP4 expression in neighboring dental epithelial cells (By similarity). Required for maximal FGF4-induced expression of SDC1 in dental mesenchyme cells (By similarity). Also in response to SDC1, required for SDC1 expression in neighboring dental epithelial cells (By similarity). At the early bell stage, acts to drive proliferation of dental mesenchyme cells, however during the late bell stage acts as an homeostatic regulator of the cell cycle (By similarity). Regulates proliferation and inhibits premature mesenchymal odontogenesis during the bell stage via inhibition of the Wnt signaling component CTNNB1 and subsequent repression of the odontoblast differentiation factors BMP2, BMP4, LEF1, ALPL and BGLAP/OCN (By similarity). Additionally, required for correct development and fusion of the palatal shelves and embryonic mandibular formation (By similarity). Plays a role in embryonic bone formation of the middle ear, skull and nasal bones (By similarity). Required for correct formation and thickness of the nail plate (By similarity). May play a role in limb-pattern formation (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; Characterization of novel MSX1 variants causally associated with non-syndromic oligodontia in Chinese families., [RefSeq, PubMed]; Intrahepatic homeobox protein MSX-1 is a novel host restriction factor of hepatitis B virus., [RefSeq, PubMed]; MSX1 involved selective tooth agenesis and abnormal labial frenum, pedigree, and retrospective study., [RefSeq, PubMed]; MSX1-expression during the different phases in healthy human endometrium., [RefSeq, PubMed]; Orodental malformations associated with human MSX1 sequence variants., [RefSeq, PubMed]; This gene encodes a member of the muscle segment homeobox gene family. The encoded protein functions as a transcriptional repressor during embryogenesis through interactions with components of the core transcription complex and other homeoproteins. It may also have roles in limb-pattern formation, craniofacial development, particularly odontogenesis, and tumor growth inhibition. Mutations in this gene, which was once known as homeobox 7, have been associated with nonsyndromic cleft lip with or without cleft palate 5, Witkop syndrome, Wolf-Hirschom syndrome, and autosomoal dominant hypodontia. [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": 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": "A0SZU5;A8K3M1;Q96NY4", "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:0000976 transcription cis-regulatory region binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0000987 cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005667 transcription regulator complex;GO:0000785 chromatin;GO:0034399 nuclear periphery", "go_biological_process": "GO:0043584 nose development;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0010629 negative regulation of gene expression;GO:0000902 cell morphogenesis", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "P28360-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P47944-1", "uniprot_id": "MT4_HUMAN", "mass": 6509.0, "length": 62, "protein_name": "Metallothionein-4", "gene_name": "MT4", "organism": "Human", "refseq_name": "metallothionein-4", "refseq_ac": "NP_116324", "gene_names_uniprotkb": "MT4", "gene_names_refseq": "MT-4; MT-IV; MT4; MTIV", "protein_names_uniprotkb": "Metallothionein-4; MT-4; MT-IV; Metallothionein-IV", "protein_names_refseq": "metallothionein-4; metallothionein-IV", "tax_id": 9606, "disease": "", "pathway": " (hsa:84560); (R-HSA-5661231)", "pathway_count": 2, "publication_count": 33, "publication_id_list": "10542048;10716985;10830841;11994011;12072966;12911326;12963354;15033980;15698955;15736926;16984198;17224279;17388808;17389590;18157556;18429853;18454142;18533113;19425569;19921116;20463663;20711450;21320589;22242602;22283439;22823575;22982309;23086305;23506369;23523794;24973778;28005267;8003488", "class_list": "", "function": "MT4 expression is significantly downregulated in human masticatory mucosa during wound healing, [RefSeq, PubMed]; Seems to bind zinc and copper. Could play a special role in regulating zinc metabolism during the differentiation of stratified epithelia., [UniProtKB]; The association of metallothionein-4 gene polymorphism and renal function in long-term lead-exposed workers GeneRIF: Observational study of gene-disease association and gene-environment interaction. (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": 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": "Q14DA1", "ec_number_list": "", "go_molecular_function": "GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0071276 cellular response to cadmium ion;GO:0071280 cellular response to copper ion;GO:0010273 detoxification of copper ion;GO:0006882 intracellular zinc ion homeostasis;GO:0071294 cellular response to zinc ion", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "P47944-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P48039-1", "uniprot_id": "MTR1A_HUMAN", "mass": 39375.0, "length": 350, "protein_name": "Melatonin receptor type 1A", "gene_name": "MTNR1A", "organism": "Human", "refseq_name": "melatonin receptor type 1A", "refseq_ac": "NP_005949", "gene_names_uniprotkb": "MTNR1A", "gene_names_refseq": "MEL-1A-R; MT1; MTNR1A", "protein_names_uniprotkb": "Melatonin receptor type 1A; Mel-1A-R; Mel1a receptor", "protein_names_refseq": "mel1a receptor; melatonin receptor type 1A", "tax_id": 9606, "disease": "idiopathic juvenile osteoporosis (Disease Ontology:DOID:12559); Huntington's disease (Disease Ontology:DOID:12858); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:4543); (R-HSA-373076); (R-HSA-418594)", "pathway_count": 3, "publication_count": 48, "publication_id_list": "10471411;11007482;12120503;12522134;12524422;12955148;14617636;15141213;15280385;15326175;15929991;15951850;16540462;1656963;16634148;16754668;16844083;16923326;17139494;17339491;17462861;17876302;18434541;18577758;18588883;21796212;2263478;24715725;2534964;2748346;2834384;31019306;31092671;32157095;33592498;35580925;37138267;37259752;38549765;39413162;7498464;7568007;7689702;7775459;7937899;7946354;8015379;8406495", "class_list": "", "function": "Association of rotating night shift work, CLOCK, MTNR1A, MTNR1B genes polymorphisms and their interactions with type 2 diabetes among steelworkers: a case-control study. Publication Status: Online-Only, [RefSeq, PubMed]; High affinity receptor for melatonin. Likely to mediate the reproductive and circadian actions of melatonin. The activity of this receptor is mediated by pertussis toxin sensitive G proteins that inhibit adenylate cyclase activity. Possibly involved in sleep induction, by melatonin activation of the potassium channel KCNMA1/BK and the dissociation of G-beta and G-gamma subunits, thereby decreasing synaptic transmission (By similarity)., [UniProtKB, UniProtKB]; Melatonin receptor 1A (MTNR1A) gene linkage and association to type 2 diabetes in Italian families., [RefSeq, PubMed]; Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis., [RefSeq, PubMed]; Rs4862705 in the melatonin receptor 1A gene is associated with renal function decline in type 1 diabetes individuals. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes one of two high affinity forms of a receptor for melatonin, the primary hormone secreted by the pineal gland. This receptor is a G-protein coupled, 7-transmembrane receptor that is responsible for melatonin effects on mammalian circadian rhythm and reproductive alterations affected by day length. The receptor is an integral membrane protein that is readily detectable and localized to two specific regions of the brain. The hypothalamic suprachiasmatic nucleus appears to be involved in circadian rhythm while the hypophysial pars tuberalis may be responsible for the reproductive effects of melatonin. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 21, "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": "A0AVC5;B0M0L2", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0042562 hormone binding;GO:0008502 melatonin receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043235 receptor complex", "go_biological_process": "GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0007617 mating behavior;GO:0007187 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;GO:0007623 circadian rhythm", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "P48039-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P80297-1", "uniprot_id": "MT1X_HUMAN", "mass": 6068.0, "length": 61, "protein_name": "Metallothionein-1X", "gene_name": "MT1X", "organism": "Human", "refseq_name": "metallothionein-1X", "refseq_ac": "NP_005943", "gene_names_uniprotkb": "MT1X", "gene_names_refseq": "MT-1l; MT1X; MT1", "protein_names_uniprotkb": "Metallothionein-1X; MT-1X; MT-IX; Metallothionein-IX", "protein_names_refseq": "MT-1X; MT-IX; metallothionein-1X; metallothionein-IX; testicular tissue protein Li 124", "tax_id": 9606, "disease": "retinitis pigmentosa (Disease Ontology:DOID:10584); Alzheimer's disease (Disease Ontology:DOID:10652); kidney failure (Disease Ontology:DOID:1074); transient cerebral ischemia (Disease Ontology:DOID:224); median neuropathy (Disease Ontology:DOID:571)", "pathway": " (hsa:4501); (R-HSA-5661231)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "10542048;10716985;10830841;11237011;11994011;12072966;12911326;12963354;15033980;15698955;15736926;16984198;17224279;17388808;17389590;18157556;18429853;18454142;18491316;18533113;19413330;19425569;20068231;20463663;20711450;21320589;22242602;22283439;22823575;22982309;23086305;23251525;23506369;23523794;24973778;27797228;29873415;30932010;34019948;36149322;8049263;8119276", "class_list": "", "function": "MT1X is an oncogene and indicates prognosis in ccRCC., [RefSeq, PubMed]; MT1XT20 Single Quasi-Monomorphic Mononucleotide Marker showing Microsatellite Instability is associated with Persian Lynch Syndrome, [RefSeq, PubMed]; Metallothionein Genes are Highly Expressed in Malignant Astrocytomas and Associated with Patient Survival. Publication Status: Online-Only, [RefSeq, PubMed]; Metallothioneins have a high content of cysteine residues that bind various heavy metals., [UniProtKB, UniProtKB]; Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids. May be involved in FAM168A anti-apoptotic signaling (PubMed:23251525)., [UniProtKB, PubMed]; We featured the expression patterns of MT1s in tissue obtained from various points along the spectrum of hepatocarcinogenesis. Most MT1 members were down-regulated, and MT1X were associated with HCC prognosis. Additionally, MT1X was shown to play a suppressive role in HCC metastasis., [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": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8MUC7", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0071276 cellular response to cadmium ion;GO:0071280 cellular response to copper ion;GO:0010273 detoxification of copper ion;GO:0006882 intracellular zinc ion homeostasis;GO:0071294 cellular response to zinc ion", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "P80297-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P98088-1", "uniprot_id": "MUC5A_HUMAN", "mass": 585570.0, "length": 5654, "protein_name": "Mucin-5AC", "gene_name": "MUC5AC", "organism": "Human", "refseq_name": "mucin-5AC precursor", "refseq_ac": "NP_001291288", "gene_names_uniprotkb": "MUC5AC; MUC5", "gene_names_refseq": "MUC5AC; MUC5; TBM; leB; mucin", "protein_names_uniprotkb": "Mucin-5AC; Gastric mucin; MUC-5AC; Major airway glycoprotein; Mucin-5 subtype AC, tracheobronchial; TBM; Tracheobronchial mucin", "protein_names_refseq": "gastric mucin; lewis B blood group antigen; major airway glycoprotein; mucin 5, subtypes A and C, tracheobronchial/gastric; mucin 5AC, oligomeric mucus/gel-forming pseudogene; mucin-5 subtype AC, tracheobronchial; mucin-5AC precursor; tracheobronchial mucin", "tax_id": 9606, "disease": "biliary tract benign neoplasm (Disease Ontology:DOID:0050625); dry eye syndrome (Disease Ontology:DOID:10140); otitis media (Disease Ontology:DOID:10754); gastric ulcer (Disease Ontology:DOID:10808); Sjogren's syndrome (Disease Ontology:DOID:12894); angle-closure glaucoma (Disease Ontology:DOID:13550); cystic fibrosis (Disease Ontology:DOID:1485); cystitis (Disease Ontology:DOID:1679); glaucoma (Disease Ontology:DOID:1686); pancreatic cancer (Disease Ontology:DOID:1793); asthma (Disease Ontology:DOID:2841); mucinous adenocarcinoma (Disease Ontology:DOID:3030); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); pulmonary fibrosis (Disease Ontology:DOID:3770); allergic rhinitis (Disease Ontology:DOID:4481); rhinitis (Disease Ontology:DOID:4483); common bile duct neoplasm (Disease Ontology:DOID:4608); cholangiocarcinoma (Disease Ontology:DOID:4947); stomach disease (Disease Ontology:DOID:76); corneal ulcer (Disease Ontology:DOID:8463); keratoconjunctivitis (Disease Ontology:DOID:9368)", "pathway": " (hsa:4586); (R-HSA-5083625); (R-HSA-5083632); (R-HSA-5083636); (R-HSA-5621480); (R-HSA-913709); (R-HSA-977068)", "pathway_count": 7, "publication_count": 95, "publication_id_list": "10.1101/2023.09.13.557529;10330415;10430883;10504389;10742600;10753916;11042166;11062056;11110698;11283017;11304796;11445551;11535137;11606584;11821425;12464682;12855678;1329093;14535999;14656219;14718370;15466199;15486459;15560372;15599692;15620693;15687324;16151858;16251947;16319059;16787389;17050534;17113861;18490740;18537974;18776906;18818202;19617566;21880719;22041900;22183981;22186971;22461326;23053572;23090970;23507963;23602766;2373995;24190977;24643043;25153226;25576301;25939779;2656675;27893789;29393594;29557506;29605689;29786170;29790264;30833945;32350084;32488085;33968037;34171305;35051231;35251023;35526384;36284347;36675209;36823694;37074911;37146737;37175794;37217939;37938771;39365189;7513696;7655172;7775418;8333853;8598452;8611500;8920913;8948439;8972730;9042338;9295285;9394011;9417100;9435216;9506983;9620876;9915862;9988682", "class_list": "glycogene", "function": "Gel-forming glycoprotein of gastric and respiratory tract epithelia that protects the mucosa from infection and chemical damage by binding to inhaled microorganisms and particles that are subsequently removed by the mucociliary system (PubMed:14535999, PubMed:14718370). Interacts with H.pylori in the gastric epithelium, Barrett's esophagus as well as in gastric metaplasia of the duodenum (GMD) (PubMed:14535999)., [UniProtKB, PubMed, PubMed]; KDELR2 is necessary for chronic obstructive pulmonary disease airway Mucin5AC hypersecretion via an IRE1alpha/XBP-1s-dependent mechanism., [RefSeq, PubMed]; MUC5AC Genetic Variation Is Associated With Tuberculous Meningitis Cerebral Spinal Fluid Cytokine Responses and Mortality., [RefSeq, PubMed]; Nebulized Menthol Impairs Mucociliary Clearance via TRPM8 and MUC5AC/MUC5B in Primary Airway Epithelial Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Predictive Value of MUC5AC Signature in Pancreatic Ductal Adenocarcinoma: A Hypothesis Based on Preclinical Evidence. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The association between MUC5AC and MUC5B genes expression and remodeling progression in severe neutrophilic asthma: A direct relationship., [RefSeq, PubMed]", "predicted_glycosites": 46, "predicted_n_glycosites": 10, "predicted_o_glycosites": 28, "predicted_c_glycosites": 8, "predicted_s_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": 32, "reported_c_glycosites": 1, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 6, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 1, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 10, "total_reported_o_glycosites": 33, "total_reported_c_glycosites": 1, "total_reported_s_glycosites": 0, "total_n_glycosites": 10, "total_o_glycosites": 33, "total_c_glycosites": 1, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 5, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 6566, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 24, "disease_count": 22, "glyco_site_count": 89, "binding_glycan_count": 0, "secondary_ac_list": "A0A096LPK4;O60460;O76065;Q13792;Q14425;Q658Q1;Q7M4S5;Q8N4M9;Q8WWQ3;Q8WWQ4;Q8WWQ5", "ec_number_list": "", "go_molecular_function": "GO:0046872 metal ion binding;GO:0005201 extracellular matrix structural constituent", "go_cellular_component": "GO:0070701 mucus layer;GO:0005615 extracellular space;GO:0005796 Golgi lumen;GO:0005886 plasma membrane;GO:0031012 extracellular matrix", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 16.4, "record_id": "P98088-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q2TV78-1", "uniprot_id": "MST1L_HUMAN", "mass": 79694.0, "length": 715, "protein_name": "Putative macrophage stimulating 1-like protein", "gene_name": "MST1L", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "MST1L; D1F15S1A; MST1P9; MSTP9", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative macrophage stimulating 1-like protein; BRF-1; Brain rescue factor 1; Hepatocyte growth factor-like protein homolog", "protein_names_refseq": "", "tax_id": 9606, "disease": "inflammatory bowel disease (Disease Ontology:DOID:0050589)", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "10728827", "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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7WPB1;Q13209", "ec_number_list": "", "go_molecular_function": "GO:0030971 receptor tyrosine kinase binding;GO:0008233 peptidase activity", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0046425 regulation of receptor signaling pathway via JAK-STAT;GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q2TV78-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5HYI7-1", "uniprot_id": "MTX3_HUMAN", "mass": 35093.0, "length": 312, "protein_name": "Metaxin-3", "gene_name": "MTX3", "organism": "Human", "refseq_name": "metaxin-3 isoform 2", "refseq_ac": "NP_001010891", "gene_names_uniprotkb": "MTX3", "gene_names_refseq": "MTX3", "protein_names_uniprotkb": "Metaxin-3", "protein_names_refseq": "metaxin-3 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:345778)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "20068231;21406692;23186163;26477565;26992070;28218747;28834231;28904123;29242379;29393594;29557506;29786170;31844290;32161166;32357974;32938616;33592498;33912179;33968037;34171305;34357683;35051231;36010968;36241641;38253038", "class_list": "", "function": "Could function in transport of proteins into the mitochondrion., [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": 3, "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": "B4DL65;E9PB57;Q7Z380;Q8NB92", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0001401 SAM complex;GO:0005739 mitochondrion;GO:0140275 MIB complex", "go_biological_process": "GO:0045040 protein insertion into mitochondrial outer membrane;GO:0015031 protein transport;GO:0007007 inner mitochondrial membrane organization;GO:0070096 mitochondrial outer membrane translocase complex assembly", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q5HYI7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6DT37-1", "uniprot_id": "MRCKG_HUMAN", "mass": 172459.0, "length": 1551, "protein_name": "Serine/threonine-protein kinase MRCK gamma", "gene_name": "CDC42BPG", "organism": "Human", "refseq_name": "serine/threonine-protein kinase MRCK gamma", "refseq_ac": "NP_059995", "gene_names_uniprotkb": "CDC42BPG; DMPK2", "gene_names_refseq": "CDC42BPG; DMPK2; HSMDPKIN; KAPPA-200; MRCKG; MRCKgamma", "protein_names_uniprotkb": "Serine/threonine-protein kinase MRCK gamma; 2.7.11.1; CDC42-binding protein kinase gamma; DMPK-like gamma; MRCK gamma; MRCKG; Myotonic dystrophy kinase-related CDC42-binding kinase gamma; Myotonic dystrophy protein kinase-like alpha; Myotonic dystrophy protein kinase-like gamma", "protein_names_refseq": "CDC42 binding protein kinase gamma (DMPK-like); DMPK-like gamma; MRCK gamma; myotonic dystrophy kinase-related CDC42-binding kinase gamma; myotonic dystrophy protein kinase like protein; myotonic dystrophy protein kinase-like alpha; myotonic dystrophy protein kinase-like gamma; serine/threonine-protein kinase MRCK gamma", "tax_id": 9606, "disease": "cerebral cavernous malformation (Disease Ontology:DOID:0060669); azoospermia (Disease Ontology:DOID:14227)", "pathway": " (hsa:55561)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "15194684;17344846;23186163;24714562;25645385;26992070;28834231;29124443;29393594;29557506;29632046;29769354;29786170;30779550;31154438;31844290;32938616;33968037;33981976;35051231;36241641;38253038;41350704;9341881", "class_list": "", "function": "CDC42BPG expression is regulated by promoter methylation and Sp1 binding., [RefSeq, PubMed]; Findings indicate that CDC42BPG may be a susceptibility locus for hyperuricemia., [RefSeq, PubMed]; May act as a downstream effector of CDC42 in cytoskeletal reorganization. Contributes to the actomyosin contractility required for cell invasion, through the regulation of MYPT1 and thus MLC2 phosphorylation (By similarity)., [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": 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": 0, "reported_glycation": 0, "reported_snv": 20, "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": "O00565", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0031252 cell leading edge", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0030036 actin cytoskeleton organization;GO:0031032 actomyosin structure organization", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q6DT37-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86SM5-1", "uniprot_id": "MRGRG_HUMAN", "mass": 31518.0, "length": 289, "protein_name": "Mas-related G protein-coupled receptor member G", "gene_name": "MRGPRG", "organism": "Human", "refseq_name": "mas-related G-protein coupled receptor member G", "refseq_ac": "NP_001157849", "gene_names_uniprotkb": "MRGPRG; GPR169; MRGG", "gene_names_refseq": "GPR169; MRGG; MRGPRG", "protein_names_uniprotkb": "Mas-related G protein-coupled receptor member G; G protein-coupled receptor 169", "protein_names_refseq": "G protein-coupled receptor 169; G protein-coupled receptor MRGG; mas-related G-protein coupled receptor member G", "tax_id": 9606, "disease": "", "pathway": " (hsa:386746)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "12679517;35051231", "class_list": "", "function": "Orphan receptor. May regulate nociceptor function and/or development, including the sensation or modulation of pain (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": 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:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q86SM5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86SM8-1", "uniprot_id": "MRGRE_HUMAN", "mass": 34286.0, "length": 312, "protein_name": "Mas-related G protein-coupled receptor member E", "gene_name": "MRGPRE", "organism": "Human", "refseq_name": "mas-related G-protein coupled receptor member E", "refseq_ac": "NP_001034254", "gene_names_uniprotkb": "MRGPRE; GPR167; MRGE", "gene_names_refseq": "GPR167; MGRF; MRGE; MRGPRE", "protein_names_uniprotkb": "Mas-related G protein-coupled receptor member E; G protein-coupled receptor 167", "protein_names_refseq": "G-protein coupled receptor 167; MAS-related GPR, member E; Mas-related G protein-coupled receptor F; mas-related G protein-coupled MRGE; mas-related G-protein coupled receptor member E", "tax_id": 9606, "disease": "", "pathway": " (hsa:116534)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "12679517;32938616;35051231;40446798", "class_list": "", "function": "G protein-coupled receptor for L-tryptophanocholate (Trp-CA), an amino-acid-conjugated bile acid produced by the microbiome, which regulates glucose homeostasis (PubMed:40446798). Expressed in enteroendocrine L cells of the gut epithelium: Trp-CA binding causes a conformation change that triggers signaling via G(s) G protein, mediating activation of adenylate cyclase activity (PubMed:40446798). In addition to G(s), MRGPRE also associates with beta-arrestin-1 (ARRB1), promoting phosphorylation of ALDOA (PubMed:40446798). Both G(s) and beta-arrestin-1 signaling pathways improves glucose tolerance by enhancing GLP-1 secretion (PubMed:40446798)., [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": 7, "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": "Q2M1V7", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0038182 G protein-coupled bile acid receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus;GO:0001678 intracellular glucose homeostasis", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q86SM8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q93083-1", "uniprot_id": "MT1L_HUMAN", "mass": 6062.0, "length": 61, "protein_name": "Metallothionein-1L", "gene_name": "MT1L", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "MT1L", "gene_names_refseq": "", "protein_names_uniprotkb": "Metallothionein-1L; MT-1L; MT-IL; Metallothionein-IL", "protein_names_refseq": "", "tax_id": 9606, "disease": "retinitis pigmentosa (Disease Ontology:DOID:10584); Alzheimer's disease (Disease Ontology:DOID:10652); kidney failure (Disease Ontology:DOID:1074); transient cerebral ischemia (Disease Ontology:DOID:224); median neuropathy (Disease Ontology:DOID:571)", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "8766831", "class_list": "", "function": "Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids., [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": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0071276 cellular response to cadmium ion;GO:0071280 cellular response to copper ion;GO:0010273 detoxification of copper ion;GO:0006882 intracellular zinc ion homeostasis;GO:0071294 cellular response to zinc ion", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q93083-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96J65-1", "uniprot_id": "MRP9_HUMAN", "mass": 152285.0, "length": 1359, "protein_name": "ATP-binding cassette sub-family C member 12", "gene_name": "ABCC12", "organism": "Human", "refseq_name": "ATP-binding cassette sub-family C member 12 isoform 1", "refseq_ac": "NP_150229", "gene_names_uniprotkb": "ABCC12; MRP9", "gene_names_refseq": "ABCC12; MRP9", "protein_names_uniprotkb": "ATP-binding cassette sub-family C member 12; Multidrug resistance-associated protein 9", "protein_names_refseq": "ATP-binding cassette sub-family C member 12 isoform 1; ATP-binding cassette sub-family C member 12; ATP-binding cassette transporter sub-family C member 12; ATP-binding cassette, sub-family C (CFTR/MRP), member 12; multidrug resistance-associated protein 9", "tax_id": 9606, "disease": "cystic fibrosis (Disease Ontology:DOID:1485)", "pathway": " (hsa:94160)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "11237011;11483364;11688999;12011458;17472575;20877624;24366607;26154972;27846572;27920218;28228285;28904123;31844290;32387766;32897882;32938616;33091337;33298915;33392160;33771553;33968037;34509645;35051231;39894887", "class_list": "", "function": "Alternative splice variants and gene expression, [RefSeq, PubMed]; Deleterious Variants in ABCC12 are Detected in Idiopathic Chronic Cholestasis and Cause Intrahepatic Bile Duct Loss in Model Organisms., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Probable transporter, its substrate specificity is unknown., [UniProtKB, PubMed]; This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two ATP-binding domains and 12 transmembrane regions. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies: ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White. This gene is a member of the MRP subfamily which is involved in multi-drug resistance. This gene and another subfamily member are arranged head-to-tail on chromosome 16q12.1. Increased expression of this gene is associated with breast cancer. [provided by RefSeq, Jul 2008]., [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": 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": 48, "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": "A0A8J8YUR7;Q49AL2;Q8TAF0;Q8TEY2", "ec_number_list": "", "go_molecular_function": "GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0140359 ABC-type transporter activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0055085 transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q96J65-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96LA9-1", "uniprot_id": "MRGX4_HUMAN", "mass": 36461.0, "length": 322, "protein_name": "Mas-related G protein-coupled receptor member X4", "gene_name": "MRGPRX4", "organism": "Human", "refseq_name": "mas-related G-protein coupled receptor member X4", "refseq_ac": "NP_473373", "gene_names_uniprotkb": "MRGPRX4; MRGX4; SNSR5; SNSR6", "gene_names_refseq": "GPCR; MRGPRX4; MRGX4; SNSR6", "protein_names_uniprotkb": "Mas-related G protein-coupled receptor member X4; Sensory neuron-specific G protein-coupled receptor 5/6", "protein_names_refseq": "G protein-coupled receptor MRGX4; G protein-coupled receptor SNSR5; G protein-coupled receptor SNSR6; MAS-related GPR, member X4; Mas-related G protein-coupled receptor X4; mas-related G-protein coupled receptor member X4; sensory neuron-specific G-protein coupled receptor 5/6", "tax_id": 9606, "disease": "", "pathway": " (hsa:117196)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11551509;11850634;30768591;31068464;31500698;32387766;34789874;37003505;38718132;39476841", "class_list": "", "function": "Data indicate that genetic variation in MRGPRX4 contributes to inter-individual and inter-ethnic differences in the preference for mentholated cigarettes. Publication Status: Online-Only, [RefSeq, PubMed]; Data support a model whereby both bile acids and bilirubin contribute to cholestatic itch via agonism at MRGPRX4, [RefSeq, PubMed]; G protein-coupled receptor for bile acids, which is specifically expressed in sensory neurons of dorsal root ganglion and is involved in itch perception (PubMed:31068464, PubMed:31500698, PubMed:34789874, PubMed:38718132, PubMed:39476841). Activated by bile acids, such as deoxycholate, chenodeoxycholate, taurocholate, taurodeoxycholate and taurodeoxycholate (PubMed:31068464, PubMed:31500698, PubMed:39476841). Has a preference for 3-sulfated bile acids, such as deoxycholate 3-sulfate, glycoursodeoxycholate 3-sulfate and tauroursodeoxycholate 3-sulfate, which are present at high level in cholestatic patients with itch symptoms (PubMed:39476841). Bile acid-binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors (PubMed:30768591, PubMed:31068464, PubMed:31500698, PubMed:34789874, PubMed:38718132, PubMed:39476841). MRGPRX4 is coupled to G(q)/G(11) G alpha proteins and activates phospholipase C-beta, releasing diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) second messengers that modulate the activity of phosphatidylinositol 3-kinase and promote the release of Ca2+ ions from intracellular stores, respectively (PubMed:30768591, PubMed:31068464, PubMed:31500698, PubMed:34789874, PubMed:38718132, PubMed:39476841)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Itch receptor MRGPRX4 interacts with the receptor activity-modifying proteins., [RefSeq, PubMed]; MRGPRX4 mediates phospho-drug-associated pruritus in a humanized mouse model., [RefSeq, PubMed]; Structure, function and pharmacology of human itch GPCRs., [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": 14, "reported_glycation": 0, "reported_snv": 17, "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": "Q3KNU3;Q3KNU4;Q502W0;Q8TDD6;Q8TDD7", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0038182 G protein-coupled bile acid 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;GO:0160025 sensory perception of itch", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q96LA9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96CW9-1", "uniprot_id": "NTNG2_HUMAN", "mass": 59799.0, "length": 530, "protein_name": "Netrin-G2", "gene_name": "NTNG2", "organism": "Human", "refseq_name": "netrin-G2 precursor", "refseq_ac": "NP_115925", "gene_names_uniprotkb": "NTNG2; KIAA1857; LMNT2; PRO34206", "gene_names_refseq": "LHLL9381; Lmnt2; NEDBASH; NTNG1; NTNG2; NetrinG2; bA479K20.1", "protein_names_uniprotkb": "Netrin-G2; Laminet-2", "protein_names_refseq": "Netrin-G2; laminet 2; netrin G1; netrin-G2 precursor", "tax_id": 9606, "disease": "neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia (MONDO:MONDO:0032878)", "pathway": " (hsa:84628); (R-HSA-163125)", "pathway_count": 2, "publication_count": 16, "publication_id_list": "11072085;12975309;15705354;17507910;21946559;22041449;22957104;2443973;24714562;29557506;31372774;31668703;31692205;31844290;3422494;37217939", "class_list": "", "function": "An association between NTNG2 and schizophrenia was observed with SNPs and haplotypes that clustered in the 5' region of the gene., [RefSeq, PubMed]; Appropriate expression of NTNG2 plays an important role in neurotypical development., [RefSeq, PubMed]; Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features., [RefSeq, PubMed]; Involved in controlling patterning and neuronal circuit formation at the laminar, cellular, subcellular and synaptic levels. Promotes neurite outgrowth of both axons and dendrites., [UniProtKB, PubMed]; Netrin-G2 dysfunction causes a Rett-like phenotype with areflexia., [RefSeq, PubMed]; Presence of Gng2 and Netrin-G2 immunoreactive elements in the insular cortex, but not in the putamen, suggests a possible common ontogeny of the claustrum and insula, [RefSeq, PubMed]; The crystal structure for a fragment comprising the LN domain and domain LE1 of netrin G2 by sulfur single-wavelength anomalous diffraction phasing and refined it to 1.8 A resolution was determined., [RefSeq, PubMed]; The data of this stusty implicate NTNG2 in the pathophysiology of schizophrenia and bipolar disorder, but do not support the hypothesis that altered mRNA expression is the mechanism by which genetic variation of NTNG2 may confer disease susceptibility., [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": 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": 0, "reported_glycation": 0, "reported_snv": 26, "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": "Q5JUJ2;Q6UXY0;Q96JH0", "ec_number_list": "", "go_molecular_function": "GO:0098632 cell-cell adhesion mediator activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0048787 presynaptic active zone membrane;GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0030424 axon", "go_biological_process": "GO:0007409 axonogenesis;GO:0050804 modulation of chemical synaptic transmission;GO:0010975 regulation of neuron projection development;GO:0099560 synaptic membrane adhesion;GO:2001222 regulation of neuron migration", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q96CW9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6UXV4-1", "uniprot_id": "MIC27_HUMAN", "mass": 29159.0, "length": 268, "protein_name": "MICOS complex subunit MIC27", "gene_name": "APOOL", "organism": "Human", "refseq_name": "MICOS complex subunit MIC27 precursor", "refseq_ac": "NP_940852", "gene_names_uniprotkb": "APOOL; CXorf33; FAM121A; MIC27; PRO23204", "gene_names_refseq": "APOOL; CXorf33; FAM121A; MICOS27; Mic27; UNQ8193", "protein_names_uniprotkb": "MICOS complex subunit MIC27; Apolipoprotein O-like; Protein FAM121A", "protein_names_refseq": "AAIR8193; MICOS complex subunit MIC27 precursor; MICOS complex subunit MIC27; family with sequence similarity 121A; mitochondrial contact site and cristae organizing system subunit 27", "tax_id": 9606, "disease": "syndrome (Disease Ontology:DOID:225)", "pathway": " (hsa:139322); (R-HSA-114608); (R-HSA-8949613)", "pathway_count": 3, "publication_count": 73, "publication_id_list": "12975309;1435334;14630798;15297306;17081983;17121862;17510655;17624330;18323778;20833715;21836051;22114354;22252321;22864911;23481700;23640497;23704930;24098383;24275569;24687277;24714562;24715725;25285856;25576301;25645385;25764979;25781180;25880248;25997101;26154972;26375851;26416881;26477565;26530328;26728094;26968360;26992070;27479602;27485409;27600516;27623147;27846572;27869121;28228285;28832583;28834231;29371260;29493099;29508533;29557506;29786170;30379171;31154438;31844290;31848261;31998317;32157095;32161166;32357974;32488085;32502341;32788226;32938616;32983136;33298915;33592498;33717175;35051231;35580925;36284347;37938771;6457647;8467233", "class_list": "glycogene", "function": "APOOL is a cardiolipin-binding component of the Mitofilin/MINOS protein complex. Publication Status: Online-Only, [RefSeq, PubMed]; Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. Specifically binds to cardiolipin (in vitro) but not to the precursor lipid phosphatidylglycerol. Plays a crucial role in crista junction formation and mitochondrial function (PubMed:23704930), (PubMed:25764979)., [UniProtKB, PubMed, PubMed]; MIC26 and MIC27 cooperate to regulate cardiolipin levels and the landscape of OXPHOS complexes. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein which contains an apolipoprotein O superfamily domain. This domain is found on proteins in circulating lipoprotein complexes. [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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 278, "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": "Q3KNU7;Q5H9D1", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0001401 SAM complex;GO:0005576 extracellular region;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0031093 platelet alpha granule lumen", "go_biological_process": "GO:0042407 cristae formation;GO:0007007 inner mitochondrial membrane organization", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "Q6UXV4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z2Q7-1", "uniprot_id": "LRR70_HUMAN", "mass": 70301.0, "length": 622, "protein_name": "Leucine-rich repeat-containing protein 70", "gene_name": "LRRC70", "organism": "Human", "refseq_name": "leucine-rich repeat-containing protein 70 precursor", "refseq_ac": "NP_852607", "gene_names_uniprotkb": "LRRC70; PRO4337", "gene_names_refseq": "LRRC70; SLRN", "protein_names_uniprotkb": "Leucine-rich repeat-containing protein 70; Synleurin", "protein_names_refseq": "leucine-rich repeat-containing protein 70 precursor; leucine-rich repeat-containing protein 70; synleurin", "tax_id": 9606, "disease": "", "pathway": " (hsa:100130733)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;12767927;12975309;30459171;31154438;31848261;35580925", "class_list": "", "function": "Renders cells highly sensitive to the activation by cytokines and lipopolysaccharide (LPS)., [UniProtKB, PubMed]; Synleurin, a novel leucine-rich repeat protein that increases the intensity of pleiotropic cytokine and growth factor responses., [RefSeq, 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": 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": 25, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q6ZWI5", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0060760 positive regulation of response to cytokine stimulus", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q7Z2Q7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IZL2-1", "uniprot_id": "MAML2_HUMAN", "mass": 125197.0, "length": 1156, "protein_name": "Mastermind-like protein 2", "gene_name": "MAML2", "organism": "Human", "refseq_name": "mastermind-like protein 2", "refseq_ac": "NP_115803", "gene_names_uniprotkb": "MAML2; KIAA1819", "gene_names_refseq": "MAM-3; MAM2; MAM3; MAML2; MLL-MAML2", "protein_names_uniprotkb": "Mastermind-like protein 2; Mam-2", "protein_names_refseq": "mam-2; mastermind-like 2; mastermind-like protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:84441); (R-HSA-1912408); (R-HSA-210744); (R-HSA-2122947); (R-HSA-2197563); (R-HSA-2644606); (R-HSA-2894862); (R-HSA-350054); (R-HSA-8941856); (R-HSA-9013508); (R-HSA-9013695); (R-HSA-9793380); (R-HSA-9976102)", "pathway_count": 13, "publication_count": 152, "publication_id_list": "10206645;10713164;10879540;10882063;10964718;11006133;11044625;11101851;11112321;11461910;11585921;11740940;11866432;11986231;12050117;12209127;12354787;12370315;12374742;12386158;12391150;12530964;12539049;14672936;14720503;14980219;14991602;15107403;15472075;15531924;15546612;15574878;15684396;15729701;15760269;15824097;15829515;16093323;16256737;16530044;16530045;16612405;16738328;16751179;17003037;17114293;17157496;17284587;17344417;17401372;17540598;17540599;17554337;17646408;17646409;17685488;17823410;18043734;18050304;18077452;18094723;18239137;18296446;1831692;18374649;18724371;18824583;18824585;18974129;19150886;19151708;19524514;19714243;19723635;19726682;19773441;19800882;20080834;20090754;20351093;20442293;20442780;20495621;20801121;20804727;20805998;20972443;21280156;21402699;21551231;21602795;21637926;21875955;22110129;22299025;22396495;23186163;24714562;24855209;25417103;26387946;26801977;26977885;27749937;27841855;28063628;28178531;28832583;29101237;29146722;29242379;29393594;29632046;31844290;32157095;32387766;32502341;32938616;32983136;33214551;33298915;33717175;33912179;33968037;34019948;34509645;34932366;35051231;35561310;35580925;36344258;36675234;36898841;37489594;38253038;38665916;39531497;7566092;7588063;8001118;8649374;8687460;8878478;9244301;9315665;9462510;9604939;9620803;9651681;9693032;9694793;9819428", "class_list": "", "function": "Acts as a transcriptional coactivator for NOTCH proteins. Has been shown to amplify NOTCH-induced transcription of HES1. Potentiates activation by NOTCH3 and NOTCH4 more efficiently than MAML1 or MAML3., [UniProtKB, PubMed, PubMed, PubMed]; Cloning and functional analyses of the t(11;19) fusion oncogene t(11;19)(q21;p13) translocation in mucoepidermoid carcinoma creates a novel fusion product that disrupts a Notch signaling pathway. Erratum:[Nat Genet. 2003 Mar;33(3):430], [RefSeq, PubMed]; Cloning of a novel fusion gene in mucoepidermoid carcinomas & benign Warthin's tumors; the fusion, which results from a translocation, creates a chimeric gene in which exon 1 of a novel gene designated WAMTP1 is linked to exons 2-5 of MAML2 [WAMPT1], [RefSeq, PubMed]; Establishment of Mucoepidermoid Carcinoma Cell Lines from Surgical and Recurrence Biopsy Specimens. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of new human proteins defines a family that consists of positive regulators for notch signaling, [RefSeq, PubMed]; Malignant undifferentiated epithelioid neoplasms with MAML2 rearrangements: A clinicopathologic study of seven cases demonstrating a heterogenous entity., [RefSeq, PubMed]; Pathogenic variations in MAML2 and MAMLD1 contribute to congenital hypothyroidism due to dyshormonogenesis by regulating the Notch signalling pathway., [RefSeq, PubMed]; Significance of YAP1-MAML2 rearrangement and GTF2I mutation in the diagnosis and differential diagnosis of metaplastic thymoma., [RefSeq, PubMed]; Study reports for the first time a CRTC3-MAML2 fusion gene in a mucoepidermoid carcinoma, as determined by RT-PCR and sequencing., [RefSeq, PubMed]; The protein encoded by this gene is a member of the Mastermind-like family of proteins. All family members are proline and glutamine-rich, and contain a conserved basic domain that binds the ankyrin repeat domain of the intracellular domain of the Notch receptors (ICN1-4) in their N-terminus, and a transcriptional activation domain in their C-terminus. This protein binds to an extended groove that is formed by the interaction of CBF1, Suppressor of Hairless, LAG-1 (CSL) with ICN, and positively regulates Notch signaling. High levels of expression of this gene have been observed in several B cell-derived lymphomas. Translocations resulting in fusion proteins with both CRTC1 and CRTC3 have been implicated in the development of mucoepidermoid carcinomas, while a translocation event with CXCR4 has been linked with chronic lymphocytic leukemia (CLL). Copy number variation in the polyglutamine tract has been observed. [provided by RefSeq, Jan 2015]., [RefSeq]; The rearrangement between MAML2 and CXCR4, created by a t(2;11)(q22.1;q21) translocation, results in a new fusion gene in which a portion of CXCR4 is linked to the MAML2 gene., [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": 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": 0, "reported_glycation": 0, "reported_snv": 38, "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": "A7MD26;Q6AI23;Q6Y3A3;Q8IUL3;Q96JK6", "ec_number_list": "", "go_molecular_function": "GO:0003713 transcription coactivator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0016604 nuclear body", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0007219 Notch signaling pathway;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0007221 positive regulation of transcription of Notch receptor target", "synthesized_glycan_count": 0, "hit_score": 15.8, "record_id": "Q8IZL2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BTT4-1", "uniprot_id": "MED10_HUMAN", "mass": 15688.0, "length": 135, "protein_name": "Mediator of RNA polymerase II transcription subunit 10", "gene_name": "MED10", "organism": "Human", "refseq_name": "mediator of RNA polymerase II transcription subunit 10", "refseq_ac": "NP_115662", "gene_names_uniprotkb": "MED10; L6; TRG17; TRG20", "gene_names_refseq": "L6; MED10; NUT2; TRG20", "protein_names_uniprotkb": "Mediator of RNA polymerase II transcription subunit 10; Mediator complex subunit 10; TRG-17; TRG-20; Transformation-related gene 17 protein; Transformation-related gene 20 protein", "protein_names_refseq": "TRG-17; TRG-20; mediator of RNA polymerase II transcription subunit 10; transformation-related gene 17 protein; transformation-related gene 20 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:84246); (R-HSA-1989781); (R-HSA-212436); (R-HSA-381340); (R-HSA-9833110); (R-HSA-9841922)", "pathway_count": 6, "publication_count": 141, "publication_id_list": "10024883;10075656;10235266;10330177;10425206;10558993;10777541;10835357;10882139;10993082;11027271;11095972;11267664;11395415;11607032;11872672;12118000;12177166;12213831;12505311;12582161;12829629;1310260;14519192;14976261;15067378;15130092;15175151;15175163;15273253;15334068;15635043;15850785;15896744;15919796;15989967;16380219;16606702;16719718;16972786;17011499;17761950;17980149;18420935;18540824;18719978;18848529;18931025;19043829;19088433;19115207;19172745;19710929;19934321;20101261;20110263;20410276;2163759;22090124;23239344;24196956;24366607;25418920;25576301;25854864;25880248;26375851;26929215;26992070;27600516;27846572;27920218;28063628;28218747;28228285;28514659;28649982;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;30315122;30429286;30779550;31092671;31154438;31217245;31222486;31530632;31844290;31848261;31998317;32157095;32357974;32897882;32938616;32983136;33329381;33592498;33691108;33912179;33936100;33968037;33981976;34087483;34561969;34932366;35051231;35561310;35580925;36102648;36284347;37217939;37938771;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]; MED10 is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).[supplied by OMIM, 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": 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": "C6G491", "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_biological_process": "GO:0060261 positive regulation of transcription initiation 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": 14.4, "record_id": "Q9BTT4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96DS6-1", "uniprot_id": "M4A6E_HUMAN", "mass": 15909.0, "length": 147, "protein_name": "Membrane-spanning 4-domains subfamily A member 6E", "gene_name": "MS4A6E", "organism": "Human", "refseq_name": "membrane-spanning 4-domains subfamily A member 6E", "refseq_ac": "NP_640342", "gene_names_uniprotkb": "MS4A6E", "gene_names_refseq": "MS4A6E", "protein_names_uniprotkb": "Membrane-spanning 4-domains subfamily A member 6E", "protein_names_refseq": "membrane-spanning 4-domains subfamily A member 6E; membrane-spanning 4-domains, subfamily A, member 6E", "tax_id": 9606, "disease": "", "pathway": " (hsa:245802)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;11486273;21460841;22424782;24715725;26154972;28228285;31092671;31844290;32357974;32983136;33141586;33392160;34211107;35051231;35580925", "class_list": "", "function": "Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease., [RefSeq, PubMed]; May be involved in signal transduction as a component of a multimeric receptor complex., [UniProtKB]; This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.3, among a cluster of family members. [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": 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": "Q3MIL2;Q8NE56;Q96PG4;Q96PG5", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005802 trans-Golgi network;GO:0016020 membrane", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q96DS6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99972-1", "uniprot_id": "MYOC_HUMAN", "mass": 56972.0, "length": 504, "protein_name": "Myocilin", "gene_name": "MYOC", "organism": "Human", "refseq_name": "myocilin precursor", "refseq_ac": "NP_000252", "gene_names_uniprotkb": "MYOC; GLC1A; TIGR", "gene_names_refseq": "GLC1A; GPOA; JOAG1; JOAG; MYOC; TIGR", "protein_names_uniprotkb": "Myocilin; Myocilin 20 kDa N-terminal fragment; Myocilin 35 kDa N-terminal fragment; Myocilin 55 kDa subunit; Trabecular meshwork-induced glucocorticoid response protein", "protein_names_refseq": "juvenile-onset open-angle glaucoma 1; mutated trabecular meshwork-induced glucocorticoid response protein; myocilin 55 kDa subunit; myocilin precursor; myocilin protein; myocilin trabecular meshwork inducible glucocorticoid response protein", "tax_id": 9606, "disease": "open-angle glaucoma (Disease Ontology:DOID:1067); juvenile glaucoma (Disease Ontology:DOID:1068); primary open angle glaucoma (Disease Ontology:DOID:1070); buphthalmos (Disease Ontology:DOID:11211); low tension glaucoma (Disease Ontology:DOID:13544); membranoproliferative glomerulonephritis (Disease Ontology:DOID:2920); ocular hypertension (Disease Ontology:DOID:9282)", "pathway": " (hsa:4653)", "pathway_count": 1, "publication_count": 73, "publication_id_list": "10196380;10330365;10340788;10644174;10798654;10819638;10873982;10916185;10980537;11004290;11053284;11237011;11431441;11773026;11773029;11774072;11923248;12019210;12189160;12356829;12362081;12442283;12615070;12697062;12860809;12872267;15025728;15255110;15534471;15733270;15795224;15944158;16401791;17210859;17499207;17516541;17650508;17984096;18855004;19188438;19287508;19959812;21656515;23629661;23897819;25524706;29557506;30315122;32387766;35014583;35051231;35580925;36069958;36834493;37217093;37217939;37247815;9005853;9169133;9280311;9328473;9345106;9361308;9446806;9490287;9497363;9510647;9521427;9535666;9548973;9697688;9792882;9863594", "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]; Human Pro370Leu Mutant Myocilin Induces the Phenotype of Open-Angle Glaucoma in Transgenic Mice., [RefSeq, PubMed]; MYOC encodes the protein myocilin, which is believed to have a role in cytoskeletal function. MYOC is expressed in many occular tissues, including the trabecular meshwork, and was revealed to be the trabecular meshwork glucocorticoid-inducible response protein (TIGR). The trabecular meshwork is a specialized eye tissue essential in regulating intraocular pressure, and mutations in MYOC have been identified as the cause of hereditary juvenile-onset open-angle glaucoma. [provided by RefSeq, Jul 2008]., [RefSeq]; Myocilin misfolding and glaucoma: A 20-year update. Review article, [RefSeq, PubMed]; Penetrance of MYOC gene mutation in primary open-angle glaucoma: A systematic review and meta-analysis., [RefSeq, PubMed]; Secreted glycoprotein regulating the activation of different signaling pathways in adjacent cells to control different processes including cell adhesion, cell-matrix adhesion, cytoskeleton organization and cell migration. Promotes substrate adhesion, spreading and formation of focal contacts. Negatively regulates cell-matrix adhesion and stress fiber assembly through Rho protein signal transduction. Modulates the organization of actin cytoskeleton by stimulating the formation of stress fibers through interactions with components of Wnt signaling pathways. Promotes cell migration through activation of PTK2 and the downstream phosphatidylinositol 3-kinase signaling. Plays a role in bone formation and promotes osteoblast differentiation in a dose-dependent manner through mitogen-activated protein kinase signaling. Mediates myelination in the peripheral nervous system through ERBB2/ERBB3 signaling. Plays a role as a regulator of muscle hypertrophy through the components of dystrophin-associated protein complex. Involved in positive regulation of mitochondrial depolarization. Plays a role in neurite outgrowth. May participate in the obstruction of fluid outflow in the trabecular meshwork., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Variable phenotypic expression of MYOC mutations in a family with inherited pediatric glaucoma., [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": 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": 6, "reported_glycation": 0, "reported_snv": 14, "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": "B2RD84;O00620;Q7Z6Q9", "ec_number_list": "", "go_molecular_function": "GO:0005109 frizzled binding;GO:0046872 metal ion binding;GO:0030971 receptor tyrosine kinase binding;GO:0001968 fibronectin binding;GO:0032027 myosin light chain binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005741 mitochondrial outer membrane;GO:0005743 mitochondrial inner membrane;GO:0005758 mitochondrial intermembrane space;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0007165 signal transduction;GO:0030335 positive regulation of cell migration;GO:0031175 neuron projection development;GO:0046330 positive regulation of JNK cascade;GO:0051897 positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q99972-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z3B1-1", "uniprot_id": "NEGR1_HUMAN", "mass": 38719.0, "length": 354, "protein_name": "Neuronal growth regulator 1", "gene_name": "NEGR1", "organism": "Human", "refseq_name": "neuronal growth regulator 1 precursor", "refseq_ac": "NP_776169", "gene_names_uniprotkb": "NEGR1; IGLON4; PRO4993", "gene_names_refseq": "DMML2433; IGLON4; KILON; NEGR1; Ntra", "protein_names_uniprotkb": "Neuronal growth regulator 1; IgLON family member 4", "protein_names_refseq": "IgLON family member 4; a kindred of IgLON; neuronal growth regulator 1 precursor; neurotractin", "tax_id": 9606, "disease": "", "pathway": " (hsa:257194); (R-HSA-163125)", "pathway_count": 2, "publication_count": 18, "publication_id_list": "10.1101/2023.09.13.557529;11072085;12975309;17566972;20068231;2443973;31844290;32157095;33592498;33968037;3422494;34739656;35051231;35090585;36010968;37074911;37935012;39034913", "class_list": "", "function": "CircDLGAP4 overexpression relieves oxygen-glucose deprivation-induced neuronal injury by elevating NEGR1 through sponging miR-503-3p., [RefSeq, PubMed]; Harnessing tissue-specific genetic variation to dissect putative causal pathways between body mass index and cardiometabolic phenotypes., [RefSeq, PubMed]; May be involved in cell-adhesion. May function as a trans-neural growth-promoting factor in regenerative axon sprouting in the mammalian brain (By similarity)., [UniProtKB]; Plasma Neuronal Growth Regulator 1 May Link Physical Activity to Reduced Risk of Type 2 Diabetes: A Proteome-Wide Study of ARIC Participants., [RefSeq, PubMed]; The Association between Obesity Susceptibility and Polymorphisms of MC4R, SH2B1, and NEGR1 in Tibetans., [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": 6, "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": 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": 38, "reported_interactions": 0, "missing_score": 9452, "biomarker_type": "", "glycan_count": 12, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q5VT21;Q6UY06;Q8N440;Q8NAQ3", "ec_number_list": "", "go_molecular_function": "GO:0044325 transmembrane transporter binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0014069 postsynaptic density;GO:0043025 neuronal cell body;GO:0043197 dendritic spine", "go_biological_process": "GO:0044860 protein localization to plasma membrane raft;GO:0042632 cholesterol homeostasis;GO:0031647 regulation of protein stability;GO:0060253 negative regulation of glial cell proliferation;GO:0051963 regulation of synapse assembly", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q7Z3B1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HD90-1", "uniprot_id": "NDF4_HUMAN", "mass": 37041.0, "length": 331, "protein_name": "Neurogenic differentiation factor 4", "gene_name": "NEUROD4", "organism": "Human", "refseq_name": "neurogenic differentiation factor 4", "refseq_ac": "NP_067014", "gene_names_uniprotkb": "NEUROD4; ATH3; ATOH3; BHLHA4", "gene_names_refseq": "ATH-3; ATH3; Atoh3; MATH-3; MATH3; NEUROD4; bHLHa4", "protein_names_uniprotkb": "Neurogenic differentiation factor 4; ATH-3; Atoh3; Class A basic helix-loop-helix protein 4; NeuroD4; Protein atonal homolog 3; bHLHa4", "protein_names_refseq": "class A basic helix-loop-helix protein 4; neurogenic differentiation 4; neurogenic differentiation factor 4; protein atonal homolog 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:58158)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11078465;19086053;30379171;35051231;35580925", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Probably acts as a transcriptional activator. Mediates neuronal differentiation. Required for the regulation of amacrine cell fate specification in the retina (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": 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": 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": "B2RAC9", "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:0005654 nucleoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0045597 positive regulation of cell differentiation;GO:0061564 axon development;GO:0043010 camera-type eye development", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q9HD90-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96MF7-1", "uniprot_id": "NSE2_HUMAN", "mass": 27932.0, "length": 247, "protein_name": "E3 SUMO-protein ligase NSE2", "gene_name": "NSMCE2", "organism": "Human", "refseq_name": "E3 SUMO-protein ligase NSE2 isoform 1", "refseq_ac": "NP_775956", "gene_names_uniprotkb": "NSMCE2; C8orf36; MMS21", "gene_names_refseq": "C8orf36; MMS21; NSE2; NSMCE2; ZMIZ7", "protein_names_uniprotkb": "E3 SUMO-protein ligase NSE2; 2.3.2.-; E3 SUMO-protein transferase NSE2; MMS21 homolog; Non-SMC element 2 homolog; Non-structural maintenance of chromosomes element 2 homolog; hMMS21", "protein_names_refseq": "E3 SUMO-protein ligase NSE2 isoform 1; E3 SUMO-protein ligase NSE2; E3 SUMO-protein transferase NSE2; NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase; NSMCE2/PVT1 fusion; PVT1/NSMCE2 fusion; methyl methanesulfonate sensitivity gene 21; non-SMC element 2, MMS21 homolog; non-structural maintenance of chromosomes element 2 homolog; zinc finger, MIZ-type containing 7", "tax_id": 9606, "disease": "Seckel syndrome 10 (Disease Ontology:DOID:0070008); Bloom syndrome (Disease Ontology:DOID:2717)", "pathway": " (hsa:286053); (R-HSA-3108214)", "pathway_count": 2, "publication_count": 94, "publication_id_list": "10574707;11237011;11792325;11889051;15175327;15355988;15608651;15823533;15829507;15940266;15959518;16030353;16055714;16478998;16608850;16626738;16688858;16810316;16959974;17589526;17693435;17924679;18086888;18625722;18669648;18691969;18708356;19287951;19502785;19596686;19622798;19706679;19779455;19956565;20016594;20016603;20068231;20190268;20705237;21098080;21147198;21284855;21550342;22424782;22508508;22635276;22661230;22751501;23186163;23750026;23871147;24027577;24782567;25105364;25114211;25218447;25576301;25880248;26375851;26992070;27600516;28063628;28832583;28834231;28904123;29242379;29632046;30379171;31217245;31400850;31585101;31844290;32157095;32350084;32357974;32488085;32502341;32938616;32983136;33592498;33912179;33981976;34171305;34357683;34405274;35051231;35251023;35580925;36224576;36284347;9412458;9452416;9756909;9885291", "class_list": "", "function": "E3 SUMO-protein ligase component of the SMC5-SMC6 complex, a complex involved in DNA double-strand break repair by homologous recombination (PubMed:16055714, PubMed:16810316). Is not be required for the stability of the complex (PubMed:16055714, PubMed:16810316). The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks (PubMed:16055714, PubMed:16810316). The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML bodies (APBs) (PubMed:17589526). Acts as an E3 ligase mediating SUMO attachment to various proteins such as SMC6L1 and TSNAX, the shelterin complex subunits TERF1, TERF2, TINF2 and TERF2IP, RAD51AP1, and maybe the cohesin components RAD21 and STAG2 (PubMed:16055714, PubMed:16810316, PubMed:17589526, PubMed:31400850). Required for recruitment of telomeres to PML nuclear bodies (PubMed:17589526). SUMO protein-ligase activity is required for the prevention of DNA damage-induced apoptosis by facilitating DNA repair, and for formation of APBs in ALT cell lines (PubMed:17589526). Required for sister chromatid cohesion during prometaphase and mitotic progression (PubMed:19502785)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; NSMCE2, a novel super-enhancer-regulated gene, is linked to poor prognosis and therapy resistance in breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The human SMC5/6 complex and the SUMO ligase activity of hMMS21 are required for the prevention of DNA damage-induced apoptosis by facilitating DNA repair in human cells, [RefSeq, PubMed]; This gene encodes a member of a family of E3 small ubiquitin-related modifier (SUMO) ligases that mediates the attachment of a SUMO protein to proteins involved in nuclear transport, transcription, chromosome segregation and DNA repair. The encoded protein is part of the structural maintenance of chromosomes (SMC) 5/6 complex which plays a key role genome maintenance, facilitating chromosome segregation and suppressing mitotic recombination. A knockout of the orthologous mouse gene is lethal prior to embryonic day 10.5. Naturally occurring mutations in this gene, that abolish the SUMO ligase activity, are associated with primordial dwarfism and extreme insulin resistance. [provided by RefSeq, Mar 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": 10, "reported_mutagensis": 5, "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": "Q8N549", "ec_number_list": "2.3.2.-;2.3.2.27", "go_molecular_function": "GO:0061665 SUMO ligase activity;GO:0008270 zinc ion binding;GO:0019789 SUMO transferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016604 nuclear body;GO:0016605 PML body;GO:0000781 chromosome, telomeric region", "go_biological_process": "GO:0032204 regulation of telomere maintenance;GO:0016925 protein sumoylation;GO:0051301 cell division;GO:0045842 positive regulation of mitotic metaphase/anaphase transition;GO:0000724 double-strand break repair via homologous recombination", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "Q96MF7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6NVV3-1", "uniprot_id": "NIPA3_HUMAN", "mass": 44638.0, "length": 410, "protein_name": "Magnesium transporter NIPA3", "gene_name": "NIPAL1", "organism": "Human", "refseq_name": "magnesium transporter NIPA3", "refseq_ac": "NP_997213", "gene_names_uniprotkb": "NIPAL1; NIPA3; NPAL1", "gene_names_refseq": "NIPA3; NIPAL1; NPAL1; SLC57A3", "protein_names_uniprotkb": "Magnesium transporter NIPA3; NIPA-like protein 1; Non-imprinted in Prader-Willi/Angelman syndrome region protein 3", "protein_names_refseq": "NIPA-like protein 1; magnesium transporter NIPA3; non-imprinted in Prader-Willi/Angelman syndrome region protein 3", "tax_id": 9606, "disease": "hereditary spastic paraplegia (Disease Ontology:DOID:2476)", "pathway": " (hsa:152519); (R-HSA-5223345)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "10571941;11237011;11326272;11326338;11401429;12297987;12297989;12951058;13130483;14984739;15804357;17166836;18057121;18347014;1840603;18930737;19262752;1955075;19717468;22119785;22649030;23169667;24725410;24790029;26620797;26635246;26824658;27102039;27899376;29437277;29464350;29557506;31844290;32439805;33332786;34171305;34357683;35051231;36284347;4018271;7615546;7619062;7749638;9114041;9537412", "class_list": "", "function": "Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Fe(2+), Sr(2+), Ba(2+), Mn(2+), Cu(2+) and Co(2+) but to a much less extent than Mg(2+) (By similarity)., [UniProtKB, UniProtKB]; Findings suggest that NIPA like domain containing 1 (NIPAL1) might be a novel factor promoting oral squamous cell carcinoma (OSCC) tumorigenesis, as well as a useful molecular marker of OSCC., [RefSeq, PubMed]; Genome-wide Association Analysis Across 16,956 Patients Identifies a Novel Genetic Association Between BMP6, NIPAL1, CNGA1 and Spondylosis., [RefSeq, PubMed]; Together with previous reports, our findings support the hypothesis that there could be some relationship between gout and magnesium handling via magnesium transporters including NIPAL1., [RefSeq, 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 17, "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": "B3KTB0;Q68DA9", "ec_number_list": "2.7.11.1", "go_molecular_function": "GO:0015095 magnesium ion transmembrane transporter activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0016020 membrane", "go_biological_process": "GO:0015693 magnesium ion transport", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q6NVV3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NPH5-1", "uniprot_id": "NOX4_HUMAN", "mass": 66932.0, "length": 578, "protein_name": "NADPH oxidase 4", "gene_name": "NOX4", "organism": "Human", "refseq_name": "NADPH oxidase 4 isoform e", "refseq_ac": "NP_001278856", "gene_names_uniprotkb": "NOX4; RENOX", "gene_names_refseq": "KOX-1; KOX; NOX4; RENOX", "protein_names_uniprotkb": "NADPH oxidase 4; 1.6.3.1; KOX-1; Kidney oxidase-1; Kidney superoxide-producing NADPH oxidase; Renal NAD(P)H-oxidase", "protein_names_refseq": "NADPH oxidase 4 isoform e; kidney oxidase-1; kidney superoxide-producing NADPH oxidase; renal NAD(P)H-oxidase", "tax_id": 9606, "disease": "metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); hypertension (Disease Ontology:DOID:10763); steatotic liver disease (Disease Ontology:DOID:9452); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:50507); (R-HSA-3299685); (R-HSA-9702518); (R-HSA-9703465)", "pathway_count": 4, "publication_count": 146, "publication_id_list": "10029572;10469654;10514471;10521424;10656833;10698507;10833429;10869423;10919671;10982;11018045;11027663;11032835;11090077;11139407;11237011;11376945;11507097;11518528;11886899;11912930;12446202;12468433;12796379;12829378;14966267;15003515;15044467;15046979;15064408;15155719;15210697;15280035;15317809;15356101;15498859;15572675;15596429;15721269;15927447;16019190;16179589;16230378;16324151;16401067;16615992;16627759;1668270;16684964;16750198;16761019;16880213;17268528;17275676;17356133;17519234;1763037;17707404;17764812;18192505;18358825;18703498;18936159;19219623;19345670;19438505;19542232;1999334;20070187;20111072;20367259;20690882;2071038;21072051;21075166;21215271;21262971;21343298;21385867;21393238;21705501;21967640;22411868;22438257;22493009;22869735;22910329;23103841;23152058;23164639;23168613;23393389;23454490;23455484;24854988;25047527;25062272;26308771;26515730;26716518;26742780;27256702;27666490;27795560;28028030;28228285;28751768;29025582;29507660;29557506;29880609;30370255;30552988;30559310;31066629;31359998;32157095;32488085;3457020;3532102;3619451;3693360;38593505;38663913;38690939;38748682;38943386;39909992;5389100;60;6286671;6961438;7021796;7172448;7487923;807573;8379940;8428933;8452552;8663465;9295278;9369223;9639555;9726962;9918857;9923614", "class_list": "", "function": "Comprehensive bioinformatics analysis of NOX4 as a biomarker for pan-cancer prognosis and immune infiltration., [RefSeq, PubMed]; Deubiquitinating Enzyme USP19 Regulates Ferroptosis and Mitochondrial Damage in SH-SY5Y Cells by Targeting the NOX4 Protein., [RefSeq, PubMed]; Effects of Nox4 upregulation on PECAM-1 expression in a mouse model of diabetic retinopathy. Publication Status: Online-Only, [RefSeq, PubMed]; Lacks superoxide-generating NADPH oxidase activity., [UniProtKB, PubMed]; NADPH oxidase 4-derived hydrogen peroxide counterbalances testosterone-induced endothelial dysfunction and migration., [RefSeq, PubMed]; NADPH oxidase that catalyzes predominantly the reduction of oxygen to H2O2 (PubMed:14966267, PubMed:15356101, PubMed:15927447, PubMed:21343298, PubMed:25062272). Can also catalyze to a smaller extent, the reduction of oxygen to superoxide (PubMed:10869423, PubMed:11032835, PubMed:15155719, PubMed:15572675, PubMed:15927447, PubMed:16019190, PubMed:16179589, PubMed:16230378, PubMed:16324151, PubMed:25062272). May function as an oxygen sensor regulating the KCNK3/TASK-1 potassium channel and HIF1A activity (PubMed:16019190). May regulate insulin signaling cascade (PubMed:14966267). May play a role in apoptosis, bone resorption and lipolysaccharide-mediated activation of NFKB (PubMed:15356101, PubMed:15572675). May produce superoxide in the nucleus and play a role in regulating gene expression upon cell stimulation (PubMed:16324151). Promotes ferroptosis, reactive oxygen species production and reduced glutathione (GSH) levels by activating NLRP3 inflammasome activation and cytokine release (PubMed:39909992)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; NADPH oxidase that catalyzes predominantly the reduction of oxygen to H2O2. Can also catalyze to a smaller extent, the reduction of oxygen to superoxide. May function as an oxygen sensor regulating the KCNK3/TASK-1 potassium channel and HIF1A activity. May regulate insulin signaling cascade. May play a role in apoptosis, bone resorption and lipolysaccharide-mediated activation of NFKB. May produce superoxide in the nucleus and play a role in regulating gene expression upon cell stimulation. Promotes ferroptosis, reactive oxygen species production and reduced glutathione (GSH) levels by activating NLRP3 inflammasome activation and cytokine release., [UniProtKB, UniProtKB]; NADPH oxidase that catalyzes the generation of superoxide from molecular oxygen utilizing NADPH as an electron donor (PubMed:15721269, PubMed:23393389). Involved in redox signaling in vascular cells (PubMed:23393389). Modulates the nuclear activation of ERK1/2 and the ELK1 transcription factor, and is capable of inducing nuclear DNA damage (PubMed:23393389)., [UniProtKB, PubMed, PubMed]; NOX4 regulates gastric cancer cell invasion and proliferation by increasing ferroptosis sensitivity through regulating ROS., [RefSeq, PubMed]; This gene encodes a member of the NOX-family of enzymes that functions as the catalytic subunit the NADPH oxidase complex. The encoded protein is localized to non-phagocytic cells where it acts as an oxygen sensor and catalyzes the reduction of molecular oxygen to various reactive oxygen species (ROS). The ROS generated by this protein have been implicated in numerous biological functions including signal transduction, cell differentiation and tumor cell growth. A pseudogene has been identified on the other arm of chromosome 11. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009]., [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": 11, "reported_glycation": 0, "reported_snv": 27, "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": "A8K715;B7Z520;E7EMD7;Q5K3R4;Q5K3R5;Q5K3R6;Q5K3R8;Q7Z7G3;Q86V92", "ec_number_list": "1.6.3.-;1.14.13.-;1.6.3.1;1.14.13.8;1.-.-.-;1.14.13.225;1.6.99.1;1.11.1.-", "go_molecular_function": "GO:0009055 electron transfer activity;GO:0050660 flavin adenine dinucleotide binding;GO:0000166 nucleotide binding;GO:0020037 heme binding;GO:0016174 NAD(P)H oxidase H2O2-forming activity", "go_cellular_component": "GO:0043020 NADPH oxidase complex;GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005739 mitochondrion;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:1903409 reactive oxygen species biosynthetic process;GO:0006952 defense response;GO:0006954 inflammatory response;GO:0008285 negative regulation of cell population proliferation;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 14.7, "record_id": "Q9NPH5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NJ64-1", "uniprot_id": "NPIB2_HUMAN", "mass": 45575.0, "length": 397, "protein_name": "Nuclear pore complex-interacting protein family member B2", "gene_name": "NPIPB2", "organism": "Human", "refseq_name": "nuclear pore complex-interacting protein family member B2 isoform 3", "refseq_ac": "NP_001383414", "gene_names_uniprotkb": "NPIPB2", "gene_names_refseq": "NPIPB2", "protein_names_uniprotkb": "Nuclear pore complex-interacting protein family member B2", "protein_names_refseq": "nuclear pore complex-interacting protein family member B2 isoform 3; putative NPIP-like protein LOC729978; putative nuclear pore complex-interacting protein family member B2", "tax_id": 9606, "disease": "", "pathway": " (hsa:729978)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;15789617", "class_list": "", "function": "SPLA2-X induces potent arachidonic acid release without activation of cytosolic phospholipase A2 alpha., [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": 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": "A0A0A6YYH2;J3KPX4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A6NJ64-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HC84-1", "uniprot_id": "MUC5B_HUMAN", "mass": 596340.0, "length": 5762, "protein_name": "Mucin-5B", "gene_name": "MUC5B", "organism": "Human", "refseq_name": "mucin-5B precursor", "refseq_ac": "NP_002449", "gene_names_uniprotkb": "MUC5B; MUC5", "gene_names_refseq": "MG1; MUC-5B; MUC5B; MUC5; MUC9", "protein_names_uniprotkb": "Mucin-5B; Cervical mucin; High molecular weight salivary mucin MG1; MUC-5B; Mucin-5 subtype B, tracheobronchial; Sublingual gland mucin", "protein_names_refseq": "cervical mucin MUC5B; high molecular weight salivary mucin MG1; mucin 5, subtype B, tracheobronchial; mucin-5B precursor; sublingual gland mucin", "tax_id": 9606, "disease": "sinusitis (Disease Ontology:DOID:0050127); interstitial lung disease 2 (Disease Ontology:DOID:0060971); otitis media (Disease Ontology:DOID:10754); urinary bladder cancer (Disease Ontology:DOID:11054); cystic fibrosis (Disease Ontology:DOID:1485); asthma (Disease Ontology:DOID:2841); bronchiolitis (Disease Ontology:DOID:2942); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); cholangiocarcinoma (Disease Ontology:DOID:4947); nasopharynx carcinoma (Disease Ontology:DOID:9261)", "pathway": " (hsa:727897); (R-HSA-5083625); (R-HSA-5083632); (R-HSA-5083636); (R-HSA-5621480); (R-HSA-913709); (R-HSA-977068)", "pathway_count": 7, "publication_count": 108, "publication_id_list": "10.1007/s00018-021-03863-1;10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10330415;10430883;10504389;10742600;10753916;11042166;11062056;11110698;11237011;11283017;11304796;11445551;11606584;11713095;11821425;12464682;12750860;12855678;1329093;14656219;14718370;15466199;15486459;15560372;15599692;15620693;15687324;16151858;16251947;16319059;16740002;17050534;17113861;18490740;18537974;18776906;18818202;19617566;21506741;21506748;21880719;22041900;22183981;22461326;23053572;23507963;23584533;23602766;2373995;24643043;25153226;26154972;2656675;26758079;29331515;29557506;29741879;29789417;30524438;30833945;31154438;31222486;31570524;31844290;31848261;32357974;32387766;32938616;33392160;33968037;34087483;34089345;34171305;34185709;35051231;35580925;36010968;36284347;37074911;37340703;38253038;38344913;38462543;39173029;7655172;8333853;8444322;8554565;8598452;8611500;8920913;8972730;9013550;9042338;9147051;9164870;9201995;9295285;9394011;9417100;9435216;9790959;9804771;9915862;9988682", "class_list": "", "function": "Association of MUC5B promoter polymorphism with interstitial lung changes after COVID-19: A preliminary observation., [RefSeq, PubMed]; Gel-forming mucin that is thought to contribute to the lubricating and viscoelastic properties of whole saliva and cervical mucus., [UniProtKB]; Hyposecretion of cervical MUC5B is related to preterm birth in pregnant women after cervical excisional surgery., [RefSeq, PubMed]; Sialylated keratan sulfates on MUC5B are Siglec-8 ligands in the human esophagus., [RefSeq, PubMed]; This gene encodes a member of the mucin family of proteins, which are highly glycosylated macromolecular components of mucus secretions. This family member is the major gel-forming mucin in mucus. It is a major contributor to the lubricating and viscoelastic properties of whole saliva, normal lung mucus and cervical mucus. This gene has been found to be up-regulated in some human diseases, including sinus mucosa of chronic rhinosinusitis (CRS), CRS with nasal polyposis, chronic obstructive pulmonary disease (COPD) and H. pylori-associated gastric disease, and it may be involved in the pathogenesis of these diseases. [provided by RefSeq, Jul 2010]., [RefSeq]", "predicted_glycosites": 99, "predicted_n_glycosites": 14, "predicted_o_glycosites": 78, "predicted_c_glycosites": 7, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 17, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 10, "reported_o_glycosites_with_glycan": 17, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 17, "total_reported_o_glycosites": 17, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 17, "total_o_glycosites": 17, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 7, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 490, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 47, "disease_count": 11, "glyco_site_count": 132, "binding_glycan_count": 0, "secondary_ac_list": "O00447;O00573;O14985;O15494;O95291;O95451;Q14881;Q7M4S5;Q99552;Q9UE28", "ec_number_list": "", "go_molecular_function": "GO:0046872 metal ion binding;GO:0005201 extracellular matrix structural constituent", "go_cellular_component": "GO:0005615 extracellular space;GO:0005796 Golgi lumen;GO:0005886 plasma membrane;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome", "go_biological_process": "GO:1900229 negative regulation of single-species biofilm formation in or on host organism", "synthesized_glycan_count": 0, "hit_score": 19.0, "record_id": "Q9HC84-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60502-1", "uniprot_id": "OGA_HUMAN", "mass": 102915.0, "length": 916, "protein_name": "Protein O-GlcNAcase", "gene_name": "OGA", "organism": "Human", "refseq_name": "protein O-GlcNAcase isoform b", "refseq_ac": "NP_001135906", "gene_names_uniprotkb": "OGA; HEXC; KIAA0679; MEA5; MGEA5", "gene_names_refseq": "MEA5; MGEA5; NCOAT; OGA", "protein_names_uniprotkb": "Protein O-GlcNAcase; 3.2.1.169; Beta-N-acetylglucosaminidase; Beta-N-acetylhexosaminidase; Beta-hexosaminidase; Meningioma-expressed antigen 5; N-acetyl-beta-D-glucosaminidase; N-acetyl-beta-glucosaminidase; NCOAT; Nuclear cytoplasmic O-GlcNAcase and acetyltransferase; OGA", "protein_names_refseq": "N-acetyl-beta-D-glucosaminidase; N-acetyl-beta-glucosaminidase; beta-N-acetylglucosaminidase; beta-N-acetylhexosaminidase; beta-hexosaminidase; bifunctional protein NCOAT; hyaluronidase in meningioma; meningioma expressed antigen 5 (hyaluronidase); meningioma-expressed antigen 5; nuclear cytoplasmic O-GlcNAcase and acetyltransferase; protein O-GlcNAcase isoform b; protein O-GlcNAcase", "tax_id": 9606, "disease": "type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:10724)", "pathway_count": 1, "publication_count": 144, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;11148210;11237011;11341771;11466336;11788610;12359146;15302935;15345747;16434389;16533067;18586680;18669648;18707149;19413330;19415658;19651622;19664994;19690332;20068231;20166139;20673219;20863279;21406692;22028470;22365600;22869377;23186163;23481700;23584533;24088714;24397554;24714562;24715725;24995865;25418920;25576301;25645385;25813380;25892735;26154972;26375851;26811146;26853435;26992070;27543614;27600516;27846572;27862975;27920218;28218747;28228285;28446606;28510447;28742148;28832583;28834231;28904123;28939839;29242379;29331515;29351928;29393594;29437277;29485866;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30059200;30315122;30379171;30410026;30429286;30484775;30524438;30779550;30833945;31154438;31217245;31530632;31844290;31848261;31998317;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34065225;34087483;34135314;34171305;34211107;34405274;34509645;34725712;34932366;35051231;35138101;35254053;35318648;35513511;35561310;35580925;36010968;36124999;36215666;36241641;36284347;37907462;37938771;37962578;38665916;38755129;38838015;38942028;39531497;39534244;40136647;40914422;9811929", "class_list": "glycogene;glycosylhydrolase", "function": "Cleaves GlcNAc but not GalNAc from O-glycosylated proteins (PubMed:11148210, PubMed:11788610, PubMed:20673219, PubMed:22365600, PubMed:24088714, PubMed:28939839, PubMed:37962578). Deglycosylates a large and diverse number of proteins, such as CRYAB, ELK1, GSDMD, LMNB1 and TAB1 (PubMed:28939839, PubMed:37962578). Can use p-nitrophenyl-beta-GlcNAc and 4-methylumbelliferone-GlcNAc as substrates but not p-nitrophenyl-beta-GalNAc or p-nitrophenyl-alpha-GlcNAc (in vitro) (PubMed:20673219). Does not bind acetyl-CoA and does not have histone acetyltransferase activity (PubMed:24088714)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Cleaves GlcNAc but not GalNAc from O-glycosylated proteins. Can use p-nitrophenyl-beta-GlcNAc as substrate but not p-nitrophenyl-beta-GalNAc or p-nitrophenyl-alpha-GlcNAc (in vitro), but has about six times lower specific activity than isoform 1., [UniProtKB, PubMed]; Cryo-EM structure of human O-GlcNAcylation enzyme pair OGT-OGA complex. Publication Status: Online-Only, [RefSeq, PubMed]; E3 ubiquitin ligase UBR5 promotes gemcitabine resistance in pancreatic cancer by inducing O-GlcNAcylation-mediated EMT via destabilization of OGA. Publication Status: Online-Only, [RefSeq, PubMed]; Inhibition of O-GlcNAcase Inhibits Hematopoietic and Leukemic Stem Cell Self-Renewal and Drives Dendritic Cell Differentiation via STAT3/5 Signaling., [RefSeq, PubMed]; Investigated this locus in Pima Indians who have the world's highest prevalence of NIDDM. Concluded that mutations in MGEA5 are unlikely to contribute to NIDDM in this population GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; O-GlcNAcase regulates pluripotency states of human embryonic stem cells., [RefSeq, PubMed]; OGA is associated with deglycosylation of NONO and the KU complex during DNA damage repair. Publication Status: Online-Only, [RefSeq, PubMed]; The dynamic modification of cytoplasmic and nuclear proteins by O-linked N-acetylglucosamine (O-GlcNAc) addition and removal on serine and threonine residues is catalyzed by OGT (MIM 300255), which adds O-GlcNAc, and MGEA5, a glycosidase that removes O-GlcNAc modifications (Gao et al., 2001 [PubMed 11148210]).[supplied by OMIM, Mar 2008]., [RefSeq]; This protein is a cytosolic, neutral, O-GlcNAc specific hexosaminidase termed O-GlcNAcase., [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": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 10, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 10, "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": 2, "reported_phosphosites": 6, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 782, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "B7WPB9;D3DR79;E9PGF9;O75166;Q86WV0;Q8IV98;Q9BVA5;Q9HAR0", "ec_number_list": "3.2.1.169", "go_molecular_function": "GO:0042802 identical protein binding;GO:0004415 hyalurononglucosaminidase activity;GO:0102571 [protein]-3-O-(N-acetyl-D-glucosaminyl)-L-serine/L-threonine O-N-acetyl-alpha-D-glucosaminase activity;GO:0015929 hexosaminidase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0006044 N-acetylglucosamine metabolic process;GO:0006493 protein O-linked glycosylation;GO:0006517 protein deglycosylation;GO:0009100 glycoprotein metabolic process;GO:0006516 glycoprotein catabolic process", "synthesized_glycan_count": 0, "hit_score": 15.8, "record_id": "O60502-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P08559-1", "uniprot_id": "ODPA_HUMAN", "mass": 43296.0, "length": 390, "protein_name": "Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial", "gene_name": "PDHA1", "organism": "Human", "refseq_name": "pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform 1 precursor", "refseq_ac": "NP_000275", "gene_names_uniprotkb": "PDHA1; PHE1A", "gene_names_refseq": "E1alpha; PDHA1; PDHAD; PDHA; PDHCE1A; PHE1A", "protein_names_uniprotkb": "Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial; 1.2.4.1; PDHE1-A type I", "protein_names_refseq": "PDHE1-A type I; pyruvate dehydrogenase (lipoamide) alpha 1; pyruvate dehydrogenase E1 alpha 1 subunit; pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform 1 precursor; pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial; pyruvate dehydrogenase alpha 1; pyruvate dehydrogenase complex, E1-alpha polypeptide 1", "tax_id": 9606, "disease": "disease of metabolism (Disease Ontology:DOID:0014667); pyruvate decarboxylase deficiency (Disease Ontology:DOID:3649); retinal degeneration (Disease Ontology:DOID:8466)", "pathway": " (hsa:5160); (R-HSA-204174); (R-HSA-5362517); (R-HSA-9837999); (R-HSA-9861559)", "pathway_count": 5, "publication_count": 179, "publication_id_list": "10077682;10493790;11237011;11327815;11485553;11486000;11909957;11923310;12198491;12651851;12676647;1293379;1301207;1338114;14623864;14638692;14708897;15302935;1551669;15522782;15855260;15866176;15870080;15946682;16049940;16115876;16497976;17081983;17101804;17297443;17474719;17532339;17544412;17579211;18083107;18088087;18212344;18542081;18669648;18691976;18767875;19081061;1909401;19144697;19341700;19413330;19415658;19608861;19833728;19841671;19850744;20042001;20058876;20068231;20166139;20215566;20884751;21406692;21504868;21998312;22121020;22195962;22262461;2227443;22710082;22871568;22910903;23033978;23146587;23186163;23201127;23481700;23931759;23991366;24315374;24520911;24714562;25104357;25525879;25892735;26504172;26728094;26811146;26848621;26923599;2745444;2748588;27496948;27642048;27846572;27864847;27920218;2828359;28377575;28396416;28832583;28904123;29191787;29301859;29351928;29393594;29557506;29632046;29932645;29970614;30120231;30315122;3034892;30429286;31100640;31327635;31354221;31530632;31695197;3174635;31844290;31848261;32119511;32157095;32265295;32357974;32387766;32502341;32938616;32983136;33022274;33141586;33257573;33336150;33592498;33717175;33912179;33968037;34093574;34171305;3422424;34229054;34357683;34704252;34725712;34943861;35051231;35083852;35315437;35561310;35731579;35870450;36241641;36580660;36629048;37217939;37479690;38665916;40596516;40914422;7499431;7545958;7573035;7623837;7704533;7757088;7782287;7887409;7967473;8032855;8199595;8498846;8504306;8664900;8798399;8844217;9045657;9266390;9395502;9405293;9651365;9671272;9710704;9815194", "class_list": "", "function": "MAPK signalling-induced phosphorylation and subcellular translocation of PDHE1alpha promotes tumour immune evasion., [RefSeq, PubMed]; PDHA1 hyperacetylation-mediated lactate overproduction promotes sepsis-induced acute kidney injury via Fis1 lactylation. Publication Status: Online-Only, [RefSeq, PubMed]; T Cells Mediate Kidney Tubular Injury via Impaired PDHA1 and Autophagy in Type 1 Diabetes., [RefSeq, PubMed]; The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 alpha 1 subunit containing the E1 active site, and plays a key role in the function of the PDH complex. Mutations in this gene are associated with pyruvate dehydrogenase E1-alpha deficiency and X-linked Leigh syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]., [RefSeq]; The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2)., [UniProtKB, UniProtKB]; Together with PDHB forms the heterotetrameric E1 subunit of the pyruvate dehydrogenase (PDH) complex (PubMed:17474719, PubMed:19081061). The PDH complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links cytoplasmic glycolysis and the mitochondrial tricarboxylic acid (TCA) cycle (PubMed:19081061, PubMed:7782287). It contains multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and dihydrolipoamide dehydrogenase (E3) (Probable). The E1 subunit catalyzes both the thiamine pyrophosphate (TPP)-dependent decarboxylation of pyruvate and the reductive acetylation of a lipoyl group covalently linked to the lipoyl-bearing domains of E2 (PubMed:17474719, PubMed:19081061, PubMed:7782287)., [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": 20, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 7, "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": "A5YVE9;B2R5P7;B7Z3T7;B7Z3X5;Q53H41;Q5JPT8;Q9NP12;Q9UBJ8;Q9UBU0;Q9UNG4;Q9UNG5", "ec_number_list": "2.3.3.1;7.1.1.2;3.6.4.10;1.2.1.3;7.1.2.2;4.2.1.2;1.2.4.1;1.8.1.4;2.3.1.-;2.3.1.12;5.6.1.7;2.3.1.37;4.98.1.1;1.1.1.38;2.3.1.9;1.2.1.36;1.7.1.-;1.2.1.28;1.1.1.37;5.3.3.8;1.1.1.42;3.1.2.2;1.1.1.41;2.8.3.5;3.5.3.1;1.2.4.2;1.1.1.30;5.3.3.21;2.7.11.2;2.7.11.-;3.4.21.92;1.1.1.35;6.2.1.-;6.2.1.4;4.2.1.3;2.3.1.41;3.1.3.43;1.3.8.5", "go_molecular_function": "GO:0046872 metal ion binding;GO:0004739 pyruvate dehydrogenase (acetyl-transferring) activity;GO:0016624 oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0045254 pyruvate dehydrogenase complex", "go_biological_process": "GO:0006099 tricarboxylic acid cycle;GO:0006006 glucose metabolic process;GO:0006086 pyruvate decarboxylation to acetyl-CoA", "synthesized_glycan_count": 0, "hit_score": 18.2, "record_id": "P08559-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P51957-1", "uniprot_id": "NEK4_HUMAN", "mass": 94597.0, "length": 841, "protein_name": "Serine/threonine-protein kinase Nek4", "gene_name": "NEK4", "organism": "Human", "refseq_name": "serine/threonine-protein kinase Nek4 isoform 2", "refseq_ac": "NP_001180462", "gene_names_uniprotkb": "NEK4; STK2", "gene_names_refseq": "NEK4; NRK2; STK2; pp12301", "protein_names_uniprotkb": "Serine/threonine-protein kinase Nek4; 2.7.11.1; Never in mitosis A-related kinase 4; NimA-related protein kinase 4; Serine/threonine-protein kinase 2; Serine/threonine-protein kinase NRK2", "protein_names_refseq": "NIMA (never in mitosis gene a)-related kinase 4; never in mitosis A-related kinase 4; nimA-related protein kinase 4; serine/threonine kinase 2; serine/threonine protein kinase-2; serine/threonine-protein kinase NRK2; serine/threonine-protein kinase Nek4 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:6787)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "11237011;17344846;17924679;18669648;19664994;19690332;20103636;21685204;22851694;23186163;24129315;24715725;28411811;28832583;29242379;29508533;29786170;30247800;30620550;31154438;31217245;31743747;31844290;31848261;31998317;32488085;32983136;33537174;33592498;33912179;34185709;35051231;35580925;36010968;38869147;8208544", "class_list": "", "function": "Data show that after Taxol treatment, Nek4 promoted microtubule outgrowth, whereas Nek4 deficiency impaired G(2)-M arrest and decreased formation of mitotic-like asters., [RefSeq, PubMed]; NRK-2 deficiency promotes post-MI scar expansion, rapid LV chamber dilatation, cardiac dysfunction and fibrosis possibly due to increased p38alpha activation., [RefSeq, PubMed]; Nek4 as a novel regulator of replicative senescence and the response to double-stranded DNA damage., [RefSeq, PubMed]; Nek4 interaction with both RPGRIP1 and the RPGRIP1L is involved in cilium assembly., [RefSeq, PubMed]; Protein kinase that seems to act exclusively upon threonine residues (By similarity). Required for normal entry into proliferative arrest after a limited number of cell divisions, also called replicative senescence. Required for normal cell cycle arrest in response to double-stranded DNA damage., [UniProtKB, UniProtKB, PubMed]; The protein encoded by this gene is a serine/threonine protein kinase required for normal entry into replicative senescence. The encoded protein also is involved in cell cycle arrest in response to double-stranded DNA damage. Finally, this protein plays a role in maintaining cilium integrity, and defects in this gene have been associated with ciliopathies. [provided by RefSeq, Jan 2017]., [RefSeq]; This study demonstrates NEK4 as a novel kinase involved in regulation of Epithelial-to-mesenchymal transition., [RefSeq, PubMed]; Unraveling NEK4 as a Potential Drug Target in Schizophrenia and Bipolar I Disorder: A Proteomic and Genomic Approach., [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": 9, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "A5YM70;B2R633;B7Z200;Q6P576", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0030145 manganese ion binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005929 cilium", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0006468 protein phosphorylation;GO:0035556 intracellular signal transduction;GO:0051301 cell division;GO:0006974 DNA damage response", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "P51957-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O76050-1", "uniprot_id": "NEUL1_HUMAN", "mass": 61860.0, "length": 574, "protein_name": "E3 ubiquitin-protein ligase NEURL1", "gene_name": "NEURL1", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase NEURL1", "refseq_ac": "NP_004201", "gene_names_uniprotkb": "NEURL1; NEURL1A; NEURL; RNF67", "gene_names_refseq": "NEUR1; NEURL1; NEURL; RNF67; bA416N2.1; neu-1; neu", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase NEURL1; 2.3.2.27; Neuralized-like protein 1A; RING finger protein 67; RING-type E3 ubiquitin transferase NEURL1; h-neuralized 1; h-neu", "protein_names_refseq": "E3 ubiquitin-protein ligase NEURL1; RING finger protein 67; RING-type E3 ubiquitin transferase NEURL1; h-neuralized 1; neuralized homolog; neuralized-like protein 1A", "tax_id": 9606, "disease": "", "pathway": " (hsa:9148); (R-HSA-2122948); (R-HSA-2644606); (R-HSA-2691232); (R-HSA-2894862); (R-HSA-2979096); (R-HSA-9013507)", "pathway_count": 7, "publication_count": 104, "publication_id_list": "10079256;10206645;10551863;10713164;10879540;10882063;10934472;10958687;10964718;11006133;11044625;11171333;11226752;11237011;11518718;11585928;11740940;11823422;11861489;12050117;12209127;12354787;12391150;12530964;14567914;14980219;15107403;15533827;15546612;15569487;15574878;15652348;15760269;15824097;15829515;15965470;16093323;16284625;16530044;16738328;16773578;17003037;17028573;17114293;17401372;17646408;17646409;18043734;18077452;18237417;18296446;18374649;1840698;18418349;18469519;18628966;18700817;18824583;18824585;19000840;19151708;19208840;19524514;19567869;19726682;20156974;20847082;20972443;21632553;22162134;22658935;22658936;23481700;24715725;24842903;25125655;25356737;29459676;29856954;29856955;31039368;31068605;3153318;33981976;34171305;35051231;37249336;7566092;7588063;803282;8313469;9207787;9207788;9244301;9315665;9384573;9462510;9519875;9590294;9604939;9620803;9651681;9694793;9819428", "class_list": "", "function": "Neuralized family member NEURL1 is a ubiquitin ligase for the cGMP-specific phosphodiesterase 9A. Publication Status: Online-Only, [RefSeq, PubMed]; Neuritin affects the activity of neuralized-like 1 by promoting degradation and weakening its affinity for substrate., [RefSeq, PubMed]; Plays a role in hippocampal-dependent synaptic plasticity, learning and memory. Involved in the formation of spines and functional synaptic contacts by modulating the translational activity of the cytoplasmic polyadenylation element-binding protein CPEB3. Promotes ubiquitination of CPEB3, and hence induces CPEB3-dependent mRNA translation activation of glutamate receptor GRIA1 and GRIA2. Can function as an E3 ubiquitin-protein ligase to activate monoubiquitination of JAG1 (in vitro), thereby regulating the Notch pathway. Acts as a tumor suppressor; inhibits malignant cell transformation of medulloblastoma (MB) cells by inhibiting the Notch signaling pathway., [UniProtKB, PubMed]; Significant allelic and genotypic associations were identified between NEURL variant rs6584555 and GJA1 variant rs13216675 and Atrial fibrillation (AF). Significant genotypic association was found between CUX2 SNP rs6490029 and AF Publication Status: Online-Only, [RefSeq, PubMed]; Study found no association between NEURL1 rs6584555 and increased risk of atrial fibrillation., [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": 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": "Q5TDR2;Q5TDR3;Q8TAN0;Q9H463", "ec_number_list": "2.3.2.27", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity;GO:0045182 translation regulator activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0014069 postsynaptic density;GO:0043197 dendritic spine;GO:0043204 perikaryon;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0007219 Notch signaling pathway;GO:0007399 nervous system development;GO:0008285 negative regulation of cell population proliferation;GO:0043065 positive regulation of apoptotic process;GO:0090129 positive regulation of synapse maturation", "synthesized_glycan_count": 0, "hit_score": 10.5, "record_id": "O76050-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P30414-1", "uniprot_id": "NKTR_HUMAN", "mass": 165677.0, "length": 1462, "protein_name": "NK-tumor recognition protein", "gene_name": "NKTR", "organism": "Human", "refseq_name": "NK-tumor recognition protein isoform a", "refseq_ac": "NP_005376", "gene_names_uniprotkb": "NKTR", "gene_names_refseq": "CypNK; NKTR; p104", "protein_names_uniprotkb": "NK-tumor recognition protein; 5.2.1.8; NK-TR protein; Natural-killer cells cyclophilin-related protein; PPIase; Peptidyl-prolyl cis-trans isomerase NKTR; Rotamase", "protein_names_refseq": "NK-TR protein; NK-tumor recognition protein isoform a; NK-tumor recognition protein; PPIase; natural killer triggering receptor; natural killer-tumor recognition sequence; natural-killer cells cyclophilin-related protein; peptidyl-prolyl cis-trans isomerase NKTR; rotamase", "tax_id": 9606, "disease": "", "pathway": " (hsa:4820)", "pathway_count": 1, "publication_count": 54, "publication_id_list": "11237011;17081983;17525332;18452278;18669648;18767875;19651622;19664994;19664995;20058876;20068231;20676357;21406692;23186163;24275569;25114211;25218447;25755297;25772364;26992070;27846572;28228285;28832583;29242379;29493099;29508533;29557506;30315122;30379171;30429286;30484775;31217245;31844290;32157095;32357974;32488085;32983136;33141586;33298915;33537174;33912179;33981976;34087483;34171305;34561969;34932366;35051231;35318648;35580925;36010968;36241641;36284347;37217939;8421688", "class_list": "", "function": "PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding (PubMed:20676357). Component of a putative tumor-recognition complex involved in the function of NK cells (PubMed:8421688)., [UniProtKB, PubMed, PubMed]; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides., [UniProtKB, UniProtKB]; This gene encodes a membrane-anchored protein with a hydrophobic amino terminal domain and a cyclophilin-like PPIase domain. It is present on the surface of natural killer cells and facilitates their binding to targets. Its expression is regulated by IL2 activation of the 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": 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": 35, "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": 4, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "5.2.1.8", "go_molecular_function": "GO:0016018 cyclosporin A binding;GO:0003755 peptidyl-prolyl cis-trans isomerase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006457 protein folding", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "P30414-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P51398-1", "uniprot_id": "RT29_HUMAN", "mass": 45566.0, "length": 398, "protein_name": "Small ribosomal subunit protein mS29", "gene_name": "DAP3", "organism": "Human", "refseq_name": "small ribosomal subunit protein mS29 isoform 1", "refseq_ac": "NP_001186778", "gene_names_uniprotkb": "DAP3; MRPS29", "gene_names_refseq": "DAP-3; DAP3; MRP-S29; MRPS29; PRLTS7; S29mt; bMRP-10; mS29", "protein_names_uniprotkb": "Small ribosomal subunit protein mS29; 28S ribosomal protein S29, mitochondrial; 3.6.5.-; DAP-3; Death-associated protein 3; Ionizing radiation resistance conferring protein; MRP-S29; S29mt", "protein_names_refseq": "28S ribosomal protein S29, mitochondrial; ionizing radiation resistance conferring protein; mitochondrial 28S ribosomal protein S29; mitochondrial small ribosomal subunit protein mS29; small ribosomal subunit protein mS29 isoform 1", "tax_id": 9606, "disease": "Perrault syndrome 7 (Disease Ontology:DOID:0061073); vertebral hypersegmentation and orofacial anomalies (Disease Ontology:DOID:0070418)", "pathway": " (hsa:7818); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 102, "publication_id_list": "11162496;11237011;11279123;11543634;15358359;17803939;17924679;18227431;18429816;18782833;19103604;19524667;19608861;19716793;20186120;20563667;21907147;22172991;2250005;22898188;23481700;24366607;24715725;24958902;25233460;25418920;25576301;25838379;25892735;26154972;26992070;27029019;27058226;27600516;27846572;28218747;28228285;28510447;28832583;28834231;28855257;28892042;28904123;29242379;29331515;29437277;29557506;29632046;29769354;29786170;30192525;30315122;30410026;30429286;30484775;30833945;31154438;31217245;31530632;31844290;31848261;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33243891;33298915;33392160;33592498;33691108;33717175;33878294;33912179;33936100;33968037;34087483;34171305;34357683;34509645;34561969;34725712;34932366;35051231;35580925;36010968;36215666;36241641;36302763;36382667;36596788;37141370;37938771;38665916;39080251;39701103;40914422;7499268", "class_list": "", "function": "As a component of the mitochondrial small ribosomal subunit, it plays a role in the translation of mitochondrial mRNAs (PubMed:39701103). Involved in mediating interferon-gamma-induced cell death (PubMed:7499268). Displays GTPase activity in vitro (PubMed:39701103)., [UniProtKB, PubMed, PubMed]; DAP3 promotes mitochondrial activity and tumour progression in hepatocellular carcinoma by regulating MT-ND5 expression. Publication Status: Online-Only, [RefSeq, PubMed]; Death associated protein3 (DAP3) and DAP3 binding cell death enhancer1 (DELE1) in human colorectal cancer, and their impacts on clinical outcome and chemoresistance., [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 28S subunit protein that also participates in apoptotic pathways which are initiated by tumor necrosis factor-alpha, Fas ligand, and gamma interferon. This protein potentially binds ATP/GTP and might be a functional partner of the mitoribosomal protein S27. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Pseudogenes corresponding to this gene are found on chromosomes 1q and 2q. [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": 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": 3, "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": "B4DP59;B4DY62;E7EM60;Q13044;Q68CT7;Q96Q20", "ec_number_list": "3.6.5.-;3.6.5.2;3.6.5.3;3.6.5.5;3.6.1.5;7.1.1.9;7.1.1.2;3.6.1.-;3.6.5.4;3.1.1.29;2.7.11.1;3.6.-.-;3.6.1.15;3.6.1.6;3.6.1.42", "go_molecular_function": "GO:0003723 RNA binding;GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005763 mitochondrial small ribosomal subunit;GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005761 mitochondrial ribosome", "go_biological_process": "GO:0097190 apoptotic signaling pathway;GO:0032543 mitochondrial translation;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 10.5, "record_id": "P51398-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96EP9-1", "uniprot_id": "NTCP4_HUMAN", "mass": 46504.0, "length": 437, "protein_name": "Putative sodium/bile acid cotransporter 4", "gene_name": "SLC10A4", "organism": "Human", "refseq_name": "putative sodium/bile acid cotransporter 4", "refseq_ac": "NP_689892", "gene_names_uniprotkb": "SLC10A4", "gene_names_refseq": "P4; SLC10A4", "protein_names_uniprotkb": "Putative sodium/bile acid cotransporter 4; Na(+)/bile acid cotransporter 4; Solute carrier family 10 member 4", "protein_names_refseq": "Na(+)/bile acid cotransporter 4; bile acid transporter SLC10A4; putative sodium/bile acid cotransporter 4; sodium/bile acid cotransporter 4; solute carrier family 10 (sodium/bile acid cotransporter family), member 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:201780)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "17106928;18355966;23589386;23948907;26084360;28228285;30779550;31092671;31154438;31611695;32350084;32387766;32938616;33141586;33392160;33981976;34171305;34509645;35051231;36010968;36241641", "class_list": "", "function": "Depletion of SLC10A4 is observed in the brain with increased severity of Alzheimer's disease-related neuronal degeneration., [RefSeq, PubMed]; No significant bile acid transporter activity could be measured despite its similarity to bile acid:sodium symporters., [UniProtKB, PubMed]; Northern analysis revealed that SLC10A4 mRNA is ubiquitously expressed in human tissues with the highest levels of mRNA expression in brain, placenta, and liver., [RefSeq, PubMed]; SLC10A4 failed to show transport activity for a series of neurotransmitters and neuromodulators, indicating that SLC10A4 does not seem to represent a typical neurotransmitter transporter such as DAT, SERT, CHT1 or VMAT2 Publication Status: Online-Only, [RefSeq, PubMed]; The extracellular N-terminus of SLC10A4 was predicted to be relatively longer at the amino acid level than those of SLC10A1, SLC10A2 and SLC10A6. We examined the relationship between the N-terminus and transport activity of SLC10A4., [RefSeq, PubMed]", "predicted_glycosites": 7, "predicted_n_glycosites": 5, "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": 30, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q8WUZ2", "ec_number_list": "", "go_molecular_function": "GO:0015293 symporter activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0015721 bile acid and bile salt transport;GO:0006814 sodium ion transport", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q96EP9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WV22-1", "uniprot_id": "NSE1_HUMAN", "mass": 30855.0, "length": 266, "protein_name": "Non-structural maintenance of chromosomes element 1 homolog", "gene_name": "NSMCE1", "organism": "Human", "refseq_name": "non-structural maintenance of chromosomes element 1 homolog", "refseq_ac": "NP_659547", "gene_names_uniprotkb": "NSMCE1; HSPC333; HSPC337", "gene_names_refseq": "NSE1; NSMCE1", "protein_names_uniprotkb": "Non-structural maintenance of chromosomes element 1 homolog; 2.3.2.27; Non-SMC element 1 homolog", "protein_names_refseq": "NSE1 homolog, SMC5-SMC6 complex component; non-SMC element 1 homolog; non-structural maintenance of chromosomes element 1 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:197370); (R-HSA-3108214)", "pathway_count": 2, "publication_count": 120, "publication_id_list": "10574707;11237011;11792325;11889051;14701739;15175327;15355988;15608651;15823533;15829507;15940266;15959518;16030353;16478998;16608850;16626738;16688858;16810316;17693435;18086888;18625722;18691969;18708356;19287951;19596686;19622798;19706679;19779455;19956565;20016594;20016603;20190268;20705237;20864041;21098080;21147198;21284855;21364888;21550342;22508508;22635276;22661230;22751501;23186163;23481700;23750026;23871147;24027577;24714562;24715725;24782567;24958902;25114211;25218447;25418920;25576301;25645385;26154972;26375851;26728094;26929215;26992070;27427983;27600516;27846572;27920218;28218747;28228285;28514659;28832583;28904123;29225034;29242379;29437277;29493099;29508533;29557506;29632711;29786170;30315122;30429286;30484775;31530632;31844290;31848261;32157095;32161166;32350084;32389690;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34185709;34357683;34561969;34932366;35051231;35251023;35318648;35580925;36215666;36241641;38847937;9412458;9452416;9756909;9885291", "class_list": "", "function": "Crucial role of the NSE1 RING domain in Smc5/6 stability and FANCM-independent fork progression. Publication Status: Online-Only, [RefSeq, PubMed]; Molecular Insights into the Architecture of the Human SMC5/6 Complex., [RefSeq, PubMed]; RING-type zinc finger-containing E3 ubiquitin ligase that assembles with melanoma antigen protein (MAGE) to catalyze the direct transfer of ubiquitin from E2 ubiquitin-conjugating enzyme to a specific substrate. Involved in maintenance of genome integrity, DNA damage response and DNA repair., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, 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": 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": "D3DWF6;Q9P045;Q9P049", "ec_number_list": "2.3.2.-;2.3.2.27", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0046983 protein dimerization activity;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000775 chromosome, centromeric region;GO:0097431 mitotic spindle pole;GO:0000781 chromosome, telomeric region", "go_biological_process": "GO:0032204 regulation of telomere maintenance;GO:0016925 protein sumoylation;GO:0006974 DNA damage response;GO:0000724 double-strand break repair via homologous recombination;GO:0140588 chromatin looping", "synthesized_glycan_count": 0, "hit_score": 12.1, "record_id": "Q8WV22-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UQ80-1", "uniprot_id": "PA2G4_HUMAN", "mass": 43787.0, "length": 394, "protein_name": "Proliferation-associated protein 2G4", "gene_name": "PA2G4", "organism": "Human", "refseq_name": "proliferation-associated protein 2G4", "refseq_ac": "NP_006182", "gene_names_uniprotkb": "PA2G4; EBP1", "gene_names_refseq": "EBP1; HG4-1; ITAF45; PA2G4; p38-2G4", "protein_names_uniprotkb": "Proliferation-associated protein 2G4; Cell cycle protein p38-2G4 homolog; ErbB3-binding protein 1; hG4-1", "protein_names_refseq": "ErbB-3 binding protein 1; ErbB-3 receptor binding protein; ErbB3-binding protein Ebp1; IRES-specific cellular transacting factor 45; cell cycle protein p38-2G4 homolog; erbB3-binding protein 1; proliferation-associated 2G4, 38kDa; proliferation-associated 2G4, 38kD; proliferation-associated protein 2G4", "tax_id": 9606, "disease": "", "pathway": " (hsa:5036); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 136, "publication_id_list": "10682683;11237011;11268000;11325528;12429849;12682367;15064750;15583694;16832058;16964243;17081983;17322306;17765895;18283314;18578522;18669648;19037095;19413330;19651622;19690332;20068231;20112406;21145366;21406692;21993680;22223895;23186163;23242156;23361053;23481700;23650620;24366607;24714562;24715725;25418920;25576301;25645385;25802875;26154972;26375851;26552660;26728094;26758079;26811146;26853435;26929215;26992070;27090790;27346687;27543614;27846572;27862975;27920218;28063628;28218747;28228285;28446606;28514659;28649982;28832583;28834231;28904123;29242379;29314611;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30379171;30410026;30484775;30524438;30779550;30833945;31020640;31154438;31217245;31222486;31530632;31844290;31848261;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33465208;33592498;33691908;33717175;33912179;33936100;33968037;33981976;34019948;34171305;34509645;34725712;34932366;35008409;35051231;35138101;35251023;35561310;35580925;36010968;36215666;36241641;36284347;36423778;36606322;37938771;38665916;38834613;40596516;40914422;8692836;9345902", "class_list": "", "function": "EBP1 regulates Suv39H1 stability via the ubiquitin-proteasome system in neural development., [RefSeq, PubMed]; LINC00173 facilitates tumor progression by stimulating RAB1B-mediated PA2G4 and SDF4 secretion in nasopharyngeal carcinoma., [RefSeq, PubMed]; Loci on chromosome 12q13.2 encompassing ERBB3, PA2G4 and RAB5B are associated with polycystic ovary syndrome., [RefSeq, PubMed]; May play a role in a ERBB3-regulated signal transduction pathway. Seems be involved in growth regulation. Acts a corepressor of the androgen receptor (AR) and is regulated by the ERBB3 ligand neuregulin-1/heregulin (HRG). Inhibits transcription of some E2F1-regulated promoters, probably by recruiting histone acetylase (HAT) activity. Binds RNA. Associates with 28S, 18S and 5.8S mature rRNAs, several rRNA precursors and probably U3 small nucleolar RNA. May be involved in regulation of intermediate and late steps of rRNA processing. May be involved in ribosome assembly. Mediates cap-independent translation of specific viral IRESs (internal ribosomal entry site) (By similarity). Regulates cell proliferation, differentiation, and survival. Isoform 1 suppresses apoptosis whereas isoform 2 promotes cell differentiation (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Orthogonal proteogenomic analysis identifies the druggable PA2G4-MYC axis in 3q26 AML. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an RNA-binding protein that is involved in growth regulation. This protein is present in pre-ribosomal ribonucleoprotein complexes and may be involved in ribosome assembly and the regulation of intermediate and late steps of rRNA processing. This protein can interact with the cytoplasmic domain of the ErbB3 receptor and may contribute to transducing growth regulatory signals. This protein is also a transcriptional co-repressor of androgen receptor-regulated genes and other cell cycle regulatory genes through its interactions with histone deacetylases. This protein has been implicated in growth inhibition and the induction of differentiation of human cancer cells. Six pseudogenes, located on chromosomes 3, 6, 9, 18, 20 and X, 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": 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": 19, "reported_mutagensis": 6, "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": "O43846;Q9UM59", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003714 transcription corepressor activity;GO:0031625 ubiquitin protein ligase binding;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006417 regulation of translation;GO:0043066 negative regulation of apoptotic process;GO:0045892 negative regulation of DNA-templated transcription;GO:0045597 positive regulation of cell differentiation", "synthesized_glycan_count": 0, "hit_score": 14.0, "record_id": "Q9UQ80-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43913-1", "uniprot_id": "ORC5_HUMAN", "mass": 50283.0, "length": 435, "protein_name": "Origin recognition complex subunit 5", "gene_name": "ORC5", "organism": "Human", "refseq_name": "origin recognition complex subunit 5 isoform 1", "refseq_ac": "NP_002544", "gene_names_uniprotkb": "ORC5; ORC5L", "gene_names_refseq": "ORC5L; ORC5P; ORC5T; ORC5; PPP1R117", "protein_names_uniprotkb": "Origin recognition complex subunit 5", "protein_names_refseq": "origin recognition complex subunit 5 isoform 1; protein phosphatase 1, regulatory subunit 117", "tax_id": 9606, "disease": "", "pathway": " (hsa:5001); (R-HSA-113507); (R-HSA-176187); (R-HSA-68616); (R-HSA-68689); (R-HSA-68867); (R-HSA-68949); (R-HSA-68962)", "pathway_count": 8, "publication_count": 151, "publication_id_list": "10051570;10373362;10373557;10518787;10523313;10757793;10777662;10827953;10846177;10859164;10882098;10884341;11095689;11125146;11237011;11248027;11390642;11562349;11739726;11931757;12045100;12399544;12578958;12676583;12676925;12759351;12791985;12909626;12963847;14500360;14603323;14605214;14624239;14672932;15190204;15226314;15684404;15707391;15707891;15743907;15833913;16327781;16407120;16549788;16762929;16824194;17234884;17485488;17680271;17716973;18480045;19896182;21555516;22398447;22405012;22751019;23187890;23481700;23603117;23795651;23851460;24003239;24715725;25231993;25576301;25645385;25689043;25762138;25784553;25892735;26139588;26154972;26222030;26644179;26992070;27249176;27397612;27600516;27846572;27862975;27920218;28112645;28218747;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29437277;29493099;29557506;29769354;29899147;30315122;30410026;30484775;30779550;30833945;31092671;31154438;31160578;31217245;31844290;32157095;32357974;32387766;32502341;32808929;32848132;32938616;32983136;32989049;33141586;33298899;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33801762;33936100;33968037;34131285;34171305;34185709;34357683;34932366;35051231;35254053;35580925;36010968;36215666;36241641;36284347;36581221;37938771;40596516;40914422;8196638;8943031;9278511;9278512;9417919;9635433;9660782;9765232;9829972", "class_list": "", "function": "A human cancer cell line initiates DNA replication normally in the absence of ORC5 and ORC2 proteins., [RefSeq, PubMed]; Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The specific DNA sequences that define origins of replication have not been identified yet. ORC is required to assemble the pre-replication complex necessary to initiate DNA replication., [UniProtKB, PubMed]; Orc5 associates with the H3 histone acetyl transferase GCN5 (also known as KAT2A), and this association enhances the chromatin-opening function of Orc5., [RefSeq, PubMed]; The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Oct 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": 7, "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": "A4D0P8;O60590;O95268", "ec_number_list": "", "go_molecular_function": "GO:0003688 DNA replication origin binding;GO:0005524 ATP binding;GO:0000166 nucleotide binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0005664 nuclear origin of replication recognition complex;GO:0000781 chromosome, telomeric region", "go_biological_process": "GO:0006260 DNA replication;GO:0006275 regulation of DNA replication;GO:0006270 DNA replication initiation", "synthesized_glycan_count": 0, "hit_score": 15.4, "record_id": "O43913-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P11177-1", "uniprot_id": "ODPB_HUMAN", "mass": 39233.0, "length": 359, "protein_name": "Pyruvate dehydrogenase E1 component subunit beta, mitochondrial", "gene_name": "PDHB", "organism": "Human", "refseq_name": "pyruvate dehydrogenase E1 component subunit beta, mitochondrial isoform 1 precursor", "refseq_ac": "NP_000916", "gene_names_uniprotkb": "PDHB; PHE1B", "gene_names_refseq": "E1beta; PDHBD; PDHB; PDHE1-B; PDHE1B; PHE1B", "protein_names_uniprotkb": "Pyruvate dehydrogenase E1 component subunit beta, mitochondrial; 1.2.4.1; PDHE1-B", "protein_names_refseq": "epididymis secretory sperm binding protein; pyruvate dehydrogenase (lipoamide) beta; pyruvate dehydrogenase E1 beta subunit; pyruvate dehydrogenase E1 component subunit beta, mitochondrial isoform 1 precursor; pyruvate dehydrogenase E1 component subunit beta, mitochondrial; pyruvate dehydrogenase, E1 beta polypeptide", "tax_id": 9606, "disease": "pyruvate decarboxylase deficiency (Disease Ontology:DOID:3649)", "pathway": " (hsa:5162); (R-HSA-204174); (R-HSA-5362517); (R-HSA-9837999); (R-HSA-9861559)", "pathway_count": 5, "publication_count": 124, "publication_id_list": "10493790;11230166;11237011;11327815;11485553;11486000;11909957;11923310;12198491;12651851;14623864;14638692;15138885;15522782;15855260;15866176;15870080;15946682;16049940;16115876;1702713;17101804;17297443;17474719;17532339;17544412;17579211;18542081;19081061;19144697;19833728;19841671;19850744;20042001;20160912;20215566;20884751;21504868;21998312;22262461;22710082;22871568;2295468;23201127;2323578;2376596;2377599;23931759;23991366;24315374;24520911;25367160;25525879;26504172;26923599;27452731;27496948;27642048;28228285;2829898;28377575;28396416;28467828;29242379;29301859;29351928;29557506;29769354;29932645;29970614;30120231;30315122;30484775;30532555;30573663;31092671;31327635;31695197;3174635;31844290;31848261;32119511;32157095;32897882;32938616;33043033;33257573;33298915;33691108;33717175;33912179;33968037;34171305;3422424;34229054;34357683;34509645;34704252;34725712;34943861;35051231;35870450;36010968;36215666;36241641;36564038;36629048;37217939;37350959;38665916;39302247;40596516;40914422;7499431;7623837;7704533;7895732;8798399;9045657;9395502;9405293;9651365;9710704;9815194", "class_list": "", "function": "Integrated single-cell and bulk characterization of cuproptosis key regulator PDHB and association with tumor microenvironment infiltration in clear cell renal cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Pyruvate dehydrogenase B regulates myogenic differentiation via the FoxP1-Arih2 axis., [RefSeq, PubMed]; The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and carbon dioxide, and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 beta subunit. Mutations in this gene are associated with pyruvate dehydrogenase E1-beta deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2012]., [RefSeq]; The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO2., [UniProtKB, UniProtKB, UniProtKB]; Together with PDHA1 forms the heterotetrameric E1 subunit of the pyruvate dehydrogenase (PDH) complex. The PDH complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links cytoplasmic glycolysis and the mitochondrial tricarboxylic acid (TCA) cycle. It contains multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and dihydrolipoamide dehydrogenase (E3). The E1 subunit catalyzes both the thiamine pyrophosphate (TPP)-dependent decarboxylation of pyruvate and the reductive acetylation of a lipoyl group covalently linked to the lipoyl-bearing domains of E2., [UniProtKB, UniProtKB, UniProtKB, 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": 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": 10, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "predictive", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2R7L0;B4DDD7;Q6FH45;Q9BQ27;Q9UFK3", "ec_number_list": "2.3.3.1;7.1.1.2;3.6.4.10;1.4.1.3;1.2.1.3;6.4.1.3;7.1.2.2;4.2.1.2;1.2.4.1;1.8.1.4;2.3.1.-;2.3.1.12;5.6.1.7;2.3.1.168;2.3.1.37;4.98.1.1;1.1.1.38;2.3.1.9;1.2.1.36;1.7.1.-;1.2.1.28;3.4.21.53;1.1.1.37;5.3.3.8;1.3.8.1;1.3.8.5;1.1.1.42;3.1.2.2;1.1.1.41;2.3.3.10;2.8.3.5;3.5.3.1;1.2.4.2;1.1.1.30;5.3.3.21;2.7.11.2;2.7.11.-;3.4.21.92;1.1.1.35;2.7.1.23;6.2.1.-;6.2.1.4;5.6.2.3;1.1.1.62;1.1.1.239;1.1.1.178;1.1.1.53;1.1.1.159;4.2.1.3;6.1.1.5;2.3.1.41;3.1.3.43", "go_molecular_function": "GO:0046872 metal ion binding;GO:0004739 pyruvate dehydrogenase (acetyl-transferring) activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0045254 pyruvate dehydrogenase complex", "go_biological_process": "GO:0006099 tricarboxylic acid cycle;GO:0006006 glucose metabolic process;GO:0006086 pyruvate decarboxylation to acetyl-CoA", "synthesized_glycan_count": 0, "hit_score": 12.8, "record_id": "P11177-1", "record_type": "protein" } ]