[ { "uniprot_canonical_ac": "O76074-1", "uniprot_id": [ { "id": "PDE5A_HUMAN", "url": "https://www.uniprot.org/uniprot/O76074", "type": "external" } ], "mass": 99985.0, "length": 875, "protein_name": "cGMP-specific 3',5'-cyclic phosphodiesterase", "gene_name": "PDE5A", "organism": "Human", "refseq_name": "cGMP-specific 3',5'-cyclic phosphodiesterase isoform 1", "refseq_ac": [ { "id": "NP_001074", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074", "type": "external" } ], "gene_names_uniprotkb": "PDE5A; PDE5", "gene_names_refseq": "CGB-PDE; CN5A; PDE5A; PDE5", "protein_names_uniprotkb": "cGMP-specific 3',5'-cyclic phosphodiesterase; 3.1.4.35; CGB-PDE; cGMP-binding cGMP-specific phosphodiesterase", "protein_names_refseq": "cGMP-binding cGMP-specific 3',5'-cyclic nucleotide phosphodiesterase; cGMP-specific 3',5'-cyclic phosphodiesterase isoform 1; cGMP-specific phosphodiesterase PDE5A2; cGMP-specific phosphodiesterase type 5A; phosphodiesterase 5A, cGMP-specific; phosphodiesterase isozyme 5", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); pre-eclampsia (Disease Ontology:DOID:10591); primary biliary cholangitis (Disease Ontology:DOID:12236); impotence (Disease Ontology:DOID:1875); IgA glomerulonephritis (Disease Ontology:DOID:2986); vasculogenic impotence (Disease Ontology:DOID:4762); myocardial infarction (Disease Ontology:DOID:5844); pulmonary hypertension (Disease Ontology:DOID:6432)", "pathway": " (hsa:8654); (R-HSA-418457); (R-HSA-445355); (R-HSA-9013422)", "pathway_count": 4, "publication_count": 78, "publication_id_list": "10393044;10991994;11237011;11242081;11457814;11532985;11723116;11889009;12048254;12955149;14506282;14627618;15260978;15377279;156362;16690614;16990611;17055381;18835386;18974361;1930128;19380584;2168396;22421042;22778174;23834404;24608665;24872348;2526655;25576301;25799991;25892735;26093192;26154972;26362469;27314390;27462268;2764880;27679490;28741090;28832583;29242379;29393594;29493099;29557506;29769354;30524438;30896450;31154438;31431478;31844290;31848261;31871319;32157095;32938616;32983136;33141586;33392160;33592498;34171305;34185709;35051231;35580925;35955722;36581221;36730555;3780718;38658954;38665916;8557689;8858389;9481611;9598563;9600334;9642111;9714779;9716380;9855623", "class_list": "", "function": "Cellular Redox Metabolism Is Modulated by the Distinct Localization of Cyclic Nucleotide Phosphodiesterase 5A Isoforms. Publication Status: Online-Only, [RefSeq, PubMed]; CircPDE5A-encoded novel regulator of the PI3K/AKT pathway inhibits esophageal squamous cell carcinoma progression by promoting USP14-mediated de-ubiquitination of PIK3IP1. Publication Status: Online-Only, [RefSeq, PubMed]; LncRNA ARAP1-AS1 targets miR-516b-5p/PDE5A axis to facilitate the progression of thyroid cancer., [RefSeq, PubMed]; Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. This phosphodiesterase catalyzes the specific hydrolysis of cGMP to 5'-GMP (PubMed:15489334, PubMed:9714779). Specifically regulates nitric-oxide-generated cGMP (PubMed:15489334)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; This gene encodes a cGMP-binding, cGMP-specific phosphodiesterase, a member of the cyclic nucleotide phosphodiesterase family. This phosphodiesterase specifically hydrolyzes cGMP to 5'-GMP. It is involved in the regulation of intracellular concentrations of cyclic nucleotides and is important for smooth muscle relaxation in the cardiovascular system. Alternative splicing of this gene results in three transcript variants encoding distinct 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": 3, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 22, "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": "A0AV69;A8K2C4;O75026;O75887;Q86UI0;Q86V66;Q9Y6Z6", "ec_number_list": [ { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.1.4.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.17", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.4.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.35", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.6.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.25", "type": "external" }, { "id": "3.6.1.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.14", "type": "external" }, { "id": "3.1.4.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.53", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0030553 cGMP binding;GO:0047555 3',5'-cyclic-GMP phosphodiesterase activity;GO:0004114 3',5'-cyclic-nucleotide phosphodiesterase activity;GO:0004115 3',5'-cyclic-AMP phosphodiesterase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0007165 signal transduction;GO:0046069 cGMP catabolic process;GO:0141162 negative regulation of cAMP/PKA signal transduction", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "O76074-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NJB7-1", "uniprot_id": [ { "id": "PRR19_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NJB7", "type": "external" } ], "mass": 38716.0, "length": 356, "protein_name": "Proline-rich protein 19", "gene_name": "PRR19", "organism": "Human", "refseq_name": "proline-rich protein 19", "refseq_ac": [ { "id": "NP_954979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_954979", "type": "external" } ], "gene_names_uniprotkb": "PRR19", "gene_names_refseq": "PRR19", "protein_names_uniprotkb": "Proline-rich protein 19", "protein_names_refseq": "proline-rich protein 19", "tax_id": 9606, "disease": "", "pathway": " (hsa:284338)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;35051231", "class_list": "", "function": "Promotes meiotic crossing over formation through its interaction with CNTD1 by participating in the crossover differentiation step of crossover-specific recombination intermediates., [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": 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": "A8K663;B3KW48;Q6P584", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005694 chromosome", "go_biological_process": "GO:0051321 meiotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A6NJB7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BYW2-1", "uniprot_id": [ { "id": "SETD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BYW2", "type": "external" } ], "mass": 287597.0, "length": 2564, "protein_name": "Histone-lysine N-methyltransferase SETD2", "gene_name": "SETD2", "organism": "Human", "refseq_name": "histone-lysine N-methyltransferase SETD2 isoform 1", "refseq_ac": [ { "id": "NP_054878", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054878", "type": "external" } ], "gene_names_uniprotkb": "SETD2; HIF1; HSPC069; HYPB; KIAA1732; KMT3A; SET2", "gene_names_refseq": "HBP231; HIF-1; HIP-1; HSPC069; HYPB; KMT3A; LLS; MRD70; RAPAS; SET2; SETD2; p231HBP", "protein_names_uniprotkb": "Histone-lysine N-methyltransferase SETD2; 2.1.1.-; 2.1.1.359; HIF-1; HIP-1; Huntingtin yeast partner B; Huntingtin-interacting protein 1; Huntingtin-interacting protein B; Lysine N-methyltransferase 3A; Protein-lysine N-methyltransferase SETD2; SET domain-containing protein 2; hSET2; p231HBP", "protein_names_refseq": "histone-lysine N-methyltransferase SETD2 isoform 1; histone-lysine N-methyltransferase SETD2; huntingtin interacting protein 1; huntingtin yeast partner B; huntingtin-interacting protein B; lysine N-methyltransferase 3A; protein-lysine N-methyltransferase SETD2", "tax_id": 9606, "disease": "idiopathic pulmonary fibrosis (Disease Ontology:DOID:0050156); nonpapillary renal cell carcinoma (Disease Ontology:DOID:0050387); autosomal dominant intellectual developmental disorder 70 (Disease Ontology:DOID:0061043); stomach cancer (Disease Ontology:DOID:10534); cancer (Disease Ontology:DOID:162); malignant mesothelioma (Disease Ontology:DOID:1790); liver cancer (Disease Ontology:DOID:3571); lung adenocarcinoma (Disease Ontology:DOID:3910); clear cell renal cell carcinoma (Disease Ontology:DOID:4467); malignant pleural mesothelioma (Disease Ontology:DOID:7474); acute myeloid leukemia (Disease Ontology:DOID:9119); gastrointestinal stromal tumor (Disease Ontology:DOID:9253); colorectal cancer (Disease Ontology:DOID:9256); acute lymphoblastic leukemia (Disease Ontology:DOID:9952); Luscan-Lumish syndrome (MONDO:MONDO:0014791); Rabin-Pappas syndrome (MONDO:MONDO:0859331)", "pathway": " (hsa:29072); (R-HSA-3214841)", "pathway_count": 2, "publication_count": 161, "publication_id_list": "10949293;10958656;11237011;11461154;11959841;12123582;12130538;12453418;12540855;12670868;14536086;14690610;14992727;15145825;15235609;15964846;16118227;16199523;16292313;16314571;16519522;16682010;16805913;17021013;17081983;17500065;17544230;17707229;18172012;18220336;18452278;18585004;18669648;18767875;19141475;19332550;19413330;19651622;19664994;19664995;19690332;19808676;20054297;20068231;21131967;21196496;21406692;21526191;21779408;21792193;21832073;22099308;22939622;23043551;23160955;23186163;23301498;23325844;23481700;23622243;23792563;24275569;24509477;24662245;24714562;24715725;24843002;24852293;25418920;25505266;25576301;25645385;25728682;25755297;26024233;26084711;26154972;26375851;26637798;26728094;26992070;27317772;27474439;27518565;27600516;27846572;27920218;28063628;28218747;28228285;28256625;28411811;28514659;28649982;28753426;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30379171;30410026;30429286;30524438;30784271;30833945;31092671;31154438;31217245;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32502341;32710489;32897882;32938616;32983136;33141586;33298915;33592498;33633747;33691108;33717175;33912179;33936100;33968037;34087483;34171305;34211107;34561969;34932366;35051231;35154160;35561310;35580925;36010968;36215666;36284347;36537238;37217939;37938771;37962020;37976977;38359295;38843391;38859694;39302247;40136647;9700202", "class_list": "", "function": "(Microbial infection) Recruited to the promoters of adenovirus 12 E1A gene in case of infection, possibly leading to regulate its expression., [UniProtKB, PubMed]; HYPB HMTase may coordinate histone methylation and transcriptional regulation in mammals GeneRIF: HYPB protein is a histone H3 lysine 36-specific methyltransferase that associates with hyperphosphorylated RNA polymerase II., [RefSeq, PubMed]; Histone methyltransferase that specifically trimethylates 'Lys-36' of histone H3 (H3K36me3) using dimethylated 'Lys-36' (H3K36me2) as substrate (PubMed:16118227, PubMed:19141475, PubMed:21526191, PubMed:21792193, PubMed:23043551, PubMed:27474439). It is capable of trimethylating unmethylated H3K36 (H3K36me0) in vitro (PubMed:19332550). Represents the main enzyme generating H3K36me3, a specific tag for epigenetic transcriptional activation (By similarity). Plays a role in chromatin structure modulation during elongation by coordinating recruitment of the FACT complex and by interacting with hyperphosphorylated POLR2A (PubMed:23325844). Acts as a key regulator of DNA mismatch repair in G1 and early S phase by generating H3K36me3, a mark required to recruit MSH6 subunit of the MutS alpha complex: early recruitment of the MutS alpha complex to chromatin to be replicated allows a quick identification of mismatch DNA to initiate the mismatch repair reaction (PubMed:23622243). Required for DNA double-strand break repair in response to DNA damage: acts by mediating formation of H3K36me3, promoting recruitment of RAD51 and DNA repair via homologous recombination (HR) (PubMed:24843002). Acts as a tumor suppressor (PubMed:24509477). H3K36me3 also plays an essential role in the maintenance of a heterochromatic state, by recruiting DNA methyltransferase DNMT3A (PubMed:27317772). H3K36me3 is also enhanced in intron-containing genes, suggesting that SETD2 recruitment is enhanced by splicing and that splicing is coupled to recruitment of elongating RNA polymerase (PubMed:21792193). Required during angiogenesis (By similarity). Required for endoderm development by promoting embryonic stem cell differentiation toward endoderm: acts by mediating formation of H3K36me3 in distal promoter regions of FGFR3, leading to regulate transcription initiation of FGFR3 (By similarity). In addition to histones, also mediates methylation of other proteins, such as tubulins and STAT1 (PubMed:27518565, PubMed:28753426). Trimethylates 'Lys-40' of alpha-tubulins such as TUBA1B (alpha-TubK40me3); alpha-TubK40me3 is required for normal mitosis and cytokinesis and may be a specific tag in cytoskeletal remodeling (PubMed:27518565). Involved in interferon-alpha-induced antiviral defense by mediating both monomethylation of STAT1 at 'Lys-525' and catalyzing H3K36me3 on promoters of some interferon-stimulated genes (ISGs) to activate gene transcription (PubMed:28753426)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein belonging to a class of huntingtin interacting proteins characterized by WW motifs. This protein is a histone methyltransferase that is specific for lysine-36 of histone H3, and methylation of this residue is associated with active chromatin. This protein also contains a novel transcriptional activation domain and has been found associated with hyperphosphorylated RNA polymerase II. [provided by RefSeq, Aug 2008]., [RefSeq]; Loss of SETD2 aggravates colorectal cancer progression caused by SMAD4 deletion through the RAS/ERK signalling pathway., [RefSeq, PubMed]; Methyltransferase Setd2 prevents T cell-mediated autoimmune diseases via phospholipid remodeling., [RefSeq, PubMed]; Morphological characteristics of SETD2-mutated locally advanced clear cell renal cell carcinoma: Comparison with BAP1-mutated clear cell renal cell carcinoma., [RefSeq, PubMed]; Prognostic and therapeutic roles of SETD2 in cutaneous melanoma., [RefSeq, PubMed]; Regulation of SETD2 maintains immune regulatory function in macrophages to suppress airway allergy., [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": 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": 40, "reported_mutagensis": 31, "reported_glycation": 0, "reported_snv": 244, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 16, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "O75397;O75405;Q17RW8;Q5BKS9;Q5QGN2;Q69YI5;Q6IN64;Q6ZN53;Q6ZS25;Q8N3R0;Q8TCN0;Q9C0D1;Q9H696;Q9NZW9", "ec_number_list": [ { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "2.1.1.359", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.359", "type": "external" }, { "id": "2.1.1.372", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.372", "type": "external" }, { "id": "2.1.1.364", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.364", "type": "external" }, { "id": "2.1.1.367", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.367", "type": "external" }, { "id": "2.1.1.361", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.361", "type": "external" }, { "id": "2.1.1.355", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.355", "type": "external" }, { "id": "2.1.1.354", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.354", "type": "external" }, { "id": "2.1.1.362", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.362", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0043014 alpha-tubulin binding;GO:0046975 histone H3K36 methyltransferase activity;GO:0016279 protein-lysine N-methyltransferase activity;GO:0140938 histone H3 methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005694 chromosome", "go_biological_process": "GO:0043279 response to alkaloid;GO:0032727 positive regulation of interferon-alpha production;GO:0034728 nucleosome organization;GO:1902850 microtubule cytoskeleton organization involved in mitosis;GO:1905634 regulation of protein localization to chromatin", "synthesized_glycan_count": 0, "hit_score": 16.7, "record_id": "Q9BYW2-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14103-1", "uniprot_id": [ { "id": "HNRPD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14103", "type": "external" } ], "mass": 38434.0, "length": 355, "protein_name": "Heterogeneous nuclear ribonucleoprotein D0", "gene_name": "HNRNPD", "organism": "Human", "refseq_name": "heterogeneous nuclear ribonucleoprotein D0 isoform d", "refseq_ac": [ { "id": "NP_001003810", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003810", "type": "external" } ], "gene_names_uniprotkb": "HNRNPD; AUF1; HNRPD", "gene_names_refseq": "AUF1A; AUF1; HNRNPD; HNRPD; P37; hnRNPD0", "protein_names_uniprotkb": "Heterogeneous nuclear ribonucleoprotein D0; AU-rich element RNA-binding protein 1; hnRNP D0", "protein_names_refseq": "ARE-binding protein AUFI, type A; AU-rich RNA-binding factor 1; AU-rich element RNA binding protein 1, 37kDa; heterogeneous nuclear ribonucleoprotein D0 isoform d; heterogeneous nuclear ribonucleoprotein D0; hnRNP D0", "tax_id": 9606, "disease": "uremia (Disease Ontology:DOID:4676); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:3184); (R-HSA-72163); (R-HSA-72203); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 5, "publication_count": 244, "publication_id_list": "10.1101/2023.09.13.557529;10024518;10080887;10669729;10882114;11014198;11051545;11060040;11101529;11233976;11237011;11747608;11903055;11991638;12176931;12411573;12414731;12477934;12674497;12819194;12819195;1433497;14519844;14625303;14654843;14713954;14749727;14762106;15037765;15084397;15565158;15659558;15782174;16314458;16408927;16809785;17081983;17095540;17128255;17287340;17289661;17332742;17606899;18212344;18288197;18318008;18322460;18452278;18593880;18669648;18691976;19103666;19165350;19217410;19367720;19413330;19415658;19536130;19608861;19651622;19664994;19664995;19690332;20068230;20068231;20166139;20305658;20423332;20695905;20980672;21295486;21406692;21515746;21536652;2176635;21911577;22110043;22121020;22365833;22813749;22959432;22961380;23186163;23222130;23236153;23345524;23481700;23874216;24076191;24129315;24149845;24196718;24275569;24304693;24316715;24366607;24407421;24423872;24448447;24714562;24737827;24914973;24981863;25114211;25301780;25301781;25555158;25576301;2558966;25892735;26092250;26154972;26375851;26385511;26420826;26728094;26758079;26853435;26969736;26992070;27108190;27377154;27397612;27459055;27683217;27846572;28062851;28076346;28096519;28218747;28228285;28502770;28510447;28514659;28649982;28781166;28832583;28834231;28904123;28911096;29186539;29242379;29274231;29301961;29331515;29360106;29361316;29393594;29437277;29493099;29508533;29557506;29632711;2963332;29769354;29786170;29902443;30139799;30257008;30315122;30315277;30410026;30429286;30599162;30705154;30728453;30765414;30833945;30975767;31154438;31217245;31409651;31611695;31844290;31848261;32119511;32157095;32179686;32329775;32350084;32488085;32494006;32502341;32816001;32897882;32938616;32983136;33123756;33177556;33214551;33243851;33392160;33446560;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34301950;34433824;34725712;34822310;35051231;35083852;35177536;35215846;35251023;35385551;35580925;36010968;36215666;36284347;37060820;37483631;3754960;3757028;37589744;37938771;38423246;38665916;39180763;40914422;7673195;8321232;8352591;8566756;8608946;9016565;9242493;9409616;9512519;9521873;9524131;9539711;9615222;9659921;9671485;9701291;9731529", "class_list": "", "function": "AUF1 promotes hepatocellular carcinoma progression and chemo-resistance by post-transcriptionally upregulating alpha-fetoprotein expression., [RefSeq, PubMed]; AUF1-induced circular RNA hsa_circ_0010467 promotes platinum resistance of ovarian cancer through miR-637/LIF/STAT3 axis. Publication Status: Online-Only, [RefSeq, PubMed]; Binds with high affinity to RNA molecules that contain AU-rich elements (AREs) found within the 3'-UTR of many proto-oncogenes and cytokine mRNAs. Also binds to double- and single-stranded DNA sequences in a specific manner and functions a transcription factor. Each of the RNA-binding domains specifically can bind solely to a single-stranded non-monotonous 5'-UUAG-3' sequence and also weaker to the single-stranded 5'-TTAGGG-3' telomeric DNA repeat. Binds RNA oligonucleotides with 5'-UUAGGG-3' repeats more tightly than the telomeric single-stranded DNA 5'-TTAGGG-3' repeats. Binding of RRM1 to DNA inhibits the formation of DNA quadruplex structure which may play a role in telomere elongation. May be involved in translationally coupled mRNA turnover. Implicated with other RNA-binding proteins in the cytoplasmic deadenylation/translational and decay interplay of the FOS mRNA mediated by the major coding-region determinant of instability (mCRD) domain. May play a role in the regulation of the rhythmic expression of circadian clock core genes. Directly binds to the 3'UTR of CRY1 mRNA and induces CRY1 rhythmic translation. May also be involved in the regulation of PER2 translation., [UniProtKB, PubMed, PubMed, PubMed]; CircUBE3A(2,3,4,5) promotes adenylate-uridylate-rich binding factor 1 nuclear translocation to suppress prostate cancer metastasis., [RefSeq, PubMed]; Expression of targets of the RNA-binding protein AUF-1 in human airway epithelium indicates its role in cellular senescence and inflammation. Publication Status: Online-Only, [RefSeq, PubMed]; HNRNPD regulates the biogenesis of circRNAs and the ratio of mRNAs to circRNAs for a set of genes., [RefSeq, PubMed]; This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are nucleic acid binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind to RNAs. It localizes to both the nucleus and the cytoplasm. This protein is implicated in the regulation of mRNA stability. Alternative splicing of this gene results in four transcript variants. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "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": "A8K9J2;P07029;Q01858;Q14100;Q14101;Q14102;Q4W5A1;Q9UCE8;Q9UCE9", "ec_number_list": [], "go_molecular_function": "GO:0003680 minor groove of adenine-thymine-rich DNA binding;GO:0003682 chromatin binding;GO:0003723 RNA binding;GO:0042826 histone deacetylase binding;GO:0042162 telomeric DNA binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0014069 postsynaptic density", "go_biological_process": "GO:0070934 CRD-mediated mRNA stabilization;GO:2000767 positive regulation of cytoplasmic translation;GO:1904383 response to sodium phosphate;GO:0001889 liver development;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 24.9, "record_id": "Q14103-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P43243-1", "uniprot_id": [ { "id": "MATR3_HUMAN", "url": "https://www.uniprot.org/uniprot/P43243", "type": "external" } ], "mass": 94623.0, "length": 847, "protein_name": "Matrin-3", "gene_name": "MATR3", "organism": "Human", "refseq_name": "matrin-3 isoform a", "refseq_ac": [ { "id": "NP_001181883", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001181883", "type": "external" } ], "gene_names_uniprotkb": "MATR3; KIAA0723", "gene_names_refseq": "ALS21; MATR3; MPD2; VCPDM", "protein_names_uniprotkb": "Matrin-3", "protein_names_refseq": "matrin-3 isoform a; vocal cord and pharyngeal weakness with distal myopathy", "tax_id": 9606, "disease": "amyotrophic lateral sclerosis type 21 (Disease Ontology:DOID:0060212)", "pathway": " (hsa:9782)", "pathway_count": 1, "publication_count": 167, "publication_id_list": "10931946;11237011;11525732;15302935;17081983;17287340;17322306;17924679;17932509;18212344;18220336;18318008;18452278;18510355;18669648;18691976;18707149;18991276;19131338;19344878;19367720;19608861;19651622;19664995;19690332;20058876;20068231;20166139;20230923;2033075;21406692;21858232;22121020;22967762;23186163;23481700;24029068;24275569;24686783;24714562;24715725;25154462;25218447;25418920;25469497;25576301;25645385;25755297;25771394;25772364;25802875;25880248;25892735;26154972;26199109;26768311;26811146;26853435;26929215;26992070;27397612;27600516;27655845;27731383;27846572;27862975;27920218;28218747;28228285;28431233;28510447;28649982;28657654;28712728;28832583;28834231;28855257;28904123;29242379;29331515;29351928;29393594;29437277;29476152;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30397120;30410026;30429286;30444036;30484775;30524438;30779550;31154438;31217245;31222486;31373491;31530632;31844290;31848261;31998317;32119511;32157095;32161166;32245947;32265295;32350084;32357974;32387766;32488085;32502341;32870666;32897882;32938616;32938750;32983136;33214551;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33968037;33981976;34019948;34087483;34171305;34185709;34357683;34405274;34509645;34725712;34932366;35051231;35083852;35154160;35251023;35254053;35289036;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37217939;37340703;37938771;38665916;38813817;39531497;39534244;40307207;40596516;40914422;9837826", "class_list": "", "function": "Data suggest that the cellular level of MATR3, known to be highly regulated, modulates the stability of a group of gene transcripts., [RefSeq, PubMed]; May play a role in transcription or may interact with other nuclear matrix proteins to form the internal fibrogranular network. In association with the SFPQ-NONO heteromer may play a role in nuclear retention of defective RNAs. Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway (PubMed:28712728). Binds to N6-methyladenosine (m6A)-containing mRNAs and contributes to MYC stability by binding to m6A-containing MYC mRNAs (PubMed:32245947). May bind to specific miRNA hairpins (PubMed:28431233)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Nonconservative S85C missense mutation in vocal cord and pharyngeal weakness with distal myopathy, [RefSeq, PubMed]; The role of Matrin-3 in physiology and its dysregulation in disease. Review article, [RefSeq, PubMed]; This gene encodes a nuclear matrix protein, which is proposed to stabilize certain messenger RNA species. Mutations of this gene are associated with distal myopathy 2, which often includes vocal cord and pharyngeal weakness. Alternatively spliced transcript variants, including read-through transcripts composed of the upstream small nucleolar RNA host gene 4 (non-protein coding) and matrin 3 gene sequence, have been identified. Pseudogenes of this gene are located on chromosomes 1 and X. [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": 13, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 13, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 13, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 53, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "B7ZAV5;D3DQC3;Q9UHW0;Q9UQ27", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0005198 structural molecule activity;GO:0035198 miRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0016020 membrane;GO:0016363 nuclear matrix;GO:0005637 nuclear inner membrane", "go_biological_process": "GO:0003170 heart valve development;GO:0045087 innate immune response;GO:0010608 post-transcriptional regulation of gene expression;GO:0003281 ventricular septum development;GO:0002218 activation of innate immune response", "synthesized_glycan_count": 0, "hit_score": 18.3, "record_id": "P43243-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P22352-1", "uniprot_id": [ { "id": "GPX3_HUMAN", "url": "https://www.uniprot.org/uniprot/P22352", "type": "external" } ], "mass": 25552.0, "length": 226, "protein_name": "Glutathione peroxidase 3", "gene_name": "GPX3", "organism": "Human", "refseq_name": "glutathione peroxidase 3 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001316719", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316719", "type": "external" } ], "gene_names_uniprotkb": "GPX3; GPXP", "gene_names_refseq": "GPX3; GPx-P; GSHPx-3; GSHPx-P", "protein_names_uniprotkb": "Glutathione peroxidase 3; 1.11.1.9; Extracellular glutathione peroxidase; GPx-3; GPx-P; GSHPx-3; GSHPx-P; Plasma glutathione peroxidase", "protein_names_refseq": "GPx-3; extracellular glutathione peroxidase; glutathione peroxidase 3 (plasma); glutathione peroxidase 3 isoform 2 precursor; plasma glutathione peroxidase; selenoprotein GPX3", "tax_id": 9606, "disease": "vitamin B12 deficiency (Disease Ontology:DOID:0050731); colorectal adenoma (Disease Ontology:DOID:0050860); stroke (Disease Ontology:DOID:0051061); lymphoplasmacytic lymphoma (Disease Ontology:DOID:0060901); colorectal carcinoma (Disease Ontology:DOID:0080199); nasal type extranodal NK/T-cell lymphoma (Disease Ontology:DOID:0080797); stomach cancer (Disease Ontology:DOID:10534); mild pre-eclampsia (Disease Ontology:DOID:10590); pre-eclampsia (Disease Ontology:DOID:10591); hypertension (Disease Ontology:DOID:10763); sciatic neuropathy (Disease Ontology:DOID:11446); polycystic ovary syndrome (Disease Ontology:DOID:11612); nephrotic syndrome (Disease Ontology:DOID:1184); spermatic cord torsion (Disease Ontology:DOID:11996); male infertility (Disease Ontology:DOID:12336); cardiovascular system disease (Disease Ontology:DOID:1287); severe pre-eclampsia (Disease Ontology:DOID:13129); lung cancer (Disease Ontology:DOID:1324); depressive disorder (Disease Ontology:DOID:1596); congenital heart disease (Disease Ontology:DOID:1682); atherosclerosis (Disease Ontology:DOID:1936); rectum cancer (Disease Ontology:DOID:1993); transient cerebral ischemia (Disease Ontology:DOID:224); endometrial adenocarcinoma (Disease Ontology:DOID:2870); acute kidney failure (Disease Ontology:DOID:3021); coronary artery disease (Disease Ontology:DOID:3393); cerebral infarction (Disease Ontology:DOID:3526); intracranial sinus thrombosis (Disease Ontology:DOID:3572); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung adenocarcinoma (Disease Ontology:DOID:3910); systemic scleroderma (Disease Ontology:DOID:418); esophagus adenocarcinoma (Disease Ontology:DOID:4914); gallbladder carcinoma (Disease Ontology:DOID:4948); esophageal cancer (Disease Ontology:DOID:5041); cerebrovascular disease (Disease Ontology:DOID:6713); hepatocellular carcinoma (Disease Ontology:DOID:684); Barrett's adenocarcinoma (Disease Ontology:DOID:7941); lung disease (Disease Ontology:DOID:850); Barrett's esophagus (Disease Ontology:DOID:9206); type 2 diabetes mellitus (Disease Ontology:DOID:9352); acute myocardial infarction (Disease Ontology:DOID:9408); multiple myeloma (Disease Ontology:DOID:9538); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:2878); (R-HSA-3299685)", "pathway_count": 2, "publication_count": 100, "publication_id_list": "10029572;10514471;10521424;10656833;10833429;10919671;10970826;10982;11018045;11139407;11237011;11507097;11518528;11886899;11912930;12446202;12829378;1339300;15044467;15046979;15064408;15280035;15317809;15596429;15927447;16401067;16615992;1668270;16750198;16880213;17275676;17519234;1763037;17707404;18358825;18703498;18936159;1897960;19219623;19542232;1999334;20070187;20367259;20690882;2071038;21215271;21385867;21393238;21967640;2229017;22493009;22869735;22910329;23152058;23164639;23454490;23455484;25047527;27862975;29557506;29786170;30833945;31154438;31844290;31848261;32157095;32983136;33592498;33968037;34087483;3457020;35051231;3532102;35580925;36010968;3619451;36241641;3693360;38322113;38420829;38927092;39242582;5389100;60;6286671;6961438;7021796;7172448;7487923;8056346;807573;8379940;8428933;8452552;8663465;9295278;9369223;9639555;9726962;9923614", "class_list": "", "function": "GPX3-Mediated Oxidative Stress Affects Pyrimidine Metabolism Levels in Stomach Adenocarcinoma via the AMPK/mTOR Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Glutathione peroxidase 3 is a potential biomarker for konzo. Publication Status: Online-Only, [RefSeq, PubMed]; Insights into the Role of Glutathione Peroxidase 3 in Non-Neoplastic Diseases. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Protects cells and enzymes from oxidative damage, by catalyzing the reduction of hydrogen peroxide, lipid peroxides and organic hydroperoxide, by glutathione., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; TRIM6 Promotes ROS-Mediated Inflammasome Activation and Pyroptosis in Renal Tubular Epithelial Cells via Ubiquitination and Degradation of GPX3 Protein., [RefSeq, PubMed]; The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of organic hydroperoxides and hydrogen peroxide (H2O2) by glutathione, and thereby protect cells against oxidative damage. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme is secreted, and is abundantly found in plasma. Downregulation of expression of this gene by promoter hypermethylation has been observed in a wide spectrum of human malignancies, including thyroid cancer, hepatocellular carcinoma and chronic myeloid leukemia. This isozyme is also a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 44, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O43787;Q86W78;Q9NZ74;Q9UEL1", "ec_number_list": [ { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "1.11.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.9", "type": "external" }, { "id": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "1.16.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.1", "type": "external" }, { "id": "1.16.3.4", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.4", "type": "external" }, { "id": "1.11.1.12", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.12", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" } ], "go_molecular_function": "GO:0042802 identical protein binding;GO:0004602 glutathione peroxidase activity;GO:0008430 selenium binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0070062 extracellular exosome", "go_biological_process": "GO:0034599 cellular response to oxidative stress;GO:0006982 response to lipid hydroperoxide;GO:0042744 hydrogen peroxide catabolic process;GO:0006979 response to oxidative stress", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "P22352-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P31943-1", "uniprot_id": [ { "id": "HNRH1_HUMAN", "url": "https://www.uniprot.org/uniprot/P31943", "type": "external" } ], "mass": 49229.0, "length": 449, "protein_name": "Heterogeneous nuclear ribonucleoprotein H", "gene_name": "HNRNPH1", "organism": "Human", "refseq_name": "heterogeneous nuclear ribonucleoprotein H isoform a", "refseq_ac": [ { "id": "NP_001244222", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244222", "type": "external" } ], "gene_names_uniprotkb": "HNRNPH1; HNRPH1; HNRPH", "gene_names_refseq": "HNRNPH1; HNRPH1; HNRPH; NEDCDS; hnRNPH", "protein_names_uniprotkb": "Heterogeneous nuclear ribonucleoprotein H; hnRNP H", "protein_names_refseq": "epididymis secretory sperm binding protein; heterogeneous nuclear ribonucleoprotein H isoform a; heterogeneous nuclear ribonucleoprotein H1 (H); heterogeneous nuclear ribonucleoprotein H", "tax_id": 9606, "disease": "Sjogren's syndrome (Disease Ontology:DOID:12894); hepatocellular carcinoma (Disease Ontology:DOID:684); neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects (MONDO:MONDO:0859301)", "pathway": " (hsa:3187); (R-HSA-6803529); (R-HSA-72163); (R-HSA-72203); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 6, "publication_count": 273, "publication_id_list": "10.1101/2023.09.13.557529;10669729;10882114;10938105;10982855;11003644;11014198;11060040;11101529;11233976;11237011;11747608;11875071;11991638;12176931;12393912;12411573;12414731;12477934;1286667;14519844;14625303;14713954;14749727;14762106;14978097;15037765;15084397;15104674;15144186;15302935;15565158;15592455;15601847;16314458;16410617;16449636;16603716;16732326;16809785;16946708;17081983;17095540;17128255;17289661;17322306;17332742;17606899;17924679;17959601;18212344;18288197;18322460;18452278;18491316;18573884;18593880;18669648;18691976;18707149;18767875;18991276;1906035;19103666;19165350;19217410;19285943;19413330;19415658;19536130;19562805;19651622;19664994;19664995;19690332;19901323;20058876;20068231;20112406;20423332;20695905;20980672;21295486;21406692;21536652;2176635;21911577;22028470;22110043;22121020;22223895;22365833;22813749;22959432;22961380;23186163;23222130;23236153;23301498;23345524;23719902;23874216;24076191;24126823;24129315;24149845;24196718;24304693;24316715;24366607;24407421;24448447;24715725;24737827;24914973;24981863;25301780;25301781;25469497;25502872;25555158;25576301;2558966;25810538;26092250;26154972;26385511;26420826;26811146;26853435;26969736;26992070;27108190;27377154;27459055;27683217;27846572;27862975;27920218;28062851;28076346;28096519;28352266;28467828;28502770;28510447;28781166;28832583;28904123;28911096;29186539;29242379;29274231;29301961;29351928;29360106;29361316;29371260;29493099;29508533;29557506;2963332;29902443;29938792;30139799;30257008;30315122;30315277;30397120;30410026;30429286;30444036;30484775;30599162;30705154;30728453;30765414;30779550;30833945;30975767;31154438;31217245;31222486;31409651;31530632;31844290;31848261;31998317;32119511;32157095;32161166;32179686;32329775;32335897;32350084;32357974;32387766;32488085;32494006;32502341;32816001;32870666;32897882;32938616;32983136;33123756;33141586;33177556;33214551;33243851;33392160;33446560;33465208;33592498;33717175;33968037;33981976;34019948;34087483;34171305;34185709;34301950;34357683;34509645;34561969;34725712;34822310;34931806;34932366;35051231;35083852;35132862;35154160;35177536;35215846;35251023;35289036;35318648;35385551;35503261;35561310;35580925;35989590;36010968;36241641;36284347;37074911;37217939;3757028;37938771;38665916;39094585;39990658;40307207;40596516;40914422;7499401;7512260;8352591;8566756;8608946;9016565;9242493;9271388;9409616;9512519;9524131;9539711;9659921;9671485;9701291;9731529;9858549", "class_list": "", "function": "A novel HNRNPH1::ERG rearrangement in aggressive acute myeloid leukemia., [RefSeq, PubMed]; This gene encodes a member of a subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA. These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some may shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that bind to RNA and is very similar to the family member HNRPF. This gene may be associated with hereditary lymphedema type I. Alternatively spliced transcript variants have been described [provided by RefSeq, Mar 2012]., [RefSeq]; This protein is a component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes which provide the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable mRNAs in the cytoplasm. Mediates pre-mRNA alternative splicing regulation. Inhibits, together with CUGBP1, insulin receptor (IR) pre-mRNA exon 11 inclusion in myoblast. Binds to the IR RNA. Binds poly(RG)., [UniProtKB, PubMed, PubMed]; Variants in HNRNPH1 are associated with high myopia in humans and ocular coloboma in zebrafish., [RefSeq, PubMed]; Viral hijacking of hnRNPH1 unveils a G-quadruplex-driven mechanism of stress control., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 8, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 8, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 8, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 16, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 3, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B3KW86;D3DWQ2;Q6IBM4", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0042802 identical protein binding;GO:0008266 poly(U) RNA binding;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016020 membrane;GO:0071013 catalytic step 2 spliceosome;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0006396 RNA processing;GO:0043484 regulation of RNA splicing;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 28.9, "record_id": "P31943-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P41279-1", "uniprot_id": [ { "id": "M3K8_HUMAN", "url": "https://www.uniprot.org/uniprot/P41279", "type": "external" } ], "mass": 52925.0, "length": 467, "protein_name": "Mitogen-activated protein kinase kinase kinase 8", "gene_name": "MAP3K8", "organism": "Human", "refseq_name": "mitogen-activated protein kinase kinase kinase 8", "refseq_ac": [ { "id": "NP_001231063", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231063", "type": "external" } ], "gene_names_uniprotkb": "MAP3K8; COT; ESTF", "gene_names_refseq": "AURA2; COT; ESTF; EST; MAP3K8; MEKK8; TPL2; Tpl-2; c-COT", "protein_names_uniprotkb": "Mitogen-activated protein kinase kinase kinase 8; 2.7.11.25; Cancer Osaka thyroid oncogene; Proto-oncogene c-Cot; Serine/threonine-protein kinase cot; TPL-2; Tumor progression locus 2", "protein_names_refseq": "Ewing sarcoma transformant; augmented in rheumatoid arthritis 2; cot (cancer Osaka thyroid) oncogene; mitogen-activated protein kinase kinase kinase 8; proto-oncogene c-Cot; proto-oncogene serine/threoine protein kinase; tumor progression locus 2", "tax_id": 9606, "disease": "stomach cancer (Disease Ontology:DOID:10534); proliferative diabetic retinopathy (Disease Ontology:DOID:13207); background diabetic retinopathy (Disease Ontology:DOID:13208); lung cancer (Disease Ontology:DOID:1324); breast cancer (Disease Ontology:DOID:1612); lung non-small cell carcinoma (Disease Ontology:DOID:3908); clear cell renal cell carcinoma (Disease Ontology:DOID:4467); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:1326); (R-HSA-389357); (R-HSA-5684264)", "pathway_count": 3, "publication_count": 90, "publication_id_list": "10896655;11158290;11237011;11342626;12138205;12482991;12660731;12667451;12670391;12832462;12975377;14673179;15169888;15466476;15548703;15699325;15778223;16371247;16806191;17472361;17709378;1833717;18439422;18669648;19001140;19651622;19664994;19754427;19808894;20058876;2072910;22424782;22988300;23186163;23481700;23557442;24275569;24715725;24912162;25576301;25880248;26154972;26456302;27846572;27862975;27920218;28228285;28832583;28904123;29242379;29493099;29508533;29557506;29786170;30315122;30484775;31844290;32019925;32357974;32387766;32502341;32938616;32983136;33123756;33141586;33298915;33392160;33488582;33717175;33912179;33936100;34211107;34509645;34561969;35051231;35561310;35580925;36215666;36241641;36284347;37833434;38233731;39178114;39363234;39894887;8226782;8479752;8621607;9535861;9950430", "class_list": "", "function": "Clinical, Morphologic, and Molecular Features of MAP3K8 Rearranged Spitz Neoplasms: A Retrospective Study Documenting That Bonafide Spitz Melanomas Are Rare., [RefSeq, PubMed]; Overexpression of TPL2 may be a predictor of good prognosis in patients with breast invasive ductal carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Required for lipopolysaccharide (LPS)-induced, TLR4-mediated activation of the MAPK/ERK pathway in macrophages, thus being critical for production of the pro-inflammatory cytokine TNF (TNF) during immune responses. Involved in the regulation of T-helper cell differentiation and IFNG expression in T-cells. Involved in mediating host resistance to bacterial infection through negative regulation of type I interferon (IFN) production. In vitro, activates MAPK/ERK pathway in response to IL1 in an IRAK1-independent manner, leading to up-regulation of IL8 and CCL4. Transduces CD40 and TNFRSF1A signals that activate ERK in B-cells and macrophages, and thus may play a role in the regulation of immunoglobulin production. May also play a role in the transduction of TNF signals that activate JNK and NF-kappa-B in some cell types. In adipocytes, activates MAPK/ERK pathway in an IKBKB-dependent manner in response to IL1B and TNF, but not insulin, leading to induction of lipolysis. Plays a role in the cell cycle. Isoform 1 shows some transforming activity, although it is much weaker than that of the activated oncogenic variant., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Spitz melanoma with MAP3K8::ABLIM1 rearrangement: a case report with review of the literature. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The TRIM4 E3 ubiquitin ligase degrades TPL2 and is modulated by oncogenic KRAS., [RefSeq, PubMed]; This gene is an oncogene that encodes a member of the serine/threonine protein kinase family. The encoded protein localizes to the cytoplasm and can activate both the MAP kinase and JNK kinase pathways. This protein was shown to activate IkappaB kinases, and thus induce the nuclear production of NF-kappaB. This protein was also found to promote the production of TNF-alpha and IL-2 during T lymphocyte activation. This gene may also utilize a downstream in-frame translation start codon, and thus produce an isoform containing a shorter N-terminus. The shorter isoform has been shown to display weaker transforming activity. Alternate splicing results in multiple transcript variants that encode the same protein. [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": 11, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 5, "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": "A8K2Q5;D3DRX1;Q14275;Q5T855;Q9HC81", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0004709 MAP kinase kinase kinase activity;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0000165 MAPK cascade;GO:0031295 T cell costimulation;GO:0050729 positive regulation of inflammatory response;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 9.3, "record_id": "P41279-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBQ6-1", "uniprot_id": [ { "id": "EXTL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBQ6", "type": "external" } ], "mass": 37466.0, "length": 330, "protein_name": "Exostosin-like 2", "gene_name": "EXTL2", "organism": "Human", "refseq_name": "exostosin-like 2 isoform 1", "refseq_ac": [ { "id": "NP_001028197", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028197", "type": "external" } ], "gene_names_uniprotkb": "EXTL2; EXTR2", "gene_names_refseq": "EXTL2; EXTR2", "protein_names_uniprotkb": "Exostosin-like 2; 2.4.1.223; Alpha-1,4-N-acetylhexosaminyltransferase EXTL2; Alpha-GalNAcT EXTL2; EXT-related protein 2; Glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase", "protein_names_refseq": "EXT-related protein 2; alpha-1,4-N-acetylhexosaminyltransferase EXTL2; alpha-GalNAcT EXTL2; exostoses (multiple)-like 2; exostosin-like 2 isoform 1; glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; processed exostosin-like 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:2135); (R-HSA-2022928); (R-HSA-381038)", "pathway_count": 3, "publication_count": 74, "publication_id_list": "10.1101/2023.09.13.557529;10318803;10601334;10639137;10644753;10677367;10716625;10827079;11087757;11169766;11237011;11274177;11279150;11390981;12138164;12204115;12492399;15082721;15466936;15607426;15831490;16343444;16461360;16539657;18664523;20554947;21282569;21700882;23395820;25880248;26992070;28132690;28148688;28467828;28904123;29557506;30429286;30471091;30573663;30833945;31020640;31844290;31848261;32157095;32350084;32517548;32703234;32938616;33159882;33592498;33717175;33936100;33968037;34357683;35051231;35154160;35251023;35676258;36010968;36181793;36241641;36581221;37074911;7590364;7601448;8666242;9037597;9346953;9450183;9463333;9473480;9535912;9915799;9988767", "class_list": "glycogene;glycosyltransferase", "function": "Altered Expression of Aggrecan, FAM20B, B3GALT6, and EXTL2 in Patients with Osteoarthritis and Kashin-Beck Disease., [RefSeq, PubMed]; Donor binding appears to undergo two distinct steps, beginning with the N-acetyl group expelling water from the donor- enzyme complex into the bulk solvent followed by positioning of the donor into the binding site for interactions with the enzyme, [RefSeq, PubMed]; EXTL2 functions to suppress GAG biosynthesis that is enhanced by a xylose kinase and the EXTL2-dependent mechanism that regulates GAG biosynthesis might be a 'quality control system' for proteoglycans, [RefSeq, PubMed]; Glycosyltransferase required for the biosynthesis of heparan-sulfate and responsible for the alternating addition of beta-1-4-linked glucuronic acid (GlcA) and alpha-1-4-linked N-acetylglucosamine (GlcNAc) units to nascent heparan sulfate chains., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Glycosyltransferases EXTL2 and EXTL3 cellular balance dictates heparan sulfate biosynthesis and shapes gastric cancer cell motility and invasion., [RefSeq, PubMed]; The glycosyltransferase EXTL2 promotes proteoglycan deposition and injurious neuroinflammation following demyelination. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 365, "reported_interactions": 0, "missing_score": 9507, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R795;D3DT60", "ec_number_list": [ { "id": "2.4.1.223", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.223", "type": "external" } ], "go_molecular_function": "GO:0030145 manganese ion binding;GO:0005539 glycosaminoglycan binding;GO:0047237 glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity;GO:0001888 glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity;GO:0035248 alpha-1,4-N-acetylgalactosaminyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006044 N-acetylglucosamine metabolic process;GO:0015012 heparan sulfate proteoglycan biosynthetic process;GO:0019276 UDP-N-acetylgalactosamine metabolic process;GO:1901135 carbohydrate derivative metabolic process", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q9UBQ6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.100.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96RN5-1", "uniprot_id": [ { "id": "MED15_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96RN5", "type": "external" } ], "mass": 86753.0, "length": 788, "protein_name": "Mediator of RNA polymerase II transcription subunit 15", "gene_name": "MED15", "organism": "Human", "refseq_name": "mediator of RNA polymerase II transcription subunit 15 isoform a", "refseq_ac": [ { "id": "NP_001003891", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003891", "type": "external" } ], "gene_names_uniprotkb": "MED15; ARC105; CTG7A; PCQAP; TIG1; TNRC7", "gene_names_refseq": "ARC105; CAG7A; CTG7A; MED15; PCQAP; TIG-1; TIG1; TNRC7", "protein_names_uniprotkb": "Mediator of RNA polymerase II transcription subunit 15; ARC105; Activator-recruited cofactor 105 kDa component; CTG repeat protein 7a; Mediator complex subunit 15; PC2 glutamine/Q-rich-associated protein; Positive cofactor 2 glutamine/Q-rich-associated protein; TIG-1; TPA-inducible gene 1 protein; Trinucleotide repeat-containing gene 7 protein", "protein_names_refseq": "CTG repeat protein 7a; PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein; PC2 glutamine/Q-rich-associated protein; PC2-glutamine-rich-associated protein; TPA inducible gene-1; TPA inducible protein; TPA-inducible gene 1 protein; activator-recruited cofactor 105 kDa component; activator-recruited cofactor, 105-kD; mediator of RNA polymerase II transcription subunit 15 isoform a; mediator of RNA polymerase II transcription subunit 15; positive cofactor 2, glutamine/Q-rich-associated protein; trinucleotide repeat containing 7; trinucleotide repeat-containing gene 7 protein", "tax_id": 9606, "disease": "chromosome 22q11.2 deletion syndrome, distal (Disease Ontology:DOID:0060413); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:51586); (R-HSA-1989781); (R-HSA-212436); (R-HSA-381340); (R-HSA-9833110)", "pathway_count": 5, "publication_count": 170, "publication_id_list": "10075656;10235266;10235267;10330177;10425206;10777541;11024300;11095972;11237011;11267664;11395415;11414760;11607032;11872672;12118000;12167862;12177166;12213831;12505311;12582161;12829629;14519192;14976261;15067378;15130092;15175151;15175163;15273253;15635043;15850785;15896744;15919796;15989967;16380219;16606702;16630888;16719718;16799563;16904669;16972786;17011499;17980149;18420935;18477386;18540824;18568018;18669648;18719978;18848529;18931025;19043829;19088433;19115207;19172745;19413330;19710929;19934321;20068231;20101261;20110263;20112406;20410276;2163759;22090124;22544926;23186163;23239344;24196956;24275569;24715725;25576301;25854864;26154972;26811146;26992070;27862975;28063628;28218747;28228285;28446606;28657654;28832583;28904123;29242379;29331515;29393594;29437277;29493099;29557506;29632046;29632711;29769354;29786170;30059200;30315122;30379171;30410026;30524438;30779550;30833945;31092671;31154438;31217245;31492838;31844290;32157095;32161166;32357974;32387766;32897882;32938616;32938750;32983136;33123756;33214551;33298915;33592498;33691108;33717175;33772081;33904398;33936100;33968037;33981976;34019948;34171305;34185709;34509645;34725712;34846842;34932366;35051231;35132862;35138101;35254053;35289036;35580925;35705054;36010968;36102648;36284347;36581221;36997032;37340703;37541260;37938771;38253038;38665916;39531497;39894887;40307207;40596516;7685352;7892212;8183939;8325954;8643605;8647822;8706692;8769649;8770873;8970730;9012850;9065481;9225980;9454824;9637681;9653119;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. Required for cholesterol-dependent gene regulation. Positively regulates the Nodal signaling pathway., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Cystic MED15::TFE3 translocation renal cell carcinoma: histologic mimicker of multilocular cystic renal neoplasm of low malignant potential with review of the literature. Review article, [RefSeq, PubMed]; MED15 prion-like domain forms a coiled-coil responsible for its amyloid conversion and propagation. Publication Status: Online-Only, [RefSeq, PubMed]; Simple biochemical features underlie transcriptional activation domain diversity and dynamic, fuzzy binding to Mediator. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a subunit of the multiprotein complexes PC2 and ARC/DRIP and may function as a transcriptional coactivator in RNA polymerase II transcription. This gene contains stretches of trinucleotide repeats and is located in the chromosome 22 region which is deleted in DiGeorge syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]., [RefSeq]; The protein encoded by this gene was identified as ARC105, a 105kDa component of the Activator-Recruited Cofactor (ARC) that is involved in mediating gene activation by several classes of transcriptional regulators., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 12, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 12, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 12, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "D3DX31;D3DX32;O15413;Q6IC31;Q8NF16;Q96CT0;Q96IH7;Q9P1T3", "ec_number_list": [], "go_molecular_function": "GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016020 membrane;GO:0070847 core 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:0006355 regulation of DNA-templated transcription;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 18.4, "record_id": "Q96RN5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULT8-1", "uniprot_id": [ { "id": "HECD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULT8", "type": "external" } ], "mass": 289368.0, "length": 2610, "protein_name": "E3 ubiquitin-protein ligase HECTD1", "gene_name": "HECTD1", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase HECTD1 isoform 1", "refseq_ac": [ { "id": "NP_056197", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056197", "type": "external" } ], "gene_names_uniprotkb": "HECTD1; KIAA1131", "gene_names_refseq": "EULIR; HECTD1", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase HECTD1; 2.3.2.26; E3 ligase for inhibin receptor; EULIR; HECT domain-containing protein 1", "protein_names_refseq": "E3 ligase for inhibin receptor; E3 ubiquitin-protein ligase HECTD1 isoform 1; E3 ubiquitin-protein ligase HECTD1; HECT domain containing E3 ubiquitin protein ligase 1; HECT domain-containing protein 1; HECT-type E3 ubiquitin transferase HECTD1", "tax_id": 9606, "disease": "", "pathway": " (hsa:25831); (R-HSA-983168)", "pathway_count": 2, "publication_count": 107, "publication_id_list": "10.1101/2023.09.13.557529;11062501;11237011;11350924;12421765;12646216;14734113;15104674;15224091;15224092;15571818;16595681;16849449;16954532;17074750;18662542;18669648;19028597;19352404;19452197;19489725;19851334;19874575;19940261;20112406;21406692;2261476;23186163;23277359;23301498;23481700;24275569;24667607;25418920;25645385;25892735;26768311;26929215;27600516;27862975;27920218;28063628;28073378;28218747;28228285;28446606;28514659;28604694;28649982;28832583;28834231;29237092;29242379;29306077;29331515;29351928;29393594;29508533;29540674;29632046;29632711;29769354;29786170;29789417;30059200;30315122;30379171;30429286;30620550;30779550;30833945;31092671;31154438;31373491;31492838;31530632;31637018;31848261;31998317;32119511;32161166;32265295;33214551;33711283;34019948;34725712;35132862;35138101;35254053;35513511;35705054;35915203;36215666;36284347;37074911;37541260;37938771;37993750;38253038;38451291;38665916;38838015;39531497;39534244;40307207;9380723;9668046", "class_list": "", "function": "E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates (PubMed:33711283). Mediates 'Lys-63'-linked polyubiquitination of HSP90AA1 which leads to its intracellular localization and reduced secretion (By similarity). Negatively regulating HSP90AA1 secretion in cranial mesenchyme cells may impair their emigration and may be essential for the correct development of the cranial neural folds and neural tube closure (By similarity). Catalyzes ubiquitination and degradation of ZNF622, an assembly factor for the ribosomal 60S subunit, in hematopoietic cells, thereby promoting hematopoietic stem cell renewal (PubMed:33711283)., [UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; HECTD1 may be involved in the regulation of ABCA1-mediated cholesterol export from unloaded macrophages to apoA-I., [RefSeq, PubMed]; HectD1 promotes the APC-Axin interaction to negatively regulate Wnt signaling., [RefSeq, PubMed]; Hectd1 regulates the protein level of IQGAP1 through ubiquitination. Publication Status: Online-Only, [RefSeq, PubMed]; Identification and functional analysis of rare HECTD1 missense variants in human neural tube defects., [RefSeq, PubMed]; Nucleoporin 93, a new substrate of the E3 ubiquitin protein ligase HECTD1, promotes esophageal squamous cell carcinoma progression., [RefSeq, PubMed]; Our high-resolution structures show a new fold composed of five small helices where H3 and H4 are tilted in a novel arrangement; we call this fold the Basic Tilted Helix Bundle (BTHB) domain., [RefSeq, PubMed]; SiO2 concomitantly increased circHECTD1 expression, which, in turn, inhibited HECTD1 protein expression. Publication Status: Online-Only, [RefSeq, PubMed]; The E3 ubiquitin ligase HECTD1 contributes to cell proliferation through an effect on mitosis. 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": 4, "reported_o_glycosites_with_glycan": 28, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 28, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 28, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 78, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 0, "glyco_site_count": 32, "binding_glycan_count": 0, "secondary_ac_list": "D3DS86;Q6P445;Q86VJ1;Q96F34;Q9UFZ7", "ec_number_list": [ { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "2.3.2.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.34", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus", "go_biological_process": "GO:0003170 heart valve development;GO:0016567 protein ubiquitination;GO:0003281 ventricular septum development;GO:0035904 aorta development;GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 14.6, "record_id": "Q9ULT8-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00422-1", "uniprot_id": [ { "id": "SAP18_HUMAN", "url": "https://www.uniprot.org/uniprot/O00422", "type": "external" } ], "mass": 17561.0, "length": 153, "protein_name": "Histone deacetylase complex subunit SAP18", "gene_name": "SAP18", "organism": "Human", "refseq_name": "histone deacetylase complex subunit SAP18 isoform 1", "refseq_ac": [ { "id": "NP_005861", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005861", "type": "external" } ], "gene_names_uniprotkb": "SAP18; GIG38", "gene_names_refseq": "2HOR0202; SAP18P; SAP18", "protein_names_uniprotkb": "Histone deacetylase complex subunit SAP18; 18 kDa Sin3-associated polypeptide; 2HOR0202; Cell growth-inhibiting gene 38 protein; Sin3-associated polypeptide p18", "protein_names_refseq": "18 kDa Sin3-associated polypeptide; Sin3A-associated protein, 18kDa; cell growth inhibiting protein 38; cell growth-inhibiting gene 38 protein; epididymis secretory sperm binding protein; histone deacetlyase complex subunit SAP18; histone deacetylase complex subunit SAP18 isoform 1; histone deacetylase complex subunit SAP18; sin3-associated polypeptide, 18 kDa; sin3-associated polypeptide, p18", "tax_id": 9606, "disease": "", "pathway": " (hsa:10284); (R-HSA-3214815); (R-HSA-427413); (R-HSA-72163); (R-HSA-9679191)", "pathway_count": 5, "publication_count": 184, "publication_id_list": "10087012;10444591;10449787;10471499;10748112;10882114;10904264;10922406;10926844;11014198;11101529;11233976;11237011;11509652;11739383;11742974;11909966;11991638;12032298;12176931;12411573;12414731;12477934;12665594;12724404;14610093;14625303;14713954;16115318;16314458;16522641;16809785;17002296;17095540;17211407;17332742;17355984;17606899;17662961;18322460;18593880;19103666;19165350;19536130;19838300;20223979;20423332;20966198;20980672;21536652;21587264;2176635;22110043;22203037;22365833;22401777;22552008;22814904;22959432;22961380;23222130;23236153;23345524;23481700;23641311;24196718;24272870;24304693;24448447;24584101;24715725;24737827;24914973;25218447;25418920;25555158;25576301;2558966;25645385;25755297;25772364;25801024;25916849;26002965;26101246;26154972;26385511;26420826;26811146;26969736;26992070;27377154;27459055;27683217;27846572;27920218;28062851;28063628;28076346;28218747;28228285;28425720;28502770;28510447;28781166;28832583;28834231;28904123;29242379;29301961;29360106;29361316;29393594;29493099;29508533;29557506;29632046;29632711;2963332;29786170;29945920;30201761;30315122;30315277;30410026;30444036;30705154;30728453;30765414;30779550;30975767;31048504;31154438;31217245;31409651;31844290;31848261;31998317;32157095;32179686;32329775;32387766;32494006;32502341;32897882;32983136;33141586;33243851;33298915;33446560;33465208;33592498;33691108;33936100;34019948;34211107;34301950;34822310;34932366;35318648;35385551;35561310;35580925;36241641;36284347;37217939;37486712;3757028;40596516;7513682;7597036;8566756;8608946;9016565;9150135;9242493;9512519;9524131;9539711;9651585;9671485;9701291;9731529;9790534", "class_list": "", "function": "Component of the SIN3-repressing complex. Enhances the ability of SIN3-HDAC1-mediated transcriptional repression. When tethered to the promoter, it can direct the formation of a repressive complex to core histone proteins. 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 mRNA processing during in vitro splicing reactions. The ASAP complex promotes apoptosis and is disassembled after induction of apoptosis. Involved in the splicing modulation of BCL2L1/Bcl-X (and probably other apoptotic genes); specifically inhibits the formation of proapoptotic isoforms such as Bcl-X(S); the activity is different from the established EJC assembly and function., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Functional role of SAP18 protein: From transcriptional repression to splicing regulation. Review article, [RefSeq, PubMed]; Histone acetylation plays a key role in the regulation of eukaryotic gene expression. Histone acetylation and deacetylation are catalyzed by multisubunit complexes. The protein encoded by this gene is a component of the histone deacetylase complex, which includes SIN3, SAP30, HDAC1, HDAC2, RbAp46, RbAp48, and other polypeptides. This protein directly interacts with SIN3 and enhances SIN3-mediated transcriptional repression when tethered to the promoter. A pseudogene has been identified on chromosome 2. [provided by RefSeq, Dec 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": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2R494;Q2TTR4;Q6IAW9;Q8N606;Q9UF14;X6RAL5", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003714 transcription corepressor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0016607 nuclear speck;GO:0016604 nuclear body", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006397 mRNA processing;GO:0043065 positive regulation of apoptotic process;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 18.8, "record_id": "O00422-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96JZ2-1", "uniprot_id": [ { "id": "HSH2D_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96JZ2", "type": "external" } ], "mass": 39002.0, "length": 352, "protein_name": "Hematopoietic SH2 domain-containing protein", "gene_name": "HSH2D", "organism": "Human", "refseq_name": "hematopoietic SH2 domain-containing protein isoform 1", "refseq_ac": [ { "id": "NP_116244", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_116244", "type": "external" } ], "gene_names_uniprotkb": "HSH2D; ALX", "gene_names_refseq": "ALX; HSH2D; HSH2", "protein_names_uniprotkb": "Hematopoietic SH2 domain-containing protein; Adaptor in lymphocytes of unknown function X; Hematopoietic SH2 protein", "protein_names_refseq": "adaptor in lymphocytes of unknown function X; hematopoietic SH2 domain-containing protein isoform 1; hematopoietic SH2 domain-containing protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:84941)", "pathway_count": 1, "publication_count": 60, "publication_id_list": "11237011;11700021;12960172;15284240;16169852;19913121;20058876;23481700;24714562;24715725;25576301;26154972;26248046;26375851;26728094;26992070;27058226;27846572;27860453;27920218;28218747;28228285;28411811;28832583;28834231;28904123;29242379;29393594;29437277;29508533;29632711;29786170;30315122;30410026;30524438;31217245;31844290;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33000278;33141586;33298915;33392160;33691108;33717175;33912179;33936100;34433824;34932366;35051231;35318648;35561310;35580925;37217939;39990658", "class_list": "", "function": "ALX exerts its effect on IL-2 up-regulation in the cytoplasm and responds to TCR and CD28 signaling, [RefSeq, PubMed]; ALX is an adaptor involved in T cell activation and interleukin-2 (IL-2) promoter activation, [RefSeq, PubMed]; Both ALX and ChemR23 were present in human synovium and medial tibial plateau bone obtained following total knee replacement surgery for osteoarthritis., [RefSeq, PubMed]; HSH2D contributes to methotrexate resistance in human Tcell acute lymphoblastic leukaemia., [RefSeq, PubMed]; Involved in tyrosine kinase signaling in hematopoietic cells, [RefSeq, PubMed]; May be a modulator of the apoptotic response through its ability to affect mitochondrial stability (By similarity). Adapter protein involved in tyrosine kinase and CD28 signaling. Seems to affect CD28-mediated activation of the RE/AP element of the interleukin-2 promoter., [UniProtKB, PubMed, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Pro-inflammatory stimuli lead to FPR2/ALX expression while LXA4 induces an anti-inflammatory response, [RefSeq, PubMed]; T-cell activation requires 2 signals: recognition of antigen by the T-cell receptor (see TCR; MIM 186880) and a costimulatory signal provided primarily by CD28 (MIM 186760) in naive T cells. HSH2 is a target of both of these signaling pathways (Greene et al., 2003 [PubMed 12960172]).[supplied by OMIM, Mar 2008]., [RefSeq]; The ALX SH2 domain plays a critical role in ALX function downstream of CD28, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 7, "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": "B5ME72;Q6ZNG7", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0007165 signal transduction;GO:0042110 T cell activation", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q96JZ2-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HAH7-2", "uniprot_id": [ { "id": "FBRS_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HAH7", "type": "external" } ], "mass": 48388.0, "length": 460, "protein_name": "Probable fibrosin-1", "gene_name": "FBRS", "organism": "Human", "refseq_name": "probable fibrosin-1", "refseq_ac": [ { "id": "NP_001098549", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001098549", "type": "external" } ], "gene_names_uniprotkb": "FBRS; FBS1; FBS", "gene_names_refseq": "FBRS; FBS1; FBS", "protein_names_uniprotkb": "Probable fibrosin-1", "protein_names_refseq": "fibrogenic lymphokine; fibrosin 1; probable fibrosin-1 long transcript protein; probable fibrosin-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:64319)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "10493891;11733950;17083929;23186163;24129315;24715725;27846572;27920218;28228285;28904123;30315122;31844290;32157095;32357974;32387766;32938616;33298915;33912179;33968037;34019948;34509645;35051231;36010968;38665916;39534244;7892239;9809749", "class_list": "", "function": "Characterization of mouse fibrosin and demonstration of growth-stimulating effects in fibroblasts., [RefSeq, PubMed]; Fibrosin is a lymphokine secreted by activated lymphocytes that induces fibroblast proliferation (Prakash and Robbins, 1998 [PubMed 9809749]).[supplied by OMIM, Mar 2008]., [RefSeq]; Fibrosin stimulates epithelialization of wounds in mouse and reduces wound healing time by approximately 30-40%., [RefSeq, PubMed]; In a mouse model, fibrosin upregulates the appearance of myofibroblasts during wound healing and may be important in the process of scarring., [RefSeq, PubMed]; In a rat model, ethanol can directly stimulate fibroblast proliferation and production of fibrogenic cytokines, particularly fibrosin, which appears to contribute to alcohol-induced hepatic fibrosis 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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B4DP86;Q96CI9;Q9H9X4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q9HAH7-2", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60812-1", "uniprot_id": [ { "id": "HNRC1_HUMAN", "url": "https://www.uniprot.org/uniprot/O60812", "type": "external" } ], "mass": 32142.0, "length": 293, "protein_name": "Heterogeneous nuclear ribonucleoprotein C-like 1", "gene_name": "HNRNPCL1", "organism": "Human", "refseq_name": "heterogeneous nuclear ribonucleoprotein C-like 1", "refseq_ac": [ { "id": "NP_001013653", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013653", "type": "external" } ], "gene_names_uniprotkb": "HNRNPCL1; HNRPCL1", "gene_names_refseq": "HNRNPCL1; HNRPCL1", "protein_names_uniprotkb": "Heterogeneous nuclear ribonucleoprotein C-like 1; hnRNP C-like-1; hnRNP core protein C-like 1", "protein_names_refseq": "heterogeneous nuclear ribonucleoprotein C-like 1; hnRNP C-like-1; hnRNP core protein C-like 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:343069)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "20068231;21136679;22121020;22424782;25418920;25810538;26154972;26929215;27846572;28904123;29393594;29557506;30484775;30779550;30833945;31154438;31222486;31848261;31937595;31998317;32350084;32357974;32387766;32502341;33091337;33141586;33298915;33392160;33592498;33912179;33936100;34087483;34171305;34405274;36215666;36284347;37217939", "class_list": "", "function": "May play a role in nucleosome assembly by neutralizing basic proteins such as A and B core hnRNPs., [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": 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": "B2RP44", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:1990904 ribonucleoprotein complex", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "O60812-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P55795-1", "uniprot_id": [ { "id": "HNRH2_HUMAN", "url": "https://www.uniprot.org/uniprot/P55795", "type": "external" } ], "mass": 49264.0, "length": 449, "protein_name": "Heterogeneous nuclear ribonucleoprotein H2", "gene_name": "HNRNPH2", "organism": "Human", "refseq_name": "heterogeneous nuclear ribonucleoprotein H2", "refseq_ac": [ { "id": "NP_001027565", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027565", "type": "external" } ], "gene_names_uniprotkb": "HNRNPH2; FTP3; HNRPH2", "gene_names_refseq": "FTP3; HNRNPH2; HNRPH'; HNRPH2; MRXSB; NRPH2; hnRNPH'", "protein_names_uniprotkb": "Heterogeneous nuclear ribonucleoprotein H2; FTP-3; Heterogeneous nuclear ribonucleoprotein H'; hnRNP H'; hnRNP H2", "protein_names_refseq": "FTP-3; epididymis secretory sperm binding protein; heterogeneous nuclear ribonucleoprotein H-prime; heterogeneous nuclear ribonucleoprotein H2 (H'); heterogeneous nuclear ribonucleoprotein H2; hnRNP H'; hnRNP H2", "tax_id": 9606, "disease": "syndromic X-linked intellectual developmental disorder bain type (Disease Ontology:DOID:0070538)", "pathway": " (hsa:3188); (R-HSA-72163); (R-HSA-72203); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 5, "publication_count": 203, "publication_id_list": "10669729;10882114;11014198;11054566;11060040;11101529;11233976;11747608;11991638;12176931;12411573;12414731;12477934;14519844;14625303;14713954;14729942;14749727;14762106;15037765;15084397;15565158;15592455;16314458;16809785;17095540;17128255;17287340;17332742;17606899;18288197;18322460;18452278;18593880;18669648;18691976;19103666;19165350;19217410;19536130;19651622;19690332;20068231;20112406;20166139;20423332;20695905;20980672;21295486;21536652;2176635;21911577;22110043;22121020;22223895;22365833;22813749;22959432;22961380;23186163;23222130;23236153;23301498;23345524;23481700;23719902;23874216;24076191;24129315;24149845;24196718;24304693;24316715;24407421;24448447;24644279;24737827;24914973;24981863;25301780;25301781;25418920;25555158;25576301;2558966;25645385;25892735;26092250;26385511;26420826;26758079;26969736;26992070;27108190;27377154;27459055;27545675;27600516;27683217;27846572;28062851;28063628;28076346;28096519;28502770;28510447;28514659;28649982;28781166;28832583;28834231;28855257;28904123;28911096;29186539;29242379;29274231;29301961;29360106;29361316;29393594;29493099;29508533;29557506;29632046;2963332;29786170;29902443;30139799;30257008;30315277;30397120;30429286;30599162;30705154;30728453;30765414;30975767;31154438;31409651;31530632;31844290;32157095;32179686;32265295;32329775;32387766;32488085;32494006;32502341;32816001;32938616;32983136;33141586;33177556;33243851;33298915;33446560;33592498;33912179;33968037;33981976;34014051;34019948;34087483;34171305;34229054;34301950;34433824;34725712;34822310;34907471;34932366;35051231;35132862;35177536;35215846;35385551;35580925;36284347;37372334;37399401;3757028;37938771;38665916;40596516;7499401;7959728;8352591;8566756;8608946;9016565;9110171;9144467;9242493;9409616;9512519;9524131;9539711;9659921;9671485;9701291;9731529", "class_list": "", "function": "Development and Pilot Screen of Novel High Content Assay for Down Regulators of Expression of Heterogenous Nuclear Ribonuclear Protein H2., [RefSeq, PubMed]; Rett-like Phenotypes in HNRNPH2-Related Neurodevelopmental Disorder. Publication Status: Online-Only, [RefSeq, PubMed]; The RNA-binding proteins hnRNP H and F regulate splicing of a MYC-dependent HRAS exon in prostate cancer cells., [RefSeq, PubMed]; This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that binds to RNAs. It is very similar to the family member HNRPH1. This gene is thought to be involved in Fabray disease and X-linked agammaglobulinemia phenotype. Alternative splicing results in multiple transcript variants encoding the same protein. Read-through transcription between this locus and the ribosomal protein L36a gene has been observed. [provided by RefSeq, Jan 2011]., [RefSeq]; This protein is a component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes which provide the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable mRNAs in the cytoplasm. Binds poly(RG)., [UniProtKB]; Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 9, "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": "A1L400;Q9HHA7", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016020 membrane;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0043484 regulation of RNA splicing", "synthesized_glycan_count": 0, "hit_score": 20.6, "record_id": "P55795-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BY11-1", "uniprot_id": [ { "id": "PACN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BY11", "type": "external" } ], "mass": 50966.0, "length": 444, "protein_name": "Protein kinase C and casein kinase substrate in neurons protein 1", "gene_name": "PACSIN1", "organism": "Human", "refseq_name": "protein kinase C and casein kinase substrate in neurons protein 1", "refseq_ac": [ { "id": "NP_001186512", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186512", "type": "external" } ], "gene_names_uniprotkb": "PACSIN1; KIAA1379", "gene_names_refseq": "PACSIN1; SDPI", "protein_names_uniprotkb": "Protein kinase C and casein kinase substrate in neurons protein 1; Syndapin-1", "protein_names_refseq": "protein kinase C and casein kinase substrate in neurons protein 1; syndapin I; syndapin-1", "tax_id": 9606, "disease": "Huntington's disease (Disease Ontology:DOID:12858); neurodegenerative disease (Disease Ontology:DOID:1289)", "pathway": " (hsa:29993); (R-HSA-8856828)", "pathway_count": 2, "publication_count": 146, "publication_id_list": "10535736;10542231;10559856;10559861;10559924;10625686;10766823;11082044;11179684;11231140;11237011;11239472;11470803;11516654;11517213;11532990;11577110;11877457;11877461;11889126;12057195;12213833;12447393;12847086;12952949;14555962;14581451;14617351;14622578;14622579;15252009;15260957;15318165;15339664;15502812;15502813;15649145;15703209;15802264;15895077;15916959;16103228;16215232;16326391;16410077;16516836;16707488;16798879;16880396;16903783;17018281;17035995;17158794;17494869;17512409;17540576;17609109;17681954;17762867;17765681;17978091;18093523;18388313;1847920;18790740;18981233;19092055;19287005;19296720;19458185;19536138;19549836;19575674;19603039;19696796;19713939;19776351;19809571;20033059;20059951;20211604;20231386;20428113;20448150;20826345;20946875;2115402;21187331;21278753;21316588;21445324;21482805;21499258;21613550;21779028;21841790;21883765;21927000;21927001;21962517;22099461;22233676;22371566;22484487;22505844;22573331;22815487;22863004;23236520;23297414;23536704;23823722;23861397;23891661;24130457;24186068;24581490;24789820;24966051;25107275;25303366;25341920;26042225;26403691;26768311;29393594;31530632;32157095;32357974;32488085;33968037;34290082;35318648;35580925;36622335;38826133;6146630;7877694;8524399;8552632;9092476;9100026;9427626;9428629;9635431;9736607", "class_list": "", "function": "De Novo PACSIN1 Gene Variant Found in Childhood Lupus and a Role for PACSIN1/TRAF4 Complex in Toll-like Receptor 7 Activation., [RefSeq, PubMed]; PACSIN1 promotes immunosuppression in gastric cancer by degrading MHC-I., [RefSeq, PubMed]; Plays a role in the reorganization of the microtubule cytoskeleton via its interaction with MAPT; this decreases microtubule stability and inhibits MAPT-induced microtubule polymerization. Plays a role in cellular transport processes by recruiting DNM1, DNM2 and DNM3 to membranes. Plays a role in the reorganization of the actin cytoskeleton and in neuron morphogenesis via its interaction with COBL and WASL, and by recruiting COBL to the cell cortex. Plays a role in the regulation of neurite formation, neurite branching and the regulation of neurite length. Required for normal synaptic vesicle endocytosis; this process retrieves previously released neurotransmitters to accommodate multiple cycles of neurotransmission. Required for normal excitatory and inhibitory synaptic transmission (By similarity). Binds to membranes via its F-BAR domain and mediates membrane tubulation., [UniProtKB, PubMed, PubMed, PubMed]; Regulation of Synapse Weakening through Interactions of the Microtubule Associated Protein Tau with PACSIN1., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q9P2G8", "ec_number_list": [], "go_molecular_function": "GO:0005543 phospholipid binding;GO:0042802 identical protein binding;GO:0008092 cytoskeletal protein binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0043679 axon terminus", "go_biological_process": "GO:0007015 actin filament organization;GO:0030100 regulation of endocytosis;GO:0072659 protein localization to plasma membrane;GO:0048812 neuron projection morphogenesis;GO:0007010 cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 14.7, "record_id": "Q9BY11-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96N64-1", "uniprot_id": [ { "id": "PWP2A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96N64", "type": "external" } ], "mass": 81960.0, "length": 755, "protein_name": "PWWP domain-containing protein 2A", "gene_name": "PWWP2A", "organism": "Human", "refseq_name": "PWWP domain-containing protein 2A isoform b", "refseq_ac": [ { "id": "NP_001124336", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124336", "type": "external" } ], "gene_names_uniprotkb": "PWWP2A; KIAA1935; MST101", "gene_names_refseq": "MST101; PWWP2A", "protein_names_uniprotkb": "PWWP domain-containing protein 2A", "protein_names_refseq": "MSTP101; PWWP domain-containing protein 2A isoform b; PWWP domain-containing protein 2A", "tax_id": 9606, "disease": "", "pathway": " (hsa:114825); (R-HSA-9937850)", "pathway_count": 2, "publication_count": 69, "publication_id_list": "11237011;12183469;12504854;15456747;15516265;15643425;15701600;16415179;16428440;16707490;17081983;18571423;19690332;20068231;20523938;21406692;21490301;22398447;23186163;23239876;23361464;23481700;24252660;24275569;24307175;24385926;24554700;24920672;25576301;25753662;25755297;26992070;27732854;27806305;27846572;28533432;28645917;28832583;28977666;29242379;30122475;30228260;30327463;30379171;30429286;30980593;31376935;31844290;32157095;32161166;32350084;32357974;33141586;33264408;33283408;33298915;33392160;33912179;33968037;33981976;34171305;35051231;35251023;35580925;36241641;37217939;9427644;9804427;9885572", "class_list": "", "function": "Chromatin-binding protein that acts as an adapter between distinct nucleosome components (H3K36me3 or H2A.Z) and chromatin-modifying complexes, contributing to the regulation of the levels of histone acetylation at actively transcribed genes (PubMed:30228260, PubMed:30327463). Competes with CHD4 and MBD3 for interaction with MTA1 to form a NuRD subcomplex, preventing the formation of full NuRD complex (containing CHD4 and MBD3), leading to recruitment of HDACs to gene promoters resulting in turn in the deacetylation of nearby H3K27 and H2A.Z (PubMed:30228260, PubMed:30327463). Plays a role in facilitating transcriptional elongation and repression of spurious transcription initiation through regulation of histone acetylation (By similarity). Essential for proper mitosis progression (PubMed:28645917)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; It has been shown that dysregulation of the circular RNA PWWP2A-miR-579 axis is involved in dexamethasone-induced cytotoxicity in human osteoblasts., [RefSeq, PubMed]; Study in HeLa, HEK293F, and mouse embryonic stem cells reveal that loss of PWWP2A/B leads to increases in histone acetylation predominantly at highly expressed genes, accompanied by decreases in Pol II elongation. Collectively, these findings suggest a role for PWWP2A/B in regulating transcription through the fine-tuning of histone acetylation dynamics at actively transcribed genes. Publication Status: Online-Only, [RefSeq, PubMed]; Thus, PWWP2A is a novel H2A.Z-specific multivalent chromatin binder providing a surprising link between H2A.Z, chromosome segregation, and organ 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": 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": 3, "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": "G5EA07;Q2HJJ2;Q8IYR3;Q96PV3", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0042393 histone binding;GO:0120325 NuRD complex binding;GO:0140003 histone H3K36me3 reader activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0032968 positive regulation of transcription elongation by RNA polymerase II;GO:0001178 regulation of transcriptional start site selection at RNA polymerase II promoter", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q96N64-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P28065-1", "uniprot_id": [ { "id": "PSB9_HUMAN", "url": "https://www.uniprot.org/uniprot/P28065", "type": "external" } ], "mass": 23264.0, "length": 219, "protein_name": "Proteasome subunit beta type-9", "gene_name": "PSMB9", "organism": "Human", "refseq_name": "proteasome subunit beta type-9 precursor", "refseq_ac": [ { "id": "NP_002791", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002791", "type": "external" } ], "gene_names_uniprotkb": "PSMB9; LMP2; PSMB6i; RING12", "gene_names_refseq": "LMP2; PRAAS3; PRAAS6; PSMB6i; PSMB9; RING12; beta1i", "protein_names_uniprotkb": "Proteasome subunit beta type-9; 3.4.25.1; Low molecular mass protein 2; Macropain chain 7; Multicatalytic endopeptidase complex chain 7; Proteasome chain 7; Proteasome subunit beta-1i; Really interesting new gene 12 protein", "protein_names_refseq": "low molecular mass protein 2; macropain chain 7; multicatalytic endopeptidase complex chain 7; proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional peptidase 2); proteasome catalytic subunit 1i; proteasome chain 7; proteasome subunit beta 6i; proteasome subunit beta 9; proteasome subunit beta type-9 precursor; proteasome subunit beta type-9; proteasome subunit beta-1i; proteasome subunit beta1i; proteasome-related gene 2; really interesting new gene 12 protein", "tax_id": 9606, "disease": "lymphoma (Disease Ontology:DOID:0060058); proteasome-associated autoinflammatory syndrome 3 (Disease Ontology:DOID:0060916); colorectal carcinoma (Disease Ontology:DOID:0080199); adult respiratory distress syndrome (Disease Ontology:DOID:11394); vitiligo (Disease Ontology:DOID:12306); Huntington's disease (Disease Ontology:DOID:12858); peptic esophagitis (Disease Ontology:DOID:13976); multiple sclerosis (Disease Ontology:DOID:2377); breast carcinoma (Disease Ontology:DOID:3459); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); renal cell carcinoma (Disease Ontology:DOID:4450); ankylosing spondylitis (Disease Ontology:DOID:7147); autoimmune thyroiditis (Disease Ontology:DOID:7188); oncocytic carcinoma of the thyroid (Disease Ontology:DOID:8161); psoriasis (Disease Ontology:DOID:8893); proteasome-associated autoinflammatory syndrome 6 (MONDO:MONDO:0968983)", "pathway": " (hsa:5698); (R-HSA-1236974); (R-HSA-1236978); (R-HSA-9907900); (R-HSA-9912633)", "pathway_count": 5, "publication_count": 127, "publication_id_list": "10924276;10973495;11237011;11350924;11493458;11717192;12061891;1429565;1453454;14550573;15501285;15592474;15831487;15907481;15944226;16251969;16818754;16957778;16990800;17142736;17189198;17262812;17540904;17948026;18249105;18692471;18694960;19217269;1922385;19317650;19490896;19608861;20028659;20471946;22153078;22261389;23481700;23613522;24366607;24714562;25083866;25418920;25502872;25576301;26154972;26375851;26524591;26728094;26758079;26992070;27846572;27862975;27920218;28228285;28263418;28442575;28467828;28482675;28514659;28598414;28832583;28834231;28855257;28904123;29242379;29314611;29331515;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30379171;30429286;30484775;30779550;31154438;31217245;31844290;32157095;32350084;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33392160;33592498;33633747;33717175;33727065;33912179;33936100;33968037;34078123;34087483;34171305;34357683;34509645;34819510;34932366;35051231;35251023;35318648;35561310;35580925;36010968;36284347;37116292;37433777;37762439;37938771;37944578;40914422;7743181;7829535;8163024;8458375;8568858;8663318;9003765", "class_list": "", "function": "Component of the proteasome, a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity., [UniProtKB, UniProtKB, UniProtKB]; Deciphering the tumor-suppressive role of PSMB9 in melanoma through multi-omics and single-cell transcriptome analyses., [RefSeq, PubMed]; Immunohistochemical Identification and Assessment of the Location of Immunoproteasome Subunits LMP2 and LMP7 in Acquired Cholesteatoma. Publication Status: Online-Only, [RefSeq, PubMed]; Immunoproteasome-specific subunit PSMB9 induction is required to regulate cellular proteostasis upon mitochondrial dysfunction. Publication Status: Online-Only, [RefSeq, PubMed]; The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH (PubMed:33727065, PubMed:34819510). The proteasome has an ATP-dependent proteolytic activity. This subunit is involved in antigen processing to generate class I binding peptides. Replacement of PSMB6 by PSMB9 increases the capacity of the immunoproteasome to cleave model peptides after hydrophobic and basic residues., [UniProtKB, PubMed, PubMed, PubMed]; The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is located in the class II region of the MHC (major histocompatibility complex). Expression of this gene is induced by gamma interferon and this gene product replaces catalytic subunit 1 (proteasome beta 6 subunit) in the immunoproteasome. Proteolytic processing is required to generate a mature subunit. [provided by RefSeq, Mar 2010]., [RefSeq]; Variants in PSMB9 and FGR differentially affect Parkinson's disease risk in GBA and LRRK2 mutation carriers., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "diagnostic", "glycan_count": 1, "disease_count": 16, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B0V0T1;Q16523;Q5JNW4", "ec_number_list": [ { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "type": "external" } ], "go_molecular_function": "GO:0004175 endopeptidase activity;GO:0004298 threonine-type endopeptidase activity", "go_cellular_component": "GO:0019774 proteasome core complex, beta-subunit complex;GO:1990111 spermatoproteasome complex;GO:0005634 nucleus;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0045061 thymic T cell selection;GO:0045063 T-helper 1 cell differentiation;GO:0043374 CD8-positive, alpha-beta T cell differentiation;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0032760 positive regulation of tumor necrosis factor production", "synthesized_glycan_count": 0, "hit_score": 13.0, "record_id": "P28065-1", "record_type": "protein", "filter_code": "1000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N9W8-1", "uniprot_id": [ { "id": "GAR2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N9W8", "type": "external" } ], "mass": 47076.0, "length": 422, "protein_name": "Golgi-associated RAB2 interactor protein 2", "gene_name": "GARIN2", "organism": "Human", "refseq_name": "Golgi-associated RAB2 interactor protein 2 isoform 2", "refseq_ac": [ { "id": "NP_775797", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775797", "type": "external" } ], "gene_names_uniprotkb": "GARIN2; C14orf54; FAM71D", "gene_names_refseq": "C14orf54; FAM71D; GARI-L1; GARI-L2; GARIN2", "protein_names_uniprotkb": "Golgi-associated RAB2 interactor protein 2", "protein_names_refseq": "Golgi associated RAB2 interactor protein 2; Golgi-associated RAB2 interactor protein 2 isoform 2; family with sequence similarity 71 member D; protein FAM71D", "tax_id": 9606, "disease": "", "pathway": " (hsa:161142)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;24488012;29025071;30379171;35051231;35580925;37992210;38489045", "class_list": "", "function": "Deleterious variant in FAM71D cause male infertility with asthenoteratospermia. Publication Status: Online-Only, [RefSeq, PubMed]; FAM71D is dispensable for spermatogenesis and male fertility in mice., [RefSeq, PubMed]; Our results showed that FAM71D was exclusively expressed in the testis in an age-dependent manner. FAM71D expression exhibited dynamic change in the cytoplasm of spermatids during spermiogenesis and was finally retained in sperm flagella. FAM71D could interact with calmodulin., [RefSeq, PubMed]; Seems to play a role in sperm motility., [UniProtKB, PubMed]; The unique in-frame MPP5-FAM71D fusion product is important for proliferation of PC346C cells., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 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": "Q86VN4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0097225 sperm midpiece;GO:0061827 sperm head", "go_biological_process": "GO:0030317 flagellated sperm motility", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q8N9W8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49321-1", "uniprot_id": [ { "id": "NASP_HUMAN", "url": "https://www.uniprot.org/uniprot/P49321", "type": "external" } ], "mass": 85238.0, "length": 788, "protein_name": "Nuclear autoantigenic sperm protein", "gene_name": "NASP", "organism": "Human", "refseq_name": "nuclear autoantigenic sperm protein isoform 4", "refseq_ac": [ { "id": "NP_001182122", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182122", "type": "external" } ], "gene_names_uniprotkb": "NASP", "gene_names_refseq": "FLB7527; HMDRA1; NASP; PRO1999", "protein_names_uniprotkb": "Nuclear autoantigenic sperm protein; NASP", "protein_names_refseq": "NASP histone chaperone; histone H1-binding protein; nuclear autoantigenic sperm protein (histone-binding); nuclear autoantigenic sperm protein isoform 4", "tax_id": 9606, "disease": "ovarian cancer (Disease Ontology:DOID:2394)", "pathway": " (hsa:4678)", "pathway_count": 1, "publication_count": 117, "publication_id_list": "10931132;11237011;1426632;15302935;16964243;17081983;17287340;17322306;17525332;18077418;18452278;18669648;18991276;19413330;19608861;19651622;19664994;19690332;20068231;21406692;22195965;22223895;22544926;23186163;23301498;24275569;24397554;24714562;24715725;25114211;25576301;25645385;25880248;26154972;26811146;26853435;26992070;27600516;27618665;27846572;27862975;28228285;28832583;28834231;28904123;29237092;29242379;29351928;29493099;29557506;30192525;30379171;30429286;30620550;31217245;31373491;31492838;31844290;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32938750;32983136;33141586;33214551;33298915;33392160;33465208;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34357683;34405274;34509645;34561969;34725712;34932366;35008409;35051231;35132862;35138101;35254053;35318648;35494241;35561310;35580925;35705054;36010968;36012669;36241641;36284347;37938771;38443156;38605477;38665916;39531497;39534244;40307207;40914422;8724350", "class_list": "", "function": "Component of the histone chaperone network (PubMed:22195965). Binds and stabilizes histone H3-H4 not bound to chromatin to maintain a soluble reservoir and modulate degradation by chaperone-mediated autophagy (PubMed:22195965). Required for DNA replication, normal cell cycle progression and cell proliferation. Forms a cytoplasmic complex with HSP90 and H1 linker histones and stimulates HSP90 ATPase activity. NASP and H1 histone are subsequently released from the complex and translocate to the nucleus where the histone is released for binding to DNA., [UniProtKB, UniProtKB, PubMed]; Home Dust Mites Promote MUC5AC Hyper-Expression by Modulating the sNASP/TRAF6 Axis in the Airway Epithelium. Publication Status: Online-Only, [RefSeq, PubMed]; NASP gene contributes to autism by epigenetic dysregulation of neural and immune pathways. Publication Status: Online-Only, [RefSeq, PubMed]; Nuclear autoantigenic sperm protein facilitates glioblastoma progression and radioresistance by regulating the ANXA2/STAT3 axis., [RefSeq, PubMed]; Stabilizes soluble histone H3-H4., [UniProtKB, PubMed]; This gene encodes a H1 histone binding protein that is involved in transporting histones into the nucleus of dividing cells. Multiple isoforms are encoded by transcript variants of this gene. The somatic form is expressed in all mitotic cells, is localized to the nucleus, and is coupled to the cell cycle. The testicular form is expressed in embryonic tissues, tumor cells, and the testis. In male germ cells, this protein is localized to the cytoplasm of primary spermatocytes, the nucleus of spermatids, and the periacrosomal region of mature spermatozoa. [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": 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": 40, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 41, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 19, "binding_glycan_count": 0, "secondary_ac_list": "A8K6H2;B4DQP3;D3DQ07;F5H3J2;Q53GW5;Q5T622;Q5T625;Q96A69;Q9BTW2", "ec_number_list": [], "go_molecular_function": "GO:0044877 protein-containing complex binding;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000785 chromatin;GO:0032991 protein-containing complex", "go_biological_process": "GO:0015031 protein transport;GO:0006260 DNA replication;GO:0008584 male gonad development;GO:0006334 nucleosome assembly;GO:0006335 DNA replication-dependent chromatin assembly", "synthesized_glycan_count": 0, "hit_score": 13.9, "record_id": "P49321-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H6D7-1", "uniprot_id": [ { "id": "HAUS4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H6D7", "type": "external" } ], "mass": 42400.0, "length": 363, "protein_name": "HAUS augmin-like complex subunit 4", "gene_name": "HAUS4", "organism": "Human", "refseq_name": "HAUS augmin-like complex subunit 4 isoform 1", "refseq_ac": [ { "id": "NP_001159741", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159741", "type": "external" } ], "gene_names_uniprotkb": "HAUS4; C14orf94", "gene_names_refseq": "C14orf94; HAUS4", "protein_names_uniprotkb": "HAUS augmin-like complex subunit 4", "protein_names_refseq": "HAUS augmin-like complex subunit 4 isoform 1; homologous to Augmin subunits", "tax_id": 9606, "disease": "", "pathway": " (hsa:54930); (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": 135, "publication_id_list": "11076968;11237011;11956313;12207013;12221128;12364337;12852856;13678582;14580337;14654843;15498487;15705883;16357211;16462731;16890155;17574030;17646400;17719545;18037885;18378770;18477460;18521620;18566290;18615013;18694559;18801063;19004860;19081074;19369198;19427217;19940019;20230748;20308558;20399632;20558667;21273506;21347367;21422230;21548880;21565611;21620453;21725307;21792235;22094468;22179047;22365832;22433857;22641346;22653444;23141531;23141541;23253480;23348840;23400999;23481700;23530209;23747070;23769972;23789104;23921553;24053599;24089205;24231678;24469809;24714562;24982133;25047611;25313408;25418920;25532896;25880248;26154972;26375851;26728094;26811146;26929215;26992070;27846572;27862975;27920218;28063628;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30410026;30429286;30524438;30723163;31154438;31217245;31530632;31844290;31848261;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33402344;33691108;33717175;33912179;33968037;34087483;34171305;34932366;35051231;35251023;35318648;35580925;36010968;36284347;39531497;7769006;7790358;8838651", "class_list": "", "function": "Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex., [UniProtKB, PubMed, PubMed]; This gene encodes a subunit of the centrosome complex termed the human augmin complex. The encoded protein localizes to the spindle microtubules and may play a role in mitotic spindle assembly and maintenance of centrosome integrity during cell division. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 1. [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B7WP17;D3DS34;Q86T15;Q86T16;Q86U43;Q9NX59", "ec_number_list": [], "go_molecular_function": "GO:0051011 microtubule minus-end binding", "go_cellular_component": "GO:0005813 centrosome;GO:0005829 cytosol;GO:0070652 HAUS complex;GO:1990498 mitotic spindle microtubule", "go_biological_process": "GO:0010968 regulation of microtubule nucleation;GO:0051301 cell division;GO:0007098 centrosome cycle;GO:0051225 spindle assembly", "synthesized_glycan_count": 0, "hit_score": 13.8, "record_id": "Q9H6D7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULV5-1", "uniprot_id": [ { "id": "HSF4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULV5", "type": "external" } ], "mass": 53011.0, "length": 492, "protein_name": "Heat shock factor protein 4", "gene_name": "HSF4", "organism": "Human", "refseq_name": "heat shock factor protein 4 isoform b", "refseq_ac": [ { "id": "NP_001035757", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035757", "type": "external" } ], "gene_names_uniprotkb": "HSF4", "gene_names_refseq": "CTM; CTRCT5; HSF4", "protein_names_uniprotkb": "Heat shock factor protein 4; HSF 4; HSTF 4; Heat shock transcription factor 4; hHSF4", "protein_names_refseq": "HSF 4; HSTF 4; hHSF4; heat shock factor protein 4 isoform b; heat shock factor protein 4", "tax_id": 9606, "disease": "cataract 5 multiple types (Disease Ontology:DOID:0110255); neurodegenerative disease (Disease Ontology:DOID:1289); cataract (Disease Ontology:DOID:83)", "pathway": " (hsa:3299)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "10488131;11237011;12089525;15277496;15308659;16371476;16581800;16876512;19182255;22587838;23145062;23507146;25505266;25645385;28832583;28981088;29242379;29454088;30143024;30379171;32157095;32387766;33298915;33592498;34345029;35051231;35580925;38420805;8972228", "class_list": "", "function": "HMOX-1, an anti-oxidase, is a bona fide transcriptional target gene of HSF4 in HLECs (human lens epithelial cells). HSF4 directly binds to the HSE element in HMOX-1 promoter to mediate its mRNA transcription and protein accumulation., [RefSeq, PubMed]; HSF4 binds to alphaB-crystallin, Hsp70, and Hsp82 promoters and has a role in interacting with the canonical heat shock element of the alphaB-crystallin gene, [RefSeq, PubMed]; Heat-shock transcription factor that specifically binds heat shock promoter elements (HSE) (PubMed:22587838, PubMed:23507146). Required for denucleation and organelle rupture and degradation that occur during eye lens terminal differentiation, when fiber cells that compose the lens degrade all membrane-bound organelles in order to provide lens with transparency to allow the passage of light (By similarity). In this process, may regulate denucleation of lens fiber cells in part by activating DNASE2B transcription (By similarity). May be involved in DNA repair through the transcriptional regulation of RAD51 (PubMed:22587838). May up-regulate p53/TP53 protein in eye lens fiber cells, possibly through protein stabilization (PubMed:28981088). In the eye lens, controls the expression of alpha-crystallin B chain/CRYAB and consequently may be involved in the regulation of lysosomal acidification (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Heat-shock transcription factors (HSFs) activate heat-shock response genes under conditions of heat or other stresses. HSF4 lacks the carboxyl-terminal hydrophobic repeat which is shared among all vertebrate HSFs and has been suggested to be involved in the negative regulation of DNA binding activity. Two alternatively spliced transcripts encoding distinct isoforms and possessing different transcriptional activity have been described. [provided by RefSeq, Jul 2008]., [RefSeq]; MiR-330-5p Suppress Cell Growth and Invasion via Disrupting HSF4-mediated MACC1/STAT3 Pathway in Colorectal Cancer., [RefSeq, PubMed]; Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract. . We suggest that HSF4 is critical to lens development., [RefSeq, PubMed]; The results expand the spectrum of HSF4 mutations causing congenital cataracts. Publication Status: Online-Only, [RefSeq, PubMed]; This is the first report describing association of an autosomal recessive cataract with the HSF4 locus on 16q21-q22.1 and the first description of HSF4 splice variants, [RefSeq, PubMed]; Transcriptional activator., [UniProtKB, PubMed, PubMed]; Transcriptional repressor., [UniProtKB, PubMed]; Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts., [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": 2, "reported_glycation": 0, "reported_snv": 11, "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": "Q99472;Q9ULV6", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0042802 identical protein 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:0019903 protein phosphatase binding", "go_cellular_component": "GO:0005634 nucleus;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:0070306 lens fiber cell differentiation", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q9ULV5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N128-1", "uniprot_id": [ { "id": "F177A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N128", "type": "external" } ], "mass": 23757.0, "length": 213, "protein_name": "Protein FAM177A1", "gene_name": "FAM177A1", "organism": "Human", "refseq_name": "protein FAM177A1 isoform 2", "refseq_ac": [ { "id": "NP_001072987", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001072987", "type": "external" } ], "gene_names_uniprotkb": "FAM177A1; C14orf24", "gene_names_refseq": "C14orf24; FAM177A1; NEDWMG", "protein_names_uniprotkb": "Protein FAM177A1", "protein_names_refseq": "protein FAM177A1 isoform 2; protein FAM177A1", "tax_id": 9606, "disease": "neurodevelopmental disorder with white matter abnormalities and gait disturbance (MONDO:MONDO:0976264)", "pathway": " (hsa:283635)", "pathway_count": 1, "publication_count": 51, "publication_id_list": "11237011;18088087;18669648;19651622;19663910;19690332;20166139;22424782;23481700;25558065;25645385;26375851;26992070;27846572;28228285;28514659;28832583;28834231;29242379;29557506;29786170;30315122;30524438;30779550;31222486;31844290;31848261;31937595;32157095;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33936100;33968037;33981976;34087483;34405274;34509645;34799425;35051231;35561310;35580925;36010968;36241641;38767059;39894887", "class_list": "", "function": "FAM177A1 Inhibits IL-1beta-Induced Signaling by Impairing TRAF6-Ubc13 Association., [RefSeq, PubMed]; Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder., [RefSeq, PubMed]; May act as a negative regulator of the IL-1beta immunogenic cascade., [UniProtKB, PubMed]; Remarkable repression of c14orf24 by miR124a was detected during neurogenesis., [RefSeq, PubMed]; This gene encodes a member of a conserved protein family. Alternative splicing results in multiple transcript variants. This gene is thought to be associated with susceptibility to juvenile idiopathic arthritis. [provided by RefSeq, Apr 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "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": "Q68CT2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005794 Golgi apparatus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q8N128-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P09488-1", "uniprot_id": [ { "id": "GSTM1_HUMAN", "url": "https://www.uniprot.org/uniprot/P09488", "type": "external" } ], "mass": 25712.0, "length": 218, "protein_name": "Glutathione S-transferase Mu 1", "gene_name": "GSTM1", "organism": "Human", "refseq_name": "glutathione S-transferase Mu 1 isoform 1", "refseq_ac": [ { "id": "NP_000552", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000552", "type": "external" } ], "gene_names_uniprotkb": "GSTM1; GST1", "gene_names_refseq": "GST1; GSTM1-1; GSTM1a-1a; GSTM1b-1b; GSTM1; GTH4; GTM1; H-B; MU-1; MU", "protein_names_uniprotkb": "Glutathione S-transferase Mu 1; 2.5.1.18; GST HB subunit 4; GST class-mu 1; GSTM1-1; GSTM1a-1a; GSTM1b-1b; GTH4", "protein_names_refseq": "GST HB subunit 4; GST class-mu 1; HB subunit 4; S-(hydroxyalkyl)glutathione lyase; glutathione S-alkyltransferase; glutathione S-aralkyltransferase; glutathione S-aryltransferase; glutathione S-transferase M1; glutathione S-transferase Mu 1 isoform 1", "tax_id": 9606, "disease": "pterygium (Disease Ontology:DOID:0002116); Stevens-Johnson syndrome (Disease Ontology:DOID:0050426); orofacial cleft (Disease Ontology:DOID:0050567); inflammatory bowel disease (Disease Ontology:DOID:0050589); diffuse large B-cell lymphoma (Disease Ontology:DOID:0050745); colorectal adenoma (Disease Ontology:DOID:0050860); colorectal adenocarcinoma (Disease Ontology:DOID:0050861); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); medulloblastoma (Disease Ontology:DOID:0050902); myelodysplastic syndrome (Disease Ontology:DOID:0050908); stroke (Disease Ontology:DOID:0051061); autism spectrum disorder (Disease Ontology:DOID:0060041); pre-malignant neoplasm (Disease Ontology:DOID:0060071); drug allergy (Disease Ontology:DOID:0060500); alcohol-associated liver disease (Disease Ontology:DOID:0070658); hepatic veno-occlusive disease (Disease Ontology:DOID:0080177); colorectal carcinoma (Disease Ontology:DOID:0080199); erythema nodosum (Disease Ontology:DOID:0080750); graft-versus-host disease (Disease Ontology:DOID:0081267); osteonecrosis (Disease Ontology:DOID:10159); thalassemia (Disease Ontology:DOID:10241); prostate cancer (Disease Ontology:DOID:10283); asbestosis (Disease Ontology:DOID:10320); lymphoid leukemia (Disease Ontology:DOID:1037); esophageal atresia (Disease Ontology:DOID:10485); Hirschsprung's disease (Disease Ontology:DOID:10487); stomach cancer (Disease Ontology:DOID:10534); primary open angle glaucoma (Disease Ontology:DOID:1070); hypertension (Disease Ontology:DOID:10763); Kuhnt-Junius degeneration (Disease Ontology:DOID:10873); hypospadias (Disease Ontology:DOID:10892); urinary bladder cancer (Disease Ontology:DOID:11054); asphyxia neonatorum (Disease Ontology:DOID:11088); Human papillomavirus infectious disease (Disease Ontology:DOID:11166); bronchopulmonary dysplasia (Disease Ontology:DOID:11650); head and neck cancer (Disease Ontology:DOID:11934); allergic disease (Disease Ontology:DOID:1205); optic neuritis (Disease Ontology:DOID:1210); aplastic anemia (Disease Ontology:DOID:12449); autistic disorder (Disease Ontology:DOID:12849); lung cancer (Disease Ontology:DOID:1324); angle-closure glaucoma (Disease Ontology:DOID:13550); cholestasis (Disease Ontology:DOID:13580); Fanconi anemia (Disease Ontology:DOID:13636); exfoliation syndrome (Disease Ontology:DOID:13641); Parkinson's disease (Disease Ontology:DOID:14330); aggressive periodontitis (Disease Ontology:DOID:1474); cystic fibrosis (Disease Ontology:DOID:1485); urticaria (Disease Ontology:DOID:1555); acute chest syndrome (Disease Ontology:DOID:1584); keratosis (Disease Ontology:DOID:161); breast cancer (Disease Ontology:DOID:1612); congenital heart disease (Disease Ontology:DOID:1682); malignant mesothelioma (Disease Ontology:DOID:1790); ovary epithelial cancer (Disease Ontology:DOID:2152); multiple sclerosis (Disease Ontology:DOID:2377); larynx cancer (Disease Ontology:DOID:2596); transitional cell carcinoma (Disease Ontology:DOID:2671); asthma (Disease Ontology:DOID:2841); cervix carcinoma (Disease Ontology:DOID:2893); pulmonary tuberculosis (Disease Ontology:DOID:2957); adenocarcinoma (Disease Ontology:DOID:299); malignant astrocytoma (Disease Ontology:DOID:3069); high grade glioma (Disease Ontology:DOID:3070); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); gallbladder cancer (Disease Ontology:DOID:3121); porphyria cutanea tarda (Disease Ontology:DOID:3132); atopic dermatitis (Disease Ontology:DOID:3310); coronary artery disease (Disease Ontology:DOID:3393); toxic encephalopathy (Disease Ontology:DOID:3602); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); Lynch syndrome (Disease Ontology:DOID:3883); gastritis (Disease Ontology:DOID:4029); systemic scleroderma (Disease Ontology:DOID:418); cervical cancer (Disease Ontology:DOID:4362); macular degeneration (Disease Ontology:DOID:4448); renal cell carcinoma (Disease Ontology:DOID:4450); movement disease (Disease Ontology:DOID:480); small intestine adenocarcinoma (Disease Ontology:DOID:4906); esophagus adenocarcinoma (Disease Ontology:DOID:4914); cholangiocarcinoma (Disease Ontology:DOID:4947); esophageal cancer (Disease Ontology:DOID:5041); liver cirrhosis (Disease Ontology:DOID:5082); schizophrenia (Disease Ontology:DOID:5419); oral submucous fibrosis (Disease Ontology:DOID:5773); leukopenia (Disease Ontology:DOID:615); hepatocellular carcinoma (Disease Ontology:DOID:684); rheumatoid arthritis (Disease Ontology:DOID:7148); end stage renal disease (Disease Ontology:DOID:783); periodontitis (Disease Ontology:DOID:824); cataract (Disease Ontology:DOID:83); lung disease (Disease Ontology:DOID:850); Hodgkin's lymphoma (Disease Ontology:DOID:8567); infectious mononucleosis (Disease Ontology:DOID:8568); ulcerative colitis (Disease Ontology:DOID:8577); oral cavity cancer (Disease Ontology:DOID:8618); myeloid leukemia (Disease Ontology:DOID:8692); Crohn's disease (Disease Ontology:DOID:8778); skin melanoma (Disease Ontology:DOID:8923); diabetic retinopathy (Disease Ontology:DOID:8947); polycythemia vera (Disease Ontology:DOID:8997); systemic lupus erythematosus (Disease Ontology:DOID:9074); acute myeloid leukemia (Disease Ontology:DOID:9119); colorectal cancer (Disease Ontology:DOID:9256); nasopharynx carcinoma (Disease Ontology:DOID:9261); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); multiple myeloma (Disease Ontology:DOID:9538); oral mucosa leukoplakia (Disease Ontology:DOID:9655); senile cataract (Disease Ontology:DOID:9669); pulmonary emphysema (Disease Ontology:DOID:9675); type 1 diabetes mellitus (Disease Ontology:DOID:9744); acute lymphoblastic leukemia (Disease Ontology:DOID:9952); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:2944); (R-HSA-156590); (R-HSA-9748787); (R-HSA-9753281)", "pathway_count": 4, "publication_count": 147, "publication_id_list": "10329152;10587441;10741631;10783391;10840050;11237011;11271497;11327815;11714888;11904223;12042665;12211029;12435799;12473676;12627223;12697733;1420361;14742434;15747503;15850391;16081649;16298388;16530731;16548513;16696573;16717136;17301077;17627974;17924658;17996297;18232020;18357469;1846734;19463;197968;19842618;20083122;20085333;20190787;20216118;20937634;21046276;2110160;21106529;211390;21666065;21668448;21712391;21723252;22349737;22406294;22444596;22522127;23096567;23162467;23481700;2362832;23682772;23816837;24715725;24824603;24974183;2573352;25880248;25892735;26049587;26067475;26154972;26238318;27397612;27846572;27862975;28063628;28218747;28228285;28514659;28832583;29242379;29482072;29493099;29557506;29632046;30315122;30410026;30429286;30524438;30987408;31154438;3174634;31844290;31848261;32161166;32350084;32357974;32387766;32472168;32488085;32897882;32938616;32983136;3372534;3395122;33968037;3419925;34509645;34932366;35051231;35154160;36284347;3770744;37938771;3864155;39044272;39063019;39068558;39433861;39476807;3979555;4768551;5767308;657528;6950087;6989049;70646;7469630;7822249;8182750;8203914;8226881;8317488;8331657;8431482;8471052;8670112;8703034;8812420;8813074;9024171;9080;9084911;9099726;9132023;9278457;942489;9551553;9839448;9930979", "class_list": "", "function": "Association of Glutathione Transferase M1, T1, P1 and A1 Gene Polymorphism and Susceptibility to IgA Vasculitis. Publication Status: Online-Only, [RefSeq, PubMed]; Associations of GST Gene Polymorphisms and GST Enzyme Activity with the Development of Noise-Induced Hearing Loss in Chinese Han Males., [RefSeq, PubMed]; Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Involved in the formation of glutathione conjugates of both prostaglandin A2 (PGA2) and prostaglandin J2 (PGJ2) (PubMed:9084911). Participates in the formation of novel hepoxilin regioisomers (PubMed:21046276)., [UniProtKB, PubMed, PubMed, PubMed]; Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Null mutations of this class mu gene have been linked with an increase in a number of cancers, likely due to an increased susceptibility to environmental toxins and carcinogens. Multiple protein isoforms are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Exploring the impact of GSTM1 as a novel molecular determinant of survival in head and neck cancer patients of African descent. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic Polymorphisms in Glutathione S-Transferase (GST) Gene and Their Correlation with Toxicity of Chemotherapy in Breast Cancer Patients. Publication Status: Online-Only, [RefSeq, PubMed]; The moderation effect of GSTM1/GSTT1 gene polymorphisms on the association of sperm mitochondrial DNA copy number and sperm mobility. 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": 6, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 114, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5GHG0;Q6FH88;Q8TC98;Q9UC96", "ec_number_list": [ { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" }, { "id": "5.2.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.2", "type": "external" }, { "id": "5.3.99.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.2", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.3.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.-", "type": "external" }, { "id": "1.20.4.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.20.4.2", "type": "external" }, { "id": "1.8.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1", "type": "external" }, { "id": "4.4.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:4.4.1.20", "type": "external" } ], "go_molecular_function": "GO:0004364 glutathione transferase activity;GO:0043295 glutathione binding;GO:0019899 enzyme binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0042178 xenobiotic catabolic process;GO:0006693 prostaglandin metabolic process;GO:1901687 glutathione derivative biosynthetic process;GO:0051122 hepoxilin biosynthetic process;GO:0006749 glutathione metabolic process", "synthesized_glycan_count": 0, "hit_score": 14.8, "record_id": "P09488-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16836-1", "uniprot_id": [ { "id": "HCDH_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16836", "type": "external" } ], "mass": 34294.0, "length": 314, "protein_name": "Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial", "gene_name": "HADH", "organism": "Human", "refseq_name": "hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 2 precursor", "refseq_ac": [ { "id": "NP_005318", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005318", "type": "external" } ], "gene_names_uniprotkb": "HADH; HAD1; HADHSC; HAD; SCHAD", "gene_names_refseq": "HADH1; HADHSC; HADH; HAD; HCDH; HHF4; MSCHAD; SCHAD", "protein_names_uniprotkb": "Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial; 1.1.1.35; HCDH; Medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase; Short-chain 3-hydroxyacyl-CoA dehydrogenase", "protein_names_refseq": "L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain; hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 2 precursor; hydroxyacyl-coenzyme A dehydrogenase, mitochondrial; medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase; short-chain 3-hydroxyacyl-CoA dehydrogenase; testis secretory sperm-binding protein Li 203a", "tax_id": 9606, "disease": "familial hyperinsulinemic hypoglycemia 4 (Disease Ontology:DOID:0070215); myocardial infarction (Disease Ontology:DOID:5844); obesity (Disease Ontology:DOID:9970); 3-hydroxyacyl-CoA dehydrogenase deficiency (MONDO:MONDO:0017715)", "pathway": " (hsa:3033); (R-HSA-77310); (R-HSA-77346); (R-HSA-77348); (R-HSA-77350); (R-HSA-77352); (R-HSA-9837999)", "pathway_count": 7, "publication_count": 112, "publication_id_list": "10231530;10840044;11237011;11470804;11489939;11772874;11923310;12198491;12654921;13295225;13295248;14623864;1540149;1550553;15522782;15870080;16115876;16176262;16725361;17101804;17278971;17297443;17579211;18192838;18479707;19608861;19841671;22262461;22544926;22710082;23201127;23481700;23931759;24315374;24520911;24715725;25418920;25576301;25645385;26154972;26374642;26504172;26758079;26923599;26929215;26992070;27452731;27496948;27642048;27846572;28218747;28228285;28377575;28396416;28411811;28510447;28514659;28832583;28904123;29192674;29242379;29301859;29314611;29331515;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29789417;29932645;30120231;30315122;31092671;31154438;31217245;31222486;31327635;31695197;31844290;31848261;32157095;32350084;32387766;32502341;32938616;32983136;33141586;33257573;33592498;33881965;33912179;34357683;34704252;34736508;34943861;35051231;35580925;35870450;3597357;36239258;36284347;36629048;37217939;37938771;38665916;40914422;7623837;7907320;8687463", "class_list": "", "function": "Abnormal expression of HADH, an enzyme of fatty acid oxidation, affects tumor development and prognosis (Review). Review article, [RefSeq, PubMed]; Differentially expressed genes PCCA, ECHS1, and HADH are potential prognostic biomarkers for gastric cancer., [RefSeq, PubMed]; Genetic pathogenesis, diagnosis, and treatment of short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Mitochondrial fatty acid beta-oxidation enzyme that catalyzes the third step of the beta-oxidation cycle for medium and short-chain 3-hydroxy fatty acyl-CoAs (C4 to C10). Plays a role in the control of insulin secretion by inhibiting the activation of glutamate dehydrogenase 1 (GLUD1), an enzyme that has an important role in regulating amino acid-induced insulin secretion. Plays a role in the maintenance of normal spermatogenesis through the reduction of fatty acid accumulation in the testes., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; This gene is a member of the 3-hydroxyacyl-CoA dehydrogenase gene family. The encoded protein functions in the mitochondrial matrix to catalyze the oxidation of straight-chain 3-hydroxyacyl-CoAs as part of the beta-oxidation pathway. Its enzymatic activity is highest with medium-chain-length fatty acids. Mutations in this gene cause one form of familial hyperinsulinemic hypoglycemia. The human genome contains a related pseudogene of this gene on chromosome 15. [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": 3, "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": "J3KQ17;O00324;O00397;O00753;Q4W5B4", "ec_number_list": [ { "id": "2.3.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.1", "type": "external" }, { "id": "7.1.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.2", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "1.4.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.1.3", "type": "external" }, { "id": "1.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.3", "type": "external" }, { "id": "6.4.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.4.1.3", "type": "external" }, { "id": "7.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.2.2", "type": "external" }, { "id": "4.2.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.2", "type": "external" }, { "id": "1.2.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.4.1", "type": "external" }, { "id": "1.8.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.1.4", "type": "external" }, { "id": "5.6.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.7", "type": "external" }, { "id": "2.3.1.168", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.168", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.37", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.37", "type": "external" }, { "id": "4.98.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:4.98.1.1", "type": "external" }, { "id": "1.1.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.38", "type": "external" }, { "id": "2.3.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.9", "type": "external" }, { "id": "1.2.1.36", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.36", "type": "external" }, { "id": "1.7.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.7.1.-", "type": "external" }, { "id": "1.2.1.28", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.28", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "1.1.1.37", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.37", "type": "external" }, { "id": "4.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.17", "type": "external" }, { "id": "1.1.1.211", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.211", "type": "external" }, { "id": "5.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.8", "type": "external" }, { "id": "1.3.8.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.1", "type": "external" }, { "id": "1.3.8.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.5", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "1.1.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.41", "type": "external" }, { "id": "2.3.3.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.10", "type": "external" }, { "id": "2.8.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.3.5", "type": "external" }, { "id": "3.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.1", "type": "external" }, { "id": "1.2.4.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.4.2", "type": "external" }, { "id": "1.1.1.30", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.30", "type": "external" }, { "id": "1.1.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.35", "type": "external" }, { "id": "5.3.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.21", "type": "external" }, { "id": "2.7.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "3.4.21.92", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.92", "type": "external" }, { "id": "2.7.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.23", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "6.2.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.4", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "1.1.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.62", "type": "external" }, { "id": "1.1.1.239", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.239", "type": "external" }, { "id": "1.1.1.178", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.178", "type": "external" }, { "id": "1.1.1.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.53", "type": "external" }, { "id": "1.1.1.159", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.159", "type": "external" }, { "id": "4.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.3", "type": "external" }, { "id": "6.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.5", "type": "external" }, { "id": "2.3.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.41", "type": "external" } ], "go_molecular_function": "GO:0042802 identical protein binding;GO:0016740 transferase activity;GO:0070403 NAD+ binding;GO:0003857 (3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity;GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006635 fatty acid beta-oxidation;GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0046676 negative regulation of insulin secretion;GO:0050796 regulation of insulin secretion", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "Q16836-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6J9G0-1", "uniprot_id": [ { "id": "STYK1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6J9G0", "type": "external" } ], "mass": 47577.0, "length": 422, "protein_name": "Tyrosine-protein kinase STYK1", "gene_name": "STYK1", "organism": "Human", "refseq_name": "tyrosine-protein kinase STYK1", "refseq_ac": [ { "id": "NP_060893", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060893", "type": "external" } ], "gene_names_uniprotkb": "STYK1; NOK", "gene_names_refseq": "NOK; STYK1; SuRTK106", "protein_names_uniprotkb": "Tyrosine-protein kinase STYK1; 2.7.10.2; Novel oncogene with kinase domain; Protein PK-unique; Serine/threonine/tyrosine kinase 1", "protein_names_refseq": "novel oncogene with kinase domain; protein PK-unique; tyrosine-protein kinase STYK1", "tax_id": 9606, "disease": "", "pathway": " (hsa:55359)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11237011;12471243;12841579;15150103;17298854;17344846;26992070;28218747;29242379;29437277;30315122;32357974;32572882;32871210;33298915;33912179;33968037;34171305;34357683;35051231;35970044", "class_list": "", "function": "Cloning and characterization; mapped to chromosome 12p13; widely expressed in human tissues, [RefSeq, PubMed]; Induction of chronic lymphocytic leukemia-like disease in STYK1/NOK transgenic mice., [RefSeq, PubMed]; NOK associates with c-Src and promotes c-Src-induced STAT3 activation and cell proliferation., [RefSeq, PubMed]; NOK mRNA was highly expressed even at the early clinical stages of the cancer. These results suggest that NOK mRNA might be a new tool to support the diagnosis of lung cancers, irrespective of the clinical stages., [RefSeq, PubMed]; Probable tyrosine protein-kinase, which has strong transforming capabilities on a variety of cell lines. When overexpressed, it can also induce tumor cell invasion as well as metastasis in distant organs. May act by activating both MAP kinase and phosphatidylinositol 3'-kinases (PI3K) pathways (By similarity)., [UniProtKB]; Receptor protein tyrosine kinases, like STYK1, play important roles in diverse cellular and developmental processes, such as cell proliferation, differentiation, and survival (Liu et al., 2004 [PubMed 15150103]).[supplied by OMIM, Mar 2008]., [RefSeq]; STYK1 promotes the malignant progression of laryngeal squamous cell carcinoma through targeting TGF-beta1., [RefSeq, PubMed]; SuRTK106/NOK/STYK1 was first identified, classified and shown to have predicted pseudokinase domain. 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": 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": "B2R9T2;Q52LR3;Q9BXY2;Q9NSH1", "ec_number_list": [ { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" } ], "go_molecular_function": "GO:0004715 non-membrane spanning protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0004672 protein kinase activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q6J9G0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T013-1", "uniprot_id": [ { "id": "HYI_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T013", "type": "external" } ], "mass": 30406.0, "length": 277, "protein_name": "Putative hydroxypyruvate isomerase", "gene_name": "HYI", "organism": "Human", "refseq_name": "putative hydroxypyruvate isomerase isoform 3", "refseq_ac": [ { "id": "NP_001177809", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177809", "type": "external" } ], "gene_names_uniprotkb": "HYI; HT036; SB156", "gene_names_refseq": "HT036; HYI", "protein_names_uniprotkb": "Putative hydroxypyruvate isomerase; 5.3.1.22; Endothelial cell apoptosis protein E-CE1", "protein_names_refseq": "endothelial cell apoptosis protein E-CE1; hydroxypyruvate isomerase homolog; putative hydroxypyruvate isomerase isoform 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:81888)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;19722193;22490543;29242379;29557506;31844290;32488085;33392160;33968037;34171305;35051231", "class_list": "", "function": "Catalyzes the reversible isomerization between hydroxypyruvate and 2-hydroxy-3-oxopropanoate (also termed tartronate semialdehyde)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; May catalyzes the reversible isomerization between hydroxypyruvate and 2-hydroxy-3-oxopropanoate (also termed tartronate semialdehyde)., [UniProtKB, UniProtKB]; Protein HYI may closely bind with protein P311 by an alpha helix in hypertrophic scar fibroblasts., [RefSeq, PubMed]; This gene encodes a putative hydroxypyruvate isomerase, which likely catalyzes the conversion of hydroxypyruvate to 2-hydroxy-3-oxopropanoate, and may be involved in carbohydrate transport and metabolism. Alternatively spliced transcript variants encoding different 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "D3DPX4;D3DPX5;Q5Q9A2;Q7Z778;Q96S83;Q9BZR3;Q9BZR4", "ec_number_list": [ { "id": "5.3.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.1.22", "type": "external" } ], "go_molecular_function": "GO:0008903 hydroxypyruvate isomerase activity;GO:0016853 isomerase activity", "go_cellular_component": "", "go_biological_process": "GO:0046487 glyoxylate metabolic process", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q5T013-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P07814-1", "uniprot_id": [ { "id": "SYEP_HUMAN", "url": "https://www.uniprot.org/uniprot/P07814", "type": "external" } ], "mass": 170591.0, "length": 1512, "protein_name": "Bifunctional glutamate/proline--tRNA ligase", "gene_name": "EPRS1", "organism": "Human", "refseq_name": "bifunctional glutamate/proline--tRNA ligase", "refseq_ac": [ { "id": "NP_004437", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004437", "type": "external" } ], "gene_names_uniprotkb": "EPRS1; EPRS; GLNS; PARS; PIG32; QARS; QPRS", "gene_names_refseq": "EARS; EPRS1; EPRS; GLUPRORS; HLD15; PARS; PIG32; QARS; QPRS", "protein_names_uniprotkb": "Bifunctional glutamate/proline--tRNA ligase; Bifunctional aminoacyl-tRNA synthetase; Cell proliferation-inducing gene 32 protein; GluRS; Glutamatyl-prolyl-tRNA synthetase; Glutamyl-tRNA synthetase; Prolyl-tRNA synthetase", "protein_names_refseq": "bifunctional aminoacyl-tRNA synthetase; bifunctional glutamate/proline--tRNA ligase; cell proliferation-inducing gene 32 protein; glutamate tRNA ligase; glutamatyl-prolyl-tRNA synthetase; glutaminyl-tRNA synthetase; proliferation-inducing gene 32 protein; proliferation-inducing protein 32; proline-tRNA ligase; prolyl-tRNA synthetase", "tax_id": 9606, "disease": "hypomyelinating leukodystrophy 15 (Disease Ontology:DOID:0070398); cholangiocarcinoma (Disease Ontology:DOID:4947); pancreatitis (Disease Ontology:DOID:4989)", "pathway": " (hsa:2058); (R-HSA-2408522); (R-HSA-379716); (R-HSA-6782315); (R-HSA-9856649)", "pathway_count": 5, "publication_count": 285, "publication_id_list": "10.1101/2023.09.13.557529;10430867;10567402;10611221;10655586;10673502;10791971;10982862;11027153;11027551;11111046;11123902;11237011;11347887;11714285;11829477;11840323;11858721;11891324;11912130;11930005;12403464;12690580;1373391;14654843;14660560;14671330;14975237;15118077;15226305;15302935;15479637;15507434;1556743;15861136;15870694;15994936;16014379;16034366;16043508;16055448;16408927;16424344;16429158;16661668;16661782;16822840;16906134;16964243;1698554;17071714;17081983;17287340;17322306;1748288;1761529;17623675;17924679;18212344;18220336;18452278;18491316;18567810;18578522;18644867;18669648;18691976;18767875;19017811;19131329;19289464;19413330;19414587;19415658;19524539;19608861;19647514;19651622;19664994;19664995;19690332;1988429;20058876;20068231;20123966;20230923;20305658;20308323;20354154;20460180;20584901;21059936;21131277;21220307;21406692;21486943;21740066;21908771;21965087;22344696;22591353;22645359;22647378;22995836;23042678;23048041;23071094;23159739;23186163;23190890;23207919;23263184;23301498;23381944;23481700;23604283;24029068;24100331;24126054;24129315;24204302;24312579;24366607;24714562;24715725;24901367;25248477;25261850;25404562;25576301;25595898;25645385;25802875;25810538;25880248;25916855;26154972;26160102;26310293;26375851;26472928;26811146;26853435;26992070;27055666;27128622;27655845;27846572;27862975;27920218;28178239;28228285;28352266;28394346;28467828;28510447;28514659;28832583;28834231;28904123;29242379;29273753;29295999;29351928;29437277;29493099;29557506;29576217;29632711;29786170;30315122;30379171;30410026;30429286;30484775;30524438;30573663;30779550;30804224;30833945;31020640;31154438;31217245;31222486;31373491;31481669;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32636443;32870666;32897882;3290852;32938616;32983136;33123756;33141586;33214551;33298915;33392160;33465208;33537174;33592498;33633747;33691108;33717175;33744299;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34140478;34171305;34211107;34357683;34509645;34537243;34561969;34725712;34932366;35051231;35083852;35132862;35138101;35251023;35318648;35494241;35561310;35580925;35705054;36010968;36215666;36241641;36284347;36581221;36610787;36631435;37212275;37770430;37938771;38320721;38665916;38769304;39990658;40596516;40914422;4130389;5338216;6022858;656444;7118399;7654687;7958932;8052601;8078941;8188258;8336698;8428657;8449960;9199364;9278442;9353119;9421509;9430663;9431993;9440696;9560246;9676189;9760192;9851972;9973413", "class_list": "", "function": "Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a multifunctional aminoacyl-tRNA synthetase that catalyzes the aminoacylation of glutamic acid and proline tRNA species. Alternative splicing has been observed for this gene, but the full-length nature and biological validity of the variant have not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]; Disease-associated mutations in a bifunctional aminoacyl-tRNA synthetase gene elicit the integrated stress response., [RefSeq, PubMed]; Glutamyl-prolyl-tRNA synthetase (EPRS1) drives tubulointerstitial nephritis-induced fibrosis by enhancing T cell proliferation and activity., [RefSeq, PubMed]; Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m[6]A site accessibility. Publication Status: Online-Only, [RefSeq, PubMed]; Multifunctional protein which primarily functions within the aminoacyl-tRNA synthetase multienzyme complex, also known as multisynthetase complex. Within the complex it catalyzes the attachment of both L-glutamate and L-proline to their cognate tRNAs in a two-step reaction where the amino acid is first activated by ATP to form a covalent intermediate with AMP. Subsequently, the activated amino acid is transferred to the acceptor end of the cognate tRNA to form L-glutamyl-tRNA(Glu) and L-prolyl-tRNA(Pro) (PubMed:23263184, PubMed:24100331, PubMed:29576217, PubMed:3290852, PubMed:37212275). Upon interferon-gamma stimulation, EPRS1 undergoes phosphorylation, causing its dissociation from the aminoacyl-tRNA synthetase multienzyme complex. It is recruited to form the GAIT complex, which binds to stem loop-containing GAIT elements found in the 3'-UTR of various inflammatory mRNAs, such as ceruloplasmin. The GAIT complex inhibits the translation of these mRNAs, allowing interferon-gamma to redirect the function of EPRS1 from protein synthesis to translation inhibition in specific cell contexts (PubMed:15479637, PubMed:23071094). Furthermore, it can function as a downstream effector in the mTORC1 signaling pathway, by promoting the translocation of SLC27A1 from the cytoplasm to the plasma membrane where it mediates the uptake of long-chain fatty acid by adipocytes. Thereby, EPRS1 also plays a role in fat metabolism and more indirectly influences lifespan (PubMed:28178239)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Prolyl-tRNA synthetase as a novel therapeutic target in multiple myeloma. Erratum:[Blood Cancer J. 2023 Feb 7;13(1):24. doi: 10.1038/s41408-023-00793-y. PMID: 36746923] 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": 24, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 49, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 3, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "A0AVA9;B9EGH3;Q05BP6;Q05DF8;Q5DSM1;Q5H9S5;Q6PD57;Q86X73", "ec_number_list": [ { "id": "6.1.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.15", "type": "external" }, { "id": "6.1.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.17", "type": "external" }, { "id": "6.1.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.24", "type": "external" } ], "go_molecular_function": "GO:0004827 proline-tRNA ligase activity;GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0017101 aminoacyl-tRNA synthetase multienzyme complex", "go_biological_process": "GO:0006433 prolyl-tRNA aminoacylation;GO:0032869 cellular response to insulin stimulus;GO:0006418 tRNA aminoacylation for protein translation;GO:0017148 negative regulation of translation;GO:0071346 cellular response to type II interferon", "synthesized_glycan_count": 0, "hit_score": 29.9, "record_id": "P07814-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NB91-1", "uniprot_id": [ { "id": "FANCB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NB91", "type": "external" } ], "mass": 97726.0, "length": 859, "protein_name": "Fanconi anemia group B protein", "gene_name": "FANCB", "organism": "Human", "refseq_name": "Fanconi anemia group B protein isoform 1", "refseq_ac": [ { "id": "NP_001018123", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018123", "type": "external" } ], "gene_names_uniprotkb": "FANCB", "gene_names_refseq": "FA2; FAAP90; FAAP95; FAB; FACB; FANCB", "protein_names_uniprotkb": "Fanconi anemia group B protein; FAAP95; Fanconi anemia-associated polypeptide of 95 kDa; Protein FACB", "protein_names_refseq": "Fanconi anemia complementation group B; Fanconi anemia group B protein isoform 1; Fanconi anemia group B protein; Fanconi anemia-associated polypeptide of 95 kDa", "tax_id": 9606, "disease": "tongue squamous cell carcinoma (Disease Ontology:DOID:0050865); Fanconi anemia complementation group B (Disease Ontology:DOID:0111098); Angelman syndrome (Disease Ontology:DOID:1932); head and neck squamous cell carcinoma (Disease Ontology:DOID:5520)", "pathway": " (hsa:2187); (R-HSA-6783310); (R-HSA-9833482)", "pathway_count": 3, "publication_count": 218, "publication_id_list": "10082513;10348343;10400669;10620360;10626894;10648614;10848580;10866685;11096080;11134010;11152499;11156368;11237011;11238103;11238927;11239454;11278865;11313968;11337501;11350938;11438540;11500375;11781817;11909525;11939789;11985496;12231563;12397061;12882984;1373135;14585331;15229216;15299030;15502827;15572677;15737233;15752359;15907845;16116422;16179258;16179259;16373505;16431927;16600570;16679491;16717090;16916645;16943440;1695551;16982605;17079286;17196820;17289582;17412408;17460694;17938197;18082604;18096616;18174376;18835251;18931676;18957415;19111657;19229320;19416861;19561358;19589784;19596236;19710021;19733181;19804757;19838063;19995904;20102227;20347428;20347429;20385554;20395957;20519500;20603015;20603016;20603073;20670894;20671156;20685959;21072047;21123651;21294215;21464321;21518807;21636578;21701511;21764741;21937648;21978664;21994559;22214662;22258451;22287633;22396592;2247437;22510687;22692201;22986343;23033978;23084476;23229543;23325218;23698467;23723247;23732991;24076221;24347309;24389026;24623135;24623813;24659800;24726325;24753571;24905007;25430771;25500724;25576301;25645385;25653431;25848059;26432638;26446704;26488609;26716879;26817845;26992070;27208315;27269119;27423063;27600516;27974558;28069888;28167698;28228285;28281686;28765891;28832583;28904123;29170442;29175459;29193904;29231267;29242379;29348664;29393594;29394925;29395325;29440070;29491055;29501855;30174290;30315122;30770398;31031002;31154438;31244828;31844290;32093270;32157095;32357974;32387766;32716602;32801355;32897882;32938616;33141586;33298915;33592498;33691108;33808629;33911136;33936100;33968037;33981976;34171305;34174402;34185709;34509645;34974812;35051231;35230385;35580925;35685460;35947956;36172730;36215666;36241641;36712380;37127961;37217939;38253038;7491766;7515177;7545299;7565688;7693978;7737357;7903669;8576172;8576179;8661426;8810342;8910500;9034343;9079663;9442054;9521856;9528799;9687506;9737981;9819388;9920933", "class_list": "", "function": "DNA repair protein required for FANCD2 ubiquitination., [UniProtKB, PubMed]; Four single nucleotide polymorphisms were identified, three of which were located in untranslated regions of Fanconi anemia group B protein (FANCB) and predicted to be associated with normal function., [RefSeq, PubMed]; This gene encodes a member of the Fanconi anemia complementation group B. This protein is assembled into a nucleoprotein complex that is involved in the repair of DNA lesions. Mutations in this gene can cause chromosome instability and VACTERL syndrome with hydrocephalus. [provided by RefSeq, Apr 2016]., [RefSeq]; We identified a 9154 bp intragenic duplication in FANCB, covering the first coding exon 3 and the flanking regions. The duplicated allele gives rise to an aberrant transcript containing exon 3 duplication, predicted to introduce a stop codon in FANCB protein (p.A319*)., [RefSeq, PubMed]; [Association of CDH1, FANCB and APC Gene Polymorphisms with Lung Cancer Susceptibility in 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": 2, "mined_n_glycosites": 2, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 2, "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": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2RMZ4;Q7Z2U2;Q86XG1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0043240 Fanconi anaemia nuclear complex;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0000785 chromatin", "go_biological_process": "GO:2000042 negative regulation of double-strand break repair via homologous recombination;GO:0036297 interstrand cross-link repair;GO:1905168 positive regulation of double-strand break repair via homologous recombination;GO:1990414 replication-born double-strand break repair via sister chromatid exchange", "synthesized_glycan_count": 0, "hit_score": 22.3, "record_id": "Q8NB91-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100100000000.010.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9C0E4-1", "uniprot_id": [ { "id": "GRIP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9C0E4", "type": "external" } ], "mass": 112573.0, "length": 1043, "protein_name": "Glutamate receptor-interacting protein 2", "gene_name": "GRIP2", "organism": "Human", "refseq_name": "glutamate receptor-interacting protein 2", "refseq_ac": [ { "id": "NP_001073892", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073892", "type": "external" } ], "gene_names_uniprotkb": "GRIP2; KIAA1719", "gene_names_refseq": "ABP; GRIP2", "protein_names_uniprotkb": "Glutamate receptor-interacting protein 2; GRIP-2", "protein_names_refseq": "glutamate receptor-interacting protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:80852); (R-HSA-416993)", "pathway_count": 2, "publication_count": 9, "publication_id_list": "11237011;11641419;16055064;30379171;31844290;32387766;33141586;33298915;35051231", "class_list": "", "function": "May play a role as a localized scaffold for the assembly of a multiprotein signaling complex and as mediator of the trafficking of its binding partners at specific subcellular location in neurons., [UniProtKB]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 20, "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": "A0A087WU38;Q8TEH9;Q9H7H3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005737 cytoplasm", "go_biological_process": "GO:0098887 neurotransmitter receptor transport, endosome to postsynaptic membrane", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9C0E4-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P0J0-1", "uniprot_id": [ { "id": "NDUAD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P0J0", "type": "external" } ], "mass": 16698.0, "length": 144, "protein_name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13", "gene_name": "NDUFA13", "organism": "Human", "refseq_name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13", "refseq_ac": [ { "id": "NP_057049", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057049", "type": "external" } ], "gene_names_uniprotkb": "NDUFA13; CDA016; CGI-39; GRIM19", "gene_names_refseq": "B16.6; CDA016; CGI-39; GRIM-19; GRIM19; MC1DN28; NDUFA13", "protein_names_uniprotkb": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13; CI-B16.6; Cell death regulatory protein GRIM-19; Complex I-B16.6; GRIM-19; Gene associated with retinoic and IFN-induced mortality 19 protein; Gene associated with retinoic and interferon-induced mortality 19 protein; NADH-ubiquinone oxidoreductase B16.6 subunit", "protein_names_refseq": "CI-B16.6; NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13; NADH-ubiquinone oxidoreductase B16.6 subunit; cell death regulatory protein GRIM-19; cell death-regulatory protein GRIM19; complex I B16.6 subunit; complex I-B16.6; gene associated with retinoic and IFN-induced mortality 19 protein; gene associated with retinoic and interferon-induced mortality 19 protein", "tax_id": 9606, "disease": "nuclear type mitochondrial complex I deficiency 28 (Disease Ontology:DOID:0112095); Parkinson's disease (Disease Ontology:DOID:14330); cerebral infarction (Disease Ontology:DOID:3526); oncocytic carcinoma of the thyroid (Disease Ontology:DOID:8161)", "pathway": " (hsa:51079); (R-HSA-611105); (R-HSA-6799198); (R-HSA-9837999)", "pathway_count": 4, "publication_count": 161, "publication_id_list": "10327278;10924506;10931946;11220739;11237011;11695836;11923310;12042320;12163600;12198491;12231006;12611891;12628925;12837546;12867595;1327877;14623864;14741580;15059901;15104674;15250827;15367666;15522782;15753091;15841082;15870080;16115876;16230336;17033964;17101804;17297443;17308301;17579211;17616678;17928352;17936786;18287540;186667;19752196;19841671;20112406;20406883;20552642;20858599;21924235;22262461;22710082;23150584;23201127;23270816;23481700;23553477;23564345;23747254;23931759;239860;24191001;24315374;24366607;24520911;24714562;25418920;25469497;25505266;25564869;25576301;25645385;25678554;25901006;26154972;26375851;26504172;26728094;26811146;26923599;26929215;26992070;27496948;27499296;27600516;27626371;27642048;27846572;27862975;27920218;28063628;28218747;28228285;28377575;28396416;28832583;28834231;28860189;28904123;29242379;29301859;29393594;29437277;29493099;29508533;29557506;29632046;29786170;29932645;30120231;30315122;30410026;30429286;30833945;31154438;31217245;31222486;31327635;31530632;31666358;31695197;31844290;31848261;31866046;31998317;32157095;32320651;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33257573;33592498;33691108;33717175;33879611;33882309;33936100;33968037;33981976;34087483;34171305;34561969;34704252;34932366;34943861;35051231;35333655;35561310;35580925;35614220;35870450;36010968;36284347;36629048;37938771;38199007;38206868;38360073;4288886;7623837;9571201;9878551", "class_list": "", "function": "Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Involved in the interferon/all-trans-retinoic acid (IFN/RA) induced cell death. This apoptotic activity is inhibited by interaction with viral IRF1. Prevents the transactivation of STAT3 target genes. May play a role in CARD15-mediated innate mucosal responses and serve to regulate intestinal epithelial cell responses to microbes., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Complex I functions in the transfer of electrons from NADH to the respiratory chain. Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; GRIM-19 deficiency promotes macrophage polarization to the M1 phenotype partly through glycolysis in unexplained recurrent spontaneous abortiondagger., [RefSeq, PubMed]; GRIM-19 is required for electron transfer activity of complex I, and disruption of mitochondrial transmembrane potential by GRIM-19 mutants enhances the cells' sensitivity to apoptotic stimuli., [RefSeq, PubMed]; GRIM-19 suppresses constitutive STAT3-induced cellular transformation in vitro and in vivo by down-regulating the expression of a number of cellular genes involved in cell proliferation and apoptosis, [RefSeq, PubMed]; GRIM19 deficiency aggravates metabolic disorder and ovarian dysfunction in PCOS., [RefSeq, PubMed]; Results indicate that the high affinity between U95 early viral protein and GRIM-19 may be closely linked to the detrimental effect of HHV-6B infection on mitochondria., [RefSeq, PubMed]; This gene encodes a subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), which functions in the transfer of electrons from NADH to the respiratory chain. The protein is required for complex I assembly and electron transfer activity. The protein binds the signal transducers and activators of transcription 3 (STAT3) transcription factor, and can function as a tumor suppressor. The human protein purified from mitochondria migrates at approximately 16 kDa. Transcripts originating from an upstream promoter and capable of expressing a protein with a longer N-terminus have been found, but their biological validity has not been determined. [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": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DF76;K7EK58;Q6PKI0;Q9H2L3;Q9Y327", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0061133 endopeptidase activator activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0045039 protein insertion into mitochondrial inner membrane;GO:0071300 cellular response to retinoic acid;GO:0006915 apoptotic process;GO:0032981 mitochondrial respiratory chain complex I assembly;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 16.2, "record_id": "Q9P0J0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P43250-1", "uniprot_id": [ { "id": "GRK6_HUMAN", "url": "https://www.uniprot.org/uniprot/P43250", "type": "external" } ], "mass": 65991.0, "length": 576, "protein_name": "G protein-coupled receptor kinase 6", "gene_name": "GRK6", "organism": "Human", "refseq_name": "G protein-coupled receptor kinase 6 isoform C", "refseq_ac": [ { "id": "NP_001004105", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004105", "type": "external" } ], "gene_names_uniprotkb": "GRK6; GPRK6", "gene_names_refseq": "GPRK6; GRK6", "protein_names_uniprotkb": "G protein-coupled receptor kinase 6; 2.7.11.16; G protein-coupled receptor kinase GRK6", "protein_names_refseq": "G protein-coupled receptor kinase 6 isoform C", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330); alcohol use disorder (Disease Ontology:DOID:1574); opiate dependence (Disease Ontology:DOID:2559); rheumatoid arthritis (Disease Ontology:DOID:7148)", "pathway": " (hsa:2870); (R-HSA-418555)", "pathway_count": 2, "publication_count": 112, "publication_id_list": "10334944;10506199;11007482;11237011;12036966;12058044;12106601;12180353;12860470;13549488;14671004;1517224;15765929;15769620;15951850;16313925;16613860;16687412;16923326;17168849;17344846;18044684;18577758;18669648;18691976;19105585;19423652;19690332;19801552;19876791;19929708;20048153;20381629;20729810;21036126;2163110;23481700;2417744;24687066;24714562;2491850;25418920;2553411;2553705;25576301;25645385;26417854;26992070;27846572;27920218;28228285;28514659;2871555;28832583;28904123;29242379;29393594;29443750;29493099;29508533;29557506;29602314;29786170;30315122;30429286;30833991;31154438;31217245;3127824;31279028;31399091;31530632;31844290;31848261;31983287;32157095;32226383;32350084;32357974;32387766;32497535;32540603;32618402;32715661;32897882;32938616;32983136;33049737;33298915;33639163;33717175;33912179;33968037;33981976;34357683;34509645;35051231;35154160;35251023;35580925;36261031;36555521;6085243;7961702;8340388;8366096;8415712;8514797;8672451;9263355;9417641;9651336", "class_list": "", "function": "M2 macrophages-derived exosomal miR-3917 promotes the progression of lung cancer via targeting GRK6. Publication Status: Online-Only, [RefSeq, PubMed]; Multisite NHERF1 phosphorylation controls GRK6A regulation of hormone-sensitive phosphate transport., [RefSeq, PubMed]; Specifically phosphorylates the activated forms of G protein-coupled receptors (PubMed:19423652, PubMed:20048153). Such receptor phosphorylation initiates beta-arrestin-mediated receptor internalization, and signaling events leading to their desensitization (PubMed:19423652, PubMed:20048153). Seems to be involved in the desensitization of D2-like dopamine receptors in striatum and chemokine receptor CXCR4 which is critical for CXCL12-induced cell chemotaxis (PubMed:20048153). Phosphorylates rhodopsin (RHO) (in vitro) and a non G protein-coupled receptor: LRP6 during Wnt signaling (in vitro) (PubMed:19801552)., [UniProtKB, PubMed, PubMed, PubMed]; The Role of G Protein-Coupled Receptor Kinase 6 Regulation in Inflammation and Pain. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates the activated forms of G protein-coupled receptors thus initiating their deactivation. Several transcript variants encoding different isoforms have been described 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": 6, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 6, "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": "O60541;Q13652", "ec_number_list": [ { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.15", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.15", "type": "external" }, { "id": "2.7.11.16", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.16", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0004703 G protein-coupled receptor kinase activity;GO:0047696 beta-adrenergic receptor kinase activity;GO:0004674 protein serine/threonine kinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0016055 Wnt signaling pathway;GO:0009966 regulation of signal transduction;GO:0008277 regulation of G protein-coupled receptor signaling pathway;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 11.3, "record_id": "P43250-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H116-1", "uniprot_id": [ { "id": "GZF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H116", "type": "external" } ], "mass": 80492.0, "length": 711, "protein_name": "GDNF-inducible zinc finger protein 1", "gene_name": "GZF1", "organism": "Human", "refseq_name": "GDNF-inducible zinc finger protein 1 isoform a", "refseq_ac": [ { "id": "NP_001303941", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303941", "type": "external" } ], "gene_names_uniprotkb": "GZF1; ZBTB23; ZNF336", "gene_names_refseq": "GZF1; JLSM; ZBTB23; ZNF336", "protein_names_uniprotkb": "GDNF-inducible zinc finger protein 1; Zinc finger and BTB domain-containing protein 23; Zinc finger protein 336", "protein_names_refseq": "GDNF-inducible zinc finger protein 1 isoform a; zinc finger and BTB domain-containing protein 23; zinc finger protein 336", "tax_id": 9606, "disease": "joint laxity, short stature, and myopia (Disease Ontology:DOID:0070748)", "pathway": " (hsa:64412)", "pathway_count": 1, "publication_count": 57, "publication_id_list": "11237011;14522971;16049025;17674968;19664994;21248752;21292309;23481700;25418920;25576301;25645385;26375851;26992070;27600516;27846572;28063628;28228285;28475863;28649982;28832583;28834231;28904123;29242379;29393594;29557506;29632046;29786170;30315122;30379171;30429286;30524438;31154438;31530632;31844290;31848261;32157095;32265295;32357974;32387766;32488085;32938616;33009817;33141586;33298915;33537174;33592498;33717175;33968037;33981976;34087483;34185709;34211107;34932366;35318648;35580925;36241641;36581221", "class_list": "", "function": "Induction of GZF1 expression via the is required for renal branching morphogenesis Erratum:[J Biol Chem. 2004 Jan 23;279(4):3120], [RefSeq, PubMed]; Novel GZF1 pathogenic variants identified in two Chinese patients with Larsen syndrome., [RefSeq, PubMed]; The repressive activity of GZF1 is modulated by the level at which nucleolin is expressed., [RefSeq, PubMed]; These findings suggest that GZF1 represents a new marker for renal proximal tubules., [RefSeq, PubMed]; Transcriptional repressor that binds the GZF1 responsive element (GRE) (consensus: 5'-TGCGCN[TG][CA]TATA-3'). May be regulating VSX2/HOX10 expression., [UniProtKB, PubMed, PubMed]; We report an autosomal-recessive Larsen syndrome that is most likely caused by GZF1 mutations., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 14, "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": "A8K199;B2RBC3;B3KPL4;B4DF58;D3DW39;Q54A22;Q96N08;Q9BQK9;Q9H117;Q9H6W6", "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:0043565 sequence-specific DNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm", "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", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q9H116-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92551-1", "uniprot_id": [ { "id": "IP6K1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92551", "type": "external" } ], "mass": 50236.0, "length": 441, "protein_name": "Inositol hexakisphosphate kinase 1", "gene_name": "IP6K1", "organism": "Human", "refseq_name": "inositol hexakisphosphate kinase 1 isoform 2", "refseq_ac": [ { "id": "NP_001006115", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001006115", "type": "external" } ], "gene_names_uniprotkb": "IP6K1; IHPK1; KIAA0263", "gene_names_refseq": "IHPK1; IP6K1; PiUS", "protein_names_uniprotkb": "Inositol hexakisphosphate kinase 1; 2.7.4.21; Inositol hexaphosphate kinase 1; InsP6 kinase 1", "protein_names_refseq": "ATP:1D-myo-inositol-hexakisphosphate phosphotransferase; Pi uptake stimulator; inositol hexakisphosphate kinase 1 isoform 2; inositol hexaphosphate kinase 1; insP6 kinase 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9807); (R-HSA-1855167); (R-HSA-1855191)", "pathway_count": 3, "publication_count": 64, "publication_id_list": "10419486;10585413;10777568;10827188;11042108;11237011;11502751;11909533;12027805;12084730;12105228;12121577;12223481;16293229;17412958;17690096;17702752;17705785;18355727;18669648;18981179;22119861;23481700;24714562;24715725;25418920;25892735;26728094;27862975;28228285;28832583;28904123;29242379;29508533;29557506;29632711;29769354;29786170;30315122;30379171;30429286;31092671;31844290;32157095;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33392160;33592498;33912179;33968037;34171305;34229060;34509645;34757046;34841428;35051231;36010968;37217939;9822604", "class_list": "", "function": "Converts inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). Converts 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4., [UniProtKB, UniProtKB]; IP6K1 upregulates the formation of processing bodies by influencing protein-protein interactions on the mRNA cap., [RefSeq, PubMed]; MiR-125a-5p impairs the metastatic potential in breast cancer via IP6K1 targeting., [RefSeq, PubMed]; Pleiotropic actions of IP6K1 mediate hepatic metabolic dysfunction to promote nonalcoholic fatty liver disease and steatohepatitis., [RefSeq, PubMed]; This gene encodes a member of the inositol phosphokinase family. The encoded protein may be responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 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": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K157;A8MUX4;Q7L3I7;Q96E38", "ec_number_list": [ { "id": "2.7.4.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.21", "type": "external" }, { "id": "2.7.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.-.-", "type": "external" }, { "id": "2.7.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.-", "type": "external" } ], "go_molecular_function": "GO:0000827 inositol-1,3,4,5,6-pentakisphosphate kinase activity;GO:0000828 inositol hexakisphosphate kinase activity;GO:0000829 diphosphoinositol pentakisphosphate kinase activity;GO:0000832 inositol hexakisphosphate 5-kinase activity;GO:0052836 inositol 5-diphosphate pentakisphosphate 5-kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0001650 fibrillar center", "go_biological_process": "GO:0046854 phosphatidylinositol phosphate biosynthetic process;GO:0043647 inositol phosphate metabolic process;GO:0120163 negative regulation of cold-induced thermogenesis;GO:0032958 inositol phosphate biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q92551-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96N16-1", "uniprot_id": [ { "id": "JKIP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96N16", "type": "external" } ], "mass": 73209.0, "length": 626, "protein_name": "Janus kinase and microtubule-interacting protein 1", "gene_name": "JAKMIP1", "organism": "Human", "refseq_name": "janus kinase and microtubule-interacting protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001092903", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092903", "type": "external" } ], "gene_names_uniprotkb": "JAKMIP1; GABABRBP; JAMIP1; MARLIN1", "gene_names_refseq": "Gababrbp; JAKMIP1; JAMIP1; MARLIN1", "protein_names_uniprotkb": "Janus kinase and microtubule-interacting protein 1; GABA-B receptor-binding protein; Marlin-1; Multiple alpha-helices and RNA-linker protein 1", "protein_names_refseq": "GABA-B receptor-binding protein; Jak and microtubule interacting protein 1; janus kinase and microtubule-interacting protein 1 isoform 1; marlin-1; multiple alpha-helices and RNA-linker protein 1; multiple coiled-coil GABABR1-binding protein", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041)", "pathway": " (hsa:152789)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11237011;14718537;15277531;16959974;17532644;17761393;19690332;28228285;28832583;28904123;29242379;29557506;31844290;32488085;32983136;35051231;36215666;37938771", "class_list": "", "function": "Associates with microtubules and may play a role in the microtubule-dependent transport of the GABA-B receptor. May play a role in JAK1 signaling and regulate microtubule cytoskeleton rearrangements., [UniProtKB, PubMed, PubMed, PubMed]; Marlin-1 functions to regulate the cellular levels of GABA(B) R2 subunits, which may have significant effects on the production of functional GABA(B) receptor heterodimers, [RefSeq, PubMed]; Marlin1 has a role in cell polarization, segregation of signaling complexes, and vesicle traffic, some of which may involve Jak tyrosine kinases, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 25, "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": "A6H2J2;A6H2J3;A6H2J4;A6H2J5;A8MTK6;B4DHZ8;B8ZZR7;D3DVT0;Q86Y69;Q8N7G3", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008017 microtubule binding;GO:0019900 kinase binding;GO:0050811 GABA receptor binding", "go_cellular_component": "GO:0005874 microtubule;GO:0016020 membrane;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0015031 protein transport;GO:0050890 cognition", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q96N16-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BZL6-1", "uniprot_id": [ { "id": "KPCD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BZL6", "type": "external" } ], "mass": 96722.0, "length": 878, "protein_name": "Serine/threonine-protein kinase D2", "gene_name": "PRKD2", "organism": "Human", "refseq_name": "serine/threonine-protein kinase D2 isoform A", "refseq_ac": [ { "id": "NP_001073349", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073349", "type": "external" } ], "gene_names_uniprotkb": "PRKD2; HSPC187; PKD2", "gene_names_refseq": "HSPC187; PKD2; PRKD2; nPKC-D2", "protein_names_uniprotkb": "Serine/threonine-protein kinase D2; 2.7.11.13; nPKC-D2", "protein_names_refseq": "serine/threonine-protein kinase D2 isoform A; serine/threonine-protein kinase D2", "tax_id": 9606, "disease": "candidiasis (Disease Ontology:DOID:1508)", "pathway": " (hsa:25865); (R-HSA-1660661)", "pathway_count": 2, "publication_count": 160, "publication_id_list": "10722674;10751414;10802064;10947957;11062248;11237011;11937514;12042320;12058027;14685229;14685263;14743217;14976195;15063729;15104674;15328338;15337768;15604256;16083285;16100120;16118219;16571669;16793762;16895911;16928771;17023427;17050692;17077180;17081983;17192257;17322306;17331073;17344846;17355976;17449912;17591919;17951978;17962809;17982138;18076381;18165232;18165233;18184806;18262756;18669648;18691976;18836451;19001381;19005213;19192391;19233134;19369195;19413330;19416851;19506037;19651622;20061445;20068231;20110355;20166139;20182505;21406692;21620961;21865166;22517924;22564745;22970244;23180825;23186163;23481700;23503467;23562655;23602659;23754960;24275569;24569996;24715725;24782409;25418920;25576301;25788259;25892735;26154972;26375851;26811146;26992070;28063628;28218747;28228285;28428613;28446606;28514659;28575652;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29563527;29632046;29786170;30315122;30429286;30718593;30779550;30784271;30833945;31092671;31154438;31530632;31844290;31848261;31895563;32157095;32161166;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33537174;33691108;33912179;33968037;33981976;34087483;34171305;34357683;34509645;34932366;35051231;35154160;35254053;35409383;35494241;35580925;36010968;36017858;36215666;36241641;36902339;36907437;37224812;37390971;37616163;37938771;38411280;40307207;4339164;4817756;9188692;9312549;9363775", "class_list": "", "function": "Golgi retention and oncogenic KIT signaling via PLCgamma2-PKD2-PI4KIIIbeta activation in gastrointestinal stromal tumor cells., [RefSeq, PubMed]; Knockdown of PRKD2 Enhances Chemotherapy Sensitivity in Cervical Cancer via the TP53/CDKN1A Pathway., [RefSeq, PubMed]; Mechanism of activation by CCK(B)/gastrin receptor, [RefSeq, PubMed]; Serine/threonine-protein kinase D2-mediated phosphorylation of DSG2 threonine 730 promotes esophageal squamous cell carcinoma progression., [RefSeq, PubMed]; Serine/threonine-protein kinase that converts transient diacylglycerol (DAG) signals into prolonged physiological effects downstream of PKC, and is involved in the regulation of cell proliferation via MAPK1/3 (ERK1/2) signaling, oxidative stress-induced NF-kappa-B activation, inhibition of HDAC7 transcriptional repression, signaling downstream of T-cell antigen receptor (TCR) and cytokine production, and plays a role in Golgi membrane trafficking, angiogenesis, secretory granule release and cell adhesion (PubMed:14743217, PubMed:15604256, PubMed:16928771, PubMed:17077180, PubMed:17951978, PubMed:17962809, PubMed:18262756, PubMed:19001381, PubMed:19192391, PubMed:23503467, PubMed:28428613). May potentiate mitogenesis induced by the neuropeptide bombesin by mediating an increase in the duration of MAPK1/3 (ERK1/2) signaling, which leads to accumulation of immediate-early gene products including FOS that stimulate cell cycle progression (By similarity). In response to oxidative stress, is phosphorylated at Tyr-438 and Tyr-717 by ABL1, which leads to the activation of PRKD2 without increasing its catalytic activity, and mediates activation of NF-kappa-B (PubMed:15604256, PubMed:28428613). In response to the activation of the gastrin receptor CCKBR, is phosphorylated at Ser-244 by CSNK1D and CSNK1E, translocates to the nucleus, phosphorylates HDAC7, leading to nuclear export of HDAC7 and inhibition of HDAC7 transcriptional repression of NR4A1/NUR77 (PubMed:17962809). Upon TCR stimulation, is activated independently of ZAP70, translocates from the cytoplasm to the nucleus and is required for interleukin-2 (IL2) promoter up-regulation (PubMed:17077180). During adaptive immune responses, is required in peripheral T-lymphocytes for the production of the effector cytokines IL2 and IFNG after TCR engagement and for optimal induction of antibody responses to antigens (By similarity). In epithelial cells stimulated with lysophosphatidic acid (LPA), is activated through a PKC-dependent pathway and mediates LPA-stimulated interleukin-8 (IL8) secretion via a NF-kappa-B-dependent pathway (PubMed:16928771). During TCR-induced T-cell activation, interacts with and is activated by the tyrosine kinase LCK, which results in the activation of the NFAT transcription factors (PubMed:19192391). In the trans-Golgi network (TGN), regulates the fission of transport vesicles that are on their way to the plasma membrane and in polarized cells is involved in the transport of proteins from the TGN to the basolateral membrane (PubMed:14743217). Plays an important role in endothelial cell proliferation and migration prior to angiogenesis, partly through modulation of the expression of KDR/VEGFR2 and FGFR1, two key growth factor receptors involved in angiogenesis (PubMed:19001381). In secretory pathway, is required for the release of chromogranin-A (CHGA)-containing secretory granules from the TGN (PubMed:18262756). Downstream of PRKCA, plays important roles in angiotensin-2-induced monocyte adhesion to endothelial cells (PubMed:17951978). Plays a regulatory role in angiogenesis and tumor growth by phosphorylating a downstream mediator CIB1 isoform 2, resulting in vascular endothelial growth factor A (VEGFA) secretion (PubMed:23503467)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Specificity of different PKD isoforms in regulating protein trafficking from the trans-Golgi network, [RefSeq, PubMed]; The protein encoded by this gene belongs to the protein kinase D (PKD) family of serine/threonine protein kinases. This kinase can be activated by phorbol esters as well as by gastrin via the cholecystokinin B receptor (CCKBR) in gastric cancer cells. It can bind to diacylglycerol (DAG) in the trans-Golgi network (TGN) and may regulate basolateral membrane protein exit from TGN. 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": 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": 36, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 17, "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": "B4DTS2;M0QZW1;M0R2R2;Q8NCK8;Q8TB08;Q9P0T6;Q9Y3X8", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004699 diacylglycerol-dependent, calcium-independent serine/threonine kinase activity;GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol", "go_biological_process": "GO:0070232 regulation of T cell apoptotic process;GO:2001028 positive regulation of endothelial cell chemotaxis;GO:0001525 angiogenesis;GO:0006468 protein phosphorylation;GO:0007155 cell adhesion", "synthesized_glycan_count": 0, "hit_score": 16.5, "record_id": "Q9BZL6-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75469-1", "uniprot_id": [ { "id": "NR1I2_HUMAN", "url": "https://www.uniprot.org/uniprot/O75469", "type": "external" } ], "mass": 49762.0, "length": 434, "protein_name": "Nuclear receptor subfamily 1 group I member 2", "gene_name": "NR1I2", "organism": "Human", "refseq_name": "nuclear receptor subfamily 1 group I member 2 isoform 1", "refseq_ac": [ { "id": "NP_003880", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003880", "type": "external" } ], "gene_names_uniprotkb": "NR1I2; PXR", "gene_names_refseq": "BXR; NR1I2; ONR1; PAR1; PAR2; PARq; PAR; PRR; PXR; SAR; SXR", "protein_names_uniprotkb": "Nuclear receptor subfamily 1 group I member 2; Orphan nuclear receptor PAR1; Orphan nuclear receptor PXR; Pregnane X receptor; SXR; Steroid and xenobiotic receptor", "protein_names_refseq": "nuclear receptor subfamily 1 group I member 2 isoform 1; orphan nuclear receptor PAR1; orphan nuclear receptor PXR; pregnane X receptor; steroid and xenobiotic receptor", "tax_id": 9606, "disease": "cholestasis (Disease Ontology:DOID:13580); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:8856)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "11237011;11297522;11408620;11668216;12578355;12606758;12909012;15618712;15705662;17215127;18768384;18784074;19297428;22829544;22976785;23160820;24184507;25074870;26119819;26534988;28904123;28911860;31844290;32798464;35053380;35742805;36233042;36503926;36951964;37349114;37969738;9727070;9770465;9784494", "class_list": "", "function": "Effect of pregnane X receptor and cytochrome P450 oxidoreductase gene polymorphisms on trough concentrations of rivaroxaban and edoxaban in patients with nonvalvular atrial fibrillation., [RefSeq, PubMed]; Effects of NR1I2 and ABCB1 Genetic Polymorphisms on Everolimus Pharmacokinetics in Japanese Renal Transplant Patients. Publication Status: Online-Only, [RefSeq, PubMed]; In-vitro transcription/translation studies show that translation of pregnane X receptor mRNA initiates at a non-AUG (CUG) codon., [RefSeq, PubMed]; NEAT1_2 and DAZAP1, Paraspeckle Components, Interact with PXR to Negatively Regulate CYP3A4 Induction., [RefSeq, PubMed]; Nuclear receptor that acts as a transcription factor regulating genes involved in the metabolism and excretion of xenobiotics, drugs, and endogenous compounds. Activated by a broad range of endogenous steroids (e.g. pregnenolone, progesterone) and xenobiotics, including the antibiotic rifampicin and certain plant-derived metabolites. Upon ligand binding, translocates to the nucleus, forms a heterodimer with the retinoid X receptor/RXR, and binds to response elements in target promoters, leading to transcriptional activation. Target genes include cytochrome P450 enzymes such as CYP3A4 and ATP-binding cassette transporters including ABCB1/MDR1., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Pregnane X receptor gene variant rs7643645 and total mortality in subjects with nonalcoholic fatty liver disease., [RefSeq, PubMed]; Protease-Activated Receptor 1 in Human Carotid Atheroma Is Significantly Related to Iron Metabolism, Plaque Vulnerability, and the Patient's Age. Publication Status: Online-Only, [RefSeq, PubMed]; This gene product belongs to the nuclear receptor superfamily, members of which are transcription factors characterized by a ligand-binding domain and a DNA-binding domain. The encoded protein is a transcriptional regulator of the cytochrome P450 gene CYP3A4, binding to the response element of the CYP3A4 promoter as a heterodimer with the 9-cis retinoic acid receptor RXR. It is activated by a range of compounds that induce CYP3A4, including dexamethasone and rifampicin. Several alternatively spliced transcripts encoding different isoforms, some of which use non-AUG (CUG) translation initiation codon, have been described for this gene. Additional transcript variants exist, however, they have not been fully 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": 11, "reported_mutagensis": 3, "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": "Q006P5;Q008C8;Q96AC7;Q9UJ22;Q9UJ23;Q9UJ24;Q9UJ25;Q9UJ26;Q9UJ27;Q9UNW4", "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:0004879 nuclear receptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0007165 signal transduction;GO:0030154 cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "O75469-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N2W9-1", "uniprot_id": [ { "id": "PIAS4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N2W9", "type": "external" } ], "mass": 56504.0, "length": 510, "protein_name": "E3 SUMO-protein ligase PIAS4", "gene_name": "PIAS4", "organism": "Human", "refseq_name": "E3 SUMO-protein ligase PIAS4", "refseq_ac": [ { "id": "NP_056981", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056981", "type": "external" } ], "gene_names_uniprotkb": "PIAS4; PIASG", "gene_names_refseq": "PIAS-gamma; PIAS4; PIASY; Piasg; ZMIZ6", "protein_names_uniprotkb": "E3 SUMO-protein ligase PIAS4; 2.3.2.27; PIAS-gamma; PIASy; Protein inhibitor of activated STAT protein 4; Protein inhibitor of activated STAT protein gamma", "protein_names_refseq": "E3 SUMO-protein ligase PIAS4; RING-type E3 ubiquitin transferase PIAS4; protein inhibitor of activated STAT protein 4; protein inhibitor of activated STAT protein PIASy; protein inhibitor of activated STAT protein gamma; zinc finger, MIZ-type containing 6", "tax_id": 9606, "disease": "hematologic cancer (Disease Ontology:DOID:2531)", "pathway": " (hsa:51588); (R-HSA-196791); (R-HSA-3108214); (R-HSA-3232118); (R-HSA-3232142); (R-HSA-3899300); (R-HSA-4085377); (R-HSA-4090294); (R-HSA-4615885); (R-HSA-4755510); (R-HSA-5693565); (R-HSA-5693571); (R-HSA-5693607); (R-HSA-69473)", "pathway_count": 14, "publication_count": 423, "publication_id_list": "10052453;10518789;10550055;10572166;10574707;10724175;10757784;10759568;10766245;10802669;10859164;10862613;10866324;10959836;10973490;11012668;11025670;11080452;11085925;11114888;11121022;11124955;11139606;11234559;11248056;11301010;11376695;11388671;11390408;11390642;11439351;11477070;11493912;11571274;11573085;11604075;11702069;11709553;11717447;11792325;11799400;11842083;11856765;11889051;11893489;11927591;11934988;11955432;12023295;12072434;12077346;12077349;12144530;12149243;12150977;12152085;12177000;12186630;12223491;12227689;12231622;12356736;12364621;12393906;12419227;12447390;12485996;12509254;12511558;12529333;12545175;12578958;12607003;12607005;12631292;12679040;12697768;12718889;12727872;12750312;12773400;12791985;12792649;12832072;12832489;12855575;12867411;12890688;12897153;12947387;14500761;14516784;14560035;14561766;14576433;14651848;15064416;15175327;15177042;15189136;15190204;15192080;15192092;15201865;15247228;15251447;15279782;15355988;15378033;15451442;15465040;15468306;15494207;15507434;15574327;15608651;15647825;15707391;15723659;15728261;15766567;15823533;15829507;15831457;15923626;15931174;15940266;15958389;15959518;15961505;15976810;15989970;16030353;16061182;16093244;16098147;16148040;16150728;16153896;16194093;16327781;16360315;16377563;16427009;16439204;16439205;16478998;16530042;16600297;16608850;16617055;16626738;16651405;16688858;16757475;16781829;16810316;16874298;16885023;16906147;16912044;16914548;17020914;17079232;17081986;17105732;17183683;17218271;17283066;17290226;17298944;17314004;17369852;17470781;17525332;17525340;17535915;17553757;17575048;17693435;17717077;17803295;17848578;17928296;17942393;17965729;18001824;18001825;18006705;18046455;18077395;18082607;18171670;18211901;18339323;18374648;18381449;18394993;18397950;18443292;18488044;18617891;18617892;18625722;18644861;18691969;18708356;18805091;18923075;18946085;18971343;19001859;19041634;19092802;19117993;19176521;19203578;19203579;19211567;19234442;19240082;19261749;19287951;19297320;19351884;19357644;19413330;19419957;19473635;19505854;19596686;19608861;19615980;19622798;19692572;19706679;19744555;19779455;19782031;19850744;19864602;19955185;19956565;19995069;20016594;20016603;20023648;20098713;20154705;20159957;20176810;20188669;20190268;20209145;20233725;20300531;20351172;20547755;20663916;20676127;20705237;20719936;20972456;21052091;21098080;21147198;21167178;21240188;21263215;21282113;21284855;21293379;21325134;21335604;21338522;21375726;21467194;21527249;21550342;21554500;21595846;21659603;21680713;21777809;21849106;21900752;21965678;22021381;22022399;22024395;22179609;22231403;22234877;22373579;22457066;22464730;22467880;22508508;22529269;22564762;22589545;22617051;22635276;22649547;22661229;22661230;22713328;22751501;22792074;22877430;22879719;22908299;22918710;22930759;22977173;22980979;23306437;23333306;23345434;23404503;23417673;23468639;23505375;23546875;23673342;23727112;23750026;23857223;23871147;24002598;24027577;24101867;24236237;24390485;24569127;24667604;24782567;24835590;25074923;25113031;25114211;25122754;25218447;25363733;25512557;25558984;25659039;25800734;25818648;25841101;26024233;26073453;26154972;26434738;26748501;26992070;27250744;27846572;27862975;27913313;27920218;27935866;28005175;28063628;28206978;28218747;28228285;28841848;28842558;28904123;29070839;29393594;29437277;29493099;29557506;29632046;29786170;30410026;31217245;31844290;31848261;32157095;32832608;32897882;32938616;32983136;33123756;33592498;33633747;33691108;33717175;33912179;33968037;34048572;34171305;34423038;35007836;35013556;35051231;35318648;36172813;36241641;40914422;7768901;8422676;8506296;8679605;8706697;8944023;9168116;9259561;9412458;9430729;9452416;9488723;9512523;9705271;9724754;9734360;9756909;9821970;9826654;9885291", "class_list": "", "function": "Effect of MiR-210 on the Chemosensitivity of Breast Cancer by Regulating JAK-STAT Signaling Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Functions as an E3-type small ubiquitin-like modifier (SUMO) ligase, stabilizing the interaction between UBE2I and the substrate, and as a SUMO-tethering factor (PubMed:12511558, PubMed:12631292, PubMed:12727872, PubMed:15831457, PubMed:15976810, PubMed:22508508, PubMed:32832608). Mediates sumoylation of ALKBH5, AXIN1, CEBPA, KLF8, GATA2, PARK7, HERC2, MYB, TCF4 and RNF168 (PubMed:12223491, PubMed:12511558, PubMed:12631292, PubMed:12727872, PubMed:12750312, PubMed:15831457, PubMed:15976810, PubMed:16617055, PubMed:22508508, PubMed:34048572). Plays a crucial role as a transcriptional coregulation in various cellular pathways, including the STAT pathway, the p53/TP53 pathway, the Wnt pathway and the steroid hormone signaling pathway (PubMed:11388671). Involved in gene silencing (PubMed:11248056). In Wnt signaling, represses LEF1 and enhances TCF4 transcriptional activities through promoting their sumoylations (PubMed:12727872, PubMed:15831457). Enhances the sumoylation of MTA1 and may participate in its paralog-selective sumoylation (PubMed:21965678). Binds to AT-rich DNA sequences, known as matrix or scaffold attachment regions (MARs/SARs) (By similarity). Catalyzes conjugation of SUMO2 to KAT5 in response to DNA damage, facilitating repair of DNA double-strand breaks (DSBs) via homologous recombination (HR) (PubMed:32832608). Mediates sumoylation of PARP1 in response to PARP1 trapping to chromatin (PubMed:35013556). Mediates sumoylation of KLF8, repressing KLF8 transcriptional activity and cell cycle progression into G(1) phase (PubMed:16617055). Sumoylates ALKBH5 downstream of MAPK8/JNK1 and MAPK9/JNK2 in response to reactive oxygen species (ROS), inhibiting ALKBH5 RNA demethylase activity (PubMed:34048572)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Roles of the SUMO-related enzymes, PIAS1, PIAS4, and RNF4, in DNA double-strand break repair by homologous recombination., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 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": "O75926;Q96G19;Q9UN16", "ec_number_list": [ { "id": "1.14.11.69", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.69", "type": "external" }, { "id": "1.14.11.66", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.66", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.1.1.357", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.357", "type": "external" }, { "id": "2.4.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.-", "type": "external" }, { "id": "2.4.2.30", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.30", "type": "external" }, { "id": "5.6.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.2", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.4.19.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.-", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" } ], "go_molecular_function": "GO:0061665 SUMO ligase activity;GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0003714 transcription corepressor activity;GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:1990234 transferase complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016363 nuclear matrix", "go_biological_process": "GO:0042359 vitamin D metabolic process;GO:1902174 positive regulation of keratinocyte apoptotic process;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0016925 protein sumoylation", "synthesized_glycan_count": 0, "hit_score": 42.6, "record_id": "Q8N2W9-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35916-2", "uniprot_id": [ { "id": "VGFR3_HUMAN", "url": "https://www.uniprot.org/uniprot/P35916", "type": "external" } ], "mass": 152757.0, "length": 1363, "protein_name": "Vascular endothelial growth factor receptor 3", "gene_name": "FLT4", "organism": "Human", "refseq_name": "vascular endothelial growth factor receptor 3 isoform 2 precursor", "refseq_ac": [ { "id": "NP_002011", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002011", "type": "external" } ], "gene_names_uniprotkb": "FLT4; VEGFR3", "gene_names_refseq": "CHTD7; FLT-4; FLT41; FLT4; LMPH1A; LMPHM1; PCL; VEGFR-3; VEGFR3", "protein_names_uniprotkb": "Vascular endothelial growth factor receptor 3; 2.7.10.1; FLT-4; Fms-like tyrosine kinase 4; Tyrosine-protein kinase receptor FLT4; VEGFR-3", "protein_names_refseq": "Feline McDonough Sarcoma (FMS)-like tyrosine kinase 4; VEGF receptor-3; fms related tyrosine kinase 4; fms-like tyrosine kinase 4; primary congenital lymphedema; tyrosine-protein kinase receptor FLT4; vascular endothelial growth factor receptor 3 isoform 2 precursor; vascular endothelial growth factor receptor 3", "tax_id": 9606, "disease": "hereditary lymphedema (Disease Ontology:DOID:0050580); benign neoplasm (Disease Ontology:DOID:0060072); hereditary lymphedema IA (Disease Ontology:DOID:0070210); 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); endometrial cancer (Disease Ontology:DOID:1380); lymphangioma (Disease Ontology:DOID:1475); breast cancer (Disease Ontology:DOID:1612); cancer (Disease Ontology:DOID:162); carcinoma (Disease Ontology:DOID:305); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung squamous cell carcinoma (Disease Ontology:DOID:3907); lung adenocarcinoma (Disease Ontology:DOID:3910); thyroid gland carcinoma (Disease Ontology:DOID:3963); systemic scleroderma (Disease Ontology:DOID:418); nephrolithiasis (Disease Ontology:DOID:585); capillary infantile hemangioma (MONDO:MONDO:0011191); congenital heart defects, multiple types, 7 (MONDO:MONDO:0032913)", "pathway": " (hsa:2324); (R-HSA-195399); (R-HSA-9013695); (R-HSA-9856530)", "pathway_count": 4, "publication_count": 104, "publication_id_list": "10.1101/2023.09.13.557529;10376603;10639123;10649434;10764742;10835628;10856194;11004490;11387210;11532940;11807987;11853546;11968001;12176338;12724311;12871269;12881528;1310071;1319394;1327515;1417831;14672936;15102829;15304325;15340161;15474514;15531924;15718470;16076871;16335952;16452200;16780920;16924388;16965327;17210781;17344846;17458866;18239137;18593464;18680722;18710921;19020623;19230644;19289394;19610651;19723632;19779139;20068231;20224550;20431062;20445537;20804727;20826270;21196198;21273538;21711246;23878260;2479986;25003617;25643397;26091405;26387946;26801977;26992070;27566546;27797339;27862975;28991257;29146722;29242379;29557506;29786170;30232381;30524438;31205027;32157095;32296767;32350084;32897882;33592498;34185709;34499618;35051231;35251023;35580925;37074911;37938771;38888964;39107825;7675451;7692369;7824266;7876172;7898938;8386825;8617204;8637916;8700127;8700872;9207067;9435229;9620797;9722576;9817924", "class_list": "", "function": "FLT4 gene polymorphisms influence isolated ventricular septal defect predisposition in a Southwest China population. Publication Status: Online-Only, [RefSeq, PubMed]; The Alzheimer's disease-linked protease BACE2 cleaves VEGFR3 and modulates its signaling. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a tyrosine kinase receptor for vascular endothelial growth factors C and D. The protein is thought to be involved in lymphangiogenesis and maintenance of the lymphatic endothelium. Mutations in this gene cause hereditary lymphedema type IA. [provided by RefSeq, Jul 2008]., [RefSeq]; Tyrosine-protein kinase that acts as a cell-surface receptor for VEGFC and VEGFD, and plays an essential role in adult lymphangiogenesis and in the development of the vascular network and the cardiovascular system during embryonic development. Promotes proliferation, survival and migration of endothelial cells, and regulates angiogenic sprouting. Signaling by activated FLT4 leads to enhanced production of VEGFC, and to a lesser degree VEGFA, thereby creating a positive feedback loop that enhances FLT4 signaling. Modulates KDR signaling by forming heterodimers. The secreted isoform 3 may function as a decoy receptor for VEGFC and/or VEGFD and play an important role as a negative regulator of VEGFC-mediated lymphangiogenesis and angiogenesis. Binding of vascular growth factors to isoform 1 or isoform 2 leads to the activation of several signaling cascades; isoform 2 seems to be less efficient in signal transduction, because it has a truncated C-terminus and therefore lacks several phosphorylation sites. Mediates activation of the MAPK1/ERK2, MAPK3/ERK1 signaling pathway, of MAPK8 and the JUN signaling pathway, and of the AKT1 signaling pathway. Phosphorylates SHC1. Mediates phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase. Promotes phosphorylation of MAPK8 at 'Thr-183' and 'Tyr-185', and of AKT1 at 'Ser-473'., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 6, "predicted_n_glycosites": 4, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 8, "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": 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": 31, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 157, "reported_interactions": 0, "missing_score": 9507, "biomarker_type": "", "glycan_count": 5, "disease_count": 20, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "A8K6L4;B5A926;Q16067;Q86W07;Q86W08", "ec_number_list": [ { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0019838 growth factor binding;GO:0042803 protein homodimerization activity;GO:0019903 protein phosphatase binding;GO:0004714 transmembrane receptor protein tyrosine kinase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0043235 receptor complex", "go_biological_process": "GO:0001934 positive regulation of protein phosphorylation;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0008284 positive regulation of cell population proliferation;GO:0016477 cell migration;GO:0018108 peptidyl-tyrosine phosphorylation", "synthesized_glycan_count": 0, "hit_score": 11.9, "record_id": "P35916-2", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1000000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P30519-1", "uniprot_id": [ { "id": "HMOX2_HUMAN", "url": "https://www.uniprot.org/uniprot/P30519", "type": "external" } ], "mass": 36033.0, "length": 316, "protein_name": "Heme oxygenase 2", "gene_name": "HMOX2", "organism": "Human", "refseq_name": "heme oxygenase 2 isoform b", "refseq_ac": [ { "id": "NP_001120676", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120676", "type": "external" } ], "gene_names_uniprotkb": "HMOX2; HO2", "gene_names_refseq": "HMOX2; HO-2", "protein_names_uniprotkb": "Heme oxygenase 2; 1.14.14.18; HO-2", "protein_names_refseq": "heme oxygenase (decycling) 2; heme oxygenase 2 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:3163); (R-HSA-189483); (R-HSA-6798695); (R-HSA-8980692); (R-HSA-917937); (R-HSA-9707564)", "pathway_count": 6, "publication_count": 256, "publication_id_list": "10037681;10232922;10421658;10490598;10523665;10523675;10526156;10579713;10597293;10619026;10620517;10644574;10699171;10873388;11023036;11058585;11085924;11134001;11207612;11237011;11323407;11373293;11396949;11397817;11431473;11432776;1157293;11606631;11672528;11680691;11689693;11704860;11804589;11804590;11884391;11912491;12071859;12093360;12195014;12221077;12221096;12453412;12504026;12531887;12650940;12857875;12877655;12958161;12969439;14512443;14527438;14576842;15001581;15023524;15044468;15064355;15107133;15201052;15245331;15302923;15342493;15485661;15531878;15537541;15601624;15611138;1575508;15850391;15866170;16112081;16116428;16143108;16150497;16184169;16217026;16274220;16377569;16407072;16467373;16510471;16519628;16568091;16630611;16776779;16777452;16777849;16862148;16896804;16914516;17077126;17264172;17562871;17702745;17765681;17804252;17932950;17942708;17965015;17976533;18158243;18194661;18218625;18829452;1946430;19494238;19605563;19635168;19673492;19690164;19713215;19762596;19762597;19968714;20030946;20101212;20400958;20550936;20591975;20628200;20660154;20929863;21148482;21351730;21454492;2154449;21565175;21699497;21865595;21936715;22096251;22232210;22298643;22305756;22427940;22673745;22823425;22911862;22992742;23186163;23200924;23255595;23434736;23572525;23615448;23650620;23870313;24086303;24128008;24259668;24335996;24352656;24933155;25211221;25418920;25645385;25704760;25880248;25892735;26371245;26529257;26887924;26992070;27145964;27216196;27481945;27920218;27986909;28112683;28196833;28218747;28514659;28584191;28698372;28832583;28834231;28855257;28904123;29146911;29242379;29351928;29437277;29493099;29557506;29769354;30315122;30410026;31105010;31217245;31844290;31871319;32157095;32203420;32350084;32357974;32983136;33051205;33141586;33396647;33592498;33912179;33968037;34019948;34185709;34229054;3427020;34357683;3475708;34973332;35051231;35251023;35428017;35580925;38056462;40307207;40596516;40914422;4980931;6094553;7372607;7479768;7673236;7721814;7753201;7890772;7983023;8021274;8041788;8537347;8543060;8571126;8617235;8643598;8649427;8662891;8692836;8695634;8756646;8769096;8807639;8810315;8816443;8939998;9013646;9111050;9113980;9305890;9418861;9490638;9497316;9535835;9548756;9659915;9670022;9792683;9822605;9829970", "class_list": "", "function": "Catalyzes the oxidative cleavage of heme at the alpha-methene bridge carbon, released as carbon monoxide (CO), to generate biliverdin IXalpha, while releasing the central heme iron chelate as ferrous iron., [UniProtKB, PubMed, PubMed]; Heme oxygenase, an essential enzyme in heme catabolism, cleaves heme to form biliverdin, which is subsequently converted to bilirubin by biliverdin reductase, and carbon monoxide, a putative neurotransmitter. Heme oxygenase activity is induced by its substrate heme and by various nonheme substances. Heme oxygenase occurs as 2 isozymes, an inducible heme oxygenase-1 and a constitutive heme oxygenase-2. HMOX1 and HMOX2 belong to the heme oxygenase family. Several alternatively spliced transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]., [RefSeq]; Heme oxygenase-1 & 2 and their potential contribution in heme induced colorectal carcinogenesis., [RefSeq, PubMed]; Heme oxygenase-2 (HO-2) binds and buffers labile ferric heme in human embryonic kidney cells., [RefSeq, PubMed]; Heme oxygenase-2 is post-translationally regulated by heme occupancy in the catalytic site., [RefSeq, PubMed]; Immune Modulation by Inhibitors of the HO System. Review article Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 2, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 6, "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": "A8MT35;D3DUD5;I3L430;O60605", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.4.24.81", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.81", "type": "external" }, { "id": "6.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.3", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "6.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.7", "type": "external" }, { "id": "6.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.24", "type": "external" }, { "id": "6.2.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.15", "type": "external" }, { "id": "2.3.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.51", "type": "external" }, { "id": "1.14.19.17", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.19.17", "type": "external" }, { "id": "5.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.-", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "2.3.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.20", "type": "external" }, { "id": "2.3.1.76", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.76", "type": "external" }, { "id": "3.4.21.73", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.73", "type": "external" }, { "id": "1.6.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.3.-", "type": "external" }, { "id": "1.14.14.18", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.18", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.-", "type": "external" }, { "id": "7.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.-", "type": "external" }, { "id": "1.2.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.5", "type": "external" }, { "id": "1.2.1.28", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.28", "type": "external" }, { "id": "1.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.7", "type": "external" }, { "id": "1.2.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.48", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "3.2.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.6", "type": "external" }, { "id": "1.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-", "type": "external" }, { "id": "3.1.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.4", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.1.78", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.78", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0020037 heme binding;GO:0004392 heme oxygenase (decyclizing) activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0035579 specific granule membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006979 response to oxidative stress;GO:0001666 response to hypoxia;GO:0042167 heme catabolic process;GO:0006788 heme oxidation", "synthesized_glycan_count": 0, "hit_score": 26.1, "record_id": "P30519-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P53671-1", "uniprot_id": [ { "id": "LIMK2_HUMAN", "url": "https://www.uniprot.org/uniprot/P53671", "type": "external" } ], "mass": 72232.0, "length": 638, "protein_name": "LIM domain kinase 2", "gene_name": "LIMK2", "organism": "Human", "refseq_name": "LIM domain kinase 2 isoform 1", "refseq_ac": [ { "id": "NP_001026971", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026971", "type": "external" } ], "gene_names_uniprotkb": "LIMK2", "gene_names_refseq": "LIMK2", "protein_names_uniprotkb": "LIM domain kinase 2; 2.7.11.1; LIMK-2", "protein_names_refseq": "LIM domain kinase 2 isoform 1", "tax_id": 9606, "disease": "Williams-Beuren syndrome (Disease Ontology:DOID:1928)", "pathway": " (hsa:3985); (R-HSA-3928662); (R-HSA-416572); (R-HSA-5627117)", "pathway_count": 4, "publication_count": 105, "publication_id_list": "10219243;10436159;10652353;10995436;11018042;11058585;11134074;11230166;11237011;11331307;11340065;11580899;11747816;11804587;11942626;12185584;12196628;12220504;12546821;12702722;12730235;14988728;15210733;15378065;15548136;15721239;15923181;16219803;16298995;16505165;16820362;17151359;17344846;17440041;17548511;18025083;18477386;18669648;18691976;19099536;19553453;20068231;2201922;22328514;22492986;23082153;23186163;25576301;25849865;25880248;26992070;27600516;27846572;27862975;28063628;28218747;28228285;28581515;28832583;28834231;28904123;29242379;29437277;29493099;29557506;29632046;2966156;29786170;30315122;30379171;30410026;30429286;30459171;31217245;31844290;32157095;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33592498;33633747;33691108;33717175;33912179;33981976;34561969;34932366;35051231;35273591;35318648;35494241;35580925;36010968;36284347;3839510;7478585;8537403;8662509;8702756;8954941;9354661", "class_list": "", "function": "Inhibitor of PPP1CA., [UniProtKB, UniProtKB]; LIMK2 Is a Novel Prognostic Biomarker and Correlates With Tumor Immune Cell Infiltration in Lung Squamous Cell Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Serine/threonine-protein kinase that plays an essential role in the regulation of actin filament dynamics (PubMed:10436159, PubMed:11018042). Acts downstream of several Rho family GTPase signal transduction pathways (PubMed:10436159, PubMed:11018042). Involved in astral microtubule organization and mitotic spindle orientation during early stages of mitosis by mediating phosphorylation of TPPP (PubMed:22328514). Displays serine/threonine-specific phosphorylation of myelin basic protein and histone (MBP) in vitro (PubMed:8537403). Suppresses ciliogenesis via multiple pathways; phosphorylation of CFL1, suppression of directional trafficking of ciliary vesicles to the ciliary base, and by facilitating YAP1 nuclear localization where it acts as a transcriptional corepressor of the TEAD4 target genes AURKA and PLK1 (PubMed:25849865)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; There are approximately 40 known eukaryotic LIM proteins, so named for the LIM domains they contain. LIM domains are highly conserved cysteine-rich structures containing 2 zinc fingers. Although zinc fingers usually function by binding to DNA or RNA, the LIM motif probably mediates protein-protein interactions. LIM kinase-1 and LIM kinase-2 belong to a small subfamily with a unique combination of 2 N-terminal LIM motifs and a C-terminal protein kinase domain. The protein encoded by this gene is phosphorylated and activated by ROCK, a downstream effector of Rho, and the encoded protein, in turn, phosphorylates cofilin, inhibiting its actin-depolymerizing activity. It is thought that this pathway contributes to Rho-induced reorganization of the actin cytoskeleton. At least three 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": 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": 20, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 16, "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": "A8K6H5;Q7KZ80;Q7L3H5;Q96E10;Q99464;Q9UFU0", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0106310 protein serine kinase activity;GO:0004864 protein phosphatase inhibitor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol", "go_biological_process": "GO:1902018 negative regulation of cilium assembly;GO:0006468 protein phosphorylation;GO:0030036 actin cytoskeleton organization;GO:1900182 positive regulation of protein localization to nucleus;GO:0051650 establishment of vesicle localization", "synthesized_glycan_count": 0, "hit_score": 11.0, "record_id": "P53671-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43312-1", "uniprot_id": [ { "id": "MTSS1_HUMAN", "url": "https://www.uniprot.org/uniprot/O43312", "type": "external" } ], "mass": 82251.0, "length": 755, "protein_name": "Protein MTSS 1", "gene_name": "MTSS1", "organism": "Human", "refseq_name": "protein MTSS 1 isoform 1", "refseq_ac": [ { "id": "NP_001269900", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269900", "type": "external" } ], "gene_names_uniprotkb": "MTSS1; KIAA0429; MIM", "gene_names_refseq": "MIMA; MIMB; MIM; MTSS1", "protein_names_uniprotkb": "Protein MTSS 1; Metastasis suppressor YGL-1; Metastasis suppressor protein 1; Missing in metastasis protein", "protein_names_refseq": "MTSS1, I-BAR domain containing; metastasis suppressor 1; metastasis suppressor YGL-1; metastasis suppressor protein 1; missing in metastasis protein; protein MTSS 1 isoform 1; protein MTSS 1", "tax_id": 9606, "disease": "non-Hodgkin lymphoma (Disease Ontology:DOID:0060060); intellectual developmental disorder with ocular anomalies and distinctive facial features (Disease Ontology:DOID:0081301)", "pathway": " (hsa:9788)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "11237011;12082544;12570871;14752106;18088087;20058876;24318128;28657654;29175021;29557506;30379171;30858428;31154438;31844290;31848261;32157095;32387766;32938750;33782537;33912179;33968037;34509645;35051231;35122005;35580925;36010968;36284347;36906292;38230972;38253038;38452581", "class_list": "", "function": "A potential metastasis suppressor gene in bladder cancer; data suggest that it may be involved in cytoskeletal organization, [RefSeq, PubMed]; Downregulation of MTSS1 in acute myeloid leukemia is associated with a poor prognosis, chemotherapy resistance, and disease aggressiveness., [RefSeq, PubMed]; MTSS1 suppresses mammary tumor-initiating cells by enhancing RBCK1-mediated p65 ubiquitination., [RefSeq, PubMed]; May be related to cancer progression or tumor metastasis in a variety of organ sites, most likely through an interaction with the actin cytoskeleton., [UniProtKB]; Metastasis suppressor 1 interacts with protein tyrosine phosphatase receptor-delta to regulate adipogenesis., [RefSeq, PubMed]; Missing in metastasis protein and insulin receptor tyrosine kinase substrate p53 have a conserved novel actin bundling/filopodium-forming domain, [RefSeq, PubMed]; Prognostic value of MTSS1 gene expression on acute leukemia patients outcome., [RefSeq, PubMed]; The mechanisms behind the dual role of long non-coding RNA (lncRNA) metastasis suppressor-1 in human tumors: Shedding light on the molecular mechanisms. Review article, [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": 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": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 36, "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": "J3KNK6;Q8TCA2;Q96RX2", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0003785 actin monomer binding;GO:0005102 signaling receptor binding;GO:0005543 phospholipid binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0015629 actin cytoskeleton;GO:0030139 endocytic vesicle;GO:0001726 ruffle", "go_biological_process": "GO:0032233 positive regulation of actin filament bundle assembly;GO:0007009 plasma membrane organization;GO:0007155 cell adhesion;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0050680 negative regulation of epithelial cell proliferation", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "O43312-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NCQ5-1", "uniprot_id": [ { "id": "FBX15_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NCQ5", "type": "external" } ], "mass": 57258.0, "length": 510, "protein_name": "F-box only protein 15", "gene_name": "FBXO15", "organism": "Human", "refseq_name": "F-box only protein 15 isoform 2", "refseq_ac": [ { "id": "NP_001136430", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136430", "type": "external" } ], "gene_names_uniprotkb": "FBXO15; FBX15", "gene_names_refseq": "FBX15; FBXO15", "protein_names_uniprotkb": "F-box only protein 15", "protein_names_refseq": "F-box only protein 15 isoform 2; F-box only protein 15", "tax_id": 9606, "disease": "", "pathway": " (hsa:201456); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 135, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11062501;11069780;11237011;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22959436;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25531226;26344709;26460955;26632597;26906416;27030794;27222660;27565346;28115426;29153394;29557506;29632711;30610225;32005965;32157095;32284348;32387766;33444648;34083507;34509645;35051231;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "FBXO15 plays a critical suppressive functional role in regulation of breast cancer progression. Publication Status: Online-Only, [RefSeq, PubMed]; Members of the F-box protein family, such as FBXO15, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]., [RefSeq]; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex., [UniProtKB, 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": 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": "B3KST3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0019005 SCF ubiquitin ligase complex", "go_biological_process": "GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 13.6, "record_id": "Q8NCQ5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P80192-1", "uniprot_id": [ { "id": "M3K9_HUMAN", "url": "https://www.uniprot.org/uniprot/P80192", "type": "external" } ], "mass": 121895.0, "length": 1104, "protein_name": "Mitogen-activated protein kinase kinase kinase 9", "gene_name": "MAP3K9", "organism": "Human", "refseq_name": "mitogen-activated protein kinase kinase kinase 9 isoform 2", "refseq_ac": [ { "id": "NP_001271159", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001271159", "type": "external" } ], "gene_names_uniprotkb": "MAP3K9; MLK1; PRKE1", "gene_names_refseq": "MAP3K9; MEKK9; MLK1; PRKE1", "protein_names_uniprotkb": "Mitogen-activated protein kinase kinase kinase 9; 2.7.11.25; Mixed lineage kinase 1", "protein_names_refseq": "mitogen-activated protein kinase kinase kinase 9 isoform 2; mixed lineage kinase 1 (tyr and ser/thr specificity)", "tax_id": 9606, "disease": "", "pathway": " (hsa:4293)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "11237011;11325962;11416147;11755341;15610029;17344846;18241037;18714982;23186163;25418920;28832583;29242379;30192525;31154438;31844290;32387766;32502341;33912179;34561969;35051231;35188403;35388129;35978511;37217939;8477742", "class_list": "", "function": "CircSPI1_005 ameliorates osteoarthritis by sponging miR-370-3p to regulate the expression of MAP3K9., [RefSeq, PubMed]; Elevation of miR-125b-5p is related to improved prognosis in laryngeal squamous cell carcinoma and inhibits the malignancy and glycometabolic disorder by targeting MAP3K9., [RefSeq, PubMed]; Promoter methylation-regulated miR-148a-3p inhibits lung adenocarcinoma (LUAD) progression by targeting MAP3K9., [RefSeq, PubMed]; Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. Plays an important role in the cascades of cellular responses evoked by changes in the environment. Once activated, acts as an upstream activator of the MKK/JNK signal transduction cascade through the phosphorylation of MAP2K4/MKK4 and MAP2K7/MKK7 which in turn activate the JNKs. The MKK/JNK signaling pathway regulates stress response via activator protein-1 (JUN) and GATA4 transcription factors. Also plays a role in mitochondrial death signaling pathway, including the release cytochrome c, leading to apoptosis., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 21, "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": "A3KN85;Q0D2G7;Q6EH31;Q9H2N5", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0004706 JUN kinase kinase kinase activity;GO:0004708 MAP kinase kinase activity;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006468 protein phosphorylation;GO:0007165 signal transduction;GO:0043065 positive regulation of apoptotic process;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "P80192-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5Q9-1", "uniprot_id": [ { "id": "TF3C3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5Q9", "type": "external" } ], "mass": 101272.0, "length": 886, "protein_name": "General transcription factor 3C polypeptide 3", "gene_name": "GTF3C3", "organism": "Human", "refseq_name": "general transcription factor 3C polypeptide 3 isoform 2", "refseq_ac": [ { "id": "NP_001193703", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193703", "type": "external" } ], "gene_names_uniprotkb": "GTF3C3", "gene_names_refseq": "GTF3C3; NEDFBS; TFIIIC102; TFIIICgamma; TFiiiC2-102", "protein_names_uniprotkb": "General transcription factor 3C polypeptide 3; TF3C-gamma; TFIIIC 102 kDa subunit; TFIIIC102; Transcription factor IIIC 102 kDa subunit; Transcription factor IIIC subunit gamma", "protein_names_refseq": "TF3C-gamma; TFIIIC 102 kDa subunit; general transcription factor 3C polypeptide 3 isoform 2; general transcription factor 3C polypeptide 3; general transcription factor IIIC, polypeptide 3, 102kDa; transcription factor IIIC subunit gamma", "tax_id": 9606, "disease": "neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures (MONDO:MONDO:0978301)", "pathway": " (hsa:9330); (R-HSA-749476); (R-HSA-76061); (R-HSA-76066)", "pathway_count": 4, "publication_count": 100, "publication_id_list": "10373544;11237011;11419933;11965497;12381659;18452278;18669648;19413330;1946469;19651622;19664995;19690332;20068231;21406692;22223895;23186163;23481700;2404611;24715725;25418920;25576301;25880248;25892735;26154972;26375851;26811146;26929215;26992070;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28411811;28514659;28649982;28832583;28834231;28904123;29242379;29393594;29437277;29508533;29557506;29632046;29786170;30315122;30410026;30429286;30552426;30779550;30833945;31092671;31154438;31217245;31844290;31848261;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33968037;33981976;34087483;34171305;34185709;34357683;34405274;34509645;34932366;35051231;35561310;35580925;36010968;36241641;39636576;40040844;7568218;7995525;8407894;8423814;9171375;9312031", "class_list": "", "function": "DEDD and FLAME-3 form nuclear complexes with TFIIIC102, [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]; The protein encoded by this gene is part of the TFIIIC2 complex, which binds to the promoters of small nuclear and cytoplasmic RNA genes in order to recruit RNA polymerase III. The TFIIIC2 complex is composed of six subunits. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q4ZG48;Q86XJ8;Q8WX84;Q96B44;Q9H5I8;Q9NT97", "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:0031965 nuclear membrane;GO:0001650 fibrillar center", "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": 10.3, "record_id": "Q9Y5Q9-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60381-1", "uniprot_id": [ { "id": "HBP1_HUMAN", "url": "https://www.uniprot.org/uniprot/O60381", "type": "external" } ], "mass": 57645.0, "length": 514, "protein_name": "HMG box-containing protein 1", "gene_name": "HBP1", "organism": "Human", "refseq_name": "HMG box-containing protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001231191", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231191", "type": "external" } ], "gene_names_uniprotkb": "HBP1", "gene_names_refseq": "HBP1", "protein_names_uniprotkb": "HMG box-containing protein 1; HMG box transcription factor 1; High mobility group box transcription factor 1", "protein_names_refseq": "HMG box-containing protein 1 isoform 1; HMG box-containing protein 1; high mobility group box transcription factor 1", "tax_id": 9606, "disease": "osteoarthritis (Disease Ontology:DOID:8398)", "pathway": " (hsa:26959)", "pathway_count": 1, "publication_count": 73, "publication_id_list": "10562551;10958660;11237011;11486012;11500377;14612426;23481700;25418920;25576301;25645385;25880248;26154972;26375851;26992070;27600516;27846572;27862975;27920218;28218747;28832583;28834231;28904123;29242379;29331515;29351928;29355710;29493099;29508533;29557506;29632711;29786170;29911972;30059200;30315122;30410026;30429286;30779550;31154438;31217245;31222486;31530632;31844290;31848261;32157095;32350084;32357974;32387766;32488085;32502341;32677158;32938616;32964956;32983136;33123756;33141586;33327874;33592498;33691108;33717175;33968037;33981976;34013373;34087483;34405274;34509645;35051231;35318648;35561310;35580925;36284347;37414199;37938771;9030690", "class_list": "", "function": "HBP1 deficiency protects against stress-induced premature senescence of nucleus pulposus., [RefSeq, PubMed]; HBP1 regulates the cell cycle in liver regeneration and provides evidence for a role in tissue maintenance. Erratum:[Mol Cell Biol 2001 Nov;21(21):7535], [RefSeq, PubMed]; HBP1 was isolated as a cell cycle inhibitor and HMG-box transcriptional repressor., [RefSeq, PubMed]; MiR-146b Functions as an Oncogene in Oral Squamous Cell Carcinoma by Targeting HBP1., [RefSeq, PubMed]; Regulatory role of transcription factor HBP1 in anticancer efficacy of EGFR inhibitor erlotinib in HNSCC., [RefSeq, PubMed]; Targeting of HBP1/TIMP3 axis as a novel strategy against breast cancer., [RefSeq, PubMed]; Transcriptional repressor that binds to the promoter region of target genes. Plays a role in the regulation of the cell cycle and of the Wnt pathway. Binds preferentially to the sequence 5'-TTCATTCATTCA-3'. Binding to the histone H1.0 promoter is enhanced by interaction with RB1. Disrupts the interaction between DNA and TCF4., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; UHRF1 regulates the transcriptional repressor HBP1 through MIF in T acute lymphoblastic leukemia., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B3KVB7;Q8TBM1;Q8TE93;Q96AJ2", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA 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:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0016607 nuclear speck;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0016055 Wnt signaling pathway;GO:0051726 regulation of cell cycle;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 7.6, 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(R-HSA-5690714); (R-HSA-9664323); (R-HSA-9664422); (R-HSA-9679191); (R-HSA-977606); (R-HSA-983695)", "pathway_count": 19, "publication_count": 535, "publication_id_list": 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"class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin heavy 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, 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"class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). 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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": 528, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A0B4J2B7;P01769;P01770;P01773", "ec_number_list": [], "go_molecular_function": "GO:0003823 antigen binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0019814 immunoglobulin complex", "go_biological_process": "GO:0006955 immune response;GO:0016064 immunoglobulin mediated immune response", "synthesized_glycan_count": 0, "hit_score": 53.8, "record_id": "P01768-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00001", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13555-1", "uniprot_id": [ { "id": "KCC2G_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13555", "type": "external" } ], "mass": 62607.0, "length": 558, "protein_name": "Calcium/calmodulin-dependent protein kinase type II subunit gamma", "gene_name": "CAMK2G", "organism": "Human", "refseq_name": "calcium/calmodulin-dependent protein kinase type II subunit gamma isoform 7", "refseq_ac": [ { "id": "NP_001191421", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191421", "type": "external" } ], "gene_names_uniprotkb": "CAMK2G; CAMK-II; CAMKG; CAMK", "gene_names_refseq": "CAMK-II; CAMK2G; CAMKG; CAMK; MRD59", "protein_names_uniprotkb": "Calcium/calmodulin-dependent protein kinase type II subunit gamma; 2.7.11.17; CaM kinase II subunit gamma; CaMK-II subunit gamma", "protein_names_refseq": "caMK-II subunit gamma; calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma; calcium/calmodulin-dependent protein kinase type II subunit gamma isoform 7; calcium/calmodulin-dependent protein kinase type II subunit gamma", "tax_id": 9606, "disease": "autosomal dominant intellectual developmental disorder 59 (Disease Ontology:DOID:0061033); heart conduction disease (Disease Ontology:DOID:10273); malignant astrocytoma (Disease Ontology:DOID:3069)", "pathway": " (hsa:818); (R-HSA-111932); (R-HSA-3371571); (R-HSA-399719); (R-HSA-438066); (R-HSA-442729); (R-HSA-442982); (R-HSA-5576892); (R-HSA-5578775); (R-HSA-5673000); (R-HSA-5673001); (R-HSA-6802946); (R-HSA-6802952); (R-HSA-6802955); (R-HSA-877300); (R-HSA-9022692); (R-HSA-936837); (R-HSA-9609736); (R-HSA-9617324); (R-HSA-9620244); (R-HSA-9649948); (R-HSA-9656223); (R-HSA-9918481)", "pathway_count": 23, "publication_count": 386, "publication_id_list": "10.1101/2023.09.13.557529;10067896;10205168;10220561;10373510;10401004;10484781;10508167;10615129;10712905;10767338;10869344;10891492;10913253;10986460;11027663;11032810;11062458;11090077;11136978;11237011;11290418;11313946;11325826;11447121;11494123;11546808;11702783;11741534;11747608;11756411;11904675;11972023;12032311;12032636;12040185;12068308;12094235;12119109;12121613;12244094;12438563;12446674;12551923;12807427;12815021;12832055;12915721;12932319;12932339;12953268;1309946;1396683;14500339;14506247;14519844;14530258;14565989;14586410;14622581;14707138;14722083;14722222;14761894;14762106;15000524;15035987;15084397;1508672;15143187;15174025;15258589;15260953;15270074;15294044;15322089;15322115;15356145;15388922;1545823;15467451;15530433;15546878;15591024;15598648;15630448;15710605;15711535;15754088;15760475;15831496;15899852;15919184;15925480;16041367;16093354;16182249;16237089;16278289;16294014;16364920;16467876;16508002;16537381;1656976;16627759;16630891;16684964;16690701;16700898;16702958;16754674;1693919;17018604;17046689;17081983;17097642;17125875;1716764;17216044;17224452;17357072;17486119;17603482;17603483;17855605;17994015;17997397;17998941;18088385;18184654;18294816;18311135;18362138;18562239;18591661;18662992;18669648;18691976;18723824;18775330;18974108;1898771;18995841;19049963;19158341;19225110;19278978;19279408;19331822;19345671;19369195;19406745;19467855;19541618;19684605;19727074;19751721;19820693;19878721;19920141;19933846;20049711;20052757;20058876;20068231;20130243;20130576;20141835;20179705;20304997;20363976;20388710;20478380;20526349;20668654;20674547;20820846;21102635;21108950;21127204;21372320;21424530;21441104;21441910;21514245;21566136;2160952;2162839;21779496;21779497;21779505;21784453;21817159;21911577;21993244;22043453;22054663;22186024;22210847;2226863;22292133;22427649;22427672;22510884;22514276;22569528;22589270;22592532;22707725;22745804;22750304;22768106;22826437;22972900;23033978;23061660;23103841;23186163;23196729;23289753;23303910;23352452;23360980;23362265;23443682;23453624;23549614;23575685;23583981;23610579;23613689;23680146;23770565;23770587;23804213;23863182;23875798;23906342;23993095;24121058;24121489;24135138;24202393;24211266;24275569;2430951;24345920;24347342;24392018;24417533;24651010;2477373;24897931;24937142;24957944;25204415;25219551;25435214;2559024;25781681;25907612;25965804;25994790;26085527;26092250;26214590;26239616;26343583;26361740;26791827;27067231;27108190;27147617;27264673;27999210;28082416;28289718;2838329;28449373;28645727;28666118;28778966;28832583;28984291;29059213;29242379;29391954;29461827;2953725;29557506;29737974;29902443;30184290;30429286;30590034;30599162;31135801;31154438;31848261;31998317;32157095;32439852;32863217;32938616;32983136;33177556;33239784;33968037;34019948;34088288;34357683;35051231;35215846;35580925;35680515;36215666;36284347;36738427;37040575;6148751;6328127;6832622;7510216;7514165;7530745;7542586;7557101;7615558;7617032;7626145;7657660;7673114;7690989;7702581;7744815;7796299;7809086;7929371;7935463;7972015;8045293;8052307;8107964;8156998;8176225;8298639;8394845;8449910;8455624;8483949;8490646;8490659;8493579;8521512;8521513;8521514;8530158;8550631;8631301;8637718;8665852;8702940;8710374;8798450;8876196;8918259;8939933;8946910;9020159;9060999;9111318;9143706;9147644;9234708;9240463;9307043;9346285;9604935;9620804;9648857;9689060;9744891;9823899;9858547;9927426", "class_list": "", "function": "Ca[2+]/Calmodulin-Dependent Protein Kinase II Disrupts the Voltage Dependency of the Voltage-Dependent Anion Channel on the Lipid Bilayer Membrane., [RefSeq, PubMed]; Calcium/calmodulin-dependent protein kinase that functions autonomously after Ca(2+)/calmodulin-binding and autophosphorylation, and is involved in sarcoplasmic reticulum Ca(2+) transport in skeletal muscle and may function in dendritic spine and synapse formation and neuronal plasticity (PubMed:16690701). In slow-twitch muscles, is involved in regulation of sarcoplasmic reticulum (SR) Ca(2+) transport and in fast-twitch muscle participates in the control of Ca(2+) release from the SR through phosphorylation of the ryanodine receptor-coupling factor triadin (PubMed:16690701). In the central nervous system, it is involved in the regulation of neurite formation and arborization (PubMed:30184290). It may participate in the promotion of dendritic spine and synapse formation and maintenance of synaptic plasticity which enables long-term potentiation (LTP) and hippocampus-dependent learning. In response to interferon-gamma (IFN-gamma) stimulation, catalyzes phosphorylation of STAT1, stimulating the JAK-STAT signaling pathway (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]; Impacts of altered exercise volume, intensity, and duration on the activation of AMPK and CaMKII and increases in PGC-1alpha mRNA. Review article, [RefSeq, PubMed]; NETO2 promotes melanoma progression via activation of the Ca[2+]/CaMKII signaling pathway., [RefSeq, PubMed]; The product of this gene is one of the four subunits of an enzyme which belongs to the serine/threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a gamma chain. Many alternatively spliced transcripts encoding different isoforms have been described but the full-length nature of all the variants has not been determined.[provided by RefSeq, Mar 2011]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, 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"https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "7.2.2.10", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.10", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": 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{ "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "2.7.1.107", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.107", "type": "external" }, { "id": "2.7.1.94", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.94", "type": "external" }, { "id": "2.7.1.138", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.138", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.7.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.-", "type": "external" }, { "id": "2.7.7.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.19", "type": "external" }, { "id": "1.14.11.65", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.65", "type": "external" }, { "id": "3.1.31.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.31.1", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0005516 calmodulin binding;GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0004723 calcium-dependent protein serine/threonine phosphatase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0014069 postsynaptic density;GO:0016020 membrane", "go_biological_process": "GO:0007399 nervous system development;GO:0030154 cell differentiation;GO:0051924 regulation of calcium ion transport;GO:1903076 regulation of protein localization to plasma membrane;GO:0010975 regulation of neuron projection development", "synthesized_glycan_count": 0, "hit_score": 39.1, "record_id": "Q13555-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P31152-1", "uniprot_id": [ { "id": "MK04_HUMAN", "url": "https://www.uniprot.org/uniprot/P31152", "type": "external" } ], "mass": 65922.0, "length": 587, "protein_name": "Mitogen-activated protein kinase 4", "gene_name": "MAPK4", "organism": "Human", "refseq_name": "mitogen-activated protein kinase 4 isoform 3", "refseq_ac": [ { "id": "NP_001278969", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278969", "type": "external" } ], "gene_names_uniprotkb": "MAPK4; ERK4; PRKM4", "gene_names_refseq": "ERK-4; ERK4; MAPK4; PRKM4; p63-MAPK; p63MAPK", "protein_names_uniprotkb": "Mitogen-activated protein kinase 4; 2.7.11.24; ERK-4; Extracellular signal-regulated kinase 4; MAP kinase 4; MAP kinase isoform p63; MAPK 4; p63-MAPK", "protein_names_refseq": "Erk3-related; MAPK 4; extracellular signal-regulated kinase 4; mitogen-activated protein kinase 4 isoform 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:5596); (R-HSA-5687128)", "pathway_count": 2, "publication_count": 87, "publication_id_list": "10470034;10975528;11237011;11584266;11804587;12546821;12808096;12915405;1319925;15226418;15538386;15577943;16360641;16371649;16971392;16973613;17161475;17254968;17344846;17395884;17728103;17947239;18031682;18162290;18235225;18248330;18593949;18644862;18669648;18720373;19166925;19473979;19513348;19593530;20236090;20536836;20543837;20734105;20849292;21177870;21317288;21329875;21329882;21372320;22267219;22279049;22505454;22508986;22800433;23069990;23186163;23878308;24309468;24585635;25339975;25645385;25802875;28252035;31154438;31844290;32157095;32265295;32357974;32897882;32938616;32983136;33691108;33968037;34932366;35051231;35251023;35318648;35413271;35561310;35580925;36010968;36073321;36241641;37494889;37531320;38279470;7559638;7799959;8107774;9535855;9628874;9747882", "class_list": "", "function": "Atypical MAPK protein. Phosphorylates microtubule-associated protein 2 (MAP2) and MAPKAPK5. The precise role of the complex formed with MAPKAPK5 is still unclear, but the complex follows a complex set of phosphorylation events: upon interaction with atypical MAPKAPK5, ERK4/MAPK4 is phosphorylated at Ser-186 and then mediates phosphorylation and activation of MAPKAPK5, which in turn phosphorylates ERK4/MAPK4. May promote entry in the cell cycle (By similarity)., [UniProtKB]; Cooperative activation of PDK1 and AKT by MAPK4 enhances cancer growth and resistance to therapy. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic Polymorphisms of rs9949644 in MAPK4 Are Associated with Clinical Response to Methotrexate in Patients with Psoriasis., [RefSeq, PubMed]; LINC00467 enhanced the proliferative, migratory and invasive ability of breast cancer cells by targeting miR-18a/b-5p/MAPK4 axis. Publication Status: Online-Only, [RefSeq, PubMed]; Mitogen-activated protein kinase 4 is a member of the mitogen-activated protein kinase family. Tyrosine kinase growth factor receptors activate mitogen-activated protein kinases which then translocate into the nucleus and phosphorylate nuclear targets. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]., [RefSeq]; Promotor methylation status of MAPK4 is a novel epigenetic biomarker for prognosis of recurrence in patients with thymic epithelial 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": 5, "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": "A1A4C4;Q0VG04", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0019901 protein kinase binding;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005769 early endosome", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0035556 intracellular signal transduction;GO:0072584 caveolin-mediated endocytosis;GO:2000641 regulation of early endosome to late endosome transport;GO:0007173 epidermal growth factor receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "P31152-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N108-11", "uniprot_id": [ { "id": "MIER1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N108", "type": "external" } ], "mass": 57983.0, "length": 512, "protein_name": "Mesoderm induction early response protein 1", "gene_name": "MIER1", "organism": "Human", "refseq_name": "mesoderm induction early response protein 1 isoform b", "refseq_ac": [ { "id": "NP_001071168", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001071168", "type": "external" } ], "gene_names_uniprotkb": "MIER1; KIAA1610", "gene_names_refseq": "ER1; MI-ER1; MIER1", "protein_names_uniprotkb": "Mesoderm induction early response protein 1; Early response 1; Er1; Mi-er1; hMi-er1", "protein_names_refseq": "mesoderm induction early response 1 homolog; mesoderm induction early response 1, transcriptional regulator; mesoderm induction early response protein 1 isoform b; mesoderm induction early response protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:57708)", "pathway_count": 1, "publication_count": 70, "publication_id_list": "12242014;12482978;15117948;17081983;18077418;18452278;18665173;18669648;19007248;19061646;19413330;19415658;19651622;19664994;19690332;19691289;20068231;21406692;23186163;23481700;24275569;24714562;25218447;25576301;25645385;25892735;26154972;26728094;26992070;27846572;27920218;28228285;28832583;28834231;28904123;29242379;29371260;29393594;29493099;29557506;29632711;29769354;29786170;30315122;30429286;31844290;32157095;32357974;32387766;32938616;32983136;33141586;33298915;33392160;33717175;33912179;33968037;33981976;34171305;34185709;34561969;35051231;35580925;36010968;36241641;36284347;36581221;37099381;37938771;9813250", "class_list": "", "function": "A potential histone-chaperone activity for the MIER1 histone deacetylase complex., [RefSeq, PubMed]; Loss of nuclear MI-ER1 alpha might contribute to the development of invasive breast carcinoma, [RefSeq, PubMed]; Results demonstrate that alternate use of a facultative intron regulates the subcellular localization of hMI-ER1 proteins and this may have important implications for hMI-ER1 function., [RefSeq, PubMed]; The association of hMI-ER1 with Sp1 represents a novel mechanism for the negative regulation of Sp1 target promoters, [RefSeq, PubMed]; This gene encodes a protein that was first identified in Xenopus laevis by its role in a mesoderm induction early response (MIER). The encoded protein functions as a transcriptional regulator. Alternatively spliced transcript variants encode multiple isoforms, some of which lack a C-terminal nuclear localization signal. [provided by RefSeq, May 2013]., [RefSeq]; Transcriptional repressor regulating the expression of a number of genes including SP1 target genes. Probably functions through recruitment of HDAC1 a histone deacetylase involved in chromatin silencing., [UniProtKB, PubMed]; We investigated the role of hMI-ER1alpha and hMI-ER1beta in the regulation of transcription.We demonstrate that this repressor activity is due to interaction and recruitment of a trichostatin A-sensitive histone deacetylase 1 (HDAC1)., [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": 24, "reported_mutagensis": 2, "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": "C9JFD4;Q08AE0;Q32NC4;Q5T104;Q5TAD1;Q5TAD2;Q5TAD4;Q5TAD5;Q6AHY8;Q86TB4;Q8N156;Q8N161;Q8NC37;Q8NES4;Q8NES5;Q8NES6;Q8WWG2;Q9HCG2", "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:0005737 cytoplasm;GO:0017053 transcription repressor complex;GO:0032991 protein-containing complex", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription;GO:0043123 positive regulation of canonical NF-kappaB signal transduction", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q8N108-11", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7L0Y3-1", "uniprot_id": [ { "id": "TM10C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7L0Y3", "type": "external" } ], "mass": 47347.0, "length": 403, "protein_name": "tRNA methyltransferase 10 homolog C", "gene_name": "TRMT10C", "organism": "Human", "refseq_name": "tRNA methyltransferase 10 homolog C precursor", "refseq_ac": [ { "id": "NP_060289", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060289", "type": "external" } ], "gene_names_uniprotkb": "TRMT10C; MRPP1; RG9MTD1", "gene_names_refseq": "COXPD30; HNYA; MRPP1; RG9MTD1; TRMT10C", "protein_names_uniprotkb": "tRNA methyltransferase 10 homolog C; 2.1.1.-; 2.1.1.218; 2.1.1.221; HBV pre-S2 trans-regulated protein 2; Mitochondrial RNase P protein 1; Mitochondrial ribonuclease P protein 1; RNA (guanine-9-)-methyltransferase domain-containing protein 1; Renal carcinoma antigen NY-REN-49; mRNA methyladenosine-N(1)-methyltransferase; tRNA (adenine(9)-N(1))-methyltransferase; tRNA (guanine(9)-N(1))-methyltransferase", "protein_names_refseq": "HBV pre-S2 trans-regulated protein 2; RNA (guanine-9-) methyltransferase domain containing 1; mRNA methyladenosine-N(1)-methyltransferase; mitochondrial RNase P subunit 1; mitochondrial ribonuclease P protein 1; renal carcinoma antigen NY-REN-49; tRNA (adenine(9)-N(1))-methyltransferase; tRNA (guanine(9)-N(1))-methyltransferase; tRNA methyltransferase 10 homolog C precursor; tRNA methyltransferase 10 homolog C", "tax_id": 9606, "disease": "combined oxidative phosphorylation deficiency 30 (Disease Ontology:DOID:0111471)", "pathway": " (hsa:54931); (R-HSA-6785470); (R-HSA-6787450); (R-HSA-8868766)", "pathway_count": 4, "publication_count": 75, "publication_id_list": "10508479;11237011;11504732;12456664;12546731;12621050;15509579;16826519;17924679;18984158;19732863;20068231;21559454;21593607;21857155;21890497;22336717;22608499;22991464;23042678;23097428;23301498;23473034;23625533;23814040;23849775;23929671;24126054;24703694;24901367;25193871;25552653;25652405;25925575;25928769;25953853;26016801;26992070;27132592;27846572;28510447;28832583;28834231;28904123;29040705;29072297;29242379;29390138;29760464;30192525;30315122;30429286;31217245;31844290;32047918;32157095;32387766;32938616;32983136;33141586;33392160;33465208;33537174;34087483;34171305;34229054;34489609;34932366;35051231;36215666;36241641;37217939;37938771;40596516;9512533", "class_list": "", "function": "MRPP1 is essential for transcript processing, RNA modification, translation and mitochondrial respiration., [RefSeq, PubMed]; Mitochondrial tRNA N(1)-methyltransferase involved in mitochondrial tRNA maturation (PubMed:18984158, PubMed:21593607, PubMed:23042678, PubMed:27132592). 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). Together with HSD17B10/MRPP2, forms a subcomplex of the mitochondrial ribonuclease P, named MRPP1-MRPP2 subcomplex, which displays functions that are independent of the ribonuclease P activity (PubMed:23042678, PubMed:29040705). The MRPP1-MRPP2 subcomplex catalyzes the formation of N(1)-methylguanine and N(1)-methyladenine at position 9 (m1G9 and m1A9, respectively) in tRNAs; TRMT10C/MRPP1 acting as the catalytic N(1)-methyltransferase subunit (PubMed:23042678). The MRPP1-MRPP2 subcomplex also acts as a tRNA maturation platform: following 5'-end cleavage by the mitochondrial ribonuclease P complex, the MRPP1-MRPP2 subcomplex enhances the efficiency of 3'-processing catalyzed by ELAC2, retains the tRNA product after ELAC2 processing and presents the nascent tRNA to the mitochondrial CCA tRNA nucleotidyltransferase TRNT1 enzyme (PubMed:29040705). In addition to tRNA N(1)-methyltransferase activity, TRMT10C/MRPP1 also acts as a mRNA N(1)-methyltransferase by mediating methylation of adenosine residues at the N(1) position of MT-ND5 mRNA (PubMed:29072297). Associates with mitochondrial DNA complexes at the nucleoids to initiate RNA processing and ribosome assembly., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Structural basis of RNA processing by human mitochondrial RNase P., [RefSeq, PubMed]; This gene encodes the precursor of a subunit of the mitochondrial ribonuclease P, which is involved in 5' processing of mitochondrial tRNAs. The encoded protein may confer RNA-binding capacity to mitochondrial ribonuclease P and may be essential for transcript processing, RNA modification, translation and mitochondrial respiration. [provided by RefSeq, Nov 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 8, "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": "Q9NRG5;Q9NX54;Q9Y596", "ec_number_list": [ { "id": "3.1.26.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.5", "type": "external" }, { "id": "2.1.1.221", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.221", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "2.1.1.218", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.218", "type": "external" }, { "id": "2.1.1.220", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.220", "type": "external" }, { "id": "1.1.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.35", "type": "external" }, { "id": "1.1.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.62", "type": "external" }, { "id": "1.1.1.239", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.239", "type": "external" }, { "id": "1.1.1.178", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.178", "type": "external" }, { "id": "1.1.1.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.53", "type": "external" }, { "id": "1.1.1.159", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.159", "type": "external" }, { "id": "3.1.26.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.11", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0042802 identical protein binding;GO:0000049 tRNA binding;GO:0052905 tRNA (guanosine(9)-N1)-methyltransferase activity;GO:0160106 tRNA (adenine(9)-N1)-methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0042645 mitochondrial nucleoid", "go_biological_process": "GO:0000964 mitochondrial RNA 5'-end processing;GO:0006397 mRNA processing;GO:0070131 positive regulation of mitochondrial translation;GO:0042780 tRNA 3'-end processing;GO:0070901 mitochondrial tRNA methylation", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q7L0Y3-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WTP9-1", "uniprot_id": [ { "id": "XAGE3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WTP9", "type": "external" } ], "mass": 12302.0, "length": 111, "protein_name": "X antigen family member 3", "gene_name": "XAGE3", "organism": "Human", "refseq_name": "X antigen family member 3", "refseq_ac": [ { "id": "NP_570132", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_570132", "type": "external" } ], "gene_names_uniprotkb": "XAGE3; GAGED4; PLAC6; PP9012", "gene_names_refseq": "CT12.3a; CT12.3b; GAGED4; PLAC6; XAGE-3; XAGE3; pp9012", "protein_names_uniprotkb": "X antigen family member 3; CT12.3; Cancer/testis antigen 12.3; G antigen family D member 4; Placenta-specific gene 6 protein; XAGE-3", "protein_names_refseq": "CT12.3; G antigen, family D, 4; X antigen family member 3; cancer/testis antigen 12.3; cancer/testis antigen family 12, member 3a; cancer/testis antigen family 12, member 3b; g antigen family D member 4; placenta-specific 6; placenta-specific gene 6 protein; protein XAGE-3", "tax_id": 9606, "disease": "", "pathway": " (hsa:170626)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11992404;15498874;31844290", "class_list": "", "function": "This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is expressed in placenta and fetal liver/spleen, and may function in inhibiting cancer cell growth. The protein encoded by this gene shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. Alternative splicing of this gene generates 2 transcript variants differing in the 5' UTR. [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": "Q5JS82;Q8WYS9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q8WTP9-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96EK7-1", "uniprot_id": [ { "id": "F120B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96EK7", "type": "external" } ], "mass": 103783.0, "length": 910, "protein_name": "Constitutive coactivator of peroxisome proliferator-activated receptor gamma", "gene_name": "FAM120B", "organism": "Human", "refseq_name": "constitutive coactivator of peroxisome proliferator-activated receptor gamma isoform d", "refseq_ac": [ { "id": "NP_001273310", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273310", "type": "external" } ], "gene_names_uniprotkb": "FAM120B; CCPG; KIAA1838", "gene_names_refseq": "CCPG; FAM120B; KIAA1838; PGCC1; SAN1; dJ894D12.1", "protein_names_uniprotkb": "Constitutive coactivator of peroxisome proliferator-activated receptor gamma; Constitutive coactivator of PPAR-gamma; Constitutive coactivator of PPARG; PGCC1; PPARG constitutive coactivator 1; Protein FAM120B", "protein_names_refseq": "PPARG constitutive coactivator 1; PPARgamma constitutive coactivator 1; constitutive coactivator of PPAR-gamma; constitutive coactivator of peroxisome proliferator-activated receptor gamma isoform d; constitutive coactivator of peroxisome proliferator-activated receptor gamma; family with sequence similarity 120B; senataxin-associated nuclease 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:84498); (R-HSA-1989781); (R-HSA-381340)", "pathway_count": 3, "publication_count": 108, "publication_id_list": "10075656;10425206;10777541;11095972;11237011;11267664;11872672;12118000;12177166;12213831;12505311;12582161;12829629;14585507;15067378;15130092;15273253;15635043;15850785;15919796;16380219;16972786;17011499;17595322;17980149;18540824;18719978;18848529;18931025;19043829;19088433;19115207;19172745;19710929;19934321;20101261;20110263;20112406;23239344;23481700;24129315;24196956;24714562;24715725;25576301;25880248;25892735;26154972;26992070;27397612;27846572;27920218;28832583;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29968717;30484775;31217245;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34339838;34509645;34561969;34932366;35051231;35580925;36010968;36241641;36284347;39302247;7685352;7892212;8325954;8643605;8647822;8706692;8770873;8970730;9012850;9065481;9454824;9748239;9836620", "class_list": "", "function": "Functions as a transactivator of PPARG and ESR1. Functions in adipogenesis through PPARG activation (By similarity)., [UniProtKB]; Functions as a transactivator of PPARG and ESR1. Functions in adipogenesis through PPARG activation., [UniProtKB, UniProtKB, UniProtKB]; San1 deficiency leads to cardiomyopathy due to excessive R-loop-associated DNA damage and cardiomyocyte hypoplasia., [RefSeq, PubMed]; Study report a previously uncharacterized protein, SAN1, the Fam120b gene product, as a 5' exonuclease that acts independently of the Fanconi anemia pathway in response to inter-strand DNA cross-links (ICLs). Deletion of SAN1 in HeLa cells and mouse embryonic fibroblasts causes sensitivity to ICLs. SAN1 binds to senataxin (SETX). SAN1-SETX binding is increased by ICLs and is required to prevent cross-link sensitivity. 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": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DL34;Q86V68;Q96JI9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045444 fat cell differentiation;GO:0035357 peroxisome proliferator activated receptor signaling pathway;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "Q96EK7-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JQS6-1", "uniprot_id": [ { "id": "GSAML_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JQS6", "type": "external" } ], "mass": 15712.0, "length": 135, "protein_name": "Germinal center-associated signaling and motility-like protein", "gene_name": "GCSAML", "organism": "Human", "refseq_name": "germinal center-associated signaling and motility-like protein isoform b", "refseq_ac": [ { "id": "NP_001268763", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268763", "type": "external" } ], "gene_names_uniprotkb": "GCSAML; C1orf150", "gene_names_refseq": "C1orf150; GCSAML", "protein_names_uniprotkb": "Germinal center-associated signaling and motility-like protein", "protein_names_refseq": "germinal center-associated signaling and motility-like protein isoform b; germinal center-associated signaling and motility-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:148823)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;28832583;29314611;29545821;29557506;31848261", "class_list": "", "function": "Maternal 5mCpG imprints at the GCSAML somatic (secondary) differentially methylated region (iDMR) are decoupled from parent-of-origin expression effects in multiple human tissues. Despite the constitutive methylation asymmetry observed for the parental alleles at the iDMR, GCSAML was expressed biallelically in five tissues: visceral adipose tissue, brain - cerebellar hemisphere, brain cerebellum, prostate, and testis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein thought to be a signaling molecule associated with germinal centers, the sites of proliferation and differentiation of mature B lymphocytes. 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B2R4Y5;B3KX46;Q5JQT3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0050855 regulation of B cell receptor signaling pathway;GO:2000401 regulation of lymphocyte migration", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q5JQS6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96D42-1", "uniprot_id": [ { "id": "HAVR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96D42", "type": "external" } ], "mass": 39250.0, "length": 364, "protein_name": "Hepatitis A virus cellular receptor 1", "gene_name": "HAVCR1", "organism": "Human", "refseq_name": "hepatitis A virus cellular receptor 1 isoform a precursor", "refseq_ac": [ { "id": "NP_001166864", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166864", "type": "external" } ], "gene_names_uniprotkb": "HAVCR1; KIM1; TIM1; TIMD1", "gene_names_refseq": "CD365; HAVCR-1; HAVCR1; HAVCR; KIM-1; KIM1; TIM-1; TIM1; TIMD-1; TIMD1; TIM", "protein_names_uniprotkb": "Hepatitis A virus cellular receptor 1; HAVcr-1; KIM-1; Kidney injury molecule 1; T-cell immunoglobulin and mucin domain-containing protein 1; T-cell immunoglobulin mucin receptor 1; T-cell membrane protein 1; TIM-1; TIMD-1; TIM", "protein_names_refseq": "T cell immunoglobin domain and mucin domain protein 1; T-cell immunoglobulin mucin family member 1; T-cell immunoglobulin mucin receptor 1; T-cell membrane protein 1; hepatitis A virus cellular receptor 1 isoform a precursor; kidney injury molecule 1", "tax_id": 9606, "disease": "colitis (Disease Ontology:DOID:0060180); hypertension (Disease Ontology:DOID:10763); essential hypertension (Disease Ontology:DOID:10825); hydronephrosis (Disease Ontology:DOID:11111); acute kidney tubular necrosis (Disease Ontology:DOID:12556); renovascular hypertension (Disease Ontology:DOID:1591); hyperuricemia (Disease Ontology:DOID:1920); relapsing-remitting multiple sclerosis (Disease Ontology:DOID:2378); nephrosis (Disease Ontology:DOID:2527); asthma (Disease Ontology:DOID:2841); IgA glomerulonephritis (Disease Ontology:DOID:2986); acute kidney failure (Disease Ontology:DOID:3021); atopic dermatitis (Disease Ontology:DOID:3310); renal cell carcinoma (Disease Ontology:DOID:4450); kidney disease (Disease Ontology:DOID:557); proteinuria (Disease Ontology:DOID:576); hepatocellular carcinoma (Disease Ontology:DOID:684); chronic kidney disease (Disease Ontology:DOID:784); vesicoureteral reflux (Disease Ontology:DOID:9620)", "pathway": " (hsa:26762); (R-HSA-9694614); (R-HSA-9918485)", "pathway_count": 3, "publication_count": 95, "publication_id_list": "11237011;11337487;11725301;12138159;12618867;12682107;14534576;15010527;15098107;15140961;15163706;15474033;15507651;15838506;16962401;17229699;17471468;18082433;18266465;18414680;18669648;21068237;21325420;21536871;22496216;22816037;23084921;23105391;23658209;24074594;24227843;24703780;26056282;26212330;26311884;26468529;26487564;26726878;26953343;27277342;27550352;27832191;29437974;29557506;29610346;29742433;30459171;31720911;31844290;32125455;32142651;32179150;32362314;32488085;32512386;32532959;32641828;32653452;32703818;32970989;32995803;33082293;33082294;33298900;33493182;33493263;33494095;33554856;33774649;34023935;34159616;34171305;34179075;34235261;34235568;34324210;34357683;34359995;34431042;34510494;34542788;34561887;34611326;34732583;34782609;34929169;35051231;35343766;37074911;37926453;37958774;38287815;38735439;9658108;9931503", "class_list": "", "function": "(Microbial infection) Acts as a receptor for Dengue virus by binding exposed phosphatidyl-serine at the surface of virion membrane (PubMed:23084921). TIM1 and Dengue virus are co-internalized during virus entry (PubMed:29742433)., [UniProtKB, PubMed, PubMed]; (Microbial infection) Acts as a receptor for Ebolavirus and Marburg virus by binding exposed phosphatidyl-serine at the surface of virion membrane (PubMed:21536871). Serves as a dual receptor for Ebolavirus by also interacting with envelope glycoprotein GP (PubMed:26487564)., [UniProtKB, PubMed, PubMed]; (Microbial infection) Acts as a receptor for Hepatitis A virus., [UniProtKB, PubMed, PubMed]; (Microbial infection) Acts as a receptor for Zika virus by binding to envelope protein E., [UniProtKB, PubMed]; (Microbial infection) Plays a positive role in Chikungunya virus cell entry., [UniProtKB, PubMed]; Asthma susceptibility gene, [RefSeq, PubMed]; Clinical significance of elevated soluble T-cell immunoglobulin and mucin domain 1 and soluble P-selectin in individuals with obstructive sleep apnea-hypopnea syndrome., [RefSeq, PubMed]; KIM-1, IL-18, and NGAL, in the Machine Learning Prediction of Kidney Injury among Children Undergoing Hematopoietic Stem Cell Transplantation-A Pilot Study. Publication Status: Online-Only, [RefSeq, PubMed]; Phosphatidylserine receptor that plays an important functional role in regulatory B-cell homeostasis including generation, expansion and suppressor functions (PubMed:18082433, PubMed:18414680). Involved in efferocytosis, the process by which apoptotic cells are removed, by binding to phosphatidylserine present on apoptotic cells and promoting their engulfment (PubMed:18082433). Confers phagocytic ability on injured kidney epithelial cells, allowing them to bind to and internalize apoptotic bodies and necrotic debris following kidney injury (PubMed:17471468, PubMed:18414680). The ectodomain binds to the surface of apoptotic kidney epithelial cells via phosphatidylserine and oxidized phospholipids exposed on the cell membrane of the apoptotic cells (PubMed:18414680). HAVCR1-expressing cells are also capable of phagocytosing Gram-negative and Gram-positive bacteria (PubMed:18414680). As P-selectin/SELPLG ligand, plays a specialized role in activated but not naive T-cell trafficking during inflammatory responses (PubMed:24703780). Controls thereby T-cell accumulation in the inflamed central nervous system (CNS) and the induction of autoimmune disease (PubMed:24703780). Acts as a regulator of T-cell proliferation (By similarity). Also regulates expression of various anti-inflammatory cytokines and co-inhibitory ligands including IL10 (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Polymorphisms in hHAVcr-1 are not associated with atopic asthma in the Japanese population., [RefSeq, PubMed]; Potential Alternative Receptors for SARS-CoV-2-Induced Kidney Damage: TLR-4, KIM-1/TIM-1, and CD147. Review article, [RefSeq, PubMed]; Protective effects of hepatitis A virus on atopic disease depends on a common TIM-1 allele, [RefSeq, PubMed]; Shedding of KIM-1 in the regenerating kidney constitutes an active mechanism allowing dedifferentiated regenerating cells to scatter on basement membrane and reconstitute a continuous epithelial layer, [RefSeq, PubMed]; T-cell immunoglobulin and mucin 1 (TIM-1) mediates infection of Hantaan virus in Jurkat T cells., [RefSeq, PubMed]; The protein encoded by this gene is a membrane receptor for both human hepatitis A virus (HHAV) and TIMD4. The encoded protein may be involved in the moderation of asthma and allergic diseases. The reference genome represents an allele that retains a MTTVP amino acid segment that confers protection against atopy in HHAV seropositive individuals. The protein is a receptor for multiple other viruses, including Ebola virus, Marburg virus, Dengue virus, and Zika virus and is a possible entry factor for SARS-CoV-2 and other coronaviruses. [provided by RefSeq, Sep 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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 9507, "biomarker_type": "", "glycan_count": 5, "disease_count": 19, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "O43656", "ec_number_list": [], "go_molecular_function": "GO:0001618 virus receptor activity;GO:0001786 phosphatidylserine binding", "go_cellular_component": "GO:0001891 phagocytic cup;GO:0009986 cell surface;GO:0031514 motile cilium;GO:0045335 phagocytic vesicle;GO:0005886 plasma membrane", "go_biological_process": "GO:0006911 phagocytosis, engulfment;GO:0043277 apoptotic cell clearance;GO:0033005 positive regulation of mast cell activation", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "Q96D42-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TBF8-1", "uniprot_id": [ { "id": "FA81A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TBF8", "type": "external" } ], "mass": 42392.0, "length": 368, "protein_name": "Protein FAM81A", "gene_name": "FAM81A", "organism": "Human", "refseq_name": "protein FAM81A", "refseq_ac": [ { "id": "NP_689663", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689663", "type": "external" } ], "gene_names_uniprotkb": "FAM81A", "gene_names_refseq": "FAM81A", "protein_names_uniprotkb": "Protein FAM81A", "protein_names_refseq": "protein FAM81A", "tax_id": 9606, "disease": "", "pathway": " (hsa:145773)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;24715725;26154972;28904123;29557506;31429579;31844290;32938616;33592498;35574683", "class_list": "", "function": "FAM81A identified as a stemness-related gene by screening DNA methylation sites based on machine learning-accessed stemness in pancreatic cancer., [RefSeq, PubMed]; Facilitates the interaction and assembly of proteins within the postsynaptic density by promoting the condensation of postsynaptic proteins via liquid-liquid phase separation. Required for neuronal activity. Accumulation at the postsynaptic density results in enlargement of dendritic spines., [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": "", "ec_number_list": [], "go_molecular_function": "GO:0140693 molecular condensate scaffold activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0014069 postsynaptic density;GO:0099092 postsynaptic density, intracellular component", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q8TBF8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6R4-1", "uniprot_id": [ { "id": "M3K4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6R4", "type": "external" } ], "mass": 181685.0, "length": 1608, "protein_name": "Mitogen-activated protein kinase kinase kinase 4", "gene_name": "MAP3K4", "organism": "Human", "refseq_name": "mitogen-activated protein kinase kinase kinase 4 isoform c", "refseq_ac": [ { "id": "NP_001278887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278887", "type": "external" } ], "gene_names_uniprotkb": "MAP3K4; KIAA0213; MAPKKK4; MEKK4; MTK1", "gene_names_refseq": "MAP3K4; MAPKKK4; MEKK 4; MEKK4; MTK1; PRO0412", "protein_names_uniprotkb": "Mitogen-activated protein kinase kinase kinase 4; 2.7.11.25; MAP three kinase 1; MAPK/ERK kinase kinase 4; MEK kinase 4; MEKK 4", "protein_names_refseq": "MAP three kinase 1; MAP/ERK kinase kinase 4; MAPK/ERK kinase kinase 4; MEK kinase 4; SSK2/SSK22 MAP kinase kinase kinase, yeast, homolog of; dJ473J16.1 (mitogen-activated protein kinase kinase kinase 4); mitogen-activated protein kinase kinase kinase 4 isoform c; predicted protein of HQ0412", "tax_id": 9606, "disease": "", "pathway": " (hsa:4216)", "pathway_count": 1, "publication_count": 64, "publication_id_list": "11237011;12052864;15262978;16157600;17242196;17344846;19369195;19413330;19651622;20221403;21406692;23186163;23301498;23481700;24366607;24397554;25576301;25880248;26992070;28218747;28657654;28832583;28834231;28904123;29242379;29351928;29393594;29437277;29632046;29786170;30315122;30410026;30779550;31530632;31844290;31848261;32157095;32350084;32357974;32387766;32938616;32983136;33298915;33592498;33717175;33912179;33936100;33968037;34211107;34357683;34405274;34509645;34561969;35051231;35445959;36010968;36071682;36215666;36241641;36376950;38152055;38253038;40307207;9305639", "class_list": "", "function": "Association between MAP3K4 gene polymorphisms and the risk of schizophrenia susceptibility in a Northeast Chinese Han population., [RefSeq, PubMed]; CircMAP3K4 Suppresses H2O2-Induced Human Lens Epithelial Cell Injury by miR-630/ERCC6 Axis in Age-Related Cataract., [RefSeq, PubMed]; CircMAP3K4 protects human lens epithelial cells from H2O2-induced dysfunction by targeting miR-193a-3p/PLCD3 axis in age-related cataract., [RefSeq, PubMed]; Component of a protein kinase signal transduction cascade. Activates the CSBP2, P38 and JNK MAPK pathways, but not the ERK pathway. Specifically phosphorylates and activates MAP2K4 and MAP2K6., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Identification of MAP3K4 as a novel regulation factor of hepatic lipid metabolism in non-alcoholic fatty liver disease. Publication Status: Online-Only, [RefSeq, PubMed]; The central core of each mitogen-activated protein kinase (MAPK) pathway is a conserved cascade of 3 protein kinases: an activated MAPK kinase kinase (MAPKKK) phosphorylates and activates a specific MAPK kinase (MAPKK), which then activates a specific MAPK. While the ERK MAPKs are activated by mitogenic stimulation, the CSBP2 and JNK MAPKs are activated by environmental stresses such as osmotic shock, UV irradiation, wound stress, and inflammatory factors. This gene encodes a MAPKKK, the MEKK4 protein, also called MTK1. This protein contains a protein kinase catalytic domain at the C terminus. The N-terminal nonkinase domain may contain a regulatory domain. Expression of MEKK4 in mammalian cells activated the CSBP2 and JNK MAPK pathways, but not the ERK pathway. In vitro kinase studies indicated that recombinant MEKK4 can specifically phosphorylate and activate PRKMK6 and SERK1, MAPKKs that activate CSBP2 and JNK, respectively but cannot phosphorylate PRKMK1, an MAPKK that activates ERKs. MEKK4 is a major mediator of environmental stresses that activate the CSBP2 MAPK pathway, and a minor mediator of the JNK pathway. Several alternatively spliced transcripts encoding distinct isoforms have been described. [provided by RefSeq, May 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": 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": 12, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 44, "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": "A6H8W0;B7ZLD3;B9EG75;Q5VTT8;Q5VTT9;Q92612;Q9H408", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO: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:0005737 cytoplasm;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0000165 MAPK cascade;GO:1900745 positive regulation of p38MAPK cascade;GO:0043507 positive regulation of JUN kinase activity;GO:0010225 response to UV-C", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q9Y6R4-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95267-1", "uniprot_id": [ { "id": "GRP1_HUMAN", "url": "https://www.uniprot.org/uniprot/O95267", "type": "external" } ], "mass": 90402.0, "length": 797, "protein_name": "RAS guanyl-releasing protein 1", "gene_name": "RASGRP1", "organism": "Human", "refseq_name": "RAS guanyl-releasing protein 1 isoform b", "refseq_ac": [ { "id": "NP_001122074", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122074", "type": "external" } ], "gene_names_uniprotkb": "RASGRP1; RASGRP", "gene_names_refseq": "CALDAG-GEFII; CALDAG-GEFI; IMD64; RASGRP1; RASGRP", "protein_names_uniprotkb": "RAS guanyl-releasing protein 1; CalDAG-GEFII; Calcium and DAG-regulated guanine nucleotide exchange factor II; Ras guanyl-releasing protein", "protein_names_refseq": "RAS guanyl nucleotide-releasing protein 1; RAS guanyl releasing protein 1 (calcium and DAG-regulated); RAS guanyl-releasing protein 1 isoform b; calcium and DAG-regulated guanine nucleotide exchange factor II; calcium- and diacylglycerol-regulated guanine nucleotide exchange factor II; guanine nucleotide exchange factor, calcium- and DAG-regulated, Rap1A; ras activator RasGRP", "tax_id": 9606, "disease": "immunodeficiency 64 (Disease Ontology:DOID:0111980); systemic lupus erythematosus (Disease Ontology:DOID:9074)", "pathway": " (hsa:10125); (R-HSA-114508); (R-HSA-1169092); (R-HSA-2871837); (R-HSA-354192); (R-HSA-392517); (R-HSA-5673001)", "pathway_count": 7, "publication_count": 199, "publication_id_list": "10087292;10222061;10446041;10508167;10702308;10777492;10807788;10835426;10838074;10869344;10882101;10896934;10934204;10964917;11027663;11080611;11090077;11090634;11136978;11221888;11237011;11257115;11313946;11325957;11413485;11460167;11476890;11546808;11702783;11772397;11805119;11919165;11940607;12032311;12094235;12121613;12473184;12730099;12782630;12839994;12845332;14506247;14514672;14707138;14754902;15060167;15125833;15157149;15184873;15327770;15334074;15356145;1545823;15469846;15546878;15632203;15657177;15899849;16005629;16040750;16076873;16115959;16186825;16252004;16301621;16356853;16356856;16627759;16684964;16757337;16831874;16919435;16978534;17047224;17135271;17158449;1716764;17218263;1722201;17283063;17428801;17496917;17624957;17658605;17878389;17948050;17998941;18039662;18434644;1846040;18772140;18775330;1898771;19033211;19279408;19920141;19933860;20300203;20478380;20685844;21102635;21372320;2175712;21779497;21779505;21966355;21993244;22569528;22589270;22750304;22798961;23103841;23303910;23443682;23481700;23575685;23783831;23908768;24714562;24897931;24937142;25219551;25576301;25781681;26085527;26154972;26375851;26728094;26992070;27776107;27846572;27920218;28228285;28778966;28822832;28832583;28834231;28904123;28952923;29155103;29242379;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;31135801;31154438;31217245;31844290;31848261;31998317;32157095;32502341;32830401;32938616;32983136;33065764;33141586;33691108;33717175;33912179;33936100;34087483;34171305;34211107;34932366;35051231;35204828;35494241;35580925;36284347;36675167;38730425;6148751;7513017;7809086;7935463;7972015;8052307;8253074;8394845;8493579;8631894;8665852;8710374;8755247;8939933;9115221;9346962;9351824;9601053;9604935;9789079;9927426;9930701", "class_list": "", "function": "A Focused Review of Ras Guanine Nucleotide-Releasing Protein 1 in Immune Cells and Cancer. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Abnormal RasGRP1 Expression in the Post-Mortem Brain and Blood Serum of Schizophrenia Patients. Publication Status: Online-Only, [RefSeq, PubMed]; Association of RASGRP1 polymorphism with vascular complications in Chinese diabetic patients with glycemic control and antihypertensive treatment. Publication Status: Online-Only, [RefSeq, PubMed]; Dysregulated RASGRP1 expression through RUNX1 mediated transcription promotes autoimmunity., [RefSeq, PubMed]; Functions as a calcium- and diacylglycerol (DAG)-regulated nucleotide exchange factor specifically activating Ras through the exchange of bound GDP for GTP (PubMed:15899849, PubMed:23908768, PubMed:27776107, PubMed:29155103). Activates the Erk/MAP kinase cascade (PubMed:15899849). Regulates T-cell/B-cell development, homeostasis and differentiation by coupling T-lymphocyte/B-lymphocyte antigen receptors to Ras (PubMed:10807788, PubMed:12839994, PubMed:27776107, PubMed:29155103). Regulates NK cell cytotoxicity and ITAM-dependent cytokine production by activation of Ras-mediated ERK and JNK pathways (PubMed:19933860). Functions in mast cell degranulation and cytokine secretion, regulating FcERI-evoked allergic responses. May also function in differentiation of other cell types (PubMed:12845332)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Novel tumour suppressor roles for GZMA and RASGRP1 in Theileria annulata-transformed macrophages and human B lymphoma cells., [RefSeq, PubMed]; This gene is a member of a family of genes characterized by the presence of a Ras superfamily guanine nucleotide exchange factor (GEF) domain. It functions as a diacylglycerol (DAG)-regulated nucleotide exchange factor specifically activating Ras through the exchange of bound GDP for GTP. It activates the Erk/MAP kinase cascade and regulates T-cells and B-cells development, homeostasis and differentiation. Alternatively spliced transcript variants encoding different isoforms have been identified. Altered expression of the different isoforms of this protein may be a cause of susceptibility to systemic lupus erythematosus (SLE). [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": 6, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q56CZ0;Q58G75;Q59HB1;Q5I3A8;Q6GV31;Q6NX39;Q7LDG6;Q9UI94;Q9UNN9", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0005509 calcium ion binding;GO:0008289 lipid binding;GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0046579 positive regulation of Ras protein signal transduction;GO:0001934 positive regulation of protein phosphorylation;GO:0007165 signal transduction;GO:0030154 cell differentiation;GO:0042110 T cell activation", "synthesized_glycan_count": 0, "hit_score": 20.0, "record_id": "O95267-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96SL8-1", "uniprot_id": [ { "id": "FIZ1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96SL8", "type": "external" } ], "mass": 51996.0, "length": 496, "protein_name": "Flt3-interacting zinc finger protein 1", "gene_name": "FIZ1", "organism": "Human", "refseq_name": "flt3-interacting zinc finger protein 1", "refseq_ac": [ { "id": "NP_116225", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_116225", "type": "external" } ], "gene_names_uniprotkb": "FIZ1; ZNF798", "gene_names_refseq": "FIZ1; ZNF798", "protein_names_uniprotkb": "Flt3-interacting zinc finger protein 1; Zinc finger protein 798", "protein_names_refseq": "flt3-interacting zinc finger protein 1; zinc finger protein 798", "tax_id": 9606, "disease": "", "pathway": " (hsa:84922)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;12566383;17141759;17924679;24956037;28832583;29242379;29493099;29632711;31217245;33968037;34171305", "class_list": "", "function": "Activators of the Rhodopsin gene are present before activation of the gene. FIZ1 expression rises at this time and it can synergize with NRL and CRX at the Rho and PDE6B promoters. FIZ1 may syncronize the onset of maturation related gene expression., [RefSeq, PubMed]; Homologous to mouse and bovine Fiz1 (flt-3 interacting zinc finger). Interacts with NRL (neural retina leucine zipper). Antibody detects protein in human, mouse, bovine retina. Possible role for Fiz1 as a transcriptional repressor., [RefSeq, PubMed]; May be a transcriptional repressor of NRL function in photoreceptors. Does not repress CRX-mediated transactivation (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Signal transducer/transcription factor FIZ1 regulated signaling pathways are implicated in regulation of the balance between proliferation and differentiation in keratinocytes., [RefSeq, PubMed]; This gene encodes zinc finger protein, which interacts with a receptor tyrosine kinase involved in the regulation of hematopoietic and lymphoid cells. This gene product also interacts with a transcription factor that regulates the expression of rod-specific genes in retina. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 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": "A2RU72;Q6ZMJ7", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0008270 zinc ion binding;GO:0030971 receptor tyrosine kinase binding;GO:0061629 RNA polymerase II-specific DNA-binding transcription factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q96SL8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P21757-1", "uniprot_id": [ { "id": "MSRE_HUMAN", "url": "https://www.uniprot.org/uniprot/P21757", "type": "external" } ], "mass": 49762.0, "length": 451, "protein_name": "Macrophage scavenger receptor types I and II", "gene_name": "MSR1", "organism": "Human", "refseq_name": "macrophage scavenger receptor types I and II isoform type 2", "refseq_ac": [ { "id": "NP_002436", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002436", "type": "external" } ], "gene_names_uniprotkb": "MSR1; SCARA1", "gene_names_refseq": "CD204; MSR1; SCARA1; SR-AIII; SR-AII; SR-AI; SR-A; SRA; phSR1; phSR2", "protein_names_uniprotkb": "Macrophage scavenger receptor types I and II; Macrophage acetylated LDL receptor I and II; Scavenger receptor class A member 1", "protein_names_refseq": "macrophage acetylated LDL receptor I and II; macrophage scavenger receptor type III; macrophage scavenger receptor types I and II isoform type 2; macrophage scavenger receptor types I and II; scavenger receptor class A member 1", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); arteriosclerosis (Disease Ontology:DOID:2349); severe acute respiratory syndrome (Disease Ontology:DOID:2945); Barrett's esophagus (Disease Ontology:DOID:9206)", "pathway": " (hsa:4481); (R-HSA-3000480)", "pathway_count": 2, "publication_count": 74, "publication_id_list": "10224290;10651831;10686426;10722588;11237011;11564734;11820786;12244320;12488451;12761161;12763022;12847263;1339697;14609958;14614006;14759258;15565337;16237101;16525990;16882874;16926412;16984918;17179669;17332894;17709607;17768178;1852209;19073604;19159218;19227971;19911804;20360967;20810988;20849212;20888598;20956340;21782039;21791690;2251254;22570530;2318890;23197261;24190977;25965346;26225686;28228285;28904123;29057947;29786170;31154438;31844290;34252459;3467373;35051231;36849072;37074911;37580395;37632192;38884861;40980882;6088540;6255257;7607209;8093617;8127896;8429030;8751442;8784195;8900177;9225214;9465098;9468508;9511720;9548586", "class_list": "", "function": "Detailed role of SR-A1 and SR-E3 in tumor biology, progression, and therapy. Review article, [RefSeq, PubMed]; Does not internalize acetylated LDL., [UniProtKB, PubMed]; Membrane receptor that mediates the binding, endocytosis and phagocytosis of a broad range of ligands. Recognizes and internalizes modified forms of low-density lipoproteins including acetylated LDL (AcLDL) and oxidized LDL (OxLDL), thereby promoting cholesterol uptake and contributing to foam cell formation during atherogenesis (PubMed:2251254, PubMed:34252459). Binds various pathogen-associated and damage-associated molecules, including bacterial cell wall components, apoptotic cell debris and polyanionic ligands, supporting macrophage clearance activity in innate immune defense (PubMed:10722588). Upon stimulation by CpG DNA, mediates activation of LYN, which phosphorylates SYK that is subsequently recruited to endosomal TLR9 to promote downstream TLR9 signaling (PubMed:29057947, PubMed:40980882)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Role of macrophage scavenger receptor 1 in the progression of dyslipidemia in acne vulgaris patients., [RefSeq, PubMed]; Scavenger receptor a mediates glycated LDL transcytosis across endothelial cells to promote atherosclerosis., [RefSeq, PubMed]; This gene encodes the class A macrophage scavenger receptors, which include three different types (1, 2, 3) generated by alternative splicing of this gene. These receptors or isoforms are macrophage-specific trimeric integral membrane glycoproteins and have been implicated in many macrophage-associated physiological and pathological processes including atherosclerosis, Alzheimer's disease, and host defense. The isoforms type 1 and type 2 are functional receptors and are able to mediate the endocytosis of modified low density lipoproteins (LDLs). The isoform type 3 does not internalize modified LDL (acetyl-LDL) despite having the domain shown to mediate this function in the types 1 and 2 isoforms. It has an altered intracellular processing and is trapped within the endoplasmic reticulum, making it unable to perform endocytosis. The isoform type 3 can inhibit the function of isoforms type 1 and type 2 when co-expressed, indicating a dominant negative effect and suggesting a mechanism for regulation of scavenger receptor activity in macrophages. [provided by RefSeq, Jul 2008]., [RefSeq]; Toll-like receptor 4 and macrophage scavenger receptor 1 crosstalk regulates phagocytosis of a fungal pathogen. 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": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 54, "reported_interactions": 0, "missing_score": 9630, "biomarker_type": "", "glycan_count": 10, "disease_count": 4, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "D3DSP3;O60505;P21759;Q45F10", "ec_number_list": [], "go_molecular_function": "GO:0005044 scavenger receptor activity;GO:0001540 amyloid-beta binding;GO:0030169 low-density lipoprotein particle binding;GO:0038024 cargo receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030666 endocytic vesicle membrane;GO:0034362 low-density lipoprotein particle", "go_biological_process": "GO:0006911 phagocytosis, engulfment;GO:0010629 negative regulation of gene expression;GO:0010744 positive regulation of macrophage derived foam cell differentiation;GO:0006898 receptor-mediated endocytosis;GO:0030301 cholesterol transport", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "P21757-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P035-1", "uniprot_id": [ { "id": "HACD3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P035", "type": "external" } ], "mass": 43160.0, "length": 362, "protein_name": "Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 3", "gene_name": "HACD3", "organism": "Human", "refseq_name": "very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 3 isoform 1", "refseq_ac": [ { "id": "NP_057479", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057479", "type": "external" } ], "gene_names_uniprotkb": "HACD3; BIND1; PTPLAD1", "gene_names_refseq": "B-IND1; BIND1; HACD3; HSPC121; PTPLAD1", "protein_names_uniprotkb": "Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 3; 3-hydroxyacyl-CoA dehydratase 3; 4.2.1.134; B-ind1; Butyrate-induced protein 1; HACD3; Protein-tyrosine phosphatase-like A domain-containing protein 1; hB-ind1", "protein_names_refseq": "butyrate-induced protein 1; butyrate-induced transcript 1; protein tyrosine phosphatase-like A domain containing 1; protein tyrosine phosphatase-like protein PTPLAD1; protein-tyrosine phosphatase-like A domain-containing protein 1; very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 3 isoform 1; very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 3; very-long-chain (3R)-3-hydroxyacyl-[acyl-carrier protein] dehydratase 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:51495); (R-HSA-75876)", "pathway_count": 2, "publication_count": 103, "publication_id_list": "10.1101/2023.09.13.557529;10548543;10747961;10954726;11237011;11889465;12371743;12482854;12525535;12975357;15302935;15345747;15469937;16036915;16371355;16516406;16638134;17081983;17379924;17681178;17762044;17924679;18003621;18160438;18220336;18318008;18452278;18554506;18578522;18669648;18691976;18728184;18767875;19369195;19413330;19415658;19505953;19562805;19651622;19664994;19664995;19690332;19691289;19826053;20058876;20068231;20166139;20937905;21406692;21959040;23186163;23481700;24275569;24715725;25576301;25645385;25687571;25880248;25892735;26992070;27600516;28218747;28228285;28514659;28834231;28904123;29242379;29314611;29393594;29437277;29557506;29632046;29769354;30315122;30484775;31844290;32119511;32157095;32161166;32357974;32897882;32938616;33298915;33592498;33691108;33717175;33912179;33968037;34019948;34171305;34357683;34725712;35051231;35083852;36010968;36215666;36241641;36581221;37217939;38617530;38665916;38793585;8075637", "class_list": "", "function": "Catalyzes the third of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme catalyzes the dehydration of the 3-hydroxyacyl-CoA intermediate into trans-2,3-enoyl-CoA, within each cycle of fatty acid elongation. Thereby, it participates to the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; HACD3 Prevents PB1 from Autophagic Degradation to Facilitate the Replication of Influenza A Virus. Publication Status: Online-Only, [RefSeq, PubMed]; PTPLAD1 Regulates PHB-Raf Interaction to Orchestrate Epithelial-Mesenchymal and Mitofusion-Fission Transitions in Colorectal Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Results suggest that hB-ind1 plays a crucial role in HCV RNA replication and the propagation of JFH1 virus through interaction with viral and host proteins, [RefSeq, PubMed]; The structure of the B-IND1 gene promoter region was determined., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0PJA1;B4DRF4;Q280Z3;Q6PD63;Q8IUI5;Q8NC86;Q8NCB1;Q96T12;Q9NQA7", "ec_number_list": [ { "id": "4.2.1.134", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.134", "type": "external" }, { "id": "1.1.1.n12", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.n12", "type": "external" }, { "id": "4.2.1.107", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.107", "type": "external" }, { "id": "4.2.1.119", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.119", "type": "external" } ], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0019899 enzyme binding;GO:0018812 3-hydroxyacyl-CoA dehydratase activity;GO:0102158 very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005925 focal adhesion;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0046726 positive regulation by virus of viral protein levels in host cell;GO:1902532 negative regulation of intracellular signal transduction;GO:0030148 sphingolipid biosynthetic process;GO:0016601 Rac protein signal transduction;GO:0007264 small GTPase-mediated signal transduction", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "Q9P035-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z4V5-1", "uniprot_id": [ { "id": "HDGR2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z4V5", "type": "external" } ], "mass": 74317.0, "length": 671, "protein_name": "Hepatoma-derived growth factor-related protein 2", "gene_name": "HDGFL2", "organism": "Human", "refseq_name": "hepatoma-derived growth factor-related protein 2 isoform 1", "refseq_ac": [ { "id": "NP_001001520", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001520", "type": "external" } ], "gene_names_uniprotkb": "HDGFL2; HDGF2; HDGFRP2; HRP2; PRO1604", "gene_names_refseq": "HDGF-2; HDGF2; HDGFL2; HDGFRP2; HRP-2; HRP2", "protein_names_uniprotkb": "Hepatoma-derived growth factor-related protein 2; HDGF-2; HDGF-related protein 2; HRP-2; Hepatoma-derived growth factor 2", "protein_names_refseq": "HDGF-related protein 2; hepatoma-derived growth factor-related protein 2 isoform 1; hepatoma-derived growth factor-related protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:84717)", "pathway_count": 1, "publication_count": 71, "publication_id_list": "11237011;12975309;16337983;16964243;17081983;17287340;17525332;18212344;18452278;18669648;18707149;18767875;19651622;19664994;20068231;20166139;21406692;21720545;21872626;23046603;23186163;23301498;23481700;24275569;24715725;25576301;25645385;25689719;25802875;26154972;26721387;26992070;27846572;28904123;29351928;29557506;29786170;30379171;31616795;31844290;32157095;32357974;32387766;32459350;32488085;32502341;32938616;32983136;33298915;33477970;33592498;33691108;33912179;33968037;33981976;34019948;34087483;34171305;34415726;34509645;35051231;35166240;35561310;35580925;36010968;36284347;37217939;37938771;38665916;40596516;40914422", "class_list": "", "function": "Acts as an epigenetic regulator of myogenesis in cooperation with DPF3a (isoform 2 of DPF3/BAF45C) (PubMed:32459350). Associates with the BAF complex via its interaction with DPF3a and HDGFL2-DPF3a activate myogenic genes by increasing chromatin accessibility through recruitment of SMARCA4/BRG1/BAF190A (ATPase subunit of the BAF complex) to myogenic gene promoters (PubMed:32459350). Promotes the repair of DNA double-strand breaks (DSBs) through the homologous recombination pathway by facilitating the recruitment of the DNA endonuclease RBBP8 to the DSBs (PubMed:26721387). Preferentially binds to chromatin regions marked by H3K9me3, H3K27me3 and H3K36me2 (PubMed:26721387, PubMed:32459350). Involved in cellular growth control, through the regulation of cyclin D1 expression (PubMed:25689719)., [UniProtKB, PubMed, PubMed, PubMed]; Authors show that HRP-2 functions as a co-factor of HIV-1 IN in LEDGF/p75-depleted cells. Publication Status: Online-Only, [RefSeq, PubMed]; Epigenomic reprogramming via HRP2-MINA dictates response to proteasome inhibitors in multiple myeloma with t(4;14) translocation., [RefSeq, PubMed]; Here, we show that recombinant HDGF2 host cell factor efficiently reconstitutes the in vitro activity of HIV-1 preintegration complexes., [RefSeq, PubMed]; LEDGF and HDGF2 colocalize with Histone H3 lysine 36 methylation 2/3 at genomic regions containing active genes. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the hepatoma-derived growth factor (HDGF) family. The protein includes an N-terminal PWWP domain that binds to methyl-lysine-containing histones, with specific binding of this protein to tri-methylated lysines 36 and 79 of histone H3, and di- and tri-methylated lysine 20 of histone H4. The protein functions in LEDGF/p75-independent HIV-1 replication by determining HIV-1 integration site selection. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]., [RefSeq]; Unlike Its Paralog LEDGF/p75, HRP-2 Is Dispensable for MLL-R Leukemogenesis but Important for Leukemic Cell Survival. 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": 35, "reported_mutagensis": 3, "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": "I3L080;K7EQZ6;Q96GI5;Q9BW08", "ec_number_list": [], "go_molecular_function": "GO:0061628 histone H3K27me3 reader activity;GO:0062072 histone H3K9me2/3 reader activity;GO:0140566 histone reader activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0043403 skeletal muscle tissue regeneration;GO:0006281 DNA repair;GO:0006310 DNA recombination;GO:0006338 chromatin remodeling;GO:0030307 positive regulation of cell growth", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q7Z4V5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P04035-1", "uniprot_id": [ { "id": "HMDH_HUMAN", "url": "https://www.uniprot.org/uniprot/P04035", "type": "external" } ], "mass": 97476.0, "length": 888, "protein_name": "3-hydroxy-3-methylglutaryl-coenzyme A reductase", "gene_name": "HMGCR", "organism": "Human", "refseq_name": "3-hydroxy-3-methylglutaryl-Coenzyme A reductase isoform 1", "refseq_ac": [ { "id": "NP_000850", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000850", "type": "external" } ], "gene_names_uniprotkb": "HMGCR", "gene_names_refseq": "HMGCR; LDLCQ3; LGMDR28; MYPLG", "protein_names_uniprotkb": "3-hydroxy-3-methylglutaryl-coenzyme A reductase; 1.1.1.34; HMG-CoA reductase", "protein_names_refseq": "3-hydroxy-3-methylglutaryl CoA reductase (NADPH); 3-hydroxy-3-methylglutaryl-Coenzyme A reductase isoform 1; 3-hydroxy-3-methylglutaryl-Coenzyme A reductase; HMG-CoA reductase; hydroxymethylglutaryl-CoA reductase", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); autosomal recessive limb-girdle muscular dystrophy type 28 (Disease Ontology:DOID:0061130); metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); muscular disease (Disease Ontology:DOID:0080000); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); Alzheimer's disease (Disease Ontology:DOID:10652); premature menopause (Disease Ontology:DOID:10787); attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); morbid obesity (Disease Ontology:DOID:11981); dementia (Disease Ontology:DOID:1307); Parkinson's disease (Disease Ontology:DOID:14330); drug-induced hepatitis (Disease Ontology:DOID:2044); asthma (Disease Ontology:DOID:2841); coronary artery disease (Disease Ontology:DOID:3393); myopathy (Disease Ontology:DOID:423); pulmonary hypertension (Disease Ontology:DOID:6432); end stage renal disease (Disease Ontology:DOID:783); chronic kidney disease (Disease Ontology:DOID:784); intermediate coronary syndrome (Disease Ontology:DOID:8805); Wilson disease (Disease Ontology:DOID:893); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:3156); (R-HSA-9619665)", "pathway_count": 2, "publication_count": 227, "publication_id_list": "10.1101/2023.09.13.557529;10203854;10220111;10391209;10400691;10698924;10727776;10757804;10856243;11115854;11133365;11157804;11237011;11349148;11356866;11394999;11430795;11430802;11734543;11782409;12056842;12145339;12198163;12535518;12782656;12799134;14512514;14522948;14664827;15150276;15189448;15356632;15610069;15695336;15836632;15907797;16136673;16311519;16319321;16373334;16923174;1704008;17180682;17325040;17699610;17959798;18193044;18354102;18540668;18634568;18803322;19143832;19156870;19321787;19458199;19745155;1975954;19922439;20149798;20213556;20625412;20686565;20832498;21044070;21209280;21326363;21357570;21411665;21423190;21423191;21613327;21653862;21778231;22053691;22143767;22180461;22333914;22492709;22764250;22814607;22898188;22984286;22989091;23169578;23186163;23481700;23695165;2369897;23747866;23874858;24190977;24191038;24227709;24275569;24366607;24646194;24675079;24714562;24715725;25418920;25469497;25576301;25645385;25802875;25880248;25974668;26154972;26423937;26441514;26728094;26811146;26929215;26992070;27220739;27288457;27600516;27846572;27859941;27862975;27920218;28063628;28218747;28228285;28446606;28489076;28514659;28649982;28832583;28834231;28852375;28855257;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29741879;29748249;29789417;2991281;30192525;30315122;30410026;30429286;30484775;30524438;30779550;30833945;31092671;31154438;31217245;31222486;31373491;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32526887;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34405274;34509645;34561969;34932366;35051231;35318648;35494241;35561310;35580925;36010968;36215666;36241641;36284347;36745799;37074911;37167966;37355634;37833739;37938771;38233830;38253038;38397481;39201649;6995544;7925941;7935840;8138712;8349731;8619637;8627307;8647822;8662541;8842374;9418958;9482253;9705348;9748295;9858769", "class_list": "", "function": "Association between HMGCR, CRP, and CETP gene polymorphisms and metabolic/inflammatory serum profile in healthy adolescents. Publication Status: Online-Only, [RefSeq, PubMed]; Association of NPC1L1 and HMGCR gene polymorphisms with coronary artery calcification in patients with premature triple-vessel coronary disease. Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the conversion of (3S)-hydroxy-3-methylglutaryl-CoA (HMG-CoA) to mevalonic acid, the rate-limiting step in the synthesis of cholesterol and other isoprenoids, thus plays a critical role in cellular cholesterol homeostasis (PubMed:21357570, PubMed:2991281, PubMed:36745799, PubMed:6995544). HMGCR is the main target of statins, a class of cholesterol-lowering drugs (PubMed:11349148, PubMed:18540668, PubMed:36745799)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Genetic Polymorphisms in the HMGCR Gene and Associations with Cognitive Decline in Parkinson's Disease Patients. Publication Status: Online-Only, [RefSeq, PubMed]; HMG-CoA reductase is the rate-limiting enzyme for cholesterol synthesis and is regulated via a negative feedback mechanism mediated by sterols and non-sterol metabolites derived from mevalonate, the product of the reaction catalyzed by reductase. Normally in mammalian cells this enzyme is suppressed by cholesterol derived from the internalization and degradation of low density lipoprotein (LDL) via the LDL receptor. Competitive inhibitors of the reductase induce the expression of LDL receptors in the liver, which in turn increases the catabolism of plasma LDL and lowers the plasma concentration of cholesterol, an important determinant of atherosclerosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]., [RefSeq]; HMGCR gene polymorphism is associated with residual cholesterol risk in premature triple-vessel disease patients treated with moderate-intensity statins. Publication Status: Online-Only, [RefSeq, PubMed]; Peroxisomal Localization of a Truncated HMG-CoA Reductase under Low Cholesterol Conditions. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 22, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B7Z3Y9;Q8N190", "ec_number_list": [ { "id": "1.1.1.34", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.34", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" } ], "go_molecular_function": "GO:0120225 coenzyme A binding;GO:0030695 GTPase regulator activity;GO:0070402 NADPH binding;GO:0004420 hydroxymethylglutaryl-CoA reductase (NADPH) activity;GO:0050661 NADP binding", "go_cellular_component": "GO:0098554 cytoplasmic side of endoplasmic reticulum membrane;GO:0005778 peroxisomal membrane;GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0050709 negative regulation of protein secretion;GO:0016126 sterol biosynthetic process;GO:0006695 cholesterol biosynthetic process;GO:0015936 coenzyme A metabolic process;GO:0042177 negative regulation of protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 23.9, "record_id": "P04035-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q53T59-1", "uniprot_id": [ { "id": "H1BP3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q53T59", "type": "external" } ], "mass": 42780.0, "length": 392, "protein_name": "HCLS1-binding protein 3", "gene_name": "HS1BP3", "organism": "Human", "refseq_name": "HCLS1-binding protein 3", "refseq_ac": [ { "id": "NP_071905", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071905", "type": "external" } ], "gene_names_uniprotkb": "HS1BP3", "gene_names_refseq": "ETM2; HS1-BP3; HS1BP3", "protein_names_uniprotkb": "HCLS1-binding protein 3; HS1-binding protein 3; HSP1BP-3", "protein_names_refseq": "HCLS1-binding protein 3; HS1-binding protein 3; HSP1BP-3", "tax_id": 9606, "disease": "", "pathway": " (hsa:64342)", "pathway_count": 1, "publication_count": 43, "publication_id_list": "11237011;15699368;16116142;16964243;18452278;18669648;18707149;19524641;19608861;20068231;20166139;21406692;21699750;23186163;23301498;23481700;24275569;25576301;25645385;26154972;27600516;27846572;27920218;28004827;28228285;28832583;29557506;30429286;31217245;31844290;32157095;32265295;32488085;32502341;32938616;32983136;33717175;34357683;34561969;35051231;35580925;36284347;37938771", "class_list": "", "function": "HS1BP3 is localized to ATG16L1- and ATG9-positive autophagosome precursors and we show that HS1BP3 binds phosphatidic acid (PA) through its PX domain. Furthermore, we find the total PA content of cells to be significantly upregulated in the absence of HS1BP3. Publication Status: Online-Only, [RefSeq, PubMed]; HS1PB3 protein is mutated in essential tremor combined with Parkinson disease., [RefSeq, PubMed]; May be a modulator of IL-2 signaling., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Results do not support a role for these DRD3 and HS1BP3 variants in PD. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Results suggest that HS1BP3 regulates apoptosis via HS1 and stimulates AP-1-mediated transcription., [RefSeq, PubMed]; The 828C-->G mutation causes a substitution of a glycine for an alanine residue in the HS1-BP3 protein. It was found in 2 unrelated patients with familial essential tremor., [RefSeq, PubMed]; The protein encoded by this gene shares similarity with mouse Hs1bp3, an Hcls1/Hs1-interacting protein that may be involved in lymphocyte activation. [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": 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": "B2RAW2;D6W529;Q86VC2;Q8N367", "ec_number_list": [], "go_molecular_function": "GO:0035091 phosphatidylinositol binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0042981 regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q53T59-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3SXM5-1", "uniprot_id": [ { "id": "HSDL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3SXM5", "type": "external" } ], "mass": 37002.0, "length": 330, "protein_name": "Inactive hydroxysteroid dehydrogenase-like protein 1", "gene_name": "HSDL1", "organism": "Human", "refseq_name": "inactive hydroxysteroid dehydrogenase-like protein 1 isoform b", "refseq_ac": [ { "id": "NP_001139523", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139523", "type": "external" } ], "gene_names_uniprotkb": "HSDL1; SDR12C3", "gene_names_refseq": "HSDL1; SDR12C3", "protein_names_uniprotkb": "Inactive hydroxysteroid dehydrogenase-like protein 1; Short chain dehydrogenase/reductase family 12C member 3", "protein_names_refseq": "inactive hydroxysteroid dehydrogenase-like protein 1 isoform b; inactive hydroxysteroid dehydrogenase-like protein 1; short chain dehydrogenase/reductase family 12C member 3; steroid dehydrogenase-like protein", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:83693)", "pathway_count": 1, "publication_count": 76, "publication_id_list": "11237011;12153137;19026618;20112406;20877624;22424782;23481700;24323902;24715725;25418920;25576301;25645385;25880248;25892735;26154972;26811146;26992070;27600516;27862975;27920218;28063628;28228285;28514659;28832583;28834231;28855257;28904123;29242379;29296522;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29769354;30315122;30410026;30429286;30524438;30779550;30833945;31154438;31217245;31222486;31844290;32157095;32265295;32357974;32387766;32502341;32938616;32983136;33123756;33141586;33298915;33392160;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34171305;34185709;34211107;34509645;34932366;35051231;35318648;35580925;36010968;36241641;36284347", "class_list": "", "function": "Characterized the subcellular localization as well as the tissue distribution and performed a screen for putative substrates of HSDL1 enzymes, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DSL2;D3DUL4;Q3SXM4;Q8NC98;Q9BY22", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q3SXM5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5GLZ8-1", "uniprot_id": [ { "id": "HERC4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5GLZ8", "type": "external" } ], "mass": 118563.0, "length": 1057, "protein_name": "Probable E3 ubiquitin-protein ligase HERC4", "gene_name": "HERC4", "organism": "Human", "refseq_name": "probable E3 ubiquitin-protein ligase HERC4 isoform c", "refseq_ac": [ { "id": "NP_001265114", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265114", "type": "external" } ], "gene_names_uniprotkb": "HERC4; KIAA1593", "gene_names_refseq": "HERC4", "protein_names_uniprotkb": "Probable E3 ubiquitin-protein ligase HERC4; 2.3.2.26; HECT domain and RCC1-like domain-containing protein 4; HECT-type E3 ubiquitin transferase HERC4", "protein_names_refseq": "HECT domain and RCC1-like domain-containing protein 4; HECT-type E3 ubiquitin transferase HERC4; hect domain and RLD 4; probable E3 ubiquitin-protein ligase HERC4 isoform c; probable E3 ubiquitin-protein ligase HERC4", "tax_id": 9606, "disease": "", "pathway": " (hsa:26091); (R-HSA-983168)", "pathway_count": 2, "publication_count": 120, "publication_id_list": "11062501;11237011;11350924;12646216;14734113;15224091;15224092;15571818;15676274;16385451;16595681;16849449;16954532;17287340;18662542;19028597;19352404;19452197;19489725;19851334;19874575;19940261;20112406;22424782;22544926;2261476;23481700;24715725;25418920;25576301;25645385;25684480;25880248;26154972;26811146;26992070;27397612;27543614;27600516;27846572;27920218;28063628;28218747;28228285;28510447;28514659;28832583;28834231;28855257;28856724;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30410026;30429286;30484775;30524438;30710319;30779550;30833945;31010679;31092671;31154438;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34357683;34405274;34509645;34725712;34932366;35051231;35154160;35251023;35580925;36010968;36215666;36241641;36284347;37028761;37938771;38181892;38665916;39894887;9380723;9668046", "class_list": "", "function": "HERC4 ancestor emerged in nematodes and that the family expanded throughout evolution. The mRNA expression pattern of the HERC4 was found to be diverse in selected tissues and cells, [RefSeq, PubMed]; HERC4 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM, Mar 2008]., [RefSeq]; HERC4 is downregulated in NSCLC samples; HERC4 interacts with Smo reciprocally in NSCLC cells; knockdown of herc4 activates Hh pathway and promotes NSCLC cell proliferation. Taken together, our studies have demonstrated that HERC4 acts as a tumor suppressor via destabilizing the oncoprotein Smo, [RefSeq, PubMed]; HERC4 modulates ovarian cancer cell proliferation by regulating SMO-elicited hedgehog signaling., [RefSeq, PubMed]; High HERC4 expression is associated with lung cancer., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Probable E3 ubiquitin-protein ligase involved in either protein trafficking or in the distribution of cellular structures. Required for spermatozoon maturation and fertility, and for the removal of the cytoplasmic droplet of the spermatozoon. E3 ubiquitin-protein ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer it to targeted substrates., [UniProtKB, UniProtKB]; The SIRT1/HERC4 locus on chromosome 10 was identified to be associated with intravenous (iv) bisphosphonates induced Osteonecrosis of the Jaw., [RefSeq, PubMed]; The authors findings demonstrate that HERC4 is important for promoting tumorigenesis., [RefSeq, PubMed]; The ubiquitin ligase HERC4 suppresses MafA transcriptional activity triggered by GSK3beta in myeloma by atypical K63-linked polyubiquitination., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5GC98;Q5GC99;Q5GCA0;Q8IXP9;Q9HCH9", "ec_number_list": [ { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "2.3.2.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.34", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;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": 12.3, "record_id": "Q5GLZ8-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96IZ0-1", "uniprot_id": [ { "id": "PAWR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96IZ0", "type": "external" } ], "mass": 36568.0, "length": 340, "protein_name": "PRKC apoptosis WT1 regulator protein", "gene_name": "PAWR", "organism": "Human", "refseq_name": "PRKC apoptosis WT1 regulator protein isoform 1", "refseq_ac": [ { "id": "NP_002574", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002574", "type": "external" } ], "gene_names_uniprotkb": "PAWR; PAR4", "gene_names_refseq": "PAR4; PAWR; Par-4", "protein_names_uniprotkb": "PRKC apoptosis WT1 regulator protein; Par-4; Prostate apoptosis response 4 protein", "protein_names_refseq": "PRKC apoptosis WT1 regulator protein isoform 1; PRKC, apoptosis, WT1, regulator; WT1-interacting protein; prostate apoptosis response protein 4; prostate apoptosis response protein PAR-4; prostate apoptosis response-4; transcriptional repressor PAR4", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); major depressive disorder (Disease Ontology:DOID:1470); depressive disorder (Disease Ontology:DOID:1596); epilepsy (Disease Ontology:DOID:1826); transient cerebral ischemia (Disease Ontology:DOID:224); middle cerebral artery infarction (Disease Ontology:DOID:3525); cholangiocarcinoma (Disease Ontology:DOID:4947)", "pathway": " (hsa:5074)", "pathway_count": 1, "publication_count": 97, "publication_id_list": "11237011;11585763;11755531;12242017;12565819;12717420;14627703;14755681;15671026;17189197;17287340;17697703;18212344;18669648;19413330;19651622;19664994;19664995;20068231;20561531;22424782;22544926;23186163;23301498;23481700;24275569;24457960;24715725;25001535;25418920;25576301;25880248;26154972;27600516;27846572;28063628;28218747;28228285;28411811;28446606;28832583;28860189;29242379;29331515;29393594;29508533;29557506;29632046;29632711;29789417;30315122;30429286;30524438;30779550;31092671;31373491;31492838;31834925;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32357974;32502341;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33691108;33912179;33968037;33981976;34019948;34087483;34171305;34211107;34405274;34932366;35051231;35054966;35251305;35561310;35580925;36010968;36215666;37217939;37938771;38761538;40596516;8943350;9701251", "class_list": "", "function": "CircTRRAP Knockdown Has Cardioprotective Function in Cardiomyocytes via the Signal Regulation of miR-370-3p/PAWR Axis. Publication Status: Online-Only, [RefSeq, PubMed]; Elevated protease-activated receptor 4 (PAR4) gene expression in Alzheimer's disease predicts cognitive decline., [RefSeq, PubMed]; PAR4-Mediated PI3K/Akt and RhoA/ROCK Signaling Pathways Are Essential for Thrombin-Induced Morphological Changes in MEG-01 Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Par-4 expression is increased in vulnerable neurons in Alzheimer's disease, and contributes to apoptotic neuronal cell death in the disease., [RefSeq, PubMed]; Pro-apoptotic protein capable of selectively inducing apoptosis in cancer cells, sensitizing the cells to diverse apoptotic stimuli and causing regression of tumors in animal models. Induces apoptosis in certain cancer cells by activation of the Fas prodeath pathway and coparallel inhibition of NF-kappa-B transcriptional activity. Inhibits the transcriptional activation and augments the transcriptional repression mediated by WT1. Down-regulates the anti-apoptotic protein BCL2 via its interaction with WT1. Also seems to be a transcriptional repressor by itself. May be directly involved in regulating the amyloid precursor protein (APP) cleavage activity of BACE1., [UniProtKB, PubMed]; The cancer cell specific activity of Par-4 is elicited through intracellular as well as extracellular mechanisms. Review article, [RefSeq, PubMed]; This gene encodes a tumor suppressor protein that selectively induces apoptosis in cancer cells through intracellular and extracellular mechanisms. The intracellular mechanism involves the inhibition of pro-survival pathways and the activation of Fas-mediated apoptosis, while the extracellular mechanism involves the binding of a secreted form of this protein to glucose regulated protein 78 (GRP78) on the cell surface, which leads to activation of the extrinsic apoptotic pathway. This gene is located on the unstable human chromosomal 12q21 region and is often deleted or mutated different tumors. The encoded protein also plays an important role in the progression of age-related diseases. [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": 12, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 12, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 12, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "O75796;Q6FHY9;Q8N700", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0019899 enzyme binding;GO:0003714 transcription corepressor activity;GO:0043522 leucine zipper domain binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000785 chromatin", "go_biological_process": "GO:1901300 positive regulation of hydrogen peroxide-mediated programmed cell death;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0010628 positive regulation of gene expression;GO:0010629 negative regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "Q96IZ0-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62913-1", "uniprot_id": [ { "id": "RL11_HUMAN", "url": "https://www.uniprot.org/uniprot/P62913", "type": "external" } ], "mass": 20252.0, "length": 178, "protein_name": "Large ribosomal subunit protein uL5", "gene_name": "RPL11", "organism": "Human", "refseq_name": "large ribosomal subunit protein uL5 isoform 1", "refseq_ac": [ { "id": "NP_000966", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000966", "type": "external" } ], "gene_names_uniprotkb": "RPL11", "gene_names_refseq": "DBA7; GIG34; L11; RPL11; uL5", "protein_names_uniprotkb": "Large ribosomal subunit protein uL5; 60S ribosomal protein L11; CLL-associated antigen KW-12", "protein_names_refseq": "60S ribosomal protein L11; CLL-associated antigen KW-12; cell growth-inhibiting protein 34; large ribosomal subunit protein uL5 isoform 1; large ribosomal subunit protein uL5", "tax_id": 9606, "disease": "Diamond-Blackfan anemia 7 (Disease Ontology:DOID:0111878); Diamond-Blackfan anemia (Disease Ontology:DOID:1339); T-cell acute lymphoblastic leukemia (Disease Ontology:DOID:5603)", "pathway": " (hsa:6135); (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": 289, "publication_id_list": "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;12815950;12832468;12853463;12962325;1400365;14527413;14567916;14630918;14636577;14654843;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;17697703;17726049;17803942;17893241;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18455985;18524595;18539146;1856230;1861871;18657639;18691976;18974281;19060897;19061985;19106111;19150429;19191325;19332556;19359157;19413330;19417104;19478851;19503078;19556969;19564402;19608861;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;21740066;22072790;22121020;22190735;22195017;22223895;22645359;22916032;23085078;23186163;23217742;23234702;23269699;23439679;23482395;23636399;23685075;23746841;2388630;24120868;24424021;24524803;24550520;24556985;24714562;24715725;25132172;25242263;25418920;25469497;25525153;25578875;25645385;25880248;25892735;25969445;26024233;26237581;26375851;26728094;26758079;26992070;27452731;27526673;27543614;27600516;27829214;27846572;27862975;27920218;28063628;28065601;28132843;28218747;28228285;28514659;28685749;28832583;28904123;29242379;29331515;29393594;29413899;29437277;29493099;29508533;29557506;29632046;29632312;29632711;29786170;30192525;30244831;30293783;30315122;30410026;30484775;30779550;30804176;30833945;31011209;31154438;31217245;31222486;31844290;31848261;32099016;32119511;32157095;32161166;32350084;32357974;32387766;32502341;32579943;32669547;32897882;32938616;32983136;33091337;33141586;33214551;33298915;33392160;33406423;33537174;33592498;33633747;33691108;33717175;33909987;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34509645;34561969;34725712;34932366;34948282;35051231;35083852;35138101;35154160;35318648;35561310;35580925;36010968;36215666;36241641;36302773;36869281;37217939;37291423;37676773;37938771;38665916;429297;592398;592399;641056;6568109;6901506;7748210;7990965;8336711;8407925;8890909;9211906;9431993;9482744;9582194;9631292;9637248;9712840", "class_list": "", "function": "Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:19191325, PubMed:32669547). The small ribosomal subunit (SSU) binds messenger RNAs (mRNAs) and translates the encoded message by selecting cognate aminoacyl-transfer RNA (tRNA) molecules (PubMed:19191325, PubMed:32669547). The large subunit (LSU) contains the ribosomal catalytic site termed the peptidyl transferase center (PTC), which catalyzes the formation of peptide bonds, thereby polymerizing the amino acids delivered by tRNAs into a polypeptide chain (PubMed:19191325, PubMed:32669547). The nascent polypeptides leave the ribosome through a tunnel in the LSU and interact with protein factors that function in enzymatic processing, targeting, and the membrane insertion of nascent chains at the exit of the ribosomal tunnel (PubMed:19191325, PubMed:32669547). As part of the 5S RNP/5S ribonucleoprotein particle it is an essential component of the LSU, required for its formation and the maturation of rRNAs (PubMed:12962325, PubMed:19061985, PubMed:24120868). It also couples ribosome biogenesis to p53/TP53 activation. As part of the 5S RNP it accumulates in the nucleoplasm and inhibits MDM2, when ribosome biogenesis is perturbed, mediating the stabilization and the activation of TP53 (PubMed:24120868). Promotes nucleolar location of PML (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Deficiency of the Ribosomal Protein uL5 Leads to Significant Rearrangements of the Transcriptional and Translational Landscapes in Mammalian Cells. Publication Status: Online-Only, [RefSeq, PubMed]; RPL11 promotes non-small cell lung cancer cell proliferation by regulating endoplasmic reticulum stress and cell autophagy. Publication Status: Online-Only, [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 60S subunit. The protein belongs to the L5P family of ribosomal proteins. It is located in the cytoplasm. The protein probably associates with the 5S rRNA. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "P25121;P39026;Q8TDH2;Q9Y674", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0031625 ubiquitin protein ligase binding;GO:1990948 ubiquitin ligase inhibitor activity;GO:0008097 5S rRNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:1901740 negative regulation of myoblast fusion;GO:0007283 spermatogenesis;GO:0006605 protein targeting;GO:0042273 ribosomal large subunit biogenesis;GO:1901796 regulation of signal transduction by p53 class mediator", "synthesized_glycan_count": 0, "hit_score": 29.2, "record_id": "P62913-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NPD8-1", "uniprot_id": [ { "id": "UBE2T_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NPD8", "type": "external" } ], "mass": 22521.0, "length": 197, "protein_name": "Ubiquitin-conjugating enzyme E2 T", "gene_name": "UBE2T", "organism": "Human", "refseq_name": "ubiquitin-conjugating enzyme E2 T isoform 2", "refseq_ac": [ { "id": "NP_001297255", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001297255", "type": "external" } ], "gene_names_uniprotkb": "UBE2T; HSPC150; PIG50", "gene_names_refseq": "FANCT; HSPC150; PIG50; UBE2T", "protein_names_uniprotkb": "Ubiquitin-conjugating enzyme E2 T; 2.3.2.23; Cell proliferation-inducing gene 50 protein; E2 ubiquitin-conjugating enzyme T; Ubiquitin carrier protein T; Ubiquitin-protein ligase T", "protein_names_refseq": "E2 ubiquitin-conjugating enzyme T; HSPC150 protein similar to ubiquitin-conjugating enzyme; cell proliferation-inducing gene 50 protein; ubiquitin carrier protein T; ubiquitin conjugating enzyme E2T; ubiquitin-conjugating enzyme E2 T isoform 2; ubiquitin-conjugating enzyme E2T (putative); ubiquitin-protein ligase T", "tax_id": 9606, "disease": "Fanconi anemia complementation group T (Disease Ontology:DOID:0111081)", "pathway": " (hsa:29089); (R-HSA-6783310); (R-HSA-8866652)", "pathway_count": 3, "publication_count": 140, "publication_id_list": "10931946;11237011;11239454;15572677;16142244;16916645;16943440;17287340;17289582;17412408;17460694;17580310;17597759;17938197;18082604;18174376;18212344;18353650;18667844;18669648;18931676;19111657;19561358;19589784;19596236;19887602;19995904;20061386;20068231;20102227;20112406;20347428;20347429;20385554;20603015;20603016;20603073;20670894;20671156;21464321;21701511;21722982;21764741;21775430;22258451;22287633;22396592;22496338;22510687;22692201;23186163;23325218;23698467;23723247;24076221;24366607;24389026;24397554;24623813;24714562;24715725;24726325;24905007;25430771;25500724;25576301;25892735;26046368;26154972;26235645;26811146;26992070;27600516;27846572;27920218;28228285;28437106;28510447;28649982;28832583;28834231;28855257;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29786170;30315122;30429286;30524438;30779550;30833945;31092671;31154438;31530632;31844290;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34932366;35051231;35561310;35580925;36010968;36241641;36825587;37181827;37373211;38682180;38816989;39531497;39894887;6277905;6305978;7851534;8010951;9521656", "class_list": "", "function": "Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. Catalyzes monoubiquitination. Involved in mitomycin-C (MMC)-induced DNA repair. Acts as a specific E2 ubiquitin-conjugating enzyme for the Fanconi anemia complex by associating with E3 ubiquitin-protein ligase FANCL and catalyzing monoubiquitination of FANCD2, a key step in the DNA damage pathway (PubMed:16916645, PubMed:17938197, PubMed:19111657, PubMed:19589784, PubMed:28437106). Also mediates monoubiquitination of FANCL and FANCI (PubMed:16916645, PubMed:17938197, PubMed:19111657, PubMed:19589784). May contribute to ubiquitination and degradation of BRCA1 (PubMed:19887602). In vitro able to promote polyubiquitination using all 7 ubiquitin Lys residues, but may prefer 'Lys-11'-, 'Lys-27'-, 'Lys-48'- and 'Lys-63'-linked polyubiquitination (PubMed:20061386)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Diverse roles of UBE2T in cancer (Review)., [RefSeq, PubMed]; FOXA1/UBE2T Inhibits CD8[+]T Cell Activity by Inducing Mediates Glycolysis in Lung Adenocarcinoma., [RefSeq, PubMed]; The protein encoded by this gene catalyzes the covalent attachment of ubiquitin to protein substrates. Defects in this gene have been associated with Fanconi anemia of complementation group T. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]., [RefSeq]; UBE2T Promotes Temozolomide Resistance of Glioblastoma Through Regulating the Wnt/beta-Catenin Signaling Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; UBE2T is the ubiquitin-conjugating enzyme (E2) in the Fanconi anemia pathway and has a self-inactivation mechanism that could be important for negative regulation of the Fanconi anemia pathway., [RefSeq, PubMed]; UBE2T mediates SORBS3 ubiquitination to enhance IL-6/STAT3 signaling and promote lung adenocarcinoma progression., [RefSeq, PubMed]; UBE2T was significantly upregulated in lung cancer tissue and cell lines, suggesting involvement of UBE2T in the malignant cell phenotype., [RefSeq, PubMed]; USP15-USP7 Axis and UBE2T Differential Expression May Predict Pathogenesis and Poor Prognosis in De Novo Myelodysplastic Neoplasm. 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": 8, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q2TU36", "ec_number_list": [ { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "6.2.1.45", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.45", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" } ], "go_molecular_function": "GO:0003682 chromatin binding;GO:0005524 ATP binding;GO:0031625 ubiquitin protein ligase binding;GO:0004842 ubiquitin-protein transferase activity;GO:0061631 ubiquitin conjugating enzyme activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0006281 DNA repair;GO:0006974 DNA damage response;GO:0070979 protein K11-linked ubiquitination;GO:0000209 protein polyubiquitination;GO:0051865 protein autoubiquitination", "synthesized_glycan_count": 0, "hit_score": 14.3, "record_id": "Q9NPD8-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IVU3-1", "uniprot_id": [ { "id": "HERC6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IVU3", "type": "external" } ], "mass": 115126.0, "length": 1022, "protein_name": "Probable E3 ubiquitin-protein ligase HERC6", "gene_name": "HERC6", "organism": "Human", "refseq_name": "probable E3 ubiquitin-protein ligase HERC6 isoform 2", "refseq_ac": [ { "id": "NP_001158608", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158608", "type": "external" } ], "gene_names_uniprotkb": "HERC6", "gene_names_refseq": "HERC6", "protein_names_uniprotkb": "Probable E3 ubiquitin-protein ligase HERC6; 2.3.2.26; HECT domain and RCC1-like domain-containing protein 6; HECT-type E3 ubiquitin transferase HERC6", "protein_names_refseq": "HECT domain and RCC1-like domain-containing protein 6; HECT-type E3 ubiquitin transferase HERC6; hect domain and RLD 6; potential ubiquitin ligase; probable E3 ubiquitin-protein ligase HERC6 isoform 2; probable E3 ubiquitin-protein ligase HERC6", "tax_id": 9606, "disease": "", "pathway": " (hsa:55008); (R-HSA-983168)", "pathway_count": 2, "publication_count": 69, "publication_id_list": "10.1101/2023.09.13.557529;11062501;11237011;11350924;12646216;14734113;15224091;15224092;15571818;15676274;16595681;16849449;16954532;18452278;18662542;19028597;19352404;19452197;19489725;19851334;19874575;19940261;22424782;2261476;25576301;25645385;27600516;27846572;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29331515;29437277;29493099;29557506;29786170;30315122;30379171;30410026;30429286;30524438;31154438;31844290;32157095;32357974;32387766;32938616;32983136;33298915;33537174;33912179;33968037;34087483;34171305;34405274;34509645;35051231;35318648;35494241;35580925;36010968;36284347;37938771;9380723;9668046", "class_list": "", "function": "E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates., [UniProtKB]; HERC6 ancestor emerged in nematodes and that the family expanded throughout evolution. The mRNA expression pattern was found to be diverse in selected tissues and cells, [RefSeq, PubMed]; HERC6 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM, Mar 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 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": 22, "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": "B4DIY5;Q5GC90;Q5GRH3;Q5HYM6;Q5JPB6;Q6PIF4;Q8NAN3;Q9NWS4", "ec_number_list": [ { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "2.3.2.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.34", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0016567 protein ubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q8IVU3-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q03933-1", "uniprot_id": [ { "id": "HSF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q03933", "type": "external" } ], "mass": 60348.0, "length": 536, "protein_name": "Heat shock factor protein 2", "gene_name": "HSF2", "organism": "Human", "refseq_name": "heat shock factor protein 2 isoform b", "refseq_ac": [ { "id": "NP_001129036", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129036", "type": "external" } ], "gene_names_uniprotkb": "HSF2; HSTF2", "gene_names_refseq": "HSF 2; HSF2; HSTF 2", "protein_names_uniprotkb": "Heat shock factor protein 2; HSF 2; HSTF 2; Heat shock transcription factor 2", "protein_names_refseq": "heat shock factor protein 2 isoform b; heat shock factor protein 2", "tax_id": 9606, "disease": "neurodegenerative disease (Disease Ontology:DOID:1289)", "pathway": " (hsa:3298)", "pathway_count": 1, "publication_count": 61, "publication_id_list": "11237011;1871106;22424782;22645359;23481700;25218447;25576301;25755297;25772364;26992070;27600516;27862975;28218747;28228285;28832583;28834231;28904123;29242379;29437277;29493099;29557506;29789417;30315122;30429286;30779550;30833945;31154438;31217245;31844290;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;34171305;34211107;34405274;34509645;34932366;35051231;35251023;36010968;36215666;36241641;36385105;36430241;37735976;38458311;8339932", "class_list": "", "function": "CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder. Erratum:[Nat Commun. 2023 Sep 28;14(1):6067. doi: 10.1038/s41467-023-41869-4. PMID: 37770591] Publication Status: Online-Only, [RefSeq, PubMed]; Comprehensive analysis of human tissues reveals unique expression and localization patterns of HSF1 and HSF2., [RefSeq, PubMed]; DNA-binding protein that specifically binds heat shock promoter elements (HSE) and activates transcription. In higher eukaryotes, HSF is unable to bind to the HSE unless the cells are heat shocked., [UniProtKB]; Genome-wide association study reveals HSF2, GJA1 and TRIM36 as susceptibility genes for preeclampsia: a community-based population study in Tianjin, China., [RefSeq, PubMed]; Heat Shock Transcription Factor 2 Is Significantly Involved in Neurodegenerative Diseases, Inflammatory Bowel Disease, Cancer, Male Infertility, and Fetal Alcohol Spectrum Disorder: The Novel Mechanisms of Several Severe Diseases. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the HSF family of transcription factors that bind specifically to the heat-shock promoter element and activate transcription. Heat shock transcription factors activate heat-shock response genes under conditions of heat or other stresses. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [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": 2, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DGJ4;Q0VAH9;Q2M1K4;Q9H445", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0042802 identical protein 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_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q03933-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BRA2-1", "uniprot_id": [ { "id": "TXD17_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BRA2", "type": "external" } ], "mass": 13941.0, "length": 123, "protein_name": "Thioredoxin domain-containing protein 17", "gene_name": "TXNDC17", "organism": "Human", "refseq_name": "thioredoxin domain-containing protein 17", "refseq_ac": [ { "id": "NP_116120", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_116120", "type": "external" } ], "gene_names_uniprotkb": "TXNDC17; TXNL5", "gene_names_refseq": "TRP14; TXNDC17; TXNL5", "protein_names_uniprotkb": "Thioredoxin domain-containing protein 17; 14 kDa thioredoxin-related protein; Protein 42-9-9; TRP14; Thioredoxin-like protein 5", "protein_names_refseq": "14 kDa thioredoxin-related protein; protein 42-9-9; testicular tissue protein Li 214; thioredoxin (Trx)-related protein, 14 kDa; thioredoxin domain-containing protein 17; thioredoxin-like 5; thioredoxin-like protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:84817)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "11237011;14607843;14607844;15355959;18579519;20068231;25607466;25810538;26992070;28228285;28834231;29242379;29557506;30315122;31844290;32265295;32350084;32502341;32938616;32983136;33043033;33214551;33359085;33592498;33912179;34019948;35051231;35580925;36241641;38665916;38811853;39441737", "class_list": "", "function": "Cellular S-denitrosylases: Potential role and interplay of Thioredoxin, TRP14, and Glutaredoxin systems in thiol-dependent protein denitrosylation. Review article, [RefSeq, PubMed]; Data report the crystal structure of human thioredoxin-related protein 14 determined at 1.8-angstrom resolution., [RefSeq, PubMed]; Disulfide reductase. May participate in various redox reactions through the reversible oxidation of its active center dithiol to a disulfide and catalyze dithiol-disulfide exchange reactions. Modulates TNF signaling and NF-kappa-B activation. Has peroxidase activity and may contribute to the elimination of cellular hydrogen peroxide., [UniProtKB, PubMed, PubMed]; In-Depth Proteomic Analysis of Paraffin-Embedded Tissue Samples from Colorectal Cancer Patients Revealed TXNDC17 and SLC8A1 as Key Proteins Associated with the Disease., [RefSeq, PubMed]; LC8 binds IkappaBalpha in a redox-dependent manner and thereby prevents its phosphorylation by IKK. TRP14 contributes to this inhibitory activity by maintaining LC8 in a reduced state., [RefSeq, PubMed]; TRP14 is a thioredoxin-related protein of 14 kDa, [RefSeq, PubMed]; TRP14 is a thioredoxin-related protein with roles in tumor necrosis factor-alpha signaling pathways, [RefSeq, PubMed]; TRP14 is the rate-limiting enzyme for intracellular cystine reduction and regulates proteome cysteinylation., [RefSeq, PubMed]; TXNDC17, through participation of BECN1, induces autophagy and consequently results in paclitaxel resistance in ovarian 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": 4, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K7E8", "ec_number_list": [], "go_molecular_function": "GO:0047134 protein-disulfide reductase [NAD(P)H] activity", "go_cellular_component": "GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0033209 tumor necrosis factor-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q9BRA2-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49758-4", "uniprot_id": [ { "id": "RGS6_HUMAN", "url": "https://www.uniprot.org/uniprot/P49758", "type": "external" } ], "mass": 54423.0, "length": 472, "protein_name": "Regulator of G protein signaling 6", "gene_name": "RGS6", "organism": "Human", "refseq_name": "regulator of G-protein signaling 6 isoform 1", "refseq_ac": [ { "id": "NP_001191345", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191345", "type": "external" } ], "gene_names_uniprotkb": "RGS6", "gene_names_refseq": "GAP; HA117; RGS6; S914", "protein_names_uniprotkb": "Regulator of G protein signaling 6; RGS6; S914", "protein_names_refseq": "regulator of G-protein signaling 6 isoform 1; regulator of G-protein signalling 6", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); depressive disorder (Disease Ontology:DOID:1596)", "pathway": " (hsa:9628); (R-HSA-418594); (R-HSA-6814122)", "pathway_count": 3, "publication_count": 35, "publication_id_list": "10339615;10521509;11007482;12120503;12761221;15889144;15951850;16634148;16702223;16717095;16923326;18434541;18577758;19376773;23637185;2534964;25659125;25675501;2748346;2834384;28731026;28832583;29557506;30315122;31120439;33912179;34171305;35051231;35902557;38409136;7596406;7937899;8015379;8406495;9153422", "class_list": "", "function": "Age-dependent nigral dopaminergic neurodegeneration and alpha-synuclein accumulation in RGS6-deficient mice. Publication Status: Online-Only, [RefSeq, PubMed]; RGS6 drives cardiomyocyte death following nucleolar stress by suppressing Nucleolin/miRNA-21. Publication Status: Online-Only, [RefSeq, PubMed]; RGS6 gene structure, complex alternative splicing, and role of N terminus and G protein gamma-subunit-like (GGL) domain in subcellular localization of RGS6 splice variants, [RefSeq, PubMed]; RGS6 suppresses TGF-beta-induced epithelial-mesenchymal transition in non-small cell lung cancers via a novel mechanism dependent on its interaction with SMAD4. Publication Status: Online-Only, [RefSeq, PubMed]; Regulates G protein-coupled receptor signaling cascades. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form. The RGS6/GNB5 dimer enhances GNAO1 GTPase activity (PubMed:10521509)., [UniProtKB, PubMed]; The results suggest that HA117 regulates the development of drug resistance in CT26 cells in vitro and in vivo., [RefSeq, PubMed]; This gene encodes a member of the RGS (regulator of G protein signaling) family of proteins, which are defined by the presence of a RGS domain that confers the GTPase-activating activity of these proteins toward certain G alpha subunits. This protein also belongs to a subfamily of RGS proteins characterized by the presence of DEP and GGL domains, the latter a G beta 5-interacting domain. The RGS proteins negatively regulate G protein signaling, and may modulate neuronal, cardiovascular, lymphocytic activities, and cancer risk. Many alternatively spliced transcript variants encoding different isoforms with long or short N-terminal domains, complete or incomplete GGL domains, and distinct C-terminal domains, have been described for this gene, however, the full-length nature of some of these variants is not known.[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": 2, "reported_glycation": 0, "reported_snv": 7, "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": "C9JE95;F8W7W5;O75576;O75577;Q7Z4K3;Q7Z4K4;Q7Z4K5;Q7Z4K6;Q8TE13;Q8TE14;Q8TE15;Q8TE16;Q8TE17;Q8TE18;Q8TE19;Q8TE20;Q8TE21;Q8TE22;Q9UDS8;Q9UDT0;Q9Y245;Q9Y647", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0035556 intracellular signal transduction;GO:0043547 positive regulation of GTPase activity;GO:0009968 negative regulation of signal transduction;GO:0008277 regulation of G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "P49758-4", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TAX9-4", "uniprot_id": [ { "id": "GSDMB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TAX9", "type": "external" } ], "mass": 47348.0, "length": 416, "protein_name": "Gasdermin-B", "gene_name": "GSDMB", "organism": "Human", "refseq_name": "gasdermin-B isoform 1", "refseq_ac": [ { "id": "NP_001035936", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035936", "type": "external" } ], "gene_names_uniprotkb": "GSDMB; GSDML; PP4052; PRO2521", "gene_names_refseq": "GSDMB-1; GSDMB; GSDML; PP4052; PRO2521", "protein_names_uniprotkb": "Gasdermin-B; Gasdermin-like protein", "protein_names_refseq": "gasdermin-B isoform 1; gasdermin-like protein; gasderminB-1", "tax_id": 9606, "disease": "childhood-onset asthma (Disease Ontology:DOID:0080815); allergic disease (Disease Ontology:DOID:1205); atherosclerosis (Disease Ontology:DOID:1936); asthma (Disease Ontology:DOID:2841); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); lung adenocarcinoma (Disease Ontology:DOID:3910); allergic asthma (Disease Ontology:DOID:9415)", "pathway": " (hsa:55876)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11483580;15010812;15498874;16625320;16959974;17350798;17391312;18038310;19051310;27281216;28154144;30620550;32299851;34022140;35021065;36157507;36599845;36899106;36991122;36991125;38037340;38599239;39029644", "class_list": "", "function": "Evolutionary recombination hotspot around the GSDML-GSDM locus is closely linked to oncogenomic recombination hotspot around the PPP1R1B-STARD3-TCAP-PNMT-PERLD1-ERBB2-C17orf37-GRB7 amplicon at human chromosome 17q12., [RefSeq, PubMed]; GSDMB involvement in the pathogenesis of abdominal aortic aneurysm through regulation of macrophage non-canonical pyroptosis., [RefSeq, PubMed]; Not able to trigger pyroptosis., [UniProtKB, PubMed, PubMed, PubMed]; Pore-forming protein produced by cleavage by granzyme A (GZMA), which causes membrane permeabilization and pyroptosis in target cells of cytotoxic T and natural killer (NK) cells (PubMed:27281216, PubMed:32299851). Key downstream mediator of granzyme-mediated cell death: (1) granzyme A (GZMA), delivered to target cells from cytotoxic T- and NK-cells, (2) specifically cleaves Gasdermin-B to generate this form (PubMed:32299851). After cleavage, moves to the plasma membrane, homooligomerizes within the membrane and forms pores of 10-15 nanometers (nm) of inner diameter, triggering pyroptosis (PubMed:32299851, PubMed:36599845, PubMed:36991122, PubMed:36991125). The different isoforms recognize and bind different phospholipids on membranes, promoting cell death of different target cells (PubMed:34022140, PubMed:36157507, PubMed:36991122, PubMed:36991125)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Precursor of a pore-forming protein that acts as a downstream mediator of granzyme-mediated cell death (PubMed:32299851). This form constitutes the precursor of the pore-forming protein: upon cleavage, the released N-terminal moiety (Gasdermin-B, N-terminal) binds to membranes and forms pores, triggering pyroptosis (PubMed:32299851). Also acts as a regulator of epithelial cell repair independently of programmed cell death: translocates to the plasma membrane and promotes epithelial maintenance and repair by regulating PTK2/FAK-mediated phosphorylation of PDGFA (PubMed:35021065)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Structural and functional insights into GSDMB isoforms complex roles in pathogenesis. Review article, [RefSeq, PubMed]; Structural basis for GSDMB pore formation and its targeting by IpaH7.8., [RefSeq, PubMed]; This gene encodes a member of the gasdermin-domain containing protein family. Other gasdermin-family genes are implicated in the regulation of apoptosis in epithelial cells, and are linked to cancer. Alternative splicing and the use of alternative promoters results in multiple transcript variants. Additional variants have been described, but they are candidates for nonsense-mediated mRNA decay (NMD) and are unlikely to be protein-coding. [provided by RefSeq, Nov 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": 0, "reported_mutagensis": 39, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DKK7;Q7Z377;Q8WY76;Q9NX71;Q9P163", "ec_number_list": [], "go_molecular_function": "GO:0005543 phospholipid binding;GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0070273 phosphatidylinositol-4-phosphate binding;GO:0001786 phosphatidylserine binding;GO:0022829 wide pore channel activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0050829 defense response to Gram-negative bacterium;GO:0042742 defense response to bacterium;GO:0031640 killing of cells of another organism;GO:0070269 pyroptotic inflammatory response;GO:0051873 killing by host of symbiont cells", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q8TAX9-4", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2M3T9-1", "uniprot_id": [ { "id": "HYAL4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2M3T9", "type": "external" } ], "mass": 54249.0, "length": 481, "protein_name": "Hyaluronidase-4", "gene_name": "HYAL4", "organism": "Human", "refseq_name": "hyaluronidase-4", "refseq_ac": [ { "id": "NP_036401", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036401", "type": "external" } ], "gene_names_uniprotkb": "HYAL4", "gene_names_refseq": "CSHY; HYAL-4; HYAL4", "protein_names_uniprotkb": "Hyaluronidase-4; 3.2.1.35; CSHY; Chondroitin sulfate endo-beta-N-acetylgalactosaminidase; Chondroitin sulfate hydrolase; Hyal-4; Hyaluronoglucosaminidase-4", "protein_names_refseq": "chondroitin sulfate endo-beta-N-acetylgalactosaminidase; chondroitin sulfate hydrolase; hyaluronidase-4; hyaluronoglucosaminidase 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:23553); (R-HSA-2024101); (R-HSA-2160916)", "pathway_count": 3, "publication_count": 46, "publication_id_list": "10.1101/2023.09.13.557529;10339581;10493834;11237011;11350981;11568288;12888274;14514708;15035633;15090545;15503855;15510212;15647514;16104017;17050540;1907800;19139490;19224584;1928092;1946389;19889881;2122463;23086929;23481700;23509262;24715725;25892735;2971395;29741879;29789417;30524438;3134052;32094233;34561969;3468507;35051231;37074911;5822067;738706;7628016;8213840;8282124;8901634;9223416;9521684;9712871", "class_list": "glycogene;glycosylhydrolase", "function": "A Novel Splice Variant of HYAL-4 Drives Malignant Transformation and Predicts Outcome in Patients with Bladder Cancer., [RefSeq, PubMed]; Endo-hyaluronidase that degrades hyaluronan to smaller oligosaccharide fragments. Also has chondroitin sulfate hydrolase activity, The best substrate being the galactosaminidic linkage in the sequence of a trisulfated tetrasaccharide., [UniProtKB, PubMed, PubMed]; Identification of amino acid residues required for the substrate specificity of human and mouse chondroitin sulfate hydrolase (conventional hyaluronidase-4)., [RefSeq, PubMed]; Identification of human hyaluronidase-4 as a novel chondroitin sulfate hydrolase that preferentially cleaves the galactosaminidic linkage in the trisulfated tetrasaccharide sequence, [RefSeq, PubMed]; This gene encodes a protein which is similar in structure to hyaluronidases but lacks hyaluronidase activity. The encoded protein acts as a chondroitin-sulfate-specific endo-beta-N-acetylgalactosaminidase; that is, it exhibits hydrolytic activity toward chondroitin sulfate chains and degrades them into oligosaccharides. Proteoglycans are formed by the covalent linkage of chondroitin sulfate chains to protein. Proteoglycans are ubiquitous components of the extracellular matrix of connective tissues and are also found at the surface of many cell types where they participate in a variety of cellular processes such as cell proliferation, differentiation, migration, cell-cell recognition, extracellular matrix deposition, and tissue morphogenesis. The expression of this gene is highest in testes and placenta. [provided by RefSeq, Apr 2019]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 681, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 11, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "D0VXG1;Q9UL99;Q9Y6T9", "ec_number_list": [ { "id": "3.2.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.35", "type": "external" } ], "go_molecular_function": "GO:0004415 hyalurononglucosaminidase activity;GO:0052757 chondroitin hydrolase activity", "go_cellular_component": "GO:0009986 cell surface;GO:0016020 membrane;GO:0005764 lysosome;GO:0031410 cytoplasmic vesicle;GO:0043202 lysosomal lumen", "go_biological_process": "GO:0005975 carbohydrate metabolic process;GO:0006027 glycosaminoglycan catabolic process;GO:0030207 chondroitin sulfate proteoglycan catabolic process;GO:0030214 hyaluronan catabolic process", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q2M3T9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q75N03-1", "uniprot_id": [ { "id": "HAKAI_HUMAN", "url": "https://www.uniprot.org/uniprot/Q75N03", "type": "external" } ], "mass": 54519.0, "length": 491, "protein_name": "E3 ubiquitin-protein ligase Hakai", "gene_name": "CBLL1", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase Hakai isoform 2", "refseq_ac": [ { "id": "NP_001271220", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001271220", "type": "external" } ], "gene_names_uniprotkb": "CBLL1; HAKAI; RNF188", "gene_names_refseq": "CBLL1; HAKAI; RNF188", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase Hakai; 2.3.2.27; Casitas B-lineage lymphoma-transforming sequence-like protein 1; RING finger protein 188; RING-type E3 ubiquitin transferase Hakai; c-Cbl-like protein 1", "protein_names_refseq": "Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1; Cbl proto-oncogene like 1, E3 ubiquitin protein ligase; Cbl proto-oncogene, E3 ubiquitin protein ligase-like 1; E-cadherin binding protein E7; E3 ubiquitin-protein ligase Hakai isoform 2; E3 ubiquitin-protein ligase Hakai; RING finger protein 188; RING-type E3 ubiquitin transferase Hakai; c-Cbl-like protein 1; casitas B-lineage lymphoma-transforming sequence-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:79872); (R-HSA-8876493); (R-HSA-9766229); (R-HSA-9958810)", "pathway_count": 4, "publication_count": 78, "publication_id_list": "10406800;11237011;14517306;17287340;17627624;17686471;18624796;18653540;18669648;19535458;19690332;20068231;22323579;23186163;23481700;24100041;24366607;25253721;25645385;26280083;28278510;28514659;28657654;28832583;28834231;28904123;29237092;29242379;29351928;29356040;29393594;29493099;29507755;29557506;29632046;29786170;29789417;30059200;30315122;30429286;30620550;31154438;31492838;31530632;31646569;31844290;31848261;32161166;32357974;32387766;32574038;32938616;33214551;33298915;33592498;33691108;33968037;34019948;34405274;34509645;34561969;34846842;35051231;35254053;35289036;35318648;35580925;36010968;36266428;36284347;38062063;38339195;38665916;39012313;39531497;40596516;8601315;8672527", "class_list": "", "function": "CBLL1 is hypomethylated and correlates with cortical thickness in transgender men before gender affirming hormone treatment. Publication Status: Online-Only, [RefSeq, PubMed]; CBLL1 promotes endometrial stromal cell senescence via inhibiting PTEN in recurrent spontaneous abortion., [RefSeq, PubMed]; Downregulation of long non-coding RNA XIST inhibits cell proliferation, migration, invasion and EMT by regulating miR-212-3p/CBLL1 axis in non-small cell lung cancer cells., [RefSeq, PubMed]; E3 ubiquitin-protein ligase that mediates ubiquitination of several tyrosine-phosphorylated Src substrates, including CDH1, CTTN and DOK1 (By similarity). Targets CDH1 for endocytosis and degradation (By similarity). Associated component of the WMM complex, a complex that mediates N6-methyladenosine (m6A) methylation of RNAs, a modification that plays a role in the efficiency of mRNA splicing and RNA processing (PubMed:29507755). Its function in the WMM complex is unknown (PubMed:29507755)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Results suggest that Hakai is an important regulator of cell proliferation and that Hakai may be an oncoprotein and a potential molecular target for cancer treatment., [RefSeq, PubMed]; Role of the E3 ubiquitin-ligase Hakai in intestinal inflammation and cancer bowel disease. Publication Status: Online-Only, [RefSeq, PubMed]; Stratification of Colorectal Patients Based on Survival Analysis Shows the Value of Consensus Molecular Subtypes and Reveals the CBLL1 Gene as a Biomarker of CMS2 Tumours. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an E3 ubiquitin-ligase for the E-cadherin complex and mediates its ubiquitination, endocytosis, and degradation in the lysosomes. The encoded protein contains a RING-finger domain and is also thought to have a role in control of cell proliferation. A related pseudogene has been identified on chromosome X. Alternative splicing results in a non-coding transcript variant. [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": 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": 10, "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": "B7ZM03;Q8TAJ4;Q9H5S6", "ec_number_list": [ { "id": "3.4.22.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.15", "type": "external" }, { "id": "3.4.22.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.1", "type": "external" }, { "id": "3.4.22.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.27", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0036396 RNA N6-methyladenosine methyltransferase complex;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016607 nuclear speck", "go_biological_process": "GO:0006397 mRNA processing;GO:0007162 negative regulation of cell adhesion;GO:0030155 regulation of cell adhesion;GO:0030335 positive regulation of cell migration;GO:0098609 cell-cell adhesion", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "Q75N03-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZB2-1", "uniprot_id": [ { "id": "F120A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZB2", "type": "external" } ], "mass": 121888.0, "length": 1118, "protein_name": "Constitutive coactivator of PPAR-gamma-like protein 1", "gene_name": "FAM120A", "organism": "Human", "refseq_name": "constitutive coactivator of PPAR-gamma-like protein 1 isoform b", "refseq_ac": [ { "id": "NP_001273651", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273651", "type": "external" } ], "gene_names_uniprotkb": "FAM120A; C9orf10; KIAA0183; OSSA", "gene_names_refseq": "C9orf10; FAM120A; HBVPTPAP; OSSA", "protein_names_uniprotkb": "Constitutive coactivator of PPAR-gamma-like protein 1; Oxidative stress-associated SRC activator; Protein FAM120A", "protein_names_refseq": "constitutive coactivator of PPAR-gamma-like protein 1 isoform b; constitutive coactivator of PPAR-gamma-like protein 1; family with sequence similarity 120A; oxidative stess-associated Src activator; oxidative stress-associated Src activator", "tax_id": 9606, "disease": "", "pathway": " (hsa:23196)", "pathway_count": 1, "publication_count": 114, "publication_id_list": "10.1101/2023.09.13.557529;11237011;14585507;15592455;16964243;17081983;17924679;18220336;18669648;18691976;19015244;19690332;20058876;20068231;22424782;22645359;23186163;23301498;23481700;23783831;24129315;24275569;24714562;24715725;24958902;25576301;25645385;25810538;25892735;26154972;26728094;26992070;27600516;27846572;27862975;27893789;27920218;28218747;28228285;28446606;28467828;28510447;28514659;28649982;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632711;29769354;29786170;29789417;30315122;30410026;30429286;30451992;30484775;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33123756;33141586;33298915;33592498;33633747;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34229054;34357683;34449947;34509645;34932366;35051231;35132862;35318648;35580925;36010968;36215666;36241641;36284347;36581221;37595559;38339971;38565940;38665916;40250624", "class_list": "", "function": "C9orf10/Ossa regulates the bone metastasis of established lung adenocarcinoma cell subline H322L-BO4 in a mouse model., [RefSeq, PubMed]; CircFAM120A participates in repeated implantation failure by regulating decidualization via the miR-29/ABHD5 axis., [RefSeq, PubMed]; FAM120A couples SREBP-dependent transcription and splicing of lipogenesis enzymes downstream of mTORC1., [RefSeq, PubMed]; FAM120A deficiency improves resistance to cisplatin in gastric cancer by promoting ferroptosis. Publication Status: Online-Only, [RefSeq, PubMed]; Membrane-associated scaffold protein that participates in multiple cellular processes, including oxidative stress-induced survival signaling, RNA trafficking and translational regulation, and the modulation of membrane signaling through its interaction with RNA-binding proteins and lipid raft-associated domains (PubMed:19015244). Functions as a regulator of activation of several intracellular kinases, including SRC, FAK, and PI3K, following oxidative stress (PubMed:19015244). Promotes RNA splicing and stability of lipogenic enzymes (PubMed:37595559). Mechanistically, recruits the lipogenic transcription factor SREBP1 at active promoters, thereby bridging the newly transcribed lipogenic genes from RNA polymerase II to the SRSF1 and U1-70K-containing RNA-splicing machinery (PubMed:37595559). Associates with key proteins of the NLRP3 inflammasome pathway and subsequently inhibits NLRP3 inflammasome activation (PubMed:40250624). Sequesters a subset of AGO2-bound mRNAs from miRNA-mediated silencing by binding to poly(G)-rich motifs in their 3'-UTR independently of the AGO2 binding site, likely by preventing recruitment of miRISC effectors (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Study reports that C9orf10 (designated Ossa for oxidative stress-associated Src activator) is a novel RNA-binding protein that guards cancer cells from oxidative stress-induced apoptosis by activation of Src family kinases, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 18, "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": "A6NGU0;C4AMC6;O60649;Q14688;Q4VXF4;Q4VXF5;Q4VXG2;Q86V69;Q96I21;Q9NZB1", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 11.9, "record_id": "Q9NZB2-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P36551-1", "uniprot_id": [ { "id": "HEM6_HUMAN", "url": "https://www.uniprot.org/uniprot/P36551", "type": "external" } ], "mass": 50152.0, "length": 454, "protein_name": "Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial", "gene_name": "CPOX", "organism": "Human", "refseq_name": "oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial precursor", "refseq_ac": [ { "id": "NP_000088", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000088", "type": "external" } ], "gene_names_uniprotkb": "CPOX; CPO; CPX", "gene_names_refseq": "COX; CPOX; CPO; CPX; HARPO; HCP", "protein_names_uniprotkb": "Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial; 1.3.3.3; COX; Coprogen oxidase; Coproporphyrinogenase", "protein_names_refseq": "coprogen oxidase; coproporphyrinogenase; homozygous coproporphyria; oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial precursor; oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); hereditary coproporphyria (Disease Ontology:DOID:13269); cancer (Disease Ontology:DOID:162); liver disease (Disease Ontology:DOID:409); harderoporphyria (MONDO:MONDO:0030048)", "pathway": " (hsa:1371); (R-HSA-189451)", "pathway_count": 2, "publication_count": 90, "publication_id_list": "10.1101/2023.09.13.557529;10706561;11032836;11032841;11175906;11237011;12181641;12474143;12773194;12862310;15235026;15863660;15896662;16121195;16176984;16258391;16398658;1939222;20068231;20705604;21103937;22765978;23467411;23481700;24078084;25576301;25892735;27920218;28228285;28510447;28514659;28832583;28904123;29242379;29393594;29508533;29557506;29632046;29632711;29769354;30192525;30315122;30385147;30429286;31217245;31530632;31844290;31848261;32157095;32265295;32350084;32357974;32488085;32502341;32938616;33141586;33592498;33968037;33981976;33991015;34171305;34229054;34357683;34561969;34725712;35051231;35251023;36284347;36581221;3805019;666752;6822570;7354069;7592565;7757079;7849704;7987309;8012360;8078902;8159699;8286403;8644733;8771201;8990017;9048920;9177788;9298818;9843038;9878253;9888388", "class_list": "", "function": "Catalyzes the aerobic oxidative decarboxylation of propionate groups of rings A and B of coproporphyrinogen-III to yield the vinyl groups in protoporphyrinogen-IX and participates to the sixth step in the heme biosynthetic pathway., [UniProtKB, PubMed]; Mount Sinai Porphyrias Diagnostic Laboratory diagnosed 29 unrelated Hereditary Coproporphyria individuals with 11 previously unreported CPOX mutations., [RefSeq, PubMed]; Polymorphism of coproporphyrinogen oxidase is associated with genetic susceptibility to the adverse neurobehavioral effects of Hg exposure in children., [RefSeq, PubMed]; TMEM106B and CPOX are genetic determinants of cerebrospinal fluid Alzheimer's disease biomarker levels., [RefSeq, PubMed]; The monomer form of mutated CPOX did not show any activity and homodimeric enzymes derived from Hereditary coproporphyria (HCP) mutant showed low activity (<20% of the control)., [RefSeq, PubMed]; The protein encoded by this gene is the sixth enzyme of the heme biosynthetic pathway. The encoded enzyme is soluble and found in the intermembrane space of mitochondria. This enzyme catalyzes the stepwise oxidative decarboxylation of coproporphyrinogen III to protoporphyrinogen IX, a precursor of heme. Defects in this gene are a cause of hereditary coproporphyria (HCP).[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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 5, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K275;B4DSD5;Q14060;Q53F08;Q8IZ45;Q96AF3", "ec_number_list": [ { "id": "1.3.3.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.3.3", "type": "external" } ], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0005212 structural constituent of eye lens;GO:0004109 coproporphyrinogen oxidase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005758 mitochondrial intermembrane space", "go_biological_process": "GO:0046685 response to arsenic-containing substance;GO:0010288 response to lead ion;GO:0051597 response to methylmercury;GO:0010039 response to iron ion;GO:0006783 heme biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "P36551-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TAC1-1", "uniprot_id": [ { "id": "RFESD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TAC1", "type": "external" } ], "mass": 17762.0, "length": 157, "protein_name": "Rieske domain-containing protein", "gene_name": "RFESD", "organism": "Human", "refseq_name": "Rieske domain-containing protein isoform 1", "refseq_ac": [ { "id": "NP_001124537", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124537", "type": "external" } ], "gene_names_uniprotkb": "RFESD", "gene_names_refseq": "RFESD", "protein_names_uniprotkb": "Rieske domain-containing protein", "protein_names_refseq": "Rieske domain-containing protein isoform 1; rieske domain-containing protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:317671)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;23186163", "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": "J3KPH1", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0051537 2 iron, 2 sulfur cluster binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q8TAC1-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15347-1", "uniprot_id": [ { "id": "HMGB3_HUMAN", "url": "https://www.uniprot.org/uniprot/O15347", "type": "external" } ], "mass": 22980.0, "length": 200, "protein_name": "High mobility group protein B3", "gene_name": "HMGB3", "organism": "Human", "refseq_name": "high mobility group protein B3 isoform a", "refseq_ac": [ { "id": "NP_001288157", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001288157", "type": "external" } ], "gene_names_uniprotkb": "HMGB3; HMG2A; HMG4", "gene_names_refseq": "HMG-2a; HMG-4; HMG2A; HMG4; HMGB3", "protein_names_uniprotkb": "High mobility group protein B3; HMG-2a; HMG-4; High mobility group protein 2a; High mobility group protein 4", "protein_names_refseq": "high mobility group protein 2a; high mobility group protein B3 isoform a; high mobility group protein B3; high-mobility group (nonhistone chromosomal) protein 4", "tax_id": 9606, "disease": "syndromic microphthalmia 13 (Disease Ontology:DOID:0111811)", "pathway": " (hsa:3149)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "11237011;17074750;20598277;23301498;24531895;24714562;24715725;24993872;26154972;26992070;27846572;28510447;28904123;29557506;31154438;31611695;31844290;32157095;32387766;33141586;33214551;33298915;33936100;34019948;34171305;35138101;35251023;35580925;37328851;38761792;39062899;39101269;39390359;39894887;9370291", "class_list": "", "function": "ELAVL1 regulates glycolysis in nasopharyngeal carcinoma cells through the HMGB3/beta-catenin axis. Publication Status: Online-Only, [RefSeq, PubMed]; Exosomal HMGB3 released by glioma cells confers the activation of NLRP3 inflammasome and pyroptosis in tumor-associated macrophages., [RefSeq, PubMed]; HMGB3 and SUB1 Bind to and Facilitate the Repair of N[2]-Alkylguanine Lesions in DNA., [RefSeq, PubMed]; HMGB3 promotes the malignant phenotypes and stemness of epithelial ovarian cancer through the MAPK/ERK signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Multifunctional protein with various roles in different cellular compartments. May act in a redox sensitive manner. Associates with chromatin and binds DNA with a preference for non-canonical DNA structures such as single-stranded DNA. Can bend DNA and enhance DNA flexibility by looping thus providing a mechanism to promote activities on various gene promoters (By similarity). Proposed to be involved in the innate immune response to nucleic acids by acting as a cytoplasmic promiscuous immunogenic DNA/RNA sensor (By similarity). Negatively regulates B-cell and myeloid cell differentiation. In hematopoietic stem cells may regulate the balance between self-renewal and differentiation. Involved in negative regulation of canonical Wnt signaling (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Structure and Functions of HMGB3 Protein. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of a family of proteins containing one or more high mobility group DNA-binding motifs. The encoded protein plays an important role in maintaining stem cell populations, and may be aberrantly expressed in tumor cells. A mutation in this gene was associated with microphthalmia, syndromic 13. There are numerous pseudogenes of this gene on multiple chromosomes. 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "O95556;Q6NS40", "ec_number_list": [], "go_molecular_function": "GO:0008301 DNA binding, bending;GO:0003723 RNA binding;GO:0003690 double-stranded DNA binding;GO:0000400 four-way junction DNA binding;GO:0003677 DNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005694 chromosome", "go_biological_process": "GO:0006310 DNA recombination;GO:0006351 DNA-templated transcription;GO:0045087 innate immune response;GO:0032392 DNA geometric change", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "O15347-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXP5-1", "uniprot_id": [ { "id": "SRRT_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXP5", "type": "external" } ], "mass": 100666.0, "length": 876, "protein_name": "Serrate RNA effector molecule homolog", "gene_name": "SRRT", "organism": "Human", "refseq_name": "serrate RNA effector molecule homolog isoform c", "refseq_ac": [ { "id": "NP_001122324", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122324", "type": "external" } ], "gene_names_uniprotkb": "SRRT; ARS2; ASR2", "gene_names_refseq": "ARS2; ASR2; SRRT; serrate", "protein_names_uniprotkb": "Serrate RNA effector molecule homolog; Arsenite-resistance protein 2", "protein_names_refseq": "arsenate resistance protein 2; arsenate resistance protein ARS2; arsenite resistance protein; arsenite-resistance protein 2; serrate RNA effector molecule homolog isoform c; serrate RNA effector molecule homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:51593); (R-HSA-6807505); (R-HSA-72163); (R-HSA-9770562); (R-HSA-9918481); (R-HSA-9930044)", "pathway_count": 6, "publication_count": 292, "publication_id_list": "10022900;10069470;10669729;10882114;11014198;11060040;11101529;11230166;11233976;11237011;11239002;11747608;11856838;11991638;12176931;12411573;12414730;12414731;12477934;12574128;14519844;14625303;14701755;14713954;14749727;14762106;15037765;15084397;15302935;15345747;1535687;15565158;16239144;16308568;16314458;16809785;16901896;16964243;17081983;17095540;17128255;17174896;17322306;17332742;1739980;17412707;17606899;17693683;17924679;18079403;18086880;18212344;18220336;18288197;1829677;18322460;18452278;18593880;18669648;18707149;18767875;18991276;19103666;19165350;19217410;19413330;19415658;19536130;19546234;19632182;19651622;19664995;19667075;19690332;20068231;20166139;20423332;20457598;20695905;20858735;20980672;2125285;21295486;21406692;21536652;21705430;2176635;21855801;21911577;22110043;22137580;22231121;22252320;22365833;22441827;22645359;22813749;22959432;22961380;23166507;23186163;23222130;23236153;23345524;23481700;23874216;23932780;24076191;24097444;24129315;24149845;24196718;24270878;24275569;24304693;24366607;24448447;24714562;24737827;24914973;24997600;25301780;25301781;25418920;25555158;25576301;25578728;2558966;25645385;25662211;25675981;25810538;25892735;26024233;26092250;26154972;26375851;26382858;26385511;26420826;26728094;26811146;26969736;26992070;27108190;27377154;27397612;27434818;27452731;27459055;27600516;27683217;27846572;27862975;27871484;27920218;28062851;28063628;28076346;28096519;28218747;28228285;28502770;28510447;28781166;28832583;28904123;28911096;29186539;29242379;29274231;29298432;29301961;29314611;29360106;29361316;29393594;29437277;2944599;29493099;29508533;29557506;29632046;29632711;2963332;29769354;29786170;29789417;29902443;29906447;30139799;30257008;30315122;30315277;30410026;30524438;30599162;30705154;30728453;30765414;30842217;30975767;31217245;31409651;31818879;31844290;31950173;32157095;32179686;32265295;32329775;32350084;32357974;32387766;32463452;32494006;32502341;32532977;32816001;32897882;32938616;32983136;33091337;33123756;33141586;33177556;33214551;33243851;33298915;33392160;33446560;33592498;33633747;33691108;33717175;33767452;33912179;33913806;33968037;33981976;34019948;34060620;34078123;34171305;34301950;34509645;34561969;34725712;34822310;34846842;34932366;35051231;35154160;35177536;35215846;35251023;35318648;35385551;35561310;35580925;36010968;36241641;36284347;36581221;3757028;37875486;38665916;39302247;40596516;40914422;7715707;8253082;8339931;8566756;8608946;8628262;8668525;9009278;9016565;9153304;9188510;9242493;9407024;9512519;9524131;9539711;9659921;9671485;9701291;9705341;9731529;9832505", "class_list": "", "function": "ARS2/MAGL signaling in glioblastoma stem cells promotes self-renewal and M2-like polarization of tumor-associated macrophages. Publication Status: Online-Only, [RefSeq, PubMed]; ARS2/SRRT: at the nexus of RNA polymerase II transcription, transcript maturation and quality control. Review article, [RefSeq, PubMed]; Acts as a mediator between the cap-binding complex (CBC) and the primary microRNAs (miRNAs) processing machinery during cell proliferation. Contributes to the stability and delivery of capped primary miRNA transcripts to the primary miRNA processing complex containing DGCR8 and DROSHA, thereby playing a role in RNA-mediated gene silencing (RNAi) by miRNAs. Binds capped RNAs (m7GpppG-capped RNA); however interaction is probably mediated via its interaction with NCBP1/CBP80 component of the CBC complex. Involved in cell cycle progression at S phase. Does not directly confer arsenite resistance but rather modulates arsenic sensitivity. Independently of its activity on miRNAs, necessary and sufficient to promote neural stem cell self-renewal. Does so by directly binding SOX2 promoter and positively regulating its transcription (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; In the present study, the authors demonstrate that ARS2 regulates both the 3=-end processing and stability of NEAT1. Publication Status: Online-Only, [RefSeq, PubMed]; Mapping domains of ARS2 critical for its RNA decay capacity., [RefSeq, PubMed]; Nomenclature. Original paper and GenBank submission by Rossman and Wang (1999) called the gene Asr2 (arsenite resistance protein 2) as opposed to Ars2 (arsenate resistance protein 2)., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A4D2E5;A4D2E6;A6NK22;B4DJL4;B4DZA6;O95808;Q32MI4;Q6NT74;Q8TDQ5;Q9BWP6;Q9BXP4;Q9Y4S4", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0030674 protein-macromolecule adaptor activity;GO:0140262 mRNA cap binding complex binding;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016604 nuclear body;GO:0032991 protein-containing complex;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0046685 response to arsenic-containing substance;GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription;GO:0097150 neuronal stem cell population maintenance;GO:0050769 positive regulation of neurogenesis", "synthesized_glycan_count": 0, "hit_score": 29.5, "record_id": "Q9BXP5-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14545-1", "uniprot_id": [ { "id": "TRAD1_HUMAN", "url": "https://www.uniprot.org/uniprot/O14545", "type": "external" } ], "mass": 64841.0, "length": 582, "protein_name": "TRAF-type zinc finger domain-containing protein 1", "gene_name": "TRAFD1", "organism": "Human", "refseq_name": "TRAF-type zinc finger domain-containing protein 1", "refseq_ac": [ { "id": "NP_001137378", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137378", "type": "external" } ], "gene_names_uniprotkb": "TRAFD1; FLN29", "gene_names_refseq": "FLN29; TRAFD1", "protein_names_uniprotkb": "TRAF-type zinc finger domain-containing protein 1; Protein FLN29", "protein_names_refseq": "FLN29 gene product; TRAF-type zinc finger domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10906)", "pathway_count": 1, "publication_count": 82, "publication_id_list": "10.1101/2023.09.13.557529;11237011;15302935;16221674;16565220;16964243;17081983;17287340;18212344;18452278;18491316;18669648;18691976;18767875;19007248;19413330;19415658;19651622;19664994;19664995;19690332;19691289;20058876;20068231;20230923;21406692;23186163;24275569;24714562;24715725;26154972;26992070;27920218;28218747;28228285;28832583;28904123;29242379;29351928;29437277;29508533;29557506;29632711;30379171;30410026;30429286;30484775;30833945;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32502341;32938616;32983136;33141586;33298915;33691108;33717175;33936100;33968037;33981976;34087483;34171305;34185709;34509645;34932366;35051231;35318648;35494241;35580925;36010968;36215666;36241641;36284347;36672782;38665916", "class_list": "", "function": "FLN29 is a new negative feedback regulator of TLR signaling, [RefSeq, PubMed]; Integrative Multiomics and Regulatory Network Analyses Uncovers the Role of OAS3, TRAFD1, miR-222-3p, and miR-125b-5p in Hepatitis E Virus Infection. Publication Status: Online-Only, [RefSeq, PubMed]; Negative feedback regulator that controls excessive innate immune responses. Regulates both Toll-like receptor 4 (TLR4) and DDX58/RIG1-like helicases (RLH) pathways. May inhibit the LTR pathway by direct interaction with TRAF6 and attenuation of NF-kappa-B activation. May negatively regulate the RLH pathway downstream from MAVS and upstream of NF-kappa-B and IRF3 (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; The innate immune system confers host defense against viral and microbial infection, and TRAFD1 is a negative feedback regulator that controls excessive immune responses (Sanada et al., 2008 [PubMed 18849341]).[supplied by OMIM, Dec 2009]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 15, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 31, "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": "A8K5L6;B4DI89", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "GO:0045824 negative regulation of innate immune response", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "O14545-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86VS8-1", "uniprot_id": [ { "id": "HOOK3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86VS8", "type": "external" } ], "mass": 83126.0, "length": 718, "protein_name": "Protein Hook homolog 3", "gene_name": "HOOK3", "organism": "Human", "refseq_name": "protein Hook homolog 3", "refseq_ac": [ { "id": "NP_115786", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115786", "type": "external" } ], "gene_names_uniprotkb": "HOOK3", "gene_names_refseq": "HK3; HOOK3", "protein_names_uniprotkb": "Protein Hook homolog 3; h-hook3; hHK3", "protein_names_refseq": "h-hook3; hHK3; hook homolog 3; protein Hook homolog 3", "tax_id": 9606, "disease": "Emery-Dreifuss muscular dystrophy (Disease Ontology:DOID:11726)", "pathway": " (hsa:84376)", "pathway_count": 1, "publication_count": 71, "publication_id_list": "11237011;11238449;12950921;16959974;16964243;17237231;18669648;18799622;19651622;20068231;21993680;22223895;23186163;23301498;23481700;24275569;24714562;25035494;25505266;25576301;25645385;26375851;26992070;27846572;28228285;28514659;28649982;28832583;29242379;29493099;29557506;29632711;29786170;30429286;30524438;30779550;30833945;31154438;31217245;31844290;31848261;32073997;32157095;32350084;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33734450;33936100;33968037;33981976;34087483;34357683;34405274;34509645;34932366;35051231;35318648;35561310;35580925;36010968;36284347;37938771;38665916;40914422", "class_list": "", "function": "(Microbial infection) May serve as a target for the spiC protein from Salmonella typhimurium, which inactivates it, leading to a strong alteration in cellular trafficking., [UniProtKB]; Acts as an adapter protein linking the dynein motor complex to various cargos and converts dynein from a non-processive to a highly processive motor in the presence of dynactin. Facilitates the interaction between dynein and dynactin and activates dynein processivity (the ability to move along a microtubule for a long distance without falling off the track). Predominantly recruits 2 dyneins, which increases both the force and speed of the microtubule motor (PubMed:25035494, PubMed:33734450). Component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex). May regulate clearance of endocytosed receptors such as MSR1. Participates in defining the architecture and localization of the Golgi complex. FHF complex promotes the distribution of AP-4 complex to the perinuclear area of the cell (PubMed:32073997)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Hook proteins are cytosolic coiled-coil proteins that contain conserved N-terminal domains, which attach to microtubules, and more divergent C-terminal domains, which mediate binding to organelles. The Drosophila Hook protein is a component of the endocytic compartment.[supplied by OMIM, Apr 2004]., [RefSeq]; Salmonella SpiC targets the function of Hook3, a mammalian protein implicated in cellular trafficking., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DSY8;Q8NBH0;Q9BY13", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0042802 identical protein binding;GO:0034452 dynactin binding;GO:0051959 dynein light intermediate chain binding;GO:0045503 dynein light chain binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005813 centrosome;GO:0005874 microtubule;GO:0070695 FHF complex", "go_biological_process": "GO:0098840 protein transport along microtubule;GO:0007032 endosome organization;GO:0007040 lysosome organization;GO:0008333 endosome to lysosome transport;GO:0045022 early endosome to late endosome transport", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q86VS8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00746-1", "uniprot_id": [ { "id": "NDKD_HUMAN", "url": "https://www.uniprot.org/uniprot/O00746", "type": "external" } ], "mass": 20659.0, "length": 187, "protein_name": "Nucleoside diphosphate kinase D, mitochondrial", "gene_name": "NME4", "organism": "Human", "refseq_name": "nucleoside diphosphate kinase D, mitochondrial isoform b", "refseq_ac": [ { "id": "NP_001273362", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273362", "type": "external" } ], "gene_names_uniprotkb": "NME4; NM23D", "gene_names_refseq": "NDK4; NDK; NDPK-D; NDPKD; NM23H4; NME4; nm23-H4", "protein_names_uniprotkb": "Nucleoside diphosphate kinase D, mitochondrial; 2.7.4.6; NDK4; NDPK-D; Nucleoside diphosphate kinase 4; nm23-H4", "protein_names_refseq": "NDP kinase D; NDP kinase, mitochondrial; non-metastatic cells 4, protein expressed in; nucleoside diphosphate kinase 4; nucleoside diphosphate kinase D, mitochondrial isoform b; nucleoside diphosphate kinase D, mitochondrial; nucleoside diphosphate kinase D; nucleoside diphosphate kinase, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:4833); (R-HSA-499943)", "pathway_count": 2, "publication_count": 87, "publication_id_list": "10215863;10453732;10618642;10716435;10799505;10884394;10899599;11237011;11277919;11278511;11517226;11796141;11912132;12972261;13211603;14729598;15630091;16179339;16313181;16373698;16756507;16820675;17028143;17320107;177353;17824959;18469;1851158;18635542;18997010;19176520;19220460;19766732;20068231;21080915;211388;211390;22847445;23150663;23416111;23481700;23555621;24715725;24970086;2542324;25576301;26154972;2656695;2668278;26811146;27600516;27846572;27920218;28514659;28832583;28904123;29242379;29508533;29557506;29632046;30379171;30429286;31844290;31937595;32157095;32502341;33141586;33298915;33936100;34171305;34211107;34932366;35051231;36581221;37096311;39016535;40615;5484814;6182143;6248551;7685356;7851394;8448179;8663313;9099850;9488696;9677297", "class_list": "", "function": "Differential Expression of NME4 in Trophoblast Stem-Like Cells and Peripheral Blood Mononuclear Cells of Normal Pregnancy and Preeclampsia. Publication Status: Online-Only, [RefSeq, PubMed]; Mitochondria-specific nucleoside diphosphate kinase that catalyzes the transfer of a gamma-phosphoryl group from ATP to a nucleoside diphosphate via a ping-pong mechanism involving a phosphohistidine intermediate, participating in nucleoside triphosphate homeostasis (PubMed:10799505, PubMed:16313181, PubMed:18635542, PubMed:23150663). In vitro, purine nucleoside triphosphates are much more effective as donors and acceptors than pyrimidine nucleoside triphosphates, and ribonucleosides derivatives are superior to their deoxyribonucleosides counterparts (By similarity). Associates with cardiolipin-containing mitochondrial inner membrane and locally produces ADP in the mitochondrial intermembrane space, which is directly taken up via the ADP/ATP translocase (ANT) into the matrix to stimulate respiratory ATP regeneration (PubMed:18635542, PubMed:24970086). Also directly provides GTP for mitochondrial GTPases, such as the dynamin-related GTPase OPA1 (PubMed:24970086). Additionally, catalyzes the anionic phospholipid transfer, namely cardiolipin, from the mitochondrial inner membrane (IM) to the outer membrane (OM) through the formation of contact sites between IM and OM, in a nucleoside diphosphate kinase-independent manner (PubMed:17028143, PubMed:23150663). The switch between the nucleoside diphosphate kinase and the phospholipid transfer activity may depend on the availability and accessibility of cardiolipin and other anionic phospholipids in the IM outer leaflet and OM inner leaflet (PubMed:23150663)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; NME4 suppresses NFkappaB2-CCL5 axis, restricting CD8+ T cell tumour infiltration in oesophageal squamous cell carcinoma., [RefSeq, PubMed]; The nucleoside diphosphate (NDP) kinases (EC 2.7.4.6) are ubiquitous enzymes that catalyze transfer of gamma-phosphates, via a phosphohistidine intermediate, between nucleoside and dioxynucleoside tri- and diphosphates. The enzymes are products of the nm23 gene family, which includes NME4 (Milon et al., 1997 [PubMed 9099850]).[supplied by OMIM, May 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": 2, "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": "A2IDD0;Q5U0M9", "ec_number_list": [ { "id": "2.7.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.10", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" }, { "id": "2.7.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.4", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.4.14", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.14", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0005543 phospholipid binding;GO:0046872 metal ion binding;GO:0044877 protein-containing complex binding;GO:0051020 GTPase binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005743 mitochondrial inner membrane;GO:0005758 mitochondrial intermembrane space;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006869 lipid transport;GO:0009116 nucleoside metabolic process;GO:0034214 protein hexamerization;GO:0006183 GTP biosynthetic process;GO:0006228 UTP biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "O00746-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q04756-1", "uniprot_id": [ { "id": "HGFA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q04756", "type": "external" } ], "mass": 70682.0, "length": 655, "protein_name": "Hepatocyte growth factor activator serine protease", "gene_name": "HGFAC", "organism": "Human", "refseq_name": "hepatocyte growth factor activator serine protease isoform 1 preproprotein", "refseq_ac": [ { "id": "NP_001284368", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001284368", "type": "external" } ], "gene_names_uniprotkb": "HGFAC", "gene_names_refseq": "HGFAC; HGFA", "protein_names_uniprotkb": "Hepatocyte growth factor activator serine protease; 3.4.21.-; HGF activator; HGFA serine protease; HGFA; Serine protease HGFAC", "protein_names_refseq": "HGFA serine protease; hepatocyte growth factor activator serine protease isoform 1 preproprotein; hepatocyte growth factor activator serine protease; hepatocyte growth factor activator; serine protease HGFAC", "tax_id": 9606, "disease": "", "pathway": " (hsa:3083); (R-HSA-6806942)", "pathway_count": 2, "publication_count": 46, "publication_id_list": "10.1021/acs.analchem.6b02887;11237011;12726861;1280830;15167892;15218027;15301554;15324701;15340161;15713485;15792801;16335952;16537482;1655790;18077410;1885621;19159218;23090970;28035807;29391424;29671580;29741879;30459171;30626607;31844290;35051231;36182093;36413406;37074911;38077422;39894887;7513258;7651534;7683665;7708691;7854452;7854453;8197126;8208547;8226803;8302603;8346233;9045658;9140397;9346890;9874200", "class_list": "", "function": "HGFAC is a ChREBP-regulated hepatokine that enhances glucose and lipid homeostasis. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-4270 suppresses hepatocellular carcinoma progression by inhibiting DNMT3A-mediated methylation of HGFAC promoter. Publication Status: Online-Only, [RefSeq, PubMed]; Role of hypoxia on microRNA-dependant regulation of HGFA - HGF - c-Met signalling pathway in human progenitor and mature endothelial cells., [RefSeq, PubMed]; Serine protease that hydrolyzes the inactive zymogen hepatocyte growth factor (HGFsc) to an activated disulfide-linked heterodimer, then initiating hepatocyte growth factor receptor signaling pathway., [UniProtKB, PubMed, UniProtKB, UniProtKB]; This gene encodes a member of the peptidase S1 protein family. The encoded protein is first synthesized as an inactive single-chain precursor before being activated to a heterodimeric form by endoproteolytic processing. It acts as serine protease that converts hepatocyte growth factor to the active form. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]., [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": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 7, "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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 46, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 21, "disease_count": 0, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "Q14726;Q2M1W7;Q53X47", "ec_number_list": [ { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" } ], "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:0005791 rough endoplasmic reticulum;GO:0005829 cytosol;GO:0005737 cytoplasm", "go_biological_process": "GO:0006508 proteolysis;GO:0007596 blood coagulation;GO:0031638 zymogen activation", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q04756-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N3H0-1", "uniprot_id": [ { "id": "TAFA2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N3H0", "type": "external" } ], "mass": 14620.0, "length": 131, "protein_name": "Chemokine-like protein TAFA-2", "gene_name": "TAFA2", "organism": "Human", "refseq_name": "chemokine-like protein TAFA-2 precursor", "refseq_ac": [ { "id": "NP_848634", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_848634", "type": "external" } ], "gene_names_uniprotkb": "TAFA2; FAM19A2", "gene_names_refseq": "FAM19A2; TAFA-2; TAFA2", "protein_names_uniprotkb": "Chemokine-like protein TAFA-2", "protein_names_refseq": "chemokine-like protein TAFA-2 precursor; chemokine-like protein TAFA-2; family with sequence similarity 19 (chemokine (C-C motif)-like), member A2; family with sequence similarity 19 member A2, C-C motif chemokine like; protein FAM19A2", "tax_id": 9606, "disease": "", "pathway": " (hsa:338811)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;15028294;19240061;25112515;27416945;30485583", "class_list": "", "function": "Data identified two, BCL2 and FAM19A2, novel loci and replicated known variants associated with insulin sensitivity. Further studies are needed to clarify the causal variant and function at the BCL2 and FAM19A2 loci., [RefSeq, PubMed]; Has a role as neurotrophic factor involved in neuronal survival and neurobiological functions., [UniProtKB, UniProtKB]; Interleukin-1beta was found as an upstream regulator of TAFA2 expression. Our findings demonstrate that TAFA2 enhances hMSC migration and recruitment and thus is relevant for regenerative medicine applications., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines, that act as regulators of immune and nervous cells. [provided by RefSeq, Jul 2008]., [RefSeq]; Variants of FAM19A2 (rs348644) are associated with forced expiratory volume in COPD., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B3KVV4;Q4G0R9;Q68DK0;Q6GTX6", "ec_number_list": [], "go_molecular_function": "GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0007613 memory;GO:0008542 visual learning", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8N3H0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UJ83-1", "uniprot_id": [ { "id": "HACL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UJ83", "type": "external" } ], "mass": 63729.0, "length": 578, "protein_name": "2-hydroxyacyl-CoA lyase 1", "gene_name": "HACL1", "organism": "Human", "refseq_name": "2-hydroxyacyl-CoA lyase 1 isoform b", "refseq_ac": [ { "id": "NP_001271342", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001271342", "type": "external" } ], "gene_names_uniprotkb": "HACL1; HPCL2; HPCL; HSPC279; PHYH2", "gene_names_refseq": "2-HPCL; HACL1; HPCL2; HPCL; PHYH2", "protein_names_uniprotkb": "2-hydroxyacyl-CoA lyase 1; 2-HPCL; 2-hydroxyphytanoyl-CoA lyase; 4.1.2.63; Phytanoyl-CoA 2-hydroxylase 2", "protein_names_refseq": "1600020H07Rik; 2-hydroxyacyl-CoA lyase 1 isoform b; 2-hydroxyphytanol-CoA lyase; 2-hydroxyphytanoyl-CoA lyase; phytanoyl-CoA 2-hydroxylase 2; phytanoyl-CoA hydroxylase 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:26061); (R-HSA-389599); (R-HSA-9033241)", "pathway_count": 3, "publication_count": 123, "publication_id_list": "10022913;10198260;10468558;10562279;10673331;10811639;11101887;11237011;11546814;11555634;11781871;11931631;12445829;12456682;12559034;12578380;12717447;12885776;15545321;15644336;15858711;16186124;16546181;16756494;16854980;17007944;17726030;18359941;18712838;19197237;19208625;19413330;19584060;19632994;20178365;20558530;21554508;21708296;21976670;21980954;22002062;22057399;22371489;22747494;23186163;23481700;23963456;24235149;24323699;24714562;24865970;25016021;25418920;25538232;25576301;25645385;25854684;25880248;26086376;26138649;26154972;26220973;26344566;26758079;26929215;26992070;27090790;27597759;27600516;28228285;28289220;28521612;28611990;28765278;28787099;28832583;28834231;28904123;29242379;29393594;29632046;30315122;30379171;30524438;30573663;31217245;31530632;31844290;31848261;32157095;32265295;32357974;32387766;32488085;32897882;32938616;33298915;33633747;33717175;33912179;33968037;33981976;34171305;34509645;35051231;35580925;36241641;40596516;7719337;7790377;8824437;8858165;8991089;9090381;9090382;9090383;9166898;9539740;9653144;9662422;9668159;9837948;9874197", "class_list": "", "function": "2-hydroxyphytanoyl-CoA lyase has a role in the breakdown of long chain 2-hydroxyfatty acids, [RefSeq, PubMed]; Data show that a easy assay for 2-hydroxyacyl-CoA lyase (HACL1) and sphingosine-1-phosphate lyase (SGPL1) activities was developed., [RefSeq, PubMed]; Peroxisomal 2-OH acyl-CoA lyase involved in the cleavage (C1 removal) reaction in the fatty acid alpha-oxydation in a thiamine pyrophosphate (TPP)-dependent manner (PubMed:10468558, PubMed:21708296, PubMed:28289220). Involved in the degradation of 3-methyl-branched fatty acids like phytanic acid and the shortening of 2-hydroxy long-chain fatty acids (PubMed:10468558, PubMed:21708296, PubMed:28289220). Plays a significant role in the biosynthesis of heptadecanal in the liver (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Peroxisomal thiamine-pyrophosphate depending enzyme required for the degradation of phytanic acid, catalyzing the cleavage of 2-hydroxyphytanoyl-CoA lyase into formyl-CoA and pristanal, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DWI1;B4DXI5;E9PEN4;Q9BV42;Q9P0A2", "ec_number_list": [ { "id": "4.1.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.1.77", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.77", "type": "external" }, { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "3.1.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.27", "type": "external" }, { "id": "3.1.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.1", "type": "external" }, { "id": "3.1.2.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.11", "type": "external" }, { "id": "3.1.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.3", "type": "external" }, { "id": "3.1.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.5", "type": "external" }, { "id": "6.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.3", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "6.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.7", "type": "external" }, { "id": "6.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.24", "type": "external" }, { "id": "6.2.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.15", "type": "external" }, { "id": "2.3.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.42", "type": "external" }, { "id": "1.3.3.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.3.6", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "1.11.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.6", "type": "external" }, { "id": "3.4.24.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.56", "type": "external" }, { "id": "1.4.3.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.3", "type": "external" }, { "id": "2.6.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.6.1.51", "type": "external" }, { "id": "2.6.1.44", "url": "https://www.rhea-db.org/rhea/?query=ec:2.6.1.44", "type": "external" }, { "id": "2.3.1.176", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.176", "type": "external" }, { "id": "2.3.1.16", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.16", "type": "external" }, { "id": "2.3.1.155", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.155", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "1.14.13.39", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.39", "type": "external" }, { "id": "4.1.3.4", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.3.4", "type": "external" }, { "id": "2.3.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.137", "type": "external" }, { "id": "2.3.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.7", "type": "external" }, { "id": "5.3.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.21", "type": "external" }, { "id": "2.3.1.65", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.65", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "1.5.3.13", "url": "https://www.rhea-db.org/rhea/?query=ec:1.5.3.13", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "1.4.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.1", "type": "external" }, { "id": "1.1.1.184", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.184", "type": "external" }, { "id": "1.3.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.38", "type": "external" }, { "id": "1.3.1.124", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.124", "type": "external" }, { "id": "1.1.3.15", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.3.15", "type": "external" }, { "id": "1.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.5.3.1", "type": "external" }, { "id": "1.5.3.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.5.3.7", "type": "external" }, { "id": "5.1.99.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.1.99.4", "type": "external" }, { "id": "4.1.2.63", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.63", "type": "external" }, { "id": "1.2.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.3.5", "type": "external" }, { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0030976 thiamine pyrophosphate binding;GO:0016830 carbon-carbon lyase activity", "go_cellular_component": "GO:0005777 peroxisome;GO:0005782 peroxisomal matrix;GO:0005829 cytosol", "go_biological_process": "GO:0006631 fatty acid metabolic process;GO:0001561 fatty acid alpha-oxidation;GO:0006625 protein targeting to peroxisome;GO:0097089 methyl-branched fatty acid metabolic process;GO:1903512 phytanic acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 12.6, "record_id": "Q9UJ83-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BT25-1", "uniprot_id": [ { "id": "HAUS8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BT25", "type": "external" } ], "mass": 44857.0, "length": 410, "protein_name": "HAUS augmin-like complex subunit 8", "gene_name": "HAUS8", "organism": "Human", "refseq_name": "HAUS augmin-like complex subunit 8 isoform b", "refseq_ac": [ { "id": "NP_001011699", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001011699", "type": "external" } ], "gene_names_uniprotkb": "HAUS8; HICE1", "gene_names_refseq": "DGT4; HAUS8; HICE1; NY-SAR-48", "protein_names_uniprotkb": "HAUS augmin-like complex subunit 8; HEC1/NDC80-interacting centrosome-associated protein 1; Sarcoma antigen NY-SAR-48", "protein_names_refseq": "HAUS augmin-like complex subunit 8 isoform b; HEC1/NDC80 interacting, centrosome associated 1; HEC1/NDC80-interacting centrosome-associated protein 1; Hec1-interacting and centrosome-associated 1; sarcoma antigen NY-SAR-48", "tax_id": 9606, "disease": "", "pathway": " (hsa:93323); (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": 129, "publication_id_list": "11076968;11237011;11956313;12207013;12221128;12364337;12601173;12852856;13678582;14580337;15498487;15705883;16357211;16462731;16890155;17574030;17646400;17719545;17924679;18037885;18362163;18378770;18477460;18521620;18566290;18615013;18691976;18694559;18801063;19004860;19081074;19369198;19427217;19940019;20230748;20308558;20399632;20558667;21273506;21347367;21422230;21548880;21565611;21620453;21705324;21725307;21792235;22094468;22179047;22365832;22433857;22641346;22653444;23141531;23141541;23253480;23348840;23400999;23530209;23747070;23769972;23789104;23921553;24053599;24089205;24231678;24469809;24715725;24982133;25047611;25313408;25418920;25532896;25576301;25880248;26024233;26154972;26992070;27600516;27920218;28218747;28228285;28649982;28832583;28834231;28904123;29242379;29437277;29493099;29508533;29632711;29916539;30379171;30429286;30484775;30524438;30723163;31530632;31844290;31848261;31998317;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33402344;33537174;33592498;33968037;33981976;34087483;34171305;34405274;34932366;35051231;35318648;35580925;36215666;36284347;7769006;7790358;8838651", "class_list": "", "function": "Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex., [UniProtKB, PubMed, PubMed, PubMed]; HAUS8 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010]., [RefSeq]; Hice1 is a novel microtubule-associated protein important for maintaining spindle integrity and chromosomal stability, in part by virtue of its ability to bind, bundle, and stabilize microtubules., [RefSeq, PubMed]; These results demonstrated that HAUS8 may function as a positive regulator of RLRVISA dependent antiviral signaling by targeting the VISA complex, providing a novel regulatory mechanism of antiviral responses, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B4DJA7;C9JBZ4;Q49AC4;Q86WF0;Q96FX3", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding", "go_cellular_component": "GO:0000922 spindle pole;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0070652 HAUS complex", "go_biological_process": "GO:0010968 regulation of microtubule nucleation;GO:0051301 cell division;GO:0007098 centrosome cycle;GO:0051225 spindle assembly", "synthesized_glycan_count": 0, "hit_score": 13.2, "record_id": "Q9BT25-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q03013-1", "uniprot_id": [ { "id": "GSTM4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q03013", "type": "external" } ], "mass": 25561.0, "length": 218, "protein_name": "Glutathione S-transferase Mu 4", "gene_name": "GSTM4", "organism": "Human", "refseq_name": "glutathione S-transferase Mu 4 isoform 1", "refseq_ac": [ { "id": "NP_000841", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000841", "type": "external" } ], "gene_names_uniprotkb": "GSTM4", "gene_names_refseq": "GSTM4-4; GSTM4; GTM4", "protein_names_uniprotkb": "Glutathione S-transferase Mu 4; 2.5.1.18; 4.4.1.20; GST class-mu 4; GST-Mu2; GSTM4-4; Leukotriene C4 synthase GSTM4", "protein_names_refseq": "GST class-mu 4; GST-Mu2; GTS-Mu2; S-(hydroxyalkyl)glutathione lyase M4; glutathione S-alkyltransferase M4; glutathione S-aralkyltransferase M4; glutathione S-aryltransferase M4; glutathione S-transferase M4; glutathione S-transferase Mu 4 isoform 1; leukotriene C4 synthase GSTM4; testis tissue sperm-binding protein Li 60n", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:2948); (R-HSA-156590); (R-HSA-9026762)", "pathway_count": 3, "publication_count": 78, "publication_id_list": "10329152;10587441;10783391;11237011;11327815;11904223;12042665;12211029;12627223;14742434;16081649;16298388;16548513;16854533;2006920;20083122;20085333;21106529;21668448;22522127;23162467;23481700;25324525;25418920;25645385;25880248;26154972;26375851;26811146;26881986;26929215;27791009;27846572;27920218;28063628;28832583;28834231;28904123;29242379;29393594;29508533;29632046;29786170;30315122;31092671;31844290;32265295;32357974;32387766;32502341;32897882;32938616;32983136;33298915;33717175;3372534;33968037;33981976;34087483;34405274;34509645;34561969;35051231;36010968;3770744;4768551;8182750;8203914;8331657;8349586;8373352;8431482;8471052;8703034;8812420;9278457;9551553;9839448", "class_list": "", "function": "Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles (PubMed:8203914, PubMed:8373352). Catalyzes the conjugation of leukotriene A4 with reduced glutathione (GSH) to form leukotriene C4 (PubMed:27791009). Can also catalyze the transfer of a glutathionyl group from glutathione (GSH) to 13(S),14(S)-epoxy-docosahexaenoic acid to form maresin conjugate in tissue regeneration 1 (MCTR1), a bioactive lipid mediator that possess potent anti-inflammatory and proresolving actions (PubMed:27791009)., [UniProtKB, PubMed, PubMed, PubMed]; Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Diversification of these genes has occurred in regions encoding substrate-binding domains, as well as in tissue expression patterns, to accommodate an increasing number of foreign compounds. Multiple transcript variants, each encoding a distinct protein isoform, have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A8K765;Q05465;Q32NC1;Q4JNT8;Q6FH87", "ec_number_list": [ { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.3.99.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.3", "type": "external" }, { "id": "4.4.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:4.4.1.20", "type": "external" }, { "id": "2.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.-", "type": "external" }, { "id": "5.2.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.2", "type": "external" }, { "id": "5.3.99.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.2", "type": "external" }, { "id": "5.3.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.-", "type": "external" }, { "id": "1.20.4.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.20.4.2", "type": "external" }, { "id": "1.8.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1", "type": "external" } ], "go_molecular_function": "GO:0004364 glutathione transferase activity;GO:0043295 glutathione binding;GO:0004464 leukotriene-C4 synthase activity;GO:0019899 enzyme binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0042178 xenobiotic catabolic process;GO:0042759 long-chain fatty acid biosynthetic process;GO:0006749 glutathione metabolic process;GO:0006629 lipid metabolic process", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q03013-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NYQ3-1", "uniprot_id": [ { "id": "HAOX2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NYQ3", "type": "external" } ], "mass": 38839.0, "length": 351, "protein_name": "2-Hydroxyacid oxidase 2", "gene_name": "HAO2", "organism": "Human", "refseq_name": "2-Hydroxyacid oxidase 2 isoform 2", "refseq_ac": [ { "id": "NP_001005783", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005783", "type": "external" } ], "gene_names_uniprotkb": "HAO2; GIG16; HAOX2", "gene_names_refseq": "GIG16; HAO2; HAOX2", "protein_names_uniprotkb": "2-Hydroxyacid oxidase 2; (S)-2-hydroxy-acid oxidase, peroxisomal; 1.1.3.15; Cell growth-inhibiting gene 16 protein; HAOX2; Long chain alpha-hydroxy acid oxidase; Long-chain L-2-hydroxy acid oxidase", "protein_names_refseq": "(S)-2-hydroxy-acid oxidase, peroxisomal; 2-Hydroxyacid oxidase 2 isoform 2; 2-Hydroxyacid oxidase 2; cell growth-inhibiting gene 16 protein; glycolate oxidase; hydroxyacid oxidase 2 (long chain); long chain alpha-hydroxy acid oxidase; long-chain L-2-hydroxy acid oxidase", "tax_id": 9606, "disease": "", "pathway": " (hsa:51179); (R-HSA-390918); (R-HSA-9033241)", "pathway_count": 3, "publication_count": 72, "publication_id_list": "10022913;10562279;10673331;10777549;11101887;11237011;11415433;11546814;11781871;11931631;12456682;12559034;12578380;12717447;12885776;15545321;15858711;16185196;16854980;17007944;17726030;18359941;18712838;18799520;19197237;19208625;19584060;19632994;20178365;21554508;21976670;21980954;22002062;22057399;22371489;22747494;23963456;24235149;24275569;24535825;24865970;24905344;25016021;25538232;25854684;26086376;26138649;26220973;26344566;27597759;28521612;28611990;28765278;28787099;29557506;31127626;31971830;32157095;35528616;35580925;7719337;7790377;8824437;8858165;8991089;9090381;9090382;9090383;9539740;9653144;9668159;9837948", "class_list": "", "function": "Hydroxyacid Oxidase 2 (HAO2) Inhibits the Tumorigenicity of Hepatocellular Carcinoma and Is Negatively Regulated by miR-615-5p. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-1293 Suppresses Tumor Malignancy by Targeting Hydrocyanic Oxidase 2: Therapeutic Potential of a miR-1293/Hydrocyanic Oxidase 2 Axis in Renal Cell Carcinoma., [RefSeq, PubMed]; Overexpression of HAO2 by plasmid promoted lipid catabolic process, eliminated lipid accumulation, inhibited KRAS expression, controlled the proliferation, migration, and invasion activity of clear cell renal cell carcinoma (ccRCC) tumor cells, [RefSeq, PubMed]; Oxidase that catalyzes the oxidation of medium and long chain hydroxyacids such as 2-hydroxyhexadecanoate and 2-hydroxyoctanoate, to the corresponding 2-oxoacids (PubMed:10777549). Its role in the oxidation of 2-hydroxy fatty acids may contribute to the general pathway of fatty acid alpha-oxidation (Probable). Active in vitro with the artificial electron acceptor 2,6-dichlorophenolindophenol (DCIP), but O2 is believed to be the physiological electron acceptor, leading to the production of H2O2. Is not active on glycolate, glyoxylate, L-lactate and 2-hydroxybutanoate (PubMed:10777549)., [UniProtKB, PubMed]; This gene is one of three related genes that have 2-hydroxyacid oxidase activity. The encoded protein localizes to the peroxisome has the highest activity toward the substrate 2-hydroxypalmitate. 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q2TU86;Q5QP00;Q9UJS6", "ec_number_list": [ { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.1.77", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.77", "type": "external" }, { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "3.1.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.27", "type": "external" }, { "id": "3.1.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.1", "type": "external" }, { "id": "3.1.2.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.11", "type": "external" }, { "id": "3.1.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.3", "type": "external" }, { "id": "3.1.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.5", "type": "external" }, { "id": "6.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.3", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "6.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.7", "type": "external" }, { "id": "6.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.24", "type": "external" }, { "id": "6.2.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.15", "type": "external" }, { "id": "2.3.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.42", "type": "external" }, { "id": "1.3.3.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.3.6", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "1.11.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.6", "type": "external" }, { "id": "3.4.24.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.56", "type": "external" }, { "id": "1.4.3.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.3", "type": "external" }, { "id": "2.6.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.6.1.51", "type": "external" }, { "id": "2.6.1.44", "url": "https://www.rhea-db.org/rhea/?query=ec:2.6.1.44", "type": "external" }, { "id": "2.3.1.176", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.176", "type": "external" }, { "id": "2.3.1.16", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.16", "type": "external" }, { "id": "2.3.1.155", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.155", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "1.14.13.39", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.39", "type": "external" }, { "id": "4.1.3.4", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.3.4", "type": "external" }, { "id": "2.3.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.137", "type": "external" }, { "id": "2.3.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.7", "type": "external" }, { "id": "5.3.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.21", "type": "external" }, { "id": "2.3.1.65", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.65", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "1.5.3.13", "url": "https://www.rhea-db.org/rhea/?query=ec:1.5.3.13", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "1.4.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.1", "type": "external" }, { "id": "1.1.1.184", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.184", "type": "external" }, { "id": "1.3.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.38", "type": "external" }, { "id": "1.3.1.124", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.124", "type": "external" }, { "id": "1.1.3.15", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.3.15", "type": "external" }, { "id": "1.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.5.3.1", "type": "external" }, { "id": "1.5.3.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.5.3.7", "type": "external" }, { "id": "5.1.99.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.1.99.4", "type": "external" }, { "id": "4.1.2.63", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.63", "type": "external" }, { "id": "1.2.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.3.5", "type": "external" }, { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" } ], "go_molecular_function": "GO:0010181 FMN binding;GO:0003973 (S)-2-hydroxy-acid oxidase activity;GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005782 peroxisomal matrix;GO:0005829 cytosol", "go_biological_process": "GO:0019395 fatty acid oxidation", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q9NYQ3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NSI2-1", "uniprot_id": [ { "id": "SLX9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NSI2", "type": "external" } ], "mass": 25456.0, "length": 230, "protein_name": "Ribosome biogenesis protein SLX9 homolog", "gene_name": "SLX9", "organism": "Human", "refseq_name": "ribosome biogenesis protein SLX9 homolog isoform 2", "refseq_ac": [ { "id": "NP_001303912", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303912", "type": "external" } ], "gene_names_uniprotkb": "SLX9; C21orf70; FAM207A; PRED56", "gene_names_refseq": "C21orf70; FAM207A; PRED56; SLX9", "protein_names_uniprotkb": "Ribosome biogenesis protein SLX9 homolog", "protein_names_refseq": "family with sequence similarity 207 member A; protein FAM207A; ribosome biogenesis protein SLX9 homolog isoform 2; ribosome biogenesis protein SLX9 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:85395)", "pathway_count": 1, "publication_count": 51, "publication_id_list": "11237011;11707072;16964243;18669648;18691976;19413330;19691289;20068231;21097556;22028470;23186163;23481700;24366607;24714562;24715725;25418920;26154972;26728094;26811146;26929215;28228285;28832583;28904123;29242379;29393594;29493099;29557506;31217245;31530632;31611695;31844290;31848261;32157095;32161166;32265295;32350084;32938616;33298915;33592498;33691108;33912179;33968037;34561969;34932366;35251023;35254053;35580925;36010968;36241641;36284347;40596516", "class_list": "", "function": "FAM207A/C21orf70 is a putative trans-acting factor involved in biogenesis of the 40S ribosomal subunit., [RefSeq, PubMed]; May be involved in ribosome biogenesis., [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": 3, "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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005730 nucleolus;GO:0030688 preribosome, small subunit precursor;GO:0030686 90S preribosome", "go_biological_process": "GO:0000462 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q9NSI2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P32298-1", "uniprot_id": [ { "id": "GRK4_HUMAN", "url": "https://www.uniprot.org/uniprot/P32298", "type": "external" } ], "mass": 66583.0, "length": 578, "protein_name": "G protein-coupled receptor kinase 4", "gene_name": "GRK4", "organism": "Human", "refseq_name": "G protein-coupled receptor kinase 4 isoform beta", "refseq_ac": [ { "id": "NP_001004056", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004056", "type": "external" } ], "gene_names_uniprotkb": "GRK4; GPRK2L; GPRK4", "gene_names_refseq": "GPRK2L; GPRK4; GRK4a; GRK4; IT11", "protein_names_uniprotkb": "G protein-coupled receptor kinase 4; 2.7.11.16; G protein-coupled receptor kinase GRK4; ITI1", "protein_names_refseq": "G protein-coupled receptor kinase 2-like; G protein-coupled receptor kinase 4 isoform beta", "tax_id": 9606, "disease": "essential hypertension (Disease Ontology:DOID:10825); alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:2868)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "11237011;1338872;16636192;17344846;19520868;22223895;25645385;26134571;26375851;27920218;28832583;29242379;29393594;29557506;31844290;32387766;33899625;34297769;35051231;35487286;36669643;8135832;8626439;9092566", "class_list": "", "function": "Comprehensive insights in GRK4 and hypertension: From mechanisms to potential therapeutics. Review article, [RefSeq, PubMed]; Downregulation of G protein-coupled receptor kinase 4 protects against kidney ischemia-reperfusion injury., [RefSeq, PubMed]; Genetic variants of GRK4 influence circadian rhythm of blood pressure and response to candesartan in hypertensive patients., [RefSeq, PubMed]; Specifically phosphorylates the activated forms of G protein-coupled receptors. GRK4-alpha can phosphorylate rhodopsin and its activity is inhibited by calmodulin; the other three isoforms do not phosphorylate rhodopsin and do not interact with calmodulin. GRK4-alpha and GRK4-gamma phosphorylate DRD3. Phosphorylates ADRB2., [UniProtKB, PubMed, PubMed]; Targeted capture sequencing identifies genetic variations of GRK4 and RDH8 in Han Chinese with essential hypertension in Xinjiang. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates the activated forms of G protein-coupled receptors thus initiating its deactivation. This gene has been linked to both genetic and acquired hypertension. 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "O00641;O00642;Q13293;Q13294;Q13295;Q14453;Q14725;Q15313;Q15314;Q15315;Q15316;Q17RH6;Q53EQ8", "ec_number_list": [ { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.15", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.15", "type": "external" }, { "id": "2.7.11.16", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.16", "type": "external" } ], "go_molecular_function": "GO:0004672 protein kinase activity;GO:0005524 ATP binding;GO:0050254 rhodopsin kinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005938 cell cortex;GO:0097381 photoreceptor disc membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0031623 receptor internalization;GO:0009966 regulation of signal transduction;GO:0022400 regulation of opsin-mediated signaling pathway;GO:0008277 regulation of G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "P32298-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12794-1", "uniprot_id": [ { "id": "HYAL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12794", "type": "external" } ], "mass": 48368.0, "length": 435, "protein_name": "Hyaluronidase-1", "gene_name": "HYAL1", "organism": "Human", "refseq_name": "hyaluronidase-1 isoform 1 precursor", "refseq_ac": [ { "id": "NP_149349", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149349", "type": "external" } ], "gene_names_uniprotkb": "HYAL1; LUCA1", "gene_names_refseq": "HYAL-1; HYAL1; LUCA1; MPS9; NAT6", "protein_names_uniprotkb": "Hyaluronidase-1; 3.2.1.35; Hyal-1; Hyaluronoglucosaminidase-1; LuCa-1; Lung carcinoma protein 1", "protein_names_refseq": "hyaluronidase-1 isoform 1 precursor; hyaluronoglucosaminidase 1; luCa-1; lung carcinoma protein 1; plasma hyaluronidase; tumor suppressor LUCA-1", "tax_id": 9606, "disease": "mucopolysaccharidosis IX (Disease Ontology:DOID:0050809); mucopolysaccharidosis (Disease Ontology:DOID:12798); pulmonary hypertension (Disease Ontology:DOID:6432)", "pathway": " (hsa:3373); (R-HSA-2024101); (R-HSA-2160916); (R-HSA-2206280); (R-HSA-9953097)", "pathway_count": 5, "publication_count": 55, "publication_id_list": "10339581;10702795;11237011;11350981;11568288;12084718;12888274;14514708;15035633;15090545;15503855;15510212;15647514;16104017;17050540;17503783;1907800;19201751;19224584;1928092;1946389;19889881;2122463;21559944;23509262;25009769;27862975;29557506;2971395;30379171;30429286;31154438;3134052;31848261;32157095;33942374;3468507;35051231;35164755;35580925;37074911;38382806;38844132;39121049;5822067;738706;7628016;8213840;8282124;8603390;8793927;8901634;9223416;9521684;9712871", "class_list": "glycogene;glycosylhydrolase", "function": "A nonsynonymous polymorphism (rs117179004, T392M) of hyaluronidase 1 (HYAL1) is associated with increased risk of idiopathic pulmonary fibrosis in Southern Han Chinese., [RefSeq, PubMed]; Epidermal keratinocytes regulate hyaluronan metabolism via extracellularly secreted hyaluronidase 1 and hyaluronan synthase 3., [RefSeq, PubMed]; Hyaluronidase-1-mediated glycocalyx impairment underlies endothelial abnormalities in polypoidal choroidal vasculopathy. Publication Status: Online-Only, [RefSeq, PubMed]; May have a role in promoting tumor progression. May block the TGFB1-enhanced cell growth., [UniProtKB, PubMed]; Substitution of acidic residues near the catalytic Glu131 leads to human HYAL1 activity at neutral pH via charge-charge interactions. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a lysosomal hyaluronidase. Hyaluronidases intracellularly degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan is thought to be involved in cell proliferation, migration and differentiation. This enzyme is active at an acidic pH and is the major hyaluronidase in plasma. Mutations in this gene are associated with mucopolysaccharidosis type IX, or hyaluronidase deficiency. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Tumor-derived exosomal hyaluronidase 1 induced M2 macrophage polarization and promoted esophageal 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": 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": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 572, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 3, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q6FH23;Q6PIZ6;Q7KYU2;Q7LE34;Q8NFK5;Q8NFK6;Q8NFK7;Q8NFK8;Q8NFK9;Q93013;Q9UKD5;Q9UNI8", "ec_number_list": [ { "id": "3.2.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.35", "type": "external" } ], "go_molecular_function": "GO:0004415 hyalurononglucosaminidase activity;GO:0052757 chondroitin hydrolase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0070062 extracellular exosome;GO:0005764 lysosome;GO:0031410 cytoplasmic vesicle;GO:0043202 lysosomal lumen", "go_biological_process": "GO:0071493 cellular response to UV-B;GO:0006954 inflammatory response;GO:0030307 positive regulation of cell growth;GO:0045785 positive regulation of cell adhesion;GO:0005975 carbohydrate metabolic process", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q12794-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100100000000.110.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01814-1", "uniprot_id": [ { "id": "HV270_HUMAN", "url": "https://www.uniprot.org/uniprot/P01814", "type": "external" } ], "mass": 13260.0, "length": 119, "protein_name": "Immunoglobulin heavy variable 2-70", "gene_name": "IGHV2-70", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGHV2-70", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin heavy variable 2-70; Ig heavy chain V-II region COR; Ig heavy chain V-II region DAW; Ig heavy chain V-II region OU; Ig heavy chain V-II region SESS", "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": 536, "publication_id_list": 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"class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin heavy 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": 682, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A0B4J2H3;P01815;P01816;P04438", "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:0016064 immunoglobulin mediated immune response;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 53.7, "record_id": "P01814-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00001", "kg_view_protein": true }, { "uniprot_canonical_ac": "P25021-1", "uniprot_id": [ { "id": "HRH2_HUMAN", "url": "https://www.uniprot.org/uniprot/P25021", "type": "external" } ], "mass": 40098.0, "length": 359, "protein_name": "Histamine H2 receptor", "gene_name": "HRH2", "organism": "Human", "refseq_name": "histamine H2 receptor isoform 1", "refseq_ac": [ { "id": "NP_001124527", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124527", "type": "external" } ], "gene_names_uniprotkb": "HRH2", "gene_names_refseq": "H2R; HH2R; HRH2", "protein_names_uniprotkb": "Histamine H2 receptor; Gastric receptor I; H2R; HH2R", "protein_names_refseq": "gastric receptor 1; gastric receptor I; histamine H2 receptor isoform 1", "tax_id": 9606, "disease": "transient cerebral ischemia (Disease Ontology:DOID:224)", "pathway": " (hsa:3274); (R-HSA-390650); (R-HSA-418555)", "pathway_count": 3, "publication_count": 81, "publication_id_list": "10347254;10371214;10633171;11007482;11118334;11237011;12036966;12058044;12069903;12106601;12180353;12860470;13549488;14671004;15014171;1517224;15765929;15769620;15951850;16313925;16687412;16923326;17005916;1714721;17168849;18044684;18157166;18577758;19054851;19105585;19876791;19929708;20381629;21036126;21036230;2155607;2163110;23481700;2417744;24687066;2491850;2553411;2553705;26417854;27726376;2871555;29443750;29602314;30484775;30833991;3127824;31279028;31399091;31983287;32157095;32226383;32488085;32497535;32540603;32618402;32715661;33049737;35051231;35776777;37470818;38418462;38647423;39333117;4401751;6085243;6120235;7755641;8280179;8340388;8514797;8672451;8817552;9263355;9374694;9417641;9651336", "class_list": "", "function": "Cryo-EM structure of cell-free synthesized human histamine 2 receptor/Gs complex in nanodisc environment. Publication Status: Online-Only, [RefSeq, PubMed]; G protein-coupled receptor for histamine, primarily mediating gastric acid secretion. Predominantly expressed in the gastric mucosa, couples to G(s) G alpha proteins upon histamine binding, leading to activation of adenylate cyclase and increased intracellular cyclic AMP (cAMP) levels (PubMed:38647423, PubMed:39333117). This signaling cascade stimulates parietal cells to secrete hydrochloric acid, playing a key role in digestive physiology. Also expressed in other tissues, including the heart and central nervous system, where it may contribute to cardiac stimulation and modulate neurotransmitter release (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; G-protein coupled receptor for histamine, primarily mediating gastric acid secretion. Predominantly expressed in the gastric mucosa, couples to G(s) G alpha proteins upon histamine binding, leading to activation of adenylate cyclase and increased intracellular cyclic AMP (cAMP) levels. This signaling cascade stimulates parietal cells to secrete hydrochloric acid, playing a key role in digestive physiology. Also expressed in other tissues, including the heart and central nervous system, where it may contribute to cardiac stimulation and modulate neurotransmitter release., [UniProtKB, UniProtKB, UniProtKB]; Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by histamine receptors H1, H2, H3 and H4. Histamine receptor H2 belongs to the family 1 of G protein-coupled receptors. It is an integral membrane protein and stimulates gastric acid secretion. It also regulates gastrointestinal motility and intestinal secretion and is thought to be involved in regulating cell growth and differentiation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]., [RefSeq]; Nuclear localization of histamine receptor 2 in primary human lymphatic endothelial cells., [RefSeq, PubMed]; The mRNA expression and secretion of granzyme B are up-regulated via the histamine H2 receptor in human CD4[+] T cells., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "B5BUP7;Q14464;Q7Z5R9", "ec_number_list": [], "go_molecular_function": "GO:0030594 neurotransmitter receptor activity;GO:0004969 histamine receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030425 dendrite;GO:0045202 synapse", "go_biological_process": "GO:0006955 immune response;GO:0007189 adenylate cyclase-activating 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:0045907 positive regulation of vasoconstriction", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "P25021-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UKL0-1", "uniprot_id": [ { "id": "RCOR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UKL0", "type": "external" } ], "mass": 53327.0, "length": 485, "protein_name": "REST corepressor 1", "gene_name": "RCOR1", "organism": "Human", "refseq_name": "REST corepressor 1", "refseq_ac": [ { "id": "NP_055971", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055971", "type": "external" } ], "gene_names_uniprotkb": "RCOR1; KIAA0071; RCOR", "gene_names_refseq": "COREST; RCOR1; RCOR", "protein_names_uniprotkb": "REST corepressor 1; Protein CoREST", "protein_names_refseq": "REST corepressor 1", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652)", "pathway": " (hsa:23186); (R-HSA-3214815); (R-HSA-8943724); (R-HSA-9679191); (R-HSA-983231)", "pathway_count": 5, "publication_count": 174, "publication_id_list": "10087012;10444591;10449787;10734093;10748112;10904264;10922406;10926844;11042108;11062261;11102443;11171972;11237011;11242053;11378386;11509652;11516394;11545734;11739383;11742974;11744692;11751636;11781575;11895428;11909966;11950885;11959846;12032298;12134158;12192000;12399542;12427746;12493763;12724404;15020713;15247287;15710388;15897453;16054028;16079794;16115318;16140033;1630448;16418168;16522641;16676006;16702404;16885027;17027967;17081983;17196961;17211407;17662961;17873065;17974977;18172008;18391013;18487508;18669648;18991276;19293402;19440552;19690332;19884659;20068231;20223979;20233713;20516213;20530532;20627800;21289308;21406692;21587264;218813;22128185;22401777;22552008;22814904;23186163;23287862;23301498;23481700;23641311;24272870;24584101;24715725;24718924;25418920;25576301;25728608;25801024;26002965;26101246;26154972;26845023;26910647;26992070;27543614;27600516;27846572;27862975;28063628;28228285;28425720;28510447;28832583;28834231;28904123;29242379;29331515;29393594;29493099;29508533;29557506;29786170;29945920;30201761;30429286;30524438;30779550;30833945;31048504;31154438;31217245;31844290;31848261;31937595;32157095;32161166;32387766;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33465208;33592498;33717175;33936100;33968037;33981976;34019948;34087483;3409321;34171305;34185709;34405274;34509645;34932366;35051231;35561310;35580925;36010968;36241641;36284347;36997086;37878419;37938771;40596516;40914422;7513682;8662638;8816476;9065479;9150135;9230307;9326583;9331217;9422515;9651585;9790534;9927674", "class_list": "", "function": "Essential component of the BHC complex, a corepressor complex that represses transcription of neuron-specific genes in non-neuronal cells. The BHC complex is recruited at RE1/NRSE sites by REST and acts by deacetylating and demethylating specific sites on histones, thereby acting as a chromatin modifier. In the BHC complex, it serves as a molecular beacon for the recruitment of molecular machinery, including MeCP2 and SUV39H1, that imposes silencing across a chromosomal interval. Plays a central role in demethylation of Lys-4 of histone H3 by promoting demethylase activity of KDM1A on core histones and nucleosomal substrates. It also protects KDM1A from the proteasome. Component of a RCOR/GFI/KDM1A/HDAC complex that suppresses, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development and controls hematopoietic differentiation., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; GSE1 links the HDAC1/CoREST co-repressor complex to DNA damage., [RefSeq, PubMed]; This gene encodes a protein that is well-conserved, downregulated at birth, and with a specific role in determining neural cell differentiation. The encoded protein binds to the C-terminal domain of REST (repressor element-1 silencing transcription factor). [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": 3, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 11, "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": "J3KN32;Q15044;Q6P2I9;Q86VG5", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0019899 enzyme binding;GO:0003714 transcription corepressor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0017053 transcription repressor complex;GO:0005667 transcription regulator complex;GO:0035097 histone methyltransferase complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0010629 negative regulation of gene expression;GO:0045892 negative regulation of DNA-templated transcription;GO:0030218 erythrocyte differentiation", "synthesized_glycan_count": 0, "hit_score": 17.8, "record_id": "Q9UKL0-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NVK5-1", "uniprot_id": [ { "id": "FGOP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NVK5", "type": "external" } ], "mass": 29426.0, "length": 253, "protein_name": "FGFR1 oncogene partner 2", "gene_name": "FGFR1OP2", "organism": "Human", "refseq_name": "FGFR1 oncogene partner 2 isoform 2", "refseq_ac": [ { "id": "NP_001165358", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165358", "type": "external" } ], "gene_names_uniprotkb": "FGFR1OP2; HSPC123", "gene_names_refseq": "FGFR1OP2; HSPC123-like; WIT3.0", "protein_names_uniprotkb": "FGFR1 oncogene partner 2", "protein_names_refseq": "FGFR1 oncogene partner 2 isoform 2; fibroblast growth factor receptor 1 oncogene partner 2; wound inducible transcript 3.0", "tax_id": 9606, "disease": "", "pathway": " (hsa:26127); (R-HSA-1839117); (R-HSA-5655302)", "pathway_count": 3, "publication_count": 117, "publication_id_list": "10480903;10579907;10652257;10688839;10887137;10918587;10935490;11157491;11237011;11429702;11689702;11739186;12124177;12393597;14534538;14660670;15034873;15050920;15448205;15609342;15800673;16091734;16844695;16946300;17389761;17505008;17533378;17698633;18205209;18337450;18373495;18381441;18412956;18552176;18757403;19103595;19147536;19369959;19381019;19749790;19809159;19874848;19946327;19959814;20094046;20179196;20226962;20709759;21160078;21283824;21330321;21666749;21711248;22880093;23186163;23481700;24714562;25576301;25645385;26154972;26375851;26992070;27600516;27862975;27920218;28411811;28514659;28832583;28834231;29242379;29393594;29493099;29557506;29632711;29786170;30315122;30429286;30524438;31154438;31222486;31530632;31844290;31848261;31937595;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33717175;33912179;33936100;33968037;34087483;34171305;34509645;34932366;35051231;35580925;36010968;36215666;36241641;37938771;9425908;9576949;9716603;9857065;9949182", "class_list": "", "function": "FGFR1OP2 is a new FGFR1 fusion gene involving a chromosomes 12X8 translocation in a 8p11 myeloproliferative syndrome patient., [RefSeq, PubMed]; FGFR1OP2/wit3.0 may regulate cell motility and stimulate wound closure., [RefSeq, PubMed]; May be involved in wound healing pathway., [UniProtKB]; Patients with the minor allele of rs840869 or rs859024 of FGFR1OP2 were associated with excessive atrophy of edentulous mandible Publication Status: Online-Only, [RefSeq, PubMed]; The patient with minor allele of ss518063493 may be associated with excessive atrophy of edentulous mandible whereas the patients with that of rs840869 are not associated in Korean population., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6R955;Q8N5L7;Q9P034;Q9UFK8", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005737 cytoplasm", "go_biological_process": "GO:0009611 response to wounding", "synthesized_glycan_count": 0, "hit_score": 12.0, "record_id": "Q9NVK5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UL19-1", "uniprot_id": [ { "id": "PLAT4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UL19", "type": "external" } ], "mass": 18179.0, "length": 164, "protein_name": "Phospholipase A and acyltransferase 4", "gene_name": "PLAAT4", "organism": "Human", "refseq_name": "phospholipase A and acyltransferase 4", "refseq_ac": [ { "id": "NP_004576", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004576", "type": "external" } ], "gene_names_uniprotkb": "PLAAT4; RARRES3; RIG1; TIG3", "gene_names_refseq": "HRASLS4; HRSL4; PLA1/2-3; PLAAT-4; PLAAT4; RARRES3; RIG1; TIG3", "protein_names_uniprotkb": "Phospholipase A and acyltransferase 4; 2.3.1.-; 3.1.1.32; 3.1.1.4; HRAS-like suppressor 4; HRSL4; RAR-responsive protein TIG3; Retinoic acid receptor responder protein 3; Retinoid-inducible gene 1 protein; Tazarotene-induced gene 3 protein", "protein_names_refseq": "HRAS-like suppressor 4; RAR-responsive protein TIG3; phospholipase A and acyltransferase 4; phospholipase A/acyltransferase-4; retinoic acid receptor responder (tazarotene induced) 3; retinoic acid receptor responder 3; retinoic acid receptor responder protein 3; retinoic acid-inducible gene 1; retinoid-inducible gene 1 protein; tazarotene-induced gene 3 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:5920); (R-HSA-1482839)", "pathway_count": 2, "publication_count": 72, "publication_id_list": "10092647;10336645;10455175;10681567;10687848;11031251;11112443;11830583;12161451;12359733;12522102;12879006;15695510;15863501;15944408;16617059;16818490;17762858;18195019;18287005;18458083;18614531;18772128;18781350;19019078;19351971;19501189;19615464;20705608;22605381;22825852;25576301;26154972;26503625;26992070;28228285;28649982;28832583;28834231;28904123;29242379;2925608;2925633;29331515;29557506;29786170;29789417;30315122;30779550;30833945;31154438;31217245;31530632;31844290;32357974;32502341;32938616;32983136;33717175;33912179;33968037;34087483;34871166;35051231;35561310;35580925;36284347;7060561;8300559;9188469;9417066;9843971", "class_list": "", "function": "Exhibits both phospholipase A1/2 and acyltransferase activities (PubMed:19615464, PubMed:22605381, PubMed:22825852, PubMed:26503625). Shows phospholipase A1 (PLA1) and A2 (PLA2), catalyzing the calcium-independent release of fatty acids from the sn-1 or sn-2 position of glycerophospholipids (PubMed:19615464, PubMed:22605381, PubMed:22825852). For most substrates, PLA1 activity is much higher than PLA2 activity (PubMed:19615464). Shows O-acyltransferase activity, catalyzing the transfer of a fatty acyl group from glycerophospholipid to the hydroxyl group of lysophospholipid (PubMed:19615464). Shows N-acyltransferase activity, catalyzing the calcium-independent transfer of a fatty acyl group at the sn-1 position of phosphatidylcholine (PC) and other glycerophospholipids to the primary amine of phosphatidylethanolamine (PE), forming N-acylphosphatidylethanolamine (NAPE), which serves as precursor for N-acylethanolamines (NAEs) (PubMed:19615464, PubMed:22605381, PubMed:22825852)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Induction of TIG3 is associated with the suppression of anchorage-independent growth in certain aerodigestive tract cancer cells, [RefSeq, PubMed]; Overexpression screen of interferon-stimulated genes identifies RARRES3 as a restrictor of Toxoplasma gondii infection. Publication Status: Online-Only, [RefSeq, PubMed]; Retinoids exert biologic effects such as potent growth inhibitory and cell differentiation activities and are used in the treatment of hyperproliferative dermatological diseases. These effects are mediated by specific nuclear receptor proteins that are members of the steroid and thyroid hormone receptor superfamily of transcriptional regulators. RARRES1, RARRES2, and RARRES3 are genes whose expression is upregulated by the synthetic retinoid tazarotene. RARRES3 is thought act as a tumor suppressor or growth regulator. [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": 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": "B2R599;B4DDW2;E7ENZ7;O95200", "ec_number_list": [ { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "3.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.5", "type": "external" }, { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" }, { "id": "3.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.32", "type": "external" }, { "id": "3.1.1.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.34", "type": "external" }, { "id": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.1.1.111", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.111", "type": "external" }, { "id": "3.1.1.118", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.118", "type": "external" }, { "id": "2.3.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.51", "type": "external" } ], "go_molecular_function": "GO:0004623 phospholipase A2 activity;GO:0008970 phospholipase A1 activity;GO:0016746 acyltransferase activity;GO:0016410 N-acyltransferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0008285 negative regulation of cell population proliferation;GO:0016042 lipid catabolic process;GO:0036152 phosphatidylethanolamine acyl-chain remodeling;GO:0006644 phospholipid metabolic process;GO:0070292 N-acylphosphatidylethanolamine metabolic process", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q9UL19-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NG08-1", "uniprot_id": [ { "id": "HELB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NG08", "type": "external" } ], "mass": 123252.0, "length": 1087, "protein_name": "DNA helicase B", "gene_name": "HELB", "organism": "Human", "refseq_name": "DNA helicase B", "refseq_ac": [ { "id": "NP_387467", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_387467", "type": "external" } ], "gene_names_uniprotkb": "HELB", "gene_names_refseq": "DHB; HELB; hDHB", "protein_names_uniprotkb": "DNA helicase B; 5.6.2.3; DNA 5'-3' helicase B; hDHB", "protein_names_refseq": "DNA helicase B; helicase (DNA) B", "tax_id": 9606, "disease": "", "pathway": " (hsa:92797)", "pathway_count": 1, "publication_count": 47, "publication_id_list": "11237011;12181327;15146062;17525332;19413330;19664995;19690332;22194613;23186163;23481700;25505266;25576301;25617833;25880248;25933514;26774285;27846572;27920218;28031159;28218747;28228285;28514659;28832583;28904123;29242379;29393594;29437277;29557506;30315122;31217245;31530632;31844290;32157095;32387766;32455610;32478505;32938616;33141586;33298915;33912179;33968037;34171305;34509645;35051231;35385349;36010968;36241641", "class_list": "", "function": "5'-3' DNA helicase involved in DNA damage response by acting as an inhibitor of DNA end resection (PubMed:25617833, PubMed:26774285). Recruitment to single-stranded DNA (ssDNA) following DNA damage leads to inhibit the nucleases catalyzing resection, such as EXO1, BLM and DNA2, possibly via the 5'-3' ssDNA translocase activity of HELB (PubMed:26774285). As cells approach S phase, DNA end resection is promoted by the nuclear export of HELB following phosphorylation (PubMed:26774285). Acts independently of TP53BP1 (PubMed:26774285). Unwinds duplex DNA with 5'-3' polarity. Has single-strand DNA-dependent ATPase and DNA helicase activities. Prefers ATP and dATP as substrates (PubMed:12181327). During S phase, may facilitate cellular recovery from replication stress (PubMed:22194613)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; 5'-3' DNA helicase involved in DNA damage response by acting as an inhibitor of DNA end resection. Recruitment to single-stranded DNA (ssDNA) following DNA damage leads to inhibit the nucleases catalyzing resection, such as EXO1, BLM and DNA2, possibly via the 5'-3' ssDNA translocase activity of HELB. As cells approach S phase, DNA end resection is promoted by the nuclear export of HELB following phosphorylation. Acts independently of TP53BP1. Unwinds duplex DNA with 5'-3' polarity. Has single-strand DNA-dependent ATPase and DNA helicase activities. Prefers ATP and dATP as substrates. During S phase, may facilitate cellular recovery from replication stress., [UniProtKB, UniProtKB]; Conclude that mammalian DNA end resection triggers its own inhibition via the recruitment of HELB., [RefSeq, PubMed]; Genome Maintenance by DNA Helicase B. Review article Publication Status: Online-Only, [RefSeq, PubMed]; HDHB promotes homologous recombination in vivo and stimulates 5'-3' heteroduplex extension during Rad51-mediated strand exchange in vitro Erratum:[PLoS One. 2018 Oct 10;13(10):e0205766. doi: 10.1371/journal.pone.0205766. PMID: 30304027] Publication Status: Online-Only, [RefSeq, PubMed]; Human HELB is a processive motor protein that catalyzes RPA clearance from single-stranded DNA., [RefSeq, PubMed]; Replication stress-induced recruitment of HDHB to chromatin is independent of checkpoint signaling but correlates with the level of replication protein A (RPA) recruited to chromatin., [RefSeq, PubMed]; Role of dominant-negative mutant in blocking onset of chromosomal DNA replication, [RefSeq, PubMed]; The Expression of Human DNA Helicase B Is Affected by G-Quadruplexes in the Promoter., [RefSeq, PubMed]; The depletion of HDHB from human cells diminishes Cdc45 association with chromatin, suggesting that HDHB may facilitate Cdc45 recruitment at G1/S in human cells., [RefSeq, PubMed]; This gene encodes a DNA-dependent ATPase which catalyzes the unwinding of DNA necessary for DNA replication, repair, recombination, and transcription. This gene is thought to function specifically during the S phase entry of the cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 12, "reported_glycation": 0, "reported_snv": 28, "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": "A8K4C9;Q4G0T2;Q9H7L5", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0044877 protein-containing complex binding;GO:0043139 5'-3' DNA helicase activity;GO:0017116 single-stranded DNA helicase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016604 nuclear body", "go_biological_process": "GO:2000042 negative regulation of double-strand break repair via homologous recombination;GO:0006281 DNA repair;GO:0006260 DNA replication;GO:0006974 DNA damage response;GO:0006269 DNA replication, synthesis of primer", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q8NG08-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92496-1", "uniprot_id": [ { "id": "FHR4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92496", "type": "external" } ], "mass": 65351.0, "length": 578, "protein_name": "Complement factor H-related protein 4", "gene_name": "CFHR4", "organism": "Human", "refseq_name": "complement factor H-related protein 4 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001188479", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001188479", "type": "external" } ], "gene_names_uniprotkb": "CFHR4; CFHL4; FHR4", "gene_names_refseq": "CFHL4; CFHR4; FHR-4; FHR4", "protein_names_uniprotkb": "Complement factor H-related protein 4; FHR-4", "protein_names_refseq": "complement factor H-related protein 4 isoform 1 precursor; complement factor H-related protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:10877); (R-HSA-977606)", "pathway_count": 2, "publication_count": 60, "publication_id_list": "10531307;1067618;11694537;11939578;12055245;1386357;15562282;16079145;16192651;16999828;17182573;17505110;21788512;22802338;23090970;23487775;2420889;2465906;2466593;2481448;293688;293746;29391424;29398083;2956252;2971659;301546;32034129;32157095;35051231;35812416;36793547;37074911;38200010;3848661;4098172;6214588;6219696;6222381;6230668;6238120;6334079;6454142;6607952;670886;6906228;702059;7391570;7542572;760802;761607;7690834;7691959;8345200;8495193;8786315;9038172;9038722;9476126;978134", "class_list": "", "function": "CFH and CFHR structural variants in atypical Hemolytic Uremic Syndrome: Prevalence, genomic characterization and impact on outcome. Publication Status: Online-Only, [RefSeq, PubMed]; FHR-4 as a key molecular player contributing to complement dysregulation in the age-related macular degeneration.FHR-4 is expressed in the liver but not in the eye. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of CFHR4 as a Potential Prognosis Biomarker Associated With lmmune Infiltrates in Hepatocellular Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in complement regulation. Can associate with lipoproteins and may play a role in lipid metabolism., [UniProtKB]; Levels of complement factor H-related 4 protein do not influence susceptibility to age-related macular degeneration or its course of progression. Publication Status: Online-Only, [RefSeq, PubMed]; The SNP rs3753396 in CFH and SNP rs6685931 in CFHR4 are associated with systemic complement activation levels. The SNP rs6685931 in CFHR4 and its linked haplotype H1-2 also conferred a risk for age-related macular degeneration (AMD) development, and therefore could be used to identify AMD patients who would benefit most from complement-inhibiting therapies., [RefSeq, PubMed]; This gene is a member of the complement factor H (CFH) gene family, and encodes one of the 5 CFH-related (CFHR) proteins. These 5 genes are closely linked to the CFH gene on chromosome 1q31-q32. The CFHRs are secreted plasma proteins synthesized primarily by the hepatocytes, and composed of highly-related short consensus repeats (SCRs). This protein enhances the cofactor activity of CFH, and is involved in complement regulation. It can associate with lipoproteins and may play a role in lipid metabolism. Alternatively spliced transcript variants encoding different isoforms (varying in the number of SCRs) have been described for this gene. [provided by RefSeq, Jan 2011]., [RefSeq]", "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": 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": 22, "reported_interactions": 0, "missing_score": 8593, "biomarker_type": "", "glycan_count": 16, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "A8K9N7;B1ALQ9;C9J7J7;Q5DVJ7;Q9UJY6", "ec_number_list": [], "go_molecular_function": "GO:0005319 lipid transporter activity;GO:0001851 complement component C3b binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0006956 complement activation", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q92496-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BPY8-1", "uniprot_id": [ { "id": "HOP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BPY8", "type": "external" } ], "mass": 8260.0, "length": 73, "protein_name": "Homeodomain-only protein", "gene_name": "HOPX", "organism": "Human", "refseq_name": "homeodomain-only protein isoform b", "refseq_ac": [ { "id": "NP_001138931", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138931", "type": "external" } ], "gene_names_uniprotkb": "HOPX; HOD; HOP; LAGY; NECC1; OB1", "gene_names_refseq": "CAMEO; HOD; HOPX; HOP; LAGY; NECC1; OB1; SMAP31; TOTO", "protein_names_uniprotkb": "Homeodomain-only protein; Lung cancer-associated Y protein; Not expressed in choriocarcinoma protein 1; Odd homeobox protein 1", "protein_names_refseq": "homeodomain-only protein isoform b; homeodomain-only protein; lung cancer-associated Y protein; not expressed in choriocarcinoma clone 1; odd homeobox protein 1", "tax_id": 9606, "disease": "dilated cardiomyopathy (Disease Ontology:DOID:12930)", "pathway": " (hsa:84525); (R-HSA-9725554)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "12067728;12573257;12624109;12759545;14516659;15140226;15213722;15234001;15381369;15556625;15675955;15780751;16297201;17330888;19924134;22735594;23283814;23629652;24794495;26340985;27708256;29493099;29557506;29786170;30429286;30905808;31399284;31848261;32647304;33040396;33845078;34943964;35051231;35580925;36284347;38410516", "class_list": "", "function": "Atypical homeodomain protein which does not bind DNA and is required to modulate cardiac growth and development. Acts via its interaction with SRF, thereby modulating the expression of SRF-dependent cardiac-specific genes and cardiac development. Prevents SRF-dependent transcription either by inhibiting SRF binding to DNA or by recruiting histone deacetylase (HDAC) proteins that prevent transcription by SRF. Overexpression causes cardiac hypertrophy (By similarity). May act as a tumor suppressor. Acts as a co-chaperone for HSPA1A and HSPA1B chaperone proteins and assists in chaperone-mediated protein refolding (PubMed:27708256)., [UniProtKB, PubMed, UniProtKB]; Gene mapping locates LAGY on chromosome 4q11-13.1. In 72 primary lung tumors, this gene was significantly down-regulated compared to 9 normal lung tissue samples., [RefSeq, PubMed]; HOPX Exhibits Oncogenic Activity during Squamous Skin Carcinogenesis., [RefSeq, PubMed]; HOPX Plays a Critical Role in Antiretroviral Drugs Induced Epigenetic Modification and Cardiac Hypertrophy. Publication Status: Online-Only, [RefSeq, PubMed]; HOPX regulates bone marrow-derived mesenchymal stromal cell fate determination via suppression of adipogenic gene pathways. Publication Status: Online-Only, [RefSeq, PubMed]; Homeodomain-only protein suppresses proliferation and contributes to differentiation- and age-related reduced CD8[+] T cell expansion. Publication Status: Online-Only, [RefSeq, PubMed]; Loss of NECC1 expression is involved in malignant conversion of placental trophoblasts., [RefSeq, PubMed]; Molecular basis of the interaction of Hsp90 with its co-chaperone Hop., [RefSeq, PubMed]; The protein encoded by this gene is a homeodomain protein that lacks certain conserved residues required for DNA binding. It was reported that choriocarcinoma cell lines and tissues failed to express this gene, which suggested the possible involvement of this gene in malignant conversion of placental trophoblasts. Studies in mice suggest that this protein may interact with serum response factor (SRF) and modulate SRF-dependent cardiac-specific gene expression and cardiac development. Multiple alternatively spliced transcript variants have been identified for this gene. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K0Z2;E9PB55;G3V294;Q8N0V6;Q96CI1", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0035033 histone deacetylase regulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0003166 bundle of His development;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0001829 trophectodermal cell differentiation;GO:1903598 positive regulation of gap junction assembly", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q9BPY8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P13674-1", "uniprot_id": [ { "id": "P4HA1_HUMAN", "url": "https://www.uniprot.org/uniprot/P13674", "type": "external" } ], "mass": 61049.0, "length": 534, "protein_name": "Prolyl 4-hydroxylase subunit alpha-1", "gene_name": "P4HA1", "organism": "Human", "refseq_name": "prolyl 4-hydroxylase subunit alpha-1 isoform 1 precursor", "refseq_ac": [ { "id": "NP_000908", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000908", "type": "external" } ], "gene_names_uniprotkb": "P4HA1; P4HA", "gene_names_refseq": "P4HA1; P4HA", "protein_names_uniprotkb": "Prolyl 4-hydroxylase subunit alpha-1; 1.14.11.2; 4-PH alpha-1; Procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-1", "protein_names_refseq": "C-P4Halpha(I); collagen prolyl 4-hydroxylase alpha(I); procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I; procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-1; prolyl 4-hydroxylase subunit alpha-1 isoform 1 precursor; prolyl 4-hydroxylase, alpha polypeptide I", "tax_id": 9606, "disease": "", "pathway": " (hsa:5033); (R-HSA-1650814); (R-HSA-9918432)", "pathway_count": 3, "publication_count": 138, "publication_id_list": "37268159;10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10228156;10479448;10934207;12473679;12475640;12646579;1323838;14500733;15028279;15044469;15456751;1577494;16591531;18487197;18991276;19075007;19159218;19693541;20470363;21872626;21878990;21967573;21993680;22121020;22299025;22544926;23090970;23481700;23584533;24190977;24366607;24714562;25418920;2543975;25505266;25576301;25813380;25892735;26154972;26208004;26375851;26728094;26853435;26992070;27383988;27543614;27600516;27846572;27862975;27920218;28218747;28228285;28228593;28467828;28832583;28834231;28904123;29093164;29242379;29437277;29493099;29508533;29557506;29632711;29741879;29786170;30315122;30397120;30410026;30429286;30524438;30779550;30919021;31154438;31217245;31530632;3173483;31844290;31848261;31937595;31998317;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33592498;33691108;33717175;33912179;33968037;33981976;34078123;34171305;34229054;34561969;34725712;35051231;35138101;35154160;35215835;35251023;35318648;35494241;35561310;35580925;36010968;36215666;36284347;37074911;37161136;37247900;37922570;38134053;38665916;38793607;3905801;3938630;40914422;6307276;6809411;710450;7961714;9054364;9211872;9545296;9560306;9582318", "class_list": "", "function": "Catalyzes the post-translational formation of 4-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins., [UniProtKB, PubMed]; Identification and validation of INHBE and P4HA1 as hub genes in non-alcoholic fatty liver disease., [RefSeq, PubMed]; Identification and verification of FN1, P4HA1 and CREBBP as potential biomarkers in human atrial fibrillation., [RefSeq, PubMed]; P4HA1 Promotes Cell Migration and Colonization in Hypopharyngeal Squamous Cell Carcinoma., [RefSeq, PubMed]; P4HA1 expression and function in esophageal squamous cell carcinoma., [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. 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": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 1, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 26, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "C9JL12;Q15082;Q15083;Q5VSQ5", "ec_number_list": [ { "id": "1.14.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.2", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" } ], "go_molecular_function": "GO:0005506 iron ion binding;GO:0042802 identical protein binding;GO:0031418 L-ascorbic acid binding;GO:0004656 procollagen-proline 4-dioxygenase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0016020 membrane;GO:0016222 procollagen-proline 4-dioxygenase complex", "go_biological_process": "GO:0030199 collagen fibril organization", "synthesized_glycan_count": 0, "hit_score": 17.0, "record_id": "P13674-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100100000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P36578-1", "uniprot_id": [ { "id": "RL4_HUMAN", "url": "https://www.uniprot.org/uniprot/P36578", "type": "external" } ], "mass": 47697.0, "length": 427, "protein_name": "Large ribosomal subunit protein uL4", "gene_name": "RPL4", "organism": "Human", "refseq_name": "large ribosomal subunit protein uL4", "refseq_ac": [ { "id": "NP_000959", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000959", "type": "external" } ], "gene_names_uniprotkb": "RPL4; RPL1", "gene_names_refseq": "L4; RPL4; uL4", "protein_names_uniprotkb": "Large ribosomal subunit protein uL4; 60S ribosomal protein L1; 60S ribosomal protein L4", "protein_names_refseq": "60S ribosomal protein L1; 60S ribosomal protein L4; large ribosomal subunit protein uL4", "tax_id": 9606, "disease": "", "pathway": " (hsa:6124); (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": 333, "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;11823430;11875025;11875071;11922599;11964406;12042320;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;1400365;14527413;14567916;14630918;14636577;14654843;14742663;14973490;15034551;15104674;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16408927;16452507;16469117;16601204;16622410;16630668;16738141;16989641;17053788;17142313;17189298;17267404;17322306;17352659;17353269;17363904;17412707;17726049;17803942;17893241;17924679;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18455985;18524595;18539146;1856230;1861871;18657639;18669648;18691976;18767875;18974281;18991276;19007248;19060897;19106111;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608861;19608919;19664995;19691289;19706539;19801658;19859661;19909264;20023408;20038530;20056613;2006156;20068231;20305658;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21419344;21872626;21993680;22009320;22072790;22121020;22190735;22195017;22645359;22916032;23085078;23186163;23217742;23234702;23269699;23301498;23439679;23481700;23482395;23636399;23685075;23746841;2388630;24424021;24524803;24550520;24714562;24715725;25114211;25132172;25242263;25418920;25469497;25502872;25525153;25576301;25578875;25645385;25810538;25880248;25892735;25969445;26024233;26154972;26237581;26375851;26728094;26758079;26768311;26811146;26929215;26992070;27090790;27397612;27452731;27526673;27543614;27600516;27846572;27862975;27869121;27920218;28065601;28132843;28218747;28228285;28467828;28510447;28514659;28685749;28832583;28834231;28855257;28860189;28904123;29242379;29317506;29331515;29393594;29413899;29437277;29493099;29508533;29557506;29605689;29632046;29632312;29632711;29774024;29786170;29789417;30192525;30244831;30293783;30315122;30410026;30444036;30484775;30524438;30573663;30779550;30804176;30833945;31011209;31020640;31154438;31217245;31530632;31844290;31848261;31998317;32099016;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32522876;32579943;32669547;32897882;32938616;32983136;33039556;33043033;33091337;33141586;33214551;33298915;33392160;33406423;33465208;33537174;33592498;33633747;33691108;33717175;33909987;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34211107;34357683;34509645;34561969;34725712;34932366;35008409;35051231;35083852;35138101;35154160;35251023;35289036;35318648;35561310;35580925;36010968;36241641;36284347;36302773;36581221;37217939;37676773;37938771;38665916;40596516;40914422;429297;592398;592399;641056;6568109;6901506;7990965;8268230;8336711;8407925;8890909;9029102;9211906;9431993;9482744;9631292;9637248;9712840", "class_list": "glycogene", "function": "Component of the large ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell., [UniProtKB, UniProtKB, UniProtKB, PubMed, 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 60S subunit. The protein belongs to the L4E family of ribosomal proteins. It is located in the cytoplasm. 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]; The interaction between nucleophosmin/NPM1 and the large ribosomal subunit precursors contribute to maintaining the nucleolar 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": 2, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 480, "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": "A8K502;P39029;Q4VBR0;Q969Z9", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005791 rough endoplasmic reticulum;GO:0005829 cytosol", "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": 34.1, "record_id": "P36578-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NP50-1", "uniprot_id": [ { "id": "SHCAF_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NP50", "type": "external" } ], "mass": 24852.0, "length": 221, "protein_name": "SIN3-HDAC complex-associated factor", "gene_name": "SINHCAF", "organism": "Human", "refseq_name": "SIN3-HDAC complex-associated factor", "refseq_ac": [ { "id": "NP_001129283", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129283", "type": "external" } ], "gene_names_uniprotkb": "SINHCAF; C12orf14; FAM60A; L4", "gene_names_refseq": "C12orf14; FAM60A; L4; SINHCAF; TERA", "protein_names_uniprotkb": "SIN3-HDAC complex-associated factor; Protein FAM60A; Tera protein homolog", "protein_names_refseq": "SIN3-HDAC complex-associated factor; family with sequence similarity 60 member A; protein FAM60A; tera protein homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:58516)", "pathway_count": 1, "publication_count": 69, "publication_id_list": "11237011;15334068;17081983;17525332;22865885;22984288;23481700;24366607;24714562;24715725;24958902;25418920;25576301;25645385;26154972;26375851;26728094;26811146;26929215;26992070;27846572;27862975;27920218;28228285;28832583;28834231;28855257;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30429286;30484775;30524438;30779550;30833945;31092671;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32265295;32488085;32502341;32897882;32983136;33717175;33912179;33936100;33968037;34238425;34357683;34932366;35051231;35213078;35580925;36010968;36056608;36241641;36284347", "class_list": "", "function": "Family with sequence similarity 60A (FAM60A) protein is a cell cycle-fluctuating regulator of the SIN3-HDAC1 histone deacetylase complex., [RefSeq, PubMed]; Restraint of FAM60A has a cancer-inhibiting role in pancreatic carcinoma via the effects on the Akt/GSK-3beta/beta-catenin signaling pathway., [RefSeq, PubMed]; SIN3-HDAC complex-associated factor, a chromatin remodelling gene located in the 12p amplicon, is a potential germ cell tumour-specific oncogene., [RefSeq, PubMed]; Studies reveal that loss of FAM60A or another component of the Sin3 complex, SDS3, leads to a change in cell morphology and an increase in cell migration, [RefSeq, PubMed]; Subunit of the Sin3 deacetylase complex (Sin3/HDAC), this subunit is important for the repression of genes encoding components of the TGF-beta signaling pathway (PubMed:22865885, PubMed:22984288). Core component of a SIN3A complex (composed of at least SINHCAF, SIN3A, HDAC1, SAP30, RBBP4, OGT and TET1) present in embryonic stem (ES) cells. Promotes the stability of SIN3A and its presence on chromatin and is essential for maintaining the potential of ES cells to proliferate rapidly, while ensuring a short G1-phase of the cell cycle, thereby preventing premature lineage priming (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; [Research Progress of FAM60A in the Regulation of Cellular 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": 5, "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": "D3DUV8;Q9BSZ8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0070822 Sin3-type complex", "go_biological_process": "GO:1902459 positive regulation of stem cell population maintenance;GO:1902455 negative regulation of stem cell population maintenance;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0008284 positive regulation of cell population proliferation;GO:0030336 negative regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "Q9NP50-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UHJ3-1", "uniprot_id": [ { "id": "SMBT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UHJ3", "type": "external" } ], "mass": 98141.0, "length": 866, "protein_name": "Scm-like with four MBT domains protein 1", "gene_name": "SFMBT1", "organism": "Human", "refseq_name": "scm-like with four MBT domains protein 1", "refseq_ac": [ { "id": "NP_057413", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057413", "type": "external" } ], "gene_names_uniprotkb": "SFMBT1; RU1", "gene_names_refseq": "RU1; SFMBT1; SFMBT; hSFMBT", "protein_names_uniprotkb": "Scm-like with four MBT domains protein 1; Renal ubiquitous protein 1; hSFMBT", "protein_names_refseq": "Scm-related gene containing four mbt domains; Scm-related gene product containing four mbt domains; renal ubiquitous protein 1; scm-like with four MBT domains protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:51460)", "pathway_count": 1, "publication_count": 46, "publication_id_list": "10661410;11237011;17599839;18669648;19651622;21325761;22479346;23186163;23349461;23592795;24190977;25576301;25880248;26992070;27600516;29493099;29557506;29632046;29632711;29886071;30429286;30484775;31844290;32023483;32157095;32161166;32357974;32387766;32938616;33091337;33298915;33481017;33592498;33691108;33968037;33981976;34087483;34405274;34509645;34978167;35051231;35580925;36010968;36215666;36241641;36284347", "class_list": "", "function": "A segmental copy number loss of the SFMBT1 gene may be involved in the pathological process in some individuals with ventriculomegaly/idiopathic normal pressure hydrocephalus., [RefSeq, PubMed]; Data identified IGF1, SLC4A4, WWOX, and SFMBT1 as hypertension susceptibility genes by gene based association scan and gene expression analysis., [RefSeq, PubMed]; High SFMBT1 expression is associated with clear cell renal cell carcinomas., [RefSeq, PubMed]; Histone-binding protein, which is part of various corepressor complexes. Mediates the recruitment of corepressor complexes to target genes, followed by chromatin compaction and repression of transcription. Plays a role during myogenesis: required for the maintenance of undifferentiated states of myogenic progenitor cells via interaction with MYOD1. Interaction with MYOD1 leads to the recruitment of associated corepressors and silencing of MYOD1 target genes. Part of the SLC complex in germ cells, where it may play a role during spermatogenesis., [UniProtKB, PubMed, PubMed, PubMed]; Multi-omics analysis to identify susceptibility genes for colorectal cancer., [RefSeq, PubMed]; Regulatory Variant rs2535629 in ITIH3 Intron Confers Schizophrenia Risk By Regulating CTCF Binding and SFMBT1 Expression., [RefSeq, PubMed]; SFMBT1 knockdown was demonstrated to inhibit cell growth and induced apoptosis, which was consistent with the function of miR-20a- 3p upregulation in HaCaT cells., [RefSeq, PubMed]; The tandem MBT repeats form a functional structure required for biological activity of hSFMBT and predict similar properties for other MBT domain-containing proteins., [RefSeq, PubMed]; This gene shares high similarity with the Drosophila Scm (sex comb on midleg) gene. It encodes a protein which contains four malignant brain tumor repeat (mbt) domains and may be involved in antigen recognition. [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": 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": 4, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q402F7;Q96C73;Q9Y4Q9", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003714 transcription corepressor activity;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0048635 negative regulation of muscle organ development;GO:0006351 DNA-templated transcription;GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q9UHJ3-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y272-1", "uniprot_id": [ { "id": "RASD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y272", "type": "external" } ], "mass": 31642.0, "length": 281, "protein_name": "Dexamethasone-induced Ras-related protein 1", "gene_name": "RASD1", "organism": "Human", "refseq_name": "dexamethasone-induced Ras-related protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001186918", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186918", "type": "external" } ], "gene_names_uniprotkb": "RASD1; AGS1; DEXRAS1", "gene_names_refseq": "AGS1; DEXRAS1; MGC:26290; RASD1", "protein_names_uniprotkb": "Dexamethasone-induced Ras-related protein 1; Activator of G protein signaling 1", "protein_names_refseq": "RAS, dexamethasone-induced 1; activator of G-protein signaling 1; dexamethasone-induced Ras-related protein 1 isoform 2; ras-related protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:51655)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "10471929;10673050;12498886;12818426;25576301;27600516;29557506;29786170;31154438;31844290;31848261;32157095;33255991;33357137;33968037;36284347;36305088", "class_list": "", "function": "Genetic Analysis of RASD1 as a Candidate Gene for Schizophrenia, [RefSeq, PubMed]; Hsa-miR-375/RASD1 Signaling May Predict Local Control in Early Breast Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Prognostic value of RASD1 transcript levels in adult Philadelphia-negative B-cell acute lymphoblastic leukemia., [RefSeq, PubMed]; Small GTPase. Negatively regulates the transcription regulation activity of the APBB1/FE65-APP complex via its interaction with APBB1/FE65 (By similarity)., [UniProtKB]; This gene encodes a member of the Ras superfamily of small GTPases and is induced by dexamethasone. The encoded protein is an activator of G-protein signaling and acts as a direct nucleotide exchange factor for Gi-Go proteins. This protein interacts with the neuronal nitric oxide adaptor protein CAPON, and a nuclear adaptor protein FE65, which interacts with the Alzheimer's disease amyloid precursor protein. This gene may play a role in dexamethasone-induced alterations in cell morphology, growth and cell-extracellular matrix interactions. Epigenetic inactivation of this gene is closely correlated with resistance to dexamethasone in multiple myeloma cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 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": "B2R709;B4DFF4;Q9NYB4", "ec_number_list": [], "go_molecular_function": "GO:0031681 G-protein beta-subunit binding;GO:0003924 GTPase activity;GO:0005525 GTP binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0048471 perinuclear region of cytoplasm;GO:0016529 sarcoplasmic reticulum", "go_biological_process": "GO:0007165 signal transduction;GO:0007186 G protein-coupled receptor signaling pathway;GO:0045892 negative regulation of DNA-templated transcription;GO:0007263 nitric oxide mediated signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q9Y272-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q0D2K3-1", "uniprot_id": [ { "id": "RIPP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q0D2K3", "type": "external" } ], "mass": 16379.0, "length": 151, "protein_name": "Protein ripply1", "gene_name": "RIPPLY1", "organism": "Human", "refseq_name": "protein ripply1 isoform 2", "refseq_ac": [ { "id": "NP_001165177", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165177", "type": "external" } ], "gene_names_uniprotkb": "RIPPLY1", "gene_names_refseq": "RIPPLY1", "protein_names_uniprotkb": "Protein ripply1", "protein_names_refseq": "protein ripply1 isoform 2; protein ripply1; ripply1 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:92129)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "16326386;23481700;28904123", "class_list": "", "function": "Plays a role in somitogenesis. Essential for transcriptional repression of the segmental patterning genes, thus terminating the segmentation program in the presomitic mesoderm, and also required for the maintenance of rostrocaudal polarity in somites (By similarity)., [UniProtKB, UniProtKB]; This gene encodes a protein similar to a zebrafish protein which acts as a transcriptional repressor in and is required for somite segmentation in zebrafish embryos (PMID: 16326386). Multiple transcript variants encoding different 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A0JP63;Q0VGB3;Q5JRB8;Q5JRB9", "ec_number_list": [], "go_molecular_function": "", "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:0045892 negative regulation of DNA-templated transcription;GO:0001757 somite specification;GO:0009880 embryonic pattern specification", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q0D2K3-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75575-1", "uniprot_id": [ { "id": "RPC9_HUMAN", "url": "https://www.uniprot.org/uniprot/O75575", "type": "external" } ], "mass": 16871.0, "length": 148, "protein_name": "DNA-directed RNA polymerase III subunit RPC9", "gene_name": "CRCP", "organism": "Human", "refseq_name": "DNA-directed RNA polymerase III subunit RPC9 isoform b", "refseq_ac": [ { "id": "NP_001035737", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035737", "type": "external" } ], "gene_names_uniprotkb": "CRCP", "gene_names_refseq": "C17; CGRP-RCP; CGRPRCP; CRCP; POLR3I; POLR3J; RCP9; RCP; RPC9", "protein_names_uniprotkb": "DNA-directed RNA polymerase III subunit RPC9; CGRP-RCP; CGRP-receptor component protein; CGRPRCP; Calcitonin gene-related peptide-receptor component protein; HsC17; RNA polymerase III subunit C9", "protein_names_refseq": "CGRP-receptor component protein; DNA-directed RNA polymerase III subunit RPC9 isoform b; DNA-directed RNA polymerase III subunit RPC9; RNA polymerase III subunit C9; calcitonin gene-related peptide-receptor component protein", "tax_id": 9606, "disease": "sciatic neuropathy (Disease Ontology:DOID:11446)", "pathway": " (hsa:27297); (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": 66, "publication_id_list": "10067875;10421633;11056176;11118217;11237011;11419933;11463379;12381659;12391170;12482973;15592455;16344560;19158675;19158676;19158679;1946469;19609254;19631370;20068231;20413673;21398614;23251783;23388631;23481700;2404611;25576301;26992070;27543614;28832583;28834231;29242379;29557506;30524438;31844290;32357974;32387766;32502341;32938616;33141586;33298915;33335104;33558764;33558766;33674783;33717175;33912179;33936100;33968037;34087483;34509645;34675218;35051231;38743922;7568218;7891697;7995525;8035818;8308883;8407894;8423814;9003788;9171375;9234698;9312031;9418884;9660958", "class_list": "", "function": "Accessory protein for the calcitonin gene-related peptide (CGRP) receptor. It modulates CGRP responsiveness in a variety of tissues., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates (PubMed:20413673, PubMed:33558764, PubMed:34675218). Specific peripheric component of RNA polymerase III (Pol III) which synthesizes small non-coding RNAs including 5S rRNA, snRNAs, tRNAs and miRNAs from at least 500 distinct genomic loci. With POLR3H/RPC8 forms a mobile stalk that protrudes from Pol III core and functions primarily in transcription initiation (By similarity) (PubMed:20413673, PubMed:33558764, PubMed:33558766, PubMed:34675218). Pol III plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF-kappa-B through the RIG-I pathway (PubMed:19609254, PubMed:19631370)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Meningeal lymphatic CGRP signaling governs pain via cerebrospinal fluid efflux and neuroinflammation in migraine models. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a membrane protein that functions as part of a receptor complex for a small neuropeptide that increases intracellular cAMP levels. 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": 2, "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": "A8MUZ4;A8MW23;B2R4H4;B4E198;Q3KRA3;Q5HYF1;Q8IXL4", "ec_number_list": [], "go_molecular_function": "GO:0000166 nucleotide binding;GO:0001635 calcitonin gene-related peptide receptor activity;GO:0003899 DNA-directed RNA polymerase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0001669 acrosomal vesicle", "go_biological_process": "GO:0045087 innate immune response;GO:0051607 defense response to virus;GO:0006383 transcription by RNA polymerase III;GO:0006386 termination of RNA polymerase III transcription;GO:0006384 transcription initiation at RNA polymerase III promoter", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "O75575-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86XF7-1", "uniprot_id": [ { "id": "ZN575_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86XF7", "type": "external" } ], "mass": 26763.0, "length": 245, "protein_name": "Zinc finger protein 575", "gene_name": "ZNF575", "organism": "Human", "refseq_name": "zinc finger protein 575", "refseq_ac": [ { "id": "NP_777605", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_777605", "type": "external" } ], "gene_names_uniprotkb": "ZNF575", "gene_names_refseq": "ZNF575", "protein_names_uniprotkb": "Zinc finger protein 575", "protein_names_refseq": "zinc finger protein 575", "tax_id": 9606, "disease": "", "pathway": " (hsa:284346)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;19773279;30925934;31217245;31844290;33968037;35051231", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Results found DNA methylation of the ZNF575 gene in infant cord blood to be associated with maternal antidepressant use in pregnancy in two independent cohorts. This association persists into early childhood. 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": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DX54", "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: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": "Q86XF7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UNL4-1", "uniprot_id": [ { "id": "ING4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UNL4", "type": "external" } ], "mass": 28530.0, "length": 249, "protein_name": "Inhibitor of growth protein 4", "gene_name": "ING4", "organism": "Human", "refseq_name": "inhibitor of growth protein 4 isoform 9", "refseq_ac": [ { "id": "NP_001121054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121054", "type": "external" } ], "gene_names_uniprotkb": "ING4; My036", "gene_names_refseq": "ING4; my036; p29ING4", "protein_names_uniprotkb": "Inhibitor of growth protein 4; p29ING4", "protein_names_refseq": "brain my036 protein; candidate tumor suppressor p33 ING1 homolog; inhibitor of growth protein 4 isoform 9; inhibitor of growth protein 4", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162); squamous cell carcinoma (Disease Ontology:DOID:1749); melanoma (Disease Ontology:DOID:1909); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:51147); (R-HSA-3214847)", "pathway_count": 2, "publication_count": 79, "publication_id_list": "10786633;10821277;10931946;11237011;12750254;15029197;15251430;15313887;15528276;15882981;15897452;16387653;16728974;16973615;17325660;18381289;18623064;18991276;19187765;19608861;20018852;21454715;22334692;23481700;24366607;25576301;25645385;26154972;26375851;26758079;26992070;27543614;27600516;27862975;27920218;28228285;28514659;28649982;28832583;28904123;29242379;29493099;29508533;29557506;29632711;29786170;29789417;30429286;30524438;31844290;32157095;32357974;32387766;32502341;32897882;32938616;32983136;33298915;33334698;33392160;33592498;33717175;33778834;33968037;34087483;34405274;34509645;34787253;35051231;35388759;35561310;35580925;36010968;36284347;37217939;37938771;9427644;9558366;9880483", "class_list": "", "function": "Component of HBO1 complexes, which specifically mediate acetylation of histone H3 at 'Lys-14' (H3K14ac), and have reduced activity toward histone H4 (PubMed:16387653). Through chromatin acetylation it may function in DNA replication (PubMed:16387653). May inhibit tumor progression by modulating the transcriptional output of signaling pathways which regulate cell proliferation (PubMed:15251430, PubMed:15528276). Can suppress brain tumor angiogenesis through transcriptional repression of RELA/NFKB3 target genes when complexed with RELA (PubMed:15029197). May also specifically suppress loss of contact inhibition elicited by activated oncogenes such as MYC (PubMed:15029197). Represses hypoxia inducible factor's (HIF) activity by interacting with HIF prolyl hydroxylase 2 (EGLN1) (PubMed:15897452). Can enhance apoptosis induced by serum starvation in mammary epithelial cell line HC11 (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Data suggest that alternative splicing could modulate the activity of ING4 tumor suppressor protein, [RefSeq, PubMed]; ING3 and ING4 immunoexpression and their relation to the development of benign odontogenic lesions., [RefSeq, PubMed]; ING4 Expression Landscape and Association With Clinicopathologic Characteristics in Breast Cancer., [RefSeq, PubMed]; ING4 induces G2/M cell cycle arrest and enhances the chemosensitivity to DNA-damage agents in HepG2 cells, [RefSeq, PubMed]; In mice, xenografts of human glioblastoma U87MG, which has decreased expression of ING4, grow significantly faster and have higher vascular volume fractions than control tumours, [RefSeq, PubMed]; Inhibitor of Growth 4 (ING4) Plays a Tumor-repressing Role in Oral Squamous Cell Carcinoma via Nuclear Factor Kappa-B (NF-kB)/DNA Methyltransferase 1 (DNMT1) Axis-mediated Regulation of Aldehyde Dehydrogenase 1A2 (ALDH1A2)., [RefSeq, PubMed]; P29ING4 and p28ING5 may be significant modulators of p53 function., [RefSeq, PubMed]; This gene encodes a tumor suppressor protein that contains a PHD-finger, which is a common motif in proteins involved in chromatin remodeling. This protein can bind TP53 and EP300/p300, a component of the histone acetyl transferase complex, suggesting its involvement in the TP53-dependent regulatory pathway. Multiple alternatively spliced transcript variants have been observed that encode distinct proteins. [provided by RefSeq, Jul 2008]., [RefSeq]; [Expression levels of MMP-14, ING4 and HIF-1alpha in 60 patients with oral squamous cell carcinoma and their clinical significance]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A4KYM4;A4KYM6;D3DUR8;Q0EF62;Q0EF63;Q4VBQ6;Q96E15;Q9H3J0", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0008270 zinc ion binding;GO:0140002 histone H3K4me3 reader activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000123 histone acetyltransferase complex", "go_biological_process": "GO:2000278 regulation of DNA biosynthetic process;GO:0006338 chromatin remodeling;GO:0008285 negative regulation of cell population proliferation;GO:0043065 positive regulation of apoptotic process;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "Q9UNL4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P0R6-1", "uniprot_id": [ { "id": "GSKIP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P0R6", "type": "external" } ], "mass": 15648.0, "length": 139, "protein_name": "GSK3B-interacting protein", "gene_name": "GSKIP", "organism": "Human", "refseq_name": "GSK3B-interacting protein", "refseq_ac": [ { "id": "NP_001258833", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258833", "type": "external" } ], "gene_names_uniprotkb": "GSKIP; C14orf129; HSPC210", "gene_names_refseq": "C14orf129; GSKIP; HSPC210", "protein_names_uniprotkb": "GSK3B-interacting protein; GSK3beta interaction protein; GSKIP", "protein_names_refseq": "GSK3-beta interaction protein; GSK3B-interacting protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:51527)", "pathway_count": 1, "publication_count": 50, "publication_id_list": "11237011;16981698;19830702;20007971;22424782;23481700;24715725;25418920;25645385;25920809;27484798;28228285;28832583;29242379;29493099;29508533;29557506;29632711;29786170;30315122;31154438;31844290;31848261;31937595;31998317;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33717175;33912179;33968037;34087483;34171305;34172895;34211107;34509645;34748402;34932366;35051231;35318648;35580925;36550871", "class_list": "", "function": "A-kinase anchoring protein for GSK3B and PKA that regulates or facilitates their kinase activity towards their targets (PubMed:16981698, PubMed:25920809, PubMed:27484798). The ternary complex enhances Wnt-induced signaling by facilitating the GSK3B- and PKA-induced phosphorylation of beta-catenin leading to beta-catenin degradation and stabilization respectively (PubMed:16981698, PubMed:27484798). Upon cAMP activation, the ternary complex contributes to neuroprotection against oxidative stress-induced apoptosis by facilitating the PKA-induced phosphorylation of DML1 and PKA-induced inactivation of GSK3B (PubMed:25920809). During neurite outgrowth promotes neuron proliferation; while increases beta-catenin-induced transcriptional activity through GSK3B kinase activity inhibition, reduces N-cadherin level to promote cell cycle progression (PubMed:19830702)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; GSKIP is a naturally occurring protein that is homologous with the GSK3beta interaction domain of Axin and is able to negatively regulate GSK3beta of the Wnt signaling pathway., [RefSeq, PubMed]; Germline ATG2B/GSKIP-containing 14q32 duplication predisposes to early clonal hematopoiesis leading to myeloid neoplasms., [RefSeq, PubMed]; High expression of GSKIP is associated with poor prognosis in meningioma., [RefSeq, PubMed]; Loss of Atg2b and Gskip Impairs the Maintenance of the Hematopoietic Stem Cell Pool Size., [RefSeq, PubMed]; This gene encodes a protein that is involved as a negative regulator of GSK3-beta in the Wnt signaling pathway. The encoded protein may play a role in the retinoic acid signaling pathway by regulating the functional interactions between GSK3-beta, beta-catenin and cyclin D1, and it regulates the beta-catenin/N-cadherin pool. The encoded protein contains a GSK3-beta interacting domain (GID) in its C-terminus, which is similar to the GID of Axin. The protein also contains an evolutionarily conserved RII-binding domain, which facilitates binding with protein kinase-A and GSK3-beta, enabling its role as an A-kinase anchoring protein. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "B3KSZ0;Q9BST1;Q9NWK0", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0004860 protein kinase inhibitor activity;GO:0034237 protein kinase A regulatory subunit binding;GO:0051018 protein kinase A binding;GO:0019207 kinase regulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006469 negative regulation of protein kinase activity;GO:0030111 regulation of Wnt signaling pathway;GO:0090263 positive regulation of canonical Wnt signaling pathway;GO:0008631 intrinsic apoptotic signaling pathway in response to oxidative stress;GO:0060828 regulation of canonical Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q9P0R6-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96NU7-1", "uniprot_id": [ { "id": "HUTI_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96NU7", "type": "external" } ], "mass": 46743.0, "length": 426, "protein_name": "Probable imidazolonepropionase", "gene_name": "AMDHD1", "organism": "Human", "refseq_name": "probable imidazolonepropionase", "refseq_ac": [ { "id": "NP_689648", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689648", "type": "external" } ], "gene_names_uniprotkb": "AMDHD1; HMFT1272", "gene_names_refseq": "AMDHD1; HMFT1272", "protein_names_uniprotkb": "Probable imidazolonepropionase; 3.5.2.7; Amidohydrolase domain-containing protein 1", "protein_names_refseq": "amidohydrolase domain-containing protein 1; probable imidazolonepropionase", "tax_id": 9606, "disease": "", "pathway": " (hsa:144193); (R-HSA-70921)", "pathway_count": 2, "publication_count": 27, "publication_id_list": "10773664;11237011;11566133;12072962;12815595;1425659;15221005;15806399;18154359;19304569;20097752;23481700;25418920;26001783;29343764;29371260;29557506;30192525;31844290;32161166;32502341;32938616;33968037;35051231;39143229;7901203;7943261", "class_list": "", "function": "Catalyzes the hydrolytic cleavage of the carbon-nitrogen bond in imidazolone-5-propanoate to form N-formimidoyl-L-glutamate. This reaction represents the third step of the universal histidine degradation pathway. In addition to its metabolic role, functions as a tumor suppressor by promoting TGF-beta signaling. Mechanistically, inhibits ubiquitination and proteasomal degradation of SMAD4, thereby stabilizing the protein. Enhances SMAD2/3 phosphorylation and increases TGF-beta-dependent transcriptional responses. Consequently, promotes apoptosis and induces cell cycle arrest in tumor cells (PubMed:39143229)., [UniProtKB, UniProtKB, PubMed]; This larger GWAS yields two loci harboring genome-wide significant variants affecting serum 25-hydroxyvitamin D levels (P = 4.7x10(-9) at rs8018720 in SEC23A, and P = 1.9x10(-14) at rs10745742 in AMDHD1). 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": 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": "A8K463;Q68CI8", "ec_number_list": [ { "id": "3.5.2.7", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.2.7", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0016812 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides;GO:0050480 imidazolonepropionase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0019556 L-histidine catabolic process to glutamate and formamide;GO:0019557 L-histidine catabolic process to glutamate and formate;GO:0006548 L-histidine catabolic process", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q96NU7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01772-1", "uniprot_id": [ { "id": "HV333_HUMAN", "url": "https://www.uniprot.org/uniprot/P01772", "type": "external" } ], "mass": 13074.0, "length": 117, "protein_name": "Immunoglobulin heavy variable 3-33", "gene_name": "IGHV3-33", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGHV3-33", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin heavy variable 3-33; Ig heavy chain V-III region HIL; Ig heavy chain V-III region KOL", "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": 537, "publication_id_list": 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"class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin heavy 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": 533, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A0B4J1V3;P01771", "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:0016064 immunoglobulin mediated immune response", "synthesized_glycan_count": 0, "hit_score": 53.8, "record_id": "P01772-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00001", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y4D8-1", "uniprot_id": [ { "id": "HECD4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y4D8", "type": "external" } ], "mass": 439344.0, "length": 3996, "protein_name": "Probable E3 ubiquitin-protein ligase HECTD4", "gene_name": "HECTD4", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "HECTD4; C12orf51; KIAA0614", "gene_names_refseq": "", "protein_names_uniprotkb": "Probable E3 ubiquitin-protein ligase HECTD4; 2.3.2.26; HECT domain-containing protein 4; HECT-type E3 ubiquitin transferase HECTD4", "protein_names_refseq": "", "tax_id": 9606, "disease": "neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum (MONDO:MONDO:0859516)", "pathway": " (hsa:283450)", "pathway_count": 1, "publication_count": 82, "publication_id_list": "10.1101/2023.09.13.557529;11237011;22299025;23186163;23261826;23481700;23783831;24397554;24714562;24715725;25505266;25576301;25645385;25892735;26154972;26375851;26992070;27600516;27846572;27920218;28218747;28228285;28514659;28832583;28834231;28855257;28904123;29242379;29393594;29437277;29508533;29557506;29632711;29769354;29786170;30315122;30779550;30833945;31154438;31222486;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33091337;33141586;33298915;33537174;33592498;33633747;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;34561969;34932366;35051231;35251023;35318648;35580925;36010968;36215666;36241641;36284347;36401616;37217939;37938771;40307207", "class_list": "", "function": "E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates., [UniProtKB]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 13, "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": "L8B0P6;Q3MJD5;Q6P0A0;Q7L530;Q8NB70;Q8WU73;Q96NT9;Q9NZS4;Q9UFT6", "ec_number_list": [], "go_molecular_function": "GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0042593 glucose homeostasis;GO:0006006 glucose metabolic process;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "Q9Y4D8-1", "record_type": "protein", "filter_code": "0000000.1000111.001000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15146-1", "uniprot_id": [ { "id": "MUSK_HUMAN", "url": "https://www.uniprot.org/uniprot/O15146", "type": "external" } ], "mass": 97056.0, "length": 869, "protein_name": "Muscle, skeletal receptor tyrosine-protein kinase", "gene_name": "MUSK", "organism": "Human", "refseq_name": "muscle, skeletal receptor tyrosine-protein kinase isoform 2", "refseq_ac": [ { "id": "NP_001159752", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159752", "type": "external" } ], "gene_names_uniprotkb": "MUSK", "gene_names_refseq": "CMS9; FADS; MUSK", "protein_names_uniprotkb": "Muscle, skeletal receptor tyrosine-protein kinase; 2.7.10.1; MuSK; Muscle-specific kinase receptor; Muscle-specific tyrosine-protein kinase receptor", "protein_names_refseq": "muscle, skeletal receptor tyrosine-protein kinase isoform 2; muscle, skeletal receptor tyrosine-protein kinase; muscle, skeletal, receptor tyrosine kinase; muscle-specific kinase receptor; muscle-specific tyrosine-protein kinase receptor", "tax_id": 9606, "disease": "congenital myasthenic syndrome 9 (Disease Ontology:DOID:0110670); fetal akinesia deformation sequence syndrome (Disease Ontology:DOID:0111375); fetal akinesia deformation sequence syndrome 1 (Disease Ontology:DOID:0111377); myasthenia gravis (Disease Ontology:DOID:437)", "pathway": " (hsa:4593); (R-HSA-3000178)", "pathway_count": 2, "publication_count": 68, "publication_id_list": "10022829;10339611;10673326;10781064;11084047;11237011;11259413;12225811;1376317;14715956;15075323;15296743;1544908;15496425;16293224;16493581;16794080;16818610;17344846;17588949;19244212;19949040;20371544;2059554;20596523;20603078;21642437;21789315;22134916;23326516;2364322;2412224;24183479;2420006;2430969;25029443;25537362;25612909;28411811;29393594;32938616;32983136;33592498;33968037;35051231;36525997;36579833;37356721;6193777;6439184;7499434;7527058;7542669;7546737;7559467;7685013;7693733;7852349;8002934;8440685;8798654;8943283;9252349;9294172;9341124;9346959;9685393;9949188", "class_list": "", "function": "A mutation in DOK7 in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cells., [RefSeq, PubMed]; Missense mutation does not affect MuSK catalytic kinase activity but diminishes expression and stability., [RefSeq, PubMed]; Proteolytic ectodomain shedding of muscle-specific tyrosine kinase in myasthenia gravis., [RefSeq, PubMed]; Receptor tyrosine kinase which plays a central role in the formation and the maintenance of the neuromuscular junction (NMJ), the synapse between the motor neuron and the skeletal muscle (PubMed:25537362). Recruitment of AGRIN by LRP4 to the MUSK signaling complex induces phosphorylation and activation of MUSK, the kinase of the complex. The activation of MUSK in myotubes regulates the formation of NMJs through the regulation of different processes including the specific expression of genes in subsynaptic nuclei, the reorganization of the actin cytoskeleton and the clustering of the acetylcholine receptors (AChR) in the postsynaptic membrane. May regulate AChR phosphorylation and clustering through activation of ABL1 and Src family kinases which in turn regulate MUSK. DVL1 and PAK1 that form a ternary complex with MUSK are also important for MUSK-dependent regulation of AChR clustering. May positively regulate Rho family GTPases through FNTA. Mediates the phosphorylation of FNTA which promotes prenylation, recruitment to membranes and activation of RAC1 a regulator of the actin cytoskeleton and of gene expression. Other effectors of the MUSK signaling include DNAJA3 which functions downstream of MUSK. May also play a role in acetylcholinesterase (AChE) localization at the neuromuscular junctions (NMJ) via its interaction wit COLQ (By similarity). May also play a role within the central nervous system by mediating cholinergic responses, synaptic plasticity and memory formation (By similarity)., [UniProtKB, UniProtKB, PubMed]; The collagen ColQ binds to LRP4 and regulates the activation of the Muscle-Specific Kinase-LRP4 receptor complex by agrin at the neuromuscular junction., [RefSeq, PubMed]; This gene encodes a muscle-specific tyrosine kinase receptor. The encoded protein may play a role in clustering of the acetylcholine receptor in the postsynaptic neuromuscular junction. Mutations in this gene have been associated with congenital myasthenic syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009]., [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": 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": 4, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 40, "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": "Q32MJ8;Q32MJ9;Q5VZW7;Q5VZW8", "ec_number_list": [ { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" } ], "go_molecular_function": "GO:0004713 protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0017147 Wnt-protein binding;GO:0004714 transmembrane receptor protein tyrosine kinase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0031594 neuromuscular junction;GO:0043235 receptor complex;GO:0045211 postsynaptic membrane", "go_biological_process": "GO:0001934 positive regulation of protein phosphorylation;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0007528 neuromuscular junction development;GO:0007613 memory;GO:0010628 positive regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "O15146-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXA6-1", "uniprot_id": [ { "id": "TSSK6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXA6", "type": "external" } ], "mass": 30331.0, "length": 273, "protein_name": "Testis-specific serine/threonine-protein kinase 6", "gene_name": "TSSK6", "organism": "Human", "refseq_name": "testis-specific serine/threonine-protein kinase 6", "refseq_ac": [ { "id": "NP_114426", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_114426", "type": "external" } ], "gene_names_uniprotkb": "TSSK6; FKSG82; SSTK", "gene_names_refseq": "CT72; FKSG82; SSTK; TSK-6; TSSK6", "protein_names_uniprotkb": "Testis-specific serine/threonine-protein kinase 6; 2.7.11.1; CT72; Cancer/testis antigen 72; Serine/threonine-protein kinase SSTK; Small serine/threonine kinase; TSK-6; TSSK-6; Testis-specific kinase 6", "protein_names_refseq": "cancer/testis antigen 72; serine/threonine protein kinase SSTK; small serine/threonine kinase; testis secretory sperm-binding protein Li 205a; testis-specific serine/threonine-protein kinase 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:83983)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;15870294;20037600;20829357;34509645;35051231;38762178", "class_list": "", "function": "Findings, for the first time, suggested an association of c.822+126T>G/C in TSSK6 with spermatogenic impairment in humans in which allele T may be a risk factor for male infertility, while alleles C and G may decrease susceptibility to male infertility GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Results demonstrate that SSTK is required for proper postmeiotic chromatin remodeling and male fertility, [RefSeq, PubMed]; Serine/threonine-protein kinase component of the sperm flagellar doublet microtubules (PubMed:15870294). May act as a regulator of sperm motility by mediating phosphorylation of sperm doublet microtubule proteins (By similarity). Plays a role in DNA condensation during postmeiotic chromatin remodeling and histone-to-protamine transition during spermatogenesis (By similarity)., [UniProtKB, UniProtKB, PubMed]; Testis-specific serine kinase 6 (TSSK6) is abnormally expressed in colorectal cancer and promotes oncogenic behaviors., [RefSeq, PubMed]; This intronless gene encodes a member of the CAMK (calcium/calmodulin-dependent) serine/threonine protein kinase family. The encoded kinase has a broad expression pattern but is described as testis-specific due to effects on fertility. Male mice which lack the gene encoding a highly similar protein are sterile and have morphologically abnormal sperm. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R9F8;Q6ZMC4;Q96LJ4", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0044877 protein-containing complex binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0036126 sperm flagellum;GO:0160110 axonemal microtubule doublet inner sheath", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0030317 flagellated sperm motility;GO:0007286 spermatid development;GO:0035092 sperm DNA condensation;GO:0007283 spermatogenesis", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q9BXA6-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IWX7-1", "uniprot_id": [ { "id": "UN45B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IWX7", "type": "external" } ], "mass": 103733.0, "length": 931, "protein_name": "Protein unc-45 homolog B", "gene_name": "UNC45B", "organism": "Human", "refseq_name": "protein unc-45 homolog B isoform 2", "refseq_ac": [ { "id": "NP_001028748", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028748", "type": "external" } ], "gene_names_uniprotkb": "UNC45B; CMYA4; UNC45", "gene_names_refseq": "CMYA4; CTRCT43; MFM11; SMUNC45; UNC-45B; UNC45B; UNC45", "protein_names_uniprotkb": "Protein unc-45 homolog B; SMUNC45; Unc-45B", "protein_names_refseq": "cardiomyopathy associated 4; protein unc-45 homolog B isoform 2; protein unc-45 homolog B; striated muscle UNC45", "tax_id": 9606, "disease": "myofibrillar myopathy 11 (Disease Ontology:DOID:0081338); cataract 43 (Disease Ontology:DOID:0110259)", "pathway": " (hsa:146862)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "12356907;16959974;17369820;23481700;24549050;25418920;25436418;26992070;27920218;29393594;31852522;32357974;32387766;32938616;33217308;33298915;35051231;35580925;36215666;37295424", "class_list": "", "function": "Acts as a co-chaperone for HSP90 and is required for proper folding of the myosin motor domain. Plays a role in sarcomere formation during muscle cell development. Is necessary for normal early lens development., [UniProtKB, UniProtKB, UniProtKB]; Cardiac myofibrillogenesis is spatiotemporally modulated by the molecular chaperone UNC45B., [RefSeq, PubMed]; Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores., [RefSeq, PubMed]; Temperature-dependent structural changes in the UCS chaperone domain of UNC-45B that occur within a physiologically relevant heat-shock range., [RefSeq, PubMed]; This gene encodes a co-chaperone required for folding and accumulation of type II myosins. The protein consists of three tetratricopeptide repeat motifs at the N-terminus that form a complex with heat shock protein 90, a central region of unknown function that is conserved in all Unc-45 proteins, and a C-terminal Unc-45/Cro1/She4 domain. The protein is expressed at high levels in striated muscle, where its muscle myosin chaperone activity is dependent on heat shock protein 90 acting as a co-chaperone. A missense mutation in this gene has been associated with cataract development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]., [RefSeq]; We have characterized a human UNC45B mutation in a Danish family with autosomal dominant cataract developing in early childhood., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q495Q8;Q495Q9", "ec_number_list": [], "go_molecular_function": "GO:0051879 Hsp90 protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm;GO:0030018 Z disc;GO:0031672 A band", "go_biological_process": "GO:0030154 cell differentiation;GO:0007517 muscle organ development;GO:0006457 protein folding;GO:0002088 lens development in camera-type eye", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q8IWX7-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q93008-1", "uniprot_id": [ { "id": "USP9X_HUMAN", "url": "https://www.uniprot.org/uniprot/Q93008", "type": "external" } ], "mass": 290463.0, "length": 2554, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 9X", "gene_name": "USP9X", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 9X isoform 3", "refseq_ac": [ { "id": "NP_001034679", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034679", "type": "external" } ], "gene_names_uniprotkb": "USP9X; DFFRX; FAM; USP9", "gene_names_refseq": "DFFRX; FAF-X; FAF; FAM; MRX99; MRXS99F; USP9X; XLID99; hFAM", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 9X; 3.4.19.12; Deubiquitinating enzyme FAF-X; Fat facets in mammals; Fat facets protein-related, X-linked; Ubiquitin thioesterase FAF-X; Ubiquitin-specific protease 9, X chromosome; Ubiquitin-specific-processing protease FAF-X; hFAM", "protein_names_refseq": "Drosophila fat facets related, X-linked; deubiquitinating enzyme FAF-X; fat facets in mammals; fat facets protein related, X-linked; fat facets-like, X-linked; probable ubiquitin carboxyl-terminal hydrolase FAF-X; ubiquitin carboxyl-terminal hydrolase 9X isoform 3; ubiquitin carboxyl-terminal hydrolase 9X; ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila); ubiquitin thioesterase FAF-X; ubiquitin thiolesterase FAF-X; ubiquitin-specific processing protease FAF-X; ubiquitin-specific protease 9, X chromosome", "tax_id": 9606, "disease": "female-restricted syndromic X-linked intellectual disability 99 (Disease Ontology:DOID:0112025); non-syndromic X-linked intellectual disability 99 (Disease Ontology:DOID:0112026)", "pathway": " (hsa:8239); (R-HSA-2173795); (R-HSA-5689880); (R-HSA-8866652); (R-HSA-9013420); (R-HSA-9013424); (R-HSA-9033241); (R-HSA-977225)", "pathway_count": 8, "publication_count": 332, "publication_id_list": "10022913;10097139;10197981;10199400;10319874;10391242;10411933;10444327;10485843;10531062;10535941;10549282;10562279;10583407;10587642;10587654;10673331;10956649;10982817;11101887;11237011;11278841;11389444;11401442;11427533;11459829;11466336;11467836;11546814;11566882;11590439;11781871;118839;11923872;11931631;12454989;12456682;12559034;12578380;1270801;12717447;12885776;12917689;12917691;14506261;14521508;14567678;14661020;14742711;15053880;15064394;15350535;15545321;15556869;15592455;15820681;15858711;15916963;15962837;16142244;16156666;16174740;16214042;16322459;16751101;16751102;16799559;16854980;16901786;16964243;16964248;17007944;17081983;17290220;17322306;17355222;17425515;17438144;17443180;17504809;17510063;17580310;17591695;17592128;17597759;17693683;17726030;17873522;17980597;17981138;18065497;18070888;18172164;18254724;18353650;18359941;1837051;18449172;18452278;18467330;18484335;1849145;18568018;18632802;18636086;18669648;18691976;18712838;18767875;19011241;19015242;19064640;19135894;19188362;19197237;19208625;19363159;19398555;19413330;19424180;19584060;19632994;19651622;19658395;19664994;19690332;19828817;19838211;19874889;19910467;19917253;20068231;20096447;20178365;20228808;20368735;20501646;20547754;20676056;20807650;21095583;2118650;21239494;21362556;21406692;21508312;21554508;21565175;21571647;21596315;21659512;21849505;2195544;21962518;21976670;21980954;22002062;22029577;22045334;22057399;22065755;22085928;22128162;22131221;22216260;22339630;22371489;22747494;22898188;23159851;23186163;23395819;23481700;23486064;23813966;23824326;23825189;23963456;24056413;2409350;24235149;24260525;24493797;24607389;24833601;24865970;24893886;24896179;25016021;25197364;25305019;25523424;25538232;25578727;25645385;25854684;25944111;26018760;26086376;26138649;26220973;26235645;26344566;26375851;26417681;26598551;26598620;26668317;26686862;26728094;26807092;26833328;27153775;27597759;27600516;27920218;279930;28063628;28218747;28228285;28510447;28514659;28521612;28611990;28765278;28787099;28832583;28834231;28855257;28860189;2900981;29242379;29393594;29508533;29577978;29626158;29632046;29632711;29769354;29786170;30315122;3035556;30379171;30524438;3053705;3080684;30833945;30914461;3094007;31154438;3142462;31530632;31848261;31871319;31937595;31998317;32157095;32161166;32387766;32737221;32897882;32938616;32983136;33298915;33378666;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34404733;34405274;34509645;34561969;34725712;34932366;35051231;35138101;35251023;35318648;35580925;36010968;36215666;36241641;36284347;3675579;37030295;37217939;37260183;37314216;37454738;37938771;38665916;39075342;40914422;6277905;6305978;7578059;7719337;7790377;7851534;8010951;8033412;8097946;8114934;8159701;8464497;8490014;8824437;8858165;8870004;8922996;8991089;9006323;9054935;9090381;9090382;9090383;9521656;9539740;9653144;9668159;9778532;9837948;9862427", "class_list": "", "function": "Deubiquitinase USP9X loss sensitizes renal cancer cells to mTOR inhibition., [RefSeq, PubMed]; Deubiquitinase USP9X stabilizes RNA m[6]A demethylase ALKBH5 and promotes acute myeloid leukemia cell survival., [RefSeq, PubMed]; Deubiquitinase involved both in the processing of ubiquitin precursors and of ubiquitinated proteins (PubMed:18254724, PubMed:19135894, PubMed:22371489, PubMed:25944111, PubMed:29626158, PubMed:30914461, PubMed:37454738). May therefore play an important regulatory role at the level of protein turnover by preventing degradation of proteins through the removal of conjugated ubiquitin (PubMed:18254724, PubMed:19135894, PubMed:22371489, PubMed:25944111, PubMed:29626158, PubMed:30914461, PubMed:37454738). Specifically hydrolyzes 'Lys-11'-, followed by 'Lys-63'-, 'Lys-48'- and 'Lys-6'-linked polyubiquitins chains (PubMed:30914461). Essential component of TGF-beta/BMP signaling cascade (PubMed:19135894). Specifically deubiquitinates monoubiquitinated SMAD4, opposing the activity of E3 ubiquitin-protein ligase TRIM33 (PubMed:19135894). Deubiquitinates alkylation repair enzyme ALKBH3 (PubMed:25944111). OTUD4 recruits USP7 and USP9X to stabilize ALKBH3, thereby promoting the repair of alkylated DNA lesions (PubMed:25944111). Deubiquitinates RNA demethylase enzyme ALKBH5, promoting its stability (PubMed:37454738). Deubiquitinates mTORC2 complex component RICTOR at 'Lys-294' by removing 'Lys-63'-linked polyubiquitin chains, stabilizing RICTOR and enhancing its binding to MTOR, thus promoting mTORC2 complex assembly (PubMed:33378666). Regulates chromosome alignment and segregation in mitosis by regulating the localization of BIRC5/survivin to mitotic centromeres (PubMed:16322459). Involved in axonal growth and neuronal cell migration (PubMed:24607389). Regulates cellular clock function by enhancing the protein stability and transcriptional activity of the core circadian protein BMAL1 via its deubiquitinating activity (PubMed:29626158). Acts as a regulator of peroxisome import by mediating deubiquitination of PEX5: specifically deubiquitinates PEX5 monoubiquitinated at 'Cys-11' following its retrotranslocation into the cytosol, resetting PEX5 for a subsequent import cycle (PubMed:22371489). Deubiquitinates PEG10 (By similarity). Inhibits the activation of the Hippo signaling pathway via deubiquitination of AMOTL2 at 'Lys-347' and 'Lys-408' which prohibits its interaction with and activation of LATS2. Loss of LATS2 activation and subsequent loss of YAP1 phosphorylation results in an increase in YAP1-driven transcription of target genes (PubMed:26598551, PubMed:34404733)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; FAM associates with E-cadherin and beta-catenin during trafficking to the plasma membrane, [RefSeq, PubMed]; This gene is a member of the peptidase C19 family and encodes a protein that is similar to ubiquitin-specific proteases. Though this gene is located on the X chromosome, it escapes X-inactivation. Mutations in this gene have been associated with Turner syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]., [RefSeq]; USP9X deubiquitinates and stabilizes CDC123 to promote breast carcinogenesis through regulating cell cycle., [RefSeq, PubMed]; USP9X mediates an acute adaptive response to MAPK suppression in pancreatic cancer but creates multiple actionable therapeutic vulnerabilities., [RefSeq, PubMed]; USP9X regulates the proliferation, survival, migration and invasion of gastric cancer cells by stabilizing MTH1. 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": 15, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 40, "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": "O75550;Q8WWT3;Q8WX12", "ec_number_list": [ { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" } ], "go_molecular_function": "GO:0070410 co-SMAD binding;GO:0004197 cysteine-type endopeptidase activity;GO:0008234 cysteine-type peptidase activity;GO:0004843 cysteine-type deubiquitinase activity;GO:0061578 K63-linked deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005929 cilium", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0007059 chromosome segregation;GO:0016477 cell migration;GO:0016579 protein deubiquitination;GO:0032092 positive regulation of protein binding", "synthesized_glycan_count": 0, "hit_score": 33.5, "record_id": "Q93008-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75554-1", "uniprot_id": [ { "id": "WBP4_HUMAN", "url": "https://www.uniprot.org/uniprot/O75554", "type": "external" } ], "mass": 42507.0, "length": 376, "protein_name": "WW domain-binding protein 4", "gene_name": "WBP4", "organism": "Human", "refseq_name": "WW domain-binding protein 4", "refseq_ac": [ { "id": "NP_009118", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009118", "type": "external" } ], "gene_names_uniprotkb": "WBP4; FBP21; FNBP21", "gene_names_refseq": "FBP21; NEDHFDB; WBP4", "protein_names_uniprotkb": "WW domain-binding protein 4; Formin-binding protein 21; WBP-4; WW domain-containing-binding protein 4", "protein_names_refseq": "WBP-4; WW domain-binding protein 4; WW domain-containing binding protein 4; domain-containing binding protein 4; formin binding protein 21", "tax_id": 9606, "disease": "neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities (MONDO:MONDO:0971043)", "pathway": " (hsa:11193); (R-HSA-72163)", "pathway_count": 2, "publication_count": 118, "publication_id_list": "10882114;11014198;11101529;11233976;11991638;12176931;12411573;12414731;12477934;14625303;14713954;16314458;16809785;16959974;17081983;17095540;17332742;17606899;18322460;18593880;19103666;19165350;19536130;19592703;19651622;20068231;20423332;20980672;21406692;21536652;2176635;22110043;22365833;22959432;22961380;23186163;23222130;23236153;23345524;24196718;24275569;24304693;24448447;24737827;24914973;25555158;25576301;2558966;26154972;26385511;26420826;26969736;27377154;27459055;27683217;28062851;28063628;28076346;28502770;28649982;28781166;28832583;28904123;29242379;29301961;29360106;29361316;29393594;29557506;29632046;2963332;30315277;30429286;30558886;30705154;30728453;30765414;30975767;31154438;31222486;31373491;31409651;31530632;31844290;31848261;32157095;32179686;32265295;32329775;32357974;32387766;32494006;32938616;33243851;33446560;33968037;33981976;34301950;34822310;35051231;35241646;35385551;36284347;3757028;37963460;38665916;40307207;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9724750;9731529", "class_list": "", "function": "FBP21's C-Terminal Domain Remains Dynamic When Wrapped around the c-Sec63 Unit of Brr2 Helicase, [RefSeq, PubMed]; Involved in pre-mRNA splicing as a component of the spliceosome (PubMed:19592703, PubMed:28781166, PubMed:9724750). May play a role in cross-intron bridging of U1 and U2 snRNPs in the mammalian A complex (PubMed:9724750)., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes WW domain-containing binding protein 4. The WW domain represents a small and compact globular structure that interacts with proline-rich ligands. This encoded protein is a general spliceosomal protein that may play a role in cross-intron bridging of U1 and U2 snRNPs in the spliceosomal complex A. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 15, "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": "B7Z4M2;Q32P29", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0070064 proline-rich region binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0071011 precatalytic spliceosome;GO:0071005 U2-type precatalytic spliceosome", "go_biological_process": "GO:0008380 RNA splicing;GO:0000398 mRNA splicing, via spliceosome;GO:0045292 mRNA cis splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 12.2, "record_id": "O75554-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q969S8-1", "uniprot_id": [ { "id": "HDA10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q969S8", "type": "external" } ], "mass": 71445.0, "length": 669, "protein_name": "Polyamine deacetylase HDAC10", "gene_name": "HDAC10", "organism": "Human", "refseq_name": "polyamine deacetylase HDAC10 isoform 2", "refseq_ac": [ { "id": "NP_001152758", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001152758", "type": "external" } ], "gene_names_uniprotkb": "HDAC10", "gene_names_refseq": "HD10; HDAC10", "protein_names_uniprotkb": "Polyamine deacetylase HDAC10; 3.5.1.48; 3.5.1.62; HD10; Histone deacetylase 10", "protein_names_refseq": "polyamine deacetylase HDAC10 isoform 2; polyamine deacetylase HDAC10", "tax_id": 9606, "disease": "", "pathway": " (hsa:83933); (R-HSA-2122947); (R-HSA-2644606); (R-HSA-2894862); (R-HSA-3214815); (R-HSA-350054); (R-HSA-9976102)", "pathway_count": 7, "publication_count": 133, "publication_id_list": "10206645;10444591;10449787;10713164;10748112;10879540;10882063;10904264;10922406;10926844;10964718;11006133;11044625;11112321;11237011;11461910;11509652;11585921;11677242;11726666;11739383;11740940;11742974;11861901;11909966;12032298;12050117;12209127;12354787;12374742;12391150;12530964;12724404;14759258;14980219;15107403;15546612;15574878;15760269;15824097;15829515;16093323;16256737;16530044;16530045;16738328;16751179;17003037;17114293;17157496;17211407;17401372;17646408;17646409;18043734;18077452;18094723;18296446;18374649;18477386;18824583;18824585;19151708;19524514;19726682;20972443;21247901;21587264;23481700;23801752;24275569;25576301;25645385;26101246;26221039;26992070;27600516;28228285;28516954;28832583;28834231;29242379;29508533;29557506;29968769;30429286;30524438;31092671;31285420;31844290;31937595;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33481334;33493381;33592498;33912179;33968037;33981976;34509645;34932366;35051231;35143520;35580925;36010968;36241641;36284347;37657752;7513682;7566092;7588063;8001118;8649374;8687460;9150135;9244301;9315665;9462510;9604939;9620803;9651585;9651681;9694793;9790534;9819428", "class_list": "", "function": "Another histone deacetylase, [RefSeq, PubMed]; Histone deacetylase 10 exerts antitumor effects on cervical cancer via a novel microRNA-223/TXNIP/Wnt/beta-catenin pathway., [RefSeq, PubMed]; Knockdown of HDAC10 inhibits POLE2-mediated DNA damage repair in NSCLC cells by increasing SP1 acetylation levels., [RefSeq, PubMed]; Molecular cloning and characterization of a novel class II histone deacetylase, [RefSeq, PubMed]; Oncogenic miRNA-1908 targets HDAC10 and promotes the aggressive phenotype of cervical cancer cell., [RefSeq, PubMed]; Polyamine deacetylase (PDAC), which acts preferentially on N(8)-acetylspermidine, and also on acetylcadaverine and acetylputrescine (PubMed:28516954). Exhibits attenuated catalytic activity toward N(1),N(8)-diacetylspermidine and very low activity, if any, toward N(1)-acetylspermidine (PubMed:28516954). Histone deacetylase activity has been observed in vitro (PubMed:11677242, PubMed:11726666, PubMed:11739383, PubMed:11861901). Has also been shown to be involved in MSH2 deacetylation (PubMed:26221039). The physiological relevance of protein/histone deacetylase activity is unclear and could be very weak (PubMed:28516954). May play a role in the promotion of late stages of autophagy, possibly autophagosome-lysosome fusion and/or lysosomal exocytosis in neuroblastoma cells (PubMed:23801752, PubMed:29968769). May play a role in homologous recombination (PubMed:21247901). May promote DNA mismatch repair (PubMed:26221039)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Short communication: TNF-alpha and IGF-1 regulates epigenetic mechanisms of HDAC2 and HDAC10. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the histone deacetylase family, members of which deacetylate lysine residues on the N-terminal part of the core histones. Histone deacetylation modulates chromatin structure, and plays an important role in transcriptional regulation, cell cycle progression, and developmental events. 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q08AP4;Q6STF9;Q96P77;Q96P78;Q9H028;Q9UGX1;Q9UGX2", "ec_number_list": [ { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.98", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "2.1.1.364", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.364", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.57", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.57", "type": "external" }, { "id": "3.5.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.48", "type": "external" }, { "id": "3.5.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.62", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0019899 enzyme binding;GO:0042826 histone deacetylase binding;GO:0019213 deacetylase activity;GO:0004407 histone deacetylase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000118 histone deacetylase complex", "go_biological_process": "GO:0032425 positive regulation of mismatch repair;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006281 DNA repair;GO:0006355 regulation of DNA-templated transcription;GO:0016236 macroautophagy", "synthesized_glycan_count": 0, "hit_score": 13.4, "record_id": "Q969S8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UK96-1", "uniprot_id": [ { "id": "FBX10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UK96", "type": "external" } ], "mass": 105195.0, "length": 956, "protein_name": "F-box only protein 10", "gene_name": "FBXO10", "organism": "Human", "refseq_name": "F-box only protein 10", "refseq_ac": [ { "id": "NP_036298", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036298", "type": "external" } ], "gene_names_uniprotkb": "FBXO10; FBX10; PRMT11", "gene_names_refseq": "FBX10; FBXO10; PRMT11", "protein_names_uniprotkb": "F-box only protein 10", "protein_names_refseq": "F-box only protein 10; F-box protein Fbx10", "tax_id": 9606, "disease": "", "pathway": " (hsa:26267); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 159, "publication_id_list": "10531035;10531037;10535940;10597293;10811609;10878807;10973499;11062501;11069780;11237011;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22959436;23138933;23201271;23333871;23401859;23431138;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24613396;24636985;24715725;24793695;24793696;25314029;25349211;25355947;25531226;26187670;26344709;26460955;26632597;26906416;26992070;27030794;27222660;27565346;27846572;28115426;28515150;28904123;29153394;29242379;29437277;29557506;30429286;30610225;31570756;31844290;31848261;32005965;32161166;32265295;32284348;32488085;33298915;33444648;33592498;33717175;33912179;33936100;33968037;33981976;34357683;35051231;35494241;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "FBXO10, a protein related to DRE-1, binds BCL2 and promotes its degradation, thereby initiating cell death. Moreover, some diffuse large B-cell lymphomas have inactivating mutations in FBXO10 or express FBXO10 at low levels., [RefSeq, PubMed]; Higher Fbxo10 expression in T cells is associated with Mcs5a increased susceptibility alleles, [RefSeq, PubMed]; Members of the F-box protein family, such as FBXO10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]., [RefSeq]; Recent BCR stimulation induces a negative autoregulatory loop via FBXO10 mediated degradation of HGAL., [RefSeq, PubMed]; SiRNA-mediated knockdown of FBXO11 facilitated HIF-1alpha expression in various cancer cells and HIF-1alpha-driven gene expressions, but the FBXO10 knockdown did not., [RefSeq, PubMed]; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Mediates the ubiquitination and degradation of BCL2, an antiapoptotic protein, thereby playing a role in apoptosis by controlling the stability of BCL2. Targets also the receptor for advanced glycation end products RAGE for ubiquitination and subsequent lysosomal degradation (PubMed:28515150). Directly controls HGAL/GCSAM ubiquitination and degradation and thereby decreases BCR signaling (PubMed:31570756)., [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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q08AL3;Q08AL4;Q5JRT8;Q9UKC3", "ec_number_list": [], "go_molecular_function": "GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000151 ubiquitin ligase complex", "go_biological_process": "GO:0006915 apoptotic process;GO:0016567 protein ubiquitination;GO:0042981 regulation of apoptotic process;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 16.0, "record_id": "Q9UK96-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P63146-1", "uniprot_id": [ { "id": "UBE2B_HUMAN", "url": "https://www.uniprot.org/uniprot/P63146", "type": "external" } ], "mass": 17312.0, "length": 152, "protein_name": "Ubiquitin-conjugating enzyme E2 B", "gene_name": "UBE2B", "organism": "Human", "refseq_name": "ubiquitin-conjugating enzyme E2 B", "refseq_ac": [ { "id": "NP_003328", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003328", "type": "external" } ], "gene_names_uniprotkb": "UBE2B; RAD6B; UBCH1", "gene_names_refseq": "E2-17kDa; HHR6B; HR6B; RAD6B; UBC2; UBE2B", "protein_names_uniprotkb": "Ubiquitin-conjugating enzyme E2 B; 2.3.2.23; E2 ubiquitin-conjugating enzyme B; HR6B; RAD6 homolog B; Ubiquitin carrier protein B; Ubiquitin-conjugating enzyme E2-17 kDa; Ubiquitin-protein ligase B; hHR6B", "protein_names_refseq": "E2 protein; E2 ubiquitin-conjugating enzyme B; RAD6 homolog B; ubiquitin carrier protein B; ubiquitin conjugating enzyme E2B; ubiquitin-conjugating enzyme E2 B; ubiquitin-conjugating enzyme E2-17 kDa; ubiquitin-conjugating enzyme E2B (RAD6 homolog); ubiquitin-protein ligase B", "tax_id": 9606, "disease": "syndromic intellectual disability (Disease Ontology:DOID:0050888); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); congenital heart disease (Disease Ontology:DOID:1682)", "pathway": " (hsa:7320); (R-HSA-110314); (R-HSA-8866652); (R-HSA-8866654); (R-HSA-983168)", "pathway_count": 5, "publication_count": 159, "publication_id_list": "10562279;10908344;11062501;11237011;11350924;11740563;11885984;12226657;12646216;14734113;15215855;15215856;15224091;15224092;15571818;15916957;16142244;16307923;16337599;16531995;16595681;16849449;16868077;16954532;17108083;17130289;1717990;17580310;17597759;17720710;17726030;18316726;18342608;18353650;18359941;18662542;18719106;1883845;19028597;19208625;19352404;19410543;19452197;19489725;19723507;19851334;19874575;19940261;20061386;20068231;20129063;21041297;21203937;21329877;21396873;21554508;2158443;22021426;22424782;22544926;2261476;23000965;23481700;23783831;24366607;24662292;24715725;24768535;24807418;24979766;25030448;25170678;25418920;25576301;25645385;25936802;26086376;26154972;26210183;26216882;26235645;26344566;26350214;26375851;26711259;26992070;27569044;27597759;27600516;27798111;27862975;28228285;28832583;28860189;28904123;29242379;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30429286;30524438;30779550;31154438;31222486;31844290;31848261;31937595;31998317;32157095;32265295;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33181138;33298915;33392160;33537174;33592498;33633747;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;35051231;35313791;35561310;35580925;36010968;36162503;36215666;36241641;36284347;37938771;38182926;6277905;6305978;7851534;8010951;8062904;8625414;8991089;9380723;9521656;9668046", "class_list": "", "function": "E2 ubiquitin-conjugating enzyme that accepts ubiquitin from the ubiquitin-activating enzyme E1 and transfers it to a E3 ubiquitin-protein ligase (PubMed:16337599, PubMed:17108083, PubMed:17130289, PubMed:1717990, PubMed:20061386). In vitro catalyzes 'Lys-11'-, as well as 'Lys-48'- and 'Lys-63'-linked polyubiquitination (PubMed:20061386). Together with the E3 enzyme BRE1 (RNF20 and/or RNF40), plays a role in transcription regulation by catalyzing the monoubiquitination of histone H2B at 'Lys-120' to form H2BK120ub1 (PubMed:16337599). H2BK120ub1 gives a specific tag for epigenetic transcriptional activation, elongation by RNA polymerase II, telomeric silencing, and is also a prerequisite for H3K4me and H3K79me formation (PubMed:16337599). May play a role in DNA repair (PubMed:8062904). Associates to the E3 ligase RAD18 to form the UBE2B-RAD18 ubiquitin ligase complex involved in mono-ubiquitination of DNA-associated PCNA on 'Lys-164' (PubMed:17108083, PubMed:17130289). In association with the E3 enzyme UBR4, is involved in N-end rule-dependent protein degradation (PubMed:38182926). May be involved in neurite outgrowth (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Mutations of Rad6 E2 ubiquitin-conjugating enzymes at alanine-126 in helix-3 affect ubiquitination activity and decrease enzyme stability., [RefSeq, PubMed]; RAD6B Loss Disrupts Expression of Melanoma Phenotype in Part by Inhibiting WNT/beta-Catenin Signaling., [RefSeq, PubMed]; The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is required for post-replicative DNA damage repair. Its protein sequence is 100% identical to the mouse, rat, and rabbit homologs, which indicates that this enzyme is highly conserved in eukaryotic evolution. [provided by RefSeq, Jul 2008]., [RefSeq]; UBE2B promotes ovarian cancer growth via promoting RAD18 mediated ZMYM2 monoubiquitination and stabilization., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R503;D3DQA2;P23567;Q4PJ15;Q9D0J6", "ec_number_list": [ { "id": "6.2.1.45", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.45", "type": "external" }, { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "2.3.2.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.34", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "6.2.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.64", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0031625 ubiquitin protein ligase binding;GO:0004842 ubiquitin-protein transferase activity;GO:0061631 ubiquitin conjugating enzyme activity;GO:0019787 ubiquitin-like protein transferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0000785 chromatin", "go_biological_process": "GO:0006281 DNA repair;GO:0007283 spermatogenesis;GO:0006974 DNA damage response;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0050821 protein stabilization", "synthesized_glycan_count": 0, "hit_score": 16.0, "record_id": "P63146-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P11801-1", "uniprot_id": [ { "id": "KPSH1_HUMAN", "url": "https://www.uniprot.org/uniprot/P11801", "type": "external" } ], "mass": 48035.0, "length": 424, "protein_name": "Serine/threonine-protein kinase H1", "gene_name": "PSKH1", "organism": "Human", "refseq_name": "serine/threonine-protein kinase H1", "refseq_ac": [ { "id": "NP_006733", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006733", "type": "external" } ], "gene_names_uniprotkb": "PSKH1", "gene_names_refseq": "PFIC13; PSKH1", "protein_names_uniprotkb": "Serine/threonine-protein kinase H1; 2.7.11.1; PSK-H1; Protein serine kinase H1", "protein_names_refseq": "PSK-H1; serine/threonine-protein kinase H1", "tax_id": 9606, "disease": "cholestasis, progressive familial intrahepatic, 13 (MONDO:MONDO:0975807)", "pathway": " (hsa:5681)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11087665;11237011;12466556;14644153;17344846;29242379;2948189;31154438;31844290;32053275;32387766;35051231;39132680;39531497", "class_list": "", "function": "Cataloguing the dead: breathing new life into pseudokinase research. Review article, [RefSeq, PubMed]; Serine/threonine protein kinase that may be involved in the regulation of pre-mRNA processing. It may phosphorylate components of nuclear splice factor compartments (SFC), such as non-snRNP splicing factors containing a serine/arginine-rich domain (SR proteins). Reversible phosphorylation of SR proteins may cause their release into the nucleoplasm and change their local concentration, thereby influencing alternative splicing., [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": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 10, "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": "Q9NY19", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "P11801-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BYZ2-1", "uniprot_id": [ { "id": "LDH6B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BYZ2", "type": "external" } ], "mass": 41943.0, "length": 381, "protein_name": "L-lactate dehydrogenase A-like 6B", "gene_name": "LDHAL6B", "organism": "Human", "refseq_name": "L-lactate dehydrogenase A-like 6B", "refseq_ac": [ { "id": "NP_149972", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149972", "type": "external" } ], "gene_names_uniprotkb": "LDHAL6B; LDHAL6; LDHL", "gene_names_refseq": "LDH6B; LDHAL6B; LDHAL6; LDHL", "protein_names_uniprotkb": "L-lactate dehydrogenase A-like 6B; 1.1.1.27", "protein_names_refseq": "L-lactate dehydrogenase A-like 6B; lactate dehydrogenase A-like 6; testicular tissue protein Li 105", "tax_id": 9606, "disease": "disease of metabolism (Disease Ontology:DOID:0014667)", "pathway": " (hsa:92483); (R-HSA-70268)", "pathway_count": 2, "publication_count": 47, "publication_id_list": "11276087;11377399;11863375;11945601;12121650;12962632;14596586;15551868;15870898;18351441;1931970;1935931;19615748;19679512;1993674;1996957;20068231;20800603;20877624;21156174;22628558;23284632;2440048;24998673;25202825;25575590;25594249;27166188;27317664;29472561;29557506;29632711;30379171;31844290;32403431;33064660;3435492;35154160;36241641;36417180;37938771;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., [UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6DUY4;Q96LI2", "ec_number_list": [ { "id": "1.1.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.27", "type": "external" } ], "go_molecular_function": "GO:0004459 L-lactate dehydrogenase (NAD+) activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0019244 lactate biosynthetic process from pyruvate;GO:0006089 lactate metabolic process;GO:0042867 pyruvate catabolic process", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q9BYZ2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WUT4-1", "uniprot_id": [ { "id": "LRRN4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WUT4", "type": "external" } ], "mass": 78843.0, "length": 740, "protein_name": "Leucine-rich repeat neuronal protein 4", "gene_name": "LRRN4", "organism": "Human", "refseq_name": "leucine-rich repeat neuronal protein 4 precursor", "refseq_ac": [ { "id": "NP_689824", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689824", "type": "external" } ], "gene_names_uniprotkb": "LRRN4; C20orf75", "gene_names_refseq": "C20orf75; LRRN4; NLRR-4; NLRR4; dJ1056H1.1", "protein_names_uniprotkb": "Leucine-rich repeat neuronal protein 4; NLRR-4; Neuronal leucine-rich repeat protein 4", "protein_names_refseq": "leucine-rich repeat neuronal protein 4 precursor; leucine-rich repeat neuronal protein 4; neuronal leucine-rich repeat protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:164312)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;11237011;21984916;23584533;25813380;29557506;30459171;31844290;32157095;32387766;32488085;32502341;32938616;33141586;35051231;35580925;37074911", "class_list": "", "function": "LRRN4 was only detected in primary mesothelial cells, but MSLN and UPK3B were also detected in other cell types., [RefSeq, PubMed]; May play an important role in hippocampus-dependent long-lasting memory., [UniProtKB]", "predicted_glycosites": 5, "predicted_n_glycosites": 5, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 37, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 0, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "A8K258;Q5JWV6;Q9H419", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007616 long-term memory", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q8WUT4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96S53-1", "uniprot_id": [ { "id": "TESK2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96S53", "type": "external" } ], "mass": 63639.0, "length": 571, "protein_name": "Dual specificity testis-specific protein kinase 2", "gene_name": "TESK2", "organism": "Human", "refseq_name": "dual specificity testis-specific protein kinase 2 isoform 2", "refseq_ac": [ { "id": "NP_001307729", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307729", "type": "external" } ], "gene_names_uniprotkb": "TESK2", "gene_names_refseq": "TESK2", "protein_names_uniprotkb": "Dual specificity testis-specific protein kinase 2; 2.7.12.1; Testicular protein kinase 2", "protein_names_refseq": "dual specificity testis-specific protein kinase 2 isoform 2; dual specificity testis-specific protein kinase 2; testicular protein kinase 2; testis-specific kinase 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:10420)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "10512679;11418599;17344846;23186163;24275569;29242379;29557506;30429286;31844290;32387766;32938616;33968037;34509645;35051231;35440018;36010968;36284347", "class_list": "", "function": "Dual specificity protein kinase activity catalyzing autophosphorylation and phosphorylation of exogenous substrates on both serine/threonine and tyrosine residues. Phosphorylates cofilin at 'Ser-3'. May play an important role in spermatogenesis., [UniProtKB]; Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12. Publication Status: Online-Only, [RefSeq, PubMed]; This gene product is a serine/threonine protein kinase that contains an N-terminal protein kinase domain that is structurally similar to the kinase domains of testis-specific protein kinase-1 and the LIM motif-containing protein kinases (LIMKs). Its overall structure is most related to the former, indicating that it belongs to the TESK subgroup of the LIMK/TESK family of protein kinases. This gene is predominantly expressed in testis and prostate. The developmental expression pattern of the rat gene in testis suggests an important role for this gene in meitoic stages and/or early stages of spermiogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q5T422;Q5T423;Q8N520;Q9Y3Q6", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0004713 protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0007283 spermatogenesis;GO:0030036 actin cytoskeleton organization;GO:0048041 focal adhesion assembly", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q96S53-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WWQ2-1", "uniprot_id": [ { "id": "HPSE2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WWQ2", "type": "external" } ], "mass": 66596.0, "length": 592, "protein_name": "Inactive heparanase-2", "gene_name": "HPSE2", "organism": "Human", "refseq_name": "inactive heparanase-2 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001159716", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159716", "type": "external" } ], "gene_names_uniprotkb": "HPSE2; HPA2", "gene_names_refseq": "HPA2; HPR2; HPSE2; UFS1; UFS", "protein_names_uniprotkb": "Inactive heparanase-2; Hpa2", "protein_names_refseq": "heparanase 3; heparanase-like protein; inactive heparanase-2 isoform 2 precursor; inactive heparanase-2", "tax_id": 9606, "disease": "urofacial syndrome (Disease Ontology:DOID:0050816)", "pathway": " (hsa:60495); (R-HSA-2024096)", "pathway_count": 2, "publication_count": 33, "publication_id_list": "10446189;10466419;11027606;11237011;11446407;12213822;12441129;12927802;15647514;16151907;16960811;17033958;1946389;19669792;19839856;20560209;20560210;20576607;20650889;2122463;21332471;25576301;30315122;32387766;32983136;35051231;36122821;36980254;38519456;38990208;7493035;8776591;9285796", "class_list": "glycogene;glycosylhydrolase", "function": "Binds heparin and heparan sulfate with high affinity, but lacks heparanase activity. Inhibits HPSE, possibly by competing for its substrates (in vitro)., [UniProtKB, PubMed]; Effect of HPSE and HPSE2 SNPs on the Risk of Developing Primary Paraskeletal Multiple Myeloma. Publication Status: Online-Only, [RefSeq, PubMed]; Heparanase 2 (Hpa2) attenuates the growth of human sarcoma., [RefSeq, PubMed]; Human HPSE2 gene transfer ameliorates bladder pathophysiology in a mutant mouse model of urofacial syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Nuclear localization of heparanase 2 (Hpa2) attenuates breast carcinoma growth and metastasis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a heparanase enzyme. The encoded protein is a endoglycosidase that degrades heparin sulfate proteoglycans located on the extracellular matrix and cell surface. This protein may be involved in biological processes involving remodeling of the extracellular matrix including angiogenesis and tumor progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 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": 744, "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": "Q5VUH4;Q5VUH5;Q5VUH6;Q8WWQ1;Q9HB37;Q9HB38;Q9HB39", "ec_number_list": [], "go_molecular_function": "GO:0043395 heparan sulfate proteoglycan binding;GO:0030305 heparanase activity;GO:0140311 protein sequestering activity;GO:0016798 hydrolase activity, acting on glycosyl bonds", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0031012 extracellular matrix;GO:0016020 membrane", "go_biological_process": "GO:0030198 extracellular matrix organization;GO:0030200 heparan sulfate proteoglycan catabolic process", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q8WWQ2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6X4-1", "uniprot_id": [ { "id": "F169A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6X4", "type": "external" } ], "mass": 74955.0, "length": 670, "protein_name": "Soluble lamin-associated protein of 75 kDa", "gene_name": "FAM169A", "organism": "Human", "refseq_name": "soluble lamin-associated protein of 75 kDa isoform 1", "refseq_ac": [ { "id": "NP_056381", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056381", "type": "external" } ], "gene_names_uniprotkb": "FAM169A; KIAA0888", "gene_names_refseq": "FAM169A; SLAP75; SLAP", "protein_names_uniprotkb": "Soluble lamin-associated protein of 75 kDa; Protein FAM169A; SLAP75", "protein_names_refseq": "Soluble-Lamin Associated Protein; protein FAM169A; soluble lamin-associated protein of 75 kDa isoform 1; soluble lamin-associated protein of 75 kDa; soluble lamina-associated protein of 75 kD", "tax_id": 9606, "disease": "", "pathway": " (hsa:26049); (R-HSA-9035034)", "pathway_count": 2, "publication_count": 28, "publication_id_list": "11237011;16777452;17765681;19690332;20233848;21119010;21406692;22412018;23096567;25576301;25668492;26811146;27278019;27481945;28904123;29242379;29508533;29557506;30429286;31844290;31871319;32157095;32938616;33592498;33912179;33981976;35051231;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": 7, "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": "A8K1T9;Q6MZT0;Q9H989", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0031965 nuclear membrane;GO:0005637 nuclear inner membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q9Y6X4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60741-1", "uniprot_id": [ { "id": "HCN1_HUMAN", "url": "https://www.uniprot.org/uniprot/O60741", "type": "external" } ], "mass": 98796.0, "length": 890, "protein_name": "Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1", "gene_name": "HCN1", "organism": "Human", "refseq_name": "potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1", "refseq_ac": [ { "id": "NP_066550", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066550", "type": "external" } ], "gene_names_uniprotkb": "HCN1; BCNG1", "gene_names_refseq": "BCNG-1; BCNG1; DEE24; EIEE24; GEFSP10; HAC-2; HCN1", "protein_names_uniprotkb": "Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1; BCNG-1; Brain cyclic nucleotide-gated channel 1", "protein_names_refseq": "MUT-D534H potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1; MUT-L400P potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1; MUT-M243delinsTL potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1; brain cyclic nucleotide-gated channel 1; potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 24 (Disease Ontology:DOID:0080429); complex cortical dysplasia with other brain malformations (Disease Ontology:DOID:0090131); generalized epilepsy with febrile seizures plus 10 (Disease Ontology:DOID:0111296); sick sinus syndrome (Disease Ontology:DOID:13884); status epilepticus (Disease Ontology:DOID:1824); childhood absence epilepsy (Disease Ontology:DOID:1825); anxiety disorder (Disease Ontology:DOID:2030); mood disorder (Disease Ontology:DOID:3324); temporal lobe epilepsy (Disease Ontology:DOID:3328); meningitis (Disease Ontology:DOID:9471)", "pathway": " (hsa:348980); (R-HSA-1296061)", "pathway_count": 2, "publication_count": 27, "publication_id_list": "11237011;11328811;15351778;16387796;20068231;23481700;24715725;24747641;25418920;27864847;28086084;28228285;28657654;29351928;29557506;29936235;30351409;30779550;31787376;34429357;34621433;35051231;37217939;37366350;38009841;38890331;9630217", "class_list": "", "function": "Developmental HCN channelopathy results in decreased neural progenitor proliferation and microcephaly in mice., [RefSeq, PubMed]; HCN1 pathogenic variants associated with childhood epilepsy in a cohort of Chinese patients., [RefSeq, PubMed]; Hyperpolarization-activated ion channel that are permeable to sodium and potassium ions (PubMed:15351778, PubMed:28086084). Displays lower selectivity for K(+) over Na(+) ions (PubMed:28086084). Contributes to the native pacemaker currents in heart (If) and in the generation of the I(h) current which controls neuron excitability (PubMed:29936235, PubMed:30351409). Participates in cerebellar mechanisms of motor learning (By similarity). May mediate responses to sour stimuli (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Structural basis for hyperpolarization-dependent opening of human HCN1 channel. Publication Status: Online-Only, [RefSeq, PubMed]; The Impact of Altered HCN1 Expression on Brain Function and Its Relationship with Epileptogenesis. Review article, [RefSeq, PubMed]; The membrane protein encoded by this gene is a hyperpolarization-activated cation channel that contributes to the native pacemaker currents in heart and neurons. The encoded protein can homodimerize or heterodimerize with other pore-forming subunits to form a potassium channel. This channel may act as a receptor for sour tastes. [provided by RefSeq, Oct 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": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 71, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 10, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding;GO:0042802 identical protein binding;GO:0005267 potassium channel activity;GO:0005248 voltage-gated sodium channel activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0048787 presynaptic active zone membrane;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016323 basolateral plasma membrane", "go_biological_process": "GO:0042391 regulation of membrane potential;GO:0051289 protein homotetramerization;GO:0051592 response to calcium ion;GO:0071320 cellular response to cAMP;GO:0086091 regulation of heart rate by cardiac conduction", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "O60741-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NFU5-1", "uniprot_id": [ { "id": "IPMK_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NFU5", "type": "external" } ], "mass": 47222.0, "length": 416, "protein_name": "Inositol polyphosphate multikinase", "gene_name": "IPMK", "organism": "Human", "refseq_name": "inositol polyphosphate multikinase", "refseq_ac": [ { "id": "NP_689416", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689416", "type": "external" } ], "gene_names_uniprotkb": "IPMK; IMPK", "gene_names_refseq": "IPMK", "protein_names_uniprotkb": "Inositol polyphosphate multikinase; 2.7.1.140; 2.7.1.151; 2.7.1.153; Inositol 1,3,4,6-tetrakisphosphate 5-kinase", "protein_names_refseq": "inositol 1,3,4,6-tetrakisphosphate 5-kinase; inositol polyphosphate multikinase", "tax_id": 9606, "disease": "", "pathway": " (hsa:253430); (R-HSA-1855191)", "pathway_count": 2, "publication_count": 63, "publication_id_list": "10827188;11502751;12027805;12084730;12223481;16293229;17412958;17702752;17705785;18355727;18691976;19369195;24366607;25576301;25645385;26154972;26992070;27600516;27846572;27920218;28218747;28228285;28832583;28834231;28882892;29242379;29508533;29557506;29786170;29883610;30379171;30420721;30429286;30624931;30779550;30833945;31154438;31530632;31844290;31848261;32157095;32161166;32357974;32488085;32502341;32897882;32983136;33290695;33497757;33537174;33592498;33968037;33981976;34171305;34185709;34932366;35051231;35318648;35580925;36010968;36284347;36830701;37938771", "class_list": "", "function": "Cloning of a full-length 1248-bp cDNA encoding a human inositol phosphate multikinase (IPMK); localized predominantly in the nucleus when transiently expressed in mammalian cells, [RefSeq, PubMed]; IP6K3 and IPMK variations in LOAD and longevity: Evidence for a multifaceted signaling network at the crossroad between neurodegeneration and survival., [RefSeq, PubMed]; Inositol Polyphosphate Multikinase Inhibits Liquid-Liquid Phase Separation of TFEB to Negatively Regulate Autophagy Activity., [RefSeq, PubMed]; Inositol phosphate kinase with a broad substrate specificity (PubMed:12027805, PubMed:12223481, PubMed:28882892, PubMed:30420721, PubMed:30624931). Phosphorylates inositol 1,4,5-trisphosphate (Ins(1,4,5)P3) first to inositol 1,3,4,5-tetrakisphosphate and then to inositol 1,3,4,5,6-pentakisphosphate (Ins(1,3,4,5,6)P5) (PubMed:12027805, PubMed:12223481, PubMed:28882892, PubMed:30624931). Phosphorylates inositol 1,3,4,6-tetrakisphosphate (Ins(1,3,4,6)P4) (PubMed:12223481). Phosphorylates inositol 1,4,5,6-tetrakisphosphate (Ins(1,4,5,6)P4) (By similarity). Phosphorylates glycero-3-phospho-1D-myo-inositol 4,5-bisphosphate to glycero-3-phospho-1D-myo-inositol 3,4,5-trisphosphate (PubMed:28882892, PubMed:30420721). Plays an important role in MLKL-mediated necroptosis via its role in the biosynthesis of inositol pentakisphosphate (InsP5) and inositol hexakisphosphate (InsP6). Binding of these highly phosphorylated inositol phosphates to MLKL mediates the release of an N-terminal auto-inhibitory region, leading to activation of the kinase. Essential for activated phospho-MLKL to oligomerize and localize to the cell membrane during necroptosis (PubMed:29883610). Required for normal embryonic development, probably via its role in the biosynthesis of inositol 1,3,4,5,6-pentakisphosphate (Ins(1,3,4,5,6)P5) and inositol hexakisphosphate (InsP6) (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; MiRNA-Induced Downregulation of IPMK in Macrophages Mediates Lipopolysaccharide-Triggered TLR4 Signaling. Publication Status: Online-Only, [RefSeq, PubMed]; The major activity of human InsP(4) 5-kinase is phosphorylation at the D-5 position [InsP(4) 5-kinase], [RefSeq, PubMed]; This gene encodes a member of the inositol phosphokinase family. The encoded protein has 3-kinase, 5-kinase and 6-kinase activities on phosphorylated inositol substrates. The encoded protein plays an important role in the biosynthesis of inositol 1,3,4,5,6-pentakisphosphate, and has a preferred 5-kinase activity. This gene may play a role in nuclear mRNA export. Pseudogenes of this gene are located on the long arm of chromosome 13 and the short arm of chromosome 19. [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": 5, "reported_mutagensis": 18, "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": [ { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.1.151", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.151", "type": "external" }, { "id": "2.7.1.140", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.140", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0008440 inositol-1,4,5-trisphosphate 3-kinase activity;GO:0046934 1-phosphatidylinositol-4,5-bisphosphate 3-kinase activity;GO:0000823 inositol-1,4,5-trisphosphate 6-kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0046488 phosphatidylinositol metabolic process;GO:0070266 necroptotic process;GO:0043647 inositol phosphate metabolic process;GO:0032957 inositol trisphosphate metabolic process;GO:0032958 inositol phosphate biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q8NFU5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N7X4-1", "uniprot_id": [ { "id": "MAGB6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N7X4", "type": "external" } ], "mass": 43992.0, "length": 407, "protein_name": "Melanoma-associated antigen B6", "gene_name": "MAGEB6", "organism": "Human", "refseq_name": "melanoma-associated antigen B6", "refseq_ac": [ { "id": "NP_775794", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775794", "type": "external" } ], "gene_names_uniprotkb": "MAGEB6", "gene_names_refseq": "CT3.4; MAGE-B6; MAGEB6A; MAGEB6", "protein_names_uniprotkb": "Melanoma-associated antigen B6; CT3.4; Cancer/testis antigen 3.4; MAGE-B6 antigen", "protein_names_refseq": "MAGE-B6 antigen; cancer/testis antigen 3.4; cancer/testis antigen family 3, member 4; melanoma antigen family B, 6; melanoma antigen family B6; melanoma-associated antigen B6", "tax_id": 9606, "disease": "", "pathway": " (hsa:158809)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "10861452;26154972;29351928;29557506;32002290;32938616;33141586", "class_list": "", "function": "This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences located in the last exon, and the encoded proteins show 50 to 68% sequence identity to each other. The promoters and first exons of the MAGEB genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. This gene is expressed in testis, and in a significant fraction of tumors of various histological types. The MAGEB genes are clustered on chromosome Xp22-p21. [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 35, "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": "Q6GS19;Q9H219", "ec_number_list": [], "go_molecular_function": "", "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": 1.2, "record_id": "Q8N7X4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5U5R9-1", "uniprot_id": [ { "id": "HECD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5U5R9", "type": "external" } ], "mass": 88122.0, "length": 776, "protein_name": "Probable E3 ubiquitin-protein ligase HECTD2", "gene_name": "HECTD2", "organism": "Human", "refseq_name": "probable E3 ubiquitin-protein ligase HECTD2 isoform b", "refseq_ac": [ { "id": "NP_775768", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775768", "type": "external" } ], "gene_names_uniprotkb": "HECTD2", "gene_names_refseq": "HECTD2", "protein_names_uniprotkb": "Probable E3 ubiquitin-protein ligase HECTD2; 2.3.2.26; HECT domain-containing protein 2; HECT-type E3 ubiquitin transferase HECTD2", "protein_names_refseq": "HECT domain containing E3 ubiquitin protein ligase 2; HECT domain-containing protein 2; HECT-type E3 ubiquitin transferase HECTD2; probable E3 ubiquitin-protein ligase HECTD2 isoform b; probable E3 ubiquitin-protein ligase HECTD2", "tax_id": 9606, "disease": "", "pathway": " (hsa:143279); (R-HSA-983168)", "pathway_count": 2, "publication_count": 48, "publication_id_list": "11062501;11237011;11350924;12646216;14734113;15224091;15224092;15571818;16385451;16595681;16849449;16954532;18662542;19028597;19352404;19452197;19489725;19851334;19874575;19940261;21335971;2261476;23770851;27600516;28584101;28904123;29242379;29393594;31092671;31844290;32157095;32357974;32488085;32938616;33592498;33912179;33981976;34145398;34171305;34185709;34972816;35580925;36010968;36241641;37938771;38688591;9380723;9668046", "class_list": "", "function": "(Microbial infection) Catalyzes ubiquitination of Botulinum neurotoxin A light chain (LC) of C.botulinum neurotoxin type A (BoNT/A)., [UniProtKB, PubMed]; A major biological consequence of upregulation of miR-221 is reprogramming of androgen receptor signaling via downregulation of HECTD2 and RAB1A., [RefSeq, PubMed]; E3 ubiquitin ligase HECTD2 mediates melanoma progression and immune evasion., [RefSeq, PubMed]; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; HECTD2 polymorphisms are not associated with genetic susceptibility to sporadic Creutzfeldt-Jakob disease in a Korean population, [RefSeq, PubMed]; HECTD2/TNFAIP1 Axis Regulating the p38/JNK Pathway to Promote an Inflammatory Response in Renal Cell Carcinoma Cells., [RefSeq, PubMed]; Human gut-microbiome-derived propionate coordinates proteasomal degradation via HECTD2 upregulation to target EHMT2 in colorectal cancer., [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5VZ97;Q5VZ98;Q5VZ99;Q8N1X7;Q8TCP5", "ec_number_list": [ { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "2.3.2.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.34", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0000209 protein polyubiquitination", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q5U5R9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P215-1", "uniprot_id": [ { "id": "POGK_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P215", "type": "external" } ], "mass": 69444.0, "length": 609, "protein_name": "Pogo transposable element with KRAB domain", "gene_name": "POGK", "organism": "Human", "refseq_name": "pogo transposable element with KRAB domain isoform 1", "refseq_ac": [ { "id": "NP_060012", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060012", "type": "external" } ], "gene_names_uniprotkb": "POGK; KIAA1513; LST003; SLTP003", "gene_names_refseq": "BASS2; KRBOX2; LST003; POGK", "protein_names_uniprotkb": "Pogo transposable element with KRAB domain", "protein_names_refseq": "KRAB box domain containing 2; pogo transposable element with KRAB domain isoform 1; pogo transposable element with KRAB domain", "tax_id": 9606, "disease": "", "pathway": " (hsa:57645)", "pathway_count": 1, "publication_count": 63, "publication_id_list": "11237011;16964243;19064610;19536175;20068231;25218447;25418920;25576301;25645385;25880248;26375851;26992070;27600516;27846572;27862975;27920218;28218747;28649982;28832583;28834231;28904123;29242379;29331515;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30410026;30429286;30484775;30779550;30833945;31154438;31217245;31222486;31844290;31848261;32157095;32161166;32357974;32387766;32502341;32897882;32938616;32983136;33123756;33141586;33592498;33691108;33912179;33968037;33981976;34087483;34932366;35051231;35318648;35561310;35580925;36010968;36241641", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; The exact function of the protein encoded by this gene is not known. However, this gene product contains a KRAB domain (which is involved in protein-protein interactions) at the N-terminus, and a transposase domain at the C-terminus, suggesting that it may belong to the family of DNA-mediated transposons in human. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q5TIJ1;Q8TE07", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q9P215-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P00390-1", "uniprot_id": [ { "id": "GSHR_HUMAN", "url": "https://www.uniprot.org/uniprot/P00390", "type": "external" } ], "mass": 56257.0, "length": 522, "protein_name": "Glutathione reductase, mitochondrial", "gene_name": "GSR", "organism": "Human", "refseq_name": "glutathione reductase, mitochondrial isoform 1 precursor", "refseq_ac": [ { "id": "NP_000628", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000628", "type": "external" } ], "gene_names_uniprotkb": "GSR; GLUR; GRD1", "gene_names_refseq": "CNSHA10; GR; GSRD; GSR; HEL-75; HEL-S-122m", "protein_names_uniprotkb": "Glutathione reductase, mitochondrial; 1.8.1.7; GRase; GR", "protein_names_refseq": "GRase; epididymis luminal protein 75; epididymis secretory sperm binding protein Li 122m; glutathione S-reductase; glutathione reductase, mitochondrial isoform 1 precursor; glutathione reductase, mitochondrial", "tax_id": 9606, "disease": "hemorrhagic cystitis (Disease Ontology:DOID:0050859); congenital nonspherocytic hemolytic anemia 10 (Disease Ontology:DOID:0051009); myoglobinuria (Disease Ontology:DOID:0080108); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); Parkinsonism (Disease Ontology:DOID:0080855); Heinz body anemia (Disease Ontology:DOID:0111363); lymphoid leukemia (Disease Ontology:DOID:1037); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); osteoporosis (Disease Ontology:DOID:11476); diabetic angiopathy (Disease Ontology:DOID:11713); limb-girdle muscular dystrophy (Disease Ontology:DOID:11724); iron deficiency anemia (Disease Ontology:DOID:11758); beta thalassemia (Disease Ontology:DOID:12241); acute kidney tubular necrosis (Disease Ontology:DOID:12556); Huntington's disease (Disease Ontology:DOID:12858); dementia (Disease Ontology:DOID:1307); diabetic cataract (Disease Ontology:DOID:13328); transient cerebral ischemia (Disease Ontology:DOID:224); acute kidney failure (Disease Ontology:DOID:3021); coronary artery disease (Disease Ontology:DOID:3393); macular degeneration (Disease Ontology:DOID:4448); renal cell carcinoma (Disease Ontology:DOID:4450); myocardial infarction (Disease Ontology:DOID:5844); nephrolithiasis (Disease Ontology:DOID:585); congenital hemolytic anemia (Disease Ontology:DOID:589); peptic ulcer disease (Disease Ontology:DOID:750); end stage renal disease (Disease Ontology:DOID:783); hyperthyroidism (Disease Ontology:DOID:7998); cataract (Disease Ontology:DOID:83); alcoholic gastritis (Disease Ontology:DOID:8680); polycythemia vera (Disease Ontology:DOID:8997); acute myeloid leukemia (Disease Ontology:DOID:9119); diabetes mellitus (Disease Ontology:DOID:9351); senile cataract (Disease Ontology:DOID:9669); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:2936)", "pathway_count": 1, "publication_count": 69, "publication_id_list": "10708558;11237011;15592455;16910673;17185460;18638483;20068231;20628807;2185014;23301498;23481700;24714562;25645385;2585516;26375851;26728094;26992070;27862975;28467828;28832583;28834231;29242379;29314611;29393594;29557506;29632046;29632711;30379171;30429286;30833945;31530934;31844290;31848261;32157095;32161166;32350084;32897882;32938616;32983136;33043033;33298915;33592498;33717175;33912179;33936100;33968037;34019948;34087483;34090318;34107852;34171305;34229054;34357683;34561969;35051231;35251023;35361806;35580925;36215666;36241641;3656429;38665916;40914422;7060551;7334521;8626496;9174360;923580;9546215", "class_list": "", "function": "AMPKalpha1 is overexpressed in colorectal cancer (CRC) patient specimens and the high expression is correlated with poor survival. AMPKalpha1 maintains high level of reduced glutathione to keep redox homeostasis under stress conditions, thus promoting CRC cell survival. Mechanistically, AMPKalpha1 regulate the glutathione reductase (GSR) phosphorylation possibly through residue Thr507 which enhances its activity., [RefSeq, PubMed]; Catalyzes the reduction of glutathione disulfide (GSSG) to reduced glutathione (GSH). Constitutes the major mechanism to maintain a high GSH:GSSG ratio in the cytosol., [UniProtKB, PubMed]; Evaluation of glutathione reductase activity in colon tissue of patients with irritable bowel syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Identification, analysis of deleterious SNPs of the human GSR gene and their effects on the structure and functions of associated proteins and other diseases. Publication Status: Online-Only, [RefSeq, PubMed]; MicroRNA-362-5p promotes the proliferation and inhibits apoptosis of trophoblast cells via targeting glutathione-disulfide reductase., [RefSeq, PubMed]; This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. This enzyme is a homodimeric flavoprotein. It is a central enzyme of cellular antioxidant defense, and reduces oxidized glutathione disulfide (GSSG) to the sulfhydryl form GSH, which is an important cellular antioxidant. Rare mutations in this gene result in hereditary glutathione reductase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been found. [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 36, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "C8KIL8;C8KIL9;C8KIM0;D3DSV3;Q7Z5C9;Q9NP63", "ec_number_list": [ { "id": "1.8.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.1.7", "type": "external" } ], "go_molecular_function": "GO:0009055 electron transfer activity;GO:0050660 flavin adenine dinucleotide binding;GO:0050661 NADP binding;GO:0004362 glutathione-disulfide reductase (NADPH) activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0034599 cellular response to oxidative stress;GO:0045454 cell redox homeostasis;GO:0006749 glutathione metabolic process", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "P00390-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P28161-1", "uniprot_id": [ { "id": "GSTM2_HUMAN", "url": "https://www.uniprot.org/uniprot/P28161", "type": "external" } ], "mass": 25745.0, "length": 218, "protein_name": "Glutathione S-transferase Mu 2", "gene_name": "GSTM2", "organism": "Human", "refseq_name": "glutathione S-transferase Mu 2 isoform 1", "refseq_ac": [ { "id": "NP_000839", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000839", "type": "external" } ], "gene_names_uniprotkb": "GSTM2; GST4", "gene_names_refseq": "GST4; GSTM2-2; GSTM2; GSTM; GTHMUS", "protein_names_uniprotkb": "Glutathione S-transferase Mu 2; 2.5.1.18; GST class-mu 2; GSTM2-2", "protein_names_refseq": "GST class-mu 2; GST, muscle; S-(hydroxyalkyl)glutathione lyase M2; epididymis secretory sperm binding protein; glutathione S-alkyltransferase M2; glutathione S-aralkyltransferase M2; glutathione S-aryltransferase M2; glutathione S-transferase 4; glutathione S-transferase M1; glutathione S-transferase M2 (muscle); glutathione S-transferase Mu 2 isoform 1; glutathione S-transferase mu 2 (muscle)", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763)", "pathway": " (hsa:2946); (R-HSA-156590)", "pathway_count": 2, "publication_count": 70, "publication_id_list": "10329152;10587441;10783391;11237011;11327815;11904223;12042665;12211029;12627223;14742434;16081649;16298388;16548513;16549767;19808963;20083122;20085333;2034681;21046276;21106529;21668448;22522127;22544926;23162467;23481700;25418920;25576301;25645385;26374642;26375851;26929215;26992070;27600516;28514659;28832583;28834231;29242379;29393594;29508533;29632046;29786170;30620550;30779550;31222486;31848261;32157095;32574561;32938616;32983136;33555546;33592498;3372534;33912179;33968037;34932366;35154160;35494241;36038661;3770744;4768551;8182750;8203914;8331657;8373352;8431482;8703034;8812420;9278457;9551553;9839448", "class_list": "", "function": "Cellular Trafficking of Glutathione Transferase M2-2 Between U373MG and SHSY-S7 Cells is Mediated by Exosomes., [RefSeq, PubMed]; Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Participates in the formation of novel hepoxilin regioisomers (PubMed:21046276)., [UniProtKB, PubMed, PubMed]; Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. [provided by RefSeq, Jul 2008]., [RefSeq]; GSTM2 is a key molecular determinant of resistance to SG-ARIs., [RefSeq, PubMed]; Small Extracellular Vesicles Have GST Activity and Ameliorate Senescence-Related Tissue Damage., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 9, "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": "B4DRY4;E9PEM9;Q2M318;Q5TZY5;Q8WWE1", "ec_number_list": [ { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" }, { "id": "5.2.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.2", "type": "external" }, { "id": "5.3.99.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.2", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.3.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.-", "type": "external" }, { "id": "1.20.4.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.20.4.2", "type": "external" }, { "id": "1.8.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1", "type": "external" }, { "id": "4.4.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:4.4.1.20", "type": "external" } ], "go_molecular_function": "GO:0004364 glutathione transferase activity;GO:0043295 glutathione binding;GO:0005504 fatty acid binding;GO:0019899 enzyme binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:0016529 sarcoplasmic reticulum", "go_biological_process": "GO:0043651 linoleic acid metabolic process;GO:0042178 xenobiotic catabolic process;GO:0010880 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;GO:0010881 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion;GO:0055119 relaxation of cardiac muscle", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "P28161-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBP5-1", "uniprot_id": [ { "id": "HEY2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBP5", "type": "external" } ], "mass": 35808.0, "length": 337, "protein_name": "Hairy/enhancer-of-split related with YRPW motif protein 2", "gene_name": "HEY2", "organism": "Human", "refseq_name": "hairy/enhancer-of-split related with YRPW motif protein 2", "refseq_ac": [ { "id": "NP_036391", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036391", "type": "external" } ], "gene_names_uniprotkb": "HEY2; BHLHB32; CHF1; GRL; HERP1; HERP; HRT2", "gene_names_refseq": "CHF1; GRIDLOCK; GRL; HERP1; HESR2; HEY2; HRT2; bHLHb32", "protein_names_uniprotkb": "Hairy/enhancer-of-split related with YRPW motif protein 2; Cardiovascular helix-loop-helix factor 1; Class B basic helix-loop-helix protein 32; HES-related repressor protein 2; HESR-2; HRT-2; Hairy and enhancer of split-related protein 2; Hairy-related transcription factor 2; Protein gridlock homolog; bHLHb32; hCHF1; hHRT2", "protein_names_refseq": "HES-related repressor protein 1; HES-related repressor protein 2; HESR-2; HRT-2; cardiovascular basic helix-loop-helix factor 1; cardiovascular helix-loop-helix factor 1; class B basic helix-loop-helix protein 32; hCHF1; hHRT2; hairy and enhancer of split-related protein 2; hairy-related transcription factor 2; hairy/enhancer-of-split related with YRPW motif 2; hairy/enhancer-of-split related with YRPW motif protein 2; protein gridlock homolog", "tax_id": 9606, "disease": "hemangiopericytoma (Disease Ontology:DOID:264); aortic valve disease (Disease Ontology:DOID:62); tetralogy of Fallot (Disease Ontology:DOID:6419); varicose veins (Disease Ontology:DOID:799)", "pathway": " (hsa:23493); (R-HSA-2122947); (R-HSA-2644606); (R-HSA-2894862); (R-HSA-8940973); (R-HSA-9013508); (R-HSA-9013695); (R-HSA-9733709)", "pathway_count": 8, "publication_count": 114, "publication_id_list": "10206645;10415358;10692439;10710309;10713164;10879540;10882063;10964718;11006133;11044625;11095750;11106645;11237011;11461910;11486044;11545733;11585921;11740940;11866432;12050117;12209127;12231506;12354787;12386158;12391150;12391164;12529404;12530964;14672936;14765127;14980219;15095414;15107403;15485867;15531924;15546612;15574878;15760269;15824097;15829515;16025100;16093323;16099986;16256737;16293227;16329098;16530044;16738328;16751105;17003037;17114293;17401372;17646408;17646409;18043734;18077452;18094723;18239137;18296446;18374649;18477452;18824583;18824585;18974129;19151708;19389811;19479054;19524514;19726682;19801668;20686481;20804727;20877012;20972443;21173110;22396495;25187301;25417103;25865393;26387946;26783251;26801977;26967290;27749937;27797343;27841855;27846572;29146722;29557506;29636455;31092671;31154438;31217245;31844290;32357974;32820247;32997309;33054971;35251023;7566092;7588063;7891679;8001118;8649374;8687460;9182762;9244301;9315665;9462510;9604939;9620803;9651681;9694793;9819428", "class_list": "", "function": "Downstream effector of Notch signaling which may be required for cardiovascular development. Transcriptional repressor which binds preferentially to the canonical E box sequence 5'-CACGTG-3'. Represses transcription by the cardiac transcriptional activators GATA4 and GATA6., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms. Erratum:[Genet Med. 2022 Apr;24(4):965. doi: 10.1016/j.gim.2022.01.018. PMID: 35394427], [RefSeq, PubMed]; Notch-HEY2 signaling pathway contributes to the differentiation of CD34(+) hematopoietic-like stem cells from adult peripheral blood insulin-producing cells after the treatment with platelet-derived mitochondria., [RefSeq, PubMed]; This gene encodes a member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The encoded protein forms homo- or hetero-dimers that localize to the nucleus and interact with a histone deacetylase complex to repress transcription. Expression of this gene is induced by the Notch signal transduction pathway. Two similar and redundant genes in mouse are required for embryonic cardiovascular development, and are also implicated in neurogenesis and somitogenesis. 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": 1, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0042802 identical protein binding;GO:0046983 protein dimerization activity;GO:0042826 histone deacetylase binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0017053 transcription repressor complex;GO:0000785 chromatin", "go_biological_process": "GO:0072359 circulatory system development;GO:0003208 cardiac ventricle morphogenesis;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0001570 vasculogenesis;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "Q9UBP5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BTM1-1", "uniprot_id": [ { "id": "H2AJ_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BTM1", "type": "external" } ], "mass": 14019.0, "length": 129, "protein_name": "Histone H2A.J", "gene_name": "H2AJ", "organism": "Human", "refseq_name": "histone H2A.J", "refseq_ac": [ { "id": "NP_808760", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_808760", "type": "external" } ], "gene_names_uniprotkb": "H2AJ; H2AFJ", "gene_names_refseq": "H2AFJ; H2AJ", "protein_names_uniprotkb": "Histone H2A.J; H2a/j", "protein_names_refseq": "H2A histone family member J; H2a/j; buforin I; histone H2A.J", "tax_id": 9606, "disease": "", "pathway": " (hsa:55766); (R-HSA-110328); (R-HSA-110329); (R-HSA-110330); (R-HSA-110331); (R-HSA-1221632); (R-HSA-171306); (R-HSA-1912408); (R-HSA-201722); (R-HSA-212300); (R-HSA-2299718); (R-HSA-2559580); (R-HSA-2559582); (R-HSA-2559586); (R-HSA-3214858); (R-HSA-427359); (R-HSA-427389); (R-HSA-427413); (R-HSA-5250924); (R-HSA-5334118); (R-HSA-5578749); (R-HSA-5617472); (R-HSA-5625886); (R-HSA-606279); (R-HSA-68616); (R-HSA-73728); (R-HSA-73772); (R-HSA-8936459); (R-HSA-8939236); (R-HSA-9018519); (R-HSA-912446); (R-HSA-9616222); (R-HSA-9670095); (R-HSA-9710421); (R-HSA-9764725); (R-HSA-9821002); (R-HSA-9841922); (R-HSA-9843940); (R-HSA-9843970); (R-HSA-9845323); (R-HSA-9909649); (R-HSA-9937850); (R-HSA-9940465); (R-HSA-9940951); (R-HSA-9943411); (R-HSA-9943962)", "pathway_count": 46, "publication_count": 851, "publication_id_list": 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"class_list": "", "function": "Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling., [UniProtKB, UniProtKB, UniProtKB]; Histone Variant H2A.J Is Enriched in Luminal Epithelial Gland Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Histone Variant H2A.J Marks Persistent DNA Damage and Triggers the Secretory Phenotype in Radiation-Induced Senescence. Publication Status: Online-Only, [RefSeq, PubMed]; Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is located on chromosome 12 and encodes a replication-independent histone that is a variant H2A histone. The protein is divergent at the C-terminus compared to the consensus H2A histone family member. This gene also encodes an antimicrobial peptide with antibacterial and antifungal activity.[provided by RefSeq, Oct 2015]., [RefSeq]; In this paper, the authors identified and cloned the H2AFJ gene on chr 12 and used it as a control for studying two macroH2A genes., [RefSeq, PubMed]; Studies on Human Cultured Fibroblasts and Cutaneous Squamous Cell Carcinomas Suggest That Overexpression of Histone Variant H2A.J Promotes Radioresistance and Oncogenic Transformation. Publication Status: Online-Only, [RefSeq, PubMed]; The antimicrobial protein buforin I results from proteolytic cleavage of the histone protein H2A in the stomach. 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": 2, "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": "Q9NV63", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0046982 protein heterodimerization activity;GO:0030527 structural constituent of chromatin", "go_cellular_component": "GO:0005634 nucleus;GO:0070062 extracellular exosome;GO:0000786 nucleosome", "go_biological_process": "GO:0031507 heterochromatin formation", "synthesized_glycan_count": 0, "hit_score": 85.4, "record_id": "Q9BTM1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P26583-1", "uniprot_id": [ { "id": "HMGB2_HUMAN", "url": "https://www.uniprot.org/uniprot/P26583", "type": "external" } ], "mass": 24034.0, "length": 209, "protein_name": "High mobility group protein B2", "gene_name": "HMGB2", "organism": "Human", "refseq_name": "high mobility group protein B2", "refseq_ac": [ { "id": "NP_001124160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124160", "type": "external" } ], "gene_names_uniprotkb": "HMGB2; HMG2", "gene_names_refseq": "HMG2; HMGB2", "protein_names_uniprotkb": "High mobility group protein B2; HMG-2; High mobility group protein 2", "protein_names_refseq": "HMG-2; high mobility group protein 2; high mobility group protein B2; high-mobility group (nonhistone chromosomal) protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:3148); (R-HSA-140342)", "pathway_count": 2, "publication_count": 76, "publication_id_list": "10318789;10713148;11237011;11909973;12748178;12925773;14729942;1475204;15149602;1551873;15569692;15910001;17081983;17287340;1754403;17938174;18239742;18283539;18413230;19522541;19608861;19811285;19965638;20068231;20123072;22645359;23186163;23877675;24531895;26992070;28510447;28904123;29242379;29314611;29493099;29557506;30315122;30429286;30779550;31154438;31530632;31611695;31844290;31848261;31937595;31998317;32157095;32350084;32488085;32897882;32938616;32983136;33214551;33392160;33936100;33968037;33981976;34019948;34171305;34211107;34357683;35051231;35251023;35318648;35580925;37176041;37217939;37713866;38542079;38622929;38665916;39354146;39894887;40914422;7797075;9108473", "class_list": "", "function": "Correlation of serum HMGB1 and HMGB2 levels with clinical symptoms in allergic rhinitis children., [RefSeq, PubMed]; HMGB2-induced calreticulin translocation required for immunogenic cell death and ferroptosis of cancer cells are controlled by the nuclear exporter XPO1. Erratum:[Commun Biol. 2025 Oct 4;8(1):1424. doi: 10.1038/s42003-025-08894-z. PMID: 41046265] Publication Status: Online-Only, [RefSeq, PubMed]; Multifunctional protein with various roles in different cellular compartments. May act in a redox sensitive manner. In the nucleus is an abundant chromatin-associated non-histone protein involved in transcription, chromatin remodeling and V(D)J recombination and probably other processes. Binds DNA with a preference to non-canonical DNA structures such as single-stranded DNA. Can bent DNA and enhance DNA flexibility by looping thus providing a mechanism to promote activities on various gene promoters by enhancing transcription factor binding and/or bringing distant regulatory sequences into close proximity (PubMed:11909973, PubMed:18413230, PubMed:19522541, PubMed:19965638, PubMed:20123072, PubMed:7797075). Involved in V(D)J recombination by acting as a cofactor of the RAG complex: acts by stimulating cleavage and RAG protein binding at the 23 bp spacer of conserved recombination signal sequences (RSS) (By similarity). Proposed to be involved in the innate immune response to nucleic acids by acting as a promiscuous immunogenic DNA/RNA sensor which cooperates with subsequent discriminative sensing by specific pattern recognition receptors (By similarity). In the extracellular compartment acts as a chemokine. Promotes proliferation and migration of endothelial cells implicating AGER/RAGE (PubMed:19811285). Has antimicrobial activity in gastrointestinal epithelial tissues (PubMed:23877675). Involved in inflammatory response to antigenic stimulus coupled with pro-inflammatory activity (By similarity). Involved in modulation of neurogenesis probably by regulation of neural stem proliferation (By similarity). Involved in articular cartilage surface maintenance implicating LEF1 and the Wnt/beta-catenin pathway (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Structure and Functions of HMGB2 Protein. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The Effect of HMGB1 and HMGB2 on Transcriptional Regulation Differs in Neuroendocrine and Adenocarcinoma Models of Prostate Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The transcription factor HMGB2 indirectly regulates APRIL expression and Gd-IgA1 production in patients with IgA nephropathy., [RefSeq, PubMed]; This gene encodes a member of the non-histone chromosomal high mobility group protein family. The proteins of this family are chromatin-associated and ubiquitously distributed in the nucleus of higher eukaryotic cells. In vitro studies have demonstrated that this protein is able to efficiently bend DNA and form DNA circles. These studies suggest a role in facilitating cooperative interactions between cis-acting proteins by promoting DNA flexibility. This protein was also reported to be involved in the final ligation step in DNA end-joining processes of DNA double-strand breaks repair and V(D)J recombination. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B2R4K8;D3DP37;Q5U072", "ec_number_list": [], "go_molecular_function": "GO:0008301 DNA binding, bending;GO:0050786 RAGE receptor binding;GO:0003677 DNA binding;GO:0003713 transcription coactivator activity;GO:0003723 RNA binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm", "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:0010629 negative regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "P26583-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6EKJ0-1", "uniprot_id": [ { "id": "GTD2B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6EKJ0", "type": "external" } ], "mass": 107233.0, "length": 949, "protein_name": "General transcription factor II-I repeat domain-containing protein 2B", "gene_name": "GTF2IRD2B", "organism": "Human", "refseq_name": "general transcription factor II-I repeat domain-containing protein 2B isoform 1", "refseq_ac": [ { "id": "NP_001003795", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003795", "type": "external" } ], "gene_names_uniprotkb": "GTF2IRD2B", "gene_names_refseq": "GTF2IRD2A; GTF2IRD2B; GTF2IRD2", "protein_names_uniprotkb": "General transcription factor II-I repeat domain-containing protein 2B; GTF2I repeat domain-containing protein 2B; Transcription factor GTF2IRD2-beta", "protein_names_refseq": "GTF2I repeat domain-containing protein 2A; GTF2I repeat domain-containing protein 2B; GTF2IRD2 beta; General transcription factor II-I repeat domain-containing protein 2A; Transcription factor GTF2IRD2-alpha; general transcription factor 2 I repeat domain-containing 2 beta; general transcription factor II-I repeat domain-containing protein 2B isoform 1; general transcription factor II-I repeat domain-containing protein 2B; transcription factor GTF2IRD2-beta", "tax_id": 9606, "disease": "", "pathway": " (hsa:389524)", "pathway_count": 1, "publication_count": 44, "publication_id_list": "11237011;15100712;15388857;16532385;23481700;23783831;24715725;25418920;25576301;25645385;25880248;25892735;26811146;27600516;27920218;28228285;28514659;28832583;28834231;29242379;29331515;29393594;29508533;29557506;29632711;29786170;29789417;30315122;31154438;31844290;31848261;32161166;32265295;32357974;32387766;32488085;32502341;33298915;33592498;33717175;33912179;33936100;33981976;37938771", "class_list": "", "function": "This gene encodes a glycosylated phosphoprotein with a leucine zipper motif, two helix-loop-helix motifs (I repeats) that are similar to domains found in the TFII-I family of transcription factors, one CHARLIE8 transposable element-like sequence, and a BED zinc finger. This gene lies within a region that is deleted in Williams-Beuren syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [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": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RNE9;Q69GU6;Q8N979;Q9H739", "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:0005654 nucleoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q6EKJ0-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2M0-1", "uniprot_id": [ { "id": "FAN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2M0", "type": "external" } ], "mass": 114225.0, "length": 1017, "protein_name": "Fanconi-associated nuclease 1", "gene_name": "FAN1", "organism": "Human", "refseq_name": "fanconi-associated nuclease 1 isoform b", "refseq_ac": [ { "id": "NP_001139566", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139566", "type": "external" } ], "gene_names_uniprotkb": "FAN1; KIAA1018; MTMR15", "gene_names_refseq": "FAN1; KIAA1018; KMIN; MTMR15; hFAN1", "protein_names_uniprotkb": "Fanconi-associated nuclease 1; 3.1.21.-; 3.1.4.1; FANCD2/FANCI-associated nuclease 1; Myotubularin-related protein 15; hFAN1", "protein_names_refseq": "FANCD2/FANCI-associated nuclease 1; coiled-coil domain-containing protein MTMR15; fanconi anemia associated nuclease 1; fanconi-associated nuclease 1 isoform b; myotubularin-related protein 15", "tax_id": 9606, "disease": "karyomegalic interstitial nephritis (Disease Ontology:DOID:0060911); Fanconi anemia (Disease Ontology:DOID:13636)", "pathway": " (hsa:22909); (R-HSA-6783310)", "pathway_count": 2, "publication_count": 72, "publication_id_list": "11237011;11239454;15572677;16916645;16943440;17289582;17412408;17460694;17938197;18082604;18174376;18931676;19111657;19561358;19589784;19596236;19995904;20102227;20347428;20347429;20385554;20603015;20603016;20603073;20670894;20671156;20935496;21115814;21464321;21701511;21764741;22258451;22287633;22396592;22510687;22692201;22772369;22854063;23186163;23325218;23698467;23723247;24076221;24344280;24389026;24623813;24726325;24905007;24981866;25135477;25430771;25500724;26154972;27846572;28904123;30379171;30429286;30484775;31844290;31937595;32265295;32938616;33298915;33691108;33968037;34171305;34330701;35051231;35931300;37549289;38607933;38892095", "class_list": "", "function": "FAN1 colocalizes at sites of DNA damage with the ID complex in a manner dependent on FAN1's ubiquitin-binding domain (UBZ), the FANCI-FAND2 (ID) complex, and monoubiquitination of FANCD2., [RefSeq, PubMed]; FAN1 removes triplet repeat extrusions via a PCNA- and RFC-dependent mechanism., [RefSeq, PubMed]; KIAA1018 is a 5'-->3' exonuclease and a structure-specific endonuclease that preferentially incises 5' flaps; like cells from FA patients, human cells depleted of KIAA1018 are sensitized to ICL-inducing agents and display chromosomal instability., [RefSeq, PubMed]; Nuclease required for the repair of DNA interstrand cross-links (ICL) recruited at sites of DNA damage by monoubiquitinated FANCD2. Specifically involved in repair of ICL-induced DNA breaks by being required for efficient homologous recombination, probably in the resolution of homologous recombination intermediates (PubMed:20603015, PubMed:20603016, PubMed:20603073, PubMed:20671156, PubMed:24981866, PubMed:25430771). Not involved in DNA double-strand breaks resection (PubMed:20603015, PubMed:20603016). Acts as a 5'-3' exonuclease that anchors at a cut end of DNA and cleaves DNA successively at every third nucleotide, allowing to excise an ICL from one strand through flanking incisions. Probably keeps excising with 3'-flap annealing until it reaches and unhooks the ICL (PubMed:25430771). Acts at sites that have a 5'-terminal phosphate anchor at a nick or a 1- or 2-nucleotide flap and is augmented by a 3' flap (PubMed:25430771). Also has endonuclease activity toward 5'-flaps (PubMed:20603015, PubMed:20603016, PubMed:24981866)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Nuclease required for the repair of DNA interstrand cross-links (ICL). Acts as a 5'-3' exonuclease that anchors at a cut end of DNA and cleaves DNA successively at every third nucleotide, allowing to excise an ICL from one strand through flanking incisions., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Persistent DNA damage underlies tubular cell polyploidization and progression to chronic kidney disease in kidneys deficient in the DNA repair protein FAN1., [RefSeq, PubMed]; Phenotypic and Genotypic Features of the FAN1 Mutation-Related Disease in a Large Hungarian Family. Publication Status: Online-Only, [RefSeq, PubMed]; Posttranscriptional regulation of FAN1 by miR-124-3p at rs3512 underlies onset-delaying genetic modification in Huntington's disease., [RefSeq, PubMed]; Study characterizes FANI which promotes DNA interstrand cross-linking repair in a manner strictly dependent on its ability to accumulate at or near sites of DNA damage and that relies on mono-ubiquitylation of the FANCI-FANCD2 complex, [RefSeq, PubMed]; Study describes how a highly conserved protein, KIAA1018/MTMR15/FAN1, that interacts with, and is recruited to sites of DNA damage by, the monoubiquitinated form of FANCD2., [RefSeq, PubMed]; This gene plays a role in DNA interstrand cross-link repair and encodes a protein with 5' flap endonuclease and 5'-3' exonuclease activity. Mutations in this gene cause karyomegalic interstitial nephritis. Alternatively spliced transcript variants encoding distinct isoforms have been described. [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": 2, "reported_mutagensis": 10, "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": "A8K4M2;Q86WU8", "ec_number_list": [ { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.5.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.2.6", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.1.22.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.22.-", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.1.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.21.-", "type": "external" }, { "id": "3.1.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.1", "type": "external" } ], "go_molecular_function": "GO:0140036 ubiquitin-modified protein reader activity;GO:0000287 magnesium ion binding;GO:0008270 zinc ion binding;GO:0004528 phosphodiesterase I activity;GO:0008409 5'-3' exonuclease activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0006281 DNA repair;GO:0000724 double-strand break repair via homologous recombination;GO:0036297 interstrand cross-link repair;GO:0006289 nucleotide-excision repair", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q9Y2M0-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WUB2-1", "uniprot_id": [ { "id": "F216A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WUB2", "type": "external" } ], "mass": 30792.0, "length": 273, "protein_name": "Protein FAM216A", "gene_name": "FAM216A", "organism": "Human", "refseq_name": "protein FAM216A", "refseq_ac": [ { "id": "NP_037432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037432", "type": "external" } ], "gene_names_uniprotkb": "FAM216A; C12orf24", "gene_names_refseq": "C12orf24; FAM216A; HSU79274", "protein_names_uniprotkb": "Protein FAM216A", "protein_names_refseq": "protein FAM216A; protein predicted by clone 23733; uncharacterized protein C12orf24", "tax_id": 9606, "disease": "", "pathway": " (hsa:29902)", "pathway_count": 1, "publication_count": 46, "publication_id_list": "11237011;24714562;24715725;25469497;25505266;25576301;25892735;26375851;26728094;26992070;27600516;27846572;27893789;28063628;28218747;28832583;28834231;29242379;29393594;29437277;29493099;29557506;29632046;29632711;30315122;30410026;30429286;31092671;31154438;31217245;31844290;31998317;32157095;32161166;32265295;32357974;32897882;32983136;33592498;33691108;33717175;33981976;34561969;35494241;35561310;36581221", "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": 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": "A6NH30;Q99776", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q8WUB2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NWN3-1", "uniprot_id": [ { "id": "FBX34_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NWN3", "type": "external" } ], "mass": 78711.0, "length": 711, "protein_name": "F-box only protein 34", "gene_name": "FBXO34", "organism": "Human", "refseq_name": "F-box only protein 34", "refseq_ac": [ { "id": "NP_060413", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060413", "type": "external" } ], "gene_names_uniprotkb": "FBXO34; FBX34", "gene_names_refseq": "CGI-301; FBXO34; Fbx34", "protein_names_uniprotkb": "F-box only protein 34", "protein_names_refseq": "F-box only protein 34; protein CGI-301", "tax_id": 9606, "disease": "", "pathway": " (hsa:55030)", "pathway_count": 1, "publication_count": 47, "publication_id_list": "11237011;24714562;24715725;25576301;26154972;26375851;26728094;27846572;27920218;28218747;28228285;28832583;28834231;29242379;29331515;29393594;29437277;29557506;29789417;30429286;30779550;31154438;31844290;31848261;31937595;31998317;32157095;32161166;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33912179;33936100;33968037;34509645;35051231;35580925;36010968;36284347;36285453;37938771", "class_list": "", "function": "(Microbial infection) Plays a positive role in latent HIV-1 activation. Mechanistically, promotes hnRNP U/HNRNPU ubiquitination, which leads to its degradation and abolishment of the interaction between hnRNP U and HIV-1 Rev mRNA., [UniProtKB, PubMed]; FBXO34 promotes latent HIV-1 activation by post-transcriptional modulation., [RefSeq, PubMed]; Members of the F-box protein family, such as FBXO34, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]., [RefSeq]; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex promoting ubiquitination and proteasomal degradation of specific target proteins including HNRNPU (PubMed:36285453). Regulates both the G2/M transition and anaphase entry in meiotic oocytes (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": 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": "Q2VPB5;Q4VBP5;Q86TY4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q9NWN3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TB52-1", "uniprot_id": [ { "id": "FBX30_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TB52", "type": "external" } ], "mass": 82304.0, "length": 745, "protein_name": "F-box only protein 30", "gene_name": "FBXO30", "organism": "Human", "refseq_name": "F-box only protein 30", "refseq_ac": [ { "id": "NP_001335021", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001335021", "type": "external" } ], "gene_names_uniprotkb": "FBXO30; FBX30", "gene_names_refseq": "FBXO30; Fbx30", "protein_names_uniprotkb": "F-box only protein 30", "protein_names_refseq": "F-box domain protein; F-box only protein 30; F-box only protein, helicase, 18", "tax_id": 9606, "disease": "", "pathway": " (hsa:84085); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 185, "publication_id_list": "10.1101/2023.09.13.557529;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;12903040;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;16959974;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18669648;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;20112406;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22959436;23201271;23301498;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24715725;24793695;24793696;25314029;25349211;25355947;25531226;25576301;26154972;26344709;26460955;26632597;26906416;26992070;27030794;27222660;27565346;27846572;27920218;28115426;28218747;28228285;28446606;28510447;28832583;28834231;28904123;29153394;29242379;29331515;29393594;29437277;29557506;29632046;29632711;29789417;30315122;30410026;30429286;30524438;30610225;31092671;31154438;31217245;31320612;31844290;32005965;32157095;32161166;32284348;32357974;32387766;32488085;32897882;32938616;33444648;33537174;33691108;33912179;33968037;34087483;34185709;34405274;34932366;35051231;35318648;35580925;36010968;36284347;36799168;37938771;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "FBXO30 functions as a tumor suppressor and an E3 ubiquitin ligase for hZIP1mediated HIF1alpha degradation in renal cell carcinoma., [RefSeq, PubMed]; Results suggest that D6S1581 is highly associated with nasopharyngeal carcinoma, and there may be one or more NPC associated genes near D6S1581, including FBXO30., [RefSeq, PubMed]; Retinoic acid receptor gamma levels are controlled by FBXO30-mediated ubiquitination and that FBXO30 is a key regulator of BMP signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Required for muscle atrophy following denervation., [UniProtKB]; This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it is upregulated in nasopharyngeal carcinoma. [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "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": "Q9BXZ7", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0016567 protein ubiquitination;GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 19.0, "record_id": "Q8TB52-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96E09-1", "uniprot_id": [ { "id": "PBIR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96E09", "type": "external" } ], "mass": 30529.0, "length": 287, "protein_name": "PPP2R1A-PPP2R2A-interacting phosphatase regulator 1", "gene_name": "PABIR1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "PABIR1; C9orf42; FAM122A", "gene_names_refseq": "", "protein_names_uniprotkb": "PPP2R1A-PPP2R2A-interacting phosphatase regulator 1; PABIR family member 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:116224)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "17081983;17924679;18220336;18669648;19690332;20068231;21406692;23186163;24275569;25114211;27588481;28514659;29393594;29485866;31844290;33108758;38123684", "class_list": "", "function": "Acts as an inhibitor of serine/threonine-protein phosphatase 2A (PP2A) activity (PubMed:27588481, PubMed:33108758, PubMed:38123684). Inhibits PP2A activity by blocking the substrate binding site on PPP2R2A and the active site of PPP2CA (PubMed:38123684). Potentiates ubiquitin-mediated proteasomal degradation of serine/threonine-protein phosphatase 2A catalytic subunit alpha (PPP2CA) (PubMed:27588481). Inhibits PP2A-mediated dephosphorylation of WEE1, promoting ubiquitin-mediated proteolysis of WEE1, thereby releasing G2/M checkpoint (PubMed:33108758)., [UniProtKB, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 16, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 5, "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:0004865 protein serine/threonine phosphatase inhibitor activity;GO:0051721 protein phosphatase 2A binding;GO:0004864 protein phosphatase inhibitor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016604 nuclear body", "go_biological_process": "GO:0030307 positive regulation of cell growth;GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process;GO:0044818 mitotic G2/M transition checkpoint", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q96E09-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96JP0-1", "uniprot_id": [ { "id": "FEM1C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96JP0", "type": "external" } ], "mass": 68673.0, "length": 617, "protein_name": "Protein fem-1 homolog C", "gene_name": "FEM1C", "organism": "Human", "refseq_name": "protein fem-1 homolog C", "refseq_ac": [ { "id": "NP_064562", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064562", "type": "external" } ], "gene_names_uniprotkb": "FEM1C; KIAA1785", "gene_names_refseq": "EUROIMAGE686608; EUROIMAGE783647; FEM1A; FEM1C", "protein_names_uniprotkb": "Protein fem-1 homolog C; FEM1-gamma; FEM1c", "protein_names_refseq": "FEM1-gamma; protein fem-1 homolog C", "tax_id": 9606, "disease": "", "pathway": " (hsa:56929); (R-HSA-8951664)", "pathway_count": 2, "publication_count": 157, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11069780;11259415;11292861;11292862;11454738;11585840;11733065;11733146;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12682069;12759363;12816948;14527725;14690597;14757770;15282312;15361859;15367669;15537541;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16647857;16707496;16790436;16943200;16959974;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18757445;18775313;18776931;18805092;18826954;18851830;18926707;19250909;19321346;19617556;19748355;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;22959436;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24190977;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25418920;25531226;25576301;26138980;26344709;26375851;26460955;26632597;26906416;26992070;27030794;27222660;27565346;27600516;27920218;28115426;28118078;28218747;28446606;28832583;28834231;28904123;29153394;29393594;29437277;29557506;29632046;29775578;29779948;30379171;30410026;30429286;30610225;30720688;31154438;31217245;31844290;32005965;32157095;32161166;32265295;32284348;32387766;32488085;32938616;32983136;33398168;33398170;33444648;33537174;33592498;33968037;34087483;34171305;34932366;35051231;35318648;35580925;36336956;38326650;9790970;9887101;9891082", "class_list": "", "function": "FEM1 proteins are ancient regulators of Stem-Loop Binding Protein., [RefSeq, PubMed]; Molecular basis for arginine C-terminal degron recognition by Cul2(FEM1) E3 ligase., [RefSeq, PubMed]; Molecular basis for ubiquitin ligase CRL2(FEM1C)-mediated recognition of C-degron., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; SENP6 and FEM1C gene expression in liver transplantation predicts transplantation tolerance., [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:33398168, PubMed:33398170, PubMed:38326650). 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:33398168, PubMed:33398170). The CRL2(FEM1C) complex specifically recognizes proteins with an arginine at the C-terminus: recognizes and binds proteins ending with -Lys/Arg-Xaa-Arg and -Lys/Arg-Xaa-Xaa-Arg C-degrons, such as SIL1 or OR51B2, leading to their ubiquitination and degradation (PubMed:33398168, PubMed:33398170, PubMed:38326650). The CRL2(FEM1C) complex mediates ubiquitination and degradation of truncated MSRB1/SEPX1 selenoproteins produced by failed UGA/Sec decoding (PubMed:26138980). Promotes ubiquitination and degradation of SLBP (PubMed:28118078)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The identification of a human homolog of this conserved gene suggests a potential role for this sex-determining molecule 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": 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": 15, "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": "B2RE47;Q8N3V8;Q9H704;Q9NPL6;Q9NPL9", "ec_number_list": [], "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0000151 ubiquitin ligase complex;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": 16.1, "record_id": "Q96JP0-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96LA6-1", "uniprot_id": [ { "id": "FCRL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96LA6", "type": "external" } ], "mass": 46936.0, "length": 429, "protein_name": "Fc receptor-like protein 1", "gene_name": "FCRL1", "organism": "Human", "refseq_name": "Fc receptor-like protein 1 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001152869", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001152869", "type": "external" } ], "gene_names_uniprotkb": "FCRL1; FCRH1; IFGP1; IRTA5", "gene_names_refseq": "CD307a; FCRH1; FCRL1; IFGP1; IRTA5", "protein_names_uniprotkb": "Fc receptor-like protein 1; Fc receptor homolog 1; FcR-like protein 1; FcRH1; FcRL1; IFGP family protein 1; Immune receptor translocation-associated protein 5; hIFGP1", "protein_names_refseq": "Fc receptor-like protein 1 isoform 2 precursor; IFGP family protein 1; fc receptor homolog 1; fcR-like protein 1; hIFGP1; immune receptor translocation-associated protein 5; immunoglobulin superfamily Fc receptor, gp42", "tax_id": 9606, "disease": "", "pathway": " (hsa:115350)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11493702;11929751;12037601;15479727;16849395;24190977;25738996;26992070;29557506;31819081;31844290;32387766;32983136;33597097;34171305;34697226;36284347;37822931", "class_list": "", "function": "A Gene-Environment Interaction Between Smoking and Gene polymorphisms Provides a High Risk of Two Subgroups of Sarcoidosis. Publication Status: Online-Only, [RefSeq, PubMed]; Expression profile of Fc receptor-like molecules in patients with IgA nephropathy., [RefSeq, PubMed]; FCRL1 Regulates B Cell Receptor-Induced ERK Activation through GRB2., [RefSeq, PubMed]; FCRL1 gene expression down-regulates in both Hashimoto and Graves disease patients compared to normal subjects., [RefSeq, PubMed]; FCRL1 immunoregulation in B cell development and malignancy. Review article Publication Status: Online-Only, [RefSeq, PubMed]; FcRH1 thus has the potential to serve as an activating coreceptor on B cells., [RefSeq, PubMed]; This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein contains three extracellular C2-like immunoglobulin domains, a transmembrane domain and a cytoplasmic domain with two immunoreceptor-tyrosine activation motifs. This protein may play a role in the regulation of cancer cell growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]., [RefSeq]; Type I transmembrane surface glycoprotein preferentially expressed by B-cells that regulates BCR-mediated signaling responses (PubMed:15479727). Recruits ABL1 as the intracellular effector molecule to enhance B-cell activation (By similarity). Also plays a negative role by suppressing ERK activation under homeostatic and BCR-stimulated conditions in a GRB2-dependent manner (By similarity)., [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": 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": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2RE05;Q8N759;Q8NDI0;Q96PJ6", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0015026 coreceptor activity", "go_cellular_component": "GO:0009986 cell surface;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", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q96LA6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000001000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96M78-1", "uniprot_id": [ { "id": "FEAS2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96M78", "type": "external" } ], "mass": 15528.0, "length": 137, "protein_name": "Putative uncharacterized protein encoded by FER1L6-AS2", "gene_name": "FER1L6-AS2", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "FER1L6-AS2; C8orf78", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by FER1L6-AS2; FER1L6 antisense RNA 2; FER1L6 antisense gene protein 2", "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": "Q96M78-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96PJ5-1", "uniprot_id": [ { "id": "FCRL4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96PJ5", "type": "external" } ], "mass": 57224.0, "length": 515, "protein_name": "Fc receptor-like protein 4", "gene_name": "FCRL4", "organism": "Human", "refseq_name": "Fc receptor-like protein 4 precursor", "refseq_ac": [ { "id": "NP_112572", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112572", "type": "external" } ], "gene_names_uniprotkb": "FCRL4; FCRH4; IFGP2; IRTA1", "gene_names_refseq": "CD307d; FCRH4; FCRL4; IGFP2; IRTA1", "protein_names_uniprotkb": "Fc receptor-like protein 4; Fc receptor homolog 4; FcR-like protein 4; FcRH4; FcRL4; IFGP family protein 2; Immune receptor translocation-associated protein 1; hIFGP2", "protein_names_refseq": "Fc receptor-like protein 4 precursor; IFGP family protein 2; fc receptor homolog 4; fc receptor-like protein 4; fcR-like protein 4; hIFGP2; immune receptor translocation-associated protein 1; immunoglobulin superfamily Fc receptor, gp42; immunoglobulin superfamily receptor translocation associated 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:83417)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11290337;11493702;11929751;12037601;12619161;12881317;14597715;16079106;16157685;16849395;29242379;32805738;33298915;33912179;34168653;34309899;34357683;35051231;35154160;35494241;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]; IRTA1 positivity helps identify a MALT-lymphoma-like subset of primary cutaneous marginal zone lymphomas, largely but not exclusively defined by IgM expression., [RefSeq, PubMed]; May function as an inhibitor of the B-cell receptor signaling. May function in the B-cell-mediated immune response., [UniProtKB, PubMed]; Role of IRTA1 in the immune function of B cells within epithelia, [RefSeq, PubMed]; The Multiple Roles of B Cells in the Pathogenesis of Sjogren's Syndrome. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein has four extracellular C2-type immunoglobulin domains, a transmembrane domain and a cytoplasmic domain that contains three immune-receptor tyrosine-based inhibitory motifs. This protein may play a role in the function of memory B-cells in the epithelia. Aberrations in the chromosomal region encoding this gene are associated with non-Hodgkin lymphoma and multiple myeloma. [provided by RefSeq, Apr 2009]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_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": 1, "reported_mutagensis": 3, "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": "Q96PJ3;Q96RE0", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity", "go_cellular_component": "GO:0009986 cell surface;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0006955 immune response;GO:0007166 cell surface receptor signaling pathway;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q96PJ5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BTA0-1", "uniprot_id": [ { "id": "F167B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BTA0", "type": "external" } ], "mass": 18414.0, "length": 163, "protein_name": "Protein FAM167B", "gene_name": "FAM167B", "organism": "Human", "refseq_name": "protein FAM167B", "refseq_ac": [ { "id": "NP_116037", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_116037", "type": "external" } ], "gene_names_uniprotkb": "FAM167B; C1orf90", "gene_names_refseq": "C1orf90; DIORA-2; FAM167B", "protein_names_uniprotkb": "Protein FAM167B", "protein_names_refseq": "disordered autoimmunity 2; protein FAM167B", "tax_id": 9606, "disease": "", "pathway": " (hsa:84734)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "19913121;20628086;25418920;26992070;27600516;27862975;28063628;29393594;29557506;29632046;30315122;30429286;31154438;31844290;31848261;32157095;32265295;32387766;32488085;35051231", "class_list": "", "function": "Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5TDH6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q9BTA0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NRD0-1", "uniprot_id": [ { "id": "FBX8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NRD0", "type": "external" } ], "mass": 37068.0, "length": 319, "protein_name": "F-box only protein 8", "gene_name": "FBXO8", "organism": "Human", "refseq_name": "F-box only protein 8", "refseq_ac": [ { "id": "NP_036312", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036312", "type": "external" } ], "gene_names_uniprotkb": "FBXO8; DC10; FBS; FBX8; PRO4320", "gene_names_refseq": "DC10; FBS; FBX8; FBXO8", "protein_names_uniprotkb": "F-box only protein 8; F-box/SEC7 protein FBS", "protein_names_refseq": "F-box only protein 8; F-box protein Fbx8; F-box/SEC7 protein FBS", "tax_id": 9606, "disease": "", "pathway": " (hsa:26269)", "pathway_count": 1, "publication_count": 47, "publication_id_list": "10531035;10945468;11237011;12975309;16959974;18987618;23481700;24366607;24715725;25576301;25645385;25880248;26375851;27916606;27920218;28218747;28228285;28514659;28904123;29242379;30315122;30524438;30779550;31024008;31844290;32157095;32357974;32387766;32488085;32796813;32897882;32938616;32983136;33298915;33592498;33968037;33981976;34087483;34171305;34405274;34509645;35051231;35580925;36010968;36215666;37938771;38301858", "class_list": "", "function": "FBX8 as a metastasis suppressor that functions through mTOR signaling pathway and has significant prognostic power., [RefSeq, PubMed]; FBX8 directly targets GSTP1 for ubiquitin-mediated proteasome degradation in colorectal carcinoma. The inactivation of FBX8 negatively correlated with increased levels and stability of GSTP1 in clinical CRC tissues and FBX8 knockout transgenic mice. Publication Status: Online-Only, [RefSeq, PubMed]; FBX8 promotes metastatic dormancy of colorectal cancer in liver. Publication Status: Online-Only, [RefSeq, PubMed]; FBXO8 is a novel prognostic biomarker in different molecular subtypes of breast cancer and suppresses breast cancer progression by targeting c-MYC., [RefSeq, PubMed]; May promote guanine-nucleotide exchange on an ARF. Promotes the activation of ARF through replacement of GDP with GTP (Potential)., [UniProtKB]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. It contains a C-terminal amino acid sequence that bears a significant similarity with a portion of yeast Sec7p, a critical regulator of vesicular protein transport. This human protein may interact with ADP-ribosylation factor(s)(ARFs) and exhibit ARF-GEF (guanine nucleotide exchange factor) activity. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B2RB40;D3DP41;G5E9Z0;Q6UWN4;Q8IWE1;Q9NRP5;Q9UKC4", "ec_number_list": [], "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0000151 ubiquitin ligase complex", "go_biological_process": "GO:0016192 vesicle-mediated transport;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0032012 regulation of ARF protein signal transduction;GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q9NRD0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NSA1-1", "uniprot_id": [ { "id": "FGF21_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NSA1", "type": "external" } ], "mass": 22300.0, "length": 209, "protein_name": "Fibroblast growth factor 21", "gene_name": "FGF21", "organism": "Human", "refseq_name": "fibroblast growth factor 21 precursor", "refseq_ac": [ { "id": "NP_061986", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061986", "type": "external" } ], "gene_names_uniprotkb": "FGF21; PRO10196", "gene_names_refseq": "FGF21", "protein_names_uniprotkb": "Fibroblast growth factor 21; FGF-21", "protein_names_refseq": "fibroblast growth factor 21 precursor", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 47 (Disease Ontology:DOID:0080425); atherosclerosis (Disease Ontology:DOID:1936); chronic kidney disease (Disease Ontology:DOID:784); steatotic liver disease (Disease Ontology:DOID:9452)", "pathway": " (hsa:26291); (R-HSA-189200); (R-HSA-8963889)", "pathway_count": 3, "publication_count": 88, "publication_id_list": "10821868;10858549;10860667;10900462;10970791;10987651;11133510;11245466;11247674;11425315;11583593;11681785;11741323;11780755;11832379;11994746;12504846;12590146;12885248;12975309;1301939;1415574;14614622;14739288;14997204;15033637;15284087;15340161;15607332;15800215;15902306;16109723;16154905;16550171;17050778;17068132;17088546;17452648;1756912;17623664;17635959;17883852;17994020;17997385;18063724;18327257;18829467;19117008;1918382;19304573;19361614;20094046;20356926;20581395;20616166;21107422;21666694;21719679;21844202;21940664;22212718;22262056;22521588;22569073;22740495;23020258;23150577;24397894;24909692;24960069;25387803;2656669;26650681;26933753;26934567;26934667;38959886;38991938;39226764;39341924;7592670;8020465;8457197;8485124;9136889;9354798;9379936;9751501", "class_list": "glycogene", "function": "Effect of Fibroblast Growth Factor (FGF) 19 and 21 on Hip Geometry and Strength in Post-menopausal Osteoporosis (PMO)., [RefSeq, PubMed]; Fibroblast growth factor 21. Review article, [RefSeq, PubMed]; Klotho beta functions as a cofactor essential for FGF21 activity, [RefSeq, PubMed]; Liver-secreted FGF21 induces sarcopenia by inhibiting satellite cell myogenesis via klotho beta in decompensated cirrhosis., [RefSeq, PubMed]; Stimulates glucose uptake in differentiated adipocytes via the induction of glucose transporter SLC2A1/GLUT1 expression (but not SLC2A4/GLUT4 expression). Activity requires the presence of KLB. Regulates systemic glucose homeostasis and insulin sensitivity., [UniProtKB, PubMed, UniProtKB, PubMed]; Theis gene encodes a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes. This protein is a secreted endocrine factor that functions as a major metabolic regulator. The encoded protein stimulates the uptake of glucose in adipose tissue. [provided by RefSeq, Mar 2016]., [RefSeq]; Weight-loss maintenance is accompanied by interconnected alterations in circulating FGF21-adiponectin-leptin and bioactive sphingolipids., [RefSeq, PubMed]; When administered daily for 6 wk to diabetic rhesus monkeys, FGF-21 caused a dramatic decline in fasting plasma glucose, fructosamine, triglycerides, insulin, and glucagon., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8N683", "ec_number_list": [], "go_molecular_function": "GO:0008083 growth factor activity;GO:0005104 fibroblast growth factor receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm", "go_biological_process": "GO:0007165 signal transduction;GO:0007267 cell-cell signaling;GO:0008284 positive regulation of cell population proliferation;GO:0043410 positive regulation of MAPK cascade;GO:0070374 positive regulation of ERK1 and ERK2 cascade", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q9NSA1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UH90-1", "uniprot_id": [ { "id": "FBX40_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UH90", "type": "external" } ], "mass": 79782.0, "length": 709, "protein_name": "F-box only protein 40", "gene_name": "FBXO40", "organism": "Human", "refseq_name": "F-box only protein 40", "refseq_ac": [ { "id": "NP_057382", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057382", "type": "external" } ], "gene_names_uniprotkb": "FBXO40; FBX40; KIAA1195", "gene_names_refseq": "FBX40; FBXO40", "protein_names_uniprotkb": "F-box only protein 40; Muscle disease-related protein", "protein_names_refseq": "F-box only protein 40; muscle disease-related protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:51725); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 134, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11062501;11069780;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;17928169;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22898188;22959436;23201271;23333871;23401859;23453757;23481700;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25531226;26344709;26460955;26632597;26906416;27030794;27222660;27565346;28115426;29153394;29557506;30451992;30610225;32005965;32161166;32284348;33444648;35051231;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "FBXO40 may function as a regulator involved in the postnatal myogenesis., [RefSeq, PubMed]; Members of the F-box protein family, such as FBXO40, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]., [RefSeq]; Probable substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex that may function in myogenesis., [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": 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": "B2RAX7;Q32M70;Q9ULM5", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0042692 muscle cell differentiation;GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 13.5, "record_id": "Q9UH90-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C1H6-1", "uniprot_id": [ { "id": "H2BFM_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C1H6", "type": "external" } ], "mass": 17001.0, "length": 154, "protein_name": "Histone H2B type F-M", "gene_name": "H2BW2", "organism": "Human", "refseq_name": "histone H2B type F-M", "refseq_ac": [ { "id": "NP_001157888", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157888", "type": "external" } ], "gene_names_uniprotkb": "H2BW2; H2BFM", "gene_names_refseq": "H2B/s; H2BFM; H2BM; H2BW2", "protein_names_uniprotkb": "Histone H2B type F-M; H2B/s; Histone H2B.s", "protein_names_refseq": "H2B histone family member M; H2B.M histone; histone H2B type F-M; histone H2B.s", "tax_id": 9606, "disease": "", "pathway": " (hsa:286436)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;37217939", "class_list": "", "function": "Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling., [UniProtKB]; Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a replication-independent histone that is a member of the H2B histone family. [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": 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": "A6NP82", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0046982 protein heterodimerization activity;GO:0030527 structural constituent of chromatin", "go_cellular_component": "GO:0005634 nucleus;GO:0000786 nucleosome", "go_biological_process": "GO:0006325 chromatin organization", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "P0C1H6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BTY7-1", "uniprot_id": [ { "id": "HGH1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BTY7", "type": "external" } ], "mass": 42129.0, "length": 390, "protein_name": "Co-chaperone protein HGH1 homolog", "gene_name": "HGH1", "organism": "Human", "refseq_name": "co-chaperone protein HGH1 homolog", "refseq_ac": [ { "id": "NP_057542", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057542", "type": "external" } ], "gene_names_uniprotkb": "HGH1; C8orf30A; C8orf30B; FAM203A; FAM203B", "gene_names_refseq": "BRP16L; BRP16; C8orf30A; C8orf30B; FAM203A; FAM203B; HGH1", "protein_names_uniprotkb": "Co-chaperone protein HGH1 homolog", "protein_names_refseq": "brain protein 16-like; brain protein 16; co-chaperone protein HGH1 homolog; family with sequence similarity 203, member A; family with sequence similarity 203, member B; protein FAM203A; protein FAM203B; protein HGH1 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:51236)", "pathway_count": 1, "publication_count": 47, "publication_id_list": "11237011;18669648;20068231;22706990;23186163;23301498;23481700;25576301;26992070;27862975;27920218;28228285;28649982;28832583;28904123;29242379;29437277;29557506;29786170;29789417;30410026;30429286;30484775;30833945;31154438;31844290;31848261;31998317;32157095;32350084;32387766;32488085;32938616;32983136;33141586;33298915;33912179;33968037;34171305;34211107;34509645;35051231;35132862;35318648;35561310;38844963;40914422", "class_list": "", "function": "Co-chaperone involved in the folding of nascent eukaryotic elongation factor eEF2, an essential component of the translation machinery. Recognizes a non-native conformation in the central domain of eEF2 and recruits the chaperonin-containing T-complex (TRiC) to the C-terminal region of the nascent polypeptide, preventing unproductive interactions and promoting efficient folding of the N-terminal GTPase domain. May also assist in eEF2 maturation by recruiting the molecular chaperone Hsp90., [UniProtKB, UniProtKB]; NSUN2/YBX1 promotes the progression of breast cancer by enhancing HGH1 mRNA stability through m[5]C methylation. 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": 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": "P0CB43", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q9BTY7-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60814-1", "uniprot_id": [ { "id": "H2B1K_HUMAN", "url": "https://www.uniprot.org/uniprot/O60814", "type": "external" } ], "mass": 13890.0, "length": 126, "protein_name": "Histone H2B type 1-K", "gene_name": "H2BC12", "organism": "Human", "refseq_name": "histone H2B type 1-K", "refseq_ac": [ { "id": "NP_001299582", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001299582", "type": "external" } ], "gene_names_uniprotkb": "H2BC12; H2BFT; HIRIP1; HIST1H2BK", "gene_names_refseq": "H2B/S; H2BC12; H2BFAiii; H2BFT; H2BK; HIST1H2BK", "protein_names_uniprotkb": "Histone H2B type 1-K; H2B K; HIRA-interacting protein 1", "protein_names_refseq": "H2B K; H2B histone family, member T; HIRA-interacting protein 1; histone 1, H2bk; histone H2B type 1-K; histone cluster 1 H2B family member k; histone cluster 1, H2bk; histone family member", "tax_id": 9606, "disease": "", "pathway": " (hsa:85236); (R-HSA-110328); (R-HSA-110329); (R-HSA-110330); (R-HSA-110331); (R-HSA-1221632); (R-HSA-171306); (R-HSA-1912408); (R-HSA-201722); (R-HSA-212300); (R-HSA-2299718); (R-HSA-2559580); (R-HSA-2559582); (R-HSA-2559586); (R-HSA-3214815); (R-HSA-3214847); (R-HSA-427359); (R-HSA-427389); (R-HSA-427413); (R-HSA-5250924); (R-HSA-5334118); (R-HSA-5578749); (R-HSA-5617472); (R-HSA-5625886); (R-HSA-5689880); (R-HSA-5693565); (R-HSA-5693571); (R-HSA-5693607); (R-HSA-606279); (R-HSA-68616); (R-HSA-69473); (R-HSA-73728); (R-HSA-73772); (R-HSA-8866654); (R-HSA-8936459); (R-HSA-8939236); (R-HSA-9018519); (R-HSA-912446); (R-HSA-9609690); (R-HSA-9610379); (R-HSA-9616222); (R-HSA-9670095); (R-HSA-9710421); (R-HSA-9764725); (R-HSA-977225); (R-HSA-9821002); (R-HSA-9821993); (R-HSA-9841922); (R-HSA-9843940); (R-HSA-9843970); (R-HSA-9845323); (R-HSA-9909649); (R-HSA-9918481); (R-HSA-9937850); (R-HSA-9940465); (R-HSA-9940951); (R-HSA-9943411); (R-HSA-9943962); (R-HSA-9970672)", "pathway_count": 59, "publication_count": 1270, "publication_id_list": 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"class_list": "", "function": "Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling., [UniProtKB]; Has broad antibacterial activity. May contribute to the formation of the functional antimicrobial barrier of the colonic epithelium, and to the bactericidal activity of amniotic fluid., [UniProtKB]; Histone H2B antimicrobial peptides exhibit antibacterial activity and contribute to the formation of the antimicrobial barrier of the colonic epithelium, [RefSeq, PubMed]; Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a replication-dependent histone that is a member of the histone H2B family. The protein encoded is an antimicrobial protein with antibacterial and antifungal activity. Two transcripts that encode the same protein have been identified for this gene, which is found in the histone microcluster on chromosome 6p21.33. [provided by RefSeq, Aug 2015]., [RefSeq]; The physical interaction between lipin1 and eEF1A1 was further affirmed in 293T cells transfected with 6-His tagged lipin1 and hepatocyte SMMC7721 cells by protein immunoprecipitation and immunofluorescence microscopy. Lipin1 also interacted with HIST1H2BK, which was confirmed in SMMC7721 cells by protein immunoprecipitation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 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": 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": 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": "A8K7P7;Q2VPI7", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0046982 protein heterodimerization activity;GO:0030527 structural constituent of chromatin", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000786 nucleosome", "go_biological_process": "GO:0019731 antibacterial humoral response;GO:0050829 defense response to Gram-negative bacterium;GO:0050830 defense response to Gram-positive bacterium;GO:0061844 antimicrobial humoral immune response mediated by antimicrobial peptide;GO:0006325 chromatin organization", "synthesized_glycan_count": 0, "hit_score": 127.4, "record_id": "O60814-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P02790-1", "uniprot_id": [ { "id": "HEMO_HUMAN", "url": "https://www.uniprot.org/uniprot/P02790", "type": "external" } ], "mass": 51676.0, "length": 462, "protein_name": "Hemopexin", "gene_name": "HPX", "organism": "Human", "refseq_name": "hemopexin precursor", "refseq_ac": [ { "id": "NP_000604", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000604", "type": "external" } ], "gene_names_uniprotkb": "HPX", "gene_names_refseq": "HPX; HX", "protein_names_uniprotkb": "Hemopexin; Beta-1B-glycoprotein", "protein_names_refseq": "beta-1B-glycoprotein; epididymis secretory sperm binding protein; hemopexin precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:3263); (R-HSA-2168880)", "pathway_count": 2, "publication_count": 103, "publication_id_list": "10.1021/acs.analchem.6b02887;10.1101/2023.09.13.557529;1008494;10381560;11196644;11877257;1252417;13342742;13472068;14760718;15084671;15448162;15542058;15697213;15947085;16046400;16189277;16335952;1646599;16740002;16778136;17008602;17102136;17845074;18211098;18514042;18556779;19139490;19159218;19324878;19650691;19838169;20430887;20610401;20920479;22492620;22922649;23090970;23234360;24279413;24417605;24530628;24841998;25265424;26598643;26791533;27452731;27726376;27862975;28035807;2806549;2833500;2842511;29242379;29391424;29427759;29557506;29632711;29671580;29741879;29786170;29789417;2989777;29992770;30237853;30429286;30459171;30524438;31154438;31844290;32125861;32157095;3220477;32983136;33091337;33123756;34564750;34725484;34932366;35051231;35470713;35494241;35580925;36284347;37074911;37899696;37938771;3855550;3891754;4074707;4327491;496916;5135507;6371807;6480598;6510521;6849882;7263686;7287740;7378053;8424694;8855948;971416", "class_list": "", "function": "Binds heme and transports it to the liver for breakdown and iron recovery, after which the free hemopexin returns to the circulation., [UniProtKB]; Evaluation of the relationship between intravascular hemolysis and clinical manifestations in sickle cell disease: decreased hemopexin during vaso-occlusive crises and increased inflammation in acute chest syndrome., [RefSeq, PubMed]; Free heme and hemopexin in acute kidney injury after cardiopulmonary bypass and transient renal ischemia., [RefSeq, PubMed]; Heme oxygenase-1 and hemopexin gene polymorphisms and the risk of anti-tuberculosis drug-induced hepatotoxicity in China., [RefSeq, PubMed]; This gene encodes a plasma glycoprotein that binds heme with high affinity. The encoded protein is an acute phase protein that transports heme from the plasma to the liver and may be involved in protecting cells from oxidative stress. [provided by RefSeq, Apr 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 6, "reported_o_glycosites": 2, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 236, "disease_count": 0, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "B2R957", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0015232 heme transmembrane transporter activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome;GO:0072562 blood microparticle", "go_biological_process": "GO:0006879 intracellular iron ion homeostasis;GO:0015886 heme transport;GO:0042168 heme metabolic process", "synthesized_glycan_count": 0, "hit_score": 35.2, "record_id": "P02790-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100100000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P09341-1", "uniprot_id": [ { "id": "GROA_HUMAN", "url": "https://www.uniprot.org/uniprot/P09341", "type": "external" } ], "mass": 11301.0, "length": 107, "protein_name": "Growth-regulated alpha protein", "gene_name": "CXCL1", "organism": "Human", "refseq_name": "growth-regulated alpha protein precursor", "refseq_ac": [ { "id": "NP_001502", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001502", "type": "external" } ], "gene_names_uniprotkb": "CXCL1; GRO1; GROA; GRO; MGSA; SCYB1", "gene_names_refseq": "CXCL1; FSP; GRO1; GROa; MGSA-a; MGSA; NAP-3; SCYB1", "protein_names_uniprotkb": "Growth-regulated alpha protein; C-X-C motif chemokine 1; GRO-alpha(1-73); MGSA; Melanoma growth stimulatory activity; NAP-3; Neutrophil-activating protein 3", "protein_names_refseq": "C-X-C motif chemokine 1; GRO-alpha(1-73); GRO1 oncogene (melanoma growth stimulating activity, alpha); GRO1 oncogene (melanoma growth-stimulating activity); MGSA alpha; chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha); fibroblast secretory protein; growth-regulated alpha protein precursor; growth-regulated alpha protein; melanoma growth stimulatory activity alpha; neutrophil-activating protein 3", "tax_id": 9606, "disease": "aspiration pneumonia (Disease Ontology:DOID:0050152); stroke (Disease Ontology:DOID:0051061); alcohol-associated liver disease (Disease Ontology:DOID:0070658); Coronavirus infectious disease (Disease Ontology:DOID:0080599); acute necrotizing pancreatitis (Disease Ontology:DOID:0080998); common cold (Disease Ontology:DOID:10459); 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); asthma (Disease Ontology:DOID:2841); severe acute respiratory syndrome (Disease Ontology:DOID:2945); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); esophageal cancer (Disease Ontology:DOID:5041); pneumonia (Disease Ontology:DOID:552); lung disease (Disease Ontology:DOID:850); bacterial pneumonia (Disease Ontology:DOID:874); hyperhomocysteinemia (Disease Ontology:DOID:9279)", "pathway": " (hsa:2919); (R-HSA-380108); (R-HSA-418594); (R-HSA-6783783); (R-HSA-6798695)", "pathway_count": 5, "publication_count": 117, "publication_id_list": "10092818;10095777;10229797;10415057;10433356;10640743;10706668;10725696;10725697;10781587;11007482;11060282;12120503;12149255;12554737;12554859;12626585;12832402;12884299;12949249;1460289;15067078;15340161;15919823;15951850;16107333;16634148;16923326;16982608;1744577;1755384;1840701;18434541;18577758;1891716;1940369;1940799;20002784;20145033;2078213;2129556;2182761;2217207;23650620;2423119;24743777;2534964;2655583;2670560;2748346;2834384;2890161;2970963;3098319;32488085;3260265;38670307;38724465;7510216;7512027;7512451;7516408;7543512;7593617;7594602;7602097;7622448;7642634;7679328;7684412;7687627;7806518;7851893;7875320;7902377;7937899;8015379;8048929;8063757;8089846;8102388;8120391;8163946;8186324;8301137;8383238;8397104;8406495;8537680;8639485;8662928;8692836;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": "Acetyl-CoA metabolic accumulation promotes hepatocellular carcinoma metastasis via enhancing CXCL1-dependent infiltration of tumor-associated neutrophils., [RefSeq, PubMed]; CD276 regulates the immune escape of esophageal squamous cell carcinoma through CXCL1-CXCR2 induced NETs. Publication Status: Online-Only, [RefSeq, PubMed]; Has chemotactic activity for neutrophils. May play a role in inflammation and exerts its effects on endothelial cells in an autocrine fashion. In vitro, the processed forms GRO-alpha(4-73), GRO-alpha(5-73) and GRO-alpha(6-73) show a 30-fold higher chemotactic activity., [UniProtKB, PubMed]; This antimicrobial gene encodes a member of the CXC subfamily of chemokines. The encoded protein is a secreted growth factor that signals through the G-protein coupled receptor, CXC receptor 2. This protein plays a role in inflammation and as a chemoattractant for neutrophils. Aberrant expression of this protein is associated with the growth and progression of certain tumors. A naturally occurring processed form of this protein has increased chemotactic activity. Alternate splicing results in coding and non-coding variants of this gene. A pseudogene of this gene is found on chromosome 4. [provided by RefSeq, Sep 2014]., [RefSeq]; This protein displays antimicrobial activity against E. coli and S. aureus., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 21, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9UCR7", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0008047 enzyme activator activity;GO:0008083 growth factor activity;GO:0008009 chemokine activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0035580 specific granule lumen;GO:1904724 tertiary granule lumen", "go_biological_process": "GO:0006935 chemotaxis;GO:0006954 inflammatory response;GO:0006955 immune response;GO:0007165 signal transduction;GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 11.8, "record_id": "P09341-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P30550-1", "uniprot_id": [ { "id": "GRPR_HUMAN", "url": "https://www.uniprot.org/uniprot/P30550", "type": "external" } ], "mass": 43199.0, "length": 384, "protein_name": "Gastrin-releasing peptide receptor", "gene_name": "GRPR", "organism": "Human", "refseq_name": "gastrin-releasing peptide receptor", "refseq_ac": [ { "id": "NP_005305", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005305", "type": "external" } ], "gene_names_uniprotkb": "GRPR", "gene_names_refseq": "BB2R; BB2; BRS2; GRPR", "protein_names_uniprotkb": "Gastrin-releasing peptide receptor; GRP-R; GRP-preferring bombesin receptor", "protein_names_refseq": "GRP-R; GRP-preferring bombesin receptor; bombesin receptor 2; gastrin-releasing peptide receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:2925); (R-HSA-375276); (R-HSA-416476)", "pathway_count": 3, "publication_count": 132, "publication_id_list": "10079109;10100623;10191087;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10567430;10604470;10727532;10854085;10861009;10899166;11015615;11245983;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;2649896;27496565;28351312;2841328;28467828;29242379;29557506;3086311;31025163;31530632;31844290;3202875;33298915;3366244;33968037;34610277;35051231;3525564;35580925;36876522;37409771;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": "GRP/GRPR enhances alcohol-associated liver injury through the IRF1-mediated Caspase-1 inflammasome and NOX2-dependent ROS pathway., [RefSeq, PubMed]; Gastrin-releasing peptide (GRP) regulates numerous functions of the gastrointestinal and central nervous systems, including release of gastrointestinal hormones, smooth muscle cell contraction, and epithelial cell proliferation and is a potent mitogen for neoplastic tissues. The effects of GRP are mediated through the gastrin-releasing peptide receptor. This receptor is a glycosylated, 7-transmembrane G-protein coupled receptor that activates the phospholipase C signaling pathway. The receptor is aberrantly expressed in numerous cancers such as those of the lung, colon, and prostate. An individual with autism and multiple exostoses was found to have a balanced translocation between chromosome 8 and a chromosome X breakpoint located within the gastrin-releasing peptide receptor gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Microglia-neuron interactions promote chronic itch via the NLRP3-IL-1beta-GRPR axis., [RefSeq, PubMed]; Novel Gastrin-Releasing Peptide Receptor Targeted Near-Infrared Fluorescence Dye for Image-Guided Surgery of Prostate Cancer., [RefSeq, PubMed]; Our results suggest that, similar to what happens in neutrophils, gastrin-releasing peptide is a migratory, rather than a proliferative, stimulus, for non-small cell lung carcinoma cells, indicating a putative role for gastrin-releasing peptide and gastrin-releasing peptide receptor in metastasis, [RefSeq, PubMed]; Receptor for gastrin-releasing peptide (GRP) (PubMed:1655761). Signals via association with G proteins that activate a phosphatidylinositol-calcium second messenger system, resulting in Akt phosphorylation. Contributes to the regulation of food intake. Contributes to the perception of prurient stimuli and transmission of itch signals in the spinal cord that promote scratching behavior, but does not play a role in the perception of pain. Contributes primarily to nonhistaminergic itch sensation. In one study, shown to act in the amygdala as part of an inhibitory network which inhibits memory specifically related to learned fear (By similarity). In another study, shown to contribute to disinhibition of glutamatergic cells in the auditory cortex via signaling on vasoactive intestinal peptide-expressing cells which leads to enhanced auditory fear memories (By similarity). Contributes to the induction of sighing through signaling in the pre-Botzinger complex, a cluster of several thousand neurons in the ventrolateral medulla responsible for inspiration during respiratory activity (By similarity)., [UniProtKB, 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": 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": "B2R910", "ec_number_list": [], "go_molecular_function": "GO:0008528 G protein-coupled peptide receptor activity;GO:0008188 neuropeptide receptor activity;GO:0042923 neuropeptide binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007611 learning or memory;GO:0007200 phospholipase C-activating G protein-coupled receptor signaling pathway;GO:0035176 social behavior;GO:2000987 positive regulation of behavioral fear response", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "P30550-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49019-1", "uniprot_id": [ { "id": "HCAR3_HUMAN", "url": "https://www.uniprot.org/uniprot/P49019", "type": "external" } ], "mass": 44478.0, "length": 387, "protein_name": "Hydroxycarboxylic acid receptor 3", "gene_name": "HCAR3", "organism": "Human", "refseq_name": "hydroxycarboxylic acid receptor 3", "refseq_ac": [ { "id": "NP_006009", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006009", "type": "external" } ], "gene_names_uniprotkb": "HCAR3; GPR109B; HCA3; HM74B; NIACR2", "gene_names_refseq": "GPR109B; HCA3; HCAR3; HM74; PUMAG; Puma-g", "protein_names_uniprotkb": "Hydroxycarboxylic acid receptor 3; G protein-coupled receptor 109B; G protein-coupled receptor HM74B; G protein-coupled receptor HM74; Niacin receptor 2; Nicotinic acid receptor 2", "protein_names_refseq": "G-protein coupled receptor 109B; G-protein coupled receptor HM74B; G-protein coupled receptor HM74; GTP-binding protein; hydroxy-carboxylic acid receptor 3; hydroxycarboxylic acid receptor 3; niacin receptor 2; nicotinic acid receptor 2; putative chemokine receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:8843); (R-HSA-3296197); (R-HSA-418594)", "pathway_count": 3, "publication_count": 28, "publication_id_list": "11007482;12120503;12522134;12563315;15951850;16634148;16923326;18434541;18577758;18952058;19047060;19561068;21454438;2534964;27452731;2748346;2834384;29557506;29789417;34948292;34968686;37736747;38103827;39427321;7505609;7937899;8015379;8406495", "class_list": "", "function": "Alterations in Kynurenine and NAD(+) Salvage Pathways during the Successful Treatment of Inflammatory Bowel Disease Suggest HCAR3 and NNMT as Potential Drug Targets. Publication Status: Online-Only, [RefSeq, PubMed]; G protein-coupled receptor for 3-hydroxyoctanoate, a fatty acid beta-oxidation intermediate. Signals through the inhibitory G(i)/o family of G proteins (PubMed:19561068, PubMed:37736747, PubMed:39427321). Acts as a negative feedback regulator of adipocyte lipolysis, helping to counterbalance prolipolytic signals during physiological or pathological elevations in beta-oxidation (PubMed:19561068). Acts as a low affinity receptor for nicotinic acid. This pharmacological effect requires nicotinic acid doses that are much higher than those provided by a normal diet (PubMed:12522134)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; GPCR Screening Reveals that the Metabolite Receptor HCAR3 Regulates Epithelial Proliferation, Migration, and Cellular Respiration., [RefSeq, PubMed]; HM74 is highly expressed in adipose tissue and is a nicotinic acid receptor, [RefSeq, PubMed]; Hydroxycarboxylic acid receptor 3 and GPR84 - Two metabolite-sensing G protein-coupled receptors with opposing functions in innate immune 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": 8, "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": "A8K4G5;B2R830;E9PI97;Q8NGE4", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0070553 nicotinic acid receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0050995 negative regulation of lipid catabolic process", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "P49019-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51858-1", "uniprot_id": [ { "id": "HDGF_HUMAN", "url": "https://www.uniprot.org/uniprot/P51858", "type": "external" } ], "mass": 26788.0, "length": 240, "protein_name": "Hepatoma-derived growth factor", "gene_name": "HDGF", "organism": "Human", "refseq_name": "hepatoma-derived growth factor isoform b", "refseq_ac": [ { "id": "NP_001119522", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001119522", "type": "external" } ], "gene_names_uniprotkb": "HDGF; HMG1L2", "gene_names_refseq": "HDGF; HMG1L2", "protein_names_uniprotkb": "Hepatoma-derived growth factor; HDGF; HMG-1L2; High mobility group protein 1-like 2", "protein_names_refseq": "epididymis secretory sperm binding protein; hepatoma derived growth factor; hepatoma-derived growth factor isoform b; high mobility group protein 1-like 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:3068); (R-HSA-381038)", "pathway_count": 2, "publication_count": 134, "publication_id_list": "10601334;10827079;11237011;11751870;12204115;12972397;14729942;15302935;15345747;15466936;15491618;16461360;16539657;16807684;16964243;17081983;17270212;17287340;17322306;17487921;17974029;18088087;18212344;18318008;18331345;18452278;18491316;18510355;18664523;18669648;18691976;18707149;18767875;19367720;19369195;19413330;19415658;19562805;19608861;19651622;19664994;19664995;19690332;20058876;20068230;20068231;20166139;21087088;21282569;21406692;23186163;23301498;23481700;24275569;24715725;25114211;25218447;25576301;25645385;25772364;26154972;26375851;26768311;26845719;26992070;27846572;27920218;27926477;28063628;28228285;28832583;28860189;28904123;29142712;29242379;29393594;29508533;29557506;29632046;29632711;29786170;30192525;30315122;30410026;30429286;30779550;31154438;31222486;31530632;31611695;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33214551;33298915;33392160;33465208;33592498;33936100;33968037;34019948;34171305;34509645;34725712;35008409;35051231;35068341;35132862;35154160;35395072;35580925;36010968;36284347;36476884;38665916;39091133;39206979;40596516;40914422;7590364;7929202;8666242;9037597;9450183;9473480", "class_list": "", "function": "Acts as a transcriptional repressor (PubMed:17974029). Has mitogenic activity for fibroblasts (PubMed:11751870, PubMed:26845719). Heparin-binding protein (PubMed:15491618)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Binding Behavior of Human Hepatoma-Derived Growth Factor on SMYD1., [RefSeq, PubMed]; Does not have mitogenic activity for fibroblasts (PubMed:26845719). Does not bind heparin (PubMed:26845719)., [UniProtKB, PubMed]; Extracellular vesicle proteomic analysis leads to the discovery of HDGF as a new factor in multiple myeloma biology., [RefSeq, PubMed]; Has mitogenic activity for fibroblasts (PubMed:26845719). Heparin-binding protein (PubMed:26845719)., [UniProtKB, PubMed]; Hepatoma-derived growth factor stimulates cell growth after translocation to the nucleus, [RefSeq, PubMed]; May be involved in lung remodeling after injury, [RefSeq, PubMed]; Specificity protein 1-induced serine peptidase inhibitor, Kunitz Type 1 antisense RNA1 regulates colorectal cancer cell proliferation, migration, invasion and apoptosis through targeting heparin binding growth factor via sponging microRNA-214., [RefSeq, PubMed]; The m6A reader IGF2BP2 promotes ESCC progression by stabilizing HDGF mRNA., [RefSeq, PubMed]; This gene encodes a member of the hepatoma-derived growth factor family. The encoded protein has mitogenic and DNA-binding activity and may play a role in cellular proliferation and differentiation. High levels of expression of this gene enhance the growth of many tumors. This gene was thought initially to be located on chromosome X; however, that location has been determined to correspond to a related pseudogene. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2016]., [RefSeq]; [miR-29a-3p Targets Hepatoma-Derived Growth Factor to Inhibit the Proliferation and Promote the Apoptosis of E6-1 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": 11, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KU21;D3DVC9;Q5SZ07;Q5SZ08;Q5SZ09", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003779 actin binding;GO:0008201 heparin binding;GO:0000166 nucleotide binding;GO:0003714 transcription corepressor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0007165 signal transduction;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 13.7, "record_id": "P51858-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P54840-1", "uniprot_id": [ { "id": "GYS2_HUMAN", "url": "https://www.uniprot.org/uniprot/P54840", "type": "external" } ], "mass": 80989.0, "length": 703, "protein_name": "Glycogen [starch] synthase, liver", "gene_name": "GYS2", "organism": "Human", "refseq_name": "glycogen [starch] synthase, liver", "refseq_ac": [ { "id": "NP_068776", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068776", "type": "external" } ], "gene_names_uniprotkb": "GYS2", "gene_names_refseq": "GYS2", "protein_names_uniprotkb": "Glycogen [starch] synthase, liver; 2.4.1.11; Glycogen synthase 2", "protein_names_refseq": "glycogen [starch] synthase, liver; glycogen synthase 2 (liver)", "tax_id": 9606, "disease": "liver glycogen storage disease (Disease Ontology:DOID:0061271); glycogen storage disease (Disease Ontology:DOID:2747); Lafora disease (Disease Ontology:DOID:3534)", "pathway": " (hsa:2998); (R-HSA-3322077); (R-HSA-3858516); (R-HSA-3878781)", "pathway_count": 4, "publication_count": 47, "publication_id_list": "106027;141912;15452297;15930137;1731614;18040046;18070875;18174169;19699667;20068231;20357282;20538597;21356517;22233421;22248338;23663739;24029068;24275569;25416783;25538239;25544560;26216881;26960196;26992070;28245189;29557506;30584071;32779500;32897882;32938616;34783271;35051231;35580925;37217939;37574425;38253038;4829444;5348606;5427280;7902568;8203908;8534634;8613547;8631325;8831078;9346895;9691087", "class_list": "glycogene;glycosyltransferase", "function": "A patient with glycogen storage disease type 0 and a novel sequence variant in GYS2: a case report and literature review. Review article, [RefSeq, PubMed]; Findings suggest that GYS2 serves as a prognostic factor and functions as a tumor suppressor in HCC. The newly identified HBx/GYS2/p53 axis is responsible for the deregulation of glycogen metabolism., [RefSeq, PubMed]; Glycogen synthase participates in the glycogen biosynthetic process along with glycogenin and glycogen branching enzyme. Extends the primer composed of a few glucose units formed by glycogenin by adding new glucose units to it. In this context, glycogen synthase transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan., [UniProtKB, PubMed, PubMed]; Mutation in GYS2 gene is associated with hepatic glycogen synthase deficiency., [RefSeq, PubMed]; The protein encoded by this gene, liver glycogen synthase, catalyzes the rate-limiting step in the synthesis of glycogen - the transfer of a glucose molecule from UDP-glucose to a terminal branch of the glycogen molecule. Mutations in this gene cause glycogen storage disease type 0 (GSD-0) - a rare type of early childhood fasting hypoglycemia with decreased liver glycogen content. [provided by RefSeq, Dec 2009]., [RefSeq]; Value of glycogen synthase 2 in intrahepatic cholangiocarcinoma prognosis assessment and its influence on the activity of cancer cells., [RefSeq, PubMed]; Whole-Exome sequencing identifies GYS2 biallelic variants in individuals with suspected epilepsy., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1014, "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": "A0AVD8", "ec_number_list": [ { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "2.4.1.186", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.186", "type": "external" }, { "id": "2.4.1.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.11", "type": "external" }, { "id": "2.4.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.18", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" } ], "go_molecular_function": "GO:0004373 alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity;GO:0061547 glycogen synthase activity, transferring glucose-1-phosphate", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005938 cell cortex;GO:0030864 cortical actin cytoskeleton", "go_biological_process": "GO:0005978 glycogen biosynthetic process;GO:0009749 response to glucose", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "P54840-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P69892-1", "uniprot_id": [ { "id": "HBG2_HUMAN", "url": "https://www.uniprot.org/uniprot/P69892", "type": "external" } ], "mass": 16126.0, "length": 147, "protein_name": "Hemoglobin subunit gamma-2", "gene_name": "HBG2", "organism": "Human", "refseq_name": "hemoglobin subunit gamma-2", "refseq_ac": [ { "id": "NP_000175", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000175", "type": "external" } ], "gene_names_uniprotkb": "HBG2", "gene_names_refseq": "HBG-T1; HBG2; TNCY", "protein_names_uniprotkb": "Hemoglobin subunit gamma-2; Gamma-2-globin; Hb F Ggamma; Hemoglobin gamma-2 chain; Hemoglobin gamma-G chain", "protein_names_refseq": "G-gamma globin Paulinia; abnormal hemoglobin; fetal hemoglobin F subunit gamma 2; gamma-2-globin; gamma-globin chain; hb F Ggamma; hemoglobin gamma-2 chain; hemoglobin gamma-G chain; hemoglobin subunit gamma-2; hemoglobin, gamma G; methemoglobin", "tax_id": 9606, "disease": "delta beta-thalassemia (Disease Ontology:DOID:0080773); sickle cell anemia (Disease Ontology:DOID:10923); cyanosis, transient neonatal (MONDO:MONDO:0013511)", "pathway": " (hsa:3048); (R-HSA-983231)", "pathway_count": 2, "publication_count": 111, "publication_id_list": "10722114;10722115;11042108;11062261;11242053;1127124;11744692;11751636;11791877;11895428;11950885;12032298;12134158;12427746;14087393;15020713;15247287;15645283;15710388;16054028;1630448;16370494;17027967;1703138;1703139;1706691;1714434;17196961;1726095;19065339;19117535;19293402;20530532;20627800;21209280;21561349;218813;23186163;24029068;2420748;2435680;2442122;2442123;24502349;2459082;2459083;2470017;2483933;2579547;2581851;2581919;26845023;26992070;27726376;28467828;29557506;30315122;31154438;3120456;31217245;31611695;31998317;32157095;32373127;32502341;33141586;33968037;3409321;34341563;34509645;34535703;34561969;34569056;35051231;35251023;35580925;36010968;37217939;37318102;38332023;4429671;4837284;4846278;5554303;5792729;6172403;6186522;6186635;6186636;6192110;6206897;6814491;7250702;7438203;7558873;7713741;7741137;8144355;836882;8566966;8662638;8718700;8718701;8816476;881729;9065479;9230307;9326583;9331217;9422515;9927674", "class_list": "", "function": "Activation of gamma-globin gene expression by GATA1 and NF-Y in hereditary persistence of fetal hemoglobin., [RefSeq, PubMed]; Can We Estimate Late-Onset Sepsis by Serial Methemoglobin Levels? An Observational Study in Preterm Neonates., [RefSeq, PubMed]; Gamma chains make up the fetal hemoglobin F, in combination with alpha chains., [UniProtKB, PubMed, PubMed, PubMed]; Methemoglobin levels in malaria: a systematic review and meta-analysis of its association with Plasmodium falciparum and Plasmodium vivax infections and disease severity. Publication Status: Online-Only, [RefSeq, PubMed]; Novel variants in Krueppel like factor 1 that cause persistence of fetal hemoglobin in In(Lu) individuals. Publication Status: Online-Only, [RefSeq, PubMed]; TEA domain transcription factor 4 modulates repression of fetal haemoglobin by direct binding to the gamma-globin gene promoters., [RefSeq, PubMed]; The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5'- epsilon -- gamma-G -- gamma-A -- delta -- beta--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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8MZE0;P02096;P62027;Q14491;Q68NH9;Q96FH6;Q96FH7", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0020037 heme binding;GO:0031721 hemoglobin alpha binding;GO:0019825 oxygen binding;GO:0005344 oxygen carrier activity", "go_cellular_component": "GO:0005829 cytosol;GO:0072562 blood microparticle;GO:0005833 hemoglobin complex;GO:0031838 haptoglobin-hemoglobin complex", "go_biological_process": "GO:0015670 carbon dioxide transport;GO:0048821 erythrocyte development;GO:0015671 oxygen transport", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "P69892-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13003-1", "uniprot_id": [ { "id": "GRIK3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13003", "type": "external" } ], "mass": 104037.0, "length": 919, "protein_name": "Glutamate receptor ionotropic, kainate 3", "gene_name": "GRIK3", "organism": "Human", "refseq_name": "glutamate receptor ionotropic, kainate 3 precursor", "refseq_ac": [ { "id": "NP_000822", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000822", "type": "external" } ], "gene_names_uniprotkb": "GRIK3; GLUR7", "gene_names_refseq": "EAA5; GLR7; GLUR7; GRIK3; GluK3; GluR7a", "protein_names_uniprotkb": "Glutamate receptor ionotropic, kainate 3; EAA5; Excitatory amino acid receptor 5; GluK3; GluR-7; GluR7; Glutamate receptor 7", "protein_names_refseq": "dJ1090M5.1 (glutamate receptor, ionotropic, kainate 3 (GLUR7)); excitatory amino acid receptor 5; gluR-7; glutamate receptor 7; glutamate receptor ionotropic, kainate 3 precursor; glutamate receptor ionotropic, kainate 3", "tax_id": 9606, "disease": "neurodegenerative disease (Disease Ontology:DOID:1289); depressive disorder (Disease Ontology:DOID:1596)", "pathway": " (hsa:2899); (R-HSA-451308); (R-HSA-500657)", "pathway_count": 3, "publication_count": 26, "publication_id_list": "11124978;16959974;18691976;19342380;20007474;23481700;25645385;26375851;28005267;28631555;28834231;29557506;30429286;30568303;30977227;31154438;31848261;32387766;33968037;34127015;35051231;37938771;7719709;8128318;8782898;9625352", "class_list": "", "function": "Additional experiment showed that the lymph node metastasis tissues had higher GRIK3 expression than their matched primary gastric cancer (GC) tissues. These findings suggested that elevated GRIK3 expression could serve as an independent prognostic biomarker and a novel potential treatment target for patients with GC., [RefSeq, PubMed]; CircASXL1 knockdown represses the progression of colorectal cancer by downregulating GRIK3 expression by sponging miR-1205. Publication Status: Online-Only, [RefSeq, PubMed]; GRIK3 expression is significantly downregulated in human masticatory mucosa during wound healing, [RefSeq, PubMed]; Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. It is not certain if the subunit encoded by this gene is subject to RNA editing as the other 2 family members (GRIK1 and GRIK2). A Ser310Ala polymorphism has been associated with schizophrenia, and there are conflicting reports of its association with the pathogenesis of delirium tremens in alcoholics. [provided by RefSeq, Jul 2008]., [RefSeq]; Ionotropic glutamate receptor that functions as a cation-permeable ligand-gated ion channel, gated by L-glutamate and the glutamatergic agonist kainic acid. Binding of the excitatory neurotransmitter L-glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist (PubMed:7719709). In association with GRIK2, involved in presynaptic facilitation of glutamate release at hippocampal mossy fiber synapses (By similarity)., [UniProtKB, PubMed, UniProtKB]; Mechanically, GRIK3 influenced a range of signaling pathways and key signal transducers, including two epithelial-mesenchymal transition regulators, SPDEF and CDH1. Moreover, overexpression of GRIK3 increased the expression of mesenchymal markers and decreased the expression of epithelial markers, resulting in the translocation of beta-catenin into the nucleus and the increased beta-catenin transcriptional activity., [RefSeq, PubMed]", "predicted_glycosites": 10, "predicted_n_glycosites": 10, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 52, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "A9Z1Z8;B1AMS6;Q13004;Q16136", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0022849 glutamate-gated calcium ion channel activity;GO:0001640 adenylate cyclase inhibiting G protein-coupled glutamate receptor activity;GO:0004970 glutamate-gated receptor activity;GO:0015277 kainate selective glutamate receptor activity;GO:1904315 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0030424 axon;GO:0030425 dendrite;GO:0043195 terminal bouton", "go_biological_process": "GO:0042391 regulation of membrane potential;GO:0035249 synaptic transmission, glutamatergic;GO:0051967 negative regulation of synaptic transmission, glutamatergic;GO:0050804 modulation of chemical synaptic transmission;GO:0007216 G protein-coupled glutamate receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q13003-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4G148-1", "uniprot_id": [ { "id": "GXLT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4G148", "type": "external" } ], "mass": 50567.0, "length": 440, "protein_name": "Glucoside xylosyltransferase 1", "gene_name": "GXYLT1", "organism": "Human", "refseq_name": "glucoside xylosyltransferase 1 isoform 2", "refseq_ac": [ { "id": "NP_001093120", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093120", "type": "external" } ], "gene_names_uniprotkb": "GXYLT1; GLT8D3", "gene_names_refseq": "GLT8D3; GXYLT1", "protein_names_uniprotkb": "Glucoside xylosyltransferase 1; 2.4.2.42; Glycosyltransferase 8 domain-containing protein 3", "protein_names_refseq": "glucoside xylosyltransferase 1 isoform 2; glycosyltransferase 8 domain containing 3; glycosyltransferase 8 domain-containing protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:283464)", "pathway_count": 1, "publication_count": 61, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;16335952;19159218;19940119;23090970;23481700;23584533;24190977;25418920;25813380;25892735;26375851;26992070;27600516;27846572;27920218;28063628;28228285;28467828;28832583;28834231;29242379;29393594;29557506;29632046;29632711;29741879;29769354;30315122;31611695;31844290;31848261;32157095;32265295;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33592498;33691108;33936100;33968037;33981976;34087483;34185709;34357683;34725712;35051231;35154160;35459861;35561310;35580925;36010968;36215666;37074911;37347142", "class_list": "glycogene;glycosyltransferase", "function": "A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Exome Sequencing Implicates DGKZ , ESRRA , and GXYLT1 for Modulating Granuloma Formation in Crohn Disease., [RefSeq, PubMed]; GXYLT1 is a xylosyltransferase (EC 2.4.2.-) that adds the first xylose to O-glucose-modified residues in the epidermal growth factor (EGF; MIM 131530) repeats of proteins such as NOTCH1 (MIM 190198) (Sethi et al., 2010 [PubMed 19940119]).[supplied by OMIM, Mar 2010]., [RefSeq]; Glycosyltransferase which elongates the O-linked glucose attached to EGF-like repeats in the extracellular domain of Notch proteins by catalyzing the addition of xylose., [UniProtKB, PubMed]; We have identified two enzymes of the human glycosyltransferase 8 family, now named GXYLT1 and GXYLT2 (glucoside xylosyltransferase), as UDP-d-xylose:beta-d-glucoside alpha1,3-d-xylosyltransferases adding the first xylose., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 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": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 636, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 13, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B3KWJ2;Q8IXV1;Q96BH4", "ec_number_list": [ { "id": "2.4.2.42", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.42", "type": "external" } ], "go_molecular_function": "GO:0035252 UDP-xylosyltransferase activity;GO:0140563 UDP-D-xylose:beta-D-glucoside alpha-1,3-D-xylosyltransferase activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0016266 protein O-linked glycosylation via N-acetyl-galactosamine;GO:0180059 protein O-linked glycosylation via glucose", "synthesized_glycan_count": 7, "hit_score": 8.1, "record_id": "Q4G148-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4G1C9-1", "uniprot_id": [ { "id": "GRPL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4G1C9", "type": "external" } ], "mass": 40179.0, "length": 344, "protein_name": "GLIPR1-like protein 2", "gene_name": "GLIPR1L2", "organism": "Human", "refseq_name": "GLIPR1-like protein 2 isoform 1", "refseq_ac": [ { "id": "NP_001257325", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257325", "type": "external" } ], "gene_names_uniprotkb": "GLIPR1L2", "gene_names_refseq": "GLIPR1L2", "protein_names_uniprotkb": "GLIPR1-like protein 2", "protein_names_refseq": "GLI pathogenesis related 1 like 2; GLIPR1-like protein 2 isoform 1; GLIPR1-like protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:144321)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "16714093;24715725;30429286;31844290;32350084", "class_list": "", "function": "This gene encodes a member of the cysteine-rich secretory protein, antigen 5, and pathogenesis-related 1 superfamily. Members of this family have roles in a variety of processes, including cancer and immune defense. This gene is located in a cluster with two related genes on chromosome 12. Alternative splicing results in multiple transcript variants. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q6MZS1;Q8N6N0;Q8NA43", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q4G1C9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q58FF7-1", "uniprot_id": [ { "id": "H90B3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q58FF7", "type": "external" } ], "mass": 68325.0, "length": 597, "protein_name": "Putative heat shock protein HSP 90-beta-3", "gene_name": "HSP90AB3P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "HSP90AB3P; HSP90BC", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative heat shock protein HSP 90-beta-3; Heat shock protein 90-beta c; Heat shock protein 90Bc", "protein_names_refseq": "", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162); pulmonary fibrosis (Disease Ontology:DOID:3770); pancreatitis (Disease Ontology:DOID:4989); muscular atrophy (Disease Ontology:DOID:767)", "pathway": "", "pathway_count": 0, "publication_count": 32, "publication_id_list": "10.1101/2023.09.13.557529;16269234;22424782;23271734;23783831;24190977;25469497;25810538;26154972;26375851;27600516;27893789;28514659;28832583;28834231;28855257;28904123;29242379;29351928;29557506;29741879;29789417;30484775;32387766;32938616;33091337;33141586;33392160;33936100;35051231;36581221;37217939", "class_list": "", "function": "Putative molecular chaperone that may promote the maturation, structural maintenance and proper regulation of specific 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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 4, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0051082 unfolded protein binding;GO:0016887 ATP hydrolysis activity;GO:0042826 histone deacetylase binding;GO:0070182 DNA polymerase binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0034774 secretory granule lumen;GO:0048471 perinuclear region of cytoplasm;GO:0070062 extracellular exosome", "go_biological_process": "GO:0034605 cellular response to heat;GO:0050821 protein stabilization;GO:0006457 protein folding;GO:0051131 chaperone-mediated protein complex assembly;GO:0007004 telomere maintenance via telomerase", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q58FF7-1", "record_type": "protein", "filter_code": "0000000.0000110.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q75WM6-1", "uniprot_id": [ { "id": "H1FNT_HUMAN", "url": "https://www.uniprot.org/uniprot/Q75WM6", "type": "external" } ], "mass": 28116.0, "length": 255, "protein_name": "Testis-specific H1 histone", "gene_name": "H1-7", "organism": "Human", "refseq_name": "testis-specific H1 histone", "refseq_ac": [ { "id": "NP_861453", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_861453", "type": "external" } ], "gene_names_uniprotkb": "H1-7; H1FNT; HANP1", "gene_names_refseq": "H1-7; H1.7; H1FNT; H1T2", "protein_names_uniprotkb": "Testis-specific H1 histone; Haploid germ cell-specific nuclear protein 1; Histone H1.7; Histone H1t2", "protein_names_refseq": "H1 histone family member N, testis specific; HANP1; haploid germ cell-specific nuclear protein 1; histone H1.7; histone H1t2; testis secretory sperm-binding protein Li 223n; testis-specific H1 histone", "tax_id": 9606, "disease": "", "pathway": " (hsa:341567)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "15710904;16533358;31154438", "class_list": "", "function": "Essential for normal spermatogenesis and male fertility (PubMed:16533358). Required for proper cell restructuring and DNA condensation during the elongation phase of spermiogenesis. Involved in the histone-protamine transition of sperm chromatin and the subsequent production of functional sperm. Binds both double-stranded and single-stranded DNA, ATP and protamine-1., [UniProtKB, PubMed, UniProtKB]; H-HANP1 is expressed in the testes and its genomic construct also intronless as mouse Hanp1. We found that the h-HANP1 coding region have 5 single-nucleotide polymorphisms in Japanese men., [RefSeq, PubMed]; H1T2 is a protein required for proper cell restructuring and DNA condensation during the elongation phase of spermiogenesis., [RefSeq, PubMed]; Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-independent histone that is a member of the histone H1 family. The related mouse gene encodes a testis specific protein that is required for spermatogenesis and male fertility. [provided by RefSeq, Oct 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": 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": "Q147U8;Q5GKZ5;Q7Z694", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0003690 double-stranded DNA binding;GO:0031492 nucleosomal DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0030261 chromosome condensation;GO:0045910 negative regulation of DNA recombination;GO:0007290 spermatid nucleus elongation;GO:0035092 sperm DNA condensation", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q75WM6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z2G1-2", "uniprot_id": [ { "id": "H2BWT_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z2G1", "type": "external" } ], "mass": 17050.0, "length": 153, "protein_name": "Histone H2B type W-T", "gene_name": "H2BW1", "organism": "Human", "refseq_name": "histone H2B type W-T", "refseq_ac": [ { "id": "NP_001002916", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002916", "type": "external" } ], "gene_names_uniprotkb": "H2BW1; H2BFWT; TH2B-175", "gene_names_refseq": "H2BFWT; H2BW1; TH2B-175", "protein_names_uniprotkb": "Histone H2B type W-T; H2B histone family member W testis-specific; H2B.W histone 1", "protein_names_refseq": "H2B histone family member W, testis specific; histone H2B type W-T", "tax_id": 9606, "disease": "", "pathway": " (hsa:158983)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "15475252;16449661;19583817;29453813;33440036;36217675;38892236", "class_list": "", "function": "Atypical histone H2B that can form nucleosomes structurally and dynamically indistinguishable from those containing conventional H2B. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling (PubMed:15475252, PubMed:16449661). However, unlike conventional H2B, does not recruit chromosome condensation factors and does not participate in the assembly of mitotic chromosomes (PubMed:16449661). May be important for telomere function and play a role in spermatogenesis (PubMed:16449661, PubMed:19583817)., [UniProtKB, PubMed, PubMed, PubMed]; H2BFWT Variations in Sperm DNA and Its Correlation to Pregnancy. Publication Status: Online-Only, [RefSeq, PubMed]; Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a replication-independent histone that is a member of the H2B histone family that is specifically expressed in sperm nuclei. A polymorphism in the 5' UTR of this gene is associated with male infertility.[provided by RefSeq, Oct 2015]., [RefSeq]; Impact of tobacco smoking in association with H2BFWT, PRM1 and PRM2 genes variants on male infertility., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The association of -9C>T and 368A>G polymorphisms in H2BFWT gene with male infertility risk was assessed through a case-control and meta-analysis, [RefSeq, PubMed]; Tobacco smoking and its impact on the expression level of sperm nuclear protein genes: H2BFWT, TNP1, TNP2, PRM1 and PRM2., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B1AK72;Q147W3", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0046982 protein heterodimerization activity;GO:0030527 structural constituent of chromatin", "go_cellular_component": "GO:0005634 nucleus;GO:0031965 nuclear membrane;GO:0000781 chromosome, telomeric region;GO:0000786 nucleosome", "go_biological_process": "GO:0006325 chromatin organization", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q7Z2G1-2", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z2Y8-1", "uniprot_id": [ { "id": "GVIN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z2Y8", "type": "external" } ], "mass": 279048.0, "length": 2422, "protein_name": "Interferon-induced very large GTPase 1", "gene_name": "GVINP1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "GVINP1; GVIN1; VLIG1", "gene_names_refseq": "", "protein_names_uniprotkb": "Interferon-induced very large GTPase 1; Interferon-induced very large GTPase pseudogene 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 17, "publication_id_list": "23481700;26375851;28832583;29242379;29557506;30379171;30484775;30524438;32350084;32387766;32938616;34932366;35051231;35251023;35494241;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": 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": 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": 3, "binding_glycan_count": 0, "secondary_ac_list": "A6NFL2;Q9H8N5", "ec_number_list": [], "go_molecular_function": "GO:0005525 GTP binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q7Z2Y8-1", "record_type": "protein", "filter_code": "0000000.0000100.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86UP8-1", "uniprot_id": [ { "id": "GTD2A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86UP8", "type": "external" } ], "mass": 107168.0, "length": 949, "protein_name": "General transcription factor II-I repeat domain-containing protein 2A", "gene_name": "GTF2IRD2", "organism": "Human", "refseq_name": "general transcription factor II-I repeat domain-containing protein 2A isoform 2", "refseq_ac": [ { "id": "NP_001268376", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268376", "type": "external" } ], "gene_names_uniprotkb": "GTF2IRD2; GTF2IRD2A", "gene_names_refseq": "FP630; GTF2IRD2 alpha; GTF2IRD2A; GTF2IRD2", "protein_names_uniprotkb": "General transcription factor II-I repeat domain-containing protein 2A; GTF2I repeat domain-containing protein 2A; Transcription factor GTF2IRD2-alpha", "protein_names_refseq": "GTF2I repeat domain-containing protein 2, alpha; GTF2I repeat domain-containing protein 2A; general transcription factor II i repeat domain 2 alpha; general transcription factor II-I repeat domain-containing protein 2A isoform 2; general transcription factor II-I repeat domain-containing protein 2A; transcription factor GTF2IRD2-alpha", "tax_id": 9606, "disease": "", "pathway": " (hsa:84163)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "11237011;15100712;15243160;15388857;16532385;23118870;25505266;27862975;28904123;30375319;30429286;31092671;32157095;32938616;32983136;33691108;33968037;34509645;34561969;35051231;35318648;35561310;35580925;36010968;37217939", "class_list": "", "function": "Atypical Williams Syndrome patients with GTF2IRD2 deletion had more impaired visuospatial abilities and more significant behavioral problems, mainly related to the construct of social cognition, [RefSeq, PubMed]; GTF2IRD2 genes in mice and humans allows refinement of the centromeric breakpoint position of the primate-specific inversion within the Williams-Beuren syndrome critical region., [RefSeq, PubMed]; There is high indentity between CTF2IRD2 and CTF2I, which suggests that heterodimers as well as homodimers are possible, and indicates overlapping functions between their respective short isoforms., [RefSeq, PubMed]; This gene is one of several closely related genes on chromosome 7 encoding proteins containing helix-loop-helix motifs. These proteins may function as regulators of transcription. The encoded protein is unique in that its C-terminus is derived from CHARLIE8 transposable element sequence. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, and loss of this locus may contribute to the cognitive phenotypes observed in this disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]., [RefSeq]; We provide the first evidence for a role for GTF2IRD2 in higher-level (executive functioning) abilities and highlight the importance of integrating detailed molecular characterisation of patients with comprehensive neuropsychological profiling, [RefSeq, PubMed]; Williams-Beuren syndrome patients are hemizygous for the GTF2IRD2 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": 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": "A0A0A0MSY2;A8K5W6;B3KUZ2;Q69G40;Q6EKI8;Q6EKI9;Q6NVW2;Q6P7N8;Q86WX4;Q8ND85;Q8NDE5", "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:0005654 nucleoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q86UP8-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q93077-1", "uniprot_id": [ { "id": "H2A1C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q93077", "type": "external" } ], "mass": 14105.0, "length": 130, "protein_name": "Histone H2A type 1-C", "gene_name": "H2AC6", "organism": "Human", "refseq_name": "histone H2A type 1-C", "refseq_ac": [ { "id": "NP_003503", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003503", "type": "external" } ], "gene_names_uniprotkb": "H2AC6; H2AFL; HIST1H2AC", "gene_names_refseq": "H2A/l; H2AC6; H2AFL; HIST1H2AC; dJ221C16.4", "protein_names_uniprotkb": "Histone H2A type 1-C; H2A-clustered histone 6; Histone H2A/l", "protein_names_refseq": "H2A histone family, member L; histone 1, H2ac; histone H2A type 1-C; histone H2A/l; histone H2AC; histone cluster 1 H2A family member c; histone cluster 1, H2ac", "tax_id": 9606, "disease": "", "pathway": " (hsa:8334); (R-HSA-110328); (R-HSA-110329); (R-HSA-110330); (R-HSA-110331); (R-HSA-1221632); (R-HSA-171306); (R-HSA-1912408); (R-HSA-201722); (R-HSA-212300); (R-HSA-2299718); (R-HSA-2559580); (R-HSA-2559582); (R-HSA-2559586); (R-HSA-3214815); (R-HSA-3214847); (R-HSA-3214858); (R-HSA-427359); (R-HSA-427389); (R-HSA-427413); (R-HSA-5250924); (R-HSA-5334118); (R-HSA-5578749); (R-HSA-5617472); (R-HSA-5625886); (R-HSA-5689603); (R-HSA-5689880); (R-HSA-5689901); (R-HSA-606279); (R-HSA-68616); (R-HSA-73728); (R-HSA-73772); (R-HSA-8936459); (R-HSA-8939236); (R-HSA-9018519); (R-HSA-912446); (R-HSA-9609690); (R-HSA-9610379); (R-HSA-9616222); (R-HSA-9670095); (R-HSA-9710421); (R-HSA-9764725); (R-HSA-977225); (R-HSA-9821002); (R-HSA-9841922); (R-HSA-9843940); (R-HSA-9843970); (R-HSA-9845323); (R-HSA-9909649); (R-HSA-9918481); (R-HSA-9937850); (R-HSA-9940465); (R-HSA-9940951); (R-HSA-9943411); (R-HSA-9943962); (R-HSA-9970672)", "pathway_count": 56, "publication_count": 1094, "publication_id_list": 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"class_list": "", "function": "Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling., [UniProtKB]; Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B2R4F7;O00775;O00776;O00777;O00778;Q540R1", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0046982 protein heterodimerization activity;GO:0030527 structural constituent of chromatin", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0070062 extracellular exosome;GO:0000786 nucleosome", "go_biological_process": "GO:0008285 negative regulation of cell population proliferation;GO:0006325 chromatin organization;GO:0031507 heterochromatin formation", "synthesized_glycan_count": 0, "hit_score": 109.7, "record_id": "Q93077-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q93079-1", "uniprot_id": [ { "id": "H2B1H_HUMAN", "url": "https://www.uniprot.org/uniprot/Q93079", "type": "external" } ], "mass": 13892.0, "length": 126, "protein_name": "Histone H2B type 1-H", "gene_name": "H2BC9", "organism": "Human", "refseq_name": "histone H2B type 1-H", "refseq_ac": [ { "id": "NP_003515", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003515", "type": "external" } ], "gene_names_uniprotkb": "H2BC9; H2BFJ; HIST1H2BH", "gene_names_refseq": "H2B/j; H2BC9; H2BFJ; HIST1H2BH", "protein_names_uniprotkb": "Histone H2B type 1-H; H2B-clustered histone 9; H2B/j; Histone H2B.j", "protein_names_refseq": "H2B histone family, member J; histone 1, H2bh; histone H2B type 1-H; histone H2B.j; histone cluster 1 H2B family member h; histone cluster 1, H2bh", "tax_id": 9606, "disease": "", "pathway": " (hsa:8345); (R-HSA-110328); (R-HSA-110329); (R-HSA-110330); (R-HSA-110331); (R-HSA-1221632); (R-HSA-171306); (R-HSA-1912408); (R-HSA-201722); (R-HSA-212300); (R-HSA-2299718); (R-HSA-2559580); (R-HSA-2559582); (R-HSA-2559586); (R-HSA-3214815); (R-HSA-3214847); (R-HSA-427359); (R-HSA-427389); (R-HSA-427413); (R-HSA-5250924); (R-HSA-5334118); (R-HSA-5578749); (R-HSA-5617472); (R-HSA-5625886); (R-HSA-5689880); (R-HSA-5693565); (R-HSA-5693571); (R-HSA-5693607); (R-HSA-606279); (R-HSA-68616); (R-HSA-69473); (R-HSA-73728); (R-HSA-73772); (R-HSA-8866654); (R-HSA-8936459); (R-HSA-8939236); (R-HSA-9018519); (R-HSA-912446); (R-HSA-9609690); (R-HSA-9610379); (R-HSA-9616222); (R-HSA-9670095); (R-HSA-9710421); (R-HSA-9764725); (R-HSA-977225); (R-HSA-9821002); (R-HSA-9821993); (R-HSA-9841922); (R-HSA-9843940); (R-HSA-9843970); (R-HSA-9845323); (R-HSA-9909649); (R-HSA-9918481); (R-HSA-9937850); (R-HSA-9940465); (R-HSA-9940951); (R-HSA-9943411); (R-HSA-9943962); (R-HSA-9970672)", "pathway_count": 59, "publication_count": 1244, "publication_id_list": 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"class_list": "", "function": "Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling., [UniProtKB]; Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]., [RefSeq]; Identification of HIST1H2BH as the hub gene associated with multiple myeloma using integrated 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B2R541;Q4VB74", "ec_number_list": [], "go_molecular_function": "GO:0097677 STAT family protein binding;GO:0003677 DNA binding;GO:0019899 enzyme binding;GO:0046982 protein heterodimerization activity;GO:0044389 ubiquitin-like protein ligase binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0070062 extracellular exosome;GO:0032991 protein-containing complex", "go_biological_process": "GO:0019731 antibacterial humoral response;GO:0061844 antimicrobial humoral immune response mediated by antimicrobial peptide;GO:0006325 chromatin organization;GO:0006334 nucleosome assembly;GO:0002227 innate immune response in mucosa", "synthesized_glycan_count": 0, "hit_score": 124.7, "record_id": "Q93079-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96KK5-1", "uniprot_id": [ { "id": "H2A1H_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96KK5", "type": "external" } ], "mass": 13906.0, "length": 128, "protein_name": "Histone H2A type 1-H", "gene_name": "H2AC12", "organism": "Human", "refseq_name": "histone H2A type 1-H", "refseq_ac": [ { "id": "NP_542163", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_542163", "type": "external" } ], "gene_names_uniprotkb": "H2AC12; HIST1H2AH; HIST1H2AI", "gene_names_refseq": "H2A/S; H2AC12; H2AFALii; H2AH; HIST1H2AH; dJ86C11.1", "protein_names_uniprotkb": "Histone H2A type 1-H; H2A-clustered histone 12; Histone H2A/s", "protein_names_refseq": "H2A histone family member; histone H2A type 1-H; histone H2A/s; histone cluster 1 H2A family member h; histone cluster 1, H2ah", "tax_id": 9606, "disease": "", "pathway": " (hsa:85235); (R-HSA-3214815); (R-HSA-3214847); (R-HSA-3214858); (R-HSA-5689603); (R-HSA-5689880); (R-HSA-5689901); (R-HSA-9609690); (R-HSA-9610379); (R-HSA-9918481)", "pathway_count": 10, "publication_count": 179, "publication_id_list": "10383417;10444327;10444591;10449787;10748112;10786633;10821277;10904264;10922406;10926844;10982817;11341840;11448779;11509652;11566882;11739383;11742974;11747608;11747826;11751582;11756452;11909966;11923872;12032298;12353037;12408966;12724404;12857923;12917689;12917691;14519844;14661020;14762106;15010469;15053880;15078818;15084397;15313887;15386022;15485929;15823041;15916963;16140760;16214042;16359901;16387653;16702407;16901786;16906146;16964248;17074886;17139257;17211407;17215844;17290220;17443180;17707232;17873522;17898714;17980597;17981138;18001824;18001825;18079182;18172164;18203656;18381289;18404153;18467330;18497827;18535146;18623064;18632802;18636086;18758443;19015242;19135894;19187765;19188362;19188440;19202061;19203578;19203579;19234465;19363159;19398555;19424180;19640981;19682613;19815555;19838211;19874889;19910467;19965387;20018852;20096447;20228808;20368735;20436459;20501646;20805357;20951943;21239494;21316606;21362556;21571647;21587264;21596315;21659512;21690215;21774791;21849505;21911577;21925322;21962518;22029577;22085928;22128162;22174689;22216260;22231400;22389435;22645359;22713238;22980979;23159851;23246432;23395819;23486064;23824326;23825189;24056413;24140421;24260525;24352239;24493797;24681537;24896179;25197364;25305019;2530630;25470042;25578727;25802875;26092250;26101246;26552660;26572645;26824387;27083998;27105115;27108190;27452731;27501258;28415052;29902443;30154464;30360396;30599162;30761409;31542297;33043033;33177556;33592498;34171305;34545082;34961760;35215846;7513682;7578059;9150135;9427644;9528852;9558366;9642256;9651585;9790534;9790970;9880483", "class_list": "", "function": "Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling., [UniProtKB]; Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the histone microcluster on chromosome 6p21.33. [provided by RefSeq, Aug 2015]., [RefSeq]; Protein phosphatase 2C gamma binds to/dephosphorylates H2A to affect chromatin 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": 2, "reported_mutagensis": 1, "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:0003677 DNA binding;GO:0046982 protein heterodimerization activity;GO:0030527 structural constituent of chromatin", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0070062 extracellular exosome;GO:0000786 nucleosome", "go_biological_process": "GO:0031507 heterochromatin formation", "synthesized_glycan_count": 0, "hit_score": 18.0, "record_id": "Q96KK5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99879-1", "uniprot_id": [ { "id": "H2B1M_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99879", "type": "external" } ], "mass": 13989.0, "length": 126, "protein_name": "Histone H2B type 1-M", "gene_name": "H2BC14", "organism": "Human", "refseq_name": "histone H2B type 1-M", "refseq_ac": [ { "id": "NP_003512", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003512", "type": "external" } ], "gene_names_uniprotkb": "H2BC14; H2BFE; HIST1H2BM", "gene_names_refseq": "H2B/e; H2BC14; H2BFE; HIST1H2BM; dJ160A22.3", "protein_names_uniprotkb": "Histone H2B type 1-M; H2B/e; Histone H2B.e", "protein_names_refseq": "H2B histone family, member E; histone 1, H2bm; histone H2B type 1-M; histone H2B.e; histone cluster 1 H2B family member m; histone cluster 1, H2bm", "tax_id": 9606, "disease": "", "pathway": " (hsa:8342); (R-HSA-110328); (R-HSA-110329); (R-HSA-110330); (R-HSA-110331); (R-HSA-1221632); (R-HSA-171306); (R-HSA-1912408); (R-HSA-201722); (R-HSA-212300); (R-HSA-2299718); (R-HSA-2559580); (R-HSA-2559582); (R-HSA-2559586); (R-HSA-3214815); (R-HSA-3214847); (R-HSA-427359); (R-HSA-427389); (R-HSA-427413); (R-HSA-5250924); (R-HSA-5334118); (R-HSA-5578749); (R-HSA-5617472); (R-HSA-5625886); (R-HSA-5689880); (R-HSA-5693565); (R-HSA-5693571); (R-HSA-5693607); (R-HSA-606279); (R-HSA-68616); (R-HSA-69473); (R-HSA-73728); (R-HSA-73772); (R-HSA-8866654); (R-HSA-8936459); (R-HSA-8939236); (R-HSA-9018519); (R-HSA-912446); (R-HSA-9609690); (R-HSA-9610379); (R-HSA-9616222); (R-HSA-9670095); (R-HSA-9710421); (R-HSA-9764725); (R-HSA-977225); (R-HSA-9821002); (R-HSA-9821993); (R-HSA-9841922); (R-HSA-9843940); (R-HSA-9843970); (R-HSA-9845323); (R-HSA-9909649); (R-HSA-9918481); (R-HSA-9937850); (R-HSA-9940465); (R-HSA-9940951); (R-HSA-9943411); (R-HSA-9943962); (R-HSA-9970672)", "pathway_count": 59, "publication_count": 1258, "publication_id_list": 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"class_list": "", "function": "A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration., [RefSeq, PubMed]; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling., [UniProtKB]; Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. 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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. 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DNA-binding transcription factor activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A0A1B0GTS1-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8MVJ9-1", "uniprot_id": [ { "id": "HPF1L_HUMAN", "url": "https://www.uniprot.org/uniprot/A8MVJ9", "type": "external" } ], "mass": 39722.0, "length": 347, "protein_name": "Putative histone PARylation factor 1-like", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative histone PARylation factor 1-like", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 17, "publication_id_list": "25576301;28063628;28218747;28228285;28834231;29393594;29437277;29632046;29786170;30315122;30779550;31154438;31844290;32357974;32488085;32502341;37938771", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0072572 poly-ADP-D-ribose binding;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006302 double-strand break repair;GO:0140861 DNA repair-dependent chromatin remodeling", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "A8MVJ9-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14792-1", "uniprot_id": [ { "id": "HS3S1_HUMAN", "url": "https://www.uniprot.org/uniprot/O14792", "type": "external" } ], "mass": 35773.0, "length": 307, "protein_name": "Heparan sulfate glucosamine 3-O-sulfotransferase 1", "gene_name": "HS3ST1", "organism": "Human", "refseq_name": "heparan sulfate glucosamine 3-O-sulfotransferase 1 precursor", "refseq_ac": [ { "id": "NP_005105", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005105", "type": "external" } ], "gene_names_uniprotkb": "HS3ST1; 3OST1; 3OST", "gene_names_refseq": "3OST1; 3OST; HS3ST1", "protein_names_uniprotkb": "Heparan sulfate glucosamine 3-O-sulfotransferase 1; 2.8.2.23; 3-OST-1; Heparan sulfate 3-O-sulfotransferase 1; Heparan sulfate D-glucosaminyl 3-O-sulfotransferase 1; h3-OST-1", "protein_names_refseq": "3-OST-1; h3-OST-1; heparan sulfate (glucosamine) 3-O-sulfotransferase 1; heparan sulfate 3-O-sulfotransferase 1; heparan sulfate D-glucosaminyl 3-O-sulfotransferase 1; heparan sulfate glucosamine 3-O-sulfotransferase 1 precursor; heparin-glucosamine 3-O-sulfotransferase", "tax_id": 9606, "disease": "", "pathway": " (hsa:9957); (R-HSA-2022928)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "10318803;10639137;10644753;10677367;10716625;11087757;11169766;11237011;11274177;11279150;11390981;12138164;12492399;15082721;15096036;15607426;16343444;20554947;21700882;24247246;28126521;28132690;28148688;29242379;29632711;30471091;32983136;33159882;33936100;33968037;35154160;35676258;7601448;8900198;9346953;9463333;9535912;9915799;9988767;9988768", "class_list": "glycogene", "function": "Compared with Hs3st1+/+ mice, Hs3st1-/- mice were more susceptible to LPS-induced death due to an increased sensitivity to TNF, [RefSeq, PubMed]; Golgi-targeted HS3st1 localizes in the Golgi and results in the formation of a single type of AT-binding site and high anti-factor Xa activity, [RefSeq, PubMed]; Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It possesses both heparan sulfate glucosaminyl 3-O-sulfotransferase activity, anticoagulant heparan sulfate conversion activity, and is a rate limiting enzyme for synthesis of anticoagulant heparan. This enzyme is an intraluminal Golgi resident protein. [provided by RefSeq, Jul 2008]., [RefSeq]; In this paper a conformational change is described that occurs in heparan sulfate 3-O-sulfotransferase-1 upon binding to heparan sulfate., [RefSeq, PubMed]; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to position 3 of glucosamine residues in heparan (PubMed:8900198, PubMed:9346953, PubMed:9988768). Catalyzes the rate limiting step in the biosynthesis of heparan sulfate (HSact) (PubMed:8900198, PubMed:9988768). This modification is a crucial step in the biosynthesis of anticoagulant heparan sulfate as it completes the structure of the antithrombin pentasaccharide binding site (PubMed:8900198, PubMed:9988768)., [UniProtKB, PubMed, PubMed, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 464, "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": "B3KUA6;Q6PEY8", "ec_number_list": [ { "id": "2.8.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.23", "type": "external" }, { "id": "2.8.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.-", "type": "external" }, { "id": "2.8.2.29", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.29", "type": "external" }, { "id": "2.8.2.30", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.30", "type": "external" } ], "go_molecular_function": "GO:0008146 sulfotransferase activity;GO:0008467 [heparan sulfate]-glucosamine 3-sulfotransferase activity", "go_cellular_component": "GO:0005796 Golgi lumen", "go_biological_process": "GO:0006024 glycosaminoglycan biosynthetic process;GO:0015012 heparan sulfate proteoglycan biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "O14792-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N7B1-1", "uniprot_id": [ { "id": "HORM2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N7B1", "type": "external" } ], "mass": 35284.0, "length": 307, "protein_name": "HORMA domain-containing protein 2", "gene_name": "HORMAD2", "organism": "Human", "refseq_name": "HORMA domain-containing protein 2 isoform a", "refseq_ac": [ { "id": "NP_001316386", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316386", "type": "external" } ], "gene_names_uniprotkb": "HORMAD2", "gene_names_refseq": "CT46.2; HORMAD2", "protein_names_uniprotkb": "HORMA domain-containing protein 2", "protein_names_refseq": "HORMA domain-containing protein 2 isoform a; HORMA domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:150280)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;15999985;18477386;22893617;24715725;24797335;24803422;25880248;27941131;30039914;31857673;38400599", "class_list": "", "function": "A homozygous stop codon in HORMAD2 in a patient with recurrent digynic triploid miscarriage., [RefSeq, PubMed]; Essential for synapsis surveillance during meiotic prophase via the recruitment of ATR activity. Plays a key role in the male mid-pachytene checkpoint and the female meiotic prophase checkpoint: required for efficient build-up of ATR activity on unsynapsed chromosome regions, a process believed to form the basis of meiotic silencing of unsynapsed chromatin (MSUC) and meiotic prophase quality control in both sexes. Required for the DNA double-strand break-independent, BRCA1-dependent activation of ATR on the sex chromosomes that is essential for normal sex body formation (By similarity)., [UniProtKB]; HORMAD2 is predominantly expressed in human testis and weakly expressed in liver. HORMAD2 is ectopically expressed in nearly 10% of lung cancer samples from Chinese Han individuals., [RefSeq, PubMed]; Hormad1 and Hormad2 might not be the susceptible genes for the non-obstructive azoospermia in our study population. However, rs718772 of Hormad2 variant might be associated with testis development in NOA patients., [RefSeq, PubMed]; Hypermethylation of HORMAD2 could induce thyroid carcinoma progression, while hypomethylation of HORMAD2 retards cell growth and mobility and facilitates apoptosis through increasing its mRNA expression., [RefSeq, PubMed]; Identification of susceptibility locus shared by IgA nephropathy and inflammatory bowel disease in a Chinese Han population., [RefSeq, PubMed]; The variant rs2412971, intronic in HORMAD2 at chromosome 22q12.2, was robustly associated with tonsillectomy., [RefSeq, PubMed]; These findings indicate that polymorphisms at the CT gene HORMAD2 might be involved in the prognosis of advanced non-small-cell lung cancer in Han Chinese., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B5MEB2;Q8NHR2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005694 chromosome;GO:0000795 synaptonemal complex", "go_biological_process": "GO:0051598 meiotic recombination checkpoint signaling;GO:0007130 synaptonemal complex assembly;GO:0051321 meiotic cell cycle;GO:0051177 meiotic sister chromatid cohesion", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q8N7B1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P00492-1", "uniprot_id": [ { "id": "HPRT_HUMAN", "url": "https://www.uniprot.org/uniprot/P00492", "type": "external" } ], "mass": 24579.0, "length": 218, "protein_name": "Hypoxanthine-guanine phosphoribosyltransferase", "gene_name": "HPRT1", "organism": "Human", "refseq_name": "hypoxanthine-guanine phosphoribosyltransferase", "refseq_ac": [ { "id": "NP_000185", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000185", "type": "external" } ], "gene_names_uniprotkb": "HPRT1; HPRT", "gene_names_refseq": "HGPRT; HPRT1; HPRT", "protein_names_uniprotkb": "Hypoxanthine-guanine phosphoribosyltransferase; 2.4.2.8; HGPRTase; HGPRT", "protein_names_refseq": "HGPRTase; hypoxanthine guanine phosphoribosyl transferase; hypoxanthine-guanine phosphoribosyltransferase 1; hypoxanthine-guanine phosphoribosyltransferase; testicular tissue protein Li 89", "tax_id": 9606, "disease": "HRPT-related hyperuricemia (Disease Ontology:DOID:0112127); Lesch-Nyhan syndrome (Disease Ontology:DOID:1919); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:3251); (R-HSA-74217); (R-HSA-9734281); (R-HSA-9748787)", "pathway_count": 4, "publication_count": 142, "publication_id_list": "10338013;10360366;10840050;11427893;12009299;12435799;12697733;1282899;1301916;1429593;1487231;1551676;15571223;15747503;15850391;15990111;16359702;16530731;16717136;17027311;17301077;17454734;17996297;18292551;18399692;1840476;1937471;19527031;197968;20068231;2018042;20216118;20305658;20544509;2071157;2104852;211390;21723252;21755941;218932;22157001;22444596;2246854;227870;23096567;23301498;2341149;2347587;2358296;23816837;24824603;24940672;24974183;25114211;2539852;25502872;25576301;25645385;2572141;26238318;26768311;26992070;2738157;27397612;2844225;2845866;28467828;28832583;2896620;2909537;2910902;29242379;2928313;29314611;29393594;29482072;29493099;29557506;29632711;2999129;3023844;3029074;30987408;31020640;3148064;3182793;31844290;3198771;32119511;32144205;32157095;32350084;3265398;32938616;33043033;33141586;33392160;3358423;33592498;33691108;3384338;33968037;34019948;34171305;34433824;35051231;35114018;35138101;35154160;35251023;35580925;36010968;36178927;37737247;37938771;38665916;457664;5767308;6281270;6300847;6572373;657528;6706936;6771276;6853490;6853716;6989049;7107641;7627191;7987318;8044844;8226881;8670112;8692979;9003484;9099726;9132023;942489;9452051;9804782;9843365;9857047", "class_list": "", "function": "Converts guanine to guanosine monophosphate, and hypoxanthine to inosine monophosphate. Transfers the 5-phosphoribosyl group from 5-phosphoribosylpyrophosphate onto the purine. Plays a central role in the generation of purine nucleotides through the purine salvage pathway., [UniProtKB]; Expression variation of OGG1 and HPRT gene and DNA damage in arsenic exposed industrial workers. Publication Status: Online-Only, [RefSeq, PubMed]; Hypoxanthine phosphoribosyl transferase 1 metabolizes temozolomide to activate AMPK for driving chemoresistance of glioblastomas. Publication Status: Online-Only, [RefSeq, PubMed]; Hypoxanthine-guanine phosphoribosyltransferase is activated via positive cooperativity between guanine and IMP., [RefSeq, PubMed]; The protein encoded by this gene is a transferase, which catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. This enzyme plays a central role in the generation of purine nucleotides through the purine salvage pathway. Mutations in this gene result in Lesch-Nyhan syndrome or gout.[provided by RefSeq, Jun 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NHF0;B2R8M9", "ec_number_list": [ { "id": "2.4.2.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.8", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0042802 identical protein binding;GO:0000166 nucleotide binding;GO:0004422 hypoxanthine phosphoribosyltransferase activity;GO:0052657 guanine phosphoribosyltransferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0051289 protein homotetramerization;GO:0046040 IMP metabolic process;GO:0043103 hypoxanthine salvage;GO:0044209 AMP salvage;GO:0032264 IMP salvage", "synthesized_glycan_count": 0, "hit_score": 14.5, "record_id": "P00492-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01762-1", "uniprot_id": [ { "id": "HV311_HUMAN", "url": "https://www.uniprot.org/uniprot/P01762", "type": "external" } ], "mass": 12909.0, "length": 117, "protein_name": "Immunoglobulin heavy variable 3-11", "gene_name": "IGHV3-11", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGHV3-11", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin heavy variable 3-11; Ig heavy chain V-III region TRO", "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, 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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. 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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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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": 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:0003823 antigen binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0019814 immunoglobulin complex", "go_biological_process": "GO:0006955 immune response;GO:0016064 immunoglobulin mediated immune response", "synthesized_glycan_count": 0, "hit_score": 53.5, "record_id": "P01782-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00001", "kg_view_protein": true }, { "uniprot_canonical_ac": "P04196-1", "uniprot_id": [ { "id": "HRG_HUMAN", "url": "https://www.uniprot.org/uniprot/P04196", "type": "external" } ], "mass": 59578.0, "length": 525, "protein_name": "Histidine-rich glycoprotein", "gene_name": "HRG", "organism": "Human", "refseq_name": "histidine-rich glycoprotein precursor", "refseq_ac": [ { "id": "NP_000403", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000403", "type": "external" } ], "gene_names_uniprotkb": "HRG", "gene_names_refseq": "HPRG; HRGP; HRG; THPH11", "protein_names_uniprotkb": "Histidine-rich glycoprotein; HPRG; Histidine-proline-rich glycoprotein", "protein_names_refseq": "histidine-proline-rich glycoprotein; histidine-rich glycoprotein precursor", "tax_id": 9606, "disease": "thrombosis (Disease Ontology:DOID:0060903); thrombophilia due to HRG deficiency (Disease Ontology:DOID:0111903); pancreatic adenocarcinoma (Disease Ontology:DOID:4074)", "pathway": " (hsa:3273); (R-HSA-114608); (R-HSA-75205); (R-HSA-9855719)", "pathway_count": 4, "publication_count": 93, "publication_id_list": "10.1021/acs.analchem.6b02887;10514432;11057869;11134179;12007600;12235005;134998;1435334;1459097;14630798;14744774;15138272;15220341;15297306;15313924;16335952;16436387;16489009;17229145;17666018;1829461;1846368;18797515;19159218;19285951;19535045;19712047;19786305;19903770;20561914;20573803;21215706;21304106;2156852;2166055;21683246;23090970;2318848;23193360;23483454;23640497;24279413;2440681;24530628;24900876;2496749;2503541;2521625;2544876;2578463;2579948;26375851;26992070;28035807;2935528;29391424;29519898;29557506;2962641;29671580;29741879;3011081;3023326;30459171;30524438;3090045;3099750;31844290;33912179;34357683;36284347;37074911;3756141;38068988;38272220;38432918;38659607;38665916;3877053;39001985;4178758;4703226;6203908;6433976;6448849;6457647;6604055;678554;7199524;8188234;8467233;9414276;9886297", "class_list": "", "function": "Association of histidine-rich glycoprotein C633T single nucleotide polymorphism and recurrent miscarriage in Iranian women. Publication Status: Online-Only, [RefSeq, PubMed]; Plasma glycoprotein that binds a number of ligands such as heme, heparin, heparan sulfate, thrombospondin, plasminogen, and divalent metal ions. Binds heparin and heparin/glycosaminoglycans in a zinc-dependent manner. Binds heparan sulfate on the surface of liver, lung, kidney and heart endothelial cells. Binds to N-sulfated polysaccharide chains on the surface of liver endothelial cells. Inhibits rosette formation. Acts as an adapter protein and is implicated in regulating many processes such as immune complex and pathogen clearance, cell chemotaxis, cell adhesion, angiogenesis, coagulation and fibrinolysis. Mediates clearance of necrotic cells through enhancing the phagocytosis of necrotic cells in a heparan sulfate-dependent pathway. This process can be regulated by the presence of certain HRG ligands such as heparin and zinc ions. Binds to IgG subclasses of immunoglobins containing kappa and lambda light chains with different affinities regulating their clearance and inhibiting the formation of insoluble immune complexes. Tethers plasminogen to the cell surface. Binds T-cells and alters the cell morphology. Modulates angiogenesis by blocking the CD6-mediated antiangiongenic effect of thrombospondins, THBS1 and THBS2. Acts as a regulator of the vascular endothelial growth factor (VEGF) signaling pathway; inhibits endothelial cell motility by reducing VEGF-induced complex formation between PXN/paxillin and ILK/integrin-linked protein kinase and by promoting inhibition of VEGF-induced tyrosine phosphorylation of focal adhesion kinases and alpha-actinins in endothelial cells. Also plays a role in the regulation of tumor angiogenesis and tumor immune surveillance. Normalizes tumor vessels and promotes antitumor immunity by polarizing tumor-associated macrophages, leading to decreased tumor growth and metastasis., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The Association between Histidine-Rich Glycoprotein rs10770 Genotype and Recurrent Miscarriage in Iranian Women. Publication Status: Online-Only, [RefSeq, PubMed]; The histidine-rich and heparin-binding domain of HRGP mediates the antibacterial activity of the protein, [RefSeq, PubMed]; The protein encoded by this gene has a peptide that displays antimicrobial activity against C. albicans, E. coli, S. aureus, P. aeruginosa, and E. faecalis. Publication Status: Online-Only, [RefSeq, PubMed]; This histidine-rich glycoprotein contains two cystatin-like domains and is located in plasma and platelets. The physiological function has not been determined but it is known that the protein binds heme, dyes and divalent metal ions. The encoded protein also has a peptide that displays antimicrobial activity against C. albicans, E. coli, S. aureus, P. aeruginosa, and E. faecalis. It can inhibit rosette formation and interacts with heparin, thrombospondin and plasminogen. Two of the protein's effects, the inhibition of fibrinolysis and the reduction of inhibition of coagulation, indicate a potential prothrombotic effect. Mutations in this gene lead to thrombophilia due to abnormal histidine-rich glycoprotein levels. [provided by RefSeq, Nov 2014]., [RefSeq]; Zn[2+] Differentially Influences the Neutralisation of Heparins by HRG, Fibrinogen, and Fibronectin. Publication Status: Online-Only, [RefSeq, PubMed]; [The plasma protein HRG is an important factor for preventing sepsis and maintaining homeostatic response]. 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": 3, "mined_n_glycosites": 1, "mined_o_glycosites": 2, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 105, "disease_count": 3, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "B9EK35;D3DNU7", "ec_number_list": [], "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity;GO:0005102 signaling receptor binding;GO:0008201 heparin binding;GO:0008270 zinc ion binding;GO:0043395 heparan sulfate proteoglycan binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0031012 extracellular matrix;GO:0031093 platelet alpha granule lumen", "go_biological_process": "GO:2000504 positive regulation of blood vessel remodeling;GO:0010543 regulation of platelet activation;GO:0001525 angiogenesis;GO:0006935 chemotaxis;GO:0007162 negative regulation of cell adhesion", "synthesized_glycan_count": 0, "hit_score": 20.9, "record_id": "P04196-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100110010000.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P05546-1", "uniprot_id": [ { "id": "HEP2_HUMAN", "url": "https://www.uniprot.org/uniprot/P05546", "type": "external" } ], "mass": 57071.0, "length": 499, "protein_name": "Heparin cofactor 2", "gene_name": "SERPIND1", "organism": "Human", "refseq_name": "heparin cofactor 2 precursor", "refseq_ac": [ { "id": "NP_000176", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000176", "type": "external" } ], "gene_names_uniprotkb": "SERPIND1; HCF2", "gene_names_refseq": "D22S673; HC2; HCF2; HCII; HLS2; LS2; SERPIND1; THPH10", "protein_names_uniprotkb": "Heparin cofactor 2; HC-II; HLS2; Heparin cofactor II; Protease inhibitor leuserpin-2; Serpin D1", "protein_names_refseq": "heparin cofactor 2 precursor; heparin cofactor 2; leuserpin 2; protease inhibitor leuserpin-2; serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1; serpin D1; serpin peptidase inhibitor, clade D (heparin cofactor), member 1", "tax_id": 9606, "disease": "disease by infectious agent (Disease Ontology:DOID:0050117); heparin cofactor II deficiency (Disease Ontology:DOID:0111901)", "pathway": " (hsa:3053); (R-HSA-381426); (R-HSA-8957275); (R-HSA-9769733); (R-HSA-9769739); (R-HSA-9769743)", "pathway_count": 6, "publication_count": 185, "publication_id_list": "10.1021/acs.analchem.6b02887;10026136;10026158;10077652;10218588;10391209;10512690;10614670;10681634;10810289;10898936;10912521;10951195;10990447;11035113;11158056;11204559;11238108;11250653;11264294;11316783;11342438;11522292;11606061;11739083;11751371;11788658;11833835;12052963;12169660;12241545;12379487;12466191;12706831;12810533;12904166;12907439;1370451;1383255;14982929;15126567;15308688;15337701;15469690;15485880;15525596;15642270;16161994;1618828;16335952;16619025;1671335;17047378;17249697;17312271;17506785;17598008;17635713;17985932;1902833;19139490;19159218;19297154;1930190;1939083;19824718;1985958;20004170;2019570;20427285;2104620;2104832;2110473;21107324;21932952;22144186;22618708;2271516;22786881;22961984;23021219;23683607;2384594;24279413;24554904;2476804;2479552;2502206;2505252;2538457;25713144;25855704;26091039;26473492;2647747;27363989;2742826;28035807;28063628;2841345;2866798;2894851;29223926;29391424;29393594;29419409;29557506;29632711;29671580;29741879;29786170;3003690;3017409;30429286;30459171;3082357;30918026;31154438;31262782;3129422;3134349;31439947;31492838;31844290;32125861;32157095;32265295;32488085;32827448;32983136;33968037;34357683;35051231;3524673;36244745;36284347;36951953;37074911;3733688;3744129;3755044;37726033;38253038;3863104;38665916;3907702;6323392;6334516;6438527;7356959;7499257;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7683646;7689487;7727775;7756647;8144529;8148489;8338946;8626656;8639781;8781553;8817670;8894645;8964575;9218519;9459334;9469622;9497324;9607108;9709957;9733769;9774404;9786878;9834200;9888880;9922210", "class_list": "", "function": "Identification and characterization of a novel isoform of heparin cofactor II in human liver., [RefSeq, PubMed]; Peptides at the N-terminal of HC-II have chemotactic activity for both monocytes and neutrophils., [UniProtKB, PubMed]; Plasma Heparin Cofactor II Activity Is Inversely Associated with Hepatic Fibrosis of Non-Alcoholic Fatty Liver Disease in Patients with Type 2 Diabetes Mellitus., [RefSeq, PubMed]; Shows negligible inhibition, in vitro, of thrombin and tPA and no inhibition of factor Xa, in vitro., [UniProtKB, PubMed]; This gene belongs to the serpin gene superfamily. Serpins play roles in many processes including inflammation, blood clotting, and cancer metastasis. Members of this family have highly conserved secondary structures with a reactive center loop that interacts with the protease active site to inhibit protease activity. This gene encodes a plasma serine protease that functions as a thrombin and chymotrypsin inhibitor. The protein is activated by heparin, dermatan sulfate, and glycosaminoglycans. Allelic variations in this gene are associated with heparin cofactor II deficiency. [provided by RefSeq, Jul 2015]., [RefSeq]; Thrombin inhibitor activated by the glycosaminoglycans, heparin or dermatan sulfate. In the presence of the latter, HC-II becomes the predominant thrombin inhibitor in place of antithrombin III (AT-III). Also inhibits chymotrypsin, but in a glycosaminoglycan-independent manner., [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": 3, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 11, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 11, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 11, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 1, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 66, "disease_count": 2, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "A0A7H0TJC6;B2RAI1;D3DX34;Q6IBZ5", "ec_number_list": [], "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity;GO:0008201 heparin binding;GO:0004866 endopeptidase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006935 chemotaxis;GO:0007596 blood coagulation", "synthesized_glycan_count": 0, "hit_score": 26.6, "record_id": "P05546-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DP02-1", "uniprot_id": [ { "id": "HVC33_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DP02", "type": "external" } ], "mass": 12989.0, "length": 117, "protein_name": "Immunoglobulin heavy variable 3-30-3", "gene_name": "IGHV3-30-3", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGHV3-30-3", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin heavy variable 3-30-3", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 7, "publication_id_list": "11340299;17576170;20176268;22158414;23541343;24600447;29557506", "class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin heavy 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": 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:0003823 antigen binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0019814 immunoglobulin complex", "go_biological_process": "GO:0016064 immunoglobulin mediated immune response", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "P0DP02-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00001", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DP08-1", "uniprot_id": [ { "id": "HVD82_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DP08", "type": "external" } ], "mass": 13016.0, "length": 117, "protein_name": "Immunoglobulin heavy variable 4-38-2", "gene_name": "IGHV4-38-2", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGHV4-38-2", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin heavy variable 4-38-2", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "11340299;17576170;20176268;22158414;23541343;24600447", "class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin heavy 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": 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:0003823 antigen binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0019814 immunoglobulin complex", "go_biological_process": "GO:0016064 immunoglobulin mediated immune response", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "P0DP08-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00001", "kg_view_protein": true }, { "uniprot_canonical_ac": "P31260-1", "uniprot_id": [ { "id": "HXA10_HUMAN", "url": "https://www.uniprot.org/uniprot/P31260", "type": "external" } ], "mass": 42414.0, "length": 410, "protein_name": "Homeobox protein Hox-A10", "gene_name": "HOXA10", "organism": "Human", "refseq_name": "homeobox protein Hox-A10", "refseq_ac": [ { "id": "NP_061824", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061824", "type": "external" } ], "gene_names_uniprotkb": "HOXA10; HOX1H", "gene_names_refseq": "HOX1.8; HOX1H; HOX1; HOXA10; PL", "protein_names_uniprotkb": "Homeobox protein Hox-A10; Homeobox protein Hox-1.8; Homeobox protein Hox-1H; PL", "protein_names_refseq": "homeo box A10; homeobox protein 1H; homeobox protein HOXA10; homeobox protein Hox-1.8; homeobox protein Hox-1H; homeobox protein Hox-A10", "tax_id": 9606, "disease": "", "pathway": " (hsa:3206)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "12145285;15213244;1676505;2573064;2574852;26992070;31406476;32387766;32870666;35051231;36010968;37217939;37752532;38369001;38932472;39445487;7906121", "class_list": "", "function": "An Inherited Allele Confers Prostate Cancer Progression and Drug Resistance via RFX6/HOXA10-Orchestrated TGFbeta Signaling., [RefSeq, PubMed]; In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor that may regulate gene expression, morphogenesis, and differentiation. More specifically, it may function in fertility, embryo viability, and regulation of hematopoietic lineage commitment. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the downstream homeobox A9 (HOXA9) gene. [provided by RefSeq, Mar 2011]., [RefSeq]; Long non-coding RNA Homeobox D gene cluster antisense growth-associated long noncoding RNA/microRNA-182-5p/Homeobox protein A10 alleviates postmenopausal osteoporosis via accelerating osteoblast differentiation of bone marrow mesenchymal stem cells. Publication Status: Online-Only, [RefSeq, PubMed]; M6A/HOXA10-AS/ITGA6 axis aggravates oxidative resistance and malignant progression of laryngeal squamous cell carcinoma through regulating Notch and Keap1/Nrf2 pathways., [RefSeq, PubMed]; Mechanism of HOXA10 in nasopharyngeal carcinoma cell proliferation through the PTPRG-AS1/USP1 axis., [RefSeq, PubMed]; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Binds to the DNA sequence 5'-AA[AT]TTTTATTAC-3'., [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": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "diagnostic", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O43370;O43605;Q15949;Q504T1", "ec_number_list": [], "go_molecular_function": "GO:0042826 histone deacetylase 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:0005737 cytoplasm;GO:0016604 nuclear body;GO:0005667 transcription regulator complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007283 spermatogenesis;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0043627 response to estrogen", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "P31260-1", "record_type": "protein", "filter_code": "1000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P31271-1", "uniprot_id": [ { "id": "HXA13_HUMAN", "url": "https://www.uniprot.org/uniprot/P31271", "type": "external" } ], "mass": 39727.0, "length": 388, "protein_name": "Homeobox protein Hox-A13", "gene_name": "HOXA13", "organism": "Human", "refseq_name": "homeobox protein Hox-A13", "refseq_ac": [ { "id": "NP_000513", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000513", "type": "external" } ], "gene_names_uniprotkb": "HOXA13; HOX1J", "gene_names_refseq": "HOX1J; HOX1; HOXA13", "protein_names_uniprotkb": "Homeobox protein Hox-A13; Homeobox protein Hox-1J", "protein_names_refseq": "homeo box 1J; homeo box A13; homeobox protein HOXA13; homeobox protein Hox-1J; homeobox protein Hox-A13; transcription factor HOXA13", "tax_id": 9606, "disease": "hand-foot-genital syndrome (Disease Ontology:DOID:0060739); Guttmacher syndrome (Disease Ontology:DOID:0111544); hypospadias (Disease Ontology:DOID:10892)", "pathway": " (hsa:3209)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "10839976;11968094;12073020;21829694;24715725;24934387;25576301;2574852;26590955;27600516;27846572;28834231;29508533;29789417;30626607;31844290;32161166;32387766;33912179;36411030;36702441;37392284;37563232;38129477;9020844", "class_list": "", "function": "Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1., [RefSeq, PubMed]; HOXA13 promotes the proliferation, migration, and invasion of nasopharyngeal carcinoma HNE1 cells by upregulating the expression of Snail and MMP-2. Publication Status: Online-Only, [RefSeq, PubMed]; Hand-foot-genital syndrome due to a duplication variant in the GC-rich region of HOXA13., [RefSeq, PubMed]; Hsa-microRNA-1249-3p/Homeobox A13 axis modulates the expression of beta-catenin gene in human epithelial cells. Publication Status: Online-Only, [RefSeq, PubMed]; In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Expansion of a polyalanine tract in the encoded protein can cause hand-foot-uterus syndrome, also known as hand-foot-genital syndrome. [provided by RefSeq, Jul 2008]., [RefSeq]; Long non-coding RNA HOTTIP exerts an oncogenic function by regulating HOXA13 in nasopharyngeal carcinoma., [RefSeq, PubMed]; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis., [UniProtKB]; Sequence-specific, AT-rich binding transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis., [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": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4D188;O43371", "ec_number_list": [], "go_molecular_function": "GO:0003677 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:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0048619 embryonic hindgut morphogenesis;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0001501 skeletal system development;GO:0030850 prostate gland development", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "P31271-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P48741-1", "uniprot_id": [ { "id": "HSP77_HUMAN", "url": "https://www.uniprot.org/uniprot/P48741", "type": "external" } ], "mass": 40244.0, "length": 367, "protein_name": "Putative heat shock 70 kDa protein 7", "gene_name": "HSPA7", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "HSPA7; HSP70B", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative heat shock 70 kDa protein 7; Heat shock 70 kDa protein B; Heat shock protein family A member 7", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-3371453)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "10954706;11747420;12853476;12917326;12974469;15364926;15802566;1586970;16278218;1754405;18235501;18235502;18550409;19229036;19914676;22465953;22541429;22735644;22940245;23349863;24715725;25548167;25892735;29242379;30524438;36581221;37217939;3927293;7585962;8721986;8946918;9305631;9873016;9920933", "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": "P19790", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0031072 heat shock protein binding;GO:0044183 protein folding chaperone", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0042026 protein refolding", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "P48741-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P81172-1", "uniprot_id": [ { "id": "HEPC_HUMAN", "url": "https://www.uniprot.org/uniprot/P81172", "type": "external" } ], "mass": 9408.0, "length": 84, "protein_name": "Hepcidin", "gene_name": "HAMP", "organism": "Human", "refseq_name": "hepcidin preproprotein", "refseq_ac": [ { "id": "NP_066998", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066998", "type": "external" } ], "gene_names_uniprotkb": "HAMP; HEPC; LEAP1; PRO1003", "gene_names_refseq": "HAMP; HEPC; HFE2B; LEAP1; PLTR", "protein_names_uniprotkb": "Hepcidin; LEAP-1; Liver-expressed antimicrobial peptide 1; PLTR; Putative liver tumor regressor", "protein_names_refseq": "hepcidin preproprotein; liver-expressed antimicrobial peptide 1; putative liver tumor regressor", "tax_id": 9606, "disease": "metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); alcohol-associated liver disease (Disease Ontology:DOID:0070658); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); hemochromatosis type 2B (Disease Ontology:DOID:0111032); iron deficiency anemia (Disease Ontology:DOID:11758); primary biliary cholangitis (Disease Ontology:DOID:12236); beta thalassemia (Disease Ontology:DOID:12241); pure red-cell aplasia (Disease Ontology:DOID:1340); extrahepatic cholestasis (Disease Ontology:DOID:13619); hemochromatosis (Disease Ontology:DOID:2352); anemia (Disease Ontology:DOID:2355); middle cerebral artery infarction (Disease Ontology:DOID:3525); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); hepatocellular carcinoma (Disease Ontology:DOID:684); end stage renal disease (Disease Ontology:DOID:783); myocarditis (Disease Ontology:DOID:820)", "pathway": " (hsa:57817)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "11034317;11113131;11836175;12010514;12138110;12915468;12975309;14630809;14633868;14670915;15099344;15124018;19553669;22306005;22682227;29237594;29557506;29786170;32814342;35251023;35580925;38935685;38953731;39047915;39278061;39894887", "class_list": "", "function": "A highly disulfide-bonded human antimicrobial protein, LEAP1, is reported., [RefSeq, PubMed]; Erythropoietin enhances iron bioavailability in HepG2 cells by downregulating hepcidin through mTOR, C/EBPalpha and HIF-1alpha., [RefSeq, PubMed]; Has strong antimicrobial activity against E.coli ML35P N.cinerea and weaker against S.epidermidis, S.aureus and group b streptococcus bacteria. Active against the fungus C.albicans. No activity against P.aeruginosa (PubMed:11034317, PubMed:11113131)., [UniProtKB, PubMed, PubMed]; Liver-produced hormone that constitutes the main circulating regulator of iron absorption and distribution across tissues. Acts by promoting endocytosis and degradation of ferroportin/SLC40A1, leading to the retention of iron in iron-exporting cells and decreased flow of iron into plasma (PubMed:22682227, PubMed:29237594, PubMed:32814342). Controls the major flows of iron into plasma: absorption of dietary iron in the intestine, recycling of iron by macrophages, which phagocytose old erythrocytes and other cells, and mobilization of stored iron from hepatocytes (PubMed:22306005)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Molecular characterization of HAMP rs10421768 gene and phenotypic expression of hepcidin; a case-control study among sickle cell anaemia patients in Ghana. Publication Status: Online-Only, [RefSeq, PubMed]; P. Gingivalis induce macrophage polarization by regulating hepcidin expression in chronic apical periodontitis., [RefSeq, PubMed]; The potential significance of hepcidin evaluation in progressive supranuclear palsy., [RefSeq, PubMed]; The product encoded by this gene is involved in the maintenance of iron homeostasis, and it is necessary for the regulation of iron storage in macrophages, and for intestinal iron absorption. The preproprotein is post-translationally cleaved into mature peptides of 20, 22 and 25 amino acids, and these active peptides are rich in cysteines, which form intramolecular bonds that stabilize their beta-sheet structures. These peptides exhibit antimicrobial activity against bacteria and fungi. Mutations in this gene cause hemochromatosis type 2B, also known as juvenile hemochromatosis, a disease caused by severe iron overload that results in cardiomyopathy, cirrhosis, and endocrine failure. [provided by RefSeq, Oct 2014]., [RefSeq]; The sequencing of the whole hepcidin coding region, intron-exon junctions, 5' and partially 3'UTRs, did not reveal any alteration in the iron overload 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": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 17, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q1HE14;Q9BY68", "ec_number_list": [], "go_molecular_function": "GO:0005179 hormone activity;GO:0141108 transporter regulator activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006955 immune response;GO:0006879 intracellular iron ion homeostasis;GO:0042742 defense response to bacterium;GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "P81172-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TGS1-1", "uniprot_id": [ { "id": "HES3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TGS1", "type": "external" } ], "mass": 19968.0, "length": 186, "protein_name": "Transcription factor HES-3", "gene_name": "HES3", "organism": "Human", "refseq_name": "transcription factor HES-3", "refseq_ac": [ { "id": "NP_001019769", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019769", "type": "external" } ], "gene_names_uniprotkb": "HES3; BHLHB43", "gene_names_refseq": "HES3; bHLHb43", "protein_names_uniprotkb": "Transcription factor HES-3; Class B basic helix-loop-helix protein 43; Hairy and enhancer of split 3; bHLHb43", "protein_names_refseq": "class B basic helix-loop-helix protein 43; hairy and enhancer of split 3; transcription factor HES-3", "tax_id": 9606, "disease": "central nervous system cancer (Disease Ontology:DOID:3620)", "pathway": " (hsa:390992)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;15254753;18162467;23393614;24512568;25371201;26783739;29869612;30911281;35051231", "class_list": "", "function": "CXorf6 transactivates the Hes3 promoter, augments testosterone production, [RefSeq, PubMed]; Data show that transcription factor Hes3 is expressed in adult pancreatic islets and dissociated cultures of pancreatic islet cells., [RefSeq, PubMed]; Expression of the transcription factor Hes3 in the mouse and human ocular surface, and in pterygium, [RefSeq, PubMed]; HES3 overexpression is associated with impaired myogenic differentiation and rhabdomyosarcoma tumorigenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Hes3 is expressed in cultures from glioblastoma multiforme which express neural stem cell markers, [RefSeq, PubMed]; Hes3 regulated cell proliferation and lung cancer invasion.Hes3 regulated Cyclin D1, Cyclin D3 and MMP7 expression in lung cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; The STAT3-Ser/Hes3 Signaling Axis was first identified as a major regulator of neural stem cells and, subsequently, cancer stem cells Review article, [RefSeq, PubMed]; Transcriptional repressor of genes that require a bHLH protein for their transcription., [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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5TGS0", "ec_number_list": [], "go_molecular_function": "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_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:0009952 anterior/posterior pattern specification;GO:0050767 regulation of neurogenesis", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q5TGS1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6MZN7-1", "uniprot_id": [ { "id": "HCP5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6MZN7", "type": "external" } ], "mass": 14098.0, "length": 132, "protein_name": "HLA class I histocompatibility antigen protein P5", "gene_name": "HCP5", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "HCP5", "gene_names_refseq": "", "protein_names_uniprotkb": "HLA class I histocompatibility antigen protein P5; HLA complex protein P5; Protein P5-1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 15, "publication_id_list": "10199916;17641165;18301071;28218747;28832583;29242379;29632046;30315122;31154438;32561536;33298915;33592498;33717175;33912179;8462994", "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": "Q04490", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q6MZN7-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6YN16-1", "uniprot_id": [ { "id": "HSDL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6YN16", "type": "external" } ], "mass": 45395.0, "length": 418, "protein_name": "Hydroxysteroid dehydrogenase-like protein 2", "gene_name": "HSDL2", "organism": "Human", "refseq_name": "hydroxysteroid dehydrogenase-like protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001182751", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182751", "type": "external" } ], "gene_names_uniprotkb": "HSDL2; C9orf99; SDR13C1", "gene_names_refseq": "C9orf99; HSDL2; SDR13C1", "protein_names_uniprotkb": "Hydroxysteroid dehydrogenase-like protein 2; 1.-.-.-; Short chain dehydrogenase/reductase family 13C member 1", "protein_names_refseq": "hydroxysteroid dehydrogenase-like protein 2 isoform 2; hydroxysteroid dehydrogenase-like protein 2; short chain dehydrogenase/reductase family 13C member 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:84263)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "12834046;19703561;24715725;26992070;27920218;28904123;29192674;29557506;30410026;30484775;31217245;31844290;32157095;32357974;32387766;32502341;32938616;33298915;33912179;33968037;34229054;34509645;35154160;35580925;36010968;36215666;36241641;37202189;37217939;37718459;38665916;38820148;38937788;40914422", "class_list": "", "function": "Circular RNA HSDL2 promotes breast cancer progression via miR-7978 ZNF704 axis and regulating hippo signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; HSDL2 knockdown promotes the progression of cholangiocarcinoma by inhibiting ferroptosis through the P53/SLC7A11 axis. Publication Status: Online-Only, [RefSeq, PubMed]; HSDL2 links nutritional cues to bile acid and cholesterol homeostasis., [RefSeq, PubMed]; Has apparently no steroid dehydrogenase activity (PubMed:19703561). Controls bile acid (BA) and lipid metabolism in response to nutritional cues (PubMed:38820148)., [UniProtKB, PubMed, PubMed]; [HSDL2 overexpression promotes rectal cancer progression by regulating cancer cell cycle and promoting cell proliferation]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A8K1L4;A8K8X1;A8MSV3;Q658M8;Q9BT58", "ec_number_list": [], "go_molecular_function": "GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005777 peroxisome;GO:0016020 membrane", "go_biological_process": "GO:0042632 cholesterol homeostasis", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q6YN16-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86YV9-1", "uniprot_id": [ { "id": "HPS6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86YV9", "type": "external" } ], "mass": 82975.0, "length": 775, "protein_name": "BLOC-2 complex member HPS6", "gene_name": "HPS6", "organism": "Human", "refseq_name": "BLOC-2 complex member HPS6", "refseq_ac": [ { "id": "NP_079023", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079023", "type": "external" } ], "gene_names_uniprotkb": "HPS6", "gene_names_refseq": "BLOC2S3; HPS6", "protein_names_uniprotkb": "BLOC-2 complex member HPS6; Hermansky-Pudlak syndrome 6 protein; Ruby-eye protein homolog; Ru", "protein_names_refseq": "BLOC-2 complex member HPS6; Hermansky-Pudlak syndrome-6 protein (HPS6); ruby-eye protein homolog", "tax_id": 9606, "disease": "Hermansky-Pudlak syndrome 6 (Disease Ontology:DOID:0060544); Hermansky-Pudlak syndrome (Disease Ontology:DOID:3753)", "pathway": " (hsa:79803)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "12548288;15030569;16169070;16385451;16837549;17041891;19843503;23481700;24715725;25189619;26154972;27862975;27917594;28218747;28228285;28467828;28832583;28904123;29242379;29437277;29508533;29557506;29632711;29786170;30315122;30369044;31530632;31844290;32157095;32161166;32350084;32387766;32502341;32938616;32983136;33141586;33298915;33392160;33878481;33912179;33936100;33968037;34171305;34211107;34357683;35051231;38091959;40914422", "class_list": "", "function": "Component of BLOC-2. Results suggest a common biological basis underlying the pathogenesis of HPS-3, -5 and -6 disease., [RefSeq, PubMed]; Hermansky-Pudlak syndrome: Five Chinese patients with novel variants in HPS1 and HPS6., [RefSeq, PubMed]; May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules (PubMed:17041891). Acts as a cargo adapter for the dynein-dynactin motor complex to mediate the transport of lysosomes from the cell periphery to the perinuclear region. Facilitates retrograde lysosomal trafficking by linking the motor complex to lysosomes, and perinuclear positioning of lysosomes is crucial for the delivery of endocytic cargos to lysosomes, for lysosome maturation and functioning (PubMed:25189619)., [UniProtKB, PubMed, PubMed]; Molecular studies showed a variety of mutations in the single exon HPS6 gene, including frame shift, missense, and nonsense mutations as well as a approximately 20 kb deletion spanning the entire HPS6 genomic region., [RefSeq, PubMed]; Novel Variants of HPS6 Cause Suspected Ocular Albinism: A Report of 2 Cases and the Profile of HPS6 Variants., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The novel loss-of-function variant in the HPS6 subunit of biogenesis of lysosome-related organelles complex 2 is pathologic and leads to a reduced platelet dense granules and their release. The findings are compatible with an impaired platelet function and hence an enhanced bleeding risk., [RefSeq, PubMed]; This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008]., [RefSeq]; We report a novel homozygous c.383 T > C missense variant in HPS6 associated with low cellular levels of HPS6 mRNA and protein in an individual with subclinical oculocutaneous albinism and a history of severe bleeding, [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": 3, "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": "Q5VV69;Q9H685", "ec_number_list": [], "go_molecular_function": "GO:0031267 small GTPase binding;GO:0030742 GTP-dependent protein binding", "go_cellular_component": "GO:0005769 early endosome;GO:0005829 cytosol;GO:0016020 membrane;GO:0005765 lysosomal membrane;GO:0031901 early endosome membrane", "go_biological_process": "GO:1903232 melanosome assembly;GO:0060155 platelet dense granule organization;GO:0072657 protein localization to membrane;GO:0032418 lysosome localization", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q86YV9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q969F9-1", "uniprot_id": [ { "id": "HPS3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q969F9", "type": "external" } ], "mass": 113736.0, "length": 1004, "protein_name": "BLOC-2 complex member HPS3", "gene_name": "HPS3", "organism": "Human", "refseq_name": "BLOC-2 complex member HPS3 isoform 2", "refseq_ac": [ { "id": "NP_001295187", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295187", "type": "external" } ], "gene_names_uniprotkb": "HPS3", "gene_names_refseq": "BLOC2S1; HPS3; SUTAL", "protein_names_uniprotkb": "BLOC-2 complex member HPS3; Hermansky-Pudlak syndrome 3 protein", "protein_names_refseq": "BLOC-2 complex member HPS3 isoform 2; BLOC-2 complex member HPS3; Hermansky-Pudlak syndrome 3 protein", "tax_id": 9606, "disease": "Hermansky-Pudlak syndrome 3 (Disease Ontology:DOID:0060541); platelet storage pool deficiency (Disease Ontology:DOID:2223); Hermansky-Pudlak syndrome (Disease Ontology:DOID:3753)", "pathway": " (hsa:84343)", "pathway_count": 1, "publication_count": 78, "publication_id_list": "11237011;11455388;11590544;15030569;16959974;18452278;22869377;23481700;24714562;24715725;25189619;25418920;25576301;25880248;25892735;26375851;26811146;26992070;27593200;27600516;27846572;27862975;28063628;28218747;28228285;28467828;28514659;28832583;28834231;28904123;29242379;29331515;29371260;29393594;29437277;29557506;29632046;29769354;29786170;30315122;30410026;30429286;30779550;31154438;31530632;31621111;31844290;31937595;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33392160;33537174;33592498;33630763;33717175;33912179;33968037;34087483;34185709;34357683;34509645;34932366;35051231;35154160;35318648;35580925;36010968;36215666;36672886;37938771", "class_list": "", "function": "HPS3 mutation is associated with high hypopigmentation in Hermansky-Pudlak syndrome., [RefSeq, PubMed]; Involved in early stages of melanosome biogenesis and maturation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Mutational analysis in Ashkenazi Jews with Hermansky-Pudlak syndrome 3, [RefSeq, PubMed]; Report of Hermansky-Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes. Publication Status: Online-Only, [RefSeq, PubMed]; Subclinical hypopigmentation of the skin and hair in a Japanese patient with Hermansky-Pudlak syndrome type 3., [RefSeq, PubMed]; This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. [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": 3, "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": "A8K6G6;Q8WTV6;Q96AP1;Q96MR3;Q9H608", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005829 cytosol;GO:0031084 BLOC-2 complex", "go_biological_process": "GO:1903232 melanosome assembly;GO:0060155 platelet dense granule organization;GO:0043473 pigmentation", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q969F9-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBK5-1", "uniprot_id": [ { "id": "HCST_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBK5", "type": "external" } ], "mass": 9489.0, "length": 93, "protein_name": "Hematopoietic cell signal transducer", "gene_name": "HCST", "organism": "Human", "refseq_name": "hematopoietic cell signal transducer isoform 2 precursor", "refseq_ac": [ { "id": "NP_001007470", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007470", "type": "external" } ], "gene_names_uniprotkb": "HCST; DAP10; KAP10; PIK3AP; PRO1157", "gene_names_refseq": "DAP10; HCST; KAP10; PIK3AP", "protein_names_uniprotkb": "Hematopoietic cell signal transducer; DNAX-activation protein 10; Membrane protein DAP10; Transmembrane adapter protein KAP10", "protein_names_refseq": "DNAX-activation protein 10; hematopoietic cell signal transducer isoform 2 precursor; kinase assoc pro of ~10kDa; kinase assoc protein; membrane protein DAP10; phosphoinositide-3-kinase adaptor protein; transmembrane adapter protein KAP10", "tax_id": 9606, "disease": "", "pathway": " (hsa:10870); (R-HSA-198933)", "pathway_count": 2, "publication_count": 125, "publication_id_list": "10426994;10499918;10528161;10746781;11015446;11265639;11398969;11489943;11513152;11556966;11777960;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12483297;12588680;12740575;12740576;12975309;14719373;14970179;15034010;15136729;15155468;15187158;15294961;15304001;15534202;15541655;15580655;15607800;15778510;15781451;15800062;15851719;15864273;15894612;16002667;16014749;16091383;16129954;16339513;16339517;16380601;16424177;16551255;16582911;16737824;16754721;16893496;16904340;16928187;17045824;17057721;17237375;17337780;18031695;18037897;18055229;18097042;18209062;18234675;18593354;19149696;19359216;19592130;20730098;21241660;21800138;21841309;21877119;22396535;23695528;23929856;24305946;24715725;25703557;25716998;26154972;26221034;26284469;26300885;26375851;26508790;26758079;26992070;27893789;28228285;29557506;29786170;30315122;30410026;30429286;30573663;31092671;31154438;31217245;31235500;31844290;32357974;32387766;32983136;33141586;33153411;33298915;33392160;33912179;34357683;34932366;35051231;35580925;37938771;7531291;7542404;8178173;8995416;9285412;9314561;9700512;9730896", "class_list": "", "function": "CSF1R and HCST: Novel Candidate Biomarkers Predicting the Response to Immunotherapy in Non-Small Cell Lung Cancer., [RefSeq, PubMed]; NKG2D-DAP10 signaling recruits EVL to the cytotoxic synapse to generate F-actin and promote NK cell cytotoxicity. Publication Status: Online-Only, [RefSeq, PubMed]; These results suggest that NKG2D-DAP10 endocytosis represents a means to decrease cell surface receptor abundance, as well as to control signaling outcome in cytotoxic lymphocytes. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a transmembrane signaling adaptor that contains a YxxM motif in its cytoplasmic domain. The encoded protein may form part of the immune recognition receptor complex with the C-type lectin-like receptor NKG2D. As part of this receptor complex, this protein may activate phosphatidylinositol 3-kinase dependent signaling pathways through its intracytoplasmic YxxM motif. This receptor complex may have a role in cell survival and proliferation by activation of NK and T cell responses. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]; Transmembrane adapter protein which associates with KLRK1 to form an activation receptor KLRK1-HCST in lymphoid and myeloid cells; this receptor plays a major role in triggering cytotoxicity against target cells expressing cell surface ligands such as MHC class I chain-related MICA and MICB, and UL16-binding proteins (ULBPs); these ligands are up-regulated by stress conditions and pathological state such as viral infection and tumor transformation. Functions as a docking site for PI3-kinase PIK3R1 and GRB2. Interaction of ULBPs with KLRK1-HCST triggers calcium mobilization and activation of the PIK3R1, MAP2K/ERK, and JAK2/STAT5 signaling pathways. Both PIK3R1 and GRB2 are required for full KLRK1-HCST-mediated activation and ultimate killing of target cells. In NK cells, KLRK1-HCST signaling directly induces cytotoxicity and enhances cytokine production initiated via DAP12/TYROBP-associated receptors. In T-cells, it provides primarily costimulation for TCR-induced signals. KLRK1-HCST receptor plays a role in immune surveillance against tumors and is required for cytolysis of tumors cells; indeed, melanoma cells that do not express KLRK1 ligands escape from immune surveillance mediated by NK cells., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 3, "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": "Q9UBS1;Q9Y3Y0", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0030674 protein-macromolecule adaptor activity;GO:0043548 phosphatidylinositol 3-kinase binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0051897 positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0050776 regulation of immune response;GO:0042267 natural killer cell mediated cytotoxicity", "synthesized_glycan_count": 0, "hit_score": 12.6, "record_id": "Q9UBK5-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49683-1", "uniprot_id": [ { "id": "PRLHR_HUMAN", "url": "https://www.uniprot.org/uniprot/P49683", "type": "external" } ], "mass": 41121.0, "length": 370, "protein_name": "Prolactin-releasing peptide receptor", "gene_name": "PRLHR", "organism": "Human", "refseq_name": "prolactin-releasing peptide receptor", "refseq_ac": [ { "id": "NP_004239", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004239", "type": "external" } ], "gene_names_uniprotkb": "PRLHR; GPR10; GR3", "gene_names_refseq": "GPR10; GR3; PRLHR; PrRPR", "protein_names_uniprotkb": "Prolactin-releasing peptide receptor; G protein-coupled receptor 10; PrRP receptor; PrRPR; hGR3", "protein_names_refseq": "G-protein coupled receptor 10; hGR3; prRP receptor; prolactin-releasing peptide receptor", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763); Parkinson's disease (Disease Ontology:DOID:14330); alcohol use disorder (Disease Ontology:DOID:1574); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:2834); (R-HSA-375276)", "pathway_count": 2, "publication_count": 98, "publication_id_list": "10079109;10100623;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10604470;10854085;10899166;11322507;11385580;11457843;11562423;11641419;11683476;11773063;11923475;12427552;12540846;12719537;1280419;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;15139756;15539556;1567413;15947423;16362076;1655761;1710450;1710578;1719979;1722333;18127230;1847994;23446738;23690594;24906252;26302849;2649896;27496565;3202875;3366244;35051231;3525564;36922513;3856870;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7797512;7905839;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8440682;8463333;8503909;8615752;8666380;8702752;873923;8823230;9171878;9521323;9530155;9593744;9607765;9685625;9722565;9792798;9832121;9851594", "class_list": "", "function": "A rare human variant that disrupts GPR10 signalling causes weight gain in mice. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for prolactin-releasing peptide (PrRP). Implicated in lactation, regulation of food intake and pain-signal processing., [UniProtKB]; The genotype 'A/T' of rs12413624 in PRLHR gene was associated with a decreased risk of colorectal cancer. 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": 7, "reported_glycation": 0, "reported_snv": 15, "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": "O75194;Q502U8;Q5VXR9", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0008188 neuropeptide receptor activity;GO:0004983 neuropeptide Y receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005929 cilium;GO:0043005 neuron projection;GO:0097731 9+0 non-motile cilium", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007218 neuropeptide signaling pathway;GO:0007565 female pregnancy;GO:0007631 feeding behavior", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "P49683-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P98179-1", "uniprot_id": [ { "id": "RBM3_HUMAN", "url": "https://www.uniprot.org/uniprot/P98179", "type": "external" } ], "mass": 17170.0, "length": 157, "protein_name": "RNA-binding protein 3", "gene_name": "RBM3", "organism": "Human", "refseq_name": "RNA-binding protein 3", "refseq_ac": [ { "id": "NP_006734", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006734", "type": "external" } ], "gene_names_uniprotkb": "RBM3; RNPL", "gene_names_refseq": "IS1-RNPL; RBM3; RNPL", "protein_names_uniprotkb": "RNA-binding protein 3; RNA-binding motif protein 3; RNPL", "protein_names_refseq": "RNA binding motif (RNP1, RRM) protein 3; RNA-binding protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:5935)", "pathway_count": 1, "publication_count": 77, "publication_id_list": "15075239;15144186;17389395;18669648;18991276;20068231;20112406;22984286;23186163;24129315;25418920;25576301;25892735;26154972;26992070;27600516;27862975;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29786170;29789417;30379171;30429286;30484775;30524438;30833945;31154438;31217245;31530632;31844290;31848261;32157095;32265295;32387766;32488085;32897882;32983136;33214551;33392160;33592498;33717175;33912179;33968037;33981976;34019948;34087483;34171305;34561969;34932366;35051231;35318648;35561310;35580925;35930183;36192581;36241641;36284347;36581221;36781430;36866549;37938771;37982286;38665916;8634703", "class_list": "", "function": "Cold-inducible mRNA binding protein that enhances global protein synthesis at both physiological and mild hypothermic temperatures. Reduces the relative abundance of microRNAs, when overexpressed. Enhances phosphorylation of translation initiation factors and active polysome formation (By similarity)., [UniProtKB]; Influence of RRM, RGG and Potential Phosphorylated Sites in Cold-Inducible Protein RBM3 on its Subcellular Localization and Neuroprotective Effects., [RefSeq, PubMed]; Mild hypothermia ameliorates hepatic ischemia reperfusion injury by inducing RBM3 expression., [RefSeq, PubMed]; RBM3 Accelerates Wound Healing of Skin in Diabetes through ERK1/2 Signaling., [RefSeq, PubMed]; RBM3 and CIRP are adaptatively expressed in response to hypoxia by a mechanism that involves neither HIF-1 nor mitochondria, [RefSeq, PubMed]; RBM3 interacts with Raptor to regulate autophagy and protect cardiomyocytes from ischemia-reperfusion-induced injury., [RefSeq, PubMed]; RBM3 is associated with acute lung injury in septic mice and patients via the NF-kappaB/NLRP3 pathway., [RefSeq, PubMed]; This gene is a member of the glycine-rich RNA-binding protein family and encodes a protein with one RNA recognition motif (RRM) domain. Expression of this gene is induced by cold shock and low oxygen tension. A pseudogene exists on chromosome 1. Multiple alternatively spliced transcript variants that are predicted to encode different isoforms have been characterized although some of these variants fit nonsense-mediated decay (NMD) criteria. [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": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0043023 ribosomal large subunit binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0030425 dendrite;GO:0005681 spliceosomal complex", "go_biological_process": "GO:0006396 RNA processing;GO:0006417 regulation of translation;GO:0045727 positive regulation of translation;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "P98179-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZMU5-1", "uniprot_id": [ { "id": "TRI72_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZMU5", "type": "external" } ], "mass": 52731.0, "length": 477, "protein_name": "Tripartite motif-containing protein 72", "gene_name": "TRIM72", "organism": "Human", "refseq_name": "tripartite motif-containing protein 72", "refseq_ac": [ { "id": "NP_001008275", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008275", "type": "external" } ], "gene_names_uniprotkb": "TRIM72; MG53", "gene_names_refseq": "MG53; TRIM72", "protein_names_uniprotkb": "Tripartite motif-containing protein 72; 2.3.2.27; Mg53; Mitsugumin-53", "protein_names_refseq": "mitsugumin-53; tripartite motif containing 72, E3 ubiquitin protein ligase; tripartite motif-containing protein 72", "tax_id": 9606, "disease": "", "pathway": " (hsa:493829); (R-HSA-445355)", "pathway_count": 2, "publication_count": 51, "publication_id_list": "10991994;11242081;11457814;11532985;11889009;12048254;14506282;14627618;15377279;156362;17055381;18974361;19129174;1930128;19380584;19967786;21343302;22421042;22778174;23834404;24487118;24872348;2526655;25576301;26362469;26992070;2764880;27679490;28741090;29557506;30524438;31844290;32387766;32502341;33141586;33936100;35438597;35580925;36053137;36241641;36814155;36944613;37169128;37770719;3780718;39267782;8858389;9481611;9598563;9600334;9855623", "class_list": "", "function": "Cryo-EM structure of human MG53 homodimer., [RefSeq, PubMed]; Crystal structure of PRY-SPRY domain of human TRIM72., [RefSeq, PubMed]; MG53 ameliorates nerve injury induced neuropathic pain through the regulation of Nrf2/HO-1 signaling in rats., [RefSeq, PubMed]; MG53 represses high glucose-induced inflammation and angiogenesis in human retinal endothelial cells by repressing the EGR1/STAT3 axis., [RefSeq, PubMed]; Membrane-delimited interaction between MG53 and PTRF contributes to initiation of cell membrane repair, [RefSeq, PubMed]; Mitochondria-encoded peptide MOTS-c participates in plasma membrane repair by facilitating the translocation of TRIM72 to membrane. Publication Status: Online-Only, [RefSeq, PubMed]; Muscle-specific E3 ubiquitin-protein ligase that plays a central role in cell membrane repair by nucleating the assembly of the repair machinery at injury sites (PubMed:36944613). Its ubiquitination activity is mediated by E2 ubiquitin-conjugating enzymes UBE2D1, UBE2D2 and UBE2D3 (By similarity). Acts as a sensor of oxidation: upon membrane damage, entry of extracellular oxidative environment results in disulfide bond formation and homooligomerization at the injury site (By similarity). This oligomerization acts as a nucleation site for recruitment of TRIM72-containing vesicles to the injury site, leading to membrane patch formation (By similarity). Probably acts upstream of the Ca(2+)-dependent membrane resealing process (By similarity). Required for transport of DYSF to sites of cell injury during repair patch formation (By similarity). Regulates membrane budding and exocytosis (By similarity). May be involved in the regulation of the mobility of KCNB1-containing endocytic vesicles (By similarity)., [UniProtKB, PubMed, UniProtKB]; Observational study and meta-analysis of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Tripartite motif 72 inhibits apoptosis and mitochondrial dysfunction in neural stem cells induced by anesthetic sevoflurane by activating PI3K/AKT 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q8N4X6;Q8NBD9", "ec_number_list": [ { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0061630 ubiquitin protein ligase activity;GO:0001786 phosphatidylserine binding;GO:0031624 ubiquitin conjugating enzyme binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0030659 cytoplasmic vesicle membrane;GO:0042383 sarcolemma", "go_biological_process": "GO:0001778 plasma membrane repair;GO:0045087 innate immune response;GO:0051260 protein homooligomerization;GO:0007517 muscle organ development;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q6ZMU5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95084-1", "uniprot_id": [ { "id": "PRS23_HUMAN", "url": "https://www.uniprot.org/uniprot/O95084", "type": "external" } ], "mass": 43001.0, "length": 383, "protein_name": "Serine protease 23", "gene_name": "PRSS23", "organism": "Human", "refseq_name": "serine protease 23 precursor", "refseq_ac": [ { "id": "NP_001280108", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280108", "type": "external" } ], "gene_names_uniprotkb": "PRSS23; PRO307; ZSIG13", "gene_names_refseq": "PRSS23; SIG13; SPUVE; ZSIG13", "protein_names_uniprotkb": "Serine protease 23; 3.4.21.-; Putative secreted protein Zsig13", "protein_names_refseq": "protease, serine 23; putative secreted protein Zsig13; serine protease 23 precursor; serine protease, umbilical endothelium", "tax_id": 9606, "disease": "", "pathway": " (hsa:11098); (R-HSA-381426); (R-HSA-8957275)", "pathway_count": 3, "publication_count": 93, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10026136;10077652;10218588;10512690;10614670;10681634;10810289;10898936;10912521;10951195;10990447;11158056;11230166;11237011;11250653;11264294;11316783;11522292;11606061;11739083;11751371;11788658;12241545;12379487;12466191;12810533;12904166;12975309;1370451;1383255;15126567;15308688;15469690;15485880;15525596;15642270;17047378;17249697;17312271;17985932;20112406;22291950;23090970;23584533;24190977;2476804;2479552;25645385;26091039;26154972;27397612;27862975;29393594;29557506;29632711;29741879;29786170;29789417;30484775;30769097;31154438;31844290;31848261;32983136;33592498;33968037;34171305;34270841;35051231;36189305;37074911;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7683646;7689487;8781553;8817670;8894645;8964575;9497324;9709957;9733769;9786878;9922210", "class_list": "", "function": "Exosomal microRNA-1246 from human umbilical cord mesenchymal stem cells potentiates myocardial angiogenesis in chronic heart failure., [RefSeq, PubMed]; PRSS23 knockdown could suppress tumor growth of gastric cancer in vitro and in vivo through inhibiting EIF2 signaling, and EIF4E maybe a potential target of PRSS23. PRSS23 could serve as a potential target for gastric cancer therapy, and also a biomarker for the prediction of prognosis of gastric cancer., [RefSeq, PubMed]; PRSS23 might be a critical component of estrogen-mediated cell proliferation of ERalpha-positive breast cancer cells., [RefSeq, PubMed]; Serine protease PRSS23 drives gastric cancer by enhancing tumor associated macrophage infiltration via FGF2. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a conserved member of the trypsin family of serine proteases. Mouse studies found a decrease of mRNA levels of this gene after ovulation was induced. 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": 2, "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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2RDJ1;B4E2J3;Q6IBI0", "ec_number_list": [ { "id": "1.8.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.2", "type": "external" }, { "id": "3.4.24.81", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.81", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "1.16.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.1", "type": "external" }, { "id": "1.11.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.9", "type": "external" }, { "id": "1.16.3.4", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.4", "type": "external" }, { "id": "3.4.21.69", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.69", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.4.21.112", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.112", "type": "external" }, { "id": "3.1.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.98", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" }, { "id": "3.2.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.51", "type": "external" }, { "id": "2.4.1.145", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.145", "type": "external" } ], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005788 endoplasmic reticulum lumen;GO:0070062 extracellular exosome;GO:0005576 extracellular region", "go_biological_process": "GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 10.6, "record_id": "O95084-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UPZ3-1", "uniprot_id": [ { "id": "HPS5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UPZ3", "type": "external" } ], "mass": 127449.0, "length": 1129, "protein_name": "BLOC-2 complex member HPS5", "gene_name": "HPS5", "organism": "Human", "refseq_name": "BLOC-2 complex member HPS5 isoform b", "refseq_ac": [ { "id": "NP_009147", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009147", "type": "external" } ], "gene_names_uniprotkb": "HPS5; AIBP63; KIAA1017", "gene_names_refseq": "AIBP63; BLOC2S2; HPS5", "protein_names_uniprotkb": "BLOC-2 complex member HPS5; Alpha-integrin-binding protein 63; Hermansky-Pudlak syndrome 5 protein; Ru2; Ruby-eye protein 2 homolog", "protein_names_refseq": "BLOC-2 complex member HPS5 isoform b; BLOC-2 complex member HPS5; Hermansky-Pudlak syndrome 5 protein; alpha integrin binding protein 63; ruby-eye protein 2 homolog", "tax_id": 9606, "disease": "Hermansky-Pudlak syndrome 5 (Disease Ontology:DOID:0060543); platelet storage pool deficiency (Disease Ontology:DOID:2223); Hermansky-Pudlak syndrome (Disease Ontology:DOID:3753); proteinuria (Disease Ontology:DOID:576)", "pathway": " (hsa:11234)", "pathway_count": 1, "publication_count": 82, "publication_id_list": "10094488;11237011;12548288;15030569;15296495;17301833;17525332;18220336;18669648;19007248;19691289;20068231;22544926;22645359;23186163;23301498;23481700;24275569;24714562;24715725;25189619;25576301;25645385;26154972;26375851;26728094;26811146;26992070;27593200;27600516;27846572;27920218;28063628;28218747;28228285;28832583;28834231;29090612;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30429286;30524438;31844290;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33633747;33717175;33912179;33936100;33968037;34087483;34171305;34211107;34357683;34405274;34509645;34932366;35051231;35561310;35580925;36010968;36284347;37938771;39531497", "class_list": "", "function": "Component of BLOC-2. Results suggest a common biological basis underlying the pathogenesis of HPS-3, -5 and -6 disease., [RefSeq, PubMed]; HPS5 mutation is associated with high hypopigmentation in Hermansky-Pudlak syndrome., [RefSeq, PubMed]; LAMP-3 distribution was restricted to the perinuclear region in HPS-5 fibroblasts, instead of extending to the periphery, [RefSeq, PubMed]; May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Regulates intracellular vesicular trafficking in fibroblasts. May be involved in the regulation of general functions of integrins., [UniProtKB, PubMed, PubMed]; This case underscores the importance of recognizing the mild clinical phenotype of HPS-5 and utilization of both laboratory and molecular testing for diagnosis, prognostication, and surveillance for end organ damage in patients affected with HPS. Review article, [RefSeq, PubMed]; This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 18, "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": "A8K6J8;A8K8S1;D3DQX9;D3DQY0;O95942;Q8N4U0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005829 cytosol;GO:0031084 BLOC-2 complex", "go_biological_process": "GO:1903232 melanosome assembly;GO:0060155 platelet dense granule organization;GO:0048066 developmental pigmentation", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "Q9UPZ3-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96AH0-1", "uniprot_id": [ { "id": "SOSB2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96AH0", "type": "external" } ], "mass": 22423.0, "length": 204, "protein_name": "SOSS complex subunit B2", "gene_name": "NABP1", "organism": "Human", "refseq_name": "SOSS complex subunit B2 isoform 1", "refseq_ac": [ { "id": "NP_001026886", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026886", "type": "external" } ], "gene_names_uniprotkb": "NABP1; OBFC2A; SSB2", "gene_names_refseq": "NABP1-OT1; NABP1; OBFC2A; SOSS-B2; SSB2", "protein_names_uniprotkb": "SOSS complex subunit B2; Nucleic acid-binding protein 1; Oligonucleotide/oligosaccharide-binding fold-containing protein 2A; SOSS-B2; Sensor of single-strand DNA complex subunit B2; Sensor of ssDNA subunit B2; Single-stranded DNA-binding protein 2; hSSB2", "protein_names_refseq": "NABP1 3'UTR overlapping transcript 1; SOSS complex subunit B2 isoform 1; SOSS complex subunit B2; lncRNA AK130181; oligonucleotide/oligosaccharide-binding fold containing 2A; oligonucleotide/oligosaccharide-binding fold-containing protein 2A; sensor of single-strand DNA complex subunit B2; sensor of ssDNA subunit B2; single-stranded DNA-binding protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:64859); (R-HSA-6807505)", "pathway_count": 2, "publication_count": 53, "publication_id_list": "10022900;11237011;11856838;12414730;12574128;14701755;1535687;16239144;16308568;16901896;1739980;18079403;1829677;19605351;19667075;19683501;20457598;2125285;22137580;22231121;22252320;22441827;23166507;23932780;24097444;24270878;24997600;25418920;25675981;27793000;28904123;29393594;2944599;29485866;29632046;31844290;32938616;33298915;34642383;35051231;38253038;40596516;7715707;8253082;8339931;8628262;8668525;9009278;9153304;9188510;9407024;9705341;9832505", "class_list": "", "function": "Component of the SOSS complex, a multiprotein complex that functions downstream of the MRN complex to promote DNA repair and G2/M checkpoint. In the SOSS complex, acts as a sensor of single-stranded DNA that binds to single-stranded DNA, in particular to polypyrimidines. The SOSS complex associates with DNA lesions and influences diverse endpoints in the cellular DNA damage response including cell-cycle checkpoint activation, recombinational repair and maintenance of genomic stability. Required for efficient homologous recombination-dependent repair of double-strand breaks (DSBs) and ATM-dependent signaling pathways., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; HSSB1 and hSSB2 form two separate complexes with similar structures, and both complexes participate in DNA damage response., [RefSeq, PubMed]; HSSB2 (NABP1) is required for the recruitment of RPA during the cellular response to DNA UV damage. Publication Status: Online-Only, [RefSeq, PubMed]; SNPs rs11903757, with closest proximity to NABP1 and SDPR, and rs966423 in DIRC3, were associated with survival in laryngeal squamous cell carcinoma patients., [RefSeq, PubMed]; Single-stranded DNA (ssDNA)-binding proteins, such as OBFC2A, are ubiquitous and essential for a variety of DNA metabolic processes, including replication, recombination, and detection and repair of damage (Richard et al., 2008 [PubMed 18449195]).[supplied by OMIM, Jun 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": 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": "Q658Y8;Q9H5X6", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0003697 single-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0035861 site of double-strand break;GO:0000781 chromosome, telomeric region", "go_biological_process": "GO:0006281 DNA repair;GO:0006974 DNA damage response;GO:0010212 response to ionizing radiation;GO:0000724 double-strand break repair via homologous recombination;GO:0044818 mitotic G2/M transition checkpoint", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q96AH0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P58166-1", "uniprot_id": [ { "id": "INHBE_HUMAN", "url": "https://www.uniprot.org/uniprot/P58166", "type": "external" } ], "mass": 38561.0, "length": 350, "protein_name": "Inhibin beta E chain", "gene_name": "INHBE", "organism": "Human", "refseq_name": "inhibin beta E chain preproprotein", "refseq_ac": [ { "id": "NP_113667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_113667", "type": "external" } ], "gene_names_uniprotkb": "INHBE", "gene_names_refseq": "INHBE", "protein_names_uniprotkb": "Inhibin beta E chain; Activin beta-E chain", "protein_names_refseq": "activin beta-E chain; inhibin beta E chain preproprotein; inhibin beta E chain; inhibin beta E subunit", "tax_id": 9606, "disease": "", "pathway": " (hsa:83729); (R-HSA-209822)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;1191677;12242034;16123088;16426570;16527410;1688430;16959974;18413775;19159218;20012305;23090970;23584533;24190977;25418920;28834231;28904123;29242379;29314611;29391424;29596463;30459171;30573663;31611695;31844290;31848261;32350084;32938616;33298915;33912179;33968037;34509645;34515260;35251023;35896531;35999217;37074911;37922570;38533769;6774759;7215288", "class_list": "", "function": "Activin E has a role in regulating the proliferation of pancreatic exocrine cells, [RefSeq, PubMed]; Activin E is a homodimer of INHBE secreted by the liver that plays a crucial role in regulating metabolic homeostasis particularly in lipid metabolism and energy homeostasis. Plays a central role in the regulation of adipose tissue lipolysis by preventing the influx of fatty acids from adipose tissue into the liver. Mechanistically, signals via ACVR1C to activate SMAD2/3 signaling, suppressing PPARG target genes in adipose tissue, thereby reducing liver lipid content and improving glycemic control (PubMed:38533769). Induces beige adipocyte formation and thermogenesis in response to cold exposure (By similarity)., [UniProtKB, PubMed, UniProtKB]; CDNA cloning from a liver cDNA library, deduction of amino acid sequence, binding to follistatin, and analysis of the transcript in human liver, [RefSeq, PubMed]; Expression of the inhibin betaC and betaE subunits was demonstrated at the protein level and at the transcriptional level in normal human endometrial tissue and in the Ishikawa human endometrial carcinoma cell line., [RefSeq, PubMed]; INHBE functions as a possible hepatokine to alter the whole-body metabolic status under obese insulin-resistant condition Publication Status: Online-Only, [RefSeq, PubMed]; Identification and validation of INHBE and P4HA1 as hub genes in non-alcoholic fatty liver disease., [RefSeq, PubMed]; Inhibins and activins inhibit and activate, respectively, the secretion of follitropin by the pituitary gland. Inhibins/activins are involved in regulating a number of diverse functions such as hypothalamic and pituitary hormone secretion, gonadal hormone secretion, germ cell development and maturation, erythroid differentiation, insulin secretion, nerve cell survival, embryonic axial development or bone growth, depending on their subunit composition. Inhibins appear to oppose the functions of activins., [UniProtKB]; Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Rare loss of function variants in the hepatokine gene INHBE protect from abdominal obesity. Publication Status: Online-Only, [RefSeq, PubMed]; The Significance of INHBE Expression in the Cancer Cells of Clear-Cell Renal Cell Carcinoma., [RefSeq, PubMed]; This gene encodes a member of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate an inhibin beta subunit. Inhibins have been implicated in regulating numerous cellular processes including cell proliferation, apoptosis, immune response and hormone secretion. This gene may be upregulated under conditions of endoplasmic reticulum stress, and this protein may inhibit cellular proliferation and growth in pancreas and liver. [provided by RefSeq, Sep 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 12, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0005125 cytokine activity;GO:0005179 hormone activity;GO:0008083 growth factor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0031012 extracellular matrix", "go_biological_process": "GO:0007178 cell surface receptor protein serine/threonine kinase signaling pathway;GO:1904178 negative regulation of adipose tissue development", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "P58166-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NYI0-1", "uniprot_id": [ { "id": "PSD3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NYI0", "type": "external" } ], "mass": 116034.0, "length": 1048, "protein_name": "PH and SEC7 domain-containing protein 3", "gene_name": "PSD3", "organism": "Human", "refseq_name": "PH and SEC7 domain-containing protein 3 isoform 1", "refseq_ac": [ { "id": "NP_056125", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056125", "type": "external" } ], "gene_names_uniprotkb": "PSD3; EFA6D; EFA6R; HCA67; KIAA0942", "gene_names_refseq": "EFA6D; EFA6R; HCA67; PSD3", "protein_names_uniprotkb": "PH and SEC7 domain-containing protein 3; Epididymis tissue protein Li 20mP; Exchange factor for ADP-ribosylation factor guanine nucleotide factor 6 D; Exchange factor for ARF6 D; Hepatocellular carcinoma-associated antigen 67; Pleckstrin homology and SEC7 domain-containing protein 3", "protein_names_refseq": "ADP-ribosylation factor guanine nucleotide factor 6; PH and SEC7 domain-containing protein 3 isoform 1; PH and SEC7 domain-containing protein 3; epididymis tissue protein Li 20mP; exchange factor for ADP-ribosylation factor guanine nucleotide factor 6 D; exchange factor for ARF6 D; hepatocellular carcinoma-associated antigen 67; pleckstrin homology and SEC7 domain-containing protein 3", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:23362)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12097419;16270321;18649358;18669648;20080650;20736409;24275569;25296758;25505266;26992070;27600516;28237857;28832583;29393594;29557506;31844290;32157095;32387766;32488085;32502341;32938616;33592498;33912179;33968037;33981976;35051231;35102341;35318648;35494241;35580925;36010968", "class_list": "", "function": "Common variants in PSD3 were associated with obesity, T2D and HDL level, [RefSeq, PubMed]; Down regulated in ovarian cancer or absent in ovarian cancer and impact survival., [RefSeq, PubMed]; EFA6R regulated ARF6 localization and thereby actin stress fiber loss., [RefSeq, PubMed]; Guanine nucleotide exchange factor for ARF6., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; PSD3 downregulation confers protection against fatty liver 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": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 9310, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NFQ4;E9KL50;Q6B003;Q9Y2F1", "ec_number_list": [], "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0014069 postsynaptic density;GO:0032587 ruffle membrane", "go_biological_process": "GO:0016192 vesicle-mediated transport;GO:0032012 regulation of ARF protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q9NYI0-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BRU9-1", "uniprot_id": [ { "id": "UTP23_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BRU9", "type": "external" } ], "mass": 28402.0, "length": 249, "protein_name": "rRNA-processing protein UTP23 homolog", "gene_name": "UTP23", "organism": "Human", "refseq_name": "rRNA-processing protein UTP23 homolog", "refseq_ac": [ { "id": "NP_115710", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115710", "type": "external" } ], "gene_names_uniprotkb": "UTP23; C8orf53", "gene_names_refseq": "C8orf53; UTP23", "protein_names_uniprotkb": "rRNA-processing protein UTP23 homolog", "protein_names_refseq": "UTP23, small subunit (SSU) processome component, homolog; rRNA-processing protein UTP23 homolog", "tax_id": 9606, "disease": "colorectal adenocarcinoma (Disease Ontology:DOID:0050861)", "pathway": " (hsa:84294)", "pathway_count": 1, "publication_count": 46, "publication_id_list": "11237011;20068231;23481700;24715725;25576301;25645385;26154972;26811146;27846572;27862975;27920218;28082392;28510447;28832583;28834231;28904123;29242379;29485866;29508533;29557506;29632711;29786170;30429286;31540773;31844290;31848261;31998317;32157095;32357974;32387766;32897882;32938616;33123756;33141586;33298915;33936100;33968037;34087483;34171305;34211107;34357683;35051231;35494241;37880005;38305284;38372088", "class_list": "", "function": "Cytoplasmic expression of UTP23 promotes colorectal cancer progression. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in rRNA-processing and ribosome biogenesis., [UniProtKB, UniProtKB, UniProtKB]; Our findings elucidated a previously unknown function for UTP23 in regulating paclitaxel sensitivity and UTP23 could serve as a potential prognostic predictor for ovarian cancer, [RefSeq, PubMed]; UTP23 Functions in Breast Cancer Progression and Predicts Poor Prognosis of Luminal a Breast Cancer., [RefSeq, PubMed]; UTP23 Is a Promising Prognostic Biomarker and Is Associated with Immune Infiltration in Breast Cancer., [RefSeq, PubMed]; YUtp23/hUTP23 could therefore be central to the coordinated integration and release of ES6 binding factors and likely plays a pivotal role in remodeling this pre-rRNA region in both yeast and humans. Finally, studies using RNAi-rescue systems in human cells revealed that intact PIN domain and Zinc finger motifs in human hUTP23 are essential for 18S rRNA maturation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B2RE25;Q96NJ8", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003730 mRNA 3'-UTR binding;GO:0048027 mRNA 5'-UTR binding;GO:0070181 small ribosomal subunit rRNA binding", "go_cellular_component": "GO:0005730 nucleolus;GO:0032040 small-subunit processome", "go_biological_process": "GO:0006364 rRNA processing", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q9BRU9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NFP7-1", "uniprot_id": [ { "id": "NUD10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NFP7", "type": "external" } ], "mass": 18500.0, "length": 164, "protein_name": "Diphosphoinositol polyphosphate phosphohydrolase 3-alpha", "gene_name": "NUDT10", "organism": "Human", "refseq_name": "diphosphoinositol polyphosphate phosphohydrolase 3-alpha", "refseq_ac": [ { "id": "NP_001291892", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291892", "type": "external" } ], "gene_names_uniprotkb": "NUDT10; APS2; DIPP3A", "gene_names_refseq": "APS2; DIPP3-alpha; DIPP3a; NUDT10", "protein_names_uniprotkb": "Diphosphoinositol polyphosphate phosphohydrolase 3-alpha; 3.6.1.52; 3.6.1.60; DIPP-3-alpha; DIPP3-alpha; Diadenosine 5',5'''-P1,P6-hexaphosphate hydrolase 3-alpha; Diadenosine hexaphosphate hydrolase (AMP-forming); Nucleoside diphosphate-linked moiety X motif 10; Nudix motif 10; hAps2; hDIPP3alpha", "protein_names_refseq": "diadenosine 5',5'''-P1,P6-hexaphosphate hydrolase 3-alpha; diadenosine hexaphosphate hydrolase (AMP-forming); diphosphoinositol polyphosphate phosphohydrolase 3-alpha; nucleoside diphosphate-linked moiety X motif 10; nudix (nucleoside diphosphate linked moiety X)-type motif 10; nudix motif 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:170685); (R-HSA-1855167)", "pathway_count": 2, "publication_count": 34, "publication_id_list": "10419486;10585413;10777568;10827188;11042108;11502751;11909533;12084730;12105228;12121577;12370170;17412958;17690096;17702752;17705785;18355727;18981179;19413330;20564319;21071540;22119861;27600516;27846572;27920218;28832583;28834231;29242379;31844290;32157095;33968037;34696672;35580925;36010968;9822604", "class_list": "", "function": "Cleaves a beta-phosphate from the diphosphate groups in PP-InsP5 (diphosphoinositol pentakisphosphate), suggesting that it may play a role in signal transduction. Also able to catalyze the hydrolysis of dinucleoside oligophosphates, with Ap6A and Ap5A being the preferred substrates. The major reaction products are ADP and p4a from Ap6A and ADP and ATP from Ap5A. Also able to hydrolyze 5-phosphoribose 1-diphosphate., [UniProtKB, PubMed]; Clinical correlations and prognostic value of Nudix hydroxylase 10 in patients with gastric cancer., [RefSeq, PubMed]; Cloning and characterisation of NUDT10 as a diadenosine polyphosphate-metabolising Nudix hydrolase. Publication Status: Online-Only, [RefSeq, PubMed]; Meta-analysis of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The NUDT10 gene, located on chromosome X, is preferentially expressed in the testis, [RefSeq, PubMed]; This gene is a member of the nudix (nucleoside diphosphate linked moiety X)-type motif containing family. The encoded protein is a phosphohydrolase and may regulate the turnover of diphosphoinositol polyphosphates. The turnover of these high-energy diphosphoinositol polyphosphates represents a molecular switching activity with important regulatory consequences. Molecular switching by diphosphoinositol polyphosphates may contribute to the regulation of intracellular trafficking. In some populations putative prostate cancer susceptibility alleles have been identified for this gene. Alternatively spliced transcript variants, which differ only in the 5' UTR, have been found for this gene. [provided by RefSeq, Feb 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": 6, "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": "A8K7D7;D3DX69;Q86VK1;Q86VR0", "ec_number_list": [ { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.1.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.1", "type": "external" }, { "id": "3.6.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.9", "type": "external" }, { "id": "3.6.1.59", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.59", "type": "external" }, { "id": "3.6.1.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.52", "type": "external" }, { "id": "3.6.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.62", "type": "external" }, { "id": "3.6.1.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.10", "type": "external" }, { "id": "3.6.1.61", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.61", "type": "external" }, { "id": "3.6.1.60", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.60", "type": "external" } ], "go_molecular_function": "GO:0000298 endopolyphosphatase activity;GO:0008486 diphosphoinositol-polyphosphate diphosphatase activity;GO:0034431 bis(5'-adenosyl)-hexaphosphatase activity;GO:0034432 bis(5'-adenosyl)-pentaphosphatase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0071543 diphosphoinositol polyphosphate metabolic process;GO:1901907 diadenosine pentaphosphate catabolic process;GO:1901909 diadenosine hexaphosphate catabolic process;GO:1901911 adenosine 5'-(hexahydrogen pentaphosphate) catabolic process", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q8NFP7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5K3-1", "uniprot_id": [ { "id": "PCY1B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5K3", "type": "external" } ], "mass": 41940.0, "length": 369, "protein_name": "Choline-phosphate cytidylyltransferase B", "gene_name": "PCYT1B", "organism": "Human", "refseq_name": "choline-phosphate cytidylyltransferase B isoform 2", "refseq_ac": [ { "id": "NP_001156736", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001156736", "type": "external" } ], "gene_names_uniprotkb": "PCYT1B; CCTB", "gene_names_refseq": "CCTB; CTB; PCYT1B", "protein_names_uniprotkb": "Choline-phosphate cytidylyltransferase B; 2.7.7.15; CCT B; CCT-beta; CT B; CTP:phosphocholine cytidylyltransferase B; Phosphorylcholine transferase B", "protein_names_refseq": "CCT B; CCT-beta; CT B; CTP:phosphocholine cytidylyltransferase b; CTP:phosphocholine cytidylyltransferase-beta; choline-phosphate cytidylyltransferase B isoform 2; choline-phosphate cytidylyltransferase B; choline-phosphate cytidylyltransferase beta; phosphate cytidylyltransferase 1, choline, beta; phosphorylcholine transferase B; phosphorylcholine transferase beta", "tax_id": 9606, "disease": "", "pathway": " (hsa:9468); (R-HSA-1483191)", "pathway_count": 2, "publication_count": 59, "publication_id_list": "10100195;10191259;10480912;10677542;10893425;11068039;11237011;11420179;11698453;12055623;12216837;12221122;14973250;15175005;15345747;15715662;15911624;17007874;17158099;17322306;17561512;18452278;18669648;18691976;18694939;19664994;19664995;19915674;20068231;20338778;21406692;21926997;23328280;23901139;24715725;24732803;24828044;25452470;25576301;25802875;26005868;26048993;26165797;26945070;27600516;28218747;28228285;28514659;28821867;28904123;29557506;29786170;30315122;30410026;3057511;31154438;31964590;32186954;9593753", "class_list": "", "function": "CCT contributes to phospholipid compositional homeostasis. [Review] Review article, [RefSeq, PubMed]; Catalyzes the key rate-limiting step in the CDP-choline pathway for phosphatidylcholine biosynthesis., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Differential dephosphorylation of CTP:phosphocholine cytidylyltransferase upon translocation to nuclear membranes and lipid droplets., [RefSeq, PubMed]; Genetic Polymorphisms of LPCAT1, CHPT1 and PCYT1B and Risk of Neonatal Respiratory Distress Syndrome among a Chinese Han Population., [RefSeq, PubMed]; PCYT1B, a placental-specific enzyme post-translationally modifying neurokinin B, is essential for the pathogenic role of CRP in preeclampsia through activation of the neurokinin 3 receptor., [RefSeq, PubMed]; The protein encoded by this gene belongs to the cytidylyltransferase family. It is involved in the regulation of phosphatidylcholine biosynthesis. Several alternatively spliced 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": 17, "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": "A8IX00;B2RCX8;B4DK10;E9PD84;O60621;Q86XC9", "ec_number_list": [ { "id": "2.7.7.15", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.15", "type": "external" } ], "go_molecular_function": "GO:0004105 choline-phosphate cytidylyltransferase activity;GO:0031210 phosphatidylcholine binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006657 CDP-choline pathway;GO:0006656 phosphatidylcholine biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q9Y5K3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13332-1", "uniprot_id": [ { "id": "PTPRS_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13332", "type": "external" } ], "mass": 217041.0, "length": 1948, "protein_name": "Receptor-type tyrosine-protein phosphatase S", "gene_name": "PTPRS", "organism": "Human", "refseq_name": "receptor-type tyrosine-protein phosphatase S isoform 1 precursor", "refseq_ac": [ { "id": "NP_002841", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002841", "type": "external" } ], "gene_names_uniprotkb": "PTPRS", "gene_names_refseq": "PTP-sigma; PTPRS; PTPSIGMA; R-PTP-S; R-PTP-sigma", "protein_names_uniprotkb": "Receptor-type tyrosine-protein phosphatase S; 3.1.3.48; R-PTP-S; R-PTP-sigma; Receptor-type tyrosine-protein phosphatase sigma", "protein_names_refseq": "protein tyrosine phosphatase PTPsigma; receptor-type tyrosine-protein phosphatase S isoform 1 precursor; receptor-type tyrosine-protein phosphatase sigma", "tax_id": 9606, "disease": "azoospermia (Disease Ontology:DOID:14227)", "pathway": " (hsa:5802); (R-HSA-3000178); (R-HSA-388844); (R-HSA-8849932); (R-HSA-9034015)", "pathway_count": 5, "publication_count": 129, "publication_id_list": "10.1101/2023.09.13.557529;10022829;10339611;10673326;11084047;11237011;11259413;12225811;1370651;1376317;14715956;15075323;15296743;1544908;15750591;16293224;16335952;16493581;16495444;16630835;16959974;17588949;18058037;18227064;19159218;19252495;19349973;19681166;20068231;20139422;2059554;20600927;21262467;21454754;21642437;21789315;21940441;22134916;22286174;22357843;23090970;23345436;2364322;23820885;2412224;24190977;2420006;2430969;25385546;25502872;25576301;25908590;26231120;26321637;28228285;28467828;28832583;28871256;28904123;29093164;29242379;29314611;29393594;29557506;29632046;29632711;29786170;30315122;30429286;30573663;30779550;30833945;31154438;31530632;31611695;31844290;32157095;32161166;32350084;32387766;32502341;32938616;32983136;33298915;33592498;33912179;33936100;33968037;33981976;34078123;34087483;34171305;34357683;34932366;35051231;35154160;35251023;35561310;35991009;36010968;36215666;37074911;38926456;39094827;6193777;6439184;7499434;7527058;7542669;7559467;7569905;7685013;7693733;7796809;7852349;8002934;8440685;8524829;8601796;8798654;8943283;8992885;9252349;9294172;9341124;9346959;9624153;9685393;9949188", "class_list": "", "function": "Cell surface receptor that binds to glycosaminoglycans, including chondroitin sulfate proteoglycans and heparan sulfate proteoglycan (PubMed:21454754). Binding to chondroitin sulfate and heparan sulfate proteoglycans has opposite effects on PTPRS oligomerization and regulation of neurite outgrowth. Contributes to the inhibition of neurite and axonal outgrowth by chondroitin sulfate proteoglycans, also after nerve transection. Plays a role in stimulating neurite outgrowth in response to the heparan sulfate proteoglycan GPC2. Required for normal brain development, especially for normal development of the pituitary gland and the olfactory bulb. Functions as a tyrosine phosphatase (PubMed:8524829). Mediates dephosphorylation of NTRK1, NTRK2 and NTRK3 (By similarity). Plays a role in down-regulation of signaling cascades that lead to the activation of Akt and MAP kinases (By similarity). Down-regulates TLR9-mediated activation of NF-kappa-B, as well as production of TNF, interferon alpha and interferon beta (PubMed:26231120)., [UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; High expression of protein tyrosine phosphatase receptor S (PTPRS) is an independent prognostic marker for cholangiocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; PTPRS is a novel marker for early Tau pathology and synaptic integrity in Alzheimer's disease. Publication Status: Online-Only, [RefSeq, PubMed]; Reduced PTPRS expression promotes epithelial-mesenchymal transition of Schwann cells in NF1-related plexiform neurofibromas., [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 contains an extracellular region, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this protein is composed of multiple Ig-like and fibronectin type III-like domains. Studies of the similar gene in mice suggested that this PTP may be involved in cell-cell interaction, primary axonogenesis, and axon guidance during embryogenesis. This PTP has been also implicated in the molecular control of adult nerve repair. Four alternatively spliced transcript variants, which encode distinct proteins, 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": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 118, "reported_interactions": 0, "missing_score": 9507, "biomarker_type": "", "glycan_count": 15, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "O75255;O75870;Q15718;Q16341;Q2M3R7", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.21", "type": "external" }, { "id": "3.1.3.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.18", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.5", "type": "external" }, { "id": "3.1.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" } ], "go_molecular_function": "GO:0008201 heparin binding;GO:0043395 heparan sulfate proteoglycan binding;GO:0035374 chondroitin sulfate binding;GO:0004721 phosphoprotein phosphatase activity;GO:0004725 protein tyrosine phosphatase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0030424 axon;GO:0030426 growth cone;GO:0043204 perikaryon", "go_biological_process": "GO:0035335 peptidyl-tyrosine dephosphorylation;GO:0007165 signal transduction;GO:0010977 negative regulation of neuron projection development;GO:0006470 protein dephosphorylation;GO:0050804 modulation of chemical synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 14.9, "record_id": "Q13332-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q08257-1", "uniprot_id": [ { "id": "QOR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q08257", "type": "external" } ], "mass": 35207.0, "length": 329, "protein_name": "Zeta-crystallin", "gene_name": "CRYZ", "organism": "Human", "refseq_name": "zeta-crystallin isoform a", "refseq_ac": [ { "id": "NP_001123514", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123514", "type": "external" } ], "gene_names_uniprotkb": "CRYZ", "gene_names_refseq": "CRYZ", "protein_names_uniprotkb": "Zeta-crystallin; 1.6.5.5; NADPH:quinone reductase; Quinone oxidoreductase", "protein_names_refseq": "NADPH:quinone reductase; crystallin, zeta (quinone reductase); epididymis secretory sperm binding protein; quinone oxidoreductase; zeta-crystallin isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:1429)", "pathway_count": 1, "publication_count": 76, "publication_id_list": "11237011;11295131;17497241;19608861;20068231;20103721;21406692;22544926;22898188;23481700;24715725;25502872;25576301;25645385;26154972;26375851;26758079;27090790;27600516;27726376;27846572;27862975;27920218;28228285;28510447;28514659;28832583;28904123;29242379;29508533;29557506;29632046;29786170;30315122;30429286;30524438;30833945;31020640;31154438;31217245;31530632;31563996;31844290;31998317;32157095;32161166;32350084;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33717175;33912179;33968037;34087483;34171305;34211107;34405274;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37938771;38665916;8088825;8466529", "class_list": "", "function": "Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. The former class is also called phylogenetically-restricted crystallins. This gene encodes a taxon-specific crystallin protein which has NADPH-dependent quinone reductase activity distinct from other known quinone reductases. It lacks alcohol dehydrogenase activity although by similarity it is considered a member of the zinc-containing alcohol dehydrogenase family. Unlike other mammalian species, in humans, lens expression is low. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. One pseudogene is known to exist. [provided by RefSeq, Sep 2008]., [RefSeq]; Multifunctional crystallin endowed with unrelated mRNA stabilization and enzymatic oxidoreductase activities (PubMed:17497241, PubMed:20103721). Binds (AU)-rich elements (ARE) in the 3'-UTR of target mRNA to enhance their stability (PubMed:17497241, PubMed:20103721). Upon metabolic acidosis, stabilizes the mRNA encoding SLC12A1 a cotransporter involved in transepithelial NH4(+) reabsorption in the medullary thick ascending limb in kidney (By similarity). In response to acidosis, also participates to the adaptive increase in renal ammoniagenesis by stabilizing the mRNAs of enzymes involved in glutamine catabolism (By similarity). By the same mechanism, it also regulates the expression of the antiapoptotic protein BCL2 (PubMed:20103721). Beside its mRNA stabilization activity, also catalyzes the reduction of orthoquinones such as 1,2-naphthoquinone or 9,10-phenanthrenequinone in the presence of NADPH in vitro and could be involved in the detoxification of xenobiotics and protection against oxidative stress (PubMed:17497241)., [UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Zeta-crystallin is a moonlighting protein endowed with two main different functions: (1) mRNA binding with stabilizing activity; (2) NADPH:quinone oxidoreductase. Zeta-crystallin has been clearly demonstrated to stabilize mRNAs encoding proteins involved in renal glutamine catabolism during metabolic acidosis resulting in ammoniagenesis and bicarbonate ion production that concur to compensate such condition. [review] Review article, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NN60;D3DQ76;Q53FT0;Q59EU7;Q5HYE7;Q6NSK9", "ec_number_list": [ { "id": "1.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.5", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0003960 quinone reductase (NADPH) activity;GO:0003730 mRNA 3'-UTR binding;GO:0070402 NADPH binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0048255 mRNA stabilization;GO:0051289 protein homotetramerization;GO:0007601 visual perception;GO:0042178 xenobiotic catabolic process", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q08257-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14807-1", "uniprot_id": [ { "id": "RASM_HUMAN", "url": "https://www.uniprot.org/uniprot/O14807", "type": "external" } ], "mass": 23846.0, "length": 208, "protein_name": "Ras-related protein M-Ras", "gene_name": "MRAS", "organism": "Human", "refseq_name": "ras-related protein M-Ras isoform 1 precursor", "refseq_ac": [ { "id": "NP_001078518", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078518", "type": "external" } ], "gene_names_uniprotkb": "MRAS; RRAS3", "gene_names_refseq": "M-RAs; MRAS; NS11; R-RAS3; RRAS3", "protein_names_uniprotkb": "Ras-related protein M-Ras; 3.6.5.2; Ras-related protein R-Ras3", "protein_names_refseq": "muscle and microspikes RAS; ras-related protein M-Ras isoform 1 precursor; ras-related protein M-Ras; ras-related protein R-Ras3", "tax_id": 9606, "disease": "Noonan syndrome 11 (Disease Ontology:DOID:0112169)", "pathway": " (hsa:22808); (R-HSA-5673000); (R-HSA-9726840); (R-HSA-9726842)", "pathway_count": 4, "publication_count": 99, "publication_id_list": "10205168;10477695;10712905;10891492;11032810;11237011;11325826;11494123;11741534;11756411;12244094;12551923;12932319;12932339;14530258;15035987;15258589;15467451;15710605;15711535;15899852;16041367;16093354;16294014;16364920;16508002;16537381;16630891;17097642;18294816;18662992;18991276;19049963;19158341;19541618;19684605;19727074;19933846;20674547;20820846;21441104;21441910;21779496;22592532;23360980;23481700;23863182;23906342;23993095;24121489;24211266;24347342;24937142;25137548;25907612;25965804;26343583;27264673;27466182;27999210;28082416;28289718;28666118;28984291;29461827;29557506;30348783;30379171;30429286;31059601;31108500;31173466;32938616;32983136;33592498;35051231;35580925;35768504;35830882;35831509;36175670;37277529;39196705;39809765;40934300;7542586;7744815;8521512;8521513;8521514;8637718;8876196;8946910;9020159;9234708;9400994;9689060;9823899;9858547", "class_list": "", "function": "Crystal structure of the GDP-bound human M-RAS protein in two crystal forms., [RefSeq, PubMed]; Scribble mis-localization induces adaptive resistance to KRAS G12C inhibitors through feedback activation of MAPK signaling mediated by YAP-induced MRAS., [RefSeq, PubMed]; Signal transducer in the Ras-MAPK signaling pathway that regulates cell proliferation and survival (PubMed:16630891, PubMed:28289718, PubMed:35768504, PubMed:35830882, PubMed:35831509, PubMed:36175670). Core component of the SHOC2-MRAS-PP1c (SMP) holophosphatase complex that regulates the MAPK pathway activation (PubMed:16630891, PubMed:35768504, PubMed:35830882, PubMed:35831509, PubMed:36175670). The formation of the SMP complex only occurs when MRAS is GTP-bound (PubMed:35768504, PubMed:35830882, PubMed:35831509, PubMed:36175670, PubMed:39809765). Unlike other Ras proteins, MRAS has low intrinsic GTPase activity and may require additional factors for activation (PubMed:39809765). The SMP complex specifically dephosphorylates the inhibitory phosphorylation at 'Ser-259' of RAF1 kinase, 'Ser-365' of BRAF kinase and 'Ser-214' of ARAF kinase, stimulating their kinase activities (PubMed:16630891, PubMed:35768504, PubMed:35830882, PubMed:35831509, PubMed:36175670). Recognized by LZTR1 that mediates its ubiquitination by a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex (PubMed:40934300)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Structure of the SHOC2-MRAS-PP1C complex provides insights into RAF activation and Noonan syndrome., [RefSeq, PubMed]; This gene encodes a member of the Ras family of small GTPases. These membrane-associated proteins function as signal transducers in multiple processes including cell growth and differentiation, and dysregulation of Ras signaling has been associated with many types of cancer. The encoded protein may play a role in the tumor necrosis factor-alpha and MAP kinase signaling pathways. Alternatively spliced transcript variants 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": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DIK0;Q86WX8", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0030742 GTP-dependent protein binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0000164 protein phosphatase type 1 complex;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0046579 positive regulation of Ras protein signal transduction;GO:0030036 actin cytoskeleton organization;GO:0007265 Ras protein signal transduction;GO:0007163 establishment or maintenance of cell polarity;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 10.2, "record_id": "O14807-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86SG6-1", "uniprot_id": [ { "id": "NEK8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86SG6", "type": "external" } ], "mass": 74806.0, "length": 692, "protein_name": "Serine/threonine-protein kinase Nek8", "gene_name": "NEK8", "organism": "Human", "refseq_name": "serine/threonine-protein kinase Nek8", "refseq_ac": [ { "id": "NP_835464", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_835464", "type": "external" } ], "gene_names_uniprotkb": "NEK8; JCK; NEK12A", "gene_names_refseq": "JCK; NEK12A; NEK8; NPHP9; PKD8; RHPD2", "protein_names_uniprotkb": "Serine/threonine-protein kinase Nek8; 2.7.11.1; Never in mitosis A-related kinase 8; NimA-related protein kinase 8; Nima-related protein kinase 12a", "protein_names_refseq": "NIMA (never in mitosis gene a)- related kinase 8; NIMA-family kinase NEK8; NIMA-related kinase 12a; nephrocystin 9; never in mitosis A-related kinase 8; nimA-related protein kinase 8; nima-related protein kinase 12a; serine/threonine-protein kinase Nek8; serine/thrionine-protein kinase NEK8", "tax_id": 9606, "disease": "polycystic kidney disease 8 (Disease Ontology:DOID:0051081); renal-hepatic-pancreatic dysplasia (Disease Ontology:DOID:0060259); amyotrophic lateral sclerosis type 24 (Disease Ontology:DOID:0081378); autosomal recessive polycystic kidney disease (Disease Ontology:DOID:0110861); nephronophthisis 9 (Disease Ontology:DOID:0111120)", "pathway": " (hsa:284086)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "11237011;11864968;15019993;15872312;18199800;18491316;22106379;23418306;23793029;26188091;26967905;26992070;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29508533;29557506;29632711;31530632;31844290;32387766;32502341;32897882;32938616;32983136;33141586;33298915;34087483;34509645;34932366;35051231;35580925;36215968;37596667;37598857", "class_list": "", "function": "Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease., [RefSeq, PubMed]; Characterization of the proteome in mice that have a double point mutation in the related gene., [RefSeq, PubMed]; Data demonstrate for the first time that Nek8 is a novel tumor associated gene, and shares considerable sequence homology with the Nek family of protein kinases and may be involved in G(2)/M progression., [RefSeq, PubMed]; NEK8 regulates colorectal cancer progression via phosphorylating MYC. Publication Status: Online-Only, [RefSeq, PubMed]; Required for renal tubular integrity. May regulate local cytoskeletal structure in kidney tubule epithelial cells. May regulate ciliary biogenesis through targeting of proteins to the cilia (PubMed:37598857). Plays a role in organogenesis, and is involved in the regulation of the Hippo signaling pathway (PubMed:26967905)., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a member of the serine/threionine protein kinase family related to NIMA (never in mitosis, gene A) of Aspergillus nidulans. The encoded protein may play a role in cell cycle progression from G2 to M phase. Mutations in the related mouse gene are associated with a disease phenotype that closely parallels the juvenile autosomal recessive form of polycystic kidney disease in humans. [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": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NIC5;Q14CL7;Q2M1S6;Q8NDH1", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0106310 protein serine kinase activity;GO:0004672 protein kinase activity", "go_cellular_component": "GO:0005813 centrosome;GO:0005929 cilium;GO:0005930 axoneme;GO:0097546 ciliary base;GO:0097543 ciliary inversin compartment", "go_biological_process": "GO:0035330 regulation of hippo signaling;GO:0007507 heart development;GO:0009887 animal organ morphogenesis;GO:0007368 determination of left/right symmetry", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q86SG6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95447-1", "uniprot_id": [ { "id": "LCA5L_HUMAN", "url": "https://www.uniprot.org/uniprot/O95447", "type": "external" } ], "mass": 76505.0, "length": 670, "protein_name": "Lebercilin-like protein", "gene_name": "LCA5L", "organism": "Human", "refseq_name": "lebercilin-like protein isoform a", "refseq_ac": [ { "id": "NP_689718", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689718", "type": "external" } ], "gene_names_uniprotkb": "LCA5L; C21orf13", "gene_names_refseq": "C21orf13; LCA5L", "protein_names_uniprotkb": "Lebercilin-like protein; Leber congenital amaurosis 5-like protein", "protein_names_refseq": "LCA5L, lebercilin like; leber congenital amaurosis 5-like protein; lebercilin-like protein isoform a; lebercilin-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:150082)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;27100087;29557506;30379171;33912179", "class_list": "", "function": "RNA-seq evidence of biallelic expression of LCA5L and 10 neighboring genes in at least one primary human tissue tested indicates that the expression of LCA5L 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "D3DSI0;Q3ZCT0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005930 axoneme", "go_biological_process": "GO:0042073 intraciliary transport", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "O95447-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HCR9-1", "uniprot_id": [ { "id": "PDE11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HCR9", "type": "external" } ], "mass": 104752.0, "length": 933, "protein_name": "Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A", "gene_name": "PDE11A", "organism": "Human", "refseq_name": "dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A isoform 1", "refseq_ac": [ { "id": "NP_001070664", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070664", "type": "external" } ], "gene_names_uniprotkb": "PDE11A", "gene_names_refseq": "PDE11A; PPNAD2", "protein_names_uniprotkb": "Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A; 3.1.4.35; 3.1.4.53; cAMP and cGMP phosphodiesterase 11A", "protein_names_refseq": "cAMP and cGMP cyclic nucleotide phosphodiesterase 11A; dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A isoform 1; dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A", "tax_id": 9606, "disease": "primary pigmented nodular adrenocortical disease 2 (Disease Ontology:DOID:0070547)", "pathway": " (hsa:50940); (R-HSA-418457); (R-HSA-418555)", "pathway_count": 3, "publication_count": 75, "publication_id_list": "10725373;10906126;11007482;11050148;11121118;11237011;12036966;12058044;12106601;12180353;12860470;13549488;14671004;1517224;15765929;15769620;15800651;15951850;16079899;16313925;16330539;16687412;16767104;16923326;16990611;17168849;18044684;18577758;19105585;19690332;19876791;19929708;20381629;21036126;2163110;23481700;2417744;24687066;2491850;2553411;2553705;26417854;26459559;26820475;2871555;28832583;29443750;29602314;30833991;3127824;31279028;31399091;31844290;31983287;32226383;32497535;32540603;32618402;32715661;33049737;33661511;33835157;33981976;34171305;35051231;36215666;38253038;6085243;8340388;8514797;8557689;8672451;9263355;9417641;9651336", "class_list": "", "function": "Exome sequencing revealed PDE11A as a novel candidate gene for early-onset Alzheimer's disease., [RefSeq, PubMed]; One percent of the Swedish population carries a PDE11A loss-of-function mutation which is associated with elevated BP, abdominal obesity, and risk of ischemic stroke., [RefSeq, PubMed]; PDE11A gene polymorphism in testicular cancer: sperm parameters and hormonal profile., [RefSeq, PubMed]; Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides cAMP and cGMP (PubMed:10725373, PubMed:10906126, PubMed:11050148, PubMed:16330539). Catalyzes the hydrolysis of both cAMP and cGMP to 5'-AMP and 5'-GMP, respectively (PubMed:10725373, PubMed:10906126, PubMed:11050148)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Testicular germ cell tumors had 55 PDE11A variants: 20 missense (10 new, 9 in transcript variant 4, 1 in transcript variant 3), 4 splice-site, 2 nonsense, 7 synonymous, and 22 intronic. p.F258Y, p.G291R, p.V820M, p.R545X, and p.K568R were only in cases., [RefSeq, PubMed]; The 3',5'-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3',5'-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5'-monophosphates and provide a mechanism to downregulate cAMP and cGMP signaling. This gene encodes a member of the PDE protein superfamily. Mutations in this gene are a cause of Cushing disease and adrenocortical hyperplasia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 28, "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": "Q14CD1;Q53T16;Q96S76;Q9GZY7;Q9HB46;Q9NY45", "ec_number_list": [ { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.1.4.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.17", "type": "external" }, { "id": "3.1.4.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.53", "type": "external" }, { "id": "3.1.4.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.35", "type": "external" }, { "id": "3.1.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.1", "type": "external" }, { "id": "3.6.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.9", "type": "external" }, { "id": "3.6.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.25", "type": "external" }, { "id": "3.6.1.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.14", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0030553 cGMP binding;GO:0047555 3',5'-cyclic-GMP phosphodiesterase activity;GO:0004114 3',5'-cyclic-nucleotide phosphodiesterase activity;GO:0004112 cyclic-nucleotide phosphodiesterase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0007165 signal transduction;GO:0010754 negative regulation of cGMP-mediated signaling;GO:0141162 negative regulation of cAMP/PKA signal transduction", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q9HCR9-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01127-1", "uniprot_id": [ { "id": "PDGFB_HUMAN", "url": "https://www.uniprot.org/uniprot/P01127", "type": "external" } ], "mass": 27283.0, "length": 241, "protein_name": "Platelet-derived growth factor subunit B", "gene_name": "PDGFB", "organism": "Human", "refseq_name": "platelet-derived growth factor subunit B isoform 1 preproprotein", "refseq_ac": [ { "id": "NP_002599", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002599", "type": "external" } ], "gene_names_uniprotkb": "PDGFB; PDGF2; SIS", "gene_names_refseq": "IBGC5; PDGF-2; PDGF2; PDGFB; SIS; SSV; c-sis", "protein_names_uniprotkb": "Platelet-derived growth factor subunit B; PDGF subunit B; PDGF-2; Platelet-derived growth factor B chain; Platelet-derived growth factor beta polypeptide; Proto-oncogene c-Sis", "protein_names_refseq": "PDGF subunit B; PDGF, B chain; becaplermin; epididymis secretory sperm binding protein; platelet-derived growth factor 2; platelet-derived growth factor B chain; platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog); platelet-derived growth factor subunit B isoform 1 preproprotein; platelet-derived growth factor, beta polypeptide (oncogene SIS); proto-oncogene c-Sis", "tax_id": 9606, "disease": "sinusitis (Disease Ontology:DOID:0050127); inflammatory bowel disease (Disease Ontology:DOID:0050589); basal ganglia calcification (Disease Ontology:DOID:0060230); COVID-19 (Disease Ontology:DOID:0080600); graft-versus-host disease (Disease Ontology:DOID:0081267); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); Kuhnt-Junius degeneration (Disease Ontology:DOID:10873); prostatic hypertrophy (Disease Ontology:DOID:11132); oligohydramnios (Disease Ontology:DOID:12215); leiomyoma (Disease Ontology:DOID:127); proliferative diabetic retinopathy (Disease Ontology:DOID:13207); background diabetic retinopathy (Disease Ontology:DOID:13208); cholestasis (Disease Ontology:DOID:13580); Leydig cell tumor (Disease Ontology:DOID:2696); asthma (Disease Ontology:DOID:2841); glomerulonephritis (Disease Ontology:DOID:2921); glioblastoma (Disease Ontology:DOID:3068); high grade glioma (Disease Ontology:DOID:3070); dermatofibrosarcoma protuberans (Disease Ontology:DOID:3507); choriocarcinoma (Disease Ontology:DOID:3594); clear cell renal cell carcinoma (Disease Ontology:DOID:4467); familial meningioma (Disease Ontology:DOID:4586); pancreatitis (Disease Ontology:DOID:4989); liver cirrhosis (Disease Ontology:DOID:5082); ureteral obstruction (Disease Ontology:DOID:5199); pulmonary hypertension (Disease Ontology:DOID:6432); rheumatoid arthritis (Disease Ontology:DOID:7148)", "pathway": " (hsa:5155); (R-HSA-114608); (R-HSA-1257604); (R-HSA-186763); (R-HSA-186797); (R-HSA-2219530); (R-HSA-3000171); (R-HSA-5673001); (R-HSA-6811558)", "pathway_count": 9, "publication_count": 215, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10191262;10508167;10508235;10579907;10869344;11027663;11090077;11136978;11147812;11237011;11313946;11331882;11546808;11702783;11803464;11847221;12032311;12094235;12121613;12167717;12369853;12538485;12660034;12767043;1311092;1314164;1317862;1325671;1374684;1375321;1396585;1396586;1435334;14506247;14630798;14707138;15053742;15207811;15297306;15356145;1545823;15546878;15615512;15718470;15767546;15834429;16331269;16339315;16393139;1639841;16436588;16456541;16474853;1661670;16627759;16647110;16684964;16806867;1716764;17200115;17367763;17604334;17626883;17943726;17998941;18079394;18317450;18477386;18483217;18559524;18594509;18606717;18754654;18755892;18775330;18829560;18925875;1898771;19185485;19279408;19411071;19564526;19576174;19644473;19805105;19920141;19962665;20231295;20338997;20478380;20522708;20534510;20713702;20813817;21102635;21188471;21251937;21317208;21368164;21372320;21376233;21478295;21668414;21779497;21779505;21827948;21976531;21984976;21993244;22120714;22188813;22569528;22588880;22589270;22750304;22802530;22933705;23090970;23103841;23303910;23345538;23443682;23575685;23583652;23584533;23640497;23913003;24190977;2466336;2472219;24897931;24937142;25219551;25328409;25597754;25781681;25813380;26085527;26599395;28228285;28435517;28778966;28832583;29093181;29137923;29242379;29263244;29314611;29391424;29408302;2991848;29964125;30389923;30429286;31085175;31135801;31154438;31844290;32157095;34530889;3456904;3472769;3517869;38070064;38156729;38175715;4033772;6148751;6306471;6327048;6329745;6457647;6740330;6844921;7637810;7659502;7685273;7691811;7692233;7744773;7809086;7935391;7935463;7972015;8052307;8388543;8394845;8443409;8467233;8493579;8645157;8647855;8657148;8657151;8665852;8710374;8900172;8939933;8940081;8980650;8988177;9334164;9484840;9488729;9546424;9604935;9659899;9659900;9736715;9739761;9895304;9927426", "class_list": "", "function": "Growth factor that plays an essential role in the regulation of embryonic development, cell proliferation, cell migration, survival and chemotaxis. Potent mitogen for cells of mesenchymal origin (PubMed:26599395). Required for normal proliferation and recruitment of pericytes and vascular smooth muscle cells in the central nervous system, skin, lung, heart and placenta. Required for normal blood vessel development, and for normal development of kidney glomeruli. Plays an important role in wound healing. Signaling is modulated by the formation of heterodimers with PDGFA (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Platelet-derived growth factor subunit-B mediating the effect of dickkopf-1 on acute myocardial infarction risk: a two-step Mendelian randomization study., [RefSeq, PubMed]; Role of endothelial PDGFB in arterio-venous malformations pathogenesis., [RefSeq, PubMed]; Small vessel disease in primary familial brain calcification with novel truncating PDGFB variants., [RefSeq, PubMed]; This gene encodes a member of the protein family comprised of both platelet-derived growth factors (PDGF) and vascular endothelial growth factors (VEGF). The encoded preproprotein is proteolytically processed to generate platelet-derived growth factor subunit B, which can homodimerize, or alternatively, heterodimerize with the related platelet-derived growth factor subunit A. These proteins bind and activate PDGF receptor tyrosine kinases, which play a role in a wide range of developmental processes. Mutations in this gene are associated with meningioma. Reciprocal translocations between chromosomes 22 and 17, at sites where this gene and that for collagen type 1, alpha 1 are located, are associated with dermatofibrosarcoma protuberans, a rare skin tumor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]., [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": 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": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 28, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "G3XAG8;P78431;Q15354;Q6FHE7;Q9UF23", "ec_number_list": [], "go_molecular_function": "GO:0005161 platelet-derived growth factor receptor binding;GO:0042056 chemoattractant activity;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005788 endoplasmic reticulum lumen", "go_biological_process": "GO:0072126 positive regulation of glomerular mesangial cell proliferation;GO:0014805 smooth muscle adaptation;GO:1905064 negative regulation of vascular associated smooth muscle cell differentiation;GO:0001525 angiogenesis;GO:0006468 protein phosphorylation", "synthesized_glycan_count": 0, "hit_score": 22.5, "record_id": "P01127-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100100000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y4C2-1", "uniprot_id": [ { "id": "TCAF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y4C2", "type": "external" } ], "mass": 102126.0, "length": 921, "protein_name": "TRPM8 channel-associated factor 1", "gene_name": "TCAF1", "organism": "Human", "refseq_name": "TRPM8 channel-associated factor 1 isoform 3", "refseq_ac": [ { "id": "NP_001193870", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193870", "type": "external" } ], "gene_names_uniprotkb": "TCAF1; FAM115A; KIAA0738", "gene_names_refseq": "FAM115A; GATD9A; TCAF1", "protein_names_uniprotkb": "TRPM8 channel-associated factor 1; TRP channel-associated factor 1", "protein_names_refseq": "TRP channel-associated factor 1; TRPM8 channel-associated factor 1 isoform 3; family with sequence similarity 115, member A; protein FAM115A", "tax_id": 9606, "disease": "", "pathway": " (hsa:9747)", "pathway_count": 1, "publication_count": 93, "publication_id_list": "11237011;17074750;20112406;22299025;22424782;22544926;22898188;23481700;24715725;25418920;25505266;25559186;25576301;25645385;26154972;26375851;26768311;26811146;26992070;27397612;27600516;27846572;27862975;27920218;28063628;28228285;28514659;28832583;28834231;28860189;28904123;29242379;29331515;29393594;29493099;29557506;29632046;29786170;30315122;30429286;30524438;30779550;30833945;31092671;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34357683;34405274;34433829;34509645;34561969;35051231;35318648;35580925;36010968;36215666;36241641;36284347;37938771;38665916;38816425", "class_list": "", "function": "Evidence for opposing selective forces operating on human-specific duplicated TCAF genes in Neanderthals and humans. Publication Status: Online-Only, [RefSeq, PubMed]; Positively regulates the plasma membrane cation channel TRPM8 activity. Involved in the recruitment of TRPM8 to the cell surface. Promotes prostate cancer cell migration inhibition in a TRPM8-dependent manner., [UniProtKB, PubMed]; Report novel TRP channel-associated factors that modulate TRPM8 activity. GeneRIF: TCAF1 binds to and promotes trafficking of the TRPM8 cold sensor channel to the cell surface, it contains a PI3K homology domain in its C-terminal tail that modifies TRPM8 gating properties and seems to facilitate channel opening, as assessed by menthol-induced response. Overexpression leads to a reduction in both the speed and directionality of migration of prostate cancer cells., [RefSeq, PubMed]; TCAF1 promotes TRPV2-mediated Ca[2+] release in response to cytosolic DNA to protect stressed replication forks. 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": 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": "A8K6E0;Q75KM8;Q75KM9;Q7L665;Q9BW63", "ec_number_list": [], "go_molecular_function": "GO:0044325 transmembrane transporter binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0030336 negative regulation of cell migration;GO:0090314 positive regulation of protein targeting to membrane;GO:1901529 positive regulation of anion channel activity", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "Q9Y4C2-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15119-1", "uniprot_id": [ { "id": "PDK2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15119", "type": "external" } ], "mass": 46154.0, "length": 407, "protein_name": "[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 2, mitochondrial", "gene_name": "PDK2", "organism": "Human", "refseq_name": "pyruvate dehydrogenase kinase, isozyme 2 isoform 2", "refseq_ac": [ { "id": "NP_001186827", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186827", "type": "external" } ], "gene_names_uniprotkb": "PDK2; PDHK2", "gene_names_refseq": "PDHK2; PDK2; PDKII", "protein_names_uniprotkb": "[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 2, mitochondrial; 2.7.11.2; PDH kinase 2; PDKII; Pyruvate dehydrogenase kinase isoform 2", "protein_names_refseq": "PDH kinase 2; [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 2, mitochondrial; pyruvate dehydrogenase kinase, isoenzyme 2; pyruvate dehydrogenase kinase, isozyme 2 isoform 2; pyruvate dehydrogenase kinase, isozyme 2; pyruvate dehydrogenase, lipoamide, kinase isozyme 2, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:5164); (R-HSA-204174); (R-HSA-5362517)", "pathway_count": 3, "publication_count": 60, "publication_id_list": "10493790;11237011;11327815;11485553;11486000;11909957;12816949;15491150;15855260;15866176;16401071;16517984;17222789;17344846;17532339;17544412;17669420;18542081;19144697;19833728;19850744;20042001;20215566;20884751;21283817;21504868;21998312;22123926;22871568;23991366;24715725;25525879;25576301;25880248;29557506;30429286;31154438;31844290;32157095;32357974;33236596;33592498;33783904;33968037;34185709;34464482;35051231;35154160;36010968;36215666;37217939;7499431;7704533;8798399;9395502;9405293;9651365;9710704;9787110;9815194", "class_list": "", "function": "Circular RNA hsa_circ_0005397 promotes hepatocellular carcinoma progression by regulating the miR-326/PDK2 axis., [RefSeq, PubMed]; Kinase that plays a key role in the regulation of glucose and fatty acid metabolism and homeostasis via phosphorylation of the pyruvate dehydrogenase subunits PDHA1 and PDHA2. This inhibits pyruvate dehydrogenase activity, and thereby regulates metabolite flux through the tricarboxylic acid cycle, down-regulates aerobic respiration and inhibits the formation of acetyl-coenzyme A from pyruvate. Inhibition of pyruvate dehydrogenase decreases glucose utilization and increases fat metabolism. Mediates cellular responses to insulin. Plays an important role in maintaining normal blood glucose levels and in metabolic adaptation to nutrient availability. Via its regulation of pyruvate dehydrogenase activity, plays an important role in maintaining normal blood pH and in preventing the accumulation of ketone bodies under starvation. Plays a role in the regulation of cell proliferation and in resistance to apoptosis under oxidative stress. Plays a role in p53/TP53-mediated apoptosis., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; PDK2 leads to cisplatin resistance through suppression of mitochondrial function in ovarian clear cell carcinoma., [RefSeq, PubMed]; This gene encodes a member of the pyruvate dehydrogenase kinase family. The encoded protein phosphorylates pyruvate dehydrogenase, down-regulating the activity of the mitochondrial pyruvate dehydrogenase complex. Overexpression of this gene may play a role in both cancer and diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]., [RefSeq]; [Expression Level of Protein Kinase D in Oral Squamous Cell Carcinoma with Diverse Differentiation]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K3A7;B3KNW0;Q6P515;Q9BS05", "ec_number_list": [ { "id": "1.2.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.4.1", "type": "external" }, { "id": "1.8.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.1.4", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.12", "type": "external" }, { "id": "2.7.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" } ], "go_molecular_function": "GO:0004740 pyruvate dehydrogenase (acetyl-transferring) kinase activity;GO:0004672 protein kinase activity;GO:0005524 ATP binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0045254 pyruvate dehydrogenase complex", "go_biological_process": "GO:0031670 cellular response to nutrient;GO:0010565 regulation of ketone metabolic process;GO:0010906 regulation of glucose metabolic process;GO:0042593 glucose homeostasis;GO:0006006 glucose metabolic process", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q15119-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51617-1", "uniprot_id": [ { "id": "IRAK1_HUMAN", "url": "https://www.uniprot.org/uniprot/P51617", "type": "external" } ], "mass": 76537.0, "length": 712, "protein_name": "Interleukin-1 receptor-associated kinase 1", "gene_name": "IRAK1", "organism": "Human", "refseq_name": "interleukin-1 receptor-associated kinase 1 isoform 2", "refseq_ac": [ { "id": "NP_001020413", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020413", "type": "external" } ], "gene_names_uniprotkb": "IRAK1; IRAK", "gene_names_refseq": "IRAK1; IRAK; pelle", "protein_names_uniprotkb": "Interleukin-1 receptor-associated kinase 1; 2.7.11.1; IRAK-1", "protein_names_refseq": "Pelle homolog; interleukin-1 receptor-associated kinase 1 isoform 2", "tax_id": 9606, "disease": "cognitive disorder (Disease Ontology:DOID:1561); diffuse scleroderma (Disease Ontology:DOID:1580); squamous cell carcinoma (Disease Ontology:DOID:1749); brain ischemia (Disease Ontology:DOID:2316); asthma (Disease Ontology:DOID:2841); pulmonary tuberculosis (Disease Ontology:DOID:2957); primary immunodeficiency disease (Disease Ontology:DOID:612); ankylosing spondylitis (Disease Ontology:DOID:7147); psoriasis (Disease Ontology:DOID:8893); psoriatic arthritis (Disease Ontology:DOID:9008)", "pathway": " (hsa:3654); (R-HSA-1257604); (R-HSA-166058); (R-HSA-168638); (R-HSA-209543); (R-HSA-209560); (R-HSA-445989); (R-HSA-450302); (R-HSA-450321); (R-HSA-6811558); (R-HSA-8986944); (R-HSA-9020702); (R-HSA-937039); (R-HSA-9705671); (R-HSA-975110); (R-HSA-975138); (R-HSA-975144); (R-HSA-975155); (R-HSA-975871)", "pathway_count": 19, "publication_count": 285, "publication_id_list": "10022904;10075690;10191262;10224040;10329646;10465784;10514433;10702308;10723127;10723722;10747026;10854325;10882101;10918611;11073981;11087742;11094434;11147812;11237011;11244088;11397809;11460167;11487608;11544529;11803464;11960013;11976320;12019269;12138165;12140561;12167717;12171911;12297423;12447441;12447442;12496252;12514169;12527755;12538665;12692549;12724322;12759408;12767043;12791687;12791997;12796777;12860405;12874243;12917691;1325671;14514672;14625308;14633987;14684752;15084582;15145317;15208624;15327770;15361868;15465037;15465816;15492225;15496460;15585605;15620648;15718470;15767370;15837794;15917247;15944945;16024789;16056267;16186825;16286015;16286016;16439361;16456541;16547522;16690127;16751103;16884718;16951688;17047224;17135271;17141195;17200115;17303577;17344846;17485511;17496917;17507369;17562858;17675297;17726518;17728323;17878161;17890055;17997719;18070880;18070982;18079694;18180283;1828071;1833184;18347055;18438411;18462684;18524972;18669648;18691762;18691976;18710948;18724939;18794297;18829464;18925875;19022706;19224918;19264966;19498957;19509286;19535145;19576174;19592493;19592497;19675569;19805105;19903815;20068231;20300203;20338997;20400509;20485341;20966070;2139180;2147937;21606490;21827948;22454496;22941947;23186163;23301498;23392593;23481700;23555621;24715725;24840642;25027698;25418920;25576301;25812014;26068967;26503059;26527316;26811146;26843422;26929215;26992070;27466718;27600516;27619757;27701768;27790836;27920218;28063628;28218747;28228285;28411811;28436939;28683304;28832583;28834231;28904123;29242379;29393594;29437277;2946959;29493099;29557506;29611775;29632046;29632711;29883609;30315122;30524438;31844290;31850239;32157095;32353859;32357974;32387766;32428392;32488085;32502341;32589897;32726803;32728199;32938616;32953130;32979938;33024073;33060197;33097660;33110251;33141586;33298915;33349665;33360543;33372174;33372854;33396605;33440148;33479219;33495715;33514628;33567255;33592498;33633747;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33912179;33936100;33963333;33968037;33989516;33990585;34021074;34054808;34084167;34110168;34166398;34171305;34239064;34290717;34341353;34375313;34400613;34439781;34452305;34471099;34502139;34597346;35051231;35102342;35580925;35643212;36241641;37051252;37903473;38253038;38830885;38986278;39894887;7628694;7637810;7744773;8327496;8332913;8533096;8599092;8622669;8645157;8837778;9008162;9252186;9346484;9371760;9430229;9430721;9575168;9736715;9744859;9768359;9859996;9865693;9895304;9915784;9990852;9990853", "class_list": "", "function": "HNRNP I promotes IRAK1 degradation to reduce podocyte apoptosis and inflammatory response alleviating renal injury in diabetic nephropathy., [RefSeq, PubMed]; Serine/threonine-protein kinase that plays a critical role in initiating innate immune response against foreign pathogens. Involved in Toll-like receptor (TLR) and IL-1R signaling pathways. Is rapidly recruited by MYD88 to the receptor-signaling complex upon TLR activation. Association with MYD88 leads to IRAK1 phosphorylation by IRAK4 and subsequent autophosphorylation and kinase activation. Phosphorylates E3 ubiquitin ligases Pellino proteins (PELI1, PELI2 and PELI3) to promote pellino-mediated polyubiquitination of IRAK1. Then, the ubiquitin-binding domain of IKBKG/NEMO binds to polyubiquitinated IRAK1 bringing together the IRAK1-MAP3K7/TAK1-TRAF6 complex and the NEMO-IKKA-IKKB complex. In turn, MAP3K7/TAK1 activates IKKs (CHUK/IKKA and IKBKB/IKKB) leading to NF-kappa-B nuclear translocation and activation. Alternatively, phosphorylates TIRAP to promote its ubiquitination and subsequent degradation. Phosphorylates the interferon regulatory factor 7 (IRF7) to induce its activation and translocation to the nucleus, resulting in transcriptional activation of type I IFN genes, which drive the cell in an antiviral state. When sumoylated, translocates to the nucleus and phosphorylates STAT3., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The m6A reader HNRNPC promotes glioma progression by enhancing the stability of IRAK1 mRNA through the MAPK pathway. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes the interleukin-1 receptor-associated kinase 1, one of two putative serine/threonine kinases that become associated with the interleukin-1 receptor (IL1R) upon stimulation. This gene is partially responsible for IL1-induced upregulation of the transcription factor NF-kappa B. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; YTHDC1-Modified m6A Methylation of Hsa_circ_0102678 Promotes Keratinocyte Inflammation Induced by Cutibacterium acnes Biofilm through Regulating miR-146a/TRAF6 and IRAK1 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": 20, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 10, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DWW3;D3DWW4;Q7Z5V4;Q96C06;Q96RL2", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.2.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.6", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0019901 protein kinase binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005811 lipid droplet;GO:0005829 cytosol", "go_biological_process": "GO:0070498 interleukin-1-mediated signaling pathway;GO:1904996 positive regulation of leukocyte adhesion to vascular endothelial cell;GO:0044546 NLRP3 inflammasome complex assembly;GO:0032496 response to lipopolysaccharide;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 28.8, "record_id": "P51617-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H5P4-3", "uniprot_id": [ { "id": "PDZD7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H5P4", "type": "external" } ], "mass": 111752.0, "length": 1033, "protein_name": "PDZ domain-containing protein 7", "gene_name": "PDZD7", "organism": "Human", "refseq_name": "PDZ domain-containing protein 7 isoform 1", "refseq_ac": [ { "id": "NP_001182192", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182192", "type": "external" } ], "gene_names_uniprotkb": "PDZD7; PDZK7", "gene_names_refseq": "DFNB57; PDZD7; PDZK7", "protein_names_uniprotkb": "PDZ domain-containing protein 7", "protein_names_refseq": "PDZ domain-containing protein 7 isoform 1; PDZ domain-containing protein 7; deafness, autosomal recessive 57", "tax_id": 9606, "disease": "Usher syndrome type 2A (Disease Ontology:DOID:0110838); Usher syndrome type 2C (Disease Ontology:DOID:0110839); autosomal recessive nonsyndromic deafness 57 (Disease Ontology:DOID:0111635)", "pathway": " (hsa:79955)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "19028668;20440071;23055499;26416264;26849169;29048736;31129248;31454969;32157095;32387766;33392160;34509645;35051231;35580925;35715776;37217939;38253038;38956522", "class_list": "", "function": "Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia. Erratum:[BMC Med Genomics. 2025 Aug 4;18(1):126. doi: 10.1186/s12920-025-02197-2. PMID: 40760435] Publication Status: Online-Only, [RefSeq, PubMed]; In cochlear developing hair cells, essential in organizing the USH2 complex at stereocilia ankle links. Blocks inhibition of adenylate cyclase activity mediated by ADGRV1., [UniProtKB, UniProtKB]; Novel homozygous variant in the PDZD7 gene in a family with nonsyndromic sensorineural hearing loss. Publication Status: Online-Only, [RefSeq, PubMed]; PDZD7 can be an important causative gene for moderate to severe ARNSHL in Koreans. Moreover, at least some, if not all, p.Arg164Trp alleles in Koreans could exert a potential founder effect and arise from diverse haplotypes as a mutational hot spot. Publication Status: Online-Only, [RefSeq, PubMed]; PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome., [RefSeq, PubMed]; PDZD7 is a new autosomal-recessive deafness-causing gene and a prime candidate gene for Usher syndrome., [RefSeq, PubMed]; PDZD7 is a scaffolding component of the ankle-link complex in stereocilia and is associated with the Usher syndrome protein network., [RefSeq, PubMed]; This gene encodes a ciliary protein homologous to proteins which are mutated in Usher syndrome patients, and mutations and translocations involving this gene have been associated with two types of Usher syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]., [RefSeq]; Three mutations in PDZD7 gene linked to autosomal recessive non-syndromic hearing loss (ARNSHL) were identified in a Chinese pedigree. The findings expand not only our knowledge of genetic causes of ARNSHL, but also PDZD7 genes mutation spectrum of the disease. They will aid personalized genetic counseling, molecular diagnostics and clinical management of this condition., [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": 28, "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": "D5FJ77;Q8N321", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005886 plasma membrane;GO:0005929 cilium;GO:0002142 stereocilia ankle link complex", "go_biological_process": "GO:0050910 detection of mechanical stimulus involved in sensory perception of sound;GO:0045184 establishment of protein localization;GO:0007605 sensory perception of sound;GO:0060088 auditory receptor cell stereocilium organization;GO:0060113 inner ear receptor cell differentiation", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q9H5P4-3", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5I0-1", "uniprot_id": [ { "id": "PCDAD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5I0", "type": "external" } ], "mass": 102483.0, "length": 950, "protein_name": "Protocadherin alpha-13", "gene_name": "PCDHA13", "organism": "Human", "refseq_name": "protocadherin alpha-13 isoform 1 precursor", "refseq_ac": [ { "id": "NP_061727", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061727", "type": "external" } ], "gene_names_uniprotkb": "PCDHA13; CNRS5", "gene_names_refseq": "CNR5; CNRN5; CNRS5; CRNR5; PCDH-ALPHA13; PCDHA13", "protein_names_uniprotkb": "Protocadherin alpha-13; PCDH-alpha-13", "protein_names_refseq": "KIAA0345-like 1; PCDH-alpha-13; ortholog of mouse CNR5; protocadherin alpha-13 isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:56136)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "10380929;11237011;29557506;31154438;35051231", "class_list": "", "function": "Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [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": 62, "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": "O75277", "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_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q9Y5I0-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16513-1", "uniprot_id": [ { "id": "PKN2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16513", "type": "external" } ], "mass": 112035.0, "length": 984, "protein_name": "Serine/threonine-protein kinase N2", "gene_name": "PKN2", "organism": "Human", "refseq_name": "serine/threonine-protein kinase N2 isoform 2", "refseq_ac": [ { "id": "NP_001307636", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307636", "type": "external" } ], "gene_names_uniprotkb": "PKN2; PRK2; PRKCL2", "gene_names_refseq": "PAK2; PKN2; PRK2; PRKCL2; PRO2042; Pak-2; STK7", "protein_names_uniprotkb": "Serine/threonine-protein kinase N2; 2.7.11.13; PKN gamma; Protein kinase C-like 2; Protein-kinase C-related kinase 2", "protein_names_refseq": "PKN gamma; cardiolipin-activated protein kinase Pak2; protein kinase C-like 2; protein-kinase C-related kinase 2; serine/threonine-protein kinase N2 isoform 2; serine/threonine-protein kinase N2", "tax_id": 9606, "disease": "", "pathway": " (hsa:5586); (R-HSA-5625740); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106); (R-HSA-9013149); (R-HSA-9856530)", "pathway_count": 7, "publication_count": 425, "publication_id_list": "10.1101/2023.09.13.557529;10026169;10037681;10226025;10232922;10330186;10376603;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10619026;10639123;10649434;10699171;10699464;10753910;10764742;10792047;10818102;10873388;10873802;10924361;10926925;10958683;11007481;11058585;11085924;11134534;11149925;11207612;11237011;11313932;11331307;11356191;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11680691;11689693;11704860;11707441;11756552;11773441;11777936;11781095;11803464;11804587;11804589;11804590;11853546;11884391;11912491;11942626;11961559;11968001;12071859;12093360;12096337;12176338;12195014;12221077;12221096;12351724;12432077;12473120;12531887;12546821;12547822;12650940;12665586;12724311;12783890;12857875;12877655;12923183;14512443;14514689;1464587;14675773;14718541;15003508;15023524;15033976;15064355;15107133;15123640;15133129;15147912;15184667;15302923;15302935;15304325;15339924;15342493;15364941;15485661;15507211;15579468;15592455;15601624;15611138;15718470;15728722;15791647;15850391;15858067;15866170;15897194;15944396;16002401;16112081;16116428;16184169;16217026;16243036;16467373;16473593;16492808;16507994;16519628;16630611;16636067;16702231;16762923;16776779;16777452;16777849;16780920;16862148;16896804;16914516;16917499;16964243;16968698;17077126;17081983;17145773;17196961;17198702;17214551;17244649;17301291;17332740;17562871;17583407;17599059;17702745;17765681;17804252;17924679;17932950;17942708;17976533;18006505;18045877;18158243;18218625;18220336;18249095;18347018;18396277;18426980;18452278;18578522;18653540;18669648;18691976;18707149;18710921;18802007;18829452;18835241;18838382;19020623;19269969;19413330;19415658;19494238;19605563;19635168;19651622;19664994;19673492;19713215;19723632;19934221;20030946;20058876;20068231;20101212;20166139;20188095;20400958;20460433;20591975;20628200;20660154;20679435;20810653;20974804;21148482;21351730;21373644;21454492;21542010;21565175;21576392;21613211;21699497;21730051;21749319;21754995;21757538;21865595;21936715;21989057;22004470;22096251;22298643;22305756;22407364;22475431;22608513;22673745;22734669;22790947;22911862;22970203;22992742;23186163;23200924;23209303;23255595;23288169;23434736;23572525;23707487;23718289;23870313;23940355;24086303;24128008;24259668;24275569;24335996;24352656;24859002;24933155;24960694;25024229;25211221;25418920;25425145;25428919;25576301;25645385;25673874;25704760;25721503;25795300;25862245;25880248;26129894;26371245;26375851;26529257;26887924;26992070;27104747;27117132;27145964;27216196;27481945;27555588;27566546;27566826;27600516;27713499;27797339;27806292;27846572;27862975;27869121;27920218;27986909;28063628;28112683;28114311;28196833;28218747;28228285;28514659;28584191;28832583;28904123;29089502;29146911;29242379;29358323;29382922;29393594;29493099;29557506;29632046;29632711;29786170;30315122;30379171;30429286;30779550;30833945;30853411;31105010;31154438;31205027;31222486;31844290;31848261;31871319;32119511;32157095;32161166;32203420;32265295;32296767;32357974;32387766;32488085;32502341;32938616;32983136;33123756;33298915;33537174;33592498;33691108;33912179;33936100;33968037;33981976;34078123;34171305;34229054;34405274;34499618;34509645;34725712;34759927;34932366;35051231;35138101;35580925;35895078;36010968;36241641;36284347;37938771;38505918;7479768;7512369;7559638;7673236;7721814;7753201;7835339;7851406;7876172;7988719;8021274;8107774;8537347;8543060;8571126;8617235;8643598;8645157;8649427;8662509;8662891;8700127;8756646;8769096;8798539;8805223;8807639;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9111050;9113980;9121475;9278512;9305890;9354661;9368003;9418861;9438849;9490638;9497316;9535835;9548756;9582072;9620797;9659915;9670022;9792683;9822598;9822605;9829970;9843499;9889122;9988689", "class_list": "", "function": "(Microbial infection) Phosphorylates HCV NS5B leading to stimulation of HCV RNA replication., [UniProtKB, PubMed]; Genome-Wide Association Study for Idiopathic Ventricular Tachyarrhythmias Identifies Key Role of CCR7 and PKN2 in Calcium Homeostasis and Cardiac Rhythm Maintenance., [RefSeq, PubMed]; Increased PKN2 and M2-Polarized Macrophages Promote HCT116 Cell Invasion., [RefSeq, PubMed]; PKC-related serine/threonine-protein kinase and Rho/Rac effector protein that participates in specific signal transduction responses in the cell. Plays a role in the regulation of cell cycle progression, actin cytoskeleton assembly, cell migration, cell adhesion, tumor cell invasion and transcription activation signaling processes. Phosphorylates CTTN in hyaluronan-induced astrocytes and hence decreases CTTN ability to associate with filamentous actin. Phosphorylates HDAC5, therefore lead to impair HDAC5 import. Direct RhoA target required for the regulation of the maturation of primordial junctions into apical junction formation in bronchial epithelial cells. Required for G2/M phases of the cell cycle progression and abscission during cytokinesis in a ECT2-dependent manner. Stimulates FYN kinase activity that is required for establishment of skin cell-cell adhesion during keratinocytes differentiation. Regulates epithelial bladder cells speed and direction of movement during cell migration and tumor cell invasion. Inhibits Akt pro-survival-induced kinase activity. Mediates Rho protein-induced transcriptional activation via the c-fos serum response factor (SRF). Involved in the negative regulation of ciliogenesis (PubMed:27104747)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Role of PKM2-Mediated Immunometabolic Reprogramming on Development of Cytokine Storm. Review article Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 35, "reported_mutagensis": 21, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DQ21;B4DTP5;B4DVG1;D3DT24;Q08AF4;Q9H1W4", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "3.1.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.4", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "1.6.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.3.-", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "3.1.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.-", "type": "external" }, { "id": "7.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.-", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "1.14.13.39", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.39", "type": "external" }, { "id": "1.14.14.18", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.18", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;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:0005829 cytosol;GO:0030027 lamellipodium", "go_biological_process": "GO:0043297 apical junction assembly;GO:0010631 epithelial cell migration;GO:0006351 DNA-templated transcription;GO:0006468 protein phosphorylation;GO:0007155 cell adhesion", "synthesized_glycan_count": 0, "hit_score": 43.0, "record_id": "Q16513-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51149-1", "uniprot_id": [ { "id": "RAB7A_HUMAN", "url": "https://www.uniprot.org/uniprot/P51149", "type": "external" } ], "mass": 23490.0, "length": 207, "protein_name": "Ras-related protein Rab-7a", "gene_name": "RAB7A", "organism": "Human", "refseq_name": "ras-related protein Rab-7a", "refseq_ac": [ { "id": "NP_004628", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004628", "type": "external" } ], "gene_names_uniprotkb": "RAB7A; RAB7", "gene_names_refseq": "CMT2B; PRO2706; RAB7A; RAB7", "protein_names_uniprotkb": "Ras-related protein Rab-7a; 3.6.5.2", "protein_names_refseq": "RAB7, member RAS oncogene family; Ras-associated protein RAB7; ras-related protein Rab-7a", "tax_id": 9606, "disease": "Charcot-Marie-Tooth disease type 2 (Disease Ontology:DOID:0050539); Charcot-Marie-Tooth disease type 2B (Disease Ontology:DOID:0110159); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:7879); (R-HSA-2132295); (R-HSA-6798695); (R-HSA-8854214); (R-HSA-8873719); (R-HSA-8876198); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013405); (R-HSA-9013406); (R-HSA-9013407); (R-HSA-9013408); (R-HSA-9013409); (R-HSA-9013423); (R-HSA-9035034); (R-HSA-9636383); (R-HSA-9636569)", "pathway_count": 18, "publication_count": 796, "publication_id_list": 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"class_list": "", "function": "A RAB7A phosphoswitch coordinates Rubicon Homology protein regulation of Parkin-dependent mitophagy., [RefSeq, PubMed]; Deregulated expression of autophagy genes; PIK3C3 and RAB7A in COVID-19 patients., [RefSeq, PubMed]; Lysosomal TBK1 responds to amino acid availability to relieve Rab7-dependent mTORC1 inhibition., [RefSeq, PubMed]; Post-Transcriptional Regulation of Rab7a in Lysosomal Positioning and Drug Resistance in Nutrient-Limited Cancer Cells., [RefSeq, PubMed]; RAB family members are small, RAS-related GTP-binding proteins that are important regulators of vesicular transport. Each RAB protein targets multiple proteins that act in exocytic / endocytic pathways. This gene encodes a RAB family member that regulates vesicle traffic in the late endosomes and also from late endosomes to lysosomes. This encoded protein is also involved in the cellular vacuolation of the VacA cytotoxin of Helicobacter pylori. Mutations at highly conserved amino acid residues in this gene have caused some forms of Charcot-Marie-Tooth (CMT) type 2 neuropathies. [provided by RefSeq, Jul 2008]., [RefSeq]; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (PubMed:38538795). In its active state, RAB7A binds to a variety of effector proteins playing a key role in the regulation of endo-lysosomal trafficking. Governs early-to-late endosomal maturation, microtubule minus-end as well as plus-end directed endosomal migration and positioning, and endosome-lysosome transport through different protein-protein interaction cascades. Also plays a central role in growth-factor-mediated cell signaling, nutrient-transportor mediated nutrient uptake, neurotrophin transport in the axons of neurons and lipid metabolism. Also involved in regulation of some specialized endosomal membrane trafficking, such as maturation of melanosomes, pathogen-induced phagosomes (or vacuoles) and autophagosomes. Plays a role in the maturation and acidification of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis. Plays a role in the fusion of phagosomes with lysosomes. In concert with RAC1, plays a role in regulating the formation of RBs (ruffled borders) in osteoclasts. Controls the endosomal trafficking and neurite outgrowth signaling of NTRK1/TRKA (PubMed:11179213, PubMed:12944476, PubMed:14617358, PubMed:20028791, PubMed:21255211). Regulates the endocytic trafficking of the EGF-EGFR complex by regulating its lysosomal degradation. Involved in the ADRB2-stimulated lipolysis through lipophagy, a cytosolic lipase-independent autophagic pathway (By similarity). Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413). Required for vesicular trafficking and cell surface expression of ACE2 (PubMed:33147445). May play a role in PRPH neuronal intermediate filament assembly (By similarity)., [UniProtKB, 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 7, "reported_glycation": 0, "reported_snv": 6, "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": "A8K3V6;Q9NWJ0;Q9UPB0", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.1.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.4", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "7.1.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.2", "type": "external" }, { "id": "1.6.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.3.-", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "3.4.24.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.11", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "2.3.1.168", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.168", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.4.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.2", "type": "external" }, { "id": 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"url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.95", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.95", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "1.16.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.1.-", "type": "external" }, { "id": "7.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "2.1.1.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.13", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.4.22.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.-", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0031267 small GTPase binding;GO:0019003 GDP binding;GO:1905394 retromer complex binding", "go_cellular_component": "GO:0000421 autophagosome membrane;GO:0005739 mitochondrion;GO:0005811 lipid droplet;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0036466 synaptic vesicle recycling via endosome;GO:0090382 phagosome maturation;GO:0090383 phagosome acidification;GO:0000045 autophagosome assembly;GO:0006897 endocytosis", "synthesized_glycan_count": 0, "hit_score": 79.9, "record_id": "P51149-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15118-1", "uniprot_id": [ { "id": "PDK1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15118", "type": "external" } ], "mass": 49244.0, "length": 436, "protein_name": "[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, mitochondrial", "gene_name": "PDK1", "organism": "Human", "refseq_name": "[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, mitochondrial isoform 1 precursor", "refseq_ac": [ { "id": "NP_001265478", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265478", "type": "external" } ], "gene_names_uniprotkb": "PDK1; PDHK1", "gene_names_refseq": "PDK1", "protein_names_uniprotkb": "[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, mitochondrial; 2.7.11.2; PDH kinase 1; Pyruvate dehydrogenase kinase isoform 1", "protein_names_refseq": "PDH kinase 1; [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, mitochondrial isoform 1 precursor; [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, mitochondrial; mitochondrial pyruvate dehydrogenase, lipoamide, kinase isoenzyme 1; pyruvate dehydrogenase kinase, isoenzyme 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:5163); (R-HSA-204174); (R-HSA-5362517); (R-HSA-9837999)", "pathway_count": 4, "publication_count": 99, "publication_id_list": "10493790;11237011;11327815;11485553;11486000;11909957;11923310;12177059;12198491;14623864;15522782;15855260;15866176;15870080;16115876;17101804;17297443;17344846;17532339;17544412;17579211;17683942;18541534;18542081;19144697;19833728;19841671;19850744;20042001;20215566;20884751;21504868;21763680;21998312;22195962;22262461;22710082;22871568;23201127;23481700;23931759;23991366;24315374;24520911;24715725;25418920;25525879;25576301;26504172;26811146;26923599;26942675;26992070;27496948;27505672;27642048;28228285;28377575;28396416;28832583;29242379;29301859;29393594;29557506;29632046;29789417;29932645;30120231;30379171;31217245;31327635;31578148;31695197;31844290;32157095;32265295;32387766;33141586;33257573;33912179;34357683;34704252;34943861;35870450;36629048;38199564;38353358;38733179;39080182;39256595;7499431;7623837;7704533;8798399;9395502;9405293;9651365;9710704;9815194", "class_list": "", "function": "Circadian modulation of glucose utilization via CRY1-mediated repression of Pdk1 expression., [RefSeq, PubMed]; Glutaminase potentiates the glycolysis in esophageal squamous cell carcinoma by interacting with PDK1., [RefSeq, PubMed]; Inhibition of the ubiquitin-proteasome system reduces the abundance of pyruvate dehydrogenase kinase 1 in cultured myotubes., [RefSeq, PubMed]; Kinase that plays a key role in regulation of glucose and fatty acid metabolism and homeostasis via phosphorylation of the pyruvate dehydrogenase subunits PDHA1 and PDHA2 (PubMed:7499431, PubMed:18541534, PubMed:22195962, PubMed:26942675, PubMed:17683942). This inhibits pyruvate dehydrogenase activity, and thereby regulates metabolite flux through the tricarboxylic acid cycle, down-regulates aerobic respiration and inhibits the formation of acetyl-coenzyme A from pyruvate (PubMed:18541534, PubMed:22195962, PubMed:26942675). Plays an important role in cellular responses to hypoxia and is important for cell proliferation under hypoxia (PubMed:18541534, PubMed:22195962, PubMed:26942675)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Long non-coding RNA NEAT1 promotes aerobic glycolysis and progression of cervical cancer through WNT/beta-catenin/PDK1 axis., [RefSeq, PubMed]; Pyruvate dehydrogenase (PDH) is a mitochondrial multienzyme complex that catalyzes the oxidative decarboxylation of pyruvate and is one of the major enzymes responsible for the regulation of homeostasis of carbohydrate fuels in mammals. The enzymatic activity is regulated by a phosphorylation/dephosphorylation cycle. Phosphorylation of PDH by a specific pyruvate dehydrogenase kinase (PDK) results in inactivation. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 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": 15, "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": "B2R6T1;B7Z937;D3DPD8;E9PD65;Q308M4", "ec_number_list": [ { "id": "2.3.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.1", "type": "external" }, { "id": "7.1.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.2", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "1.4.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.1.3", "type": "external" }, { "id": "1.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.3", "type": "external" }, { "id": "6.4.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.4.1.3", "type": "external" }, { "id": "7.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.2.2", "type": "external" }, { "id": "4.2.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.2", "type": "external" }, { "id": "1.2.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.4.1", "type": "external" }, { "id": "1.8.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.1.4", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.12", "type": "external" }, { "id": "5.6.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.7", "type": "external" }, { "id": "2.3.1.168", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.168", "type": "external" }, { "id": "2.3.1.37", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.37", "type": "external" }, { "id": "4.98.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:4.98.1.1", "type": "external" }, { "id": "1.1.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.38", "type": "external" }, { "id": "2.3.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.9", "type": "external" }, { "id": "1.2.1.36", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.36", "type": "external" }, { "id": "1.7.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.7.1.-", "type": "external" }, { "id": "1.2.1.28", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.28", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "1.1.1.37", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.37", "type": "external" }, { "id": "5.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.8", "type": "external" }, { "id": "1.3.8.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.1", "type": "external" }, { "id": "1.3.8.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.5", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "1.1.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.41", "type": "external" }, { "id": "2.3.3.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.10", "type": "external" }, { "id": "2.8.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.3.5", "type": "external" }, { "id": "3.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.1", "type": "external" }, { "id": "1.2.4.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.4.2", "type": "external" }, { "id": "1.1.1.30", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.30", "type": "external" }, { "id": "5.3.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.21", "type": "external" }, { "id": "2.7.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "3.4.21.92", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.92", "type": "external" }, { "id": "1.1.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.35", "type": "external" }, { "id": "2.7.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.23", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "6.2.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.4", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "1.1.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.62", "type": "external" }, { "id": "1.1.1.239", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.239", "type": "external" }, { "id": "1.1.1.178", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.178", "type": "external" }, { "id": "1.1.1.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.53", "type": "external" }, { "id": "1.1.1.159", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.159", "type": "external" }, { "id": "4.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.3", "type": "external" }, { "id": "6.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.5", "type": "external" }, { "id": "2.3.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.41", "type": "external" } ], "go_molecular_function": "GO:0004740 pyruvate dehydrogenase (acetyl-transferring) kinase activity;GO:0004672 protein kinase activity;GO:0005524 ATP binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005886 plasma membrane;GO:0045254 pyruvate dehydrogenase complex", "go_biological_process": "GO:0008283 cell population proliferation;GO:0010906 regulation of glucose metabolic process;GO:0006006 glucose metabolic process;GO:0043491 phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0010510 regulation of pyruvate decarboxylation to acetyl-CoA", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "Q15118-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IVU1-1", "uniprot_id": [ { "id": "IGDC3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IVU1", "type": "external" } ], "mass": 86724.0, "length": 814, "protein_name": "Immunoglobulin superfamily DCC subclass member 3", "gene_name": "IGDCC3", "organism": "Human", "refseq_name": "immunoglobulin superfamily DCC subclass member 3 precursor", "refseq_ac": [ { "id": "NP_004875", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004875", "type": "external" } ], "gene_names_uniprotkb": "IGDCC3; PUNC", "gene_names_refseq": "HsT18880; IGDCC3; PUNC", "protein_names_uniprotkb": "Immunoglobulin superfamily DCC subclass member 3; Putative neuronal cell adhesion molecule", "protein_names_refseq": "immunoglobulin superfamily DCC subclass member 3 precursor; putative neuronal cell adhesion molecule", "tax_id": 9606, "disease": "", "pathway": " (hsa:9543)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "10.1101/2023.09.13.557529;11237011;31154438;31844290;35051231;9922388", "class_list": "", "function": "", "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": 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": 32, "reported_interactions": 0, "missing_score": 9641, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "O95215", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0098609 cell-cell adhesion", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q8IVU1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15124-1", "uniprot_id": [ { "id": "PGM5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15124", "type": "external" } ], "mass": 62225.0, "length": 567, "protein_name": "Phosphoglucomutase-like protein 5", "gene_name": "PGM5", "organism": "Human", "refseq_name": "phosphoglucomutase-like protein 5", "refseq_ac": [ { "id": "NP_068800", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068800", "type": "external" } ], "gene_names_uniprotkb": "PGM5; PGMRP", "gene_names_refseq": "PGM5; PGMRP", "protein_names_uniprotkb": "Phosphoglucomutase-like protein 5; Aciculin; PGM-RP; Phosphoglucomutase-related protein", "protein_names_refseq": "PGM-RP; aciculin; phosphoglucomutase-like protein 5; phosphoglucomutase-related protein", "tax_id": 9606, "disease": "congenital disorder of glycosylation It (Disease Ontology:DOID:0080570)", "pathway": " (hsa:5239)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "11237011;20068231;20166139;23481700;24275569;24963132;27862975;29393594;29557506;29786170;30418433;30429286;31154438;31844290;31848261;32157095;32938616;33912179;34171305;34185709;35051231;35580925;37938771;8175905;8631316;9342213", "class_list": "glycogene", "function": "Aciculin interacts with filamin C and Xin and is essential for myofibril assembly., [RefSeq, PubMed]; Component of adherens-type cell-cell and cell-matrix junctions (PubMed:8175905). Positively regulates maturation and alignment of myofibrils, also promotes organization of sarcomeres (By similarity). Has no phosphoglucomutase activity in vitro (PubMed:8175905)., [UniProtKB, UniProtKB, PubMed]; Phosphoglucomutases (EC 5.2.2.2.), such as PGM5, are phosphotransferases involved in interconversion of glucose-1-phosphate and glucose-6-phosphate. PGM activity is essential in formation of carbohydrates from glucose-6-phosphate and in formation of glucose-6-phosphate from galactose and glycogen (Edwards et al., 1995 [PubMed 8586438]).[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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 778, "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": "B1AM46;B4DLQ6;Q5VYV3;Q8N527;Q9UDH4", "ec_number_list": [], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0005198 structural molecule activity;GO:0016868 intramolecular phosphotransferase activity;GO:0004614 phosphoglucomutase activity", "go_cellular_component": "GO:0016010 dystrophin-associated glycoprotein complex;GO:0005829 cytosol;GO:0005912 adherens junction;GO:0005925 focal adhesion;GO:0014704 intercalated disc", "go_biological_process": "GO:0014706 striated muscle tissue development;GO:0007155 cell adhesion;GO:0005975 carbohydrate metabolic process;GO:0030239 myofibril assembly", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q15124-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P20702-1", "uniprot_id": [ { "id": "ITAX_HUMAN", "url": "https://www.uniprot.org/uniprot/P20702", "type": "external" } ], "mass": 127829.0, "length": 1163, "protein_name": "Integrin alpha-X", "gene_name": "ITGAX", "organism": "Human", "refseq_name": "integrin alpha-X isoform 2 precursor", "refseq_ac": [ { "id": "NP_000878", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000878", "type": "external" } ], "gene_names_uniprotkb": "ITGAX; CD11C", "gene_names_refseq": "CD11C; ITGAX; SLEB6", "protein_names_uniprotkb": "Integrin alpha-X; CD11 antigen-like family member C; Leu M5; Leukocyte adhesion glycoprotein p150,95 alpha chain; Leukocyte adhesion receptor p150,95", "protein_names_refseq": "CD11 antigen-like family member C; integrin alpha X; integrin alpha-X isoform 2 precursor; integrin, alpha X (antigen CD11C (p150), alpha polypeptide); integrin, alpha X (complement component 3 receptor 4 subunit); leu M5, alpha subunit; leukocyte adhesion glycoprotein p150,95 alpha chain; leukocyte adhesion receptor p150,95; leukocyte surface antigen p150,95, alpha subunit; myeloid membrane antigen, alpha subunit; p150 95 integrin alpha chain", "tax_id": 9606, "disease": "", "pathway": " (hsa:3687); (R-HSA-202733); (R-HSA-216083); (R-HSA-3000178); (R-HSA-6785807); (R-HSA-6798695)", "pathway_count": 6, "publication_count": 316, "publication_id_list": "10022829;10023775;10209034;10219247;10339611;10366422;10369418;10438935;10510379;10543983;10586089;10593924;10605720;10606205;10640428;10673326;10673366;10713152;10764623;10811134;10867011;10982388;11058569;11084045;11084047;11104795;11120780;11158588;11207550;11237011;11256994;11259413;11278437;11278729;11356008;11404481;11463377;11518510;11564780;11572855;11713259;11779189;11812992;11960372;11980922;12070135;12208882;12223527;12225811;12242343;12469115;12496264;12585966;12600988;12682293;12782713;12807887;12832402;1376317;14529530;14615387;14634100;14712222;14715956;15000751;15075323;15116091;15240572;15261459;15296743;15330449;15345499;15383545;1544908;15528364;15584925;15681301;15713743;15721307;15805299;15869882;1588291;15899827;1591491;15950906;16002701;16007214;16048438;16051604;16107692;16205632;16236134;16239428;16258728;16293224;16297198;16397018;16451196;16493581;16510571;16540365;16585556;16606674;16691243;16731529;16737840;16754661;16783819;16933105;16985175;17064312;17099249;17116209;17167768;17172599;17322099;17339034;17379836;17427945;17442946;17452516;17458857;17505016;17525755;17563375;17572495;17580308;17588949;17600130;17615384;17625065;17968485;18243101;18353781;18447642;18644974;18710925;18775695;19124156;19159218;19185846;19279206;19397496;19502598;20033057;20033473;2010551;20112406;20493732;2059554;20705068;21102457;21193412;21252155;21642437;21659548;21689689;21730069;21763482;21789315;21937440;21994466;22046235;22134916;22205702;22383755;22539938;22693070;22844534;22851691;22884367;2303426;23086340;23124025;23172665;23374253;23455323;23555662;2364322;23650620;23945545;23967200;24043627;24097101;2412224;24129562;24190977;2420006;2430969;24397554;24715725;24743777;24764293;25234944;2538457;25418920;25576301;25645385;25880248;26154972;26811146;27452731;27600516;28218747;28467828;28832583;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29632711;29741879;29786170;29789417;30429286;32157095;32162841;32265295;32350084;32357974;32387766;32897882;32938616;32983136;33043033;3327687;33298915;33691108;33912179;34185709;34283878;34357683;34405274;34509645;34561969;35051231;35154160;35251023;35287505;35494241;3549901;35580925;35715938;36134483;36730754;37074911;37938771;468991;6193777;6439184;7499434;7505120;7509040;7510216;7512451;7521878;7525578;7527058;7529288;7541634;7542249;7542669;7559467;7685013;7693733;7795521;7796300;7852349;7898939;7907877;8002934;8085155;8118028;8163559;8166770;8314844;8344274;8440685;8560266;8602263;8621622;8663118;8668165;8692836;8797861;8798654;8816495;8838667;8910476;8943283;9013879;9052782;9169774;9242610;9251239;9252349;9294172;9295288;9341124;9346959;9382878;9443892;9565552;9651359;9685393;9693095;9723655;9736340;9763524;9822675;9858236;9874564;9949188", "class_list": "", "function": "BCR activated CLL B cells use both CR3 (CD11b/CD18) and CR4 (CD11c/CD18) for adhesion while CR4 has a dominant role in migration towards SDF-1. Publication Status: Online-Only, [RefSeq, PubMed]; Decreased CD11c-positive dendritic cells in the tumor microenvironment predict double-hit/triple-hit genotype and survival in diffuse large B-cell lymphoma., [RefSeq, PubMed]; Identification of ITGAX and CCR1 as potential biomarkers of atherosclerosis via Gene Set Enrichment Analysis., [RefSeq, PubMed]; Integrin alpha-X/beta-2 is a receptor for fibrinogen. It recognizes the sequence G-P-R in fibrinogen. It mediates cell-cell interaction during inflammatory responses. It is especially important in monocyte adhesion and chemotaxis. Functions as a receptor of the erythrocyte-specific adhesion molecule ICAM4 and mediates erythrophagocytosis (PubMed:16985175)., [UniProtKB, PubMed]; PAX5/ITGAX Contributed to the Progression of Atherosclerosis by Regulation of B Differentiation via TNF-alpha Signaling Pathway., [RefSeq, PubMed]; SERPINB8 and furin regulate ITGAX expression and affect the proliferation and invasion of melanoma cells., [RefSeq, PubMed]; This gene encodes the integrin alpha X chain protein. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as inactivated-C3b (iC3b) receptor 4 (CR4). The alpha X beta 2 complex seems to overlap the properties of the alpha M beta 2 integrin in the adherence of neutrophils and monocytes to stimulated endothelium cells, and in the phagocytosis of complement coated particles. Two 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": 8, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 6, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 8, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 8, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 12, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 53, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 28, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q8IVA6", "ec_number_list": [], "go_molecular_function": "GO:0005178 integrin binding;GO:0046872 metal ion binding;GO:0030971 receptor tyrosine kinase binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0070821 tertiary granule membrane;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007229 integrin-mediated signaling pathway;GO:0008284 positive regulation of cell population proliferation;GO:0010628 positive regulation of gene expression;GO:0030335 positive regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 35.3, "record_id": "P20702-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UL03-1", "uniprot_id": [ { "id": "INT6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UL03", "type": "external" } ], "mass": 100390.0, "length": 887, "protein_name": "Integrator complex subunit 6", "gene_name": "INTS6", "organism": "Human", "refseq_name": "integrator complex subunit 6 isoform b", "refseq_ac": [ { "id": "NP_001035026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035026", "type": "external" } ], "gene_names_uniprotkb": "INTS6; DBI1; DDX26A; DDX26", "gene_names_refseq": "DBI-1; DDX26A; DDX26; DICE1; HDB; INT6; INTS6; Notchl2", "protein_names_uniprotkb": "Integrator complex subunit 6; DBI-1; DICE1; Int6; Protein deleted in cancer 1", "protein_names_refseq": "DEAD box protein; DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26; RNA helicase HDB; integrator complex subunit 6 isoform b; protein deleted in cancer 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:26512); (R-HSA-6807505)", "pathway_count": 2, "publication_count": 108, "publication_id_list": "10022900;10467397;11237011;11856838;11939413;12414730;12527901;12574128;14701755;15254679;1535687;16007164;16239144;16271964;16308568;16901896;1739980;18079403;1829677;18669648;19667075;20068231;20457598;2125285;22137580;22231121;22252320;22441827;23166507;23481700;23904267;23932780;24097444;24270878;24714562;24997600;25418920;25576301;25645385;25675981;25880248;26154972;26728094;26811146;26992070;27600516;27846572;28228285;28832583;28904123;29242379;29331515;29393594;2944599;29557506;29632046;30315122;30429286;30484775;30779550;30833945;31217245;31530632;31844290;31848261;32157095;32357974;32387766;32502341;32938616;32983136;33091337;33243860;33298915;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34004147;34405274;34762484;34932366;35051231;35318648;35580925;36010968;36241641;36284347;36869814;37340703;38570683;39032490;39504960;40596516;7715707;8253082;8339931;8628262;8668525;9009278;9153304;9188510;9407024;9705341;9832505", "class_list": "", "function": "Component of the integrator complex, a multiprotein complex that terminates RNA polymerase II (Pol II) transcription in the promoter-proximal region of genes (PubMed:33243860, PubMed:34004147, PubMed:39504960). The integrator complex provides a quality checkpoint during transcription elongation by driving premature transcription termination of transcripts that are unfavorably configured for transcriptional elongation: the complex terminates transcription by (1) catalyzing dephosphorylation of the C-terminal domain (CTD) of Pol II subunit POLR2A and SUPT5H/SPT5, (2) degrading the exiting nascent RNA transcript via endonuclease activity and (3) promoting the release of Pol II from bound DNA (PubMed:33243860, PubMed:34004147, PubMed:38570683, PubMed:39504960). The integrator complex is also involved in terminating the synthesis of non-coding Pol II transcripts, such as enhancer RNAs (eRNAs), small nuclear RNAs (snRNAs), telomerase RNAs and long non-coding RNAs (lncRNAs) (PubMed:16239144). Within the integrator complex, INTS6 acts as a molecular adapter that promotes assembly of protein phosphatase 2A (PP2A) subunits to the integrator core complex, promoting recruitment of PP2A to transcription pause-release checkpoint (PubMed:33243860, PubMed:34004147). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the integrator complex (PubMed:23904267). May have a tumor suppressor role; an ectopic expression suppressing tumor cell growth (PubMed:15254679, PubMed:16239144)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. The protein encoded by this gene is a DEAD box protein that is part of a complex that interacts with the C-terminus of RNA polymerase II and is involved in 3' end processing of snRNAs. In addition, this gene is a candidate tumor suppressor and is located in the critical region of loss of heterozygosity (LOH). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2015]., [RefSeq]; Molecular characterization of the tumor suppressor gene in lung carcinoma cells, [RefSeq, PubMed]; Somatic mutations were identified in three patients (3/56, 5%), and one novel polymorphism was identified in 3% of ESCC patients (4/136) and 3% of healthy individuals (6/232). We conclude that DICE1 mutations occur in ESCC but are infrequent., [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": 19, "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": "Q0P664;Q6PJP4;Q9UFK0;Q9Y5M9", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0032039 integrator complex;GO:0160232 INTAC complex", "go_biological_process": "GO:0034243 regulation of transcription elongation by RNA polymerase II;GO:0016180 snRNA processing;GO:0071168 protein localization to chromatin;GO:0034472 snRNA 3'-end processing;GO:0160240 RNA polymerase II transcription initiation surveillance", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "Q9UL03-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5DX21-1", "uniprot_id": [ { "id": "IGS11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5DX21", "type": "external" } ], "mass": 46120.0, "length": 431, "protein_name": "Immunoglobulin superfamily member 11", "gene_name": "IGSF11", "organism": "Human", "refseq_name": "immunoglobulin superfamily member 11 isoform b precursor", "refseq_ac": [ { "id": "NP_001015887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001015887", "type": "external" } ], "gene_names_uniprotkb": "IGSF11; BTIGSF; CXADRL1; VSIG3", "gene_names_refseq": "BT-IgSF; BTIGSF; CT119; CXADRL1; IGSF11; Igsf13; VSIG3", "protein_names_uniprotkb": "Immunoglobulin superfamily member 11; Brain and testis-specific immunoglobulin superfamily protein; Bt-IGSF; IgSF11; V-set and immunoglobulin domain-containing protein 3", "protein_names_refseq": "CXADR like 1; V-set and immunoglobulin domain containing 3; V-set and immunoglobulin domain-containing protein 3; brain and testis-specific immunoglobin superfamily protein; brain and testis-specific immunoglobulin superfamily protein; cancer/testis antigen 119; immunoglobulin superfamily member 11 isoform b precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:152404)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;12207903;12851705;15795899;16108831;26595655;28657654;30220083;32157095;33592498;33841409;34491997;35254053;35494241", "class_list": "", "function": "Cell adhesion-inducing function of BT-IgSF suggests a role of the cell surface molecule in the development/function of the central nervous system and spermatogenesis, [RefSeq, PubMed]; Concerted role for IgSF11 and PSD-95 in the regulation of AMPAR-mediated synaptic transmission and plasticity., [RefSeq, PubMed]; Functions as a cell adhesion molecule through homophilic interaction. Stimulates cell growth., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; IGSF11 is a good candidate of cancer-testis antigen. Furthermore, suppression of IGSF11 by siRNA retarded the growth of gastric cancer cells., [RefSeq, PubMed]; IGSF11 is an immunoglobulin (Ig) superfamily member that is preferentially expressed in brain and testis. It shares significant homology with coxsackievirus and adenovirus receptor (CXADR; MIM 602621) and endothelial cell-selective adhesion molecule (ESAM).[supplied by OMIM, Apr 2005]., [RefSeq]; IGSF11 is required for pericentric heterochromatin dissociation during meiotic diplotene. Publication Status: Online-Only, [RefSeq, PubMed]; Molecular cloning of BT-IgSF which is preferentially expressed by brain and testis, [RefSeq, PubMed]; Structural Basis of VSIG3: The Ligand for VISTA. Publication Status: Online-Only, [RefSeq, PubMed]; This study shows that VSIG-3 as a ligand of VISTA inhibits human T-cell function, [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": 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": 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": "C9JZN0;Q8N4F1;Q8N7T8;Q8NDD2", "ec_number_list": [], "go_molecular_function": "GO:0035255 ionotropic glutamate receptor binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0045202 synapse", "go_biological_process": "GO:1900273 positive regulation of long-term synaptic potentiation;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:1905606 regulation of presynapse assembly;GO:0099537 trans-synaptic signaling;GO:0007155 cell adhesion", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q5DX21-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86YT9-1", "uniprot_id": [ { "id": "JAML_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86YT9", "type": "external" } ], "mass": 44339.0, "length": 394, "protein_name": "Junctional adhesion molecule-like", "gene_name": "JAML", "organism": "Human", "refseq_name": "junctional adhesion molecule-like isoform 1 precursor", "refseq_ac": [ { "id": "NP_001091996", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091996", "type": "external" } ], "gene_names_uniprotkb": "JAML; AMICA1; PRO1387", "gene_names_refseq": "AMICA1; AMICA; CREA7-1; CREA7-4; Gm638; JAML", "protein_names_uniprotkb": "Junctional adhesion molecule-like; Adhesion molecule interacting with CXADR antigen 1; Dendritic cell-specific protein CREA7-1", "protein_names_refseq": "adhesion molecule AMICA; adhesion molecule interacting with CXADR antigen 1; adhesion molecule, interacts with CXADR antigen 1; dendritic-cell specific protein CREA7-1; dendritic-cell specific protein CREA7-4; junctional adhesion molecule-like isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:120425); (R-HSA-198933); (R-HSA-202733)", "pathway_count": 3, "publication_count": 169, "publication_id_list": "10499918;10606205;10746781;10764623;11207550;11237011;11256994;11265639;11489943;11513152;11556966;11564780;11779189;11807247;11812992;11857637;11858820;11861603;11955593;11955595;11955599;12070135;12208882;12213321;12469115;12483297;12588680;12782713;12869515;12975309;14529530;14615387;14719373;14970179;15000751;15034010;15136729;15155468;15187158;15304001;15340161;15528364;15534202;15541655;15580655;15607800;15681301;15721307;15778510;15781451;15800062;15851719;15864273;1591491;16014749;16091383;16129954;16258728;16297198;16339513;16380601;16551255;16585556;16691243;16737824;16737840;16754721;16783819;16893496;16904340;16928187;17045824;17057721;17064312;17099249;17116209;17167768;17172599;17237375;17322099;17337780;17379836;17442946;17452516;17505016;17525755;17563375;17580308;17600130;17615384;17625065;18031695;18037897;18055229;18209062;18234675;18593354;18948633;19064666;19149696;19279206;19359216;19592130;20730098;21193412;21241660;21659548;21800138;21841309;21877119;22396535;23695528;23929856;23945545;24043627;24190977;24305946;24764293;2538457;25703557;25716998;26154972;26284469;26300885;26811146;27543614;27862975;28832583;29242379;29493099;29557506;29769354;29786170;30459171;31154438;31844290;31848261;31998317;32157095;32983136;34087483;35051231;35580925;35672776;36284347;37069006;38570084;38625487;468991;7509040;7521878;7531291;7542404;8163559;8166770;8178173;8314844;8995416;9052782;9169774;9242610;9285412;9295288;9314561;9382878;9693095;9700512;9730896;9763524", "class_list": "", "function": "Expressed on leukocytes with a possible role in leukocyte transmigration, [RefSeq, PubMed]; Integrin activation is required for the dissociation of JAM-L-VLA-4 complexes and the accumulation of functional JAM-L dimers, which indicates that the leukocyte integrin VLA-4 controls JAM-L function in cis by controlling its dimerization state., [RefSeq, PubMed]; JAML inhibits colorectal carcinogenesis by modulating the tumor immune microenvironment., [RefSeq, PubMed]; JAML promotes the antitumor role of tumor-resident CD8[+] T cells by facilitating their innate-like function in human lung cancer., [RefSeq, PubMed]; Junctional adhesion molecule-like protein as a novel target for kaempferol to ameliorate lung adenocarcinoma., [RefSeq, PubMed]; Junctional adhesion molecule-like protein promotes tumor progression via the Wnt/beta-catenin signaling pathway in lung adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Transmembrane protein of the plasma membrane of leukocytes that control their migration and activation through interaction with CXADR, a plasma membrane receptor found on adjacent epithelial and endothelial cells. The interaction between both receptors mediates the activation of gamma-delta T-cells, a subpopulation of T-cells residing in epithelia and involved in tissue homeostasis and repair. Upon epithelial CXADR-binding, JAML induces downstream cell signaling events in gamma-delta T-cells through PI3-kinase and MAP kinases. It results in proliferation and production of cytokines and growth factors by T-cells that in turn stimulate epithelial tissues repair. It also controls the transmigration of leukocytes within epithelial and endothelial tissues through adhesive interactions with epithelial and endothelial CXADR., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "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": 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": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 10, "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": "B0YIV1;B0YIV2;Q496M1;Q5DTC6;Q7Z499;Q8N9I7;Q8NF70", "ec_number_list": [], "go_molecular_function": "GO:0005178 integrin binding;GO:0042803 protein homodimerization activity;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005923 bicellular tight junction;GO:0070161 anchoring junction", "go_biological_process": "GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;GO:0046629 gamma-delta T cell activation;GO:0060054 positive regulation of epithelial cell proliferation involved in wound healing;GO:0030593 neutrophil chemotaxis;GO:0072672 neutrophil extravasation", "synthesized_glycan_count": 0, "hit_score": 17.3, "record_id": "Q86YT9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H6K5-1", "uniprot_id": [ { "id": "PRR36_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H6K5", "type": "external" } ], "mass": 132748.0, "length": 1346, "protein_name": "Proline-rich protein 36", "gene_name": "PRR36", "organism": "Human", "refseq_name": "proline-rich protein 36", "refseq_ac": [ { "id": "NP_001177396", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177396", "type": "external" } ], "gene_names_uniprotkb": "PRR36", "gene_names_refseq": "PRR36", "protein_names_uniprotkb": "Proline-rich protein 36", "protein_names_refseq": "proline-rich protein 36", "tax_id": 9606, "disease": "", "pathway": " (hsa:80164)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;19690332;21406692;23481700;25576301;28514659;31844290;32387766;32938616;33968037;34019948;34087483;34509645;35051231;35580925;37217939", "class_list": "", "function": "This gene encodes a large protein of unknown function that contains internal regions of low complexity sequence. Alternative splicing results in multiple transcript variants. The transcript structure of the protein-coding variant at this locus is conserved between human and mouse. [provided by RefSeq, Oct 2013]., [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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 39, "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": "A0A087WZ52;Q9H3X1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q9H6K5-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01877-2", "uniprot_id": [ { "id": "IGHA2_HUMAN", "url": "https://www.uniprot.org/uniprot/P01877", "type": "external" } ], "mass": 42334.0, "length": 391, "protein_name": "Immunoglobulin heavy constant alpha 2", "gene_name": "IGHA2", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGHA2", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin heavy constant alpha 2; Ig alpha-2 chain C region BUT; Ig alpha-2 chain C region LAN; Ig alpha-2 chain C region", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-202733); (R-HSA-2168880)", "pathway_count": 2, "publication_count": 134, "publication_id_list": "40667337;10.1101/2023.09.13.557529;1008494;10381560;10606205;10764623;11196644;11207550;11256994;11340299;11564780;11779189;11812992;11877257;12070135;12208882;12469115;1252417;12782713;13342742;13472068;14529530;14615387;14760718;15000751;15084671;15448162;15528364;15542058;15681301;15697213;15721307;1591491;15947085;16046400;16189277;16258728;16297198;1646599;16585556;16691243;16737840;16740002;16778136;16783819;17008602;17050773;17064312;17099249;17102136;17116209;17167768;17172599;17322099;17379836;17442946;17452516;17505016;17525755;17563375;17576170;17580308;17600130;17615384;17625065;17845074;18514042;18556779;18780401;19139490;19279206;19324878;19650691;1979064;20030399;20176268;20430887;20920479;21193412;21659548;22158414;2241915;22492620;22922649;23945545;24043627;24530628;24764293;24766575;24841998;2538457;26510530;2806549;2833500;286295;28832583;29242379;29671580;29741879;29786170;30237853;30659065;32029686;32125861;34725484;3891754;4074707;416441;4172099;4327491;468991;496916;5135507;6421489;6480598;6849882;7263686;7287740;7378053;7509040;7521878;8163559;8166770;8314844;8424694;8855948;9052782;9169774;9242610;9295288;9382878;9693095;971416;9763524", "class_list": "", "function": "Constant region of immunoglobulin heavy chains. 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). Ig alpha is the major immunoglobulin class in body secretions (PubMed:2241915)., [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": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 125, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A0A075B6N7;A0A286YEY5", "ec_number_list": [], "go_molecular_function": "GO:0003823 antigen binding", "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:0006955 immune response;GO:0019731 antibacterial humoral response;GO:0002250 adaptive immune response;GO:0050853 B cell receptor signaling pathway;GO:0003094 glomerular filtration", "synthesized_glycan_count": 0, "hit_score": 26.6, "record_id": "P01877-2", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BQ13-1", "uniprot_id": [ { "id": "KCD14_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BQ13", "type": "external" } ], "mass": 29591.0, "length": 255, "protein_name": "BTB/POZ domain-containing protein KCTD14", "gene_name": "KCTD14", "organism": "Human", "refseq_name": "BTB/POZ domain-containing protein KCTD14 isoform 2", "refseq_ac": [ { "id": "NP_001269335", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269335", "type": "external" } ], "gene_names_uniprotkb": "KCTD14", "gene_names_refseq": "KCTD14", "protein_names_uniprotkb": "BTB/POZ domain-containing protein KCTD14", "protein_names_refseq": "BTB/POZ domain-containing protein KCTD14 isoform 2; BTB/POZ domain-containing protein KCTD14; potassium channel tetramerisation domain containing 14", "tax_id": 9606, "disease": "", "pathway": " (hsa:65987)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "24714562;25892735;29393594;29557506;29769354;30429286;30779550;32938616;32983136;33968037;33981976;34932366;35580925;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": 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": "B2R9R8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0051260 protein homooligomerization", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q9BQ13-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92543-1", "uniprot_id": [ { "id": "SNX19_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92543", "type": "external" } ], "mass": 108598.0, "length": 992, "protein_name": "Sorting nexin-19", "gene_name": "SNX19", "organism": "Human", "refseq_name": "sorting nexin-19 isoform 9", "refseq_ac": [ { "id": "NP_001334853", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001334853", "type": "external" } ], "gene_names_uniprotkb": "SNX19; KIAA0254", "gene_names_refseq": "CHET8; SNX19", "protein_names_uniprotkb": "Sorting nexin-19", "protein_names_refseq": "sorting nexin-19 isoform 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:399979)", "pathway_count": 1, "publication_count": 56, "publication_id_list": "11237011;16273344;17975119;18073581;24366607;24715725;24843546;25418920;25505266;25892735;26811146;26992070;27600516;27846572;27862975;27920218;28228285;28832583;28834231;28904123;29242379;29351928;29393594;29557506;29632046;29769354;29786170;30429286;30635639;30779550;31154438;31530632;31844290;31848261;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33649454;33936100;33968037;34185709;34315878;34509645;35051231;35318648;35580925;37938771", "class_list": "", "function": "Islet antigen-2 (IA-2) is an autoantigen in type 1 diabetes and plays a role in insulin secretion. IA-2 is found in dense-core secretory vesicles and interacts with the product of this gene, a sorting nexin. In mouse pancreatic beta-cells, the encoded protein influenced insulin secretion by stabilizing the number of dense-core secretory vesicles. [provided by RefSeq, Dec 2016]., [RefSeq]; Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Plays a role in intracellular vesicle trafficking and exocytosis (PubMed:24843546). May play a role in maintaining insulin-containing dense core vesicles in pancreatic beta-cells and in preventing their degradation. May play a role in insulin secretion (PubMed:24843546). Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)) (By similarity)., [UniProtKB, PubMed, UniProtKB]; SNX19 restricts endolysosome motility through contacts with the endoplasmic reticulum. Publication Status: Online-Only, [RefSeq, PubMed]; Schizophrenia risk variants influence multiple classes of transcripts of sorting nexin 19 (SNX19)., [RefSeq, PubMed]; Single molecule in situ hybridization reveals distinct localizations of schizophrenia risk-related transcripts SNX19 and AS3MT in human brain., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 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": "E9PKB9;Q8IV55", "ec_number_list": [], "go_molecular_function": "GO:0032266 phosphatidylinositol-3-phosphate binding;GO:0035091 phosphatidylinositol binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0031901 early endosome membrane", "go_biological_process": "GO:0002062 chondrocyte differentiation;GO:0006887 exocytosis;GO:0030073 insulin secretion;GO:1990502 dense core granule maturation", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q92543-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15042-1", "uniprot_id": [ { "id": "SR140_HUMAN", "url": "https://www.uniprot.org/uniprot/O15042", "type": "external" } ], "mass": 118292.0, "length": 1029, "protein_name": "U2 snRNP-associated SURP motif-containing protein", "gene_name": "U2SURP", "organism": "Human", "refseq_name": "U2 snRNP-associated SURP motif-containing protein isoform 1", "refseq_ac": [ { "id": "NP_001073884", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073884", "type": "external" } ], "gene_names_uniprotkb": "U2SURP; KIAA0332; SR140", "gene_names_refseq": "SR140; U2SURP; fSAPa", "protein_names_uniprotkb": "U2 snRNP-associated SURP motif-containing protein; 140 kDa Ser/Arg-rich domain protein; U2-associated protein SR140", "protein_names_refseq": "140 kDa Ser/Arg-rich domain protein; Ser/Arg-rich domain protein, 140 kDa; U2 snRNP-associated SURP motif-containing protein isoform 1; U2 snRNP-associated SURP motif-containing protein; U2-associated SR140 protein; U2-associated protein SR140; functional spliceosome-associated protein a", "tax_id": 9606, "disease": "", "pathway": " (hsa:23350); (R-HSA-72163); (R-HSA-9770562); (R-HSA-9918481); (R-HSA-9943411)", "pathway_count": 5, "publication_count": 245, "publication_id_list": "10.1101/2023.09.13.557529;10199952;10669729;10882114;11014198;11060040;11101529;11233976;11237011;11747608;11991638;12176931;12234937;12411573;12414731;12477934;12682017;14519844;14625303;14713954;14749727;14762106;15037765;15084397;15565158;15647753;16263726;16314458;16372014;16809785;17081983;17095540;17128255;17332742;17433364;17606899;17717186;18042460;18288197;18322460;18452278;18593880;18669648;18767875;19103666;19165350;19217410;19413330;19415658;19536130;19608861;19651622;19664994;19664995;19690332;20068231;20112406;20211137;20423332;20695905;20858735;20980672;21295486;21406692;21536652;2176635;21911577;22046413;22110043;22365833;22424782;22569126;22813749;22922743;22959432;22961380;23186163;23222130;23236153;23301498;23345524;23481700;23874216;24076191;24149845;24196718;24275569;24304693;24448447;24714562;24715725;24737827;24914973;25218447;25301780;25301781;25418920;25505266;25555158;25576301;2558966;25755297;25810538;25892735;26092250;26154972;26375851;26385511;26420826;26758079;26811146;26929215;26969736;26992070;27108190;27377154;27397612;27459055;27600516;27661449;27683217;27846572;27869121;27920218;28062851;28063628;28076346;28096519;28218747;28228285;28502770;28510447;28514659;28649982;28781166;28832583;28834231;28855257;28904123;28911096;29186539;29242379;29274231;29301961;29360106;29361316;29393594;29493099;29508533;29557506;29632046;29632711;2963332;29769354;29786170;29902443;30139799;30257008;30315122;30315277;30484775;30524438;30599162;30705154;30728453;30765414;30975767;30977118;31154438;31217245;31409651;31844290;31848261;32157095;32161166;32179686;32265295;32329775;32357974;32387766;32494006;32502341;32522876;32816001;32897882;32938616;32983136;33091337;33123756;33141586;33177556;33214551;33243851;33298915;33392160;33446560;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34301950;34357683;34405274;34433824;34509645;34561969;34822310;35051231;35132862;35138101;35177536;35215846;35318648;35385551;35561310;35580925;36010968;36215666;36241641;36284347;36907504;37217939;3757028;37938771;38665916;40596516;40914422;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9659921;9671485;9701291;9731529", "class_list": "", "function": "MYC-driven U2SURP regulates alternative splicing of SAT1 to promote triple-negative breast cancer progression., [RefSeq, PubMed]; Study observed that CHERP and its binding partner SR140 are significantly upregulated in human clinical colorectal cancer tissues (CRC) and clarified how CHERP/SR140 exert an oncogenic role in CRC development partially through regulating expression of UPF3A variants., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 30, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "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": "A0PJ60;Q0D2M1;Q2NKQ7;Q9BR70", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005686 U2 snRNP", "go_biological_process": "GO:0006396 RNA processing", "synthesized_glycan_count": 0, "hit_score": 25.2, "record_id": "O15042-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IUD2-1", "uniprot_id": [ { "id": "RB6I2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IUD2", "type": "external" } ], "mass": 128086.0, "length": 1116, "protein_name": "ELKS/Rab6-interacting/CAST family member 1", "gene_name": "ERC1", "organism": "Human", "refseq_name": "ELKS/Rab6-interacting/CAST family member 1 isoform delta", "refseq_ac": [ { "id": "NP_829883", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_829883", "type": "external" } ], "gene_names_uniprotkb": "ERC1; ELKS; KIAA1081; RAB6IP2", "gene_names_refseq": "Cast2; ELKS; ERC-1; ERC1; RAB6IP2", "protein_names_uniprotkb": "ELKS/Rab6-interacting/CAST family member 1; ERC-1; Rab6-interacting protein 2", "protein_names_refseq": "ELKS/Rab6-interacting/CAST family member 1 isoform delta; RAB6 interacting protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:23085)", "pathway_count": 1, "publication_count": 76, "publication_id_list": "10.1101/2023.09.13.557529;10337992;11237011;12203787;12923177;15218148;16964243;18669648;19664994;19690332;20068231;21406692;23186163;23481700;24120883;24275569;24714562;24715725;25576301;26375851;26992070;27224062;27600516;28228285;28411811;28510447;28832583;29088863;29242379;29393594;29493099;29557506;29632046;29786170;30315122;30379171;30429286;30779550;30833945;31154438;31222486;31373491;31530632;31844290;31848261;31998317;32157095;32357974;32387766;32488085;32574038;32938616;32983136;33214551;33298915;33592498;33912179;33968037;33981976;34019948;34087483;34211107;34509645;34561969;34725712;35051231;35580925;36010968;36240223;36241641;36284347;37340703;37437062;38665916;39531497;39534244", "class_list": "", "function": "Analysis of the gene structure of four isoforms (ELKS beta, ELKS gamma, ELKS delta, and ELKS epsilon) in a case of papillary thyroid carcinoma reveal that the isoforms are produced by alternative splicing., [RefSeq, PubMed]; In vitro results indicate that ERC2/CAST, an active zone-specific isoform, interacts with all of the known isoforms of liprin-alpha and that liprin-alpha1 associates with both ERC2 and ERC1b, [RefSeq, PubMed]; Interfering with the ERC1-LL5beta interaction disrupts plasma membrane-Associated platforms and affects tumor cell motility. Publication Status: Online-Only, [RefSeq, PubMed]; Regulatory subunit of the IKK complex. Probably recruits IkappaBalpha/NFKBIA to the complex. May be involved in the organization of the cytomatrix at the nerve terminals active zone (CAZ) which regulates neurotransmitter release. May be involved in vesicle trafficking at the CAZ. May be involved in Rab-6 regulated endosomes to Golgi transport., [UniProtKB, PubMed]; The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due to the translocation t(10;12)(q11;p13) in thyroid papillary carcinoma. 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": 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": 16, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 33, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "A2RU77;A7E295;D3DUP7;D3DUP8;Q6NVK2;Q8IUD3;Q8IUD4;Q8IUD5;Q8NAS1;Q9NXN5;Q9UIK7;Q9UPS1", "ec_number_list": [], "go_molecular_function": "GO:0098882 structural constituent of presynaptic active zone;GO:0045296 cadherin binding;GO:0031267 small GTPase binding;GO:0030165 PDZ domain binding", "go_cellular_component": "GO:0098831 presynaptic active zone cytoplasmic component;GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0045202 synapse", "go_biological_process": "GO:0048790 maintenance of presynaptic active zone structure;GO:0015031 protein transport;GO:0006355 regulation of DNA-templated transcription;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0042147 retrograde transport, endosome to Golgi", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q8IUD2-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P996-1", "uniprot_id": [ { "id": "PDXD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P996", "type": "external" } ], "mass": 86707.0, "length": 788, "protein_name": "Pyridoxal-dependent decarboxylase domain-containing protein 1", "gene_name": "LOC124900586; PDXDC1", "organism": "Human", "refseq_name": "pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001272373", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001272373", "type": "external" } ], "gene_names_uniprotkb": "LOC124900586; PDXDC1; KIAA0251; LOC124900586", "gene_names_refseq": "LP8165; PDXDC1", "protein_names_uniprotkb": "Pyridoxal-dependent decarboxylase domain-containing protein 1; 4.1.1.-", "protein_names_refseq": "pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 2; pyridoxal-dependent decarboxylase domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:23042)", "pathway_count": 1, "publication_count": 81, "publication_id_list": "10.1101/2023.09.13.557529;11237011;16964243;17081983;17287340;17525332;18669648;19651622;20068231;21406692;22028470;22544926;23186163;23481700;24275569;24714562;24715725;25502872;25576301;25645385;26154972;26728094;26811146;26992070;28467828;28485732;28904123;29351928;29437277;29493099;29557506;30315122;30626607;30779550;30833945;31154438;31324691;31530632;31844290;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32644145;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33537174;33592498;33691108;33912179;33936100;33968037;33981976;34078123;34087483;34171305;34211107;34357683;34405274;34433824;34509645;34561969;34932366;35051231;35154160;35251023;35580925;36010968;36215666;36241641;36284347;40914422", "class_list": "", "function": "Genome-wide analysis of high-risk primary brain cancer pedigrees identifies PDXDC1 as a candidate brain cancer predisposition gene., [RefSeq, PubMed]; This study's results suggest that Pdxdc1 may regulate acoustic pre-pulse inhibition and could be a good target for further investigation as a potential treatment for schizophrenia. 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": 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": 20, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "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": "B4DR55;B4DSL3;E7EMH5;E7EPL4;H3BNZ1;O00236;Q4F6X7;Q6PID7;Q86YF1;Q8N4Q9;Q8TBS5", "ec_number_list": [], "go_molecular_function": "GO:0030170 pyridoxal phosphate binding;GO:0045296 cadherin binding;GO:0016831 carboxy-lyase activity;GO:0016829 lyase activity;GO:0016830 carbon-carbon lyase activity", "go_cellular_component": "GO:0005794 Golgi apparatus", "go_biological_process": "GO:0019752 carboxylic acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "Q6P996-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43929-1", "uniprot_id": [ { "id": "ORC4_HUMAN", "url": "https://www.uniprot.org/uniprot/O43929", "type": "external" } ], "mass": 50377.0, "length": 436, "protein_name": "Origin recognition complex subunit 4", "gene_name": "ORC4", "organism": "Human", "refseq_name": "origin recognition complex subunit 4 isoform 1", "refseq_ac": [ { "id": "NP_001177808", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177808", "type": "external" } ], "gene_names_uniprotkb": "ORC4; ORC4L", "gene_names_refseq": "ORC4L; ORC4P; ORC4", "protein_names_uniprotkb": "Origin recognition complex subunit 4", "protein_names_refseq": "origin recognition complex subunit 4 isoform 1; origin recognition complex, subunit 4 homolog", "tax_id": 9606, "disease": "Meier-Gorlin syndrome (Disease Ontology:DOID:0060306); Meier-Gorlin syndrome 2 (Disease Ontology:DOID:0080513)", "pathway": " (hsa:5000); (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": 142, "publication_id_list": "10051570;10373362;10373557;10460412;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;20010161;20068231;21358631;21358632;21555516;22398447;22405012;22427655;22751019;23187890;23481700;23603117;23795651;23851460;24003239;24129315;24366607;24714562;24989122;25231993;25689043;25762138;25784553;26139588;26154972;26222030;26375851;26728094;26992070;27249176;27920218;28112645;28218747;28228285;28855257;28904123;29036220;29437277;29493099;29508533;29557506;29786170;29899147;30315122;30410026;30429286;30484775;30779550;31217245;31530632;31844290;32157095;32357974;32387766;32488085;32502341;32808929;32848132;32897882;32938616;32983136;33141586;33298899;33298915;33537174;33592498;33801762;33936100;33968037;34087483;34131285;34509645;34561969;34932366;35051231;35561310;35580925;36010968;36215666;36241641;37938771;40914422;8196638;8943031;9278511;9278512;9353276;9635433;9660782", "class_list": "", "function": "Biochemical characterization of the mouse homolog, [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. Binds histone H3 and H4 trimethylation marks H3K9me3, H3K27me3 and H4K20me3., [UniProtKB, PubMed]; Since the site of one of the missense mutations in the human ORC4 alleles is conserved between humans and yeast, we sought to determine in what way this single amino acid change affects the process of chromosome replication, by introducing the comparable mutation into yeast (orc4Y232C). Publication Status: Online-Only, [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. This gene encodes a subunit of the ORC complex. Several alternatively spliced transcript variants, some of which encode the same protein, have been reported for this gene. [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": 2, "reported_mutagensis": 3, "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": "B7Z3D0;B7Z5F1;D3DP86;F5H069;Q96C42", "ec_number_list": [], "go_molecular_function": "GO:0003688 DNA replication origin binding;GO:0005524 ATP binding;GO:0000166 nucleotide binding;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005664 nuclear origin of replication recognition complex", "go_biological_process": "GO:0051258 protein polymerization;GO:0006270 DNA replication initiation;GO:0040038 polar body extrusion after meiotic divisions;GO:0006260 DNA replication", "synthesized_glycan_count": 0, "hit_score": 14.5, "record_id": "O43929-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95825-1", "uniprot_id": [ { "id": "QORL1_HUMAN", "url": "https://www.uniprot.org/uniprot/O95825", "type": "external" } ], "mass": 38697.0, "length": 349, "protein_name": "Ferry endosomal RAB5 effector complex subunit 4", "gene_name": "CRYZL1", "organism": "Human", "refseq_name": "ferry endosomal RAB5 effector complex subunit 4", "refseq_ac": [ { "id": "NP_665857", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_665857", "type": "external" } ], "gene_names_uniprotkb": "CRYZL1; 4P11; FERRY4", "gene_names_refseq": "4P11; CRYZL1; FERRY4; Fy-4; QOH-1", "protein_names_uniprotkb": "Ferry endosomal RAB5 effector complex subunit 4; Crystallin zeta like 1; Fy-4; Protein 4P11; QOH-1; Quinone oxidoreductase homolog 1", "protein_names_refseq": "crystallin, zeta (quinone reductase)-like 1; ferry endosomal RAB5 effector complex subunit 4; protein 4P11; quinone oxidoreductase homolog 1; quinone oxidoreductase-like protein 1; quinone reductase-like 1; zeta-crystallin homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:9946)", "pathway_count": 1, "publication_count": 64, "publication_id_list": "10191096;11237011;17497241;22424782;23481700;24715725;25645385;25892735;26154972;26992070;27600516;27846572;27920218;28063628;28228285;28514659;28832583;28834231;28904123;29242379;29493099;29557506;29632046;29769354;29786170;30315122;30410026;30429286;30524438;30779550;31217245;31844290;31848261;31937595;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33717175;33912179;33936100;33968037;34185709;34211107;34357683;34509645;35051231;36010968;36241641;36284347;37267905;37267906;37938771;8760827", "class_list": "", "function": "Component of the FERRY complex (Five-subunit Endosomal Rab5 and RNA/ribosome intermediary) (PubMed:37267905, PubMed:37267906). The FERRY complex directly interacts with mRNAs and RAB5A, and functions as a RAB5A effector involved in the localization and the distribution of specific mRNAs most likely by mediating their endosomal transport. The complex recruits mRNAs and ribosomes to early endosomes through direct mRNA-interaction (PubMed:37267905)., [UniProtKB, PubMed, PubMed]; Data show that human and yeast zeta-crystallins bind AU-rich elements in RNA., [RefSeq, PubMed]; This gene encodes a protein that has sequence similarity to zeta crystallin, also known as quinone oxidoreductase. This zeta crystallin-like protein also contains an NAD(P)H binding site. Alternatively spliced transcript variants have been observed but their full-length nature has not been completely 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": 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": "B2RDX1;B3KQ77;Q96DY0;Q9NVY7", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005769 early endosome;GO:0005829 cytosol", "go_biological_process": "GO:1904580 regulation of intracellular mRNA localization", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "O95825-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y616-1", "uniprot_id": [ { "id": "IRAK3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y616", "type": "external" } ], "mass": 67767.0, "length": 596, "protein_name": "Interleukin-1 receptor-associated kinase 3", "gene_name": "IRAK3", "organism": "Human", "refseq_name": "interleukin-1 receptor-associated kinase 3 isoform b", "refseq_ac": [ { "id": "NP_001135995", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135995", "type": "external" } ], "gene_names_uniprotkb": "IRAK3", "gene_names_refseq": "ASRT5; IRAK3; IRAKM", "protein_names_uniprotkb": "Interleukin-1 receptor-associated kinase 3; IL-1 receptor-associated kinase M; IRAK-3; IRAK-M; Inactive IL-1 receptor-associated kinase 3", "protein_names_refseq": "IL-1 receptor-associated kinase M; inactive IL-1 receptor-associated kinase 3; interleukin-1 receptor-associated kinase 3 isoform b", "tax_id": 9606, "disease": "osteoporosis (Disease Ontology:DOID:11476); asthma (Disease Ontology:DOID:2841); tuberculosis (Disease Ontology:DOID:399); melioidosis (Disease Ontology:DOID:5052); type 1 diabetes mellitus (Disease Ontology:DOID:9744); asthma-related traits, susceptibility to, 5 (MONDO:MONDO:0012607)", "pathway": " (hsa:11213); (R-HSA-166058); (R-HSA-9020702)", "pathway_count": 3, "publication_count": 116, "publication_id_list": "10.1101/2023.09.13.557529;10075690;10383454;10465784;10514433;10702308;10854325;10882101;10918611;11094434;11237011;11544529;11960013;12138165;12140561;12297423;12447441;12447442;12496252;12538665;12724322;12791687;12860405;14592437;14625308;15585605;15728517;15917247;15944945;16024789;16432636;16439361;16751103;17135271;17141195;17344846;17485511;17503328;17507369;17675297;17726518;17878161;17890055;17997719;18070880;18070982;18180283;1828071;1833184;18438411;18829464;19224918;19264966;19369195;19498957;19509286;19592493;19592497;19903815;20485341;20966070;2139180;2147937;21606490;22454496;23481700;24840642;25880248;26992070;27466718;28063628;28218747;28228285;28832583;28904123;29437277;2946959;29632046;29686383;30001391;30315122;30379171;30784271;31154438;31844290;32357974;32387766;32488085;32897882;32983136;33238146;33298915;33392160;33912179;33968037;34357683;34509645;35051231;35580925;36010968;37239919;38169195;38838135;39053866;7628694;8327496;8332913;8599092;8837778;9008162;9346484;9371760;9430229;9859996;9990852;9990853", "class_list": "", "function": "IRAK-M is rapidly upregulated in human monocytes pre-exposed to tumor cells and could be involved in deactivation of tumor-infiltrating monocytes mediated by tumor cells., [RefSeq, PubMed]; Importance of serum IRAK3 as a biochemical marker in relation to severity and neurological outcome of human severe traumatic brain injury: A prospective longitudinal cohort study., [RefSeq, PubMed]; Methylation of Interleukin-1 receptor-associated kinase-3 and the risk of multiple sclerosis relapse/activity., [RefSeq, PubMed]; Mutations in the Vicinity of the IRAK3 Guanylate Cyclase Center Impact Its Subcellular Localization and Ability to Modulate Inflammatory Signaling in Immortalized Cell Lines. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Putative inactive protein kinase which regulates signaling downstream of immune receptors including IL1R and Toll-like receptors (PubMed:10383454, PubMed:29686383). Inhibits dissociation of IRAK1 and IRAK4 from the Toll-like receptor signaling complex by either inhibiting the phosphorylation of IRAK1 and IRAK4 or stabilizing the receptor complex (By similarity). Upon IL33-induced lung inflammation, positively regulates expression of IL6, CSF3, CXCL2 and CCL5 mRNAs in dendritic cells (PubMed:29686383)., [UniProtKB, UniProtKB, PubMed, PubMed]; Replenishing IRAK-M expression in retinal pigment epithelium attenuates outer retinal degeneration., [RefSeq, PubMed]; This gene encodes a member of the interleukin-1 receptor-associated kinase protein family. Members of this family are essential components of the Toll/IL-R immune signal transduction pathways. This protein is primarily expressed in monocytes and macrophages and functions as a negative regulator of Toll-like receptor signaling. Mutations in this gene are associated with a susceptibility to asthma. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]., [RefSeq]; Thus, our data indicate that IRAK-M could play a pivotal role in the process of endotoxin tolerance in human monocytes and provide evidence that PI3K is involved in regulating its 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": 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": 5, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 6, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DQ57", "ec_number_list": [], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0019901 protein kinase binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:0001960 negative regulation of cytokine-mediated signaling pathway;GO:0070498 interleukin-1-mediated signaling pathway;GO:0006468 protein phosphorylation;GO:0032496 response to lipopolysaccharide;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 12.1, "record_id": "Q9Y616-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P20839-1", "uniprot_id": [ { "id": "IMDH1_HUMAN", "url": "https://www.uniprot.org/uniprot/P20839", "type": "external" } ], "mass": 55406.0, "length": 514, "protein_name": "Inosine-5'-monophosphate dehydrogenase 1", "gene_name": "IMPDH1", "organism": "Human", "refseq_name": "inosine-5'-monophosphate dehydrogenase 1 isoform a", "refseq_ac": [ { "id": "NP_000874", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000874", "type": "external" } ], "gene_names_uniprotkb": "IMPDH1; IMPD1; IMPDH", "gene_names_refseq": "IMPD1; IMPDH-I; IMPDH1; IMPD; LCA11; RP10; sWSS2608", "protein_names_uniprotkb": "Inosine-5'-monophosphate dehydrogenase 1; 1.1.1.205; IMP dehydrogenase 1; IMPD 1; IMPDH 1; IMPDH-I", "protein_names_refseq": "IMP (inosine 5'-monophosphate) dehydrogenase 1; IMP (inosine monophosphate) dehydrogenase 1; IMPD 1; IMPDH 1; inosine-5'-monophosphate dehydrogenase 1 isoform a; inosine-5'-monophosphate dehydrogenase 1", "tax_id": 9606, "disease": "Leber congenital amaurosis 11 (Disease Ontology:DOID:0110216); retinitis pigmentosa 10 (Disease Ontology:DOID:0110388); retinitis pigmentosa (Disease Ontology:DOID:10584)", "pathway": " (hsa:3614); (R-HSA-6798695); (R-HSA-73817); (R-HSA-9679191); (R-HSA-9748787)", "pathway_count": 5, "publication_count": 139, "publication_id_list": "10087012;10840050;10958654;11096114;11237011;11381136;11875049;11875050;12435799;12450384;12697733;14529546;14766016;15028279;15747503;15786719;15850391;1592113;16115318;16384941;16522641;16530731;16717136;17224163;17301077;17662961;17996297;18388293;18609073;1967654;1969416;197968;20216118;20223979;211390;21320556;2147474;21723252;2183217;21960835;22401777;22444596;22552008;22814904;22869377;23096567;23186163;23301498;23481700;23641311;23650620;23816837;24272870;24584101;24715725;24824603;24974183;25576301;25645385;25801024;26002965;26238318;26992070;27600516;28425720;28510447;28514659;28832583;28834231;28904123;29242379;29314611;29393594;29482072;29508533;29557506;29769354;29786170;29789417;29945920;30192525;30201761;30484775;30524438;30779550;30833945;30987408;31048504;31217245;31222486;31530632;31844290;31998317;32157095;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33392160;33592498;33912179;33968037;33981976;34087483;34171305;34229054;34357683;35051231;35580925;36241641;36629054;37259572;38604988;38665916;38733555;40914422;4348202;4726295;5767308;657528;6989049;762062;7706277;7763314;7903306;8089153;8110788;8226881;8366112;8380692;8567683;8670112;8692836;9099726;9132023;942489", "class_list": "", "function": "C-Myc-IMPDH1/2 axis promotes tumourigenesis by regulating GTP metabolic reprogramming., [RefSeq, PubMed]; Catalyzes the conversion of inosine 5'-phosphate (IMP) to xanthosine 5'-phosphate (XMP), the first committed and rate-limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of cell growth. Could also have a single-stranded nucleic acid-binding activity and could play a role in RNA and/or DNA metabolism. It may also have a role in the development of malignancy and the growth progression of some tumors., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, HAMAP, UniProtKB, UniProtKB]; Datasets-Based IMPDH1 Revisited: Heterozygous Missense Variants for Dominant Retinitis Pigmentosa While Truncation Variants Are Likely Non-Pathogenic., [RefSeq, PubMed]; IMPDH1-associated autosomal dominant retinitis pigmentosa: natural history of novel variant Lys314Gln and a comprehensive literature search. Review article, [RefSeq, PubMed]; The Impact of Terminal Peptide Extensions of Retinal Inosine 5 Monophosphate Dehydrogenase 1 Isoforms on their DNA-binding Activities., [RefSeq, PubMed]; The protein encoded by this gene acts as a homotetramer to regulate cell growth. The encoded protein is an enzyme that catalyzes the synthesis of xanthine monophosphate (XMP) from inosine-5'-monophosphate (IMP). This is the rate-limiting step in the de novo synthesis of guanine nucleotides. Defects in this gene are a cause of retinitis pigmentosa type 10 (RP10). Several transcript variants encoding different isoforms have been found for this gene. [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": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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"https://www.rhea-db.org/rhea/?query=ec:3.5.3.15", "type": "external" }, { "id": "4.1.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.4", "type": "external" } ], "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0000166 nucleotide binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0034774 secretory granule lumen", "go_biological_process": "GO:0006177 GMP biosynthetic process;GO:0006183 GTP biosynthetic process;GO:0097294 'de novo' XMP biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 14.2, "record_id": "P20839-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BX67-1", "uniprot_id": [ { "id": "JAM3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BX67", "type": "external" } ], "mass": 35020.0, "length": 310, "protein_name": "Junctional adhesion molecule C", "gene_name": "JAM3", "organism": "Human", "refseq_name": "junctional adhesion molecule C isoform 2 precursor", "refseq_ac": [ { "id": "NP_001192258", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001192258", "type": "external" } ], "gene_names_uniprotkb": "JAM3; PRO1868", "gene_names_refseq": "JAM-2; JAM-3; JAM-C; JAM3; JAMC", "protein_names_uniprotkb": "Junctional adhesion molecule C; JAM-2; JAM-3; JAM-C; Junctional adhesion molecule 3", "protein_names_refseq": "junctional adhesion molecule C isoform 2 precursor; junctional adhesion molecule C", "tax_id": 9606, "disease": "sciatic neuropathy (Disease Ontology:DOID:11446); systemic scleroderma (Disease Ontology:DOID:418); porencephaly-microcephaly-bilateral congenital cataract syndrome (MONDO:MONDO:0013394)", "pathway": " (hsa:83700); (R-HSA-202733); (R-HSA-216083)", "pathway_count": 3, "publication_count": 156, "publication_id_list": "10.1101/2023.09.13.557529;10209034;10366422;10438935;10543983;10593924;10605720;10606205;10640428;10673366;10713152;10764623;10811134;10982388;11158588;11207550;11237011;11256994;11518510;11564780;11572855;11590146;11713259;11739175;11779189;11812992;11823489;11944976;11980922;12070135;12208882;12469115;12496264;12585966;12682293;12782713;12807887;12810109;12975309;14529530;14615387;15000751;15194813;15240572;15330449;15340161;15345499;15372036;15383545;15528364;15681301;15713743;15721307;1588291;15899827;1591491;15994945;16002701;16051604;16239428;16258728;16297198;16585556;16691243;16731529;16737840;16754661;16783819;16933105;17064312;17099249;17116209;17167768;17172599;17322099;17339034;17379836;17442946;17452516;17505016;17525755;17563375;17580308;17600130;17615384;17625065;17968485;18710925;18775695;19279206;19349973;19502598;20033473;2010551;20592283;20705068;21109224;21193412;21659548;22539938;22884367;23255084;23345538;23374253;23945545;24043627;24190977;24357068;24764293;2538457;28196865;29557506;31020640;31844290;31848261;32938616;33592498;34171305;34405274;36010968;36461092;37074911;37938771;38124399;38448375;38760803;40307207;468991;7505120;7509040;7521878;7525578;7541634;7542249;7559467;7685013;8118028;8163559;8166770;8314844;8344274;8560266;8798654;8838667;8910476;9052782;9169774;9242610;9251239;9295288;9382878;9443892;9565552;9693095;9763524;9858236", "class_list": "", "function": "Cloning of human junctional adhesion molecule 3 (JAM3) and its identification as the JAM2 counter-receptor., [RefSeq, PubMed]; Downregulation of JAM3 occurs in cholangiocarcinoma by hypermethylation: A potential molecular marker for diagnosis and prognosis., [RefSeq, PubMed]; Epigenetic silencing of JAM3 promotes esophageal cancer development by activating Wnt signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Facilitates JAM2 interaction with alpha4beta1 GeneRIF: Functions as a facilitator for JAM2/alpha4beta1 interactions, [RefSeq, PubMed]; High-grade cervical lesions diagnosed by JAM3/PAX1 methylation in high-risk human papillomavirus-infected patients., [RefSeq, PubMed]; JAM3 is a strong candidate gene for hypoplastic left heart syndrome, [RefSeq, PubMed]; JAM3 promotes cervical cancer metastasis by activating the HIF-1alpha/VEGFA pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Junctional adhesion protein that mediates heterotypic cell-cell interactions with its cognate receptor JAM2 to regulate different cellular processes (PubMed:11590146, PubMed:11823489). Plays a role in homing and mobilization of hematopoietic stem and progenitor cells within the bone marrow. At the surface of bone marrow stromal cells, it contributes to the retention of the hematopoietic stem and progenitor cells expressing JAM3 (PubMed:11590146, PubMed:24357068). Plays a central role in leukocytes extravasation by facilitating transmigration through the endothelium (By similarity). Plays a role in spermatogenesis where JAM2 and JAM3, which are respectively expressed by Sertoli and germ cells, mediate an interaction between both cell types and play an essential role in the anchorage of germ cells onto Sertoli cells and the assembly of cell polarity complexes during spermatid differentiation (By similarity). Also functions as a counter-receptor for ITGAM, mediating leukocyte-platelet interactions and is involved in the regulation of transepithelial migration of polymorphonuclear neutrophils (PMN) (PubMed:12208882, PubMed:15194813). Plays a role in angiogenesis (PubMed:23255084). Plays a role in the regulation of cell migration (Probable). During myogenesis, it is involved in myocyte fusion (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Molecular cloning & role as VE-JAM/JAM 2 receptor, [RefSeq, PubMed]; Promotes chemotaxis of vascular endothelial cells and stimulates angiogenesis., [UniProtKB, PubMed]; Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. The protein encoded by this immunoglobulin superfamily gene member is localized in the tight junctions between high endothelial cells. Unlike other proteins in this family, the this protein is unable to adhere to leukocyte cell lines and only forms weak homotypic interactions. The encoded protein is a member of the junctional adhesion molecule protein family and acts as a receptor for another member of this family. A mutation in an intron of this gene is associated with hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Apr 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 2, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 8, "disease_count": 3, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B3KWG9;Q8WWL8;Q96FL1", "ec_number_list": [], "go_molecular_function": "GO:0005178 integrin binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity;GO:0098632 cell-cell adhesion mediator activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0005923 bicellular tight junction;GO:0043220 Schmidt-Lanterman incisure", "go_biological_process": "GO:0033624 negative regulation of integrin activation;GO:0097241 hematopoietic stem cell migration to bone marrow;GO:0001525 angiogenesis;GO:0007283 spermatogenesis;GO:0016477 cell migration", "synthesized_glycan_count": 0, "hit_score": 16.8, "record_id": "Q9BX67-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92886-1", "uniprot_id": [ { "id": "NGN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92886", "type": "external" } ], "mass": 25718.0, "length": 237, "protein_name": "Neurogenin-1", "gene_name": "NEUROG1", "organism": "Human", "refseq_name": "neurogenin-1", "refseq_ac": [ { "id": "NP_006152", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006152", "type": "external" } ], "gene_names_uniprotkb": "NEUROG1; BHLHA6; NEUROD3; NGN1; NGN", "gene_names_refseq": "AKA; CCDDRD; Math4C; NEUROD3; NEUROG1; bHLHa6; ngn1", "protein_names_uniprotkb": "Neurogenin-1; Class A basic helix-loop-helix protein 6; NGN-1; NeuroD3; Neurogenic basic-helix-loop-helix protein; Neurogenic differentiation factor 3; bHLHa6", "protein_names_refseq": "NGN-1; class A basic helix-loop-helix protein 6; neurogenic basic-helix-loop-helix protein; neurogenic differentiation 3; neurogenic differentiation factor 3; neurogenin-1", "tax_id": 9606, "disease": "cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay (MONDO:MONDO:0957563)", "pathway": " (hsa:4762)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "12526089;19365559;26077850;33439489;8816493", "class_list": "", "function": "Acts as a transcriptional regulator. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3'). Associates with chromatin to enhancer regulatory elements in genes encoding key transcriptional regulators of neurogenesis (By similarity)., [UniProtKB, UniProtKB]; Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders., [RefSeq, PubMed]; Overexpression of the full-length Ngn1 induced neurite outgrowth in F11 cells in the absence of cAMP, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5U0Q9;Q96HE1", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;GO:0042803 protein homodimerization activity;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0043204 perikaryon;GO:0000785 chromatin", "go_biological_process": "GO:0048806 genitalia development;GO:0030432 peristalsis;GO:0031223 auditory behavior;GO:0048634 regulation of muscle organ development;GO:0071626 mastication", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q92886-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WXA2-1", "uniprot_id": [ { "id": "PATE1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WXA2", "type": "external" } ], "mass": 14271.0, "length": 126, "protein_name": "Prostate and testis expressed protein 1", "gene_name": "PATE1", "organism": "Human", "refseq_name": "prostate and testis expressed protein 1 precursor", "refseq_ac": [ { "id": "NP_612151", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_612151", "type": "external" } ], "gene_names_uniprotkb": "PATE1; PATE", "gene_names_refseq": "PATE1; PATE", "protein_names_uniprotkb": "Prostate and testis expressed protein 1", "protein_names_refseq": "expressed in prostate and testis; prostate and testis expressed protein 1 precursor; prostate and testis expressed protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:160065)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11880645;18387948;22402205;25637620;27636828;29557506;34440724", "class_list": "", "function": "Analysis of PATE, expressed primarily in prostate and less in testis, and additional PATE-like genes PATE-M, PATE-DJ, and PATE-B, [RefSeq, PubMed]; CRISP2, CATSPER1 and PATE1 Expression in Human Asthenozoospermic Semen. Publication Status: Online-Only, [RefSeq, PubMed]; PATE proteins are involved in sperm-oolemma fusion and penetration but not sperm-zona binding., [RefSeq, PubMed]; PATE1 has a role in sperm-egg penetration and sperm motility, [RefSeq, PubMed]; These results show that PATE1 variant (A1423G) is probably one of the high risk genetic factors for idiopathic asthenozoospermia among males in China, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q3KNX2", "ec_number_list": [], "go_molecular_function": "GO:0030548 acetylcholine receptor regulator activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8WXA2-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01116-1", "uniprot_id": [ { "id": "RASK_HUMAN", "url": "https://www.uniprot.org/uniprot/P01116", "type": "external" } ], "mass": 21656.0, "length": 189, "protein_name": "GTPase KRas", "gene_name": "KRAS", "organism": "Human", "refseq_name": "GTPase KRas isoform b", "refseq_ac": [ { "id": "NP_004976", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004976", "type": "external" } ], "gene_names_uniprotkb": "KRAS; KRAS2; RASK2", "gene_names_refseq": "'C-K-RAS; C-K-RAS; CFC2; K-RAS2A; K-RAS2B; K-RAS4A; K-RAS4B; K-Ras 2; K-Ras; KI-RAS; KRAS1; KRAS2; KRAS; NS3; NS; OES; RALD2; RALD; RASK2; c-Ki-ras2; c-Ki-ras", "protein_names_uniprotkb": "GTPase KRas; 3.6.5.2; K-Ras 2; Ki-Ras; c-K-ras; c-Ki-ras", "protein_names_refseq": "GTPase KRas isoform b; GTPase KRas; K-ras p21 protein; KRAS-ENOPH fusion; Kirsten rat sarcoma viral oncogene homolog; Kirsten rat sarcoma viral proto-oncogene; Kras-Enoph1 fusion protein; PR310 c-K-ras oncogene; c-Kirsten-ras protein; cellular c-Ki-ras2 proto-oncogene; cellular transforming proto-oncogene; oncogene KRAS2; proto-oncogene GTPase; transforming protein p21; v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "tax_id": 9606, "disease": "juvenile myelomonocytic leukemia (Disease Ontology:DOID:0050458); cardiomyopathy (Disease Ontology:DOID:0050700); renal fibrosis (Disease Ontology:DOID:0050855); hepatocellular adenoma (Disease Ontology:DOID:0050868); cardiofaciocutaneous syndrome (Disease Ontology:DOID:0060233); Noonan syndrome 3 (Disease Ontology:DOID:0060581); arteriovenous malformations of the brain (Disease Ontology:DOID:0060688); endometrial hyperplasia (Disease Ontology:DOID:0080365); RASopathy (Disease Ontology:DOID:0080690); autoimmune lymphoproliferative syndrome type 4 (Disease Ontology:DOID:0110117); cardiofaciocutaneous syndrome 2 (Disease Ontology:DOID:0111461); linear nevus sebaceous syndrome (Disease Ontology:DOID:0111530); oculoectodermal syndrome (Disease Ontology:DOID:0111705); intestinal cancer (Disease Ontology:DOID:10155); prostate cancer (Disease Ontology:DOID:10283); stomach cancer (Disease Ontology:DOID:10534); intellectual disability (Disease Ontology:DOID:1059); urinary bladder cancer (Disease Ontology:DOID:11054); heart disease (Disease Ontology:DOID:114); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); leukemia (Disease Ontology:DOID:1240); lung cancer (Disease Ontology:DOID:1324); breast cancer (Disease Ontology:DOID:1612); cancer (Disease Ontology:DOID:162); pancreatic cancer (Disease Ontology:DOID:1793); kidney cancer (Disease Ontology:DOID:263); transitional cell carcinoma (Disease Ontology:DOID:2671); endometrial adenocarcinoma (Disease Ontology:DOID:2870); endometriosis (Disease Ontology:DOID:289); carcinoma (Disease Ontology:DOID:305); glioblastoma (Disease Ontology:DOID:3068); malignant astrocytoma (Disease Ontology:DOID:3069); high grade glioma (Disease Ontology:DOID:3070); anaplastic astrocytoma (Disease Ontology:DOID:3078); Noonan syndrome (Disease Ontology:DOID:3490); Lynch syndrome (Disease Ontology:DOID:3883); lung adenocarcinoma (Disease Ontology:DOID:3910); cervical cancer (Disease Ontology:DOID:4362); seminoma (Disease Ontology:DOID:4440); renal cell carcinoma (Disease Ontology:DOID:4450); pancreatic carcinoma (Disease Ontology:DOID:4905); bronchiolo-alveolar adenocarcinoma (Disease Ontology:DOID:4926); Klatskin's tumor (Disease Ontology:DOID:4927); intrahepatic cholangiocarcinoma (Disease Ontology:DOID:4928); stomach carcinoma (Disease Ontology:DOID:5517); fibrillary astrocytoma (Disease Ontology:DOID:6726); hepatocellular carcinoma (Disease Ontology:DOID:684); pancreatic mucinous cystadenoma (Disease Ontology:DOID:7235); muscular atrophy (Disease Ontology:DOID:767); myeloid sarcoma (Disease Ontology:DOID:8683); acute myeloid leukemia (Disease Ontology:DOID:9119); colorectal cancer (Disease Ontology:DOID:9256); multiple myeloma (Disease Ontology:DOID:9538); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:3845); (R-HSA-6802946); (R-HSA-6802955); (R-HSA-8951936); (R-HSA-9648002); (R-HSA-9649948); (R-HSA-9674555); (R-HSA-9680350); (R-HSA-9753510); (R-HSA-9753512)", "pathway_count": 10, "publication_count": 321, "publication_id_list": "10085068;10085069;10537111;10574788;10643150;10667208;11038283;11120601;11196150;11237011;11325826;11585916;11739732;12068308;12091906;12433685;12727204;12750467;12787671;12882960;1334462;14534542;14561760;14660603;14966563;15035987;15138260;15294875;15451670;1553789;15616773;15659645;16000296;16043511;16247081;16364920;16448675;16474404;16474405;16483930;16492764;16508002;16533793;16702958;16720384;16756473;16773572;16959974;1701053;17018604;17056636;17332249;17468812;17540168;17611392;17875937;17879956;18182391;18467591;18502828;18562239;18644434;18932251;19087308;19109152;19188362;19396835;19467855;19681124;19744486;19787214;19815696;19880654;19881948;19933846;20130576;20141835;20162668;20179705;20194776;20416930;20418879;20489731;20622895;20709748;20802526;20805368;20848283;20871262;20939116;20949621;21049007;21170358;21375404;2147944;21481788;21514245;21661760;21686117;21738581;21779496;21779505;21797849;21905185;21905186;2196173;21993244;22002721;22043453;22144181;22153499;22160930;22169039;22179043;22180717;22195972;22266220;22292133;22336159;22431598;22483114;22510884;22566140;22589270;22711838;22721555;22734028;22804747;23143308;23157826;23157828;23190154;23297805;23302307;23313110;23352452;23443682;23453624;23514631;23524970;23537520;23680146;23698361;23875798;23887057;23887294;23943869;24033119;24038521;24040454;24121058;24200637;24202393;24220695;24229708;24415755;24558511;24623306;24624786;24629489;24649376;24651010;24725411;24890514;24957944;24971579;25013473;25170638;25202344;25359494;25435214;25550383;25609577;25611236;25616942;25644510;25702261;25713064;25759176;25781681;25801914;25808193;25823825;25907612;26029847;26085527;26154972;26235028;26284123;26371285;26372703;26378065;26418953;26516200;26590425;2661017;26622666;26662311;26701913;26706195;26771141;26788852;26812186;26820161;2682646;26898615;26909577;26970110;26992070;27010960;27043547;27094677;27127178;27246726;27283493;27396271;27410739;27518460;27591291;27600516;27606136;27624879;27697864;27791178;27862975;27878354;28088512;28167504;2821624;28433077;28449606;28467828;28514659;28619714;28630138;28666118;28778966;28835438;29093617;29239724;29311131;29312580;29331515;29362371;29393594;29424242;29493099;29557506;29632046;29715099;3034404;30410026;30429286;30442762;30442766;30644389;30891959;31844290;32157095;32877642;3310850;33123756;33592498;33633747;33680360;33912179;34171305;34357683;34380736;34820593;35051231;35522713;35580925;35768504;35830882;35831509;36088370;36175670;36241641;3627975;36593402;37287989;3855240;38684865;3932274;39462261;39488539;39809765;40934300;6092920;6096811;6308465;6308466;6308467;6320174;6695174;7512720;7521688;7597091;7681396;7737969;7773929;7805849;8197119;8315383;8355686;8439212;8955068;8977235;8981370;9024823;9139869;9219684;9225065;9226159;9302992;9436858;9810004;9822558;9851253;9864153", "class_list": "", "function": "Association between KRAS mutation and alcohol consumption in Brazilian patients with colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; KRAS mutation promotes the colonization of Fusobacterium nucleatum in colorectal cancer by down-regulating SERTAD4., [RefSeq, PubMed]; Signal transducer in the Ras-MAPK signaling pathway that regulates cell proliferation and survival (PubMed:22711838, PubMed:23698361). Ras proteins bind GDP/GTP and possess intrinsic GTPase activity (PubMed:20949621, PubMed:39809765). Activates MAPK1/MAPK3 resulting in phosphorylation and ultimately degradation of GJA1 (By similarity). Plays a role in promoting oncogenic events by inducing transcriptional silencing of tumor suppressor genes (TSGs) in colorectal cancer (CRC) cells in a ZNF304-dependent manner (PubMed:24623306). Recognized by LZTR1 that mediates its ubiquitination by a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex (PubMed:40934300)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene, a Kirsten ras oncogene homolog from the mammalian ras gene family, encodes a protein that is a member of the small GTPase superfamily. A single amino acid substitution is responsible for an activating mutation. The transforming protein that results is implicated in various malignancies, including lung adenocarcinoma, mucinous adenoma, ductal carcinoma of the pancreas and colorectal carcinoma. Alternative splicing leads to variants encoding two isoforms that differ in the C-terminal region. [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": 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": 2, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 38, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 54, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K8Z5;B0LPF9;P01118;Q96D10", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.1.1.100", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.100", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.5.1.58", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.58", "type": "external" }, { "id": "2.5.1.59", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.59", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" }, { "id": "3.4.26.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.26.1", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0042802 identical protein binding;GO:0044877 protein-containing complex binding;GO:0043495 protein-membrane adaptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0005741 mitochondrial outer membrane;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0046579 positive regulation of Ras protein signal transduction;GO:0001889 liver development;GO:0008284 positive regulation of cell population proliferation;GO:0010628 positive regulation of gene expression;GO:0035900 response to isolation stress", "synthesized_glycan_count": 0, "hit_score": 32.3, "record_id": "P01116-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P589-1", "uniprot_id": [ { "id": "TP8L2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P589", "type": "external" } ], "mass": 20556.0, "length": 184, "protein_name": "Tumor necrosis factor alpha-induced protein 8-like protein 2", "gene_name": "TNFAIP8L2", "organism": "Human", "refseq_name": "tumor necrosis factor alpha-induced protein 8-like protein 2", "refseq_ac": [ { "id": "NP_078851", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078851", "type": "external" } ], "gene_names_uniprotkb": "TNFAIP8L2", "gene_names_refseq": "TIPE2; TNFAIP8L2", "protein_names_uniprotkb": "Tumor necrosis factor alpha-induced protein 8-like protein 2; Inflammation factor protein 20; TIPE2; TNF alpha-induced protein 8-like protein 2; TNFAIP8-like protein 2", "protein_names_refseq": "TNF alpha-induced protein 8-like protein 2; TNFAIP8-like protein 2; inflammation factor 20; inflammation factor protein 20; tumor necrosis factor alpha-induced protein 8-like protein 2; tumor necrosis factor, alpha induced protein 8 like 2; tumor necrosis factor, alpha-induced protein 8-like protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:79626); (R-HSA-1483255)", "pathway_count": 2, "publication_count": 43, "publication_id_list": "18455983;19079267;20663561;21459448;21466895;21924498;22326055;24714562;25242044;25314070;25479791;25892735;26992070;27043859;27920218;28063628;28832583;28904123;29242379;29393594;29508533;29557506;29632046;29632711;29786170;30315122;30429286;31848261;32188758;32357974;32387766;32460619;32983136;33717175;33912179;34932366;35051231;35580925;37748665;37909982;38180455;38996928;39259551", "class_list": "", "function": "Acts as a negative regulator of innate and adaptive immunity by maintaining immune homeostasis (PubMed:27043859). Plays a regulatory role in the Toll-like signaling pathway by determining the strength of LPS-induced signaling and gene expression (PubMed:32188758). Inhibits TCR-mediated T-cell activation and negatively regulate T-cell function to prevent hyperresponsiveness (By similarity). Also inhibits autolysosome formation via negatively modulating MTOR activation by interacting with RAC1 and promoting the disassociation of the RAC1-MTOR complex (PubMed:32460619). Plays an essential role in NK-cell biology by acting as a checkpoint and displaying an expression pattern correlating with NK-cell maturation process and by negatively regulating NK-cell maturation and antitumor immunity (By similarity). Mechanistically, suppresses IL-15-triggered mTOR activity in NK-cells (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; High levels of TIPE2 were detected in monocyte/macrophage derived cell lines and ovarian adenocarcinoma cells, but not detectable or weakly expressed in most human carcinoma cell lines., [RefSeq, PubMed]; Implication of TIPE2 Expression on the Malignant Transformation of Oral Leukoplakia., [RefSeq, PubMed]; TIPE2 ameliorates neuroinflammation and cognitive impairment in sepsis-associated encephalopathy through regulating RhoA/ROCK2-NF-kappaB signaling pathway., [RefSeq, PubMed]; TIPE2 inhibits the migration and invasion of epithelial ovarian cancer cells by targeting Smad2 to reverse TGF-beta1-induced EMT., [RefSeq, PubMed]; TIPE2 is an inhibitor of both inflammation and cancer, and a potential drug target for inflammatory and neoplastic diseases., [RefSeq, PubMed]; The deubiquitinase OTUD1 deubiquitinates TIPE2 and plays a protective role in sepsis-induced lung injury by targeting TAK1-mediated MAPK and NF-kappaB signaling., [RefSeq, PubMed]; The unique expressional profile of human TIPE2 suggests new functions beyond controlling innate and adaptive immunity., [RefSeq, PubMed]; These results indicate that TIPE2 plays an important role in taming Hepatitis B virus-induced hepatic inflammation., [RefSeq, PubMed]; Tumor Necrosis Factor-alpha-Induced Protein-8-like 2 Transfected Adipose-Derived Stem Cells Regulated the Dysfunction of Monocrotaline Pyrrole-Induced Pulmonary Arterial Smooth Muscle Cells and Pulmonary Arterial Endothelial Cells. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 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": "Q6I9Y0;Q9H2H7;Q9H5G2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005764 lysosome", "go_biological_process": "GO:0045087 innate immune response;GO:0050728 negative regulation of inflammatory response;GO:0042981 regulation of apoptotic process;GO:1902531 regulation of intracellular signal transduction;GO:0050868 negative regulation of T cell activation", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q6P589-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UIG5-1", "uniprot_id": [ { "id": "PS1C1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UIG5", "type": "external" } ], "mass": 16580.0, "length": 152, "protein_name": "Psoriasis susceptibility 1 candidate gene 1 protein", "gene_name": "PSORS1C1", "organism": "Human", "refseq_name": "psoriasis susceptibility 1 candidate gene 1 protein", "refseq_ac": [ { "id": "NP_054787", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054787", "type": "external" } ], "gene_names_uniprotkb": "PSORS1C1; C6orf16; SEEK1", "gene_names_refseq": "C6orf16; PSORS1C1; SEEK1", "protein_names_uniprotkb": "Psoriasis susceptibility 1 candidate gene 1 protein; Protein SEEK1", "protein_names_refseq": "epididymis secretory sperm binding protein; psoriasis susceptibility 1 candidate gene 1 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:170679)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "10545595;11237011;12930300;15301859;15708881;16029332;28107378;29193002;29589160;32938616;34325607;34509645;39894887", "class_list": "", "function": "In a case-control study, five of the nine single nucleotide polymorphisms (SNPs) found in SEEK1 were associated with psoriasis, while one of the four SNPs found in SPR1 showed association., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Patients carrying PSORS1C1 variant allele rs2233945 did not reach low disease activity at 6 months in both the whole RA group and Etanercept treated patients. Publication Status: Online-Only, [RefSeq, PubMed]; Psoriasis Susceptibility 1 Candidate 1 (PSORS1C1) Polymorphism is Associated with Autoimmune Thyroid Disease in a Chinese Han Population., [RefSeq, PubMed]; Results show, for the first time, the male-only associations of the PSORS1C3 gene with psoriasis risk and of the PSORS1C1/CDSN gene with severity of disease. However, the age dependent associations need to be validated in larger sample sizes as well as in other populations., [RefSeq, PubMed]; SEEK1 polymorphisms +39604, +39709, and +26680 are not associated with Crohn's disease in the Newfoundland population. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The results of this study confirms the minor allele PSORS1C1 is positively associated with allopurinol-induced drug hypersensitivity., [RefSeq, PubMed]; This gene is one of several genes thought to confer susceptibility to psoriasis and systemic sclerosis, located on chromosome 6 near the major histocompatibility complex (MHC) class I region. [provided by RefSeq, Sep 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B0V083;Q5ST21;Q86WJ8;Q86WJ9;Q96QC3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q9UIG5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JSJ4-1", "uniprot_id": [ { "id": "INT6L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JSJ4", "type": "external" } ], "mass": 96673.0, "length": 861, "protein_name": "Integrator complex subunit 6-like", "gene_name": "INTS6L", "organism": "Human", "refseq_name": "integrator complex subunit 6-like isoform 1", "refseq_ac": [ { "id": "NP_872346", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872346", "type": "external" } ], "gene_names_uniprotkb": "INTS6L; DDX26B", "gene_names_refseq": "DDX26B; INTS6L", "protein_names_uniprotkb": "Integrator complex subunit 6-like; Protein DDX26B", "protein_names_refseq": "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B; integrator complex subunit 6-like isoform 1; protein DDX26B", "tax_id": 9606, "disease": "", "pathway": " (hsa:203522)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "11237011;18452278;19664994;23033978;23186163;24366607;26992070;27920218;28514659;28832583;28904123;29242379;29557506;29632046;29786170;30410026;31092671;31844290;32157095;32357974;32488085;32983136;33141586;33298915;33592498;33912179;34171305;35051231;36010968", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5CZA2;Q6IPS3;Q6ZTU5;Q6ZWE4", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005813 centrosome;GO:0032039 integrator complex", "go_biological_process": "GO:0034472 snRNA 3'-end processing", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q5JSJ4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P10586-1", "uniprot_id": [ { "id": "PTPRF_HUMAN", "url": "https://www.uniprot.org/uniprot/P10586", "type": "external" } ], "mass": 212879.0, "length": 1907, "protein_name": "Receptor-type tyrosine-protein phosphatase F", "gene_name": "PTPRF", "organism": "Human", "refseq_name": "receptor-type tyrosine-protein phosphatase F isoform 1 precursor", "refseq_ac": [ { "id": "NP_002831", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002831", "type": "external" } ], "gene_names_uniprotkb": "PTPRF; LAR", "gene_names_refseq": "BNAH2; LAR; PTPRF", "protein_names_uniprotkb": "Receptor-type tyrosine-protein phosphatase F; 3.1.3.48; LAR; Leukocyte common antigen related", "protein_names_refseq": "LCA-homolog; leukocyte antigen-related (LAR) PTP receptor; leukocyte antigen-related tyrosine phosphatase; leukocyte common antigen related; protein tyrosine phosphatase, receptor type, F polypeptide; receptor-linked protein-tyrosine phosphatase LAR; receptor-type tyrosine-protein phosphatase F isoform 1 precursor", "tax_id": 9606, "disease": "azoospermia (Disease Ontology:DOID:14227); hyperinsulinism (Disease Ontology:DOID:2018); obesity (Disease Ontology:DOID:9970); breasts and/or nipples, aplasia or hypoplasia of, 2 (MONDO:MONDO:0014450)", "pathway": " (hsa:5792); (R-HSA-388844); (R-HSA-77387); (R-HSA-8849932)", "pathway_count": 4, "publication_count": 98, "publication_id_list": "10.1101/2023.09.13.557529;10338209;11237011;11779865;12496362;15491607;15750591;16271887;16335952;16495444;16574064;16630835;1695146;17051221;18227064;18406720;19252495;19321446;19349973;19681166;20068231;20139422;20600927;21262467;21940441;22087256;22286174;22357843;23090970;23345436;23358419;24190977;24275569;24715725;24781087;24958902;25385546;2554325;25576301;25908590;26321637;26992070;27397612;27846572;28904123;29093164;29391424;29557506;29596046;29671580;2972792;29741879;29786170;2986535;30484775;3061785;31020640;31217245;31844290;32157095;32350084;32355037;32357974;32387766;32488085;32938616;32973331;32983136;33214551;33298915;33592498;33717175;33968037;33981976;34019948;34078123;34087483;34171305;35051231;35138101;35251023;35318648;35580925;35735010;36241641;36284347;37074911;39302247;7569905;7796809;7929063;8300632;8601796;8682206;8995282;9609117;9624153;9793760", "class_list": "", "function": "Crystal and solution structures of fragments of the human leucocyte common antigen-related protein., [RefSeq, PubMed]; Cytoneme-like protrusion formation induced by LAR is promoted by receptor dimerization., [RefSeq, PubMed]; Inhibition of protein tyrosine phosphatase receptor type F suppresses Wnt signaling in colorectal cancer., [RefSeq, PubMed]; Possible cell adhesion receptor. It possesses an intrinsic protein tyrosine phosphatase activity (PTPase) and dephosphorylates EPHA2 regulating its activity., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The first PTPase domain has enzymatic activity, while the second one seems to affect the substrate specificity of the first one., [UniProtKB]; 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 contains three Ig-like domains, and nine non-Ig like domains similar to that of neural-cell adhesion molecule. This PTP was shown to function in the regulation of epithelial cell-cell contacts at adherents junctions, as well as in the control of beta-catenin signaling. An increased expression level of this protein was found in the insulin-responsive tissue of obese, insulin-resistant individuals, and may contribute to the pathogenesis of insulin resistance. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 58, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 43, "disease_count": 4, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "D3DPX6;D3DPX7;Q5T021;Q5T022;Q5W9G2;Q86WS0", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.21", "type": "external" }, { "id": "3.1.3.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.18", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.1.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.5", "type": "external" }, { "id": "3.1.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.2", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" } ], "go_molecular_function": "GO:0008201 heparin binding;GO:0050839 cell adhesion molecule binding;GO:0044877 protein-containing complex binding;GO:0004721 phosphoprotein phosphatase activity;GO:0005001 transmembrane receptor protein tyrosine phosphatase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043025 neuronal cell body;GO:0070062 extracellular exosome;GO:0043005 neuron projection;GO:0016020 membrane", "go_biological_process": "GO:0035335 peptidyl-tyrosine dephosphorylation;GO:0007185 cell surface receptor protein tyrosine phosphatase signaling pathway;GO:0007155 cell adhesion;GO:0007165 signal transduction;GO:0007399 nervous system development", "synthesized_glycan_count": 0, "hit_score": 14.8, "record_id": "P10586-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z6M1-1", "uniprot_id": [ { "id": "RABEK_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z6M1", "type": "external" } ], "mass": 40565.0, "length": 372, "protein_name": "Rab9 effector protein with kelch motifs", "gene_name": "RABEPK", "organism": "Human", "refseq_name": "rab9 effector protein with kelch motifs isoform a", "refseq_ac": [ { "id": "NP_001167623", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001167623", "type": "external" } ], "gene_names_uniprotkb": "RABEPK; RAB9P40", "gene_names_refseq": "RAB9P40; RABEPK; bA65N13.1; p40", "protein_names_uniprotkb": "Rab9 effector protein with kelch motifs; 40 kDa Rab9 effector protein; p40", "protein_names_refseq": "40 kDa Rab9 effector protein; Rab9 effector p40; rab9 effector protein with kelch motifs isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:10244); (R-HSA-6811440)", "pathway_count": 2, "publication_count": 107, "publication_id_list": "10209123;10445031;10559959;10637310;10865125;10990452;11237011;11303027;11346801;11359012;11689439;11827983;11839770;12070132;12377769;12620188;12620189;14530284;14580338;14718928;15029241;15037235;15077113;15077114;15128430;15269279;15483056;15654769;15758030;15870108;15878329;16042553;16129887;16571679;16769818;16885419;16912714;16936697;17451557;17488291;17562788;17684057;17698061;18195106;18243103;18256213;18367545;18664496;18946081;19164740;19490898;19620288;20685960;21183348;21421921;21436057;21689688;21807881;22335553;22354037;22581368;22717455;23091056;23186163;23437303;24366607;24794632;25343031;25576301;26992070;28218747;28834231;29242379;29437277;29557506;30315122;30379171;30410026;30429286;31154438;31217245;31530632;31844290;32357974;32387766;32938616;32983136;33592498;33968037;34171305;34932366;35051231;35580925;36240223;36284347;38665916;41350704;7909812;8221884;8440258;8620540;8636227;8670882;9050864;9177194;9230071;9590177", "class_list": "", "function": "P40 interaction with PIKfyve p40 os demonstrated; PIKfyve interaction and the subsequent PIKfyve-catalyzed p40 phosphorylation anchor p40 to discrete membranes facilitating late endosome-to-TGN transport., [RefSeq, PubMed]; Rab9 effector required for endosome to trans-Golgi network (TGN) transport., [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K403;O00568;Q69YR2;Q6FHA4;Q6IBG7;Q6P092;Q86Y76;Q9BWB1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005768 endosome;GO:0005829 cytosol;GO:0032588 trans-Golgi network membrane;GO:0010008 endosome membrane;GO:0030133 transport vesicle", "go_biological_process": "GO:0006898 receptor-mediated endocytosis;GO:0006904 vesicle docking involved in exocytosis", "synthesized_glycan_count": 0, "hit_score": 11.0, "record_id": "Q7Z6M1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86UX2-1", "uniprot_id": [ { "id": "ITIH5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86UX2", "type": "external" } ], "mass": 104576.0, "length": 942, "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H5", "gene_name": "ITIH5", "organism": "Human", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H5 isoform 3 precursor", "refseq_ac": [ { "id": "NP_001001851", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001851", "type": "external" } ], "gene_names_uniprotkb": "ITIH5; KIAA1953; PP14776; PRO354", "gene_names_refseq": "ITI-HC5; ITIH5; PP14776", "protein_names_uniprotkb": "Inter-alpha-trypsin inhibitor heavy chain H5; ITI heavy chain H5; ITI-HC5; Inter-alpha-inhibitor heavy chain 5", "protein_names_refseq": "ITI heavy chain H5; inter-alpha (globulin) inhibitor H5; inter-alpha-trypsin inhibitor heavy chain H5 isoform 3 precursor; inter-alpha-trypsin inhibitor heavy chain H5; inter-alpha-trypsin inhibitor heavy chain family member 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:80760)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "11237011;12975309;14744536;15498874;16385451;17653090;22869377;25576301;25645385;27397612;27846572;27862975;29557506;29741879;30315122;30429286;31848261;32387766;32488085;32799206;33024269;33633747;33924987;33935281;33968037;34561969;35580925;37074911;38375974", "class_list": "", "function": "Expression is consistantly lost or strongly downregulated in invasive ductal carcinoma; proposed that loss of ITIH5 expression may be involved in breast cancer development, [RefSeq, PubMed]; ITIH5 as a multifaceted player in pancreatic cancer suppression, impairing tyrosine kinase signaling, cell adhesion and migration., [RefSeq, PubMed]; ITIH5, a p53-responsive gene, inhibits the growth and metastasis of melanoma cells by downregulating the transcriptional activity of KLF4. Publication Status: Online-Only, [RefSeq, PubMed]; Inter-alpha-Trypsin Inhibitor Heavy Chain 5 (ITIH5) Is a Natural Stabilizer of Hyaluronan That Modulates Biological Processes in the Skin., [RefSeq, PubMed]; May act as a tumor suppressor., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Promoter methylation-mediated loss of ITIH5 expression is associated with unfavourable outcome in breast cancer patients., [RefSeq, PubMed]; Suppression of pancreatic cancer liver metastasis by secretion-deficient ITIH5., [RefSeq, PubMed]; The ECM Modulator ITIH5 Affects Cell Adhesion, Motility and Chemotherapeutic Response of Basal/Squamous-Like (BASQ) Bladder Cancer Cells. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a heavy chain component of one of the inter-alpha-trypsin inhibitor (ITI) family members. ITI proteins are involved in extracellular matrix stabilization and in the prevention of tumor metastasis. They are also structurally related plasma serine protease inhibitors and are composed of a light chain and varying numbers of heavy chains. This family member is thought to function as a tumor suppressor in breast and thyroid cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]., [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": 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": 66, "reported_interactions": 0, "missing_score": 8657, "biomarker_type": "", "glycan_count": 55, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q5T664;Q5T665;Q5T666;Q6AI60;Q6UXB7;Q8TF48;Q8WYV2;Q96K70", "ec_number_list": [], "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0031012 extracellular matrix", "go_biological_process": "GO:0030212 hyaluronan metabolic process", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "Q86UX2-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q68E01-1", "uniprot_id": [ { "id": "INT3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q68E01", "type": "external" } ], "mass": 118070.0, "length": 1043, "protein_name": "Integrator complex subunit 3", "gene_name": "INTS3", "organism": "Human", "refseq_name": "integrator complex subunit 3", "refseq_ac": [ { "id": "NP_001311404", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001311404", "type": "external" } ], "gene_names_uniprotkb": "INTS3; C1orf193; C1orf60", "gene_names_refseq": "C1orf193; C1orf60; INT3; INTS3; SOSS-A; SOSSA", "protein_names_uniprotkb": "Integrator complex subunit 3; Int3; SOSS complex subunit A; SOSS-A; Sensor of single-strand DNA complex subunit A; Sensor of ssDNA subunit A", "protein_names_refseq": "SOSS complex subunit A; integrator complex subunit 3; sensor of single-strand DNA complex subunit A; sensor of ssDNA subunit A", "tax_id": 9606, "disease": "", "pathway": " (hsa:65123); (R-HSA-6807505)", "pathway_count": 2, "publication_count": 125, "publication_id_list": "10022900;11237011;11856838;12414730;12574128;14701755;1535687;16239144;16308568;16901896;1739980;18079403;1829677;18669648;18991276;19605351;19667075;19683501;20068231;20457598;2125285;21406692;22137580;22231121;22252320;22441827;22869377;23166507;23186163;23301498;23481700;23904267;23932780;24097444;24270878;24275569;24714562;24715725;24997600;25576301;25645385;25675981;25880248;25892735;26375851;26728094;26811146;26992070;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29393594;29437277;2944599;29471365;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30429286;30484775;31217245;31530632;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33691108;33717175;33936100;33968037;34171305;34357683;34405274;34509645;34932366;35051231;35318648;35494241;35561310;35580925;36010968;36215666;36284347;37938771;38570683;39032490;40914422;7715707;8253082;8339931;8628262;8668525;9009278;9153304;9188510;9407024;9705341;9832505", "class_list": "", "function": "Component of the SOSS complex, a multiprotein complex that functions downstream of the MRN complex to promote DNA repair and G2/M checkpoint. The SOSS complex associates with single-stranded DNA at DNA lesions and influences diverse endpoints in the cellular DNA damage response including cell-cycle checkpoint activation, recombinational repair and maintenance of genomic stability. The SOSS complex is required for efficient homologous recombination-dependent repair of double-strand breaks (DSBs) and ATM-dependent signaling pathways. In the SOSS complex, it is required for the assembly of the complex and for stabilization of the complex at DNA damage sites., [UniProtKB, PubMed, PubMed]; Component of the integrator complex, a multiprotein complex that terminates RNA polymerase II (Pol II) transcription in the promoter-proximal region of genes (PubMed:38570683). The integrator complex provides a quality checkpoint during transcription elongation by driving premature transcription termination of transcripts that are unfavorably configured for transcriptional elongation: the complex terminates transcription by (1) catalyzing dephosphorylation of the C-terminal domain (CTD) of Pol II subunit POLR2A/RPB1 and SUPT5H/SPT5, (2) degrading the exiting nascent RNA transcript via endonuclease activity and (3) promoting the release of Pol II from bound DNA (PubMed:38570683). The integrator complex is also involved in terminating the synthesis of non-coding Pol II transcripts, such as enhancer RNAs (eRNAs), small nuclear RNAs (snRNAs), telomerase RNAs and long non-coding RNAs (lncRNAs) (PubMed:16239144). Within the integrator complex, INTS3 is involved in the post-termination step: INTS3 binds INTS7 in the open conformation of integrator complex and prevents the rebinding of Pol II to the integrator after termination cycle (PubMed:38570683). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the integrator complex (PubMed:23904267)., [UniProtKB, PubMed, PubMed, PubMed]; INTS3 is part of an ssDNA-binding heterotrimeric complex, SOSS which is involved in the maintenance of genome stability., [RefSeq, PubMed]; The protein encoded by this gene can form a complex with human single-strand DNA binding proteins 1 or 2 (hSSB1 and hSSB2) and other proteins to mediate genome stability and the DNA damage response. The encoded protein is also part of a multiprotein complex that interacts with the C-terminal domain of RNA polymerase II large subunit to help regulate processing of U1 and U2 small nuclear RNAs. [provided by RefSeq, May 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A8K1W0;B4DQC8;B4E3U9;D3DV57;Q4G0E5;Q5VUQ5;Q5VUQ6;Q5VUR0;Q5VUR1;Q68DJ1;Q69YR5;Q6AI57;Q6DKG7;Q6MZQ4;Q6MZZ9;Q8NC46;Q8TB23;Q9H6S9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0035861 site of double-strand break;GO:0032039 integrator complex", "go_biological_process": "GO:0034243 regulation of transcription elongation by RNA polymerase II;GO:0006281 DNA repair;GO:0006974 DNA damage response;GO:0010212 response to ionizing radiation;GO:0000724 double-strand break repair via homologous recombination", "synthesized_glycan_count": 0, "hit_score": 12.8, "record_id": "Q68E01-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "C9JH25-1", "uniprot_id": [ { "id": "PRRT4_HUMAN", "url": "https://www.uniprot.org/uniprot/C9JH25", "type": "external" } ], "mass": 92712.0, "length": 899, "protein_name": "Proline-rich transmembrane protein 4", "gene_name": "PRRT4", "organism": "Human", "refseq_name": "proline-rich transmembrane protein 4 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001108198", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001108198", "type": "external" } ], "gene_names_uniprotkb": "PRRT4", "gene_names_refseq": "PRRT4", "protein_names_uniprotkb": "Proline-rich transmembrane protein 4", "protein_names_refseq": "proline-rich transmembrane protein 4 isoform 2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:401399)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "10.1038/emboj.2013.79;11237011;19913121;20628086;23584533;28832583;30459171;32387766;35051231", "class_list": "", "function": "Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "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": "A4D0Z9;C9JVW7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "C9JH25-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16612-1", "uniprot_id": [ { "id": "NREP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16612", "type": "external" } ], "mass": 7909.0, "length": 68, "protein_name": "Neuronal regeneration-related protein", "gene_name": "NREP", "organism": "Human", "refseq_name": "neuronal regeneration-related protein isoform c", "refseq_ac": [ { "id": "NP_001135947", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135947", "type": "external" } ], "gene_names_uniprotkb": "NREP; C5orf13; P311", "gene_names_refseq": "C5orf13; D4S114; NREP; P311; PRO1873; PTZ17; SEZ17", "protein_names_uniprotkb": "Neuronal regeneration-related protein; Neuronal protein 3.1; Protein p311", "protein_names_refseq": "neuronal protein 3.1; neuronal regeneration related protein homolog; neuronal regeneration-related protein isoform c; protein p311", "tax_id": 9606, "disease": "", "pathway": " (hsa:9315)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "11237011;11358844;12417574;16229809;16484684;25576301;26811146;27600516;27846572;27939132;28063628;28228285;28904123;29393594;29508533;29557506;29632046;30230348;30429286;31154438;31844290;31998317;32265295;32357974;32387766;32502341;32938616;32983136;33392160;33592498;33717175;33912179;34171305;34932366;35580925;36010968;36241641;36284347;36309321;37354909;37742376;37938771", "class_list": "", "function": "H3K18 lactylation promotes the progression of arsenite-related idiopathic pulmonary fibrosis via YTHDF1/m6A/NREP., [RefSeq, PubMed]; May have roles in neural function. Ectopic expression augments motility of gliomas. Also promotes axonal regeneration (By similarity). May also have functions in cellular differentiation (By similarity). Induces differentiation of fibroblast into myofibroblast and myofibroblast ameboid migration. Increases retinoic-acid regulation of lipid-droplet biogenesis (By similarity). Down-regulates the expression of TGFB1 and TGFB2 but not of TGFB3 (By similarity). May play a role in the regulation of alveolar generation., [UniProtKB, PubMed, PubMed]; NREP contributes to development of NAFLD by regulating one-carbon metabolism in primary human hepatocytes., [RefSeq, PubMed]; P311 Promotes IL-4 Receptor-Mediated M2 Polarization of Macrophages to Enhance Angiogenesis for Efficient Skin Wound Healing., [RefSeq, PubMed]; P311 expression in the in the lungs of patients with idiopathic pulmonary fibrosis., [RefSeq, PubMed]; Role for P311 in inducing TGF-beta1-independent myofibroblast transformation, [RefSeq, PubMed]; These studies demonstrate that P311 is required for the production of normal cutaneous scars, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B2RDN8;B7Z5D2;D3DSZ8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0017015 regulation of transforming growth factor beta receptor signaling pathway;GO:0045664 regulation of neuron differentiation;GO:0031103 axon regeneration", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q16612-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0H0-1", "uniprot_id": [ { "id": "INT2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0H0", "type": "external" } ], "mass": 133379.0, "length": 1196, "protein_name": "Integrator complex subunit 2", "gene_name": "INTS2", "organism": "Human", "refseq_name": "integrator complex subunit 2 isoform 2", "refseq_ac": [ { "id": "NP_001317346", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317346", "type": "external" } ], "gene_names_uniprotkb": "INTS2; KIAA1287", "gene_names_refseq": "INT2; INTS2; KIAA1287", "protein_names_uniprotkb": "Integrator complex subunit 2; Int2", "protein_names_refseq": "integrator complex subunit 2 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:57508); (R-HSA-6807505)", "pathway_count": 2, "publication_count": 48, "publication_id_list": "10022900;11230166;11237011;11856838;12414730;12574128;14701755;1535687;16239144;16308568;16901896;1739980;18079403;1829677;19667075;20457598;2125285;22137580;22231121;22252320;22441827;23166507;23904267;23932780;24097444;24270878;24997600;25675981;26811494;2944599;30429286;33243860;34762484;36869814;37217939;38570683;39032490;7715707;8253082;8339931;8628262;8668525;9009278;9153304;9188510;9407024;9705341;9832505", "class_list": "", "function": "Component of the integrator complex, a multiprotein complex that terminates RNA polymerase II (Pol II) transcription in the promoter-proximal region of genes (PubMed:33243860, PubMed:38570683). The integrator complex provides a quality checkpoint during transcription elongation by driving premature transcription termination of transcripts that are unfavorably configured for transcriptional elongation: the complex terminates transcription by (1) catalyzing dephosphorylation of the C-terminal domain (CTD) of Pol II subunit POLR2A/RPB1 and SUPT5H/SPT5, (2) degrading the exiting nascent RNA transcript via endonuclease activity and (3) promoting the release of Pol II from bound DNA (PubMed:33243860, PubMed:38570683). The integrator complex is also involved in terminating the synthesis of non-coding Pol II transcripts, such as enhancer RNAs (eRNAs), small nuclear RNAs (snRNAs), telomerase RNAs and long non-coding RNAs (lncRNAs) (PubMed:16239144). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the integrator complex (PubMed:23904267)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; INTS2 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]., [RefSeq]; Mutation in INTS2 gene is associated with gastric cancer peritoneal carcinomatosis., [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": 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": "J3KMZ7;Q9ULD3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016020 membrane;GO:0031965 nuclear membrane", "go_biological_process": "GO:0034243 regulation of transcription elongation by RNA polymerase II;GO:0016180 snRNA processing;GO:0034472 snRNA 3'-end processing;GO:0160240 RNA polymerase II transcription initiation surveillance", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q9H0H0-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86WQ0-1", "uniprot_id": [ { "id": "NR2CA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86WQ0", "type": "external" } ], "mass": 15876.0, "length": 139, "protein_name": "Nuclear receptor 2C2-associated protein", "gene_name": "NR2C2AP", "organism": "Human", "refseq_name": "nuclear receptor 2C2-associated protein isoform 1", "refseq_ac": [ { "id": "NP_001287874", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287874", "type": "external" } ], "gene_names_uniprotkb": "NR2C2AP; TRA16", "gene_names_refseq": "NR2C2AP; TRA16", "protein_names_uniprotkb": "Nuclear receptor 2C2-associated protein; TR4 orphan receptor-associated 16 kDa protein", "protein_names_refseq": "TR4 orphan receptor associated protein TRA16; TR4 orphan receptor-associated 16 kDa protein; nuclear receptor 2C2-associated protein isoform 1; repressor for TR4 transactivation", "tax_id": 9606, "disease": "", "pathway": " (hsa:126382); (R-HSA-383280)", "pathway_count": 2, "publication_count": 56, "publication_id_list": "10235266;10542397;11237011;11865025;12486131;15175151;15381082;15896744;16751179;17054912;23129017;23481700;24366607;25418920;26758079;26811146;26929215;26992070;27600516;27846572;27862975;27920218;28063628;28218747;28446606;28514659;28832583;28855257;28904123;29242379;29393594;29493099;29557506;29632046;29786170;30429286;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32938616;32983136;33298915;33592498;33912179;33968037;35561310;35580925;36241641;9653119", "class_list": "", "function": "High TRA16 expression promotes small cell lung carcinoma by activating estrogen receptor beta and blocking testicular orphan nuclear receptor 2, [RefSeq, PubMed]; May act as a repressor of NR2C2-mediated transactivation by suppressing the binding between NR2C2/TR4 and the TR4-response element in target genes., [UniProtKB, PubMed]; TRA16 may function as a novel repressor to selectively suppress the TR4-mediated transactivation, [RefSeq, PubMed]; Taken together, these results suggested that TR4 should be one of important regulators of OXT gene expression., [RefSeq, PubMed]; Together, these findings provide the first in vivo evidence that an orphan nuclear receptor, such as TR4, may play major roles in the RA-mediated apoptosis or differentiation in P19 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": 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": "A6NGP7;B4DW92", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q86WQ0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92954-1", "uniprot_id": [ { "id": "PRG4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92954", "type": "external" } ], "mass": 151061.0, "length": 1404, "protein_name": "Proteoglycan 4", "gene_name": "PRG4", "organism": "Human", "refseq_name": "proteoglycan 4 isoform B preproprotein", "refseq_ac": [ { "id": "NP_001121180", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121180", "type": "external" } ], "gene_names_uniprotkb": "PRG4; MSF; SZP", "gene_names_refseq": "CACP; HAPO; JCAP; MSF; PRG4; SZP", "protein_names_uniprotkb": "Proteoglycan 4; Lubricin; Megakaryocyte-stimulating factor; Superficial zone proteoglycan", "protein_names_refseq": "articular superficial zone protein; hemangiopoietin; lubricin; megakaryocyte stimulating factor; proteoglycan 4 isoform B preproprotein; superficial zone proteoglycan", "tax_id": 9606, "disease": "camptodactyly-arthropathy-coxa vara-pericarditis syndrome (Disease Ontology:DOID:0090127); pericarditis (Disease Ontology:DOID:1787)", "pathway": " (hsa:10216)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "10.1101/2023.09.13.557529;10545950;10743795;11124536;11237011;14976050;16000300;16335952;18088087;23090970;23599181;24190977;25187573;27114449;27862975;28832583;29557506;29741879;30459171;32144329;32983136;33123756;34357683;35051231;35459695;35580925;36694203;37074911;38253038;38781792;8185311;9920774", "class_list": "glycogene", "function": "A novel mutation in the proteoglycan 4 gene causing CACP syndrome: two sisters report. Publication Status: Online-Only, [RefSeq, PubMed]; Data suggest that HAPO is a novel growth factor acting on the primitive cells of both hematopoietic and endothelial cell lineages [HAPO], [RefSeq, PubMed]; Isoform F plays a role as a growth factor acting on the primitive cells of both hematopoietic and endothelial cell lineages., [UniProtKB]; Lubricin is transcribed, translated, and expressed by ocular surface epithelia. Lubricin presence significantly reduces friction between the cornea and conjunctiva., [RefSeq, PubMed]; PRG4 represses the genesis and metastasis of osteosarcoma by inhibiting PDL1 expression., [RefSeq, PubMed]; Plays a role in boundary lubrication within articulating joints. Prevents protein deposition onto cartilage from synovial fluid by controlling adhesion-dependent synovial growth and inhibiting the adhesion of synovial cells to the cartilage surface., [UniProtKB]; Results describe the production of antibodies against human lubricin to determine the consequence of disease-causing mutations at the protein level and to study the protein's normal post-translational processing., [RefSeq, PubMed]; The protein encoded by this gene is a large proteoglycan that is synthesized by chondrocytes located at the surface of articular cartilage and by some synovial lining cells. This protein contains both chondroitin sulfate and keratan sulfate glycosaminoglycans. It functions as a boundary lubricant at the cartilage surface and contributes to the elastic absorption and energy dissipation of synovial fluid. Mutations in this gene result in camptodactyly-arthropathy-coxa vara-pericarditis syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 1, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 101, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 61, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 119, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 119, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 6, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2001, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 23, "disease_count": 2, "glyco_site_count": 125, "binding_glycan_count": 0, "secondary_ac_list": "Q6DNC4;Q6DNC5;Q6ZMZ5;Q9BX49", "ec_number_list": [], "go_molecular_function": "GO:0030247 polysaccharide binding;GO:0005044 scavenger receptor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0005576 extracellular region", "go_biological_process": "GO:0006955 immune response", "synthesized_glycan_count": 0, "hit_score": 17.7, "record_id": "Q92954-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000011000.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96ST2-1", "uniprot_id": [ { "id": "IWS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96ST2", "type": "external" } ], "mass": 91955.0, "length": 819, "protein_name": "Protein IWS1 homolog", "gene_name": "IWS1", "organism": "Human", "refseq_name": "protein IWS1 homolog isoform 1", "refseq_ac": [ { "id": "NP_060439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060439", "type": "external" } ], "gene_names_uniprotkb": "IWS1; IWS1L", "gene_names_refseq": "IWS1", "protein_names_uniprotkb": "Protein IWS1 homolog; IWS1-like protein", "protein_names_refseq": "IWS1, SUPT6H interacting protein; IWS1-like protein; interacts with Spt6; protein IWS1 homolog isoform 1; protein IWS1 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:55677); (R-HSA-112382); (R-HSA-674695); (R-HSA-75955)", "pathway_count": 4, "publication_count": 126, "publication_id_list": "10.1101/2023.09.13.557529;10199401;11237011;11313498;11313499;11859374;11884399;12676794;15302935;15489290;16565220;16964243;17081983;17184735;17234882;17287340;17322306;18318008;18452278;18669648;18707149;18767875;19141475;19367720;1939271;19413330;19415658;19651622;19664995;19690332;19691289;19952111;20068231;20159561;20166139;21406692;22544926;22898188;23186163;23481700;24275569;24462114;2449431;24715725;25576301;25590759;25645385;25689719;26154972;26245978;26375851;26659056;26992070;27600516;27862975;28063628;28228285;28411811;28446606;28510447;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;29997176;30315122;30379171;30410026;30429286;30524438;30779550;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32350084;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33465208;33592498;33691108;33912179;33968037;33981976;34019948;34087483;34171305;34211107;34509645;34561969;34822292;35051231;35318648;35561310;35580925;36010968;36215666;36580660;37938771;40596516;40914422;7660122;7660129;7660130;8370526;9450929;9489704", "class_list": "", "function": "A ubiquitous disordered protein interaction module orchestrates transcription elongation., [RefSeq, PubMed]; Altogether, these results indicate that a complex containing LEDGF/p75, Iws1, and Spt6 participates in regulating postintegration steps of HIV latency., [RefSeq, PubMed]; Common LEDGF/p75 interaction interface shared by JPO2, PogZ, MLL1, IWS1 and HIV IN Publication Status: Online-Only, [RefSeq, PubMed]; Here we report that the human homolog of Iws1, hIws1, physically interacts with protein arginine methyltransferases PRMT5 which methylates elongation factor Spt5 and regulates its interaction with RNA polymerase II., [RefSeq, PubMed]; Transcription factor which plays a key role in defining the composition of the RNA polymerase II (RNAPII) elongation complex and in modulating the production of mature mRNA transcripts. Acts as an assembly factor to recruit various factors to the RNAPII elongation complex and is recruited to the complex via binding to the transcription elongation factor SUPT6H bound to the C-terminal domain (CTD) of the RNAPII subunit RPB1 (POLR2A). The SUPT6H:IWS1:CTD complex recruits mRNA export factors (ALYREF/THOC4, EXOSC10) as well as histone modifying enzymes (such as SETD2) to ensure proper mRNA splicing, efficient mRNA export and elongation-coupled H3K36 methylation, a signature chromatin mark of active transcription., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 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": 84, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q2TB65;Q6P157;Q8N3E8;Q96MI7;Q9NV97;Q9NWH8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0016973 poly(A)+ mRNA export from nucleus;GO:0006338 chromatin remodeling;GO:0006397 mRNA processing;GO:0008380 RNA splicing;GO:0010793 regulation of mRNA export from nucleus", "synthesized_glycan_count": 0, "hit_score": 13.6, "record_id": "Q96ST2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z6K3-1", "uniprot_id": [ { "id": "PTAR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z6K3", "type": "external" } ], "mass": 46405.0, "length": 402, "protein_name": "Protein prenyltransferase alpha subunit repeat-containing protein 1", "gene_name": "PTAR1", "organism": "Human", "refseq_name": "protein prenyltransferase alpha subunit repeat-containing protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001093136", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093136", "type": "external" } ], "gene_names_uniprotkb": "PTAR1", "gene_names_refseq": "PTAR1", "protein_names_uniprotkb": "Protein prenyltransferase alpha subunit repeat-containing protein 1", "protein_names_refseq": "protein prenyltransferase alpha subunit repeat-containing protein 1 isoform 1; protein prenyltransferase alpha subunit repeat-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:375743)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11237011;24029068;24715725;25576301;25880248;25892735;27862975;29557506;30379171;31209342;31217245;31844290;32128853;32157095;32357974;32387766;32488085;32938616;32983136;33123756;33592498;33912179;33981976;34561969;35051231;35580925;36010968;36284347", "class_list": "", "function": "A SNARE geranylgeranyltransferase essential for the organization of the Golgi apparatus., [RefSeq, PubMed]; Substrate-recognition subunit of the geranylgeranyl transferase type 3 (GGTase-3) complex (PubMed:31209342, PubMed:32128853). The GGTase-3 complex geranylgeranylates and targets FBXL2 to the cellular membranes, where FBXL2 forms part of the E3 ubiquitin-protein ligase complex SCF(FBXL2) that mediates the degradation of membrane-anchored proteins (PubMed:31209342, PubMed:32128853). The GGTase-3 complex geranylgeranylates Golgi v-SNARE protein YKT6 at 'Cys-194' and this prenylation is required for Golgi SNARE complex assembly (PubMed:32128853)., [UniProtKB, PubMed, PubMed]; This study reports the identification of a previously unknown human prenyltransferase complex consisting of an orphan prenyltransferase alpha subunit, PTAR1, and the catalytic beta-subunit of GGTase2, RabGGTB., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 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": "Q5T7V5;Q5T7V6", "ec_number_list": [], "go_molecular_function": "GO:0008318 protein prenyltransferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q7Z6K3-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15534-1", "uniprot_id": [ { "id": "PER1_HUMAN", "url": "https://www.uniprot.org/uniprot/O15534", "type": "external" } ], "mass": 136212.0, "length": 1290, "protein_name": "Period circadian protein homolog 1", "gene_name": "PER1", "organism": "Human", "refseq_name": "period circadian protein homolog 1", "refseq_ac": [ { "id": "NP_002607", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002607", "type": "external" } ], "gene_names_uniprotkb": "PER1; KIAA0482; PER; RIGUI", "gene_names_refseq": "PER1; PER; RIGUI; hPER", "protein_names_uniprotkb": "Period circadian protein homolog 1; Circadian clock protein PERIOD 1; Circadian pacemaker protein Rigui; hPER1", "protein_names_refseq": "Period, drosophila, homolog of; circadian clock protein PERIOD 1; circadian pacemaker protein RIGUI; hPER1; period circadian clock 1; period circadian protein homolog 1; period homolog 1", "tax_id": 9606, "disease": "attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:5187); (R-HSA-9931510); (R-HSA-9931521); (R-HSA-9931530); (R-HSA-9932298)", "pathway_count": 5, "publication_count": 82, "publication_id_list": "10790862;10857746;10940553;11165242;11232563;11237011;14750904;15800623;15917222;16959974;17081983;17525332;17994337;18317514;18491316;18669648;19413330;19651622;19664995;19690332;1971514;19805222;20068231;23186163;23303907;23452856;23481700;23916625;24005054;24715725;25576301;25645385;26154972;26375851;26992070;27717682;27846572;27920218;28228285;28832583;28834231;29242379;29393594;29557506;29632711;29784789;29786170;30315122;30379171;30429286;30524438;30530698;31154438;31530632;31844290;32157095;32265295;32502341;32897882;32938616;32983136;33141586;33298915;33691108;33936100;33968037;33981976;34932366;35051231;35254053;35475497;35580925;35678317;35985238;36010968;36241641;37217939;38245510;38568246;9323128;9333243;9427249", "class_list": "", "function": "DNA polymerase beta connects tumorigenicity with the circadian clock in liver cancer through the epigenetic demethylation of Per1. Publication Status: Online-Only, [RefSeq, PubMed]; Insights into structure and activity relationship of clinically mutated PER1 and PER2 class A beta-lactamase enzymes., [RefSeq, PubMed]; LncRNA TPTEP1 inhibits the migration and invasion of gastric cancer cells through miR-548d-3p/KLF9/PER1 axis., [RefSeq, PubMed]; Prospective study of the association between chronotypes and depressive symptoms in Chinese university students: Moderating effects of PER1 gene DNA methylation., [RefSeq, PubMed]; The biological clock gene PER1 affects the development of oral squamous cell carcinoma by altering the circadian rhythms of cell proliferation and apoptosis., [RefSeq, PubMed]; This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene may increase the risk of getting certain cancers. Alternative splicing has been observed in this gene; however, these variants have not been fully described. [provided by RefSeq, Jan 2014]., [RefSeq]; Transcriptional repressor which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for 'timegivers'). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. The central clock entrains the peripheral clocks through neuronal and hormonal signals, body temperature and feeding-related cues, aligning all clocks with the external light/dark cycle. Circadian rhythms allow an organism to achieve temporal homeostasis with its environment at the molecular level by regulating gene expression to create a peak of protein expression once every 24 hours to control when a particular physiological process is most active with respect to the solar day. Transcription and translation of core clock components (CLOCK, NPAS2, BMAL1, BMAL2, PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythm generation, whereas delays imposed by post-translational modifications (PTMs) are important for determining the period (tau) of the rhythms (tau refers to the period of a rhythm and is the length, in time, of one complete cycle). A diurnal rhythm is synchronized with the day/night cycle, while the ultradian and infradian rhythms have a period shorter and longer than 24 hours, respectively. Disruptions in the circadian rhythms contribute to the pathology of cardiovascular diseases, cancer, metabolic syndromes and aging. A transcription/translation feedback loop (TTFL) forms the core of the molecular circadian clock mechanism. Transcription factors, CLOCK or NPAS2 and BMAL1 or BMAL2, form the positive limb of the feedback loop, act in the form of a heterodimer and activate the transcription of core clock genes and clock-controlled genes (involved in key metabolic processes), harboring E-box elements (5'-CACGTG-3') within their promoters. The core clock genes: PER1/2/3 and CRY1/2 which are transcriptional repressors form the negative limb of the feedback loop and interact with the CLOCK|NPAS2-BMAL1|BMAL2 heterodimer inhibiting its activity and thereby negatively regulating their own expression. This heterodimer also activates nuclear receptors NR1D1/2 and RORA/B/G, which form a second feedback loop and which activate and repress BMAL1 transcription, respectively. Regulates circadian target genes expression at post-transcriptional levels, but may not be required for the repression at transcriptional level. Controls PER2 protein decay. Represses CRY2 preventing its repression on CLOCK/BMAL1 target genes such as FXYD5 and SCNN1A in kidney and PPARA in liver. Besides its involvement in the maintenance of the circadian clock, has an important function in the regulation of several processes. Participates in the repression of glucocorticoid receptor NR3C1/GR-induced transcriptional activity by reducing the association of NR3C1/GR to glucocorticoid response elements (GREs) by BMAL1:CLOCK. Plays a role in the modulation of the neuroinflammatory state via the regulation of inflammatory mediators release, such as CCL2 and IL6. In spinal astrocytes, negatively regulates the MAPK14/p38 and MAPK8/JNK MAPK cascades as well as the subsequent activation of NFkappaB. Coordinately regulates the expression of multiple genes that are involved in the regulation of renal sodium reabsorption. Can act as gene expression activator in a gene and tissue specific manner, in kidney enhances WNK1 and SLC12A3 expression in collaboration with CLOCK. Modulates hair follicle cycling. Represses the CLOCK-BMAL1 induced transcription of BHLHE40/DEC1., [UniProtKB, 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": 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": 18, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 37, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B2RPA8;B4DI49;D3DTR3", "ec_number_list": [], "go_molecular_function": "GO:0031625 ubiquitin protein ligase binding;GO:0019900 kinase binding;GO:0000976 transcription cis-regulatory region binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0031490 chromatin DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:1900744 regulation of p38MAPK cascade;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "O15534-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13610-1", "uniprot_id": [ { "id": "PWP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13610", "type": "external" } ], "mass": 55828.0, "length": 501, "protein_name": "Periodic tryptophan protein 1 homolog", "gene_name": "PWP1", "organism": "Human", "refseq_name": "periodic tryptophan protein 1 homolog isoform 3", "refseq_ac": [ { "id": "NP_001304892", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304892", "type": "external" } ], "gene_names_uniprotkb": "PWP1", "gene_names_refseq": "IEF-SSP-9502; NCLB; PWP1", "protein_names_uniprotkb": "Periodic tryptophan protein 1 homolog; Keratinocyte protein IEF SSP 9502", "protein_names_refseq": "endonuclein; keratinocyte protein IEF SSP 9502; nuclear phosphoprotein similar to S. cerevisiae PWP1; periodic tryptophan protein 1 homolog isoform 3; periodic tryptophan protein 1 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:11137)", "pathway_count": 1, "publication_count": 96, "publication_id_list": "10671200;11237011;15302935;16565220;17081983;17287340;17487921;18452278;18669648;19007248;19413330;19415658;19651622;19664994;19664995;19690332;19691289;20028516;20068231;21406692;23186163;23301498;23481700;24275569;24366607;24715725;25418920;25576301;25645385;25880248;26154972;26375851;26811146;26929215;26992070;27600516;27846572;27920218;28218747;28228285;28352266;28510447;28649982;28832583;28834231;28904123;29065309;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;30315122;30410026;30429286;30484775;30779550;30833945;31154438;31530632;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33592498;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34405274;34509645;34932366;35051231;35580925;36241641;36284347;37938771;40914422;7828893", "class_list": "", "function": "Chromatin-associated factor that regulates transcription (PubMed:29065309). Regulates Pol I-mediated rRNA biogenesis and, probably, Pol III-mediated transcription (PubMed:29065309). Regulates the epigenetic status of rDNA (PubMed:29065309)., [UniProtKB, PubMed]; Endonuclein interacts with several proteins indicating a broad function including signal transduction and chaperone activity Publication Status: Online-Only, [RefSeq, PubMed]; High PWP1 expression is associated with head and neck squamous cell carcinoma., [RefSeq, PubMed]; The protein encoded by this gene contains several WD-40 repeats and is found mostly in the nucleus. The expression and localization of this protein are cell cycle dependent. Expression of this gene is upregulated in pancreatic adenocarcinoma. Three 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": 13, "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": "A8K3R6;Q7Z3X9", "ec_number_list": [], "go_molecular_function": "GO:1990889 histone H4K20me3 reader activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005694 chromosome", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006364 rRNA processing;GO:1901838 positive regulation of transcription of nucleolar large rRNA by RNA polymerase I", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "Q13610-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NVR2-1", "uniprot_id": [ { "id": "INT10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NVR2", "type": "external" } ], "mass": 82236.0, "length": 710, "protein_name": "Integrator complex subunit 10", "gene_name": "INTS10", "organism": "Human", "refseq_name": "integrator complex subunit 10 isoform g", "refseq_ac": [ { "id": "NP_060612", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060612", "type": "external" } ], "gene_names_uniprotkb": "INTS10; C8orf35", "gene_names_refseq": "C8orf35; INT10; INTS10", "protein_names_uniprotkb": "Integrator complex subunit 10; Int10", "protein_names_refseq": "integrator complex subunit 10 isoform g", "tax_id": 9606, "disease": "", "pathway": " (hsa:55174); (R-HSA-6807505)", "pathway_count": 2, "publication_count": 110, "publication_id_list": "10022900;11237011;11856838;12414730;12574128;14701755;1535687;16239144;16308568;16901896;1739980;17924679;18079403;1829677;18452278;18691976;19667075;19690332;20068231;20166139;20457598;2125285;22137580;22231121;22252320;22441827;23166507;23186163;23481700;23904267;23932780;24097444;24270878;24366607;24715725;24997600;25114211;25418920;25576301;25675981;25892735;26992070;27846572;27920218;28228285;28514659;28832583;28834231;28855257;28904123;29242379;29393594;29437277;2944599;29493099;29557506;29632046;29632711;29769354;29786170;30315122;30379171;30410026;30484775;31154438;31217245;31844290;31848261;32157095;32161166;32387766;32488085;32502341;32647223;32897882;32938616;32983136;33392160;33537174;33592498;33691108;33717175;33912179;33968037;34087483;34133796;34171305;34185709;34211107;34932366;35051231;35580925;36010968;36284347;36920904;38570683;38823386;39032490;40307207;7715707;8253082;8339931;8628262;8668525;9009278;9153304;9188510;9407024;9705341;9832505", "class_list": "", "function": "Component of the integrator complex, a multiprotein complex that terminates RNA polymerase II (Pol II) transcription in the promoter-proximal region of genes (PubMed:38570683, PubMed:38823386). The integrator complex provides a quality checkpoint during transcription elongation by driving premature transcription termination of transcripts that are unfavorably configured for transcriptional elongation: the complex terminates transcription by (1) catalyzing dephosphorylation of the C-terminal domain (CTD) of Pol II subunit POLR2A/RPB1 and SUPT5H/SPT5, (2) degrading the exiting nascent RNA transcript via endonuclease activity and (3) promoting the release of Pol II from bound DNA (PubMed:38570683). The integrator complex is also involved in terminating the synthesis of non-coding Pol II transcripts, such as enhancer RNAs (eRNAs), small nuclear RNAs (snRNAs), telomerase RNAs and long non-coding RNAs (lncRNAs) (PubMed:16239144, PubMed:32647223). Within the integrator complex, INTS10 is part of the integrator tail module that acts as a platform for the recruitment of transcription factors at promoters (PubMed:38823386). May be not involved in the recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the integrator complex (PubMed:23904267)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Effects of genetic polymorphisms in INTS10 and their interaction with environmental factors on progression from persistent HBV infection to hepatocellular carcinoma., [RefSeq, PubMed]; INTS10 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 16, "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": "Q6IA93;Q7L538;Q7L8C8;Q9H3W8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0032039 integrator complex;GO:0160232 INTAC complex", "go_biological_process": "GO:0034243 regulation of transcription elongation by RNA polymerase II;GO:0016180 snRNA processing;GO:0160240 RNA polymerase II transcription initiation surveillance", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "Q9NVR2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q32NB8-1", "uniprot_id": [ { "id": "PGPS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q32NB8", "type": "external" } ], "mass": 62730.0, "length": 556, "protein_name": "CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial", "gene_name": "PGS1", "organism": "Human", "refseq_name": "CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial precursor", "refseq_ac": [ { "id": "NP_077733", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_077733", "type": "external" } ], "gene_names_uniprotkb": "PGS1", "gene_names_refseq": "PGS1", "protein_names_uniprotkb": "CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial; 2.7.8.5; PGP synthase 1; Phosphatidylglycerophosphate synthase 1", "protein_names_refseq": "CDP-diacylglycerol--glycerol-3-phosphate 1-phosphatidyltransferase; CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial precursor; CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial; PGP synthase 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9489); (R-HSA-1483148)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "11237011;20877624;21641550;25418920;25576301;25880248;26811146;26992070;27846572;27920218;28063628;28218747;28228285;28467828;28832583;28904123;29242379;29371260;29393594;29437277;29493099;29557506;29632046;29769354;29786170;30315122;30429286;30484775;31844290;32357974;32387766;32502341;33123756;33298915;33392160;33592498;33968037;34357683;36215666;3718705;8380172;8530346;9140189;9407135;9761774", "class_list": "", "function": "Functions in the biosynthesis of the anionic phospholipids phosphatidylglycerol and cardiolipin., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B7ZA32;Q8IYK9;Q8TA85;Q96A75;Q9H7G9;Q9NPW7", "ec_number_list": [ { "id": "2.7.8.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.8.5", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0005509 calcium ion binding;GO:0008444 CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0046339 diacylglycerol metabolic process;GO:0006655 phosphatidylglycerol biosynthetic process;GO:0032049 cardiolipin biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q32NB8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P17301-1", "uniprot_id": [ { "id": "ITA2_HUMAN", "url": "https://www.uniprot.org/uniprot/P17301", "type": "external" } ], "mass": 129296.0, "length": 1181, "protein_name": "Integrin alpha-2", "gene_name": "ITGA2", "organism": "Human", "refseq_name": "integrin alpha-2 precursor", "refseq_ac": [ { "id": "NP_002194", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002194", "type": "external" } ], "gene_names_uniprotkb": "ITGA2; CD49B", "gene_names_refseq": "BR; CD49B; FMAIT3; GPIa; HPA-5; ITGA2; VLA-2; VLAA2", "protein_names_uniprotkb": "Integrin alpha-2; CD49 antigen-like family member B; Collagen receptor; GPIa; Platelet membrane glycoprotein Ia; VLA-2 subunit alpha", "protein_names_refseq": "CD49 antigen-like family member B; alpha 2 integrin; collagen receptor; human platelet alloantigen 5; human platelet alloantigen system 5; integrin alpha-2 precursor; integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor); platelet antigen Br; platelet glycoprotein GPIa; platelet membrane glycoprotein Ia; very late activation protein 2 receptor, alpha-2 subunit; very late activation receptor alpha-2 subunit; very late activation receptor subunit alpha-2", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); von Willebrand's disease 1 (Disease Ontology:DOID:0060573); von Willebrand's disease 2 (Disease Ontology:DOID:0060574); thrombosis (Disease Ontology:DOID:0060903); sensorineural hearing loss (Disease Ontology:DOID:10003); iron deficiency anemia (Disease Ontology:DOID:11758); Behcet's disease (Disease Ontology:DOID:13241); venous tributary occlusion of retina (Disease Ontology:DOID:13514); thrombocytopenia (Disease Ontology:DOID:1588); retinal vein occlusion (Disease Ontology:DOID:1727); Glanzmann's thrombasthenia (Disease Ontology:DOID:2219); arteriosclerosis (Disease Ontology:DOID:2349); coronary artery disease (Disease Ontology:DOID:3393); placental insufficiency (Disease Ontology:DOID:3891); myocardial infarction (Disease Ontology:DOID:5844); intermediate coronary syndrome (Disease Ontology:DOID:8805); diabetic retinopathy (Disease Ontology:DOID:8947); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); fetomaternal alloimmune thrombocytopenia 3 (MONDO:MONDO:0980725)", "pathway": " (hsa:3673); (R-HSA-216083); (R-HSA-3000157); (R-HSA-3000170); (R-HSA-3000178); (R-HSA-447041); (R-HSA-75892); (R-HSA-8874081); (R-HSA-9926550)", "pathway_count": 9, "publication_count": 178, "publication_id_list": "10.1101/2023.09.13.557529;10022829;10209034;10339611;10366422;10438935;10521801;10543983;10590055;10593924;10605720;10640428;10673326;10673366;10713152;10744142;10811134;10982388;11054877;11084047;11158588;11237011;11259413;11518510;11572855;11713259;11943772;11964076;11980922;12225811;12237301;12496264;12585966;12682293;12807887;12941907;12975610;1376317;14681059;14715956;14976204;15001579;15075323;15240572;15296743;15330449;15345499;15383545;1544908;15479743;15713743;1588291;15899827;16002701;16051604;16102042;16239428;16263699;16293224;16413178;16493581;16581764;16731529;16754661;16754960;16782899;16933105;16945929;17314405;17339034;17574028;17588949;17968485;18088087;18452278;18578522;18669648;18710925;1873226;18775695;18804435;19159218;19349973;1939645;19502598;19590037;19940119;20033473;2010551;20418909;2059554;20705068;20802513;21642437;21789315;22134916;22493504;22539938;22884367;23090970;23368983;23374253;2364322;2412224;24190977;2420006;2430969;24480479;2545729;2963012;29741879;30716301;30833945;31439947;31831667;31848261;32161166;32543734;34217213;34725712;36215666;36284347;37074911;37907515;37986328;38142122;38665916;3872140;39199378;3997977;41350704;6193777;6439184;7499434;7505120;7509446;7525578;7527058;7541634;7542249;7542669;7559467;7685013;7693733;7852349;7901236;8002934;8054685;8118028;8276836;8344274;8411387;8440685;8560266;8609172;8639781;8798654;8838667;8910476;8943283;9115237;9168821;9245798;9251239;9252349;9280292;9294172;9331419;9341124;9346959;9353312;9417118;9443892;9565552;9645947;9685393;9858236;9949188", "class_list": "", "function": "(Microbial infection) Integrin ITGA2:ITGB1 acts as a receptor for Human echoviruses 1 and 8., [UniProtKB, PubMed]; (Microbial infection) Integrin ITGA2:ITGB1 acts as a receptor for Human rotavirus A., [UniProtKB, PubMed]; ITGA2 as a prognostic factor of glioma promotes GSCs invasion and EMT by activating STAT3 phosphorylation., [RefSeq, PubMed]; Integrin alpha-2/beta-1 is a receptor for laminin, collagen, collagen C-propeptides, fibronectin and E-cadherin. It recognizes the proline-hydroxylated sequence G-F-P-G-E-R in collagen. It is responsible for adhesion of platelets and other cells to collagens, modulation of collagen and collagenase gene expression, force generation and organization of newly synthesized extracellular matrix., [UniProtKB]; PSAT1 Promotes Metastasis via p-AKT/SP1/ITGA2 Axis in Estrogen Receptor-Negative Breast Cancer Cell. Publication Status: Online-Only, [RefSeq, PubMed]; SDC1 and ITGA2 as novel prognostic biomarkers for PDAC related to IPMN. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes the alpha subunit of a transmembrane receptor for collagens and related proteins. The encoded protein forms a heterodimer with a beta subunit and mediates the adhesion of platelets and other cell types to the extracellular matrix. Loss of the encoded protein is associated with bleeding disorder platelet-type 9. Antibodies against this protein are found in several immune disorders, including neonatal alloimmune thrombocytopenia. This gene is located adjacent to a related alpha subunit gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]., [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": 9, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 9, "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": 3, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 49, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 76, "disease_count": 20, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "Q14595", "ec_number_list": [], "go_molecular_function": "GO:0005178 integrin binding;GO:0043395 heparan sulfate proteoglycan binding;GO:0046872 metal ion binding;GO:0001540 amyloid-beta binding;GO:0005518 collagen binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0009986 cell surface;GO:0043679 axon terminus;GO:0045178 basal part of cell", "go_biological_process": "GO:0007155 cell adhesion;GO:0007229 integrin-mediated signaling pathway;GO:0030198 extracellular matrix organization;GO:0045785 positive regulation of cell adhesion;GO:0045987 positive regulation of smooth muscle contraction", "synthesized_glycan_count": 0, "hit_score": 26.5, "record_id": "P17301-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2VWP7-1", "uniprot_id": [ { "id": "PRTG_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2VWP7", "type": "external" } ], "mass": 127076.0, "length": 1150, "protein_name": "Protogenin", "gene_name": "PRTG", "organism": "Human", "refseq_name": "protogenin precursor", "refseq_ac": [ { "id": "NP_776175", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_776175", "type": "external" } ], "gene_names_uniprotkb": "PRTG", "gene_names_refseq": "IGDCC5; PRTG", "protein_names_uniprotkb": "Protogenin; Protein Shen-Dan", "protein_names_refseq": "immunoglobulin superfamily, DCC subclass, member 5; protogenin homolog (Gallus gallus); protogenin precursor; shen-dan", "tax_id": 9606, "disease": "", "pathway": " (hsa:283659)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "10.1101/2023.09.13.557529;11237011;19076634;24007463;24190977;27600516;28425186;28832583;29242379;29351928;29393594;30524438;32157095;32502341;32938616;33542225;33936100;33968037;34171305;34357683;35051231;36010968;36215666;37217939", "class_list": "", "function": "Identified association of attention deficit hyperactivity disorder (ADHD) to Protogenin (PRTG), a gene that potentially plays a role in cell migration and axon growth. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; May play a role in anteroposterior axis elongation., [UniProtKB, UniProtKB]; PRTG is regulated by miRNA9, plays an inhibitory action on survival of chondroblasts and articular chondrocytes during chondrogenesis and osteoarthritis pathogenesis. Erratum:[Cell Commun Signal. 2019 Nov 28;17(1):158. doi: 10.1186/s12964-019-0483-7. PMID: 31779635] Publication Status: Online-Only, [RefSeq, PubMed]; The novel ZEB1-upregulated protein PRTG induced by Helicobacter pylori infection promotes gastric carcinogenesis through the cGMP/PKG signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the immunoglobulin superfamily. The encoded transmembrane protein has been associated with the development of various tissues, especially neurogenesis. It has been suggested that this gene may be associated with attention deficit hyperactivity disorder (ADHD). [provided by RefSeq, Nov 2014]., [RefSeq]; We found that a burden of low-frequency coding variants in N4BP2, CDSN, PRTG, and AHRR were associated with increased risk of Nonsyndromic cleft lip with or without cleft palate (NSCL/P) . Low-frequency variants in other genes were associated with decreased risk of NSCL/P. These results demonstrate that low-frequency variants contribute to the genetic etiology of NSCL/P, [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": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 52, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q8N7D8", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0098609 cell-cell adhesion;GO:0050768 negative regulation of neurogenesis", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q2VWP7-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35913-1", "uniprot_id": [ { "id": "PDE6B_HUMAN", "url": "https://www.uniprot.org/uniprot/P35913", "type": "external" } ], "mass": 98336.0, "length": 854, "protein_name": "Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta", "gene_name": "PDE6B", "organism": "Human", "refseq_name": "rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta isoform 1", "refseq_ac": [ { "id": "NP_000274", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000274", "type": "external" } ], "gene_names_uniprotkb": "PDE6B; PDEB", "gene_names_refseq": "CSNB3; CSNBAD2; GMP-PDEbeta; PDE6B; PDEB; RP40; rd1", "protein_names_uniprotkb": "Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta; 3.1.4.35; GMP-PDE beta", "protein_names_refseq": "GMP-PDE beta; phosphodiesterase 6B, cGMP-specific, rod, beta; rod cGMP-phosphodiesterase beta-subunit; rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta isoform 1; rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta", "tax_id": 9606, "disease": "retinitis pigmentosa 40 (Disease Ontology:DOID:0110375); congenital stationary night blindness autosomal dominant 2 (Disease Ontology:DOID:0110863); retinitis pigmentosa (Disease Ontology:DOID:10584); retinal degeneration (Disease Ontology:DOID:8466)", "pathway": " (hsa:5158); (R-HSA-2485179); (R-HSA-2514859); (R-HSA-4086398)", "pathway_count": 4, "publication_count": 161, "publication_id_list": "10037746;10051575;10380924;10391246;10391247;10395542;10488343;10564809;10588714;10676965;10777564;10858654;11015615;11030334;11237011;11292825;11563835;11601986;11687658;11713293;11754336;12015605;12036349;12086864;12119397;12432397;12467591;12467592;12471263;12482967;12499365;12525556;12556497;12729560;12825937;12975316;1322354;1338685;1356371;1379636;1387789;1436039;14702087;14704854;14977528;15494017;15545263;15611108;15946941;1614872;16274222;16460277;16880514;16895762;16908407;16920709;17114291;1720239;1722240;17267005;17426020;17636946;17684012;18456304;18488142;18803695;19177143;19536106;19818506;19851316;1999465;20430952;20850105;20940301;20975703;21118996;2155175;2161380;21903638;22334370;22658984;22941947;23151663;23256519;23416699;23632248;23904219;2422346;2457685;2467600;2473195;2540796;2550422;2558719;2578616;25823529;26590425;26992070;2748346;27588261;28228285;2835761;2837463;2841328;28904123;29472945;3006923;30620550;3095147;31217245;3164688;31844290;31848261;34584050;35033039;35051231;35154160;36376065;36959549;37094557;3933561;4359491;4361997;4366891;4772407;6264430;6930647;7525588;7526403;7644482;7670478;7678445;7682292;7724547;7777544;7983048;8075643;8382952;8394174;8394243;8494894;8500562;8557257;8595886;8626439;8673138;8698075;8706659;8768262;8812493;8913594;8956055;9073455;9119368;9353336;9389482;9430683;9459445;9478004;9506952;9543643", "class_list": "", "function": "A Novel Intronic Deletion in PDE6B Causes Autosomal Recessive Retinitis Pigmentosa by Interfering with RNA Splicing., [RefSeq, PubMed]; A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family. Publication Status: Online-Only, [RefSeq, PubMed]; Catalytic beta subunit of the rod-specific cGMP phosphodiesterase (PDE6) complex, which hydrolyzes 3',5'-cyclic GMP in the phototransduction cascade. The PDE6 holoenzyme consists of two catalytic subunits (PDE6A and PDE6B) and two inhibitory gamma subunits (PDE6G) (PubMed:20940301). Light-activated GNAT1 relieves gamma subunit-mediated inhibition, enabling the catalytic subunits to hydrolyze cGMP and thereby mediate visual signal transduction and amplification (PubMed:8394174). Decreased cytosolic cGMP levels result in closure of cGMP-gated cation channels at the plasma membrane, leading to rod photoreceptor hyperpolarization (Probable). Involved in retinal circadian rhythm photoentrainment via modulation of UVA and orange light-induced phase-shift of the retina clock (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]; Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod-cone degeneration. Publication Status: Online-Only, [RefSeq, PubMed]; Novel variants in PDE6A and PDE6B genes and its phenotypes in patients with retinitis pigmentosa in Chinese families. Publication Status: Online-Only, [RefSeq, PubMed]; PDE6B Mutation-associated Inherited Retinal Disease., [RefSeq, PubMed]; Photon absorption triggers a signaling cascade in rod photoreceptors that activates cGMP phosphodiesterase (PDE), resulting in the rapid hydrolysis of cGMP, closure of cGMP-gated cation channels, and hyperpolarization of the cell. PDE is a peripheral membrane heterotrimeric enzyme made up of alpha, beta, and gamma subunits. This gene encodes the beta subunit. Mutations in this gene result in retinitis pigmentosa and autosomal dominant congenital stationary night blindness. Multiple transcript variants encoding different isoforms have been found for this gene. [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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B7Z9T9;E7ETT3;Q53XN5;Q9BWH5;Q9UD49", "ec_number_list": [ { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.1.4.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.17", "type": "external" }, { "id": "3.1.4.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.35", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.25", "type": "external" }, { "id": "3.6.1.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.14", "type": "external" }, { "id": "3.1.4.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.53", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0047555 3',5'-cyclic-GMP phosphodiesterase activity;GO:0004115 3',5'-cyclic-AMP phosphodiesterase activity;GO:0004114 3',5'-cyclic-nucleotide phosphodiesterase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0097381 photoreceptor disc membrane;GO:0042622 photoreceptor outer segment membrane", "go_biological_process": "GO:0007601 visual perception;GO:0007603 phototransduction, visible light;GO:0060041 retina development in camera-type eye;GO:1990009 retinal cell apoptotic process;GO:0043153 entrainment of circadian clock by photoperiod", "synthesized_glycan_count": 0, "hit_score": 16.5, "record_id": "P35913-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A2A3K4-1", "uniprot_id": [ { "id": "PTPC1_HUMAN", "url": "https://www.uniprot.org/uniprot/A2A3K4", "type": "external" } ], "mass": 84457.0, "length": 754, "protein_name": "Protein tyrosine phosphatase domain-containing protein 1", "gene_name": "PTPDC1", "organism": "Human", "refseq_name": "protein tyrosine phosphatase domain-containing protein 1 isoform 3", "refseq_ac": [ { "id": "NP_001240758", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240758", "type": "external" } ], "gene_names_uniprotkb": "PTPDC1; PTP9Q22", "gene_names_refseq": "PTP9Q22; PTPDC1", "protein_names_uniprotkb": "Protein tyrosine phosphatase domain-containing protein 1; 3.1.3.-", "protein_names_refseq": "protein tyrosine phosphatase PTP9Q22; protein tyrosine phosphatase domain-containing protein 1 isoform 3; protein tyrosine phosphatase domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:138639)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "10.1101/2023.09.13.557529;11237011;23186163;29242379;31844290;32938616;33392160;33912179;33968037;33981976;35051231;36241641", "class_list": "", "function": "May play roles in cilia formation and/or maintenance., [UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene contains a characteristic motif of protein tyrosine phosphatases (PTPs). PTPs regulate activities of phosphoproteins through dephosphorylation. They are signaling molecules involved in the regulation of a wide variety of biological processes. The specific function of this protein has not yet been determined. Alternatively spliced 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": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "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": "Q5T3M4;Q6NXE8;Q8IWM1;Q8N1X4;Q8N9F5", "ec_number_list": [], "go_molecular_function": "GO:0004725 protein tyrosine phosphatase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0060271 cilium assembly", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "A2A3K4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NRA1-1", "uniprot_id": [ { "id": "PDGFC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NRA1", "type": "external" } ], "mass": 39029.0, "length": 345, "protein_name": "Platelet-derived growth factor C", "gene_name": "PDGFC", "organism": "Human", "refseq_name": "platelet-derived growth factor C precursor", "refseq_ac": [ { "id": "NP_057289", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057289", "type": "external" } ], "gene_names_uniprotkb": "PDGFC; PRO200; SCDGF", "gene_names_refseq": "FALLOTEIN; PDGFC; SCDGF", "protein_names_uniprotkb": "Platelet-derived growth factor C; Fallotein; PDGF-C; SCDGF; Spinal cord-derived growth factor; VEGF-E", "protein_names_refseq": "PDGF-C; VEGF-E; platelet-derived growth factor C precursor; secretory growth factor-like protein; spinal cord-derived growth factor", "tax_id": 9606, "disease": "", "pathway": " (hsa:56034)", "pathway_count": 1, "publication_count": 40, "publication_id_list": "10.1101/2023.09.13.557529;10806482;10858496;11004490;11237011;11297552;11313995;11342471;11854040;12032822;12176024;12598536;12707385;12975309;15061151;15247255;15372073;15389578;15728360;15911618;16279938;16439802;16443219;17482170;18055825;18172073;23090970;24190977;29317506;30429286;31844290;31848261;32938616;33968037;35422475;36901825;37074911;37615370;39225567;40930100", "class_list": "", "function": "Growth factor that plays an essential role in the regulation of embryonic development, cell proliferation, cell migration, survival and chemotaxis. Potent mitogen and chemoattractant for cells of mesenchymal origin. Required for normal skeleton formation during embryonic development, especially for normal development of the craniofacial skeleton and for normal development of the palate. Required for normal skin morphogenesis during embryonic development. Plays an important role in wound healing, where it appears to be involved in three stages: inflammation, proliferation and remodeling. Plays an important role in angiogenesis and blood vessel development. Involved in fibrotic processes, in which transformation of interstitial fibroblasts into myofibroblasts plus collagen deposition occurs. The CUB domain has mitogenic activity in coronary artery smooth muscle cells, suggesting a role beyond the maintenance of the latency of the PDGF domain. In the nucleus, PDGFC seems to have additional function., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Impact of Acute High Glucose on Mitochondrial Function in a Model of Endothelial Cells: Role of PDGF-C. Publication Status: Online-Only, [RefSeq, PubMed]; PDGF-C promotes cell proliferation partially via downregulating BOP1., [RefSeq, PubMed]; PDGFC was identified as target of EWS/ETS transcriptionalderegulation specific to EWS/FLI-1 chimeras in the Ewing Family Tumors suggesting that it may be a significant mediator of EWS/FLI driven oncogenesis., [RefSeq, PubMed]; Platelet-Derived Growth Factor C Facilitates Malignant Behavior of Pancreatic Ductal Adenocarcinoma by Regulating SREBP1 Mediated Lipid Metabolism., [RefSeq, PubMed]; RNA N6-methyladenosine demethylase FTO promotes pancreatic cancer progression by inducing the autocrine activity of PDGFC in an m(6)A-YTHDF2-dependent manner., [RefSeq, PubMed]; The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a core motif of eight cysteines. This gene product appears to form only homodimers. It differs from the platelet-derived growth factor alpha and beta polypeptides in having an unusual N-terminal domain, the CUB domain. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 4, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B4DU34;B9EGR8;Q4W5M9;Q9UL22", "ec_number_list": [], "go_molecular_function": "GO:0005161 platelet-derived growth factor receptor binding;GO:0042803 protein homodimerization activity;GO:0008083 growth factor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005788 endoplasmic reticulum lumen", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;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;GO:0007417 central nervous system development", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q9NRA1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75865-1", "uniprot_id": [ { "id": "TPC6A_HUMAN", "url": "https://www.uniprot.org/uniprot/O75865", "type": "external" } ], "mass": 17605.0, "length": 159, "protein_name": "Trafficking protein particle complex subunit 6A", "gene_name": "TRAPPC6A", "organism": "Human", "refseq_name": "trafficking protein particle complex subunit 6A isoform 2", "refseq_ac": [ { "id": "NP_001257820", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257820", "type": "external" } ], "gene_names_uniprotkb": "TRAPPC6A; HSPC289", "gene_names_refseq": "TRAPPC6A; TRS33", "protein_names_uniprotkb": "Trafficking protein particle complex subunit 6A; TRAPP complex subunit 6A", "protein_names_refseq": "TRAPP complex subunit 6A; trafficking protein particle complex 6A; trafficking protein particle complex subunit 6A isoform 2", "tax_id": 9606, "disease": "neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy (Disease Ontology:DOID:0060934)", "pathway": " (hsa:79090); (R-HSA-204005); (R-HSA-8876198)", "pathway_count": 3, "publication_count": 285, "publication_id_list": "10445031;10559959;10679020;10747087;10788476;10818110;10825291;10903204;10982397;10990452;11035026;11038176;11179213;11285137;11306556;11516400;11689439;11703925;11746448;11784320;11917121;11927603;12058051;12070132;12221131;12235121;12244319;12364329;12427552;12475894;12684051;12944476;12972505;15037235;15096524;15138286;1516130;15247254;15388334;15528189;15561770;15692570;15878329;15914536;15958533;16207721;16262728;16303754;16373702;16410077;16495487;16525024;16525121;16571673;16624868;16641372;16697553;16754960;16828797;16880209;16912714;16950109;17005010;17038314;17043139;17132146;17189207;17192411;17208202;17239822;17287728;17316621;17488286;17562788;17574030;17646400;17671165;17678623;17684057;18076383;18094055;18354496;18367545;1845915;18477474;18559336;18585354;18664496;18701652;18779367;18804435;18843296;1900457;19109890;19164740;19345684;19403694;19416478;19490898;19620288;19638414;19656848;19725050;19729655;19745841;20008558;20154091;20159109;20159556;20305638;20308558;20404108;20434987;20545907;20592283;20679433;20797862;20851765;20937701;20966969;21041651;2115402;21183348;21187289;21216617;21273506;21330364;21421921;21445324;21458671;21478858;21532587;21554507;21586568;21683469;21689688;21706022;21718402;21776405;21951725;22013193;22065758;22072793;22157747;22171327;22365832;22433857;22511774;22581368;22595670;22622570;22648168;22653444;22675024;22705394;22762500;22908308;22983554;23084991;23091056;23147242;23176487;23176493;23220125;23239882;23247405;23263280;23295650;23333653;23351085;23357852;23378591;23420520;23444368;23478338;23479643;23645161;23678941;23684622;23698585;23713133;23839779;23864707;24119662;24296415;24644286;24694596;24715725;24719330;24891604;24917561;24967941;25074980;25202031;25341920;25343031;25406594;25472813;25492864;25586378;25619252;25648148;25713415;25925668;26055712;26177209;26245486;26434594;26538022;26925400;26936971;26992070;27041585;27044746;27103185;27246931;27329675;27543614;27795429;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29391579;29437277;29493099;29508533;29557506;29632711;29786170;30315122;30410026;30524438;30779550;30833945;31154438;31530632;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33537174;33691108;33717175;33912179;33981976;34087483;34171305;34509645;34932366;35051231;35561310;35580925;36010968;36241641;7688123;7911226;8144603;8221884;8408203;8522602;8620540;8663406;8863739;9020086;9020161;9030515;9094723;9136770;9150144;9177194;9307973;9323142;9590177;9647643;9733780", "class_list": "", "function": "Host cellular protein TRAPPC6ADelta interacts with influenza A virus M2 protein and regulates viral propagation by modulating M2 trafficking. Publication Status: Online-Only, [RefSeq, PubMed]; Mapping and characterization of mouse Trappc6a, along with a description of the human homolog., [RefSeq, PubMed]; May play a role in vesicular transport during the biogenesis of melanosomes., [UniProtKB, UniProtKB]; Missense mutation in TRAPPC6A identified in patients with a neurodevelopmental syndrome, affects stability of the TRAPP complex. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a component of the trafficking protein particle complex, which tethers transport vesicles to the cis-Golgi membrane. Loss of expression of the related gene in mouse affects coat and eye pigmentation, suggesting that the encoded protein may be involved in melanosome biogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [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": 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": "K7ERB1;K7ERQ4;Q9BQ45;Q9P092", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005801 cis-Golgi network;GO:0005802 trans-Golgi network", "go_biological_process": "GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0048208 COPII vesicle coating;GO:0099022 vesicle tethering", "synthesized_glycan_count": 0, "hit_score": 28.6, "record_id": "O75865-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P19827-1", "uniprot_id": [ { "id": "ITIH1_HUMAN", "url": "https://www.uniprot.org/uniprot/P19827", "type": "external" } ], "mass": 101389.0, "length": 911, "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H1", "gene_name": "ITIH1", "organism": "Human", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H1 isoform b", "refseq_ac": [ { "id": "NP_001159906", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159906", "type": "external" } ], "gene_names_uniprotkb": "ITIH1; IGHEP1", "gene_names_refseq": "H1P; IATIH; ITI-HC1; ITIH1; ITIH; SHAP", "protein_names_uniprotkb": "Inter-alpha-trypsin inhibitor heavy chain H1; ITI heavy chain H1; ITI-HC1; Inter-alpha-inhibitor heavy chain 1; Inter-alpha-trypsin inhibitor complex component III; SHAP; Serum-derived hyaluronan-associated protein", "protein_names_refseq": "ITI heavy chain H1; inter-alpha (globulin) inhibitor, H1 polypeptide; inter-alpha-inhibitor heavy chain 1; inter-alpha-trypsin inhibitor complex component III; inter-alpha-trypsin inhibitor heavy chain H1 isoform b; inter-alpha-trypsin inhibitor heavy chain H1; serum-derived hyaluronan-associated protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:3697)", "pathway_count": 1, "publication_count": 50, "publication_id_list": "11237011;12754519;1380832;1384548;14760718;17924679;18669648;19139490;19159218;21081667;23090970;23481700;24275569;24279413;2446322;2471637;2476436;26468290;29242379;29391424;29557506;29632711;29671580;29741879;29786170;29789417;30429286;30459171;31484722;31844290;32350084;32983136;33744857;34357683;34725484;35051231;35080113;35251023;36284347;3663330;37074911;38253038;38665916;7504674;7505744;7513643;7522574;7535743;9425062;9677337", "class_list": "", "function": "Both IalphaI and the HC-hyaluronan complex are substrates for the extracellular matrix proteases ADAMTS-5 and matrix metalloprotease (MMP) -3, -7, and -13., [RefSeq, PubMed]; Contains a potential peptide which could stimulate a broad spectrum of phagocytotic cells., [UniProtKB]; Lysine demethylase 5C epigenetically reduces transcription of ITIH1 that results in augmented progression of liver hepatocellular carcinoma., [RefSeq, PubMed]; May act as a carrier of hyaluronan in serum or as a binding protein between hyaluronan and other matrix protein, including those on cell surfaces in tissues to regulate the localization, synthesis and degradation of hyaluronan which are essential to cells undergoing biological processes., [UniProtKB]; Pan-cancer analysis identifies ITIH1 as a novel prognostic indicator for hepatocellular carcinoma., [RefSeq, PubMed]; This gene encodes a member of the inter-alpha-trypsin inhibitor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the heavy chain of the inter-alpha-trypsin inhibitor complex, which is secreted by hepatocytes into the blood. The heavy chain also interacts with hyaluronan, and this interaction may play a role in ovulation and fertilization, and has been implicated in multiple inflammatory diseases. This gene is present in a gene cluster on chromosome 3. [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": 3, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 1, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 1, "total_n_glycosites": 4, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 1, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 45, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 87, "disease_count": 0, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "A8K9N5;B2RAH9;B7Z558;B7Z8C0;F5H165;F5H7Y8;P78455;Q01746;Q562G1", "ec_number_list": [], "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity;GO:0005509 calcium ion binding;GO:0030246 carbohydrate binding;GO:0005540 hyaluronic acid binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome;GO:0072562 blood microparticle", "go_biological_process": "GO:0030212 hyaluronan metabolic process", "synthesized_glycan_count": 0, "hit_score": 14.9, "record_id": "P19827-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1101000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NHR9-1", "uniprot_id": [ { "id": "PROF4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NHR9", "type": "external" } ], "mass": 14319.0, "length": 129, "protein_name": "Profilin-4", "gene_name": "PFN4", "organism": "Human", "refseq_name": "profilin-4", "refseq_ac": [ { "id": "NP_955378", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_955378", "type": "external" } ], "gene_names_uniprotkb": "PFN4", "gene_names_refseq": "PFN4", "protein_names_uniprotkb": "Profilin-4; Profilin IV", "protein_names_refseq": "profilin IV; profilin-4", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); myopathy (Disease Ontology:DOID:423)", "pathway": " (hsa:375189)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;15591451;19419568;19773279;29557506;32938616;33438010", "class_list": "", "function": "Involved in male fertility. Required for manchette development and acrosome biogenesis during spermiogenesis (By similarity). Binds in vitro to phospholipids, including phosphatidylinositol 3-phosphate (PtdIns(3)P), phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), phosphatidylinositol 4-phosphate (PtdIns(4)P) and phosphatidic acid (PA) (PubMed:19419568). Contrary to other profilin family members, does not bind to actin in vitro (PubMed:19419568)., [UniProtKB, PubMed, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Porfilin 4 bound to selected phosphoinositides but not to poly-L-proline, proline-rich proteins, or actin. 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": 6, "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": "Q53TL9", "ec_number_list": [], "go_molecular_function": "GO:0003785 actin monomer binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0005938 cell cortex", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030317 flagellated sperm motility;GO:0001675 acrosome assembly;GO:1905198 manchette assembly;GO:0120316 sperm flagellum assembly", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8NHR9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P21281-1", "uniprot_id": [ { "id": "VATB2_HUMAN", "url": "https://www.uniprot.org/uniprot/P21281", "type": "external" } ], "mass": 56501.0, "length": 511, "protein_name": "V-type proton ATPase subunit B, brain isoform", "gene_name": "ATP6V1B2", "organism": "Human", "refseq_name": "V-type proton ATPase subunit B, brain isoform", "refseq_ac": [ { "id": "NP_001684", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001684", "type": "external" } ], "gene_names_uniprotkb": "ATP6V1B2; ATP6B2; VPP3", "gene_names_refseq": "ATP6B1B2; ATP6B2; ATP6V1B2; DOOD; HO57; VATB; VPP3; Vma2; ZLS2", "protein_names_uniprotkb": "V-type proton ATPase subunit B, brain isoform; Endomembrane proton pump 58 kDa subunit; HO57; V-ATPase subunit B 2; Vacuolar proton pump subunit B 2", "protein_names_refseq": "ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2; H+ transporting two-sector ATPase; V-ATPase B2 subunit; V-ATPase subunit B 2; V-type proton ATPase subunit B, brain isoform; endomembrane proton pump 58 kDa subunit; testicular secretory protein Li 65; vacuolar H+-ATPase 56,000 subunit; vacuolar proton pump subunit B 2", "tax_id": 9606, "disease": "follicular lymphoma (Disease Ontology:DOID:0050873); autosomal dominant congenital deafness with onychodystrophy (Disease Ontology:DOID:0080720); renal tubular acidosis (Disease Ontology:DOID:14219); epilepsy (Disease Ontology:DOID:1826); Zimmermann-Laband syndrome 2 (MONDO:MONDO:0014646)", "pathway": " (hsa:526); (R-HSA-1222556); (R-HSA-77387); (R-HSA-917977); (R-HSA-9639288); (R-HSA-983712); (R-HSA-9857377)", "pathway_count": 7, "publication_count": 164, "publication_id_list": "10029572;10409623;10671200;10802645;11237011;11237855;11779865;11800564;11970843;12042320;12531241;12643545;1373501;15104674;15854902;15878852;16098514;16227996;16271887;16564538;16574064;16609065;16793765;17051221;17081065;17470430;17662945;17729390;18406720;18452278;18497260;18604198;18794901;19089323;19321446;20068231;20112406;20134026;20381137;21124855;2145275;22053050;22087256;22575674;22980980;23401004;23723238;24081491;24095279;24913193;25259925;25263562;25457612;25561175;25567906;25576301;25645385;25819761;25915598;26205815;26449471;26586190;26768311;26972053;26992070;27308486;27452731;27487210;27600516;27648300;27846572;27862975;27920218;28066558;28199306;28199315;2825632;2848506;28514659;28832583;28834231;28904123;29053970;29056322;29123071;29236692;29242379;29393594;29557506;29596046;29632046;29632711;29786170;2986535;29993276;30061680;30181260;30254208;30337524;30429286;30573663;3061785;30651352;31154438;31217245;31530632;31655144;31844290;31848261;31998317;32001091;32157095;32161166;32265295;32350084;32387766;32488085;32502341;32873933;32938616;32983136;33043033;33065002;33123756;33298915;33392160;33592498;33717175;33912179;33936100;33968037;33981976;34171305;34229054;34357683;34509645;34725712;34932366;35008409;35051231;35154160;35251023;35318648;35561310;35580925;36010968;36284347;37938771;38665916;40914422;6141558;6309857;7499430;7706273;7929063;7945239;7980580;8300632;8537108;8682206;8995282;9465039;9609117;9793760", "class_list": "", "function": "DOORS syndrome and a recurrent truncating ATP6V1B2 variant. Erratum:[Genet Med. 2021 Jan;23(1):237. doi: 10.1038/s41436-020-00969-y. PMID: 32934366], [RefSeq, PubMed]; EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities., [RefSeq, PubMed]; Non-catalytic subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons. V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment. In renal intercalated cells, can partially compensate the lack of ATP6V1B1 and mediate secretion of protons (H+) into the urine under base-line conditions but not in conditions of acid load., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed, 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, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by this gene is one of two V1 domain B subunit isoforms and is the only B isoform highly expressed in osteoclasts. [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": 4, "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": "B2R5Z3;D3DSQ5;Q14544;Q15859;Q96IR0", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0015078 proton transmembrane transporter activity;GO:0046961 proton-transporting ATPase activity, rotational mechanism", "go_cellular_component": "GO:0098850 extrinsic component of synaptic vesicle membrane;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0016241 regulation of macroautophagy;GO:0046034 ATP metabolic process;GO:0097401 synaptic vesicle lumen acidification;GO:0007035 vacuolar acidification;GO:1902600 proton transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 16.7, "record_id": "P21281-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UN74-1", "uniprot_id": [ { "id": "PCDA4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UN74", "type": "external" } ], "mass": 102293.0, "length": 947, "protein_name": "Protocadherin alpha-4", "gene_name": "PCDHA4", "organism": "Human", "refseq_name": "protocadherin alpha-4 isoform 1 precursor", "refseq_ac": [ { "id": "NP_061730", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061730", "type": "external" } ], "gene_names_uniprotkb": "PCDHA4", "gene_names_refseq": "CNR1; CNRN1; CRNR1; PCDH-ALPHA4; PCDHA4", "protein_names_uniprotkb": "Protocadherin alpha-4; PCDH-alpha-4", "protein_names_refseq": "KIAA0345-like 10; PCDH-alpha-4; ortholog of mouse CNR1, KIAA0345-like 10; ortholog of mouse CNR1; protocadherin alpha-4 isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:56144)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "10380929;11237011;20068231;30429286;32938616;35051231;35580925;36215666", "class_list": "", "function": "Calcium-dependent cell-adhesion protein involved in cells self-recognition and non-self discrimination. Thereby, it is involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB, UniProtKB]; This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 70, "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": "O75285;Q2M253", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q9UN74-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P43115-1", "uniprot_id": [ { "id": "PE2R3_HUMAN", "url": "https://www.uniprot.org/uniprot/P43115", "type": "external" } ], "mass": 43310.0, "length": 390, "protein_name": "Prostaglandin E2 receptor EP3 subtype", "gene_name": "PTGER3", "organism": "Human", "refseq_name": "prostaglandin E2 receptor EP3 subtype isoform 4", "refseq_ac": [ { "id": "NP_001119516", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001119516", "type": "external" } ], "gene_names_uniprotkb": "PTGER3", "gene_names_refseq": "EP3-III; EP3-II; EP3-IV; EP3-I; EP3-VI; EP3e; EP3; PGE2-R; PTGER3; lnc003875", "protein_names_uniprotkb": "Prostaglandin E2 receptor EP3 subtype; PGE receptor EP3 subtype; PGE2 receptor EP3 subtype; PGE2-R; Prostanoid EP3 receptor", "protein_names_refseq": "PGE receptor, EP3 subtype; PGE2 receptor EP3 subtype; prostaglandin E receptor 3 (subtype EP3); prostaglandin E2 receptor EP3 subtype isoform 4; prostaglandin E2 receptor EP3 subtype; prostaglandin receptor (PGE-2); prostanoid EP3 receptor", "tax_id": 9606, "disease": "withdrawal disorder (Disease Ontology:DOID:0060001); aspirin-induced respiratory disease (Disease Ontology:DOID:0080822); membranous glomerulonephritis (Disease Ontology:DOID:10976); leiomyoma (Disease Ontology:DOID:127); renovascular hypertension (Disease Ontology:DOID:1591); colon cancer (Disease Ontology:DOID:219); asthma (Disease Ontology:DOID:2841)", "pathway": " (hsa:5733); (R-HSA-391908); (R-HSA-418594)", "pathway_count": 3, "publication_count": 46, "publication_id_list": "10036181;10634944;11007482;11237011;11740958;12120503;12222762;12466225;12519077;15464062;15951850;16634148;16923326;18023986;18434541;18577758;19054851;2171039;2534964;2748346;2834384;29557506;32488085;35113749;35134851;35781818;36578105;38566528;7476918;7532011;7642548;7883006;7937899;7981210;8015379;8075855;8078484;8117308;8135729;8163486;8253813;8300593;8307176;8406495;9073510;9462300", "class_list": "", "function": "Altered Prostaglandin E Receptor Subtype 3 Expression in Lacrimal Glands of Patients with Chronic Stevens-Johnson Syndrome., [RefSeq, PubMed]; E prostanoid receptor-3 promotes oxidized low-density lipoprotein-induced human aortic smooth muscle cells inflammation., [RefSeq, PubMed]; PGE2 -EP3 axis promotes brown adipose tissue formation through stabilization of WTAP RNA methyltransferase., [RefSeq, PubMed]; PTGER3 knockdown inhibits the vulnerability of triple-negative breast cancer to ferroptosis., [RefSeq, PubMed]; Prostaglandin E2 receptor 3 promotes M1 macrophages polarization in unexplained recurrent pregnancy loss., [RefSeq, PubMed]; Receptor for prostaglandin E2 (PGE2) (PubMed:7883006, PubMed:7981210, PubMed:8117308, PubMed:8135729, PubMed:8307176). The activity of this receptor can couple to both the inhibition of adenylate cyclase mediated by G(i) proteins, and to an elevation of intracellular calcium (PubMed:7883006, PubMed:7981210, PubMed:8117308, PubMed:8135729). Required for normal development of fever in response to pyrinogens, including IL1B, prostaglandin E2 and bacterial lipopolysaccharide (LPS). Required for normal potentiation of platelet aggregation by prostaglandin E2, and thus plays a role in the regulation of blood coagulation. Required for increased HCO3(-) secretion in the duodenum in response to mucosal acidification, and thereby contributes to the protection of the mucosa against acid-induced ulceration. Not required for normal kidney function, normal urine volume and osmolality (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; The protein encoded by this gene is a member of the G-protein coupled receptor family. This protein is one of four receptors identified for prostaglandin E2 (PGE2). This receptor may have many biological functions, which involve digestion, nervous system, kidney reabsorption, and uterine contraction activities. Studies of the mouse counterpart suggest that this receptor may also mediate adrenocorticotropic hormone response as well as fever generation in response to exogenous and endogenous stimuli. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]., [RefSeq]; We identified a new mRNA splice variant of the EP3 gene in human gastric fundic mucosa, mammary artery and pulmonary vessels. This EP3-Ic transcript contains exons 1, 2, 3, 5 and 6 of the EP3 gene and should be translated in the EP3-I isoform., [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": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 7, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B0AZN4;B1AK19;B5BUP5;O00326;Q12943;Q12944;Q12945;Q147X8;Q16546;Q5CZ59;Q5CZ61;Q5CZ62;Q5CZ63;Q5CZ64", "ec_number_list": [], "go_molecular_function": "GO:0004957 prostaglandin E receptor activity", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0060455 negative regulation of gastric acid secretion;GO:0006954 inflammatory response;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007204 positive regulation of cytosolic calcium ion concentration", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "P43115-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43272-4", "uniprot_id": [ { "id": "PROD_HUMAN", "url": "https://www.uniprot.org/uniprot/O43272", "type": "external" } ], "mass": 68029.0, "length": 600, "protein_name": "Proline dehydrogenase 1, mitochondrial", "gene_name": "PRODH", "organism": "Human", "refseq_name": "proline dehydrogenase 1, mitochondrial isoform 2", "refseq_ac": [ { "id": "NP_001182155", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182155", "type": "external" } ], "gene_names_uniprotkb": "PRODH; PIG6; POX2; PRODH2", "gene_names_refseq": "HSPOX2; PIG6; POX; PRODH1; PRODH; TP53I6", "protein_names_uniprotkb": "Proline dehydrogenase 1, mitochondrial; 1.5.5.2; Proline oxidase 2; Proline oxidase; p53-induced gene 6 protein", "protein_names_refseq": "p53 Inducible gene 6; p53-induced gene 6 protein; proline dehydrogenase (oxidase) 1; proline dehydrogenase 1, mitochondrial isoform 2; proline dehydrogenase 1, mitochondrial; proline oxidase 2; proline oxidase, mitochondrial; tumor protein p53 inducible protein 6", "tax_id": 9606, "disease": "chromosome 22q11.2 deletion syndrome, distal (Disease Ontology:DOID:0060413); schizophrenia 4 (Disease Ontology:DOID:0070080); hyperprolinemia type 1 (Disease Ontology:DOID:0080542); schizophrenia (Disease Ontology:DOID:5419); amino acid metabolic disorder (Disease Ontology:DOID:9252)", "pathway": " (hsa:5625); (R-HSA-70688)", "pathway_count": 2, "publication_count": 20, "publication_id_list": "10192398;11891283;12217952;13681370;15662599;16959974;17135275;25697095;25892735;29632046;31848261;34944532;35367090;37564635;38255788;3944130;500817;9305847;9385373;9700195", "class_list": "", "function": "Converts proline to delta-1-pyrroline-5-carboxylate., [UniProtKB, PubMed]; Impact of COMT, PRODH and DISC1 Genetic Variants on Cognitive Performance of Patients with Schizophrenia., [RefSeq, PubMed]; Metformin Treatment or PRODH/POX-Knock out Similarly Induces Apoptosis by Reprograming of Amino Acid Metabolism, TCA, Urea Cycle and Pentose Phosphate Pathway in MCF-7 Breast Cancer Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Prognostic and immunomodulatory roles of schizophrenia-associated genes HTR2A, COMT, and PRODH in pan-cancer analysis and glioma survival prediction model. Publication Status: Online-Only, [RefSeq, PubMed]; Proline Dehydrogenase (PRODH) Is Expressed in Lung Adenocarcinoma and Modulates Cell Survival and 3D Growth by Inducing Cellular Senescence. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a mitochondrial protein that catalyzes the first step in proline degradation. Mutations in this gene are associated with hyperprolinemia type 1 and susceptibility to schizophrenia 4 (SCZD4). This gene is located on chromosome 22q11.21, a region which has also been associated with the contiguous gene deletion syndromes, DiGeorge and CATCH22. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A087WWM6;A6NF53;O14680;Q0P507;Q147W8;Q504W1;Q59FI8;Q6NV86;Q9UF13", "ec_number_list": [ { "id": "1.5.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.5.5.2", "type": "external" }, { "id": "1.5.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.5.5.3", "type": "external" } ], "go_molecular_function": "GO:0071949 FAD binding;GO:0004657 proline dehydrogenase activity;GO:0016649 oxidoreductase activity, acting on the CH-NH group of donors, quinone or similar compound as acceptor", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:1903376 regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway;GO:0019470 trans-4-hydroxy-L-proline catabolic process;GO:0006560 proline metabolic process;GO:0006562 L-proline catabolic process;GO:0010133 L-proline catabolic process to L-glutamate", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "O43272-4", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00559-1", "uniprot_id": [ { "id": "RCAS1_HUMAN", "url": "https://www.uniprot.org/uniprot/O00559", "type": "external" } ], "mass": 24377.0, "length": 213, "protein_name": "Receptor-binding cancer antigen expressed on SiSo cells", "gene_name": "EBAG9", "organism": "Human", "refseq_name": "receptor-binding cancer antigen expressed on SiSo cells", "refseq_ac": [ { "id": "NP_001265867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265867", "type": "external" } ], "gene_names_uniprotkb": "EBAG9; RCAS1", "gene_names_refseq": "EB9; EBAG9; PDAF", "protein_names_uniprotkb": "Receptor-binding cancer antigen expressed on SiSo cells; Cancer-associated surface antigen RCAS1; Estrogen receptor-binding fragment-associated gene 9 protein", "protein_names_refseq": "cancer-associated surface antigen RCAS1; estrogen receptor-binding fragment-associated gene 9 protein; receptor-binding cancer antigen expressed on SiSo cells 1; receptor-binding cancer antigen expressed on SiSo cells", "tax_id": 9606, "disease": "inflammatory bowel disease (Disease Ontology:DOID:0050589); pre-malignant neoplasm (Disease Ontology:DOID:0060071); colitis (Disease Ontology:DOID:0060180); mucositis (Disease Ontology:DOID:0080178); pre-eclampsia (Disease Ontology:DOID:10591); allergic conjunctivitis (Disease Ontology:DOID:11204); primary biliary cholangitis (Disease Ontology:DOID:12236); cystic fibrosis (Disease Ontology:DOID:1485); breast cancer (Disease Ontology:DOID:1612); cystitis (Disease Ontology:DOID:1679); colon cancer (Disease Ontology:DOID:219); ovarian cancer (Disease Ontology:DOID:2394); asthma (Disease Ontology:DOID:2841); endometrial adenocarcinoma (Disease Ontology:DOID:2870); endometriosis (Disease Ontology:DOID:289); breast ductal carcinoma (Disease Ontology:DOID:3007); invasive ductal carcinoma (Disease Ontology:DOID:3008); mucinous adenocarcinoma (Disease Ontology:DOID:3030); ischemia (Disease Ontology:DOID:326); uterine cancer (Disease Ontology:DOID:363); cervical cancer (Disease Ontology:DOID:4362); cholangiocarcinoma (Disease Ontology:DOID:4947); liver cirrhosis (Disease Ontology:DOID:5082); intestinal disease (Disease Ontology:DOID:5295); pneumonia (Disease Ontology:DOID:552); ulcerative colitis (Disease Ontology:DOID:8577); perinatal necrotizing enterocolitis (Disease Ontology:DOID:8677); Barrett's esophagus (Disease Ontology:DOID:9206)", "pathway": " (hsa:9166); (R-HSA-9018519)", "pathway_count": 2, "publication_count": 171, "publication_id_list": "10426319;10500157;10828826;10873660;11010967;11034064;11103799;11136970;11165043;11237011;11345900;11410592;11452016;11581164;11682626;12054692;12138241;12498683;12612073;12672804;12959972;14631847;14675539;15001666;15144186;15276198;15282324;15343269;15345050;15514030;15592455;15986123;16009131;16046058;16087863;16113099;1630819;16842844;16980581;17013392;17081983;17277772;17463000;17495528;17510434;17637753;17666587;17690249;18088087;18187655;18219272;18256232;18322535;18358809;18452278;18476782;18491316;18533032;18578522;18669648;18691976;18762174;18767875;18805503;19001364;19020303;19098913;19274700;19295514;19321454;19369195;19383337;19413330;19562805;19651622;19664994;19690332;19718048;20068231;20166139;20219941;20220130;20230923;20498280;20570965;20682797;21106759;21151129;21406692;21445275;21573489;2181374;21835891;21878914;21934649;21940756;22056668;22265404;22492511;22545144;22704330;23145106;23172872;23186163;23192763;23303788;23403292;23435229;23723241;23906331;24167369;24275569;24371278;24735615;24854081;24885040;24973012;24998469;25296600;25365482;25433557;25542856;25576301;25633194;25663755;25674852;25728767;26056233;26153859;26154972;26204489;26438059;26462610;26479350;27062924;27886276;28218747;28539435;2919170;29314611;29437277;29557506;29786170;30315122;30429286;3045126;30950002;31848261;31998317;3281094;32897882;32983136;3498214;35051231;35821635;35901351;3677090;7559524;7935485;7937828;8195246;8197458;8419924;8876171;9201922;9338790;9388265;9418891;9611253;9671459;9731700", "class_list": "", "function": "Data suggest that joint detection of receptor-binding cancer antigen expressed on SiSo cells (RCAS1) and carcinoembryonic antigen (CEA) can improve the diagnostic sensitivity and specificity., [RefSeq, PubMed]; EBAG9 silencing exerts an immune checkpoint function without aggravating adverse effects., [RefSeq, PubMed]; Expression of CD44v6 and RCAS1 in Uterine Cervical Carcinoma Infected with Human Papillomavirus and Its Effect on Cell Proliferation and Differentiation. Publication Status: Online-Only, [RefSeq, PubMed]; May participate in suppression of cell proliferation and induces apoptotic cell death through activation of interleukin-1-beta converting enzyme (ICE)-like proteases., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; Studied soluble cancer-associated surface antigen (srCaS1) levels as a biomarker for survival in endometrial cancer. Found elevated serum sRCAS1 to be associated with shortened overall survival in endometrial cancer patients., [RefSeq, PubMed]; This gene was identified as an estrogen-responsive gene. Regulation of transcription by estrogen is mediated by estrogen receptor, which binds to the estrogen-responsive element found in the 5'-flanking region of this gene. The encoded protein is a tumor-associated antigen that is expressed at high frequency in a variety of cancers. Alternate splicing results in multiple transcript variants. A pseudogene of this gene has been defined on chromosome 10. [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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "predictive", "glycan_count": 0, "disease_count": 28, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K3N6;Q5Y8C7;Q6IB20;Q9BS76", "ec_number_list": [], "go_molecular_function": "GO:0016505 peptidase activator activity involved in apoptotic process", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0030141 secretory granule", "go_biological_process": "GO:0001558 regulation of cell growth;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 17.2, "record_id": "O00559-1", "record_type": "protein", "filter_code": "0010000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43304-1", "uniprot_id": [ { "id": "S14L5_HUMAN", "url": "https://www.uniprot.org/uniprot/O43304", "type": "external" } ], "mass": 78942.0, "length": 696, "protein_name": "SEC14-like protein 5", "gene_name": "SEC14L5", "organism": "Human", "refseq_name": "SEC14-like protein 5", "refseq_ac": [ { "id": "NP_055507", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055507", "type": "external" } ], "gene_names_uniprotkb": "SEC14L5; KIAA0420", "gene_names_refseq": "PRELID4B; SEC14L5", "protein_names_uniprotkb": "SEC14-like protein 5", "protein_names_refseq": "SEC14-like 5; SEC14-like protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:9717)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;26154972;27846572;27997584;28832583;29393594;29557506;30429286;31154438;31844290;31848261;32157095;32357974;32488085;33392160;35051231", "class_list": "", "function": "This analysis revealed highly connected functional interaction networks with two candidate genes, IL15 and SEC14L5 highly enriched in networks. Overall, from these results, we concluded that these genes can be recommended as some of the potential targets for Post-Traumatic Stress Disorder. 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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005758 mitochondrial intermembrane space", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "O43304-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6L8Q7-1", "uniprot_id": [ { "id": "PDE12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6L8Q7", "type": "external" } ], "mass": 67352.0, "length": 609, "protein_name": "2',5'-phosphodiesterase 12", "gene_name": "PDE12", "organism": "Human", "refseq_name": "2',5'-phosphodiesterase 12 isoform 1 precursor", "refseq_ac": [ { "id": "NP_808881", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_808881", "type": "external" } ], "gene_names_uniprotkb": "PDE12", "gene_names_refseq": "2'-PDE; 2-PDE; PDE12", "protein_names_uniprotkb": "2',5'-phosphodiesterase 12; 2'-PDE; 2-PDE; 3.1.13.4; 3.1.4.-; Mitochondrial deadenylase", "protein_names_refseq": "2',5'-phosphodiesterase 12 isoform 1 precursor; 2',5'-phosphodiesterase 12; 2'-phosphodiesterase; mitochondrial deadenylase", "tax_id": 9606, "disease": "", "pathway": " (hsa:201626); (R-HSA-8983711)", "pathway_count": 2, "publication_count": 96, "publication_id_list": "10464285;11237011;11265282;11980899;11986302;15231837;18452278;18669648;19415658;20068231;20445249;20877624;21245038;21666256;22285541;23084743;23186163;23319625;23481700;24500209;24578532;24715725;24931123;25275129;25352621;25540362;25576301;25645385;25775560;25880248;25892109;26055709;26154972;26375851;26760998;26858407;26992070;27846572;28218747;28228285;28514659;28832583;28834231;28855257;28904123;29242379;29437277;29493099;29508533;29557506;29786170;30315122;30389976;30410026;30429286;30779550;30833945;31092671;31844290;31848261;31998317;32157095;32161166;32350084;32488085;32502341;32897882;32938616;32983136;33298915;3350819;33592498;33691108;33717175;33912179;33968037;33981976;34019948;34171305;34229054;34357683;34932366;35051231;35251023;35561310;35580925;36241641;36284347;36307540;38325798;40914422;6190010;7539425;9407111;9847332;9880569", "class_list": "", "function": "2'-PDE locates to the mitochondrial matrix of human cells, and comprise an active 3'-5' exoribonuclease exhibiting a preference for oligo-adenosine RNA like canonical cytoplasmic deadenylases., [RefSeq, PubMed]; 2'-phosphodiesterase is a mitochondrial protein that specifically removes poly(A) extensions from mitochondrial mRNAs both in vitro and in mitochondria of cultured cells., [RefSeq, PubMed]; Crystals of phosphodiesterase 12 belonged to space group P3(1)21 or P3(2)21, with unit-cell parameters a = b = 111.3, c = 192.4 A, and diffracted to 2.5 A resolution., [RefSeq, PubMed]; Enzyme that cleaves 2',5'-phosphodiester bond linking adenosines of the 5'-triphosphorylated oligoadenylates, triphosphorylated oligoadenylates referred as 2-5A modulates the 2-5A system. Degrades triphosphorylated 2-5A to produce AMP and ATP (PubMed:26055709). Also cleaves 3',5'-phosphodiester bond of oligoadenylates (PubMed:21666256, PubMed:26055709, PubMed:30389976). Plays a role as a negative regulator of the 2-5A system that is one of the major pathways for antiviral and antitumor functions induced by interferons (IFNs). Suppression of this enzyme increases cellular 2-5A levels and decreases viral replication in cultured small-airway epithelial cells and Hela cells (PubMed:26055709)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; PDE12 disrupts mitochondrial oxidative phosphorylation and mediates mitochondrial dysfunction to induce oral mucosal epithelial barrier damage in oral submucous fibrosis., [RefSeq, PubMed]; PDE12 in type 1 diabetes. Publication Status: Online-Only, [RefSeq, PubMed]; PDE12 is a negative regulator of the antiviral innate immune response., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B4DTU8;Q8IYU3;Q8NDU2;Q8TE78", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.1.13.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.4", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0004527 exonuclease activity;GO:0000175 3'-5'-RNA exonuclease activity;GO:0004535 poly(A)-specific ribonuclease activity;GO:0003824 catalytic activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005829 cytosol", "go_biological_process": "GO:0035457 cellular response to interferon-alpha;GO:0071359 cellular response to dsRNA;GO:0006397 mRNA processing;GO:0051607 defense response to virus;GO:0071346 cellular response to type II interferon", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "Q6L8Q7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96NR3-1", "uniprot_id": [ { "id": "PTHD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96NR3", "type": "external" } ], "mass": 101341.0, "length": 888, "protein_name": "Patched domain-containing protein 1", "gene_name": "PTCHD1", "organism": "Human", "refseq_name": "patched domain-containing protein 1", "refseq_ac": [ { "id": "NP_775766", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775766", "type": "external" } ], "gene_names_uniprotkb": "PTCHD1", "gene_names_refseq": "AUTSX4; CXDELp22.11; DELXP22.11; PTCHD1; SLC65C1", "protein_names_uniprotkb": "Patched domain-containing protein 1", "protein_names_refseq": "patched domain-containing protein 1", "tax_id": 9606, "disease": "attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); autistic disorder (Disease Ontology:DOID:12849); autism, susceptibility to, X-linked 4 (MONDO:MONDO:0010440)", "pathway": " (hsa:139411)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "10.1101/2023.09.13.557529;11237011;20531469;20844286;21091464;24714562;25131214;25782667;26539891;29331515;30779550;31540669;32161166;33856728;35051231;36769003;37938771;38007613;38275824", "class_list": "", "function": "Both common and rare PTCHD1 variants contribute to autism spectrum disorder., [RefSeq, PubMed]; CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction., [RefSeq, PubMed]; Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism., [RefSeq, PubMed]; Nonsynonymous Mutations in Intellectual Disability and Autism Spectrum Disorder Gene PTCHD1 Disrupt N-Glycosylation and Reduce Protein Stability. Publication Status: Online-Only, [RefSeq, PubMed]; Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder., [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Required for the development and function of the thalamic reticular nucleus (TRN), a part of the thalamus that is critical for thalamocortical transmission, generation of sleep rhythms, sensorimotor processing and attention. Can bind cholesterol in vitro (PubMed:36769003)., [UniProtKB, UniProtKB, PubMed]; Synaptic Dysfunction in Human Neurons With Autism-Associated Deletions in PTCHD1-AS., [RefSeq, PubMed]; Systematic screen of PTCHD1 and its 5' flanking regions suggests that this locus is involved in ~1% of individuals with autism spectrum disorder and intellectual disability., [RefSeq, PubMed]; This gene encodes a membrane protein with a patched domain. The encoded protein is similar to Drosophila proteins which act as receptors for the morphogen sonic hedgehog. Deletions in this gene, which is located on the X chromosome, are associated with intellectual disability and autism (PMID: 21091464, PMID: 20844286). [provided by RefSeq, Aug 2011]., [RefSeq]", "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": 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": 28, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "B4DQH0;Q0IJ60;Q6P6B8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043197 dendritic spine;GO:0045202 synapse", "go_biological_process": "GO:0050890 cognition;GO:0007268 chemical synaptic transmission;GO:0035176 social behavior;GO:0007224 smoothened signaling pathway;GO:0021794 thalamus development", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q96NR3-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A1L1A6-1", "uniprot_id": [ { "id": "IGS23_HUMAN", "url": "https://www.uniprot.org/uniprot/A1L1A6", "type": "external" } ], "mass": 20591.0, "length": 192, "protein_name": "Immunoglobulin superfamily member 23", "gene_name": "IGSF23", "organism": "Human", "refseq_name": "immunoglobulin superfamily member 23", "refseq_ac": [ { "id": "NP_001192209", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001192209", "type": "external" } ], "gene_names_uniprotkb": "IGSF23", "gene_names_refseq": "IGSF23", "protein_names_uniprotkb": "Immunoglobulin superfamily member 23", "protein_names_refseq": "immunoglobulin superfamily member 23", "tax_id": 9606, "disease": "", "pathway": " (hsa:147710)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;31560140", "class_list": "", "function": "May be involved in osteoclast differentiation., [UniProtKB, UniProtKB]; This gene encodes a protein that has one immunoglobulin (Ig) domain and is a member of the immunoglobulin superfamily. Proteins in this superfamily are usually found on or in cell membranes and act as receptors in immune response pathways. [provided by RefSeq, Nov 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": 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:0005886 plasma membrane", "go_biological_process": "GO:0030316 osteoclast differentiation;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A1L1A6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A1B0GVH4-1", "uniprot_id": [ { "id": "PRS51_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A1B0GVH4", "type": "external" } ], "mass": 25576.0, "length": 220, "protein_name": "Serine protease-like protein 51", "gene_name": "PRSS51", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "PRSS51", "gene_names_refseq": "", "protein_names_uniprotkb": "Serine protease-like protein 51", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:346702)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "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": 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:0004252 serine-type endopeptidase activity;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane", "go_biological_process": "GO:0016485 protein processing;GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A1B0GVH4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96HE9-1", "uniprot_id": [ { "id": "PRR11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96HE9", "type": "external" } ], "mass": 40085.0, "length": 360, "protein_name": "Proline-rich protein 11", "gene_name": "PRR11", "organism": "Human", "refseq_name": "proline-rich protein 11", "refseq_ac": [ { "id": "NP_060774", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060774", "type": "external" } ], "gene_names_uniprotkb": "PRR11", "gene_names_refseq": "PRR11", "protein_names_uniprotkb": "Proline-rich protein 11", "protein_names_refseq": "proline-rich protein 11; transcription repressor of MHCII", "tax_id": 9606, "disease": "", "pathway": " (hsa:55771)", "pathway_count": 1, "publication_count": 74, "publication_id_list": "11237011;17081983;17672918;18669648;19007248;19664995;19691289;20058876;20068231;23186163;23242552;23246489;23481700;24715725;25418920;25576301;25666944;26154972;26929215;26992070;27600516;27846572;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29437277;29493099;29557506;30192525;30315122;30379171;30524438;30779550;30833945;31092671;31154438;31530632;31844290;31848261;31937595;32157095;32161166;32357974;32387766;32502341;32897882;32938616;33141586;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34433824;34509645;34561969;35051231;35561310;36010968;36734441;36739300;37036189;37641376;37938771;38427643", "class_list": "", "function": "Clinical significance and effect of PRR 11 up-regulation on the malignancy of osteosarcoma., [RefSeq, PubMed]; ELF1/PRR11/ARP2/3 promoted trophoblast cells proliferation and motility in early pregnancy., [RefSeq, PubMed]; Our results strongly demonstrated that this newly identified gene, PRR11, had a critical role in both cell cycle progression and tumorigenesis, and might serve as a novel potential target in the diagnosis and/or treatment of human lung cancer., [RefSeq, PubMed]; Overexpression of PRR11 inhibits cell proliferation and induces premature chromatin condensation., [RefSeq, PubMed]; PRR11 is a prognostic biomarker and correlates with immune infiltrates in bladder urothelial carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a critical role in cell cycle progression., [UniProtKB, PubMed]; Predictive significance of PRR11 in prognosis and immune infiltration of glioma patients., [RefSeq, PubMed]; Prognostic value of PRR11 and immune cell infiltration in Ewing sarcoma. Publication Status: Online-Only, [RefSeq, PubMed]; The apparent occurrence of an unusual TG 3' splice site in intron 10 is discussed, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9NUZ7;Q9NXE9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "GO:0051726 regulation of cell cycle", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q96HE9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q53HV7-1", "uniprot_id": [ { "id": "SMUG1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q53HV7", "type": "external" } ], "mass": 29862.0, "length": 270, "protein_name": "Single-strand selective monofunctional uracil DNA glycosylase", "gene_name": "SMUG1", "organism": "Human", "refseq_name": "single-strand selective monofunctional uracil DNA glycosylase isoform 1", "refseq_ac": [ { "id": "NP_001230716", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230716", "type": "external" } ], "gene_names_uniprotkb": "SMUG1", "gene_names_refseq": "FDG; HMUDG; SMUG1; UNG3", "protein_names_uniprotkb": "Single-strand selective monofunctional uracil DNA glycosylase; 3.2.2.-", "protein_names_refseq": "single-strand selective monofunctional uracil DNA glycosylase isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:23583); (R-HSA-110328); (R-HSA-110329); (R-HSA-110357)", "pathway_count": 4, "publication_count": 47, "publication_id_list": "10074426;10882850;10930409;11056019;11139613;11160897;11237011;11526119;11889051;11904416;12097317;12140329;12161446;12456671;12519758;12718543;12820976;15341901;15466595;15479784;15713479;15823533;16221681;17537817;18805789;21722948;22569481;22848106;22962365;25086253;26095805;27354518;31092671;31844290;33573186;33871441;34097065;35051231;37938771;8218289;8407958;8662714;9200707;9705289;9724657;9811839;9890904", "class_list": "", "function": "Ablation of SMUG1 Reduces Cell Viability and Increases UVC-Mediated Apoptosis in Hepatocarcinoma HepG2 Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic variations in 3'UTRs of SMUG1 and NEIL2 genes modulate breast cancer risk, survival and therapy response., [RefSeq, PubMed]; HSMUG1 is a broad specificity backup for hUNG2, the major enzyme for removal of deaminated cytosine in single strnaded DNA, [RefSeq, PubMed]; Recognizes base lesions in the genome and initiates base excision DNA repair. Acts as a monofunctional DNA glycosylase specific for uracil (U) residues in DNA with a preference for single-stranded DNA substrates. The activity is greater toward mismatches (U/G) compared to matches (U/A). Excises uracil (U), 5-formyluracil (fU) and uracil derivatives bearing an oxidized group at C5 [5-hydroxyuracil (hoU) and 5-hydroxymethyluracil (hmU)] in ssDNA and dsDNA, but not analogous cytosine derivatives (5-hydroxycytosine and 5-formylcytosine), nor other oxidized bases. The activity is damage-specific and salt-dependent. The substrate preference is the following: ssDNA > dsDNA (G pair) = dsDNA (A pair) at low salt concentration, and dsDNA (G pair) > dsDNA (A pair) > ssDNA at high salt concentration., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; The structure and specificity of SMUG1 have been solved., [RefSeq, PubMed]; This enzyme has a role in repair of 5-formyluracil and other oxidized and deaminated base lesions., [RefSeq, PubMed]; This gene encodes a protein that participates in base excision repair by removing uracil from single- and double-stranded DNA. Many alternatively spliced transcript variants exist for this gene; the full-length nature is known for some but not all of the variants. [provided by RefSeq, Aug 2011]., [RefSeq]; [Comparative Analysis of the Activity of the Polymorphic Variants of Human Uracil-DNA-Glycosylases SMUG1 and MBD4]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 13, "reported_glycation": 0, "reported_snv": 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": "A8K2K9;O95862;Q0D2M0;Q8NB71;Q9BWC8", "ec_number_list": [ { "id": "3.1.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.2", "type": "external" }, { "id": "3.1.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.21.-", "type": "external" }, { "id": "3.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.-", "type": "external" } ], "go_molecular_function": "GO:0003677 DNA binding;GO:0042802 identical protein binding;GO:0019104 DNA N-glycosylase activity;GO:0004844 uracil DNA N-glycosylase activity;GO:0017065 single-strand selective uracil DNA N-glycosylase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0001650 fibrillar center", "go_biological_process": "GO:0006284 base-excision repair;GO:0045008 depyrimidination", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q53HV7-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01591-1", "uniprot_id": [ { "id": "IGJ_HUMAN", "url": "https://www.uniprot.org/uniprot/P01591", "type": "external" } ], "mass": 18099.0, "length": 159, "protein_name": "Immunoglobulin J chain", "gene_name": "JCHAIN", "organism": "Human", "refseq_name": "immunoglobulin J chain precursor", "refseq_ac": [ { "id": "NP_653247", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_653247", "type": "external" } ], "gene_names_uniprotkb": "JCHAIN; IGCJ; IGJ", "gene_names_refseq": "IGCJ; IGJ; JCHAIN; JCH", "protein_names_uniprotkb": "Immunoglobulin J chain; Joining chain of multimeric IgA and IgM", "protein_names_refseq": "IgJ chain; immunoglobulin J chain precursor; immunoglobulin J chain; immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides", "tax_id": 9606, "disease": "", "pathway": " (hsa:3512); (R-HSA-202733); (R-HSA-2168880)", "pathway_count": 3, "publication_count": 161, "publication_id_list": "40667337;1008494;10381560;10606205;10764623;108268;11196644;11207550;11237011;11256994;11564780;11779189;11812992;11877257;12070135;12208882;12469115;1252417;12782713;13342742;13472068;14529530;14615387;1472500;15000751;15084671;15448162;15528364;15542058;15681301;15697213;15721307;1591491;15947085;16046400;16189277;16258728;16297198;16335952;1646599;16585556;16691243;16737840;16740002;16778136;16783819;17008602;17064312;17099249;17102136;17116209;17167768;17172599;17322099;17379836;17442946;17452516;17505016;17525755;17563375;17580308;17600130;17615384;17625065;17845074;18556779;18780401;19139490;19159218;19279206;19324878;19650691;20030399;20430887;20920479;21193412;21659548;22492620;22922649;23090970;23945545;24043627;24190977;24764293;24766575;24841998;2538457;25502872;25576301;25802287;25892735;25946035;26510530;26598643;27846572;27862975;2806549;28228285;2833500;29391424;29427759;29557506;29671580;29741879;29786170;2984306;30115740;30237853;30315122;30459171;31154438;31844290;31998317;32029686;32029689;32125861;32157095;32295785;32350084;32357974;32502341;32983136;33691108;33717175;34725484;34932366;35051231;35154160;35580925;36284347;36581221;37074911;37539706;3891754;4074707;407930;4327491;468991;496916;5135507;6480598;6849882;7263686;7287740;7378053;7509040;7521878;8163559;8166770;8314844;8424694;8855948;9029102;9052782;9169774;9242610;9295288;9382878;9693095;971416;9763524", "class_list": "", "function": "IGJ suppresses breast cancer growth and metastasis by inhibiting EMT via the NF-kappaB signaling pathway., [RefSeq, PubMed]; Serves to link two monomer units of either IgM or IgA. In the case of IgM, the J chain-joined dimer is a nucleating unit for the IgM pentamer, and in the case of IgA it induces dimers and/or larger polymers. It also helps to bind these immunoglobulins to secretory component., [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": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 174, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0034987 immunoglobulin receptor binding;GO:0030674 protein-macromolecule adaptor activity;GO:0042803 protein homodimerization activity;GO:0019862 IgA binding;GO:0003823 antigen binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0070062 extracellular exosome;GO:0072562 blood microparticle;GO:0071748 monomeric IgA immunoglobulin complex", "go_biological_process": "GO:0006955 immune response;GO:0019731 antibacterial humoral response;GO:0045087 innate immune response;GO:0002250 adaptive immune response;GO:0006959 humoral immune response", "synthesized_glycan_count": 0, "hit_score": 34.1, "record_id": "P01591-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100100000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96K19-1", "uniprot_id": [ { "id": "RN170_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96K19", "type": "external" } ], "mass": 29815.0, "length": 258, "protein_name": "E3 ubiquitin-protein ligase RNF170", "gene_name": "RNF170", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RNF170 isoform a", "refseq_ac": [ { "id": "NP_001153695", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153695", "type": "external" } ], "gene_names_uniprotkb": "RNF170", "gene_names_refseq": "ADSA; RNF170; SNAX1; SPG85", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RNF170; 2.3.2.27; Putative LAG1-interacting protein; RING finger protein 170; RING-type E3 ubiquitin transferase RNF170", "protein_names_refseq": "E3 ubiquitin-protein ligase RNF170 isoform a; E3 ubiquitin-protein ligase RNF170; RING-type E3 ubiquitin transferase RNF170; putative LAG1-interacting protein", "tax_id": 9606, "disease": "hereditary ataxia (Disease Ontology:DOID:0050951); autosomal dominant sensory ataxia 1 (Disease Ontology:DOID:0111170); hereditary spastic paraplegia 85 (Disease Ontology:DOID:0112345); hereditary spastic paraplegia (Disease Ontology:DOID:2476)", "pathway": " (hsa:81790)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11230166;11237011;21115467;21610068;25882839;27543614;27846572;29557506;30429286;31076723;31636353;31844290;32350084;32938616;33165979;34469621;35041108;35051231", "class_list": "", "function": "Aberrant ubiquitination of substrates, or cellular adaptation to chronically reduced RNF170 levels likely accounts for the autosomal dominant sensory ataxia-associated Ca2+ signaling deficit, [RefSeq, PubMed]; E3 ubiquitin-protein ligase that plays an essential role in stimulus-induced inositol 1,4,5-trisphosphate receptor type 1 (ITPR1) ubiquitination and degradation via the endoplasmic reticulum-associated degradation (ERAD) pathway. Also involved in ITPR1 turnover in resting cells. Selectively inhibits the TLR3-triggered innate immune response by promoting the 'Lys-48'-linked polyubiquitination and degradation of TLR3 (PubMed:31076723)., [UniProtKB, PubMed, PubMed]; Mutations in the ubiquitin E3 ligase gene RNF170, which targets inositol 1,4,5-trisphosphate receptors for degradation, are the likely cause of autosomal recessive HSP in four unrelated families and functionally evaluate the consequences of mutations in patient fibroblasts and mutant SH-SY5Y cells. Our findings highlight inositol 1,4,5-trisphosphate signaling as a candidate key pathway for hereditary spastic paraplegias. Publication Status: Online-Only, [RefSeq, PubMed]; RNF170 mutation causes autosomal dominant sensory ataxia with variable pyramidal involvement., [RefSeq, PubMed]; RNF170 plays an essential role in IP(3) receptor processing via the ubiquitin-proteasome pathway., [RefSeq, PubMed]; RNF170-Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutation., [RefSeq, PubMed]; This gene encodes a RING domain-containing protein that resides in the endoplasmic reticulum (ER) membrane. This protein functions as an E3 ubiquitin ligase and mediates ubiquitination and processing of inositol 1,4,5-trisphosphate (IP3) receptors via the ER-associated protein degradation pathway. It is recruited to the activated IP3 receptors by the ERLIN1/ERLIN2 complex to which it is constitutively bound. Mutations in this gene are associated with autosomal dominant sensory ataxia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]., [RefSeq]; Together these results suggest that the mutation in RNF170 is causal for the sensory ataxia, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DSY6;E9PIL4;Q7Z483;Q86YC0;Q8IXR7;Q8N2B5;Q8N5G9;Q8NG30;Q9H0V6", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0070936 protein K48-linked ubiquitination;GO:0034140 negative regulation of toll-like receptor 3 signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q96K19-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IZ63-1", "uniprot_id": [ { "id": "PRR22_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IZ63", "type": "external" } ], "mass": 43980.0, "length": 422, "protein_name": "Proline-rich protein 22", "gene_name": "PRR22", "organism": "Human", "refseq_name": "proline-rich protein 22", "refseq_ac": [ { "id": "NP_001127788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127788", "type": "external" } ], "gene_names_uniprotkb": "PRR22", "gene_names_refseq": "PRR22", "protein_names_uniprotkb": "Proline-rich protein 22", "protein_names_refseq": "proline-rich protein 22", "tax_id": 9606, "disease": "", "pathway": " (hsa:163154)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;15146197;16341674;31844290;35051231", "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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "E9PB31", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8IZ63-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UQ74-1", "uniprot_id": [ { "id": "PSG8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UQ74", "type": "external" } ], "mass": 47772.0, "length": 426, "protein_name": "Pregnancy-specific beta-1-glycoprotein 8", "gene_name": "PSG8", "organism": "Human", "refseq_name": "pregnancy-specific beta-1-glycoprotein 8 isoform b precursor", "refseq_ac": [ { "id": "NP_001123639", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123639", "type": "external" } ], "gene_names_uniprotkb": "PSG8", "gene_names_refseq": "PSG8", "protein_names_uniprotkb": "Pregnancy-specific beta-1-glycoprotein 8; PS-beta-G-8; PSBG-8; Pregnancy-specific glycoprotein 8", "protein_names_refseq": "C1 alternate; C2 alternate; C3 alternate; PS-beta-G-8; PSBG-8; pregnancy-specific beta-1-glycoprotein 8 isoform b precursor; pregnancy-specific glycoprotein 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:440533); (R-HSA-202733)", "pathway_count": 2, "publication_count": 63, "publication_id_list": "10606205;10686536;10764623;11207550;11237011;11256994;11564780;11779189;11812992;12070135;12208882;12469115;12782713;14529530;14615387;15000751;15528364;15681301;15721307;1591491;16258728;16297198;16585556;16691243;16737840;16783819;17064312;17099249;17116209;17167768;17172599;17322099;17379836;17442946;17452516;17505016;17525755;17563375;17580308;17600130;17615384;17625065;19279206;21193412;21659548;23945545;24043627;24764293;2538457;25576301;468991;7509040;7521878;8163559;8166770;8314844;9052782;9169774;9242610;9295288;9382878;9693095;9763524", "class_list": "", "function": "The human pregnancy-specific glycoproteins (PSGs) are a group of molecules that are mainly produced by the placental syncytiotrophoblasts during pregnancy. PSGs comprise a subgroup of the carcinoembryonic antigen (CEA) family, which belongs to the immunoglobulin superfamily. For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009]., [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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 41, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A5PKV3;B2RPL4;B4DTI6;O60410;Q68CR6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q9UQ74-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96H72-1", "uniprot_id": [ { "id": "S39AD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96H72", "type": "external" } ], "mass": 39011.0, "length": 371, "protein_name": "Zinc transporter ZIP13", "gene_name": "SLC39A13", "organism": "Human", "refseq_name": "zinc transporter ZIP13 isoform c precursor", "refseq_ac": [ { "id": "NP_001317174", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317174", "type": "external" } ], "gene_names_uniprotkb": "SLC39A13; ZIP13", "gene_names_refseq": "EDSSPD3; LZT-Hs9; SCDEDS; SLC39A13; ZIP13", "protein_names_uniprotkb": "Zinc transporter ZIP13; LIV-1 subfamily of ZIP zinc transporter 9; LZT-Hs9; Solute carrier family 39 member 13; ZIP-13; Zrt- and Irt-like protein 13", "protein_names_refseq": "LIV-1 subfamily of ZIP zinc transporter 9; LIV-1 subfamily of ZIP zinc transporters human member 9; ZRT/IRT-like protein 13; solute carrier family 39 (metal ion transporter), member 13; solute carrier family 39 (zinc transporter), member 13; zinc transporter 13; zinc transporter ZIP13 isoform c precursor; zinc transporter ZIP13; zrt- and Irt-like protein 13", "tax_id": 9606, "disease": "alcohol-associated liver disease (Disease Ontology:DOID:0070658); Ehlers-Danlos syndrome spondylodysplastic type 3 (Disease Ontology:DOID:0080739); Ehlers-Danlos syndrome (Disease Ontology:DOID:13359)", "pathway": " (hsa:91252)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11237011;18513683;18985159;21739577;21917916;23213233;25892735;29769354;31844290;32157095;32295219;32938616;33968037;34154618;34171305;35051231;36241641;38609428", "class_list": "", "function": "Biochemical characterization of human ZIP13 protein: a homo-dimerized zinc transporter involved in the spondylocheiro dysplastic Ehlers-Danlos syndrome., [RefSeq, PubMed]; Clinical features of 6 patients from 2 consanguineous families with Ehlers-Danlos syndrome-like features caused by a mutation in the zinc transporter gene SLC39A13, [RefSeq, PubMed]; Functions as a zinc transporter transporting Zn(2+) from the Golgi apparatus to the cytosol and thus influences the zinc level at least in areas of the cytosol (PubMed:21917916, PubMed:23213233). May regulate beige adipocyte differentiation (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Mutations in the SLC39A13 gene do not account for the Ehlers-Danlos syndrome type VIB phenotype, [RefSeq, PubMed]; Possible involvement of zinc transporter ZIP13 in myogenic differentiation. Publication Status: Online-Only, [RefSeq, PubMed]; The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers-Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the LIV-1 subfamily of the ZIP transporter family. The encoded transmembrane protein functions as a zinc transporter. Mutations in this gene have been associated with the spondylocheiro dysplastic form of Ehlers-Danlos syndrome. Alternate transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]., [RefSeq]; Zinc transporter SLC39A13/ZIP13 facilitates the metastasis of human ovarian cancer cells via activating Src/FAK 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DQR6;D3DQR7;E9PLY1;E9PQV3;Q659D9;Q8N7C9;Q8WV10", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0005385 zinc ion transmembrane transporter activity;GO:0042803 protein homodimerization activity;GO:0046873 metal ion transmembrane transporter activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0016020 membrane;GO:0048471 perinuclear region of cytoplasm;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0071577 zinc ion transmembrane transport;GO:0006829 zinc ion transport;GO:0050873 brown fat cell differentiation;GO:0006882 intracellular zinc ion homeostasis;GO:0061448 connective tissue development", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q96H72-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35241-1", "uniprot_id": [ { "id": "RADI_HUMAN", "url": "https://www.uniprot.org/uniprot/P35241", "type": "external" } ], "mass": 68564.0, "length": 583, "protein_name": "Radixin", "gene_name": "RDX", "organism": "Human", "refseq_name": "radixin isoform 1", "refseq_ac": [ { "id": "NP_001247421", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001247421", "type": "external" } ], "gene_names_uniprotkb": "RDX", "gene_names_refseq": "DFNB24; RDX", "protein_names_uniprotkb": "Radixin", "protein_names_refseq": "radixin isoform 1", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness 24 (Disease Ontology:DOID:0110482); Dubin-Johnson syndrome (Disease Ontology:DOID:12308)", "pathway": " (hsa:5962); (R-HSA-437239); (R-HSA-9662360); (R-HSA-9662361)", "pathway_count": 4, "publication_count": 112, "publication_id_list": "10025409;10608864;10747093;10804209;10818153;10821263;11163272;11237011;12082080;12942088;16330023;17226784;18452278;18478542;18991276;19278660;20068231;23481700;2448316;24714562;24715725;25418920;25502872;25576301;25645385;26154972;26375851;26500117;26992070;27452731;27543614;27600516;27846572;27862975;27920218;28218747;28467828;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30410026;30429286;30779550;30833945;31154438;31530632;31844290;31848261;31998317;32157095;32161166;32162841;32350084;32357974;32488085;32502341;32897882;32938616;32983136;33043033;33123756;33141586;33298915;33592498;33691108;33717175;33936100;33968037;34019948;34087483;34171305;34211107;34229054;34357683;34725712;34932366;35008409;35051231;35154160;35251023;35267019;35318648;35459695;35561310;35580925;36010968;36215666;36240223;36241641;37217939;37938771;38665916;40596516;40914422;7493978;8486357;9430655;9456324;9651214;9721721", "class_list": "", "function": "Probably plays a crucial role in the binding of the barbed end of actin filaments to the plasma membrane., [UniProtKB]; Radixin is a cytoskeletal protein that may be important in linking actin to the plasma membrane. It is highly similar in sequence to both ezrin and moesin. The radixin gene has been localized by fluorescence in situ hybridization to 11q23. A truncated version representing a pseudogene (RDXP2) was assigned to Xp21.3. Another pseudogene that seemed to lack introns (RDXP1) was mapped to 11p by Southern and PCR analyses. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "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": "A7YIJ8;A7YIK0;A7YIK3;B7Z9U6;F5H1A7;Q86Y61", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003779 actin binding;GO:0019904 protein domain specific binding;GO:0051117 ATPase binding;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0005912 adherens junction;GO:0005925 focal adhesion;GO:0030027 lamellipodium", "go_biological_process": "GO:1902966 positive regulation of protein localization to early endosome;GO:0032487 regulation of Rap protein signal transduction;GO:0061028 establishment of endothelial barrier;GO:1902115 regulation of organelle assembly;GO:0010628 positive regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 11.6, "record_id": "P35241-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51460-1", "uniprot_id": [ { "id": "INSL3_HUMAN", "url": "https://www.uniprot.org/uniprot/P51460", "type": "external" } ], "mass": 14502.0, "length": 131, "protein_name": "Insulin-like 3", "gene_name": "INSL3", "organism": "Human", "refseq_name": "insulin-like 3 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001252516", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001252516", "type": "external" } ], "gene_names_uniprotkb": "INSL3; RLF; RLNL", "gene_names_refseq": "INSL3; RLF; RLNL; ley-I-L", "protein_names_uniprotkb": "Insulin-like 3; Ley-I-L; Leydig insulin-like peptide; Relaxin-like factor", "protein_names_refseq": "insulin-like 3 (Leydig cell); insulin-like 3 isoform 1 precursor; leydig insulin -like hormone; leydig insulin-like peptide; prepro-INSL3; relaxin-like factor b", "tax_id": 9606, "disease": "cryptorchidism (Disease Ontology:DOID:11383)", "pathway": " (hsa:3640); (R-HSA-418555); (R-HSA-444821)", "pathway_count": 3, "publication_count": 75, "publication_id_list": "10729310;10759163;11007482;11095425;11182749;11237011;11380919;11383919;11746019;12036966;12058044;12106601;12114498;12180353;12506116;12601553;12860470;13549488;14522967;14522968;14671004;1517224;15340161;15525639;15765929;15769620;15951850;16313925;16687412;16867980;16923326;17168849;18044684;18577758;19086273;19105585;19876791;19929708;20381629;21036126;2163110;2417744;24687066;2491850;2553411;2553705;26417854;2871555;29443750;29602314;30833991;3127824;31279028;31399091;31983287;32226383;32497535;32540603;32618402;32715661;33049737;35666805;37208861;37421657;37830594;6085243;7852540;8020942;8034302;8340388;8514797;8672451;9263355;9417641;9651336", "class_list": "", "function": "Bi-allelic variants in INSL3 and RXFP2 cause bilateral cryptorchidism and male infertility., [RefSeq, PubMed]; New JAK3-INSL3 Fusion Transcript-An Oncogenic Event in Cutaneous T-Cell Lymphoma. Publication Status: Online-Only, [RefSeq, PubMed]; Seems to play a role in testicular function. May be a trophic hormone with a role in testicular descent in fetal life. Is a ligand for LGR8 receptor., [UniProtKB]; The impact of acute SARS-CoV-2 on testicular function including insulin-like factor 3 (INSL3) in men with mild COVID-19: A longitudinal study., [RefSeq, PubMed]; The nuclear receptors SF1 and COUP-TFII cooperate on the Insl3 promoter in Leydig cells. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the insulin-like hormone superfamily. The encoded protein is mainly produced in gonadal tissues. Studies of the mouse counterpart suggest that this gene may be involved in the development of urogenital tract and female fertility. This protein may also act as a hormone to regulate growth and differentiation of gubernaculum, and thus mediating intra-abdominal testicular descent. Mutations in this gene may lead to cryptorchidism. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B4DZ72;G3XAG0;Q3KPI5;Q3KPI6;Q6YNB5;Q9UEA2;Q9UPH6", "ec_number_list": [], "go_molecular_function": "GO:0002020 protease binding;GO:0005102 signaling receptor binding;GO:0005158 insulin receptor binding;GO:0005179 hormone activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0007267 cell-cell signaling;GO:0007283 spermatogenesis;GO:0090303 positive regulation of wound healing;GO:0010634 positive regulation of epithelial cell migration", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "P51460-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16557-1", "uniprot_id": [ { "id": "PSG3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16557", "type": "external" } ], "mass": 47945.0, "length": 428, "protein_name": "Pregnancy-specific beta-1-glycoprotein 3", "gene_name": "PSG3", "organism": "Human", "refseq_name": "pregnancy-specific beta-1-glycoprotein 3 precursor", "refseq_ac": [ { "id": "NP_066296", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066296", "type": "external" } ], "gene_names_uniprotkb": "PSG3", "gene_names_refseq": "PSG3", "protein_names_uniprotkb": "Pregnancy-specific beta-1-glycoprotein 3; Carcinoembryonic antigen SG5; PS-beta-G-3; PSBG-3; Pregnancy-specific glycoprotein 3", "protein_names_refseq": "PS-beta-G-3; PSBG-3; carcinoembryonic antigen SG5; pregnancy-specific beta-1-glycoprotein 3 precursor; pregnancy-specific glycoprotein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:5671); (R-HSA-202733)", "pathway_count": 2, "publication_count": 66, "publication_id_list": "10606205;10764623;11207550;11237011;11256994;11564780;11779189;11812992;12070135;12208882;12469115;12782713;14529530;14615387;15000751;15528364;15681301;15721307;1591491;16258728;16297198;16585556;16691243;16737840;16783819;17064312;17099249;17116209;17167768;17172599;17322099;17379836;17442946;17452516;17505016;17525755;17563375;17580308;17600130;17615384;17625065;19279206;21193412;21659548;2302228;2341148;2350345;23945545;24043627;24764293;2538457;3265688;468991;7509040;7521878;8163559;8166770;8314844;8487756;9052782;9169774;9242610;9295288;9382878;9693095;9763524", "class_list": "", "function": "The human pregnancy-specific glycoproteins (PSGs) are a family of proteins that are synthesized in large amounts by placental trophoblasts and released into the maternal circulation during pregnancy. Molecular cloning and analysis of several PSG genes has indicated that the PSGs form a subgroup of the carcinoembryonic antigen (CEA) gene family, which belongs to the immunoglobulin superfamily of genes. Members of the CEA family consist of a single N domain, with structural similarity to the immunoglobulin variable domains, followed by a variable number of immunoglobulin constant-like A and/or B domains. Most PSGs have an arg-gly-asp (RGD) motif, which has been shown to function as an adhesion recognition signal for several integrins, in the N-terminal domain (summary by Teglund et al., 1994 [PubMed 7851896]). For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009]., [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": 36, "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": "Q08265;Q9BRW2;Q9UPL4;Q9UQ77", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0006952 defense response;GO:0007565 female pregnancy", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q16557-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q969U7-1", "uniprot_id": [ { "id": "PSMG2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q969U7", "type": "external" } ], "mass": 29396.0, "length": 264, "protein_name": "Proteasome assembly chaperone 2", "gene_name": "PSMG2", "organism": "Human", "refseq_name": "proteasome assembly chaperone 2 isoform 1", "refseq_ac": [ { "id": "NP_064617", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064617", "type": "external" } ], "gene_names_uniprotkb": "PSMG2; HCCA3; PAC2; TNFSF5IP1", "gene_names_refseq": "CLAST3; HCCA3; HsT1707; MDS003; PAC2; PRAAS4; PSMG2; TNFSF5IP1", "protein_names_uniprotkb": "Proteasome assembly chaperone 2; Hepatocellular carcinoma-susceptibility protein 3; PAC-2; Tumor necrosis factor superfamily member 5-induced protein 1", "protein_names_refseq": "CD40 ligand-activated specific transcript 3; HDCMC29P; HSPC260; PAC-2; hepatocellular carcinoma susceptibility protein; hepatocellular carcinoma-susceptibility protein 3; likely ortholog of mouse CD40 ligand-activated specific transcript 3 (Clast3); proteasome (prosome, macropain) assembly chaperone 2; proteasome assembling chaperone 2; proteasome assembly chaperone 2 isoform 1; tumor necrosis factor superfamily member 5-induced protein 1; x 003 protein", "tax_id": 9606, "disease": "proteosome-associated autoinflammatory syndrome 4 (Disease Ontology:DOID:0060915)", "pathway": " (hsa:56984); (R-HSA-9907900)", "pathway_count": 2, "publication_count": 79, "publication_id_list": "10973495;11237011;11854909;11920191;15831487;16251969;16990800;17189198;17540904;17707236;17948026;19490896;20112406;20471946;23186163;23481700;24714562;24715725;25418920;25576301;25645385;25892735;26109405;26154972;26811146;26929215;26992070;27600516;27846572;27920218;28063628;28218747;28228285;28263418;28442575;28467828;28598414;28832583;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30379171;30410026;30664889;30779550;31154438;31530632;31844290;31848261;32157095;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33691108;33717175;33936100;33968037;34019948;34211107;34357683;34932366;35051231;35580925;36215666;36284347", "class_list": "", "function": "A novel full-length cDNA was cloned and differentiated, which was highly expressed in liver cancer tissues. (HCCA3), [RefSeq, PubMed]; Chaperone protein which promotes assembly of the 20S proteasome as part of a heterodimer with PSMG1., [UniProtKB, UniProtKB]; Chaperone protein which promotes assembly of the 20S proteasome as part of a heterodimer with PSMG1. The PSMG1-PSMG2 heterodimer binds to the PSMA5 and PSMA7 proteasome subunits, promotes assembly of the proteasome alpha subunits into the heteroheptameric alpha ring and prevents alpha ring dimerization., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Two chaperones, designated proteasome assembling chaperone-1 (PAC1) and PAC2, form a heterodimer and are involved in the maturation of mammalian 20S proteasomes, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B0YJB3;Q6IAH4;Q9NRV1;V9GYH7", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0101031 protein folding chaperone complex", "go_biological_process": "GO:0043248 proteasome assembly;GO:0080129 proteasome core complex assembly;GO:0051131 chaperone-mediated protein complex assembly", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "Q969U7-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00764-1", "uniprot_id": [ { "id": "PDXK_HUMAN", "url": "https://www.uniprot.org/uniprot/O00764", "type": "external" } ], "mass": 35102.0, "length": 312, "protein_name": "Pyridoxal kinase", "gene_name": "PDXK", "organism": "Human", "refseq_name": "pyridoxal kinase isoform 1", "refseq_ac": [ { "id": "NP_003672", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003672", "type": "external" } ], "gene_names_uniprotkb": "PDXK; C21orf124; C21orf97; PKH; PNK; PRED79", "gene_names_refseq": "C21orf124; C21orf97; HEL-S-1a; HMSN6C; PDXK; PKH; PNK; PRED79", "protein_names_uniprotkb": "Pyridoxal kinase; 2.7.1.35; Pyridoxine kinase", "protein_names_refseq": "epididymis secretory sperm binding protein Li 1a; pyridoxal (pyridoxine, vitamin B6) kinase; pyridoxal kinase isoform 1; pyridoxamine kinase; pyridoxine kinase; vitamin B6 kinase", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330); neuropathy, hereditary motor and sensory, type VIc, with optic atrophy (MONDO:MONDO:0032792)", "pathway": " (hsa:8566); (R-HSA-6798695); (R-HSA-964975)", "pathway_count": 3, "publication_count": 77, "publication_id_list": "10987144;11237011;15154080;15182361;15249053;16408927;16600635;17766369;18691976;19351586;19369195;22279051;22647618;22879864;23186163;23650620;24715725;25576301;25645385;25880248;26992070;27600516;27846572;27893789;28228285;28467828;28716709;28832583;28904123;29242379;29314611;29331515;29393594;29557506;29632046;29632711;29786170;30410026;30484775;31187503;31217245;31578392;31844290;31848261;31998317;32157095;32350084;32357974;32488085;32502341;32696745;32938616;32983136;33123756;33298915;33592498;33691108;33912179;33936100;33968037;34019948;34087483;34171305;34357683;34509645;34725712;35051231;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;8692836;9099727", "class_list": "", "function": "Catalyzes the phosphorylation of the dietary vitamin B6 vitamers pyridoxal (PL), pyridoxine (PN) and pyridoxamine (PM) to form pyridoxal 5'-phosphate (PLP), pyridoxine 5'-phosphate (PNP) and pyridoxamine 5'-phosphate (PMP), respectively (Probable) (PubMed:10987144, PubMed:17766369, PubMed:19351586, PubMed:31187503, PubMed:9099727). PLP is the active form of vitamin B6, and acts as a cofactor for over 140 different enzymatic reactions., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; The affected pyridoxine metabolism is discussed as an inborn genetic trait in epilepsy in general, rather than a specific sign of pyridoxine-dependent epilepsy solely., [RefSeq, PubMed]; The expression of four pyridoxal kinase (PDXK) human variants in Drosophila impacts on genome integrity. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene phosphorylates vitamin B6, a step required for the conversion of vitamin B6 to pyridoxal-5-phosphate, an important cofactor in intermediary metabolism. The encoded protein is cytoplasmic and probably acts as a homodimer. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]; [Pyridoxal kinase (PDXK) promotes the proliferation of serous ovarian cancer cells and is associated with poor prognosis]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q7Z2Y0;Q9BS02", "ec_number_list": [ { "id": "1.8.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.2", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.7.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.35", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "2.4.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.1", "type": "external" }, { "id": "3.4.21.46", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.46", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "1.11.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.6", "type": "external" }, { "id": "4.1.2.13", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.13", "type": "external" }, { "id": "3.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.1", "type": "external" }, { "id": "2.4.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.1", "type": "external" }, { "id": "5.3.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.1.9", "type": "external" }, { "id": "5.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.1.3.-", "type": "external" }, { "id": "3.4.23.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.5", "type": "external" }, { "id": "2.4.2.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.7", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.4.21.37", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.37", "type": "external" }, { "id": "2.3.1.16", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.16", "type": "external" }, { "id": "2.3.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.9", "type": "external" }, { "id": "2.3.1.155", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.155", "type": "external" }, { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "1.13.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.13.11.-", "type": "external" }, { "id": "1.13.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:1.13.11.34", "type": "external" }, { "id": "1.11.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.7", "type": "external" }, { "id": "1.1.1.205", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.205", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "4.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.24", "type": "external" }, { "id": "5.3.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.2.1", "type": "external" }, { "id": "5.3.3.12", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.12", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "2.7.1.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.11", "type": "external" }, { "id": "5.4.2.11", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.11", "type": "external" }, { "id": "5.4.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.4", "type": "external" }, { "id": "1.4.3.22", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.22", "type": "external" }, { "id": "1.4.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "3.4.24.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.34", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.5.4.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.5", "type": "external" }, { "id": "2.4.1.186", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.186", "type": "external" }, { "id": "3.1.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.21.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.7.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.1", "type": "external" }, { "id": "2.7.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.-", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.17", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "3.1.1.47", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.47", "type": "external" }, { "id": "3.5.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.6", "type": "external" }, { "id": "1.11.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.24", "type": "external" }, { "id": "3.2.1.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.14", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.3.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.5", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.4.19.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.9", "type": "external" }, { "id": "5.4.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.2", "type": "external" }, { "id": "5.4.2.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.7", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "type": "external" }, { "id": "3.2.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.18", "type": "external" }, { "id": "3.5.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.3", "type": "external" }, { "id": "3.4.18.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.18.1", "type": "external" }, { "id": "3.2.1.166", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.166", "type": "external" }, { "id": "4.1.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.4", "type": "external" } ], "go_molecular_function": "GO:0031403 lithium ion binding;GO:0000287 magnesium ion binding;GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0030170 pyridoxal phosphate binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0034774 secretory granule lumen", "go_biological_process": "GO:0009443 pyridoxal 5'-phosphate salvage", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "O00764-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UX98-1", "uniprot_id": [ { "id": "ZDH24_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UX98", "type": "external" } ], "mass": 30176.0, "length": 284, "protein_name": "Probable palmitoyltransferase ZDHHC24", "gene_name": "ZDHHC24", "organism": "Human", "refseq_name": "probable palmitoyltransferase ZDHHC24 isoform 1", "refseq_ac": [ { "id": "NP_997223", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997223", "type": "external" } ], "gene_names_uniprotkb": "ZDHHC24; PRO6027", "gene_names_refseq": "ZDHHC24", "protein_names_uniprotkb": "Probable palmitoyltransferase ZDHHC24; 2.3.1.225; Zinc finger DHHC domain-containing protein 24", "protein_names_refseq": "DHHC-24; probable palmitoyltransferase ZDHHC24 isoform 1; probable palmitoyltransferase ZDHHC24; zinc finger DHHC domain-containing protein 24; zinc finger DHHC-type containing 24; zinc finger, DHHC domain containing 24", "tax_id": 9606, "disease": "", "pathway": " (hsa:254359)", "pathway_count": 1, "publication_count": 44, "publication_id_list": "11237011;12975309;23481700;25418920;25576301;25645385;26154972;26992070;28218747;28228285;28832583;28904123;29242379;29437277;29557506;30192525;30315122;30484775;31154438;31217245;31844290;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32938616;33298915;33537174;33592498;33912179;33968037;34087483;34171305;34405274;34509645;35051231;35561310;35580925;36010968;36215666;36241641", "class_list": "", "function": "Probable palmitoyltransferase that could catalyze the addition of palmitate onto various protein substrates., [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": "Q6PEW7;Q9BSJ0", "ec_number_list": [ { "id": "2.3.1.225", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.225", "type": "external" }, { "id": "6.3.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.1.2", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" } ], "go_molecular_function": "GO:0019706 protein-cysteine S-palmitoyltransferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0016020 membrane", "go_biological_process": "GO:0006612 protein targeting to membrane", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q6UX98-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86WH2-1", "uniprot_id": [ { "id": "RASF3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86WH2", "type": "external" } ], "mass": 27562.0, "length": 238, "protein_name": "Ras association domain-containing protein 3", "gene_name": "RASSF3", "organism": "Human", "refseq_name": "ras association domain-containing protein 3", "refseq_ac": [ { "id": "NP_835463", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_835463", "type": "external" } ], "gene_names_uniprotkb": "RASSF3", "gene_names_refseq": "RASSF3", "protein_names_uniprotkb": "Ras association domain-containing protein 3", "protein_names_refseq": "Ras association (RalGDS/AF-6) domain family 3; Ras association (RalGDS/AF-6) domain family member 3; ras association domain-containing protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:283349)", "pathway_count": 1, "publication_count": 47, "publication_id_list": "11237011;11965544;15569673;19148488;20237496;24714562;24715725;25880248;25892735;26728094;26992070;27600516;27846572;27862975;28832583;28834231;28904123;29493099;29508533;29557506;29632711;29769354;29786170;30315122;30379171;31844290;32157095;32357974;32502341;32897882;32938616;32983136;33141586;33592498;33691108;33717175;33936100;33968037;33981976;34087483;34171305;34932366;35051231;35580925;36010968;36241641;36284347", "class_list": "", "function": "Mammary tumor incidence in bi-transgenic mice is delayed, suggesting that transgenic Rassf3 may influence mammary tumor incidence in transgenic mice, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The RAS oncogene (MIM 190020) is mutated in nearly one-third of all human cancers. Members of the RAS superfamily are plasma membrane GTP-binding proteins that modulate intracellular signal transduction pathways. A subfamily of RAS effectors, including RASSF3, share a RAS association (RA) domain.[supplied by OMIM, Jul 2003]., [RefSeq]; The presence of a Ras association domain common to NORE1,RASSF1, and RASSF3 suggests their possible involvement inRas-like signaling pathways., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q86WH1", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005874 microtubule", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q86WH2-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y251-1", "uniprot_id": [ { "id": "HPSE_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y251", "type": "external" } ], "mass": 61149.0, "length": 543, "protein_name": "Heparanase", "gene_name": "HPSE", "organism": "Human", "refseq_name": "heparanase isoform 1 preproprotein", "refseq_ac": [ { "id": "NP_001092010", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092010", "type": "external" } ], "gene_names_uniprotkb": "HPSE; HEP; HPA1; HPA; HPR1; HPSE1; HSE1", "gene_names_refseq": "HPA1; HPA; HPR1; HPSE1; HPSE; HSE1", "protein_names_uniprotkb": "Heparanase; 3.2.1.166; Endo-glucoronidase; Heparanase-1; Hpa1", "protein_names_refseq": "endo-glucoronidase; heparanase isoform 1 preproprotein; heparanase-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10855); (R-HSA-2024096); (R-HSA-6798695)", "pathway_count": 3, "publication_count": 93, "publication_id_list": "10.1101/2023.09.13.557529;10395325;10395326;10405343;10446189;10466419;10764835;11027606;11123890;11237011;11547900;11973358;12213822;12441129;12713442;12773484;12927802;14573609;15044433;15126626;15292202;15334672;15647514;15659389;15760902;15848168;16151907;16263699;16452201;16912206;16960811;17033958;17208203;18557927;18798279;19159218;19244131;1946389;20068231;20097882;20181948;20309870;20560209;20560210;20561914;20576607;20634491;20650889;21131364;2122463;23650620;24190977;25562322;26154972;26575439;26733221;27862975;28581485;28832583;28904123;29242379;29493099;29557506;29632711;30192525;30315122;30429286;31848261;32157095;32350084;32502341;32983136;33936100;33968037;34171305;35051231;35154160;35561310;35580925;36215666;36284347;36564084;36980254;37074911;37481997;37938771;38378682;38771953;39534244;7493035;8692836;8776591;9285796", "class_list": "glycogene;glycosylhydrolase", "function": "Effect of HPSE and HPSE2 SNPs on the Risk of Developing Primary Paraskeletal Multiple Myeloma. Publication Status: Online-Only, [RefSeq, PubMed]; Endoglycosidase that cleaves heparan sulfate proteoglycans (HSPGs) into heparan sulfate side chains and core proteoglycans. Participates in extracellular matrix (ECM) degradation and remodeling. Selectively cleaves the linkage between a glucuronic acid unit and an N-sulfo glucosamine unit carrying either a 3-O-sulfo or a 6-O-sulfo group. Can also cleave the linkage between a glucuronic acid unit and an N-sulfo glucosamine unit carrying a 2-O-sulfo group, but not linkages between a glucuronic acid unit and a 2-O-sulfated iduronic acid moiety. It is essentially inactive at neutral pH but becomes active under acidic conditions such as during tumor invasion and in inflammatory processes. Facilitates cell migration associated with metastasis, wound healing and inflammation. Enhances shedding of syndecans, and increases endothelial invasion and angiogenesis in myelomas. Acts as a procoagulant by increasing the generation of activation factor X in the presence of tissue factor and activation factor VII. Increases cell adhesion to the extracellular matrix (ECM), independent of its enzymatic activity. Induces AKT1/PKB phosphorylation via lipid rafts increasing cell mobility and invasion. Heparin increases this AKT1/PKB activation. Regulates osteogenesis. Enhances angiogenesis through up-regulation of SRC-mediated activation of VEGF. Implicated in hair follicle inner root sheath differentiation and hair homeostasis., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Ethnic differences in urinary monocyte chemoattractant protein-1 and heparanase-1 levels in individuals with type 2 diabetes: the HELIUS study., [RefSeq, PubMed]; Heparan sulfate proteoglycans are major components of the basement membrane and extracellular matrix. The protein encoded by this gene is an enzyme that cleaves heparan sulfate proteoglycans to permit cell movement through remodeling of the extracellular matrix. In addition, this cleavage can release bioactive molecules from the extracellular matrix. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]., [RefSeq]; Heparanase Stimulation of Physiologic Cardiac Hypertrophy Is Suppressed After Chronic Diabetes, Resulting in Cardiac Remodeling and Dysfunction., [RefSeq, PubMed]; Heparanase promotes malignant phenotypes of human oral squamous carcinoma cells by regulating the epithelial-mesenchymal transition-related molecules and infiltrated levels of natural killer cells., [RefSeq, PubMed]; Regulatory T cells use heparanase to access IL-2 bound to extracellular matrix in inflamed tissue. Publication Status: Online-Only, [RefSeq, PubMed]; Splice 5 escaped proteolytic cleavage, was devoid of HS degradation activity and exhibited diffused rather than granular cellular 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": 7, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 7, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 7, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 33, "reported_glycation": 0, "reported_snv": 687, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 8, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "A9JIG7;C7F7I3;C7F7I4;E9PCA9;E9PGR1;Q53GE5;Q9UL39", "ec_number_list": [ { "id": "1.8.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.2", "type": "external" }, { "id": "2.7.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.35", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "3.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.1", "type": "external" }, { "id": "3.4.23.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.5", "type": "external" }, { "id": "3.4.22.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.15", "type": "external" }, { "id": "3.4.21.37", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.37", "type": "external" }, { "id": "2.3.1.16", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.16", "type": "external" }, { "id": "2.3.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.9", "type": "external" }, { "id": "2.3.1.155", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.155", "type": "external" }, { "id": "1.4.3.22", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.22", "type": "external" }, { "id": "1.4.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.-", "type": "external" }, { "id": "3.4.24.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.34", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "3.1.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.21.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.17", "type": "external" }, { "id": "3.2.1.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.14", "type": "external" }, { "id": "2.3.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.5", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.4.19.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.9", "type": "external" }, { "id": "3.2.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.18", "type": "external" }, { "id": "3.5.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.3", "type": "external" }, { "id": "3.4.18.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.18.1", "type": "external" }, { "id": "3.2.1.166", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.166", "type": "external" } ], "go_molecular_function": "GO:0045545 syndecan binding;GO:0004566 beta-glucuronidase activity;GO:0030305 heparanase activity;GO:0016798 hydrolase activity, acting on glycosyl bonds", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:0061028 establishment of endothelial barrier;GO:0051897 positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0010575 positive regulation of vascular endothelial growth factor production;GO:0007160 cell-matrix adhesion;GO:0033690 positive regulation of osteoblast proliferation", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "Q9Y251-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.100.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NF86-1", "uniprot_id": [ { "id": "PRS33_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NF86", "type": "external" } ], "mass": 29787.0, "length": 280, "protein_name": "Serine protease 33", "gene_name": "PRSS33", "organism": "Human", "refseq_name": "serine protease 33 precursor", "refseq_ac": [ { "id": "NP_690851", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_690851", "type": "external" } ], "gene_names_uniprotkb": "PRSS33", "gene_names_refseq": "EOS; PRSS33", "protein_names_uniprotkb": "Serine protease 33; 3.4.21.-; Serine protease EOS", "protein_names_refseq": "protease, serine 33; serine protease 33 precursor; serine protease EOS", "tax_id": 9606, "disease": "", "pathway": " (hsa:260429)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;12795636;28216055", "class_list": "", "function": "Activated eosinophils may induce fibroblast extracellular matrix protein synthesis through cell-surface expression of PRSS33, which would at least partly explain eosinophils' role(s) in airway remodeling., [RefSeq, PubMed]; Highly expressed in spleen and moderately expressed in intestine, colon, lung and brain, [RefSeq, PubMed]; Serine protease that has amidolytic activity, cleaving its substrates before Arg residues., [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": "A6NNQ3;Q8N171", "ec_number_list": [], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm", "go_biological_process": "GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q8NF86-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q01995-1", "uniprot_id": [ { "id": "TAGL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q01995", "type": "external" } ], "mass": 22611.0, "length": 201, "protein_name": "Transgelin", "gene_name": "TAGLN", "organism": "Human", "refseq_name": "transgelin", "refseq_ac": [ { "id": "NP_001001522", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001522", "type": "external" } ], "gene_names_uniprotkb": "TAGLN; SM22; WS3-10", "gene_names_refseq": "SM22-alpha; SM22; SMCC; TAGLN1; TAGLN; TGLN; WS3-10", "protein_names_uniprotkb": "Transgelin; 22 kDa actin-binding protein; Protein WS3-10; SM22-alpha; Smooth muscle protein 22-alpha", "protein_names_refseq": "22 kDa actin-binding protein; epididymis secretory sperm binding protein; smooth muscle protein 22-alpha; transgelin", "tax_id": 9606, "disease": "", "pathway": " (hsa:6876)", "pathway_count": 1, "publication_count": 51, "publication_id_list": "11053353;11237011;1520290;17074750;18083107;18212344;18378184;1872880;20068231;20166139;21406692;22798525;23174934;24129315;24275569;25576301;25937534;26992070;27846572;27862975;28832583;29242379;29393594;29557506;29632711;29786170;30429286;31373491;31844290;32157095;32938616;32983136;33091337;33592498;33968037;34019948;34087483;35051231;35251023;35580925;36010968;36215666;36284347;36580660;37290124;37806182;37847687;37938771;38665916;9276683;9615232", "class_list": "", "function": "Actin cross-linking/gelling protein (By similarity). Involved in calcium interactions and contractile properties of the cell that may contribute to replicative senescence., [UniProtKB]; Acts as a tumour suppressor; expression is lost in prostate, breast and colon cancers Review article, [RefSeq, PubMed]; Hypoxia-Inducible Factor-1alpha in SM22alpha-Expressing Cells Modulates Alveolarization., [RefSeq, PubMed]; LZTS3/TAGLN Suppresses Cancer Progression in Human Colorectal Adenocarcinoma Through Regulating Cell Proliferation, Migration, and Actin Cytoskeleton., [RefSeq, PubMed]; Loss of prolyl hydroxylase 1 and 2 in SM22alpha-expressing cells prevents Hypoxia-Induced pulmonary hypertension., [RefSeq, PubMed]; This gene encodes a shape change and transformation sensitive actin-binding protein which belongs to the calponin family. It is ubiquitously expressed in vascular and visceral smooth muscle, and is an early marker of smooth muscle differentiation. The encoded protein is thought to be involved in calcium-independent smooth muscle contraction. It acts as a tumor suppressor, and the loss of its expression is an early event in cell transformation and the development of some tumors, coinciding with cellular plasticity. The encoded protein has a domain architecture consisting of an N-terminal calponin homology (CH) domain and a C-terminal calponin-like (CLIK) domain. Mice with a knockout of the orthologous gene are viable and fertile but their vascular smooth muscle cells exhibit alterations in the distribution of the actin filament and changes in cytoskeletal organization. [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": 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": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "diagnostic", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "O15542", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0030855 epithelial cell differentiation;GO:0007517 muscle organ development", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q01995-1", "record_type": "protein", "filter_code": "1000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15238-1", "uniprot_id": [ { "id": "PSG5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15238", "type": "external" } ], "mass": 37713.0, "length": 335, "protein_name": "Pregnancy-specific beta-1-glycoprotein 5", "gene_name": "PSG5", "organism": "Human", "refseq_name": "pregnancy-specific beta-1-glycoprotein 5 precursor", "refseq_ac": [ { "id": "NP_001123486", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123486", "type": "external" } ], "gene_names_uniprotkb": "PSG5", "gene_names_refseq": "FL-NCA-3; PSG5; PSG", "protein_names_uniprotkb": "Pregnancy-specific beta-1-glycoprotein 5; FL-NCA-3; Fetal liver non-specific cross-reactive antigen 3; PS-beta-G-5; PSBG-5; Pregnancy-specific glycoprotein 5", "protein_names_refseq": "PS-beta-G-5; PSBG-5; Pregnancy-specific beta-1-glycoprotein-5; fetal liver non-specific cross-reactive antigen 3; pregnancy-specific beta 1 glycoprotein; pregnancy-specific beta-1-glycoprotein 5 precursor; pregnancy-specific glycoprotein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:5673); (R-HSA-202733)", "pathway_count": 2, "publication_count": 71, "publication_id_list": "10606205;10764623;11207550;11237011;11256994;11564780;11779189;11812992;12070135;12208882;12469115;12782713;14529530;14615387;15000751;15528364;15681301;15721307;1591491;16258728;16297198;16585556;16691243;16737840;16783819;17064312;17099249;17116209;17167768;17172599;17322099;17379836;17442946;17452516;17505016;17525755;17563375;17580308;17600130;17615384;17625065;17978129;1922019;19279206;21193412;21659548;23418492;23469002;23945545;24043627;24764293;2538457;2735907;2789512;28411811;32157095;32938616;35051231;468991;7509040;7521878;8163559;8166770;8314844;9052782;9169774;9242610;9295288;9382878;9693095;9763524", "class_list": "", "function": "Esults are consistent with a regulatory role of lysine acetylation on PSG expression through a relaxed chromatin state and an increase in the transcriptional activity of Sp1 and KLF6 following an augmented Sp1 acetylation and KLF6 nuclear localization., [RefSeq, PubMed]; Show that human PSG1 binds alphaIIbbeta3 and inhibits the platelet - fibrinogen interaction. Unexpectedly, however, the KGD is not critical as multiple PSG1 domains independently bind and inhibit alphaIIbbeta3 function, [RefSeq, PubMed]; The human pregnancy-specific glycoproteins (PSGs) are a group of molecules that are mainly produced by the placental syncytiotrophoblasts during pregnancy. PSGs comprise a subgroup of the carcinoembryonic antigen (CEA) family, which belongs to the immunoglobulin superfamily. For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009]., [RefSeq]; The mRNA expression of PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN is up-regulated in cells circulating within blood from women with preeclampsia, and is positively correlated with cliical severity, [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": 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": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q15239;Q96QJ1;Q9UQ75", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane", "go_biological_process": "GO:0007565 female pregnancy;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q15238-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P57087-1", "uniprot_id": [ { "id": "JAM2_HUMAN", "url": "https://www.uniprot.org/uniprot/P57087", "type": "external" } ], "mass": 33207.0, "length": 298, "protein_name": "Junctional adhesion molecule B", "gene_name": "JAM2", "organism": "Human", "refseq_name": "junctional adhesion molecule B isoform 2 precursor", "refseq_ac": [ { "id": "NP_001257336", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257336", "type": "external" } ], "gene_names_uniprotkb": "JAM2; C21orf43; PRO245; VEJAM", "gene_names_refseq": "C21orf43; CD322; IBGC8; JAM-B; JAM2; JAMB; PRO245; VE-JAM; VEJAM", "protein_names_uniprotkb": "Junctional adhesion molecule B; JAM-2; JAM-B; Junctional adhesion molecule 2; VE-JAM; Vascular endothelial junction-associated molecule", "protein_names_refseq": "JAM-2; JAM-IT/VE-JAM; junctional adhesion molecule B isoform 2 precursor; junctional adhesion molecule B; vascular endothelial junction-associated molecule", "tax_id": 9606, "disease": "basal ganglia calcification (Disease Ontology:DOID:0060230); basal ganglia calcification, idiopathic, 8, autosomal recessive (MONDO:MONDO:0032938)", "pathway": " (hsa:58494); (R-HSA-202733); (R-HSA-216083)", "pathway_count": 3, "publication_count": 161, "publication_id_list": "10.1101/2023.09.13.557529;10209034;10366422;10438935;10543983;10593924;10605720;10606205;10640428;10673366;10713152;10764623;10779521;10811134;10945976;10982388;11158588;11207550;11237011;11256994;11518510;11564780;11572855;11590146;11713259;11779189;11812992;11823489;11980922;12036298;12070135;12208882;12239159;12469115;12496264;12585966;12682293;12782713;12807887;12810109;12953056;12975309;14529530;14615387;15000751;15240572;15330449;15340161;15345499;15383545;15528364;15681301;15713743;15721307;1588291;15899827;1591491;16002701;16051604;16239428;16258728;16297198;16335952;16585556;16691243;16731529;16737840;16754661;16783819;16933105;17064312;17099249;17116209;17167768;17172599;17322099;17339034;17379836;17442946;17452516;17505016;17525755;17563375;17580308;17600130;17615384;17625065;17968485;18710925;18775695;19279206;19502598;20033473;2010551;20705068;21193412;21659548;22539938;22884367;23374253;23481700;23945545;24043627;24190977;24357068;24764293;2538457;25418920;26811146;26929215;27920218;28228285;28649982;28871256;29242379;29393594;29632046;30315122;30429286;31844290;31851307;32142645;32265295;32350084;33592498;33912179;34357683;34433824;34923424;37074911;38404047;38441788;468991;7505120;7509040;7521878;7525578;7541634;7542249;7559467;7685013;8118028;8163559;8166770;8314844;8344274;8560266;8798654;8838667;8910476;9052782;9169774;9242610;9251239;9295288;9382878;9443892;9565552;9693095;9763524;9858236", "class_list": "", "function": "Cloning and discovery as adhesion receptor for T cells, [RefSeq, PubMed]; JAM2 is a prognostic biomarker and inhibits proliferation, metastasis and epithelial-mesenchymal transition in lung adenocarcinoma., [RefSeq, PubMed]; JAM2 predicts a good prognosis and inhibits invasion and migration by suppressing EMT pathway in breast cancer., [RefSeq, PubMed]; JAM2 variants can be more common in primary familial brain calcification (PFBC) cases than those appear; may be due to a founder mutation., [RefSeq, PubMed]; Junctional adhesion protein that mediates heterotypic cell-cell interactions with its cognate receptor JAM3 to regulate different cellular processes (PubMed:11590146, PubMed:11823489, PubMed:24357068). Plays a role in homing and mobilization of hematopoietic stem and progenitor cells within the bone marrow (PubMed:24357068). At the surface of bone marrow stromal cells, it contributes to the retention of the hematopoietic stem and progenitor cells expressing JAM3 (PubMed:11590146, PubMed:24357068). Plays a central role in leukocytes extravasation by facilitating not only transmigration but also tethering and rolling of leukocytes along the endothelium (PubMed:12239159). Tethering and rolling of leukocytes are dependent on the binding by JAM2 of the integrin alpha-4/beta-1 (PubMed:12070135). Plays a role in spermatogenesis where JAM2 and JAM3, which are respectively expressed by Sertoli and germ cells, mediate an interaction between both cell types and play an essential role in the anchorage of germ cells onto Sertoli cells and the assembly of cell polarity complexes during spermatid differentiation (By similarity). Also functions as an inhibitory somatodendritic cue that prevents the myelination of non-axonal parts of neurons (By similarity). During myogenesis, it is involved in myocyte fusion (By similarity). May also play a role in angiogenesis (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Role as an adhesive ligand for interacting with a variety of immune cell types, [RefSeq, PubMed]; This gene belongs to the immunoglobulin superfamily, and the junctional adhesion molecule (JAM) family. The protein encoded by this gene is a type I membrane protein that is localized at the tight junctions of both epithelial and endothelial cells. It acts as an adhesive ligand for interacting with a variety of immune cell types, and may play a role in lymphocyte homing to secondary lymphoid organs. Alternatively spliced transcript variants have been found 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": 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": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 9507, "biomarker_type": "", "glycan_count": 4, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2R6T9;B4DGT9;Q6UXG6;Q6YNC1", "ec_number_list": [], "go_molecular_function": "GO:0005178 integrin binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005923 bicellular tight junction;GO:0009986 cell surface;GO:0044291 cell-cell contact zone;GO:0036477 somatodendritic compartment", "go_biological_process": "GO:0097241 hematopoietic stem cell migration to bone marrow;GO:0007286 spermatid development;GO:0098609 cell-cell adhesion;GO:0007159 leukocyte cell-cell adhesion;GO:0050901 leukocyte tethering or rolling", "synthesized_glycan_count": 0, "hit_score": 16.8, "record_id": "P57087-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JRX3-1", "uniprot_id": [ { "id": "PREP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JRX3", "type": "external" } ], "mass": 117413.0, "length": 1037, "protein_name": "Presequence protease, mitochondrial", "gene_name": "PITRM1", "organism": "Human", "refseq_name": "presequence protease, mitochondrial isoform 1 precursor", "refseq_ac": [ { "id": "NP_001229236", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229236", "type": "external" } ], "gene_names_uniprotkb": "PITRM1; KIAA1104; MP1; PREP", "gene_names_refseq": "MP1; PITRM1; PreP; SCAR30", "protein_names_uniprotkb": "Presequence protease, mitochondrial; 3.4.24.-; Metalloprotease 1; Pitrilysin metalloproteinase 1; hMP1; hPreP", "protein_names_refseq": "PreP peptidasome; metalloprotease 1 (pitrilysin family); pitrilysin metalloproteinase 1; presequence protease, mitochondrial isoform 1 precursor; presequence protease, mitochondrial", "tax_id": 9606, "disease": "hereditary ataxia (Disease Ontology:DOID:0050951); autosomal recessive spinocerebellar ataxia 30 (Disease Ontology:DOID:0070411); Alzheimer's disease (Disease Ontology:DOID:10652); primary cerebellar degeneration (Disease Ontology:DOID:9277)", "pathway": " (hsa:10531); (R-HSA-1268020)", "pathway_count": 2, "publication_count": 63, "publication_id_list": "10360838;11237011;14726512;15254020;15644312;15683237;16185709;16849325;17510655;18174896;18678864;19196155;19409522;19453276;19767391;19962426;20593814;21621546;21750375;23041349;23597483;23811401;24931469;25315652;26697887;26992070;27846572;28510447;28904123;29383861;29493099;29764912;30410026;30429286;31217245;31844290;32157095;32350084;32357974;32387766;32502341;32632204;32857715;32897882;32938616;32983136;33298915;33465208;33537174;33592498;33912179;33951271;33968037;34087483;34171305;34229054;34357683;34405274;35051231;35251023;35751131;38253038;38665916", "class_list": "", "function": "Expression of IDE and PITRM1 genes in ERN1 knockdown U87 glioma cells: effect of hypoxia and glucose deprivation., [RefSeq, PubMed]; Gain of PITRM1 peptidase in cortical neurons affords protection of mitochondrial and synaptic function in an advanced age mouse model of Alzheimer's disease., [RefSeq, PubMed]; Loss of function of the mitochondrial peptidase PITRM1 induces proteotoxic stress and Alzheimer's disease-like pathology in human cerebral organoids., [RefSeq, PubMed]; Metalloendopeptidase of the mitochondrial matrix that functions in peptide cleavage and degradation rather than in protein processing (PubMed:10360838, PubMed:16849325, PubMed:19196155, PubMed:24931469). Has an ATP-independent activity (PubMed:16849325). Specifically cleaves peptides in the range of 5 to 65 residues (PubMed:19196155). Shows a preference for cleavage after small polar residues and before basic residues, but without any positional preference (PubMed:10360838, PubMed:19196155, PubMed:24931469). Degrades the transit peptides of mitochondrial proteins after their cleavage (PubMed:19196155). Also degrades other unstructured peptides (PubMed:19196155). It is also able to degrade amyloid-beta protein 40, one of the peptides produced by APP processing, when it accumulates in mitochondrion (PubMed:16849325, PubMed:24931469, PubMed:26697887). It is a highly efficient protease, at least toward amyloid-beta protein 40 (PubMed:24931469, PubMed:29383861, PubMed:29764912). Cleaves that peptide at a specific position and is probably not processive, releasing digested peptides intermediates that can be further cleaved subsequently (PubMed:24931469). It is also able to degrade amyloid-beta protein 42 (PubMed:29764912)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Our data suggest that genetic variation in the hPreP gene PITRM1 may potentially contribute to mitochondrial dysfunctions GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; PITRM1 interaction studies with amyloidogenic nonapeptide mutants of familial Alzheimer's disease., [RefSeq, PubMed]; The protein encoded by this gene is an ATP-dependent metalloprotease that degrades post-cleavage mitochondrial transit peptides. The encoded protein binds zinc and can also degrade amyloid beta A4 protein, suggesting a possible role in Alzheimer's disease. [provided by RefSeq, Dec 2016]., [RefSeq]; The substrate specificity of the mitochondrial metallopeptidase proteinase 1 (MP1) was investigated and its mitochondrial targeting signal identified., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 23, "reported_glycation": 0, "reported_snv": 31, "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": "B3KMJ6;B4E0J8;C9JSL2;E7ES23;O95204;Q2M2G6;Q4VBR1;Q5JRW7;Q7L5Z7;Q9BSI6;Q9BVJ5;Q9UPP8", "ec_number_list": [ { "id": "2.1.3.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.3.3", "type": "external" }, { "id": "7.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.2.2", "type": "external" }, { "id": "5.6.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.7", "type": "external" }, { "id": "1.16.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.1", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "1.1.98.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.98.-", "type": "external" }, { "id": "2.5.1.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.39", "type": "external" } ], "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0008047 enzyme activator activity;GO:0008237 metallopeptidase activity;GO:0008270 zinc ion binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006508 proteolysis;GO:0006626 protein targeting to mitochondrion;GO:0051603 proteolysis involved in protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q5JRX3-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UPZ9-1", "uniprot_id": [ { "id": "CILK1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UPZ9", "type": "external" } ], "mass": 71427.0, "length": 632, "protein_name": "Serine/threonine-protein kinase ICK", "gene_name": "CILK1", "organism": "Human", "refseq_name": "serine/threonine-protein kinase ICK isoform 1", "refseq_ac": [ { "id": "NP_055735", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055735", "type": "external" } ], "gene_names_uniprotkb": "CILK1; ICK; KIAA0936", "gene_names_refseq": "CED6; CILK1; ECO; EJM10; ICK; LCK2; MRK; hICK", "protein_names_uniprotkb": "Serine/threonine-protein kinase ICK; 2.7.11.1; Ciliogenesis associated kinase 1; Intestinal cell kinase; LCK2; Laryngeal cancer kinase 2; MAK-related kinase; MRK; hICK", "protein_names_refseq": "MAK-related kinase; iciliogenesis associated kinase 1; intestinal cell (MAK-like) kinase; intestinal cell kinase; laryngeal cancer kinase 2; serine/threonine protein kinase; serine/threonine-protein kinase ICK isoform 1; serine/threonine-protein kinase ICK", "tax_id": 9606, "disease": "endocrine-cerebro-osteodysplasia syndrome (Disease Ontology:DOID:0060641); juvenile myoclonic epilepsy 10 (Disease Ontology:DOID:0111325); cranioectodermal dysplasia 6 (MONDO:MONDO:0979883)", "pathway": " (hsa:22858)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "10699974;11237011;12103360;15988018;17344846;18083107;18691976;19185282;20068231;24714562;24797473;24853502;25645385;27600516;28834231;28904123;29539279;29557506;29789417;30429286;30782830;31154438;31530632;31844290;31848261;32157095;32502341;32732286;32983136;33717175;33968037;35609210;36010968;37665596;38725848;40615527", "class_list": "", "function": "Anterograde trafficking of ciliary MAP kinase-like ICK/CILK1 by the intraflagellar transport machinery is required for intraciliary retrograde protein trafficking., [RefSeq, PubMed]; BROMI/TBC1D32 together with CCRK/CDK20 and FAM149B1/JBTS36 contributes to intraflagellar transport turnaround involving ICK/CILK1., [RefSeq, PubMed]; Ciliogenesis-associated Kinase 1 Promotes Breast Cancer Cell Proliferation and Chemoresistance via Phosphorylating ERK1. Publication Status: Online-Only, [RefSeq, PubMed]; Eukaryotic protein kinases are enzymes that belong to a very extensive family of proteins which share a conserved catalytic core common with both serine/threonine and tyrosine protein kinases. This gene encodes an intestinal serine/threonine kinase harboring a dual phosphorylation site found in mitogen-activating protein (MAP) kinases. The protein localizes to the intestinal crypt region and is thought to be important in intestinal epithelial cell proliferation and differentiation. Alternative splicing has been observed at this locus and two variants, encoding the same isoform, have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]; ICK is the prototype for a new group of MAPK-like kinases requiring dual phosphorylation at TDY motifs., [RefSeq, PubMed]; Required for ciliogenesis (PubMed:24797473). Phosphorylates KIF3A (By similarity). Involved in the control of ciliary length (PubMed:24853502). Regulates the ciliary localization of SHH pathway components as well as the localization of IFT components at ciliary tips (By similarity). May play a key role in the development of multiple organ systems and particularly in cardiac development (By similarity). Regulates intraflagellar transport (IFT) speed and negatively regulates cilium length in a cAMP and mTORC1 signaling-dependent manner and this regulation requires its kinase activity (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; The Scaffold Protein KATNIP Enhances CILK1 Control of Primary Cilia., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 6, "reported_glycation": 0, "reported_snv": 4, "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": "A7MD41;O75985;Q5THL2;Q8IYH8;Q9BX17;Q9NYX3", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;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:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005929 cilium;GO:0036064 ciliary basal body", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0007165 signal transduction;GO:0035556 intracellular signal transduction;GO:0060271 cilium assembly;GO:0042073 intraciliary transport", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q9UPZ9-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6M1-2", "uniprot_id": [ { "id": "IF2B2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6M1", "type": "external" } ], "mass": 66121.0, "length": 599, "protein_name": "Insulin-like growth factor 2 mRNA-binding protein 2", "gene_name": "IGF2BP2", "organism": "Human", "refseq_name": "insulin-like growth factor 2 mRNA-binding protein 2 isoform b", "refseq_ac": [ { "id": "NP_001007226", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007226", "type": "external" } ], "gene_names_uniprotkb": "IGF2BP2; IMP2; VICKZ2", "gene_names_refseq": "IGF2BP2; IMP-2; IMP2; VICKZ2", "protein_names_uniprotkb": "Insulin-like growth factor 2 mRNA-binding protein 2; Hepatocellular carcinoma autoantigen p62; IGF-II mRNA-binding protein 2; IGF2 mRNA-binding protein 2; IMP-2; VICKZ family member 2", "protein_names_refseq": "IGF-II mRNA-binding protein 2; IGF2 mRNA-binding protein 2; VICKZ family member 2; insulin-like growth factor 2 mRNA-binding protein 2 isoform b", "tax_id": 9606, "disease": "acquired metabolic disease (Disease Ontology:DOID:0060158); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:10644); (R-HSA-428359)", "pathway_count": 2, "publication_count": 81, "publication_id_list": "10190901;10875929;11713986;12024010;12674497;12894594;15601260;16049158;16541107;16778892;17289661;17322306;17652133;18452278;18618095;18669648;18707149;18767875;19029303;19413330;19415658;19429674;19651622;19664994;19664995;19690332;20058876;20068231;20080952;20371350;21406692;22223895;22427968;23186163;23640942;24366607;25576301;25645385;26992070;27846572;27862975;28753127;28904123;29476152;29557506;30008714;30397120;30410026;31020640;31844290;32157095;32357974;32387766;32488085;32897882;32938616;32983136;33214551;33592498;33968037;33981976;34019948;34171305;34457052;34509645;34725712;35051231;35318648;35580925;36010968;36241641;36284347;37490916;37938771;38665916;38703029;38780170;38937789;39080693;39206979;9891060", "class_list": "", "function": "CircRHBDD1 promotes immune escape via IGF2BP2/PD-L1 signaling and acts as a nanotherapeutic target in gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; IGF2BP2 inhibits invasion and migration of clear cell renal cell carcinoma via targeting Netrin-4 in an m[6]A-dependent manner., [RefSeq, PubMed]; Long noncoding RNA BMPR1B-AS1 stability regulated by IGF2BP2 affects the decidualization in endometriosis patients through the SMAD1/5/9 pathway., [RefSeq, PubMed]; RNA-binding factor that recruits target transcripts to cytoplasmic protein-RNA complexes (mRNPs). This transcript 'caging' into mRNPs allows mRNA transport and transient storage. It also modulates the rate and location at which target transcripts encounter the translational apparatus and shields them from endonuclease attacks or microRNA-mediated degradation (By similarity). Preferentially binds to N6-methyladenosine (m6A)-containing mRNAs and increases their stability (PubMed:29476152). Binds to the 5'-UTR of the insulin-like growth factor 2 (IGF2) mRNAs (PubMed:9891060). Binding is isoform-specific. Binds to beta-actin/ACTB and MYC transcripts. Increases MYC mRNA stability by binding to the coding region instability determinant (CRD) and binding is enhanced by m6A-modification of the CRD (PubMed:29476152)., [UniProtKB, PubMed, PubMed, PubMed]; The RNA binding protein IGF2BP2/IMP2 alters the cargo of cancer cell-derived extracellular vesicles supporting tumor-associated macrophages. Publication Status: Online-Only, [RefSeq, PubMed]; The m6A reader IGF2BP2 promotes ESCC progression by stabilizing HDGF mRNA., [RefSeq, PubMed]; This gene encodes a protein that binds the 5' UTR of insulin-like growth factor 2 (IGF2) mRNA and regulates its translation. It plays an important role in metabolism and variation in this gene is associated with susceptibility to diabetes. Alternative splicing and promoter usage results in multiple transcript variants. Related pseudogenes are found on several chromosomes. [provided by RefSeq, Sep 2016]., [RefSeq]; Two isoforms of the mRNA binding protein IGF2BP2 are generated by alternative translational initiation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 7, "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": "A0A4Z0;B3FTN2;B3FTN3;B3FTN4", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003730 mRNA 3'-UTR binding;GO:0045182 translation regulator activity;GO:0048027 mRNA 5'-UTR binding;GO:1990247 N6-methyladenosine-containing RNA reader activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0000932 P-body", "go_biological_process": "GO:0070934 CRD-mediated mRNA stabilization;GO:0007399 nervous system development;GO:0001817 regulation of cytokine production;GO:0017148 negative regulation of translation;GO:0009653 anatomical structure morphogenesis", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "Q9Y6M1-2", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JVF3-1", "uniprot_id": [ { "id": "PCID2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JVF3", "type": "external" } ], "mass": 46030.0, "length": 399, "protein_name": "PCI domain-containing protein 2", "gene_name": "PCID2", "organism": "Human", "refseq_name": "PCI domain-containing protein 2 isoform 1", "refseq_ac": [ { "id": "NP_001120674", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120674", "type": "external" } ], "gene_names_uniprotkb": "PCID2; HT004", "gene_names_refseq": "PCID2", "protein_names_uniprotkb": "PCI domain-containing protein 2; CSN12-like protein", "protein_names_refseq": "CSN12-like protein; PCI domain-containing protein 2 isoform 1; PCI domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:55795)", "pathway_count": 1, "publication_count": 74, "publication_id_list": "15592455;17672918;20068231;22307388;22424782;22645359;23186163;23481700;23591820;24714562;24715725;24896180;25576301;25645385;26024233;26154972;26375851;26728094;26992070;27600516;27862975;28228285;28510447;28832583;28834231;28904123;29242379;29493099;29508533;29557506;29632711;29786170;30315122;30410026;30429286;30524438;31154438;31217245;31844290;31848261;31998317;32157095;32357974;32387766;32897882;32938616;32983136;33141586;33214551;33298915;33592498;33633747;33691108;33717175;33912179;33936100;33968037;34019948;34031538;34211107;34357683;34405274;34509645;34561969;34625711;34932366;35051231;35318648;35561310;35580925;36241641;38501418;38665916;40307207", "class_list": "", "function": "A novel amplification gene PCI domain containing 2 (PCID2) promotes colorectal cancer through directly degrading a tumor suppressor promyelocytic leukemia (PML). Erratum:[Oncogene. 2025 Mar;44(9):634-636. doi: 10.1038/s41388-025-03304-4. PMID: 39939727], [RefSeq, PubMed]; Increased chemosensitivity via BRCA2-independent DNA damage in DSS1- and PCID2-depleted breast carcinomas., [RefSeq, PubMed]; Required for B-cell survival through the regulation of the expression of cell-cycle checkpoint MAD2L1 protein during B cell differentiation (By similarity). As a component of the TREX-2 complex, involved in the export of mRNAs to the cytoplasm through the nuclear pores (PubMed:22307388). Binds and stabilizes BRCA2 and is thus involved in the control of R-loop-associated DNA damage and transcription-associated genomic instability (PubMed:24896180). Blocks the activity of the SRCAP chromatin remodeling complex by interacting with SRCAP complex member ZNHIT1 and inhibiting its interaction with the complex (By similarity). This prevents the deposition of histone variant H2AZ1/H2A.Z at the nucleosomes of key lymphoid fate regulator genes which suppresses their expression and restricts lymphoid lineage commitment (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; This gene encodes a component of the TREX-2 complex (transcription and export complex 2), which regulates mRNA export from the nucleus. This protein regulates expression of Mad2 mitotic arrest deficient-like 1, a cell division checkpoint protein. This protein also interacts with and stabilizes Brca2 (breast cancer 2) protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]., [RefSeq]; Validated occurrence of an unusual TG 3' splice site in intron 2, [RefSeq, PubMed]; [PCID2 is highly expressed in gastric cancer and affects the prognosis by regulating cancer cell cycle and proliferation]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A6NK09;Q3ZCX1;Q5TC57;Q5TC58;Q9H7K1;Q9HBZ7;Q9NUK6;Q9NVY1;Q9NW44;Q9NWH3", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003690 double-stranded DNA binding", "go_cellular_component": "GO:0044615 nuclear pore nuclear basket;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0070390 transcription export complex 2", "go_biological_process": "GO:0016973 poly(A)+ mRNA export from nucleus;GO:0006406 mRNA export from nucleus;GO:0015031 protein transport;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0048536 spleen development", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q5JVF3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JT25-1", "uniprot_id": [ { "id": "RAB41_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JT25", "type": "external" } ], "mass": 25038.0, "length": 222, "protein_name": "Ras-related protein Rab-41", "gene_name": "RAB41", "organism": "Human", "refseq_name": "ras-related protein Rab-41 isoform 1", "refseq_ac": [ { "id": "NP_001027898", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027898", "type": "external" } ], "gene_names_uniprotkb": "RAB41", "gene_names_refseq": "RAB41", "protein_names_uniprotkb": "Ras-related protein Rab-41; 3.6.5.2", "protein_names_refseq": "RAB41, member RAS homolog family; ras-related protein Rab-41 isoform 1; ras-related protein Rab-41", "tax_id": 9606, "disease": "", "pathway": " (hsa:347517); (R-HSA-6811438); (R-HSA-8873719)", "pathway_count": 3, "publication_count": 69, "publication_id_list": "10189370;10652308;10652516;11141079;11237011;11389151;11447212;11675392;11718716;11748249;12011112;12383348;12429822;15018353;15504911;15718469;15728195;15758030;16401880;1648736;17114793;17274799;17411337;18086915;18256213;18451304;18532927;19164740;19536132;19603039;19715559;20163571;20874812;21807881;22013193;22188167;22694141;23091056;23239882;23378023;23462996;23839779;23936529;23940353;24023390;24119662;25341920;25708460;26969162;27920218;29582580;37802980;7957092;7991565;8164745;8349690;8375503;8513495;8631982;8636227;8662963;8836150;8945478;9244307;9476900;9510256;9653114;9707577;9915833", "class_list": "", "function": "Distinctive Rab41 effects on Golgi organization, ER-to-Golgi trafficking and cell growth Publication Status: Online-Only, [RefSeq, PubMed]; Rab41-mediated ESCRT machinery repairs membrane rupture by a bacterial toxin in xenophagy. Publication Status: Online-Only, [RefSeq, PubMed]; Streptococcus pneumoniae is entrapped by selective autophagy in pneumolysin- and ubiquitin-p62-LC3 cargo-dependent manners. Streptococcus pneumoniae-containing autophagic vesicles (PcAV) were formed only in the presence of Rab41-positive intact Golgi apparatuses. Nedd4-1 was recruited to PcAV which played a pivotal role in K63-linked polyubiquitin chain (K63Ub) generation on PcAV and elimination of intracellular bacteria., [RefSeq, PubMed]; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (PubMed:23936529). RAB41 is required for normal Golgi ribbon organization and ER-to-Golgi trafficking (PubMed:23936529)., [UniProtKB, PubMed]; This gene encodes a small GTP-binding protein that belongs to the largest family within the Ras superfamily. These proteins function as regulators of membrane trafficking. They cycle between inactive GDP-bound and activated GTP-bound states, which is controlled by GTP hydrolysis-activating proteins (GAPs). This family member can be activated by the GAP protein RN-Tre, and it is localized to the Golgi complex. [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": 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": "Q17RQ0", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.5.1.60", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.60", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0012505 endomembrane system", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0006890 retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum;GO:0042147 retrograde transport, endosome to Golgi;GO:1903292 protein localization to Golgi membrane;GO:0006891 intra-Golgi vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "Q5JT25-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6Y8-1", "uniprot_id": [ { "id": "S23IP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6Y8", "type": "external" } ], "mass": 111076.0, "length": 1000, "protein_name": "SEC23-interacting protein", "gene_name": "SEC23IP", "organism": "Human", "refseq_name": "SEC23-interacting protein isoform 1", "refseq_ac": [ { "id": "NP_009121", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009121", "type": "external" } ], "gene_names_uniprotkb": "SEC23IP; MSTP053", "gene_names_refseq": "MSTP053; P125A; P125; SEC23IP; iPLA1A; iPLA1beta", "protein_names_uniprotkb": "SEC23-interacting protein; p125", "protein_names_refseq": "SEC23-interacting protein isoform 1; intracellular phospholipase A1 beta", "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:11196); (R-HSA-204005)", "pathway_count": 2, "publication_count": 181, "publication_id_list": "10400679;10445031;10559959;10679020;10747087;10788476;10825291;10903204;10982397;11035026;11237011;11285137;11306556;11788596;11927603;12070132;12235121;15037235;15623529;16303754;16495487;16624868;16912714;17005010;17038314;17192411;17287728;17316621;17562788;17684057;18452278;18669648;18843296;19164740;19413330;19638414;19656848;19691289;20068231;20305658;20308572;20545907;20679433;20966969;21300897;21478858;21532587;21689688;21740066;22013193;22157747;22675024;22922100;23186163;23301498;23378591;23479643;23481700;23698585;23864707;24119662;24275569;24715725;24917561;25202031;25406594;25418920;25492864;25576301;25586378;25619252;25880248;26154972;26375851;26929215;26992070;27600516;27655845;27846572;27862975;27920218;28063628;28218747;28228285;28510447;28514659;28604694;28657654;28832583;28834231;28904123;29237092;29242379;29249144;29314611;29331515;29351928;29393594;29437277;29485866;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30059200;30315122;30397120;30410026;30524438;30573663;30620550;30779550;31092671;31154438;31222486;31492838;31530632;31844290;31848261;31998317;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32870666;32938616;32983136;33123756;33214551;33298915;33537174;33592498;33691108;33717175;33912179;33968037;33981976;34019948;34211107;34229054;34357683;34405274;34509645;34561969;34725712;34932366;35008409;35051231;35132862;35138101;35254053;35289036;35318648;35513511;35580925;36010968;36241641;37340703;37541260;37938771;38665916;39302247;39352497;39531497;39534244;40914422;8221884;8620540;8663406;9094723;9150144;9177194;9307973;9647643", "class_list": "", "function": "P125 is a mammalian-specific component of ER exit sites and participates in the organization of this compartment, [RefSeq, PubMed]; Plays a role in the organization of endoplasmic reticulum exit sites. Specifically binds to phosphatidylinositol 3-phosphate (PI(3)P), phosphatidylinositol 4-phosphate (PI(4)P) and phosphatidylinositol 5-phosphate (PI(5)P)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Sec23IP recruits VPS13B/COH1 to ER exit site-Golgi interface for tubular ERGIC formation., [RefSeq, PubMed]; This gene encodes a member of the phosphatidic acid preferring-phospholipase A1 family. The encoded protein is localized to endoplasmic reticulum exit sites and plays a critical role in ER-Golgi transport as part of the multimeric coat protein II complex. An orthologous gene in frogs is required for normal neural crest cell development, suggesting that this gene may play a role in Waardenburg syndrome neural crest defects. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]., [RefSeq]; Xenopus sec23ip is required for normal neural crest cell development, suggesting a role for the human ortholog in Waardenburg syndrome neural crest defects., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 35, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 35, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 35, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 49, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 35, "binding_glycan_count": 0, "secondary_ac_list": "D3DRD2;Q8IXH5;Q9BUK5", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0046872 metal ion binding;GO:0004620 phospholipase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0030134 COPII-coated ER to Golgi transport vesicle", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0007286 spermatid development;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0007030 Golgi organization;GO:0010256 endomembrane system organization", "synthesized_glycan_count": 0, "hit_score": 21.9, "record_id": "Q9Y6Y8-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NCR6-1", "uniprot_id": [ { "id": "SMIP6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NCR6", "type": "external" } ], "mass": 30167.0, "length": 262, "protein_name": "Sperm microtubule inner protein 6", "gene_name": "SPMIP6", "organism": "Human", "refseq_name": "sperm microtubule inner protein 6 isoform 4", "refseq_ac": [ { "id": "NP_001239124", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239124", "type": "external" } ], "gene_names_uniprotkb": "SPMIP6; C9orf24; CBE1; SMRP1", "gene_names_refseq": "C9orf24; CBE1; NYD-SP22; SMRP1; SPMIP6; bA573M23.4", "protein_names_uniprotkb": "Sperm microtubule inner protein 6; Ciliated bronchial epithelial protein 1; Spermatid-specific manchette-related protein 1; Testis development protein NYD-SP22", "protein_names_refseq": "ciliated bronchial epithelial protein 1; ciliated bronchial epithelium 1; sperm microtubule inner protein 6 isoform 4; spermatid-specific manchette-related protein 1; testis development protein NYD-SP22", "tax_id": 9606, "disease": "", "pathway": " (hsa:84688)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;15242845;19213785;28601408", "class_list": "", "function": "CBE1 may play an important role in the differentiation and/or function of ciliated cells in human airways, [RefSeq, PubMed]; Chronological regulation of CBE1/Cbe1 expression during pulmonary differentiation suggests involvement in ciliogenesis, with an additional role during early lung development., [RefSeq, PubMed]; May participate in intramanchette transport and midpiece formation of the sperm tail. May play a potential role in somatic cell proliferation., [UniProtKB, UniProtKB]; Our data strongly suggest an influence of CBE1 in ciliogenesis in spermatids due to the localization at the microtubules of the elongating spermatids, indicating a role in the intramanchette and/or intraflagellar transport mechanism., [RefSeq, PubMed]; This gene encodes a nuclear- or perinuclear-localized protein with no predicted domains or similarity to other known proteins. Expression of this gene is induced during the differentiation of bronchial epithelial cells, and the encoded protein may play a role in ciliogenesis. Alternatively spliced transcript variants 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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "Q5T598;Q5T599;Q5T5A0;Q8N9G4;Q96KD1;Q96LN1", "ec_number_list": [], "go_molecular_function": "GO:0043014 alpha-tubulin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0030317 flagellated sperm motility", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q8NCR6-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UIL1-1", "uniprot_id": [ { "id": "SCOC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UIL1", "type": "external" } ], "mass": 18045.0, "length": 159, "protein_name": "Short coiled-coil protein", "gene_name": "SCOC", "organism": "Human", "refseq_name": "short coiled-coil protein isoform 4", "refseq_ac": [ { "id": "NP_001146918", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001146918", "type": "external" } ], "gene_names_uniprotkb": "SCOC; HRIHFB2072; SCOCO", "gene_names_refseq": "HRIHFB2072; SCOCO; SCOC; UNC-69", "protein_names_uniprotkb": "Short coiled-coil protein", "protein_names_refseq": "short coiled-coil protein isoform 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:60592); (R-HSA-6811440)", "pathway_count": 2, "publication_count": 128, "publication_id_list": "10209123;10445031;10559959;10637310;10865125;10990452;11237011;11303027;11346801;11359012;11689439;11827983;11839770;12070132;12377769;12620188;12620189;14580338;14718928;15029241;15037235;15077113;15077114;15128430;15269279;15483056;15654769;15758030;15870108;15878329;16042553;16129887;16571679;16885419;16912714;16936697;17074750;17451557;17488291;17562788;17684057;17698061;18195106;18243103;18256213;18367545;18664496;18946081;19164740;19490898;19620288;20112406;20685960;21183348;21421921;21436057;21689688;21807881;22335553;22354037;22581368;22717455;23091056;23437303;23481700;24098481;24116125;24715725;24794632;25343031;25576301;26154972;26375851;26992070;27023175;27600516;27846572;28228285;28832583;28904123;29242379;29493099;29557506;29632046;29632711;29786170;30315122;31154438;31217245;31844290;32157095;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33592498;33691108;33845085;33936100;33968037;34211107;34357683;34405274;34509645;34932366;35051231;35580925;36010968;36241641;36284347;37938771;7909812;8221884;8440258;8620540;8636227;8670882;9050864;9177194;9230071;9590177;9853615", "class_list": "", "function": "Phosphorylation of the LIR Domain of SCOC Modulates ATG8 Binding Affinity and Specificity. Erratum:[J Mol Biol. 2021 Jul 23;433(15):167049. doi: 10.1016/j.jmb.2021.167049. PMID: 34052024], [RefSeq, PubMed]; Positive regulator of amino acid starvation-induced autophagy., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; SCOC SNPs were associated with lifetime cannabis use, but the association did not reach genome-wide significance. [Meta-Analysis] Publication Status: Online-Only, [RefSeq, PubMed]; SCOC forms a stable homogeneous complex with the coiled coil domain of FEZ1. SCOC dimerization and the SCOC surface residue R117 are important for this interaction. Erratum:[PLoS One. 2013;8(10). doi:10.1371/annotation/cb60d973-58aa-45e0-bbb3-1c7f5a42a8d2] Publication Status: Online-Only, [RefSeq, PubMed]; Studies indicate that FEZ1 (fasciculation and elongation protein zeta 1), SCOCO (short coiled-coil protein) and kinesins (kinesin heavy chain) are involved in biological transport process. Publication Status: Online-Only, [RefSeq, PubMed]; The identification of SCOC and WAC as novel regulatory proteins with diverse functions in autophagy contributes towards a fuller understanding of autophagosome formation., [RefSeq, PubMed]; This gene encodes a short coiled-coiled domain-containing protein that localizes to the Golgi apparatus. The encoded protein interacts with ADP-ribosylation factor-like proteins. Pseudogenes of this gene are found on chromosomes 1 and 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 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": 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": "B7WPH7;D3DNY7;E9PB65;Q6P5T9;Q7L2Y0;Q7Z4P2;Q96JY9;Q9BZB2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005829 cytosol", "go_biological_process": "GO:0016239 positive regulation of macroautophagy;GO:0061635 regulation of protein complex stability", "synthesized_glycan_count": 0, "hit_score": 12.9, "record_id": "Q9UIL1-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H4F8-1", "uniprot_id": [ { "id": "SMOC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H4F8", "type": "external" } ], "mass": 48163.0, "length": 434, "protein_name": "SPARC-related modular calcium-binding protein 1", "gene_name": "SMOC1", "organism": "Human", "refseq_name": "SPARC-related modular calcium-binding protein 1 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001030024", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001030024", "type": "external" } ], "gene_names_uniprotkb": "SMOC1", "gene_names_refseq": "OAS; SMOC1", "protein_names_uniprotkb": "SPARC-related modular calcium-binding protein 1; SMOC-1; Secreted modular calcium-binding protein 1", "protein_names_refseq": "SPARC-related modular calcium-binding protein 1 isoform 1 precursor; secreted modular calcium-binding protein 1", "tax_id": 9606, "disease": "microphthalmia with limb anomalies (Disease Ontology:DOID:0060861)", "pathway": " (hsa:64093)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;12130637;17386346;20359165;21194678;21194680;21750680;23090970;23481700;23584533;23646827;24190977;24715725;29393594;30429286;30459171;31848261;32161166;33484701;33529332;33757126;37074911;38429655;40930100", "class_list": "", "function": "Analyzed the secretory protein profiles of BMSCs grown in osteogenic medium (OSM) and identified SPARC-related modular calcium-binding protein 1 (SMOC1), a member of the SPARC family, as a regulator of osteoblast differentiation of BMSCs., [RefSeq, PubMed]; Downregulation of SMOC1 is associated with progression of colorectal traditional serrated adenomas. Publication Status: Online-Only, [RefSeq, PubMed]; Isolation of the novel gene SMOC-1 encoding a secreted modular protein containing an EF-hand calcium-binding domain; localization within basement membranes in kidney and skeletal muscle and expression in the zona pellucida surrounding the oocyte, [RefSeq, PubMed]; Plays essential roles in both eye and limb development. Probable regulator of osteoblast differentiation., [UniProtKB, PubMed, PubMed, PubMed]; SMOC-1 is of physiological interest because it codes a secreted glycoprotein with five domains, each containing regions homologous to those on other proteins that mediate cell-matrix interactions., [RefSeq, PubMed]; SMOC1 and IL-4 and IL-13 Cytokines Interfere with Ca(2+) Mobilization in Primary Human Keratinocytes., [RefSeq, PubMed]; SPARC-related modular calcium binding 1 regulates aortic valve calcification by disrupting BMPR-II/p-p38 signalling., [RefSeq, PubMed]; Secreted modular calcium-binding protein 1 binds and activates thrombin to account for platelet hyperreactivity in diabetes., [RefSeq, PubMed]; This gene encodes a multi-domain secreted protein that may have a critical role in ocular and limb development. Mutations in this gene are associated with microphthalmia and limb anomalies. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 19, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 19, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 19, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 10, "disease_count": 1, "glyco_site_count": 22, "binding_glycan_count": 0, "secondary_ac_list": "A8K1S3;B2R7P5;Q96F78", "ec_number_list": [], "go_molecular_function": "GO:0008201 heparin binding;GO:0005509 calcium ion binding;GO:0050840 extracellular matrix binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005604 basement membrane", "go_biological_process": "GO:0030154 cell differentiation;GO:0030198 extracellular matrix organization;GO:0060173 limb development;GO:0045667 regulation of osteoblast differentiation;GO:0001654 eye development", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q9H4F8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96DI7-1", "uniprot_id": [ { "id": "SNR40_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96DI7", "type": "external" } ], "mass": 39311.0, "length": 357, "protein_name": "U5 small nuclear ribonucleoprotein 40 kDa protein", "gene_name": "SNRNP40", "organism": "Human", "refseq_name": "U5 small nuclear ribonucleoprotein 40 kDa protein", "refseq_ac": [ { "id": "NP_004805", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004805", "type": "external" } ], "gene_names_uniprotkb": "SNRNP40; PRP8BP; SFP38; WDR57", "gene_names_refseq": "40K; HPRP8BP; PRP8BP; PRPF8BP; SNRNP40; SPF38; WDR57", "protein_names_uniprotkb": "U5 small nuclear ribonucleoprotein 40 kDa protein; 38 kDa-splicing factor; Prp8-binding protein; U5 snRNP 40 kDa protein; U5 snRNP-specific 40 kDa protein; U5-40K; WD repeat-containing protein 57; hPRP8BP", "protein_names_refseq": "38 kDa-splicing factor; Prp8-binding protein; U5 small nuclear ribonucleoprotein 40 kDa protein; U5 snRNP 40 kDa protein; U5 snRNP-specific 40 kDa protein; U5-40K; U5-40kD protein; WD repeat domain 57 (U5 snRNP specific); WD repeat-containing protein 57; small nuclear ribonucleoprotein 40kDa (U5); small nuclear ribonucleoprotein, U5 40kDa subunit", "tax_id": 9606, "disease": "", "pathway": " (hsa:9410); (R-HSA-72163); (R-HSA-72165); (R-HSA-9918481)", "pathway_count": 4, "publication_count": 181, "publication_id_list": "10207048;10882114;11014198;11101529;11233976;11333026;11607023;11747608;11991638;12176931;12411573;12414731;12477934;14519844;14625303;14713954;14762106;15084397;16314458;16723661;16809785;17095540;17332742;17606899;17940139;18322460;18452278;18593880;19052544;19103666;19165350;19536130;20423332;20980672;21536652;2176635;21911577;22110043;22121020;22365833;22959432;22961380;23222130;23236153;23345524;24196718;24304693;24366607;24448447;24715725;24737827;24914973;2524422;25555158;25576301;2558966;25645385;25755297;26092250;26154972;26385511;26420826;26758079;26912367;26969736;26992070;27108190;27377154;27459055;27510544;27683217;27846572;27920218;28062851;28063628;28076346;28218747;28228285;28446606;28502770;28510447;28781166;28832583;28834231;28904123;29242379;29301961;29360106;29361316;29393594;29437277;29493099;29508533;29557506;29632046;29632711;2963332;29786170;29902443;29930882;30315122;30315277;30410026;30429286;30484775;30524438;30599162;30705154;30728453;30765414;30975767;31154438;31217245;31409651;31530632;31844290;31848261;32157095;32161166;32179686;32265295;32329775;32350084;32357974;32387766;32488085;32494006;32502341;32522876;32897882;32938616;32983136;33141586;33177556;33214551;33243851;33298915;33392160;33446560;33509932;33592498;33633747;33691108;33717175;33912179;33968037;34019948;34087483;34185709;34301950;34561969;34822310;34932366;35008409;35051231;35154160;35215846;35251023;35318648;35385551;35561310;35580925;36010968;36284347;37054626;3757028;37938771;39534244;40914422;8566756;8608946;8835860;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529;9774689", "class_list": "", "function": "Novel genetic variants linked to prelabor rupture of membranes among Chinese pregnant women., [RefSeq, PubMed]; Required for pre-mRNA splicing as component of the activated spliceosome (PubMed:11991638, PubMed:28076346, PubMed:28502770, PubMed:28781166, PubMed:29301961, PubMed:29360106, PubMed:30315277, PubMed:30705154). Component of the U5 small nuclear ribonucleoprotein (snRNP) complex and the U4/U6-U5 tri-snRNP complex, building blocks of the spliceosome (PubMed:16723661, PubMed:26912367, PubMed:9774689). As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a component of the U5 small nuclear ribonucleoprotein (snRNP) particle. The U5 snRNP is part of the spliceosome, a multiprotein complex that catalyzes the removal of introns from pre-messenger RNAs. [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": 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": "B4DQJ1;O75938;O95320", "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:0071007 U2-type catalytic step 2 spliceosome", "go_biological_process": "GO:0000375 RNA splicing, via transesterification reactions;GO:0006396 RNA processing;GO:0000244 spliceosomal tri-snRNP complex assembly;GO:0008380 RNA splicing;GO:0000387 spliceosomal snRNP assembly", "synthesized_glycan_count": 0, "hit_score": 18.4, "record_id": "Q96DI7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HAU5-1", "uniprot_id": [ { "id": "RENT2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HAU5", "type": "external" } ], "mass": 147810.0, "length": 1272, "protein_name": "Regulator of nonsense transcripts 2", "gene_name": "UPF2", "organism": "Human", "refseq_name": "regulator of nonsense transcripts 2", "refseq_ac": [ { "id": "NP_056357", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056357", "type": "external" } ], "gene_names_uniprotkb": "UPF2; KIAA1408; RENT2", "gene_names_refseq": "HUPF2; RENT2; UPF2; smg-3", "protein_names_uniprotkb": "Regulator of nonsense transcripts 2; Up-frameshift suppressor 2 homolog; hUpf2", "protein_names_refseq": "FRS2/UPF2/LEMD3 fusion; LEMD3/UPF2 fusion; UPF2 regulator of nonsense transcripts homolog; nonsense mRNA reducing factor 2; regulator of nonsense transcripts 2; smg-3 homolog, nonsense mediated mRNA decay factor; up-frameshift suppressor 2 homolog; yeast Upf2p homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:26019); (R-HSA-9010553); (R-HSA-975957)", "pathway_count": 3, "publication_count": 133, "publication_id_list": "11073994;11113196;11163187;11331269;11532962;11544179;11546874;11551508;12417715;12554878;12718880;12832468;14527413;14636577;14742663;14973490;15004547;15034551;15546618;15721257;16186820;16209946;16284618;16452507;16601204;17053788;17352659;17363904;17803942;17893241;18066079;18256688;18423202;18452278;18524595;18657639;18974281;19060897;19150429;19359157;19413330;19417104;19478851;19503078;19556969;19651622;19706539;19859661;19909264;20023408;20068231;20112406;20479275;20691628;20817927;20930030;21145460;21406692;21419344;23085078;23186163;23217742;23234702;23746841;24714562;25242263;25418920;25576301;25892735;26154972;26811146;26992070;27600516;27846572;27920218;28063628;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29769354;29786170;30315122;30379171;30429286;30524438;30779550;31154438;31217245;31530632;31844290;31848261;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33537174;33592498;33936100;33968037;33981976;34087483;34171305;34185709;34509645;34561969;34932366;35051231;35580925;35640974;36010968;36215666;36241641;36284347;36456182;37217939;37938771;38056247;38709891", "class_list": "", "function": "An alternative spliced UPF2 transcript in pancreatic inflammatory myofibroblastic tumors., [RefSeq, PubMed]; Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by associating with the nuclear exon junction complex (EJC). Recruited by UPF3B associated with the EJC core at the cytoplasmic side of the nuclear envelope and the subsequent formation of an UPF1-UPF2-UPF3 surveillance complex (including UPF1 bound to release factors at the stalled ribosome) is believed to activate NMD. In cooperation with UPF3B stimulates both ATPase and RNA helicase activities of UPF1. Binds spliced mRNA., [UniProtKB, PubMed, PubMed, PubMed]; Modulation of RNA-binding properties of the RNA helicase UPF1 by its activator UPF2., [RefSeq, PubMed]; Structures of nonsense-mediated mRNA decay factors UPF3B and UPF3A in complex with UPF2 reveal molecular basis for competitive binding and for neurodevelopmental disorder-causing mutation., [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 is located in the perinuclear area. It interacts with translation release factors and the proteins that are functional homologs of yeast Upf1p and Upf3p. Two splice variants have been found for this gene; both variants encode the same protein. [provided by RefSeq, Jul 2008]., [RefSeq]; UPF1 helicase orchestrates mutually exclusive interactions with the SMG6 endonuclease and UPF2., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 19, "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": "A6NLJ5;D3DRS0;Q14BM1;Q5W0J4;Q8N8U1;Q9H1J2;Q9NWL1;Q9P2D9;Q9Y4M9", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0042162 telomeric DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm;GO:0035145 exon-exon junction complex", "go_biological_process": "GO:0006406 mRNA export from nucleus;GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay", "synthesized_glycan_count": 0, "hit_score": 13.6, "record_id": "Q9HAU5-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5S9-1", "uniprot_id": [ { "id": "RBM8A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5S9", "type": "external" } ], "mass": 19889.0, "length": 174, "protein_name": "RNA-binding protein 8A", "gene_name": "RBM8A", "organism": "Human", "refseq_name": "RNA-binding protein 8A", "refseq_ac": [ { "id": "NP_005096", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005096", "type": "external" } ], "gene_names_uniprotkb": "RBM8A; HSPC114; MDS014; RBM8", "gene_names_refseq": "BOV-1A; BOV-1B; BOV-1C; C1DELq21.1; DEL1q21.1; MDS014; RBM8A; RBM8; TAR; Y14; ZNRP; ZRNP1", "protein_names_uniprotkb": "RNA-binding protein 8A; BOV-1; Binder of OVCA1-1; RNA-binding motif protein 8A; RNA-binding protein Y14; Ribonucleoprotein RBM8A", "protein_names_refseq": "BOV-1; RNA-binding protein 8A; RNA-binding protein Y14; binder of OVCA1-1; exon junction complex core component Y14; ribonucleoprotein RBM8A; ribonucleoprotein RBM8", "tax_id": 9606, "disease": "thrombocytopenia-absent radius syndrome (Disease Ontology:DOID:14699)", "pathway": " (hsa:9939); (R-HSA-159236); (R-HSA-72163); (R-HSA-72187); (R-HSA-9010553); (R-HSA-975957)", "pathway_count": 6, "publication_count": 279, "publication_id_list": "10228171;10323864;10489353;10662555;10668806;10882114;11004516;11013075;11014198;11030346;11073998;11101529;11118221;11233976;11256625;11259411;11259602;11331269;11447110;11532962;11544179;11546873;11546874;11551508;11579093;11707068;11707413;11739738;11756420;11979277;11991638;12093754;12121612;12176931;12411573;12414731;12417715;12477934;12554878;12718880;12730685;12781131;12832468;12871933;12944400;14527413;14625303;14636577;14713954;14742663;14968132;14973490;15034551;15302935;15546618;15721257;15998806;16083285;16100109;16170325;16186820;16209946;16284618;16303743;16314397;16314458;16452507;16601204;16809785;16923391;16931718;16964243;17000901;17053788;17081983;17095540;17190602;17332742;17352659;17363904;17606899;17803942;17893241;17984224;18026120;18066079;18212344;18256688;18322460;18364396;18411249;18423201;18423202;18452278;18524595;18593880;18657639;18669648;18957205;18974281;18991276;19033377;19060897;19103666;19150429;19165350;19324961;19359157;19409878;19410547;19417104;19478851;19503078;19536130;19556969;19651622;19690332;19706539;19836239;19859661;19909264;20023408;20068231;20129943;20423332;20479275;20573985;20691628;20817927;20844015;20930030;20980672;21145460;21406692;21419344;21536652;2176635;21947206;22110043;22203037;22207203;22365833;22366785;22893130;22928037;22959432;22961380;23085078;23186163;23217742;23222130;23234702;23236153;23299939;23345524;23746841;23826332;23917022;24196718;24244187;24304693;24366607;24448447;24714562;24715725;24737827;24914973;25218447;25242263;25349214;25418920;25555158;25576301;2558966;25645385;25662211;25836925;25880248;26154972;26385511;26420826;26969736;26992070;27377154;27459055;27600516;27683217;27846572;27920218;28062851;28063628;28076346;28502770;28510447;28514659;28781166;28832583;28834231;28904123;29301961;29331515;29360106;29361316;29393594;29493099;29508533;29557506;29632046;29632711;2963332;29786170;29789417;30315122;30315277;30410026;30705154;30728453;30765414;30779550;30833945;30975767;31222486;31409651;31530632;31844290;31848261;32157095;32179686;32329775;32357974;32387766;32488085;32494006;32502341;32897882;32938616;32983136;33214551;33243851;33446560;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34301950;34561969;34822310;34932366;35051231;35318648;35385551;35561310;35580925;36010968;36077017;36105365;36284347;37020021;37217939;3757028;37938771;39232805;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9618489;9660949;9671485;9701291;9731529", "class_list": "", "function": "RBM8A Depletion Decreases the Cisplatin Resistance and Represses the Proliferation and Metastasis of Breast Cancer Cells via AKT/mTOR Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; RBM8A, a new target of TEAD4, promotes breast cancer progression by regulating IGF1R and IRS-2. Publication Status: Online-Only, [RefSeq, PubMed]; Required for pre-mRNA splicing as component of the spliceosome (PubMed:28502770, PubMed:29301961). Core component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junctions 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. The EJC marks the position of the exon-exon junction in the mature mRNA for the gene expression machinery and the core components remain bound to spliced mRNAs throughout all stages of mRNA metabolism thereby influencing downstream processes including nuclear mRNA export, subcellular mRNA localization, translation efficiency and nonsense-mediated mRNA decay (NMD). The MAGOH-RBM8A heterodimer inhibits the ATPase activity of EIF4A3, thereby trapping the ATP-bound EJC core onto spliced mRNA in a stable conformation. The MAGOH-RBM8A heterodimer interacts with the EJC key regulator PYM1 leading to EJC disassembly in the cytoplasm and translation enhancement of EJC-bearing spliced mRNAs by recruiting them to the ribosomal 48S preinitiation complex. Its removal from cytoplasmic mRNAs requires translation initiation from EJC-bearing spliced mRNAs. Associates preferentially with mRNAs produced by splicing. Does not interact with pre-mRNAs, introns, or mRNAs produced from intronless cDNAs. Associates with both nuclear mRNAs and newly exported cytoplasmic mRNAs. The MAGOH-RBM8A heterodimer is a component of the nonsense mediated decay (NMD) pathway. 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 function is different from the established EJC assembly., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a protein with a conserved RNA-binding motif. The protein is found predominantly in the nucleus, although it is also present in the cytoplasm. It is preferentially associated with mRNAs produced by splicing, including both nuclear mRNAs and newly exported cytoplasmic mRNAs. It is thought that the protein remains associated with spliced mRNAs as a tag to indicate where introns had been present, thus coupling pre- and post-mRNA splicing events. Previously, it was thought that two genes encode this protein, RBM8A and RBM8B; it is now thought that the RBM8B locus is a pseudogene. There are two alternate translation start codons with this gene, which result in two forms of the protein. An allele mutation and a low-frequency noncoding single-nucleotide polymorphism (SNP) in this gene cause thrombocytopenia-absent radius (TAR) syndrome. [provided by RefSeq, Jul 2013]., [RefSeq]; Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant in RBM8A That Expands the Spectrum of Null Alleles. 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": 9, "reported_mutagensis": 4, "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": "B3KQI9;Q6FHD1;Q6IQ40;Q9GZX8;Q9NZI4", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016607 nuclear speck", "go_biological_process": "GO:0016071 mRNA metabolic process;GO:0006406 mRNA export from nucleus;GO:0006417 regulation of translation;GO:0008380 RNA splicing;GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay", "synthesized_glycan_count": 0, "hit_score": 28.2, "record_id": "Q9Y5S9-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y3C4-1", "uniprot_id": [ { "id": "TPRKB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y3C4", "type": "external" } ], "mass": 19661.0, "length": 175, "protein_name": "EKC/KEOPS complex subunit TPRKB", "gene_name": "TPRKB", "organism": "Human", "refseq_name": "EKC/KEOPS complex subunit TPRKB isoform a", "refseq_ac": [ { "id": "NP_001317315", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317315", "type": "external" } ], "gene_names_uniprotkb": "TPRKB; CGI-121; My019", "gene_names_refseq": "CGI-121; CGI121; GAMOS5; TPRKB", "protein_names_uniprotkb": "EKC/KEOPS complex subunit TPRKB; PRPK-binding protein; TP53RK-binding protein", "protein_names_refseq": "EKC/KEOPS complex subunit TPRKB isoform a; EKC/KEOPS complex subunit TPRKB; PRPK (p53-related protein kinase)-binding protein", "tax_id": 9606, "disease": "Galloway-Mowat syndrome 5 (Disease Ontology:DOID:0080247)", "pathway": " (hsa:51002); (R-HSA-6782315)", "pathway_count": 2, "publication_count": 106, "publication_id_list": "10430867;10982862;11027153;11111046;12403464;12659830;15861136;15870694;15994936;16043508;16424344;17071714;18567810;18951093;19017811;19414587;20068231;20123966;20308323;20354154;20584901;21059936;21131277;22344696;22544926;22591353;22898188;22912744;22995836;23042678;23048041;23381944;23604283;24126054;24204302;24715725;24901367;25261850;25404562;25576301;25645385;25880248;25916855;26154972;26160102;26310293;26992070;27055666;27600516;27846572;27903914;27920218;28228285;28510447;28805828;28832583;28904123;29242379;29493099;29557506;30315122;30429286;30524438;30779550;30833945;31154438;31222486;31481669;31530632;31844290;31848261;31937595;31998317;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33392160;33537174;33547416;33592498;33691108;33936100;33968037;34087483;34171305;34211107;34357683;34405274;34509645;34561969;35051231;35580925;36010968;36215666;36241641;36610787;39182664;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:28805828). 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:28805828). TPRKB acts as an allosteric effector that regulates the t(6)A activity of the complex. TPRKB is not required for tRNA modification (PubMed:22912744, PubMed:28805828)., [UniProtKB, PubMed, PubMed]; Crystal structure of the human PRPK-TPRKB complex. Publication Status: Online-Only, [RefSeq, PubMed]; METTL5 enhances the mRNA stability of TPRKB through m[6]A modification to facilitate the aggressive phenotypes of hepatocellular carcinoma cell., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "D6W5H6;Q8IWR6;Q8IWR7;Q9H3K4", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000408 EKC/KEOPS complex", "go_biological_process": "GO:1990145 maintenance of translational fidelity;GO:0002949 tRNA threonylcarbamoyladenosine modification", "synthesized_glycan_count": 0, "hit_score": 10.9, "record_id": "Q9Y3C4-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y547-1", "uniprot_id": [ { "id": "IFT25_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y547", "type": "external" } ], "mass": 16297.0, "length": 144, "protein_name": "Intraflagellar transport protein 25 homolog", "gene_name": "IFT25", "organism": "Human", "refseq_name": "intraflagellar transport protein 25 homolog isoform a", "refseq_ac": [ { "id": "NP_001303864", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303864", "type": "external" } ], "gene_names_uniprotkb": "IFT25; C1orf41; HSPB11; HSPC034", "gene_names_refseq": "C1orf41; CFAP232; FAP232; HSPB11; HSPCO34; IFT25; PP25", "protein_names_uniprotkb": "Intraflagellar transport protein 25 homolog; Heat shock protein beta-11; Heat shock protein family B member 11; Hspb11; PP25; Placental protein 25", "protein_names_refseq": "heat shock protein beta-11; heat shock protein family B (small) member 11; heat shock protein family B (small), member 11; heat shock protein family B member 11; intraflagellar transport 25 homolog; intraflagellar transport protein 25 homolog isoform a; intraflagellar transport protein 25 homolog; placental protein 25", "tax_id": 9606, "disease": "", "pathway": " (hsa:51668); (R-HSA-5620924)", "pathway_count": 2, "publication_count": 117, "publication_id_list": "10069812;11237011;11285270;12795688;15231740;15269286;15489852;15523559;15955805;16049494;16435301;16492809;16775004;16782012;17275951;17312020;17314406;17574030;18154656;18180368;18304522;18364699;18369462;18816799;18852297;19112494;19147001;19253336;19384852;19450523;19720863;19805633;19921466;2018407;20435895;20526327;20526328;20530210;20889716;21427764;21936775;22118932;22922713;22992454;23945166;23990561;24140113;24296415;24596149;24616010;24715725;25205765;25349261;25443296;25576301;26154972;26992070;27600516;27846572;27920218;28218747;28228285;28446606;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29632711;29786170;30429286;30484775;30524438;31092671;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33592498;33691108;33717175;33912179;33968037;33981976;34087483;34171305;34357683;34509645;34888642;34932366;35051231;35561310;35580925;36010968;36215666;36284347;39894887;8516294;8522608;9114011;9585416;9585417;9852153", "class_list": "", "function": "Component of the IFT complex B required for sonic hedgehog/SHH signaling. May mediate transport of SHH components: required for the export of SMO and PTCH1 receptors out of the cilium and the accumulation of GLI2 at the ciliary tip in response to activation of the SHH pathway, suggesting it is involved in the dynamic transport of SHH signaling molecules within the cilium. Not required for ciliary assembly. Its role in intraflagellar transport is mainly seen in tissues rich in ciliated cells such as kidney and testis. Essential for male fertility, spermiogenesis and sperm flagella formation. Plays a role in the early development of the kidney. May be involved in the regulation of ureteric bud initiation (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Hsp16.2 expression is directly correlated with the histological grade of brain tumors. Publication Status: Online-Only, [RefSeq, PubMed]; Impaired cooperation between IFT74/BBS22-IFT81 and IFT25-IFT27/BBS19 causes Bardet-Biedl syndrome., [RefSeq, PubMed]; These data suggest that Hsp16.2 can prevent the destabilization of mitochondrial membrane systems and could represent a suitable target for modulating cell death pathways., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A6NG57;D3DQ45;Q9Y684", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding", "go_cellular_component": "GO:0005813 centrosome;GO:0005929 cilium;GO:0030991 intraciliary transport particle A;GO:0030992 intraciliary transport particle B;GO:0097542 ciliary tip", "go_biological_process": "GO:0007283 spermatogenesis;GO:0015031 protein transport;GO:0030154 cell differentiation;GO:0001822 kidney development;GO:0060271 cilium assembly", "synthesized_glycan_count": 0, "hit_score": 12.0, "record_id": "Q9Y547-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P28062-1", "uniprot_id": [ { "id": "PSB8_HUMAN", "url": "https://www.uniprot.org/uniprot/P28062", "type": "external" } ], "mass": 30354.0, "length": 276, "protein_name": "Proteasome subunit beta type-8", "gene_name": "PSMB8", "organism": "Human", "refseq_name": "proteasome subunit beta type-8 isoform E1", "refseq_ac": [ { "id": "NP_004150", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004150", "type": "external" } ], "gene_names_uniprotkb": "PSMB8; LMP7; PSMB5i; RING10; Y2", "gene_names_refseq": "ALDD; D6S216E; D6S216; JMP; LMP7; NKJO; PRAAS1; PSMB5i; PSMB8; RING10", "protein_names_uniprotkb": "Proteasome subunit beta type-8; 3.4.25.1; Low molecular mass protein 7; Macropain subunit C13; Multicatalytic endopeptidase complex subunit C13; Proteasome component C13; Proteasome subunit beta-5i; Really interesting new gene 10 protein", "protein_names_refseq": "low molecular mass protein 7; low molecular weight protein 7; macropain subunit C13; multicatalytic endopeptidase complex subunit C13; protease component C13; proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7); proteasome catalytic subunit 3i; proteasome component C13; proteasome subunit Y2; proteasome subunit beta 5i; proteasome subunit beta 8; proteasome subunit beta type-8 isoform E1; proteasome-related gene 7; really interesting new gene 10 protein", "tax_id": 9606, "disease": "proteasome-associated autoinflammatory syndrome 1 (Disease Ontology:DOID:0050553); proteosome-associated autoinflammatory syndrome (Disease Ontology:DOID:0060913); neurodegenerative disease (Disease Ontology:DOID:1289)", "pathway": " (hsa:5696); (R-HSA-1236974); (R-HSA-1236978); (R-HSA-909733); (R-HSA-9907900); (R-HSA-9912633)", "pathway_count": 6, "publication_count": 217, "publication_id_list": "10395669;10542297;10973495;10982844;11092454;11237011;11337497;11350924;11377645;11404376;11493458;11585831;11717192;12029096;12061891;12766484;12842042;1429565;1453454;14550573;14769151;15047845;15312780;15449939;15488952;15501285;15592474;15778442;15831487;15907481;15944226;16009940;16171819;16251969;16423992;16818754;16987978;16990800;17142736;17189198;17251292;17262812;1730654;17351669;17540904;17948026;17969444;18035202;18249105;18575461;18692471;19217269;1922342;19317650;19443843;19490896;19525961;19619915;20028659;20130243;20363976;20471946;20643137;21129723;21852578;21881205;21953331;2211721;22153078;22299025;22544926;23061660;23121362;23481700;23613522;23783831;24417533;24714562;24715725;25083866;25371710;25418920;25505266;25576301;25645385;25880248;25892735;26154972;26375851;26524591;26567544;26728094;26758079;26992070;27049119;27397612;27503676;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28263418;28352266;28442575;28467828;28514659;28598414;28649982;28832583;28834231;28904123;29242379;29314611;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30410026;30429286;30485383;30524438;30573663;31020640;31154438;31844290;31848261;31937595;31998317;32032529;32113509;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32511913;32574262;32661006;32758689;32862111;32897882;32938616;32983136;33043033;33117408;33123756;33141586;33189161;33193462;33298915;33392160;33396578;33537174;33592498;33633747;33717175;33912179;33936100;33968037;34211107;34357683;34509645;34561969;34725712;34932366;35051231;35154160;35318648;35561310;35580925;36010968;36284347;37974228;38404572;38665916;38771128;39273140;40914422;6162102;6548414;688397;7510216;7526154;7537377;7540766;8163024;8197134;8232552;8344725;8458375;8568858;8605876;8621447;8663318;8702790;9096384;9121453;9157092;9242679;9334213;9660177;9847332;9861020", "class_list": "", "function": "Component of the proteasome, a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity., [UniProtKB, UniProtKB]; HOXD9/miR-451a/PSMB8 axis is implicated in the regulation of cell proliferation and metastasis via PI3K/AKT signaling pathway in human anaplastic thyroid carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Human Beta Defensin-2 mRNA and Proteasome Subunit beta Type 8 mRNA Analysis, Useful in Differentiating Skin Biopsies from Atopic Dermatitis and Psoriasis Vulgaris Patients. Publication Status: Online-Only, [RefSeq, PubMed]; Long Noncoding RNA PSMB8-AS1 Mediates the Tobacco-Carcinogen-Induced Transformation of a Human Bronchial Epithelial Cell Line by Regulating Cell Cycle., [RefSeq, PubMed]; Peripheral blood mononuclear cell low molecular mass protein 7 in acute ischemic stroke: vertical change from admission to discharge and correlation with disability, stroke recurrence, and death. Publication Status: Online-Only, [RefSeq, PubMed]; The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. This subunit is involved in antigen processing to generate class I binding peptides. Replacement of PSMB5 by PSMB8 increases the capacity of the immunoproteasome to cleave model peptides after hydrophobic and basic residues. Involved in the generation of spliced peptides resulting from the ligation of two separate proteasomal cleavage products that are not contiguous in the parental protein (PubMed:27049119). Acts as a major component of interferon gamma-induced sensitivity. Plays a key role in apoptosis via the degradation of the apoptotic inhibitor MCL1. May be involved in the inflammatory response pathway. In cancer cells, substitution of isoform 1 (E2) by isoform 2 (E1) results in immunoproteasome deficiency. Required for the differentiation of preadipocytes into adipocytes., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is located in the class II region of the MHC (major histocompatibility complex). Expression of this gene is induced by gamma interferon and this gene product replaces catalytic subunit 3 (proteasome beta 5 subunit) in the immunoproteasome. Proteolytic processing is required to generate a mature subunit. Two alternative transcripts encoding two isoforms have been identified; both isoforms are processed to yield the same mature subunit. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B0UZC0;Q29824;Q5JNW6;Q5QNR8;Q96J48", "ec_number_list": [ { "id": "2.7.7.84", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.84", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.5.4.37", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.37", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "4.2.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.-.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "2.7.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.-.-", "type": "external" }, { "id": "2.7.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.-", "type": "external" }, { "id": "3.1.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.5.-", "type": "external" } ], "go_molecular_function": "GO:0004175 endopeptidase activity;GO:0004298 threonine-type endopeptidase activity", "go_cellular_component": "GO:0019774 proteasome core complex, beta-subunit complex;GO:1990111 spermatoproteasome complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0045063 T-helper 1 cell differentiation;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0032760 positive regulation of tumor necrosis factor production;GO:0045444 fat cell differentiation;GO:0032729 positive regulation of type II interferon production", "synthesized_glycan_count": 0, "hit_score": 22.0, "record_id": "P28062-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T6V5-1", "uniprot_id": [ { "id": "QNG1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T6V5", "type": "external" } ], "mass": 39029.0, "length": 341, "protein_name": "Queuosine 5'-phosphate N-glycosylase/hydrolase", "gene_name": "QNG1", "organism": "Human", "refseq_name": "queuosine 5'-phosphate N-glycosylase/hydrolase isoform 2", "refseq_ac": [ { "id": "NP_001304926", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304926", "type": "external" } ], "gene_names_uniprotkb": "QNG1; C9orf64", "gene_names_refseq": "C9orf64; QNG1", "protein_names_uniprotkb": "Queuosine 5'-phosphate N-glycosylase/hydrolase; 3.2.2.-; Q-nucleotide N-glycosylase 1; Queuine salvage protein QNG1; Queuosine-nucleotide N-glycosylase/hydrolase", "protein_names_refseq": "UPF0553 protein C9orf64; queuine salvage protein QNG1; queuosine 5'-phosphate N-glycosylase/hydrolase isoform 2; queuosine 5'-phosphate N-glycosylase/hydrolase; queuosine salvage protein; queuosine-nucleotide N-glycosylase/hydrolase", "tax_id": 9606, "disease": "", "pathway": " (hsa:84267); (R-HSA-6782315)", "pathway_count": 2, "publication_count": 70, "publication_id_list": "10430867;10982862;11027153;11111046;11237011;12403464;15861136;15870694;15994936;16043508;16424344;17071714;18491316;18567810;19017811;19414587;20068231;20123966;20308323;20354154;20584901;21059936;21131277;22344696;22591353;22995836;23042678;23048041;23381944;23481700;23604283;24126054;24204302;24901367;24911101;25261850;25404562;25916855;26160102;26310293;27055666;27846572;27862975;27920218;28832583;29242379;29493099;29557506;29632046;30429286;31481669;31530632;31848261;32157095;32350084;32387766;32938616;33043033;33592498;33968037;34509645;35051231;35138101;35251023;35580925;36215666;36610787;40914422;9430663;9851972", "class_list": "", "function": "Catalyzes the hydrolysis of queuosine 5'-phosphate, releasing the nucleobase queuine (q). Is required for salvage of queuine from exogenous queuosine (Q) that is imported and then converted to queuosine 5'-phosphate intracellularly. In vitro, can also catalyze the release of the q base directly from Q as substrate; however, it was shown that Q is not the biologically relevant substrate. Shows a very low activity on queuosine 3',5'-diphosphate, and cannot release q from queuosine 3'-phosphate and from the 5'-nucleotides AMP, UMP, CMP or GMP, indicating specificity for the queuine base (PubMed:36610787). Can complement the yeast mutant SPAC589.05c, restoring Q incorporation into tRNA (PubMed:24911101)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Structural basis of Qng1-mediated salvage of the micronutrient queuine from queuosine-5'-monophosphate as the biological 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RPI6;Q8N2B1;Q9BT18", "ec_number_list": [ { "id": "3.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.-", "type": "external" } ], "go_molecular_function": "GO:0016787 hydrolase activity;GO:0106432 queuosine nucleosidase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0006400 tRNA modification;GO:0043174 nucleoside salvage;GO:0043096 purine nucleobase salvage;GO:0160254 tRNA queuosine(34) biosynthetic process from salvaged queuosine or its precursors", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q5T6V5-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13702-1", "uniprot_id": [ { "id": "RAPSN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13702", "type": "external" } ], "mass": 46328.0, "length": 412, "protein_name": "43 kDa receptor-associated protein of the synapse", "gene_name": "RAPSN", "organism": "Human", "refseq_name": "43 kDa receptor-associated protein of the synapse isoform 1", "refseq_ac": [ { "id": "NP_005046", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005046", "type": "external" } ], "gene_names_uniprotkb": "RAPSN; RNF205", "gene_names_refseq": "CMS11; CMS4C; FADS; RAPSN; RAPSYN; RNF205", "protein_names_uniprotkb": "43 kDa receptor-associated protein of the synapse; 43 kDa postsynaptic protein; Acetylcholine receptor-associated 43 kDa protein; RAPsyn; RING finger protein 205", "protein_names_refseq": "43 kDa receptor-associated protein of the synapse isoform 1; 43 kDa receptor-associated protein of the synapse; 43 kda postsynaptic protein; RING finger protein 205; acetylcholine receptor-associated 43 kda protein", "tax_id": 9606, "disease": "congenital myasthenic syndrome 11 (Disease Ontology:DOID:0110675); fetal akinesia deformation sequence syndrome 2 (Disease Ontology:DOID:0111378)", "pathway": " (hsa:5913)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11237011;11791205;12730725;12796535;12929188;14504330;15036330;15282317;15328566;16931511;17594401;18179903;18252226;19158078;25418920;34033754;34357683;35051231;36815443;37646703;8812503", "class_list": "", "function": "Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature. Review article, [RefSeq, PubMed]; Membraneless condensates by Rapsn phase separation as a platform for neuromuscular junction formation. Erratum:[Neuron. 2022 Jan 19;110(2):350. doi: 10.1016/j.neuron.2021.12.032. PMID: 35051365], [RefSeq, PubMed]; Postsynaptic protein required for clustering of nicotinic acetylcholine receptors (nAChRs) at the neuromuscular junction. It may link the receptor to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin., [UniProtKB]; Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome, [RefSeq, PubMed]; The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome. Review article Publication Status: Online-Only, [RefSeq, PubMed]; These results provide the first experimental evidence that rapsyn is a direct sequence-specific target of Kaiso and delta-catenin., [RefSeq, PubMed]; This gene encodes a member of a family of proteins that are receptor associated proteins of the synapse. The encoded protein contains a conserved cAMP-dependent protein kinase phosphorylation site, and plays a critical role in clustering and anchoring nicotinic acetylcholine receptors at synaptic sites by linking the receptors to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin. Mutations in this gene may play a role in postsynaptic congenital myasthenic syndromes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 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": 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": "Q8TDF3;Q9BTD9", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0033130 acetylcholine receptor binding;GO:0043495 protein-membrane adaptor activity;GO:0035255 ionotropic glutamate receptor binding;GO:0098879 structural constituent of postsynaptic specialization", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0031594 neuromuscular junction;GO:0099634 postsynaptic specialization membrane", "go_biological_process": "GO:0007271 synaptic transmission, cholinergic;GO:0007268 chemical synaptic transmission;GO:0071340 skeletal muscle acetylcholine-gated channel clustering;GO:1900075 positive regulation of neuromuscular synaptic transmission;GO:1901626 regulation of postsynaptic membrane organization", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q13702-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5Z9-1", "uniprot_id": [ { "id": "UBIA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5Z9", "type": "external" } ], "mass": 36831.0, "length": 338, "protein_name": "UbiA prenyltransferase domain-containing protein 1", "gene_name": "UBIAD1", "organism": "Human", "refseq_name": "ubiA prenyltransferase domain-containing protein 1 isoform 3", "refseq_ac": [ { "id": "NP_001317279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317279", "type": "external" } ], "gene_names_uniprotkb": "UBIAD1; TERE1", "gene_names_refseq": "SCCD; TERE1; UBIAD1", "protein_names_uniprotkb": "UbiA prenyltransferase domain-containing protein 1; 2.5.1.-; 2.5.1.39; Transitional epithelial response protein 1", "protein_names_refseq": "transitional epithelia response protein; transitional epithelial response protein 1; ubiA prenyltransferase domain-containing protein 1 isoform 3; ubiA prenyltransferase domain-containing protein 1", "tax_id": 9606, "disease": "lymphoma (Disease Ontology:DOID:0060058); Schnyder corneal dystrophy (Disease Ontology:DOID:0060456)", "pathway": " (hsa:29914); (R-HSA-6806664)", "pathway_count": 2, "publication_count": 72, "publication_id_list": "11237011;11314041;12060134;12497587;14765194;14765195;15743920;15782423;16303743;17668063;17962451;18176953;18446792;19429578;19649163;20489584;20505825;20953171;21367861;22223895;23169578;23374346;23481700;23555621;23919835;23928358;24085302;24532791;25502872;25639072;25742604;25874989;25892735;27846572;27862975;27893789;27918545;27941861;28218747;28467828;28514659;28649982;29242379;29314611;29508533;29557506;29769354;30315122;31844290;32188638;32350084;32357974;32387766;32938616;32983136;33298915;33592498;33691108;33717175;33912179;33968037;34087483;34171305;34357683;34368857;34509645;35051231;35251023;35255427;35561310;36010968;36215666", "class_list": "", "function": "Data suggest that UBIAD1 encodes a potential prenyltransferase, and may play a direct role in intracellular cholesterol biochemistry, or may prenylate other proteins regulating cholesterol transport and storage. Publication Status: Online-Only, [RefSeq, PubMed]; Functional study of SCCD pathogenic gene UBIAD1 (Review)., [RefSeq, PubMed]; Prenyltransferase that mediates the formation of menaquinone-4 (MK-4) and coenzyme Q10 (PubMed:20953171, PubMed:23374346). MK-4 is a vitamin K2 isoform present at high concentrations in the brain, kidney and pancreas, and is required for endothelial cell development (PubMed:20953171). Mediates the conversion of phylloquinone (PK) into MK-4, probably by cleaving the side chain of phylloquinone (PK) to release 2-methyl-1,4-naphthoquinone (menadione; K3) and then prenylating it with geranylgeranyl pyrophosphate (GGPP) to form MK-4 (PubMed:20953171). Also plays a role in cardiovascular development independently of MK-4 biosynthesis, by acting as a coenzyme Q10 biosynthetic enzyme: coenzyme Q10, also named ubiquinone, plays an important antioxidant role in the cardiovascular system (PubMed:23374346). Mediates biosynthesis of coenzyme Q10 in the Golgi membrane, leading to protect cardiovascular tissues from NOS3/eNOS-dependent oxidative stress (PubMed:23374346)., [UniProtKB, PubMed, PubMed]; Schnyder corneal dystrophy-associated UBIAD1 is defective in MK-4 synthesis and resists autophagy-mediated degradation., [RefSeq, PubMed]; TERE1 maybe significant in prostate cancer growth regulation and the down regulation or absence of TERE1 may be an important component of the phenotype of advanced disease, [RefSeq, PubMed]; The objective of this study was to gain further insight into the function of the TERE1 protein by identifying potential protein to protein interactions with TERE1, [RefSeq, PubMed]; This gene encodes a protein thought to be involved in cholesterol and phospholipid metabolism. Mutations in this gene are associated with Schnyder crystalline corneal dystrophy. [provided by RefSeq, Oct 2008]., [RefSeq]; UBIAD1 and CoQ10 protect melanoma cells from lipid peroxidation-mediated cell death., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B3KQG3;Q53GX3;Q5THD4", "ec_number_list": [ { "id": "2.5.1.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.39", "type": "external" }, { "id": "2.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.-", "type": "external" } ], "go_molecular_function": "GO:0016209 antioxidant activity;GO:0004659 prenyltransferase activity;GO:0008412 4-hydroxybenzoate polyprenyltransferase activity;GO:0120566 menadiol geranylgeranyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0016020 membrane", "go_biological_process": "GO:0006744 ubiquinone biosynthetic process;GO:0009234 menaquinone biosynthetic process;GO:0042371 vitamin K biosynthetic process;GO:0042373 vitamin K metabolic process", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q9Y5Z9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ISU1-1", "uniprot_id": [ { "id": "PTCRA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ISU1", "type": "external" } ], "mass": 29266.0, "length": 281, "protein_name": "Pre T-cell antigen receptor alpha", "gene_name": "PTCRA", "organism": "Human", "refseq_name": "pre T-cell antigen receptor alpha isoform 1 precursor", "refseq_ac": [ { "id": "NP_001230097", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230097", "type": "external" } ], "gene_names_uniprotkb": "PTCRA", "gene_names_refseq": "IMD126; PT-ALPHA; PTA; PTCRA", "protein_names_uniprotkb": "Pre T-cell antigen receptor alpha; pT-alpha-TCR; pT-alpha; pTa", "protein_names_refseq": "pT-alpha-TCR; pre T-cell antigen receptor alpha isoform 1 precursor; pre-T-cell receptor alpha chain", "tax_id": 9606, "disease": "immunodeficiency 126, susceptibility to (MONDO:MONDO:0975761)", "pathway": " (hsa:171558); (R-HSA-9013508)", "pathway_count": 2, "publication_count": 21, "publication_id_list": "10964718;11237011;11866432;11891328;12386158;18974129;19527514;20944746;22396495;22795130;25417103;26154972;27749937;27841855;29557506;33652347;35051231;38422122;8618853;8760805;9842925", "class_list": "", "function": "Combined expression of pTalpha and Notch3 in T cell leukemia identifies the requirement of preTCR for leukemogenesis, [RefSeq, PubMed]; Component of the pre-T-cell receptor complex (composed of PTCRA, TCRB and the CD3 complex) that has a crucial role in early T-cell development, particularly alpha-beta T cell differentiation., [UniProtKB, PubMed]; Generation of self-reactive, shared T-cell receptor alpha chains in the human thymus., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a single-pass type I membrane protein that is found in immmature but not mature T-cells. Along with TCRB and CD3 complex, the encoded protein forms the pre-T-cell receptor complex, which regulates early T-cell development. Four transcript variants encoding different isoforms have been found for this gene.[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": 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": 6, "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": "Q5TFZ7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0070244 negative regulation of thymocyte apoptotic process;GO:0046632 alpha-beta T cell differentiation", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q6ISU1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2KHR3-1", "uniprot_id": [ { "id": "QSER1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2KHR3", "type": "external" } ], "mass": 189972.0, "length": 1735, "protein_name": "Glutamine and serine-rich protein 1", "gene_name": "QSER1", "organism": "Human", "refseq_name": "glutamine and serine-rich protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001070254", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070254", "type": "external" } ], "gene_names_uniprotkb": "QSER1", "gene_names_refseq": "QSER1", "protein_names_uniprotkb": "Glutamine and serine-rich protein 1", "protein_names_refseq": "glutamine and serine-rich protein 1 isoform 1; glutamine and serine-rich protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:79832)", "pathway_count": 1, "publication_count": 107, "publication_id_list": "10.1074/mcp.M114.046862;11237011;17525332;17924679;18452278;18669648;19413330;19415658;19651622;19664994;19690332;20068230;20068231;20305658;21158410;21406692;21606357;21740066;22661428;23186163;23301498;24715725;25418920;25576301;25645385;25813380;26154972;26992070;27600516;27846572;27862975;28228285;28411811;28514659;28604694;28657654;28832583;28834231;28904123;29237092;29242379;29331515;29393594;29557506;29786170;30059200;30379171;30410026;30484775;30524438;30620550;31217245;31324691;31492838;31844290;32119511;32157095;32357974;32387766;32488085;32522876;32574038;32897882;32938616;32938750;32983136;33141586;33214551;33298915;33537174;33592498;33717175;33833093;33912179;33968037;33981976;34019948;34087483;34171305;34211107;34405274;34509645;34561969;34725712;34846842;35051231;35132862;35138101;35254053;35289036;35318648;35513511;35580925;35705054;36010968;36215666;36241641;36284347;37340703;37541260;38665916;38838015;39302247;39531497;39534244;40136647;40307207", "class_list": "", "function": "Plays an essential role in the protection and maintenance of transcriptional and developmental programs. Protects many bivalent promoters and poised enhancers from hypermethylation, showing a marked preference for these regulatory elements over other types of promoters or enhancers. Mechanistically, cooperates with TET1 and binds to DNA in a common complex to inhibit the binding of DNMT3A/3B and therefore de novo methylation., [UniProtKB, PubMed]; QSER1 protects DNA methylation valleys from de novo 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": 73, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 73, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 73, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 20, "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": 73, "binding_glycan_count": 0, "secondary_ac_list": "Q6ZU30;Q6ZUR5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005694 chromosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 18.3, "record_id": "Q2KHR3-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9GZU2-1", "uniprot_id": [ { "id": "PEG3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9GZU2", "type": "external" } ], "mass": 180827.0, "length": 1588, "protein_name": "Paternally-expressed gene 3 protein", "gene_name": "PEG3", "organism": "Human", "refseq_name": "paternally-expressed gene 3 protein isoform 1", "refseq_ac": [ { "id": "NP_001139656", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139656", "type": "external" } ], "gene_names_uniprotkb": "PEG3; KIAA0287; ZSCAN24", "gene_names_refseq": "PEG3; PW1; ZKSCAN22; ZNF904; ZSCAN24", "protein_names_uniprotkb": "Paternally-expressed gene 3 protein; Zinc finger and SCAN domain-containing protein 24", "protein_names_refseq": "Kruppel-type zinc finger protein; paternally-expressed gene 3 protein isoform 1; paternally-expressed gene 3 protein; zinc finger and SCAN domain-containing protein 24", "tax_id": 9606, "disease": "", "pathway": " (hsa:5178)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11237011;11260267;11331620;11677152;16959974;23936039;25576301;25880248;28218747;28228285;29080840;29242379;29393594;29557506;31844290;32729618;33023834;33633747;34087483;34171305;34192708;35051231;35580925;37001595;37217939;37340703;37938771;9149948", "class_list": "", "function": "Epigenetic reactivation of PEG3 by EZH2 inhibitors suppresses renal clear cell carcinoma progress., [RefSeq, PubMed]; HPV-CCDC106 integration alters local chromosome architecture and hijacks an enhancer by three-dimensional genome structure remodeling in cervical cancer., [RefSeq, PubMed]; In human, ZIM2 and PEG3 are treated as two distinct genes though they share multiple 5' exons and a common promoter and both genes are paternally expressed (PMID:15203203). Alternative splicing events connect their shared 5' exons either with the remaining 4 exons unique to ZIM2, or with the remaining 2 exons unique to PEG3. In contrast, in other mammals ZIM2 does not undergo imprinting and, in mouse, cow, and likely other mammals as well, the ZIM2 and PEG3 genes do not share exons. Human PEG3 protein belongs to the Kruppel C2H2-type zinc finger protein family. PEG3 may play a role in cell proliferation and p53-mediated apoptosis. PEG3 has also shown tumor suppressor activity and tumorigenesis in glioma and ovarian cells. Alternative splicing of this PEG3 gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Sep 2009]., [RefSeq]; Induces apoptosis in cooperation with SIAH1A. Acts as a mediator between p53/TP53 and BAX in a neuronal death pathway that is activated by DNA damage. Acts synergistically with TRAF2 and inhibits TNF induced apoptosis through activation of NF-kappa-B (By similarity). Possesses a tumor suppressing activity in glioma cells., [UniProtKB, PubMed]; MiR-155-5p Promotes Cell Proliferation and Migration of Clear Cell Renal Cell Carcinoma by Targeting PEG3., [RefSeq, PubMed]; PEG3 gene is imprinted, with preferential expression from the paternal allele in human placenta., [RefSeq, PubMed]; PEG3 mutation is associated with elevated tumor mutation burden and poor prognosis in breast cancer., [RefSeq, PubMed]; Soluble matrix-derived cues being transduced downstream of receptor engagement converge upon a newly-discovered nexus of autophagic machinery consisting of Peg3 for endothelial cell autophagy and mitostatin for tumor cell mitophagy. 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 115, "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": "A7E2B8;B4DIM4;C9JP50;P78418;Q5H9P9;Q7Z7H7;Q8TF75;Q9GZY2", "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:0005776 autophagosome;GO:0005737 cytoplasm", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006915 apoptotic process;GO:0010468 regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q9GZU2-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92932-1", "uniprot_id": [ { "id": "PTPR2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92932", "type": "external" } ], "mass": 111271.0, "length": 1015, "protein_name": "Receptor-type tyrosine-protein phosphatase N2", "gene_name": "PTPRN2", "organism": "Human", "refseq_name": "receptor-type tyrosine-protein phosphatase N2 isoform 4 precursor", "refseq_ac": [ { "id": "NP_001295196", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295196", "type": "external" } ], "gene_names_uniprotkb": "PTPRN2; KIAA0387", "gene_names_refseq": "IA-2beta; IAR; ICAAR; PTPRN2; PTPRP; R-PTP-N2", "protein_names_uniprotkb": "Receptor-type tyrosine-protein phosphatase N2; 3.1.3.-; 3.1.3.48; IAR; ICAAR; Islet cell autoantigen-related protein; Phogrin; R-PTP-N2", "protein_names_refseq": "IAR/receptor-like protein-tyrosine phosphatase; islet cell autoantigen-related protein; phogrin; protein tyrosine phosphatase receptor pi; protein tyrosine phosphatase, receptor type, N polypeptide 2; receptor-type tyrosine-protein phosphatase N2 isoform 4 precursor; receptor-type tyrosine-protein phosphatase N2; tyrosine phosphatase IA-2 beta", "tax_id": 9606, "disease": "prediabetes syndrome (Disease Ontology:DOID:11716); Parkinson's disease (Disease Ontology:DOID:14330); diabetes mellitus (Disease Ontology:DOID:9351); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:5799); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 49, "publication_id_list": "10.1038/emboj.2013.79;11237011;16959974;18702456;19167335;19608861;20097759;23584533;23650620;24715725;25421040;25576301;26154972;26620550;26758079;28228285;29242379;29508533;29557506;30078552;30315122;30783092;30890718;31154438;31457096;31844290;31848261;31998317;32157095;32357974;32387766;32502341;32983136;33141586;33298915;33912179;34171305;34211107;34272834;34448213;35051231;35580925;36010968;38212800;8637868;8692836;8798755;8878534;8954911", "class_list": "", "function": "HOXD13 promotes the malignant progression of colon cancer by upregulating PTPRN2., [RefSeq, PubMed]; Interactions of genetic variations in FAS, GJB2 and PTPRN2 are associated with noise-induced hearing loss: a case-control study in China. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in vesicle-mediated secretory processes. Required for normal accumulation of secretory vesicles in hippocampus, pituitary and pancreatic islets. Required for the accumulation of normal levels of insulin-containing vesicles and preventing their degradation. Plays a role in insulin secretion in response to glucose stimuli. Required for normal accumulation of the neurotransmitters norepinephrine, dopamine and serotonin in the brain. In females, but not in males, required for normal accumulation and secretion of pituitary hormones, such as luteinizing hormone (LH) and follicle-stimulating hormone (FSH) (By similarity). Required to maintain normal levels of renin expression and renin release (By similarity). May regulate catalytic active protein-tyrosine phosphatases such as PTPRA through dimerization (By similarity). Has phosphatidylinositol phosphatase activity; the PIPase activity is involved in its ability to regulate insulin secretion. Can dephosphorylate phosphatidylinositol 4,5-biphosphate (PI(4,5)P2), phosphatidylinositol 5-phosphate and phosphatidylinositol 3-phosphate (By similarity). Regulates PI(4,5)P2 level in the plasma membrane and localization of cofilin at the plasma membrane and thus is indirectly involved in regulation of actin dynamics related to cell migration and metastasis; upon hydrolysis of PI(4,5)P2 cofilin is released from the plasma membrane and acts in the cytoplasm in severing F-actin filaments (PubMed:26620550)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Rab35 regulates insulin secretion via phogrin in pancreatic beta cells., [RefSeq, PubMed]; The association of genetically controlled CpG methylation (cg158269415) of protein tyrosine phosphatase, receptor type N2 (PTPRN2) with childhood obesity. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein with sequence similarity to receptor-like protein tyrosine phosphatases. However, tyrosine phosphatase activity has not been experimentally validated for this protein. Studies of the rat ortholog suggest that the encoded protein may instead function as a phosphatidylinositol phosphatase with the ability to dephosphorylate phosphatidylinositol 3-phosphate and phosphatidylinositol 4,5-diphosphate, and this function may be involved in the regulation of insulin secretion. This protein has been identified as an autoantigen in insulin-dependent diabetes mellitus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]., [RefSeq]; While PTPRN2 shares sequence similarity with protein tyrosine phosphatases, this study in rat suggests that this protein instead functions as a membrane bound phosphatidylinositol phosphatase., [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": 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": 2, "reported_glycation": 0, "reported_snv": 50, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "E9PC57;Q8N4I5;Q92662;Q9Y4F8;Q9Y4I6", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.21", "type": "external" }, { "id": "3.1.3.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.18", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.2.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.20", "type": "external" }, { "id": "3.1.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.5", "type": "external" }, { "id": "3.1.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.4.16.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.2", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" }, { "id": "3.6.1.29", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.29", "type": "external" } ], "go_molecular_function": "GO:0005001 transmembrane receptor protein tyrosine phosphatase activity;GO:0004725 protein tyrosine phosphatase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030141 secretory granule;GO:0043235 receptor complex;GO:0045202 synapse;GO:0030667 secretory granule membrane", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0006470 protein dephosphorylation;GO:0007269 neurotransmitter secretion;GO:0051046 regulation of secretion;GO:0035773 insulin secretion involved in cellular response to glucose stimulus", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q92932-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UHG3-1", "uniprot_id": [ { "id": "PCYOX_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UHG3", "type": "external" } ], "mass": 56640.0, "length": 505, "protein_name": "Prenylcysteine oxidase 1", "gene_name": "PCYOX1", "organism": "Human", "refseq_name": "prenylcysteine oxidase 1 precursor", "refseq_ac": [ { "id": "NP_057381", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057381", "type": "external" } ], "gene_names_uniprotkb": "PCYOX1; KIAA0908; PCL1; PRO1183", "gene_names_refseq": "PCL1; PCYOX1", "protein_names_uniprotkb": "Prenylcysteine oxidase 1; 1.8.3.5; Prenylcysteine lyase", "protein_names_refseq": "prenylcysteine lyase; prenylcysteine oxidase 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:51449)", "pathway_count": 1, "publication_count": 62, "publication_id_list": "10.1007/s00018-021-03863-1;10.1101/2023.09.13.557529;10585463;11078725;11237011;12186880;12975309;16335952;19159218;20068231;22544926;23090970;23481700;24190977;25576301;25645385;25892735;26811146;26992070;28904123;28930587;29391424;29493099;29557506;29741879;31154438;31844290;32119511;32157095;32161166;32350084;32357974;32373127;32387766;32488085;32938616;32983136;33043033;33298915;33392160;33537174;33592498;33717175;33912179;33968037;33981976;34089345;34171305;34185709;34509645;34548610;34725712;35051231;35154160;35251023;35269975;35580925;36010968;36284347;37074911;37938771;38665916", "class_list": "", "function": "Elevated prenylcysteine oxidase 1 (PCYOX1) activity could help to propagate the oxidative burden of low density lipoproteins (LDLs), thus making PCYOX1 a potential pharmacological target and a new biomarker in cardiovascular disease [Review]. Publication Status: Online-Only, [RefSeq, PubMed]; Initial studies of the kinetic mechanism and stereospecificity of this unusual enzyme, [RefSeq, PubMed]; Prenylcysteine Oxidase 1 (PCYOX1), a New Player in Thrombosis. Publication Status: Online-Only, [RefSeq, PubMed]; Prenylcysteine is released during the degradation of prenylated proteins. PCYOX1 catalyzes the degradation of prenylcysteine to yield free cysteines and a hydrophobic isoprenoid product (Tschantz et al., 1999 [PubMed 10585463]).[supplied by OMIM, Mar 2008]., [RefSeq]; Prenylcysteine oxidase 1, an emerging player in atherosclerosis. Publication Status: Online-Only, [RefSeq, PubMed]; Prenylcysteine oxidase that cleaves the thioether bond of prenyl-L-cysteines, such as farnesylcysteine and geranylgeranylcysteine (PubMed:10585463, PubMed:11078725, PubMed:12186880). Only active against free prenylcysteines and not prenylcysteine residues within prenylated proteins or peptides (By similarity). Involved in the final step in the degradation of prenylated proteins, by degrading prenylcysteines after the protein has been degraded (PubMed:10585463)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 67, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2RB14;B7Z9P8;O94982;Q8N4N5;Q96QM8", "ec_number_list": [ { "id": "1.8.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.5", "type": "external" } ], "go_molecular_function": "GO:0071949 FAD binding;GO:0001735 prenylcysteine oxidase activity;GO:0102149 farnesylcysteine lyase activity", "go_cellular_component": "GO:0070062 extracellular exosome;GO:0005764 lysosome;GO:0034361 very-low-density lipoprotein particle", "go_biological_process": "GO:0030328 prenylcysteine catabolic process;GO:0030327 prenylated protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 13.5, "record_id": "Q9UHG3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z6J0-1", "uniprot_id": [ { "id": "SH3R1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z6J0", "type": "external" } ], "mass": 93129.0, "length": 888, "protein_name": "E3 ubiquitin-protein ligase SH3RF1", "gene_name": "SH3RF1", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase SH3RF1", "refseq_ac": [ { "id": "NP_065921", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065921", "type": "external" } ], "gene_names_uniprotkb": "SH3RF1; KIAA1494; POSH1; POSH; RNF142; SH3MD2", "gene_names_refseq": "POSH; RNF142; SH3MD2; SH3RF1", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase SH3RF1; 2.3.2.27; Plenty of SH3s; Protein POSH; RING finger protein 142; RING-type E3 ubiquitin transferase SH3RF1; SH3 domain-containing RING finger protein 1; SH3 multiple domains protein 2", "protein_names_refseq": "E3 ubiquitin-protein ligase SH3RF1; RING-type E3 ubiquitin transferase SH3RF1; SH3 domain-containing RING finger protein 1; SH3 multiple domains 2; SH3 multiple domains protein 2; plenty of SH3 domains; plenty of SH3s; putative E3 ubiquitin-protein ligase SH3RF1; ring finger protein 142", "tax_id": 9606, "disease": "retinal degeneration (Disease Ontology:DOID:8466)", "pathway": " (hsa:57630); (R-HSA-9013424); (R-HSA-983168)", "pathway_count": 3, "publication_count": 83, "publication_id_list": "11062501;11237011;11350924;12514131;12646216;14504284;14521508;14734113;15224091;15224092;15571818;15659549;16230351;16571722;16595681;16849449;16954532;17355222;17420289;17535800;18662542;19028597;19352404;19452197;19489725;19651622;19710010;19851334;19874575;19940261;20068231;20696164;22339630;2261476;23186163;23301498;23481700;24366607;26154972;27920218;28129444;28657654;28832583;29057721;29237092;29242379;29557506;30059200;30361695;30429286;30620550;31492838;31844290;31871319;32350084;32387766;32574038;32938750;33129950;33214551;33936100;33968037;34019948;34725712;35051231;35132862;35138101;35254053;35318648;35513511;36215666;36240223;37217939;37541260;38253038;38665916;38838015;39531497;39534244;9380723;9482736;9668046;9778532", "class_list": "", "function": "(Microbial infection) Plays an essential role in the targeting of HIV-1 Gag to the plasma membrane, this function is dependent on its RING domain, and hence its E3 ligase activity., [UniProtKB, PubMed]; A previously undescribed step in HIV biogenesis that suggests a direct function for hPOSH-mediated ubiquitination in protein sorting at the trans-Golgi network., [RefSeq, PubMed]; Assessing the role of SH3RF1 and SH3RF2 polymorphisms in susceptibility to tuberculosis: A case-control study in the Han Chinese population., [RefSeq, PubMed]; Data show that the two N-terminal SH3 domains of SH3 domain containing ring finger 1 (SH3RF1) protein interact with FAT1 protein., [RefSeq, PubMed]; Has E3 ubiquitin-protein ligase activity. In the absence of an external substrate, it can catalyze self-ubiquitination (PubMed:15659549, PubMed:20696164). Stimulates ubiquitination of potassium channel KCNJ1, enhancing its dynamin-dependent and clathrin-independent endocytosis (PubMed:19710010). Acts as a scaffold protein that coordinates with MAPK8IP1/JIP1 in organizing different components of the JNK pathway, including RAC1 or RAC2, MAP3K11/MLK3 or MAP3K7/TAK1, MAP2K7/MKK7, MAPK8/JNK1 and/or MAPK9/JNK2 into a functional multiprotein complex to ensure the effective activation of the JNK signaling pathway. Regulates the differentiation of CD4(+) and CD8(+) T-cells and promotes T-helper 1 (Th1) cell differentiation. Regulates the activation of MAPK8/JNK1 and MAPK9/JNK2 in CD4(+) T-cells and the activation of MAPK8/JNK1 in CD8(+) T-cells. Plays a crucial role in the migration of neocortical neurons in the developing brain. Controls proper cortical neuronal migration and the formation of proximal cytoplasmic dilation in the leading process (PCDLP) in migratory neocortical neurons by regulating the proper localization of activated RAC1 and F-actin assembly (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; POSH disassociates from the JNK complex after phosphorylation of MLK3 by Akt2, which leads to down-regulation of the JNK signaling pathway, [RefSeq, PubMed]; These results show that POSH plays a critical role in the progression of epileptic seizures via N-methyl-D-aspartate receptor trafficking, [RefSeq, PubMed]; This gene encodes a protein containing an N-terminus RING-finger, four SH3 domains, and a region implicated in binding of the Rho GTPase Rac. Via the RING-finger, the encoded protein has been shown to function as an ubiquitin-protein ligase involved in protein sorting at the trans-Golgi network. The encoded protein may also act as a scaffold for the c-Jun N-terminal kinase signaling pathway, facilitating the formation of a functional signaling module. [provided by RefSeq, Jul 2008]., [RefSeq]; This publication pertains to studies in 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": 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": 10, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "Q05BT2;Q8IW46;Q9HAM2;Q9P234", "ec_number_list": [ { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.3.2.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.34", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0005078 MAP-kinase scaffold activity", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0030027 lamellipodium;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:2000564 regulation of CD8-positive, alpha-beta T cell proliferation;GO:0043066 negative regulation of apoptotic process;GO:0046330 positive regulation of JNK cascade;GO:0001764 neuron migration;GO:2001237 negative regulation of extrinsic apoptotic signaling pathway", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "Q7Z6J0-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60844-1", "uniprot_id": [ { "id": "ZG16_HUMAN", "url": "https://www.uniprot.org/uniprot/O60844", "type": "external" } ], "mass": 18133.0, "length": 167, "protein_name": "Zymogen granule membrane protein 16", "gene_name": "ZG16", "organism": "Human", "refseq_name": "zymogen granule membrane protein 16 precursor", "refseq_ac": [ { "id": "NP_689551", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689551", "type": "external" } ], "gene_names_uniprotkb": "ZG16", "gene_names_refseq": "JCLN1; JCLN; ZG16A; ZG16", "protein_names_uniprotkb": "Zymogen granule membrane protein 16; Secretory lectin ZG16; Zymogen granule protein 16; hZG16", "protein_names_refseq": "jacalin-like lectin domain containing; secretory lectin ZG16; zymogen granule membrane protein 16 precursor; zymogen granule membrane protein 16; zymogen granule protein 16 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:653808)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "10493829;14702039;15340161;15489334;15616553;16237761;17307141;21110947;21893569;24790092;25919894;27880730;29661177;32296183;34077620;39261658;7720729", "class_list": "", "function": "Conformational switches and redox properties of the colon cancer-associated human lectin ZG16., [RefSeq, PubMed]; Data show that an upstream regulator of zymogen granule protein 16 (ZG16), miR-196a, which was significantly overexpressed in colorectal cancer (CRC) and promotes cell growth and stemness., [RefSeq, PubMed]; HZG16 was markedly down-regulated in hepatocellular carcinoma (HCC) as indicated by RT-PCR., [RefSeq, PubMed]; May play a role in protein trafficking. May act as a linker molecule between the submembranous matrix on the luminal side of zymogen granule membrane (ZGM) and aggregated secretory proteins during granule formation in the TGN., [UniProtKB, PubMed]; Our study demonstrated that ZG16 expression was sequentially reduced from normal, adenoma, to carcinoma. Association with multiple clinicopathological features indicates that ZG16 may play an important role in cancer initiation and progression. ZG16 may serve as a potential biomarker for diagnosis and prognosis of colorectal cancer Publication Status: Online-Only, [RefSeq, PubMed]; The sugar-binding site and the adjacent basic patch of ZG16p and ZG16b cooperatively form a functional glycosaminoglycan-binding site., [RefSeq, PubMed]; ZG16 enhances the maturation of dendritic cells via induction of CD40 and contributes to the antitumor immunity in pancreatic cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B2R4Z3;B9EK72", "ec_number_list": [], "go_molecular_function": "GO:0042834 peptidoglycan binding;GO:0030246 carbohydrate binding", "go_cellular_component": "GO:0070701 mucus layer;GO:0005615 extracellular space;GO:0005796 Golgi lumen;GO:0042589 zymogen granule membrane", "go_biological_process": "GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "O60844-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00391-1", "uniprot_id": [ { "id": "QSOX1_HUMAN", "url": "https://www.uniprot.org/uniprot/O00391", "type": "external" } ], "mass": 82578.0, "length": 747, "protein_name": "Sulfhydryl oxidase 1", "gene_name": "QSOX1", "organism": "Human", "refseq_name": "sulfhydryl oxidase 1 isoform b precursor", "refseq_ac": [ { "id": "NP_001004128", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004128", "type": "external" } ], "gene_names_uniprotkb": "QSOX1; PRO6013; QSCN6", "gene_names_refseq": "Q6; QSCN6; QSOX1", "protein_names_uniprotkb": "Sulfhydryl oxidase 1; 1.8.3.2; Quiescin Q6; hQSOX", "protein_names_refseq": "quiescin Q6 sulfhydryl oxidase 1; sulfhydryl oxidase 1 isoform b precursor; sulfhydryl oxidase 1; testis tissue sperm-binding protein Li 62n; thiol oxidase 1", "tax_id": 9606, "disease": "VACTERL association (Disease Ontology:DOID:14679)", "pathway": " (hsa:5768); (R-HSA-114608); (R-HSA-381426); (R-HSA-6798695); (R-HSA-8957275)", "pathway_count": 5, "publication_count": 179, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10026136;10077652;10218588;10512690;10614670;10681634;10708601;10810289;10898936;10912521;10951195;10990447;11158056;11237011;11250653;11264294;11316783;11522292;11606061;11739083;11751371;11788658;12176051;12241545;12379487;12466191;12810533;12904166;12975309;1370451;1383255;1435334;14630798;15126567;15297306;15302935;15308688;15469690;15485880;15525596;15642270;16335952;16806532;17047378;17249697;17312271;17331072;17985932;18393449;18507432;19139490;20068231;20211621;21081667;21872626;22299025;22801504;23090970;23481700;23584533;23640497;23650620;23704371;23719902;23867277;24190977;24714562;24715725;2476804;2479552;25502872;25576301;25645385;25892735;26091039;26375851;26791533;26819240;26992070;27726376;27846572;27862975;28467828;28514659;28832583;28904123;29242379;29314611;29391424;29393594;29557506;29671580;29741879;29757379;29769354;29786170;30336636;30367560;30429286;30459171;30573663;30779550;30833945;31020640;31154438;31217245;31222486;31530632;31611695;31844290;31848261;31998317;32125861;32157095;32161166;32350084;32357974;32373127;32387766;32488085;32502341;32863002;32897882;32938616;32983136;33043033;33091337;33298915;33392160;33537174;33592498;33717175;33770521;33936100;33968037;34087483;34171305;34185709;34357683;34433824;34509645;34561969;35051231;35154160;35251023;35580925;36241641;36284347;37074911;37161388;37938771;38036070;38665916;6457647;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7683646;7689487;8467233;8692836;8781553;8817670;8894645;8964575;9497324;9709957;9733769;9786878;9878249;9922210", "class_list": "", "function": "Aberrant m5C hypermethylation mediates intrinsic resistance to gefitinib through NSUN2/YBX1/QSOX1 axis in EGFR-mutant non-small-cell lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the oxidation of sulfhydryl groups in peptide and protein thiols to disulfides with the reduction of oxygen to hydrogen peroxide (PubMed:17331072, PubMed:18393449, PubMed:23704371, PubMed:23867277, PubMed:30367560). Plays a role in disulfide bond formation in a variety of extracellular proteins (PubMed:17331072, PubMed:22801504, PubMed:23867277, PubMed:30367560). In fibroblasts, required for normal incorporation of laminin into the extracellular matrix, and thereby for normal cell-cell adhesion and cell migration (PubMed:23704371, PubMed:23867277, PubMed:30367560)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Mutation of a conserved cis-proline amino acid, analogous to a mutation used to trap substrates of a bacterial disulfide catalyst, has a dramatic effect on the physiological function of the mammalian disulfide catalyst QSOX1., [RefSeq, PubMed]; QSOX1 might be a lung cancer tissue-derived biomarker and be involved in the promotion of lung cancers, and thus can be a therapeutic target for lung cancers. Publication Status: Online-Only, [RefSeq, PubMed]; QSOX1 promotes mitochondrial apoptosis of hepatocellular carcinoma cells during anchorage-independent growth by inhibiting lipid synthesis., [RefSeq, PubMed]; Quiescin sulfhydryl oxidase 1 promotes sorafenib-induced ferroptosis in hepatocellular carcinoma by driving EGFR endosomal trafficking and inhibiting NRF2 activation., [RefSeq, PubMed]; This gene encodes a protein that contains domains of thioredoxin and ERV1, members of two long-standing gene families. The gene expression is induced as fibroblasts begin to exit the proliferative cycle and enter quiescence, suggesting that this gene plays an important role in growth regulation. Two transcript variants encoding two 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": 3, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 31, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 31, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 31, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 5, "reported_mutagensis": 13, "reported_glycation": 0, "reported_snv": 44, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 39, "disease_count": 1, "glyco_site_count": 34, "binding_glycan_count": 0, "secondary_ac_list": "Q59G29;Q5T2X0;Q8TDL6;Q8WVP4", "ec_number_list": [ { "id": "1.8.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.2", "type": "external" }, { "id": "2.7.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.35", "type": "external" }, { "id": "3.4.24.81", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.81", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "1.16.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.1", "type": "external" }, { "id": "1.11.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.9", "type": "external" }, { "id": "1.16.3.4", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.4", "type": "external" }, { "id": "2.3.2.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.13", "type": "external" }, { "id": "3.4.21.46", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.46", "type": "external" }, { "id": "3.4.21.69", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.69", "type": "external" }, { "id": "4.1.2.13", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.13", "type": "external" }, { "id": "3.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.1", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" }, { "id": "3.4.23.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.5", "type": "external" }, { "id": "3.4.21.37", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.37", "type": "external" }, { "id": "2.3.1.16", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.16", "type": "external" }, { "id": "2.3.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.9", "type": "external" }, { "id": "2.3.1.155", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.155", "type": "external" }, { "id": "3.3.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.3.2.6", "type": "external" }, { "id": "3.4.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.4", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.4.24.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.35", "type": "external" }, { "id": "1.4.3.22", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.22", "type": "external" }, { "id": "1.4.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.-", "type": "external" }, { "id": "3.4.24.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.34", "type": "external" }, { "id": "3.4.22.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.27", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.5.4.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.5", "type": "external" }, { "id": "3.4.21.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.4", "type": "external" }, { "id": "5.4.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.2", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "3.1.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.21.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.17", "type": "external" }, { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "3.2.1.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.14", "type": "external" }, { "id": "3.5.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.23", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.109", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.109", "type": "external" }, { "id": "3.4.21.112", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.112", "type": "external" }, { "id": "2.3.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.5", "type": "external" }, { "id": "3.1.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.98", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "1.8.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.5", "type": "external" }, { "id": "1.-.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.-.-.-", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.4.19.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.9", "type": "external" }, { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" }, { "id": "3.2.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.18", "type": "external" }, { "id": "3.2.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.51", "type": "external" }, { "id": "2.1.1.348", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.348", "type": "external" }, { "id": "2.1.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.9", "type": "external" }, { "id": "3.5.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.3", "type": "external" }, { "id": "3.4.18.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.18.1", "type": "external" }, { "id": "2.4.1.145", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.145", "type": "external" }, { "id": "3.2.1.166", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.166", "type": "external" } ], "go_molecular_function": "GO:0071949 FAD binding;GO:0016971 flavin-dependent sulfhydryl oxidase activity;GO:0003756 protein disulfide isomerase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0085029 extracellular matrix assembly;GO:0006457 protein folding;GO:0016242 negative regulation of macroautophagy", "synthesized_glycan_count": 0, "hit_score": 25.4, "record_id": "O00391-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y4Z2-1", "uniprot_id": [ { "id": "NGN3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y4Z2", "type": "external" } ], "mass": 23077.0, "length": 214, "protein_name": "Neurogenin-3", "gene_name": "NEUROG3", "organism": "Human", "refseq_name": "neurogenin-3", "refseq_ac": [ { "id": "NP_066279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066279", "type": "external" } ], "gene_names_uniprotkb": "NEUROG3; ATOH5; BHLHA7; NGN3", "gene_names_refseq": "Atoh5; Math4B; NEUROG3; NGN-3; bHLHa7; ngn3", "protein_names_uniprotkb": "Neurogenin-3; Class A basic helix-loop-helix protein 7; NGN-3; Protein atonal homolog 5; bHLHa7", "protein_names_refseq": "class A basic helix-loop-helix protein 7; neurogenin-3; protein atonal homolog 5", "tax_id": 9606, "disease": "congenital malabsorptive diarrhea 4 (Disease Ontology:DOID:0060779); glucose intolerance (Disease Ontology:DOID:10603); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:50674); (R-HSA-210744); (R-HSA-210746)", "pathway_count": 3, "publication_count": 16, "publication_id_list": "11206403;11270683;12403815;16511571;16855267;21378176;21490072;25120094;28441528;28724572;32574610;34550497;34566896;36149814;37117185;37168762", "class_list": "", "function": "Gene Signatures of NEUROGENIN3+ Endocrine Progenitor Cells in the Human Pancreas. Publication Status: Online-Only, [RefSeq, PubMed]; Is a transcriptional regulator involved in the control of enteroendocrine cell differentiation (PubMed:21378176). Together with NKX2-2, initiates transcriptional activation of NEUROD1 (PubMed:16855267, PubMed:21378176). Involved in neurogenesis. Also required for the specification of a common precursor of the 4 pancreatic endocrine cell types (By similarity)., [UniProtKB, UniProtKB, PubMed]; Novel Variants and Phenotypes in NEUROG3-Associated Syndrome., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Protein Production and Purification of a Codon-Optimized Human NGN3 Transcription Factor from E. coli., [RefSeq, PubMed]; The protein encoded by this gene is a basic helix-loop-helix (bHLH) transcription factor involved in neurogenesis. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects in this gene are a cause of congenital malabsorptive diarrhea 4 (DIAR4).[provided by RefSeq, May 2010]., [RefSeq]; USP7 controls NGN3 stability and pancreatic endocrine lineage development. 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": 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": "Q5VVI0;Q6DJX6;Q9BY24", "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:0031490 chromatin DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0007399 nervous system development;GO:0021510 spinal cord development;GO:0030900 forebrain development", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q9Y4Z2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15084-1", "uniprot_id": [ { "id": "PDIA6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15084", "type": "external" } ], "mass": 48121.0, "length": 440, "protein_name": "Protein disulfide-isomerase A6", "gene_name": "PDIA6", "organism": "Human", "refseq_name": "protein disulfide-isomerase A6 isoform a", "refseq_ac": [ { "id": "NP_001269633", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269633", "type": "external" } ], "gene_names_uniprotkb": "PDIA6; ERP5; P5; TXNDC7", "gene_names_refseq": "ERP5; P5; PDIA6; TXNDC7", "protein_names_uniprotkb": "Protein disulfide-isomerase A6; 5.3.4.1; ER protein 5; ERp5; Endoplasmic reticulum protein 5; Protein disulfide isomerase P5; Thioredoxin domain-containing protein 7", "protein_names_refseq": "ER protein 5; endoplasmic reticulum protein 5; epididymis secretory sperm binding protein; protein disulfide isomerase P5; protein disulfide isomerase-associated 6; protein disulfide isomerase-related protein; protein disulfide-isomerase A6 isoform a; protein disulfide-isomerase A6; thioredoxin domain containing 7 (protein disulfide isomerase); thioredoxin domain-containing protein 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:10130); (R-HSA-381038); (R-HSA-381426); (R-HSA-8957275)", "pathway_count": 4, "publication_count": 200, "publication_id_list": "10026136;10077652;10218588;10512690;10601334;10614670;10681634;10810289;10827079;10898936;10912521;10951195;10990447;11158056;11237011;11250653;11264294;11316783;11522292;11606061;11739083;11751371;11788658;12204115;12241545;12379487;12466191;12475965;12643545;12810533;12904166;1370451;1383255;15126567;15302935;15308688;15466936;15469690;15485880;15525596;15642270;16461360;16539657;16964243;17047378;17081065;17081983;17249697;17312271;17495932;17985932;18212344;18318008;18452278;18664523;18669648;18707149;19413330;19651622;19690332;19892738;20058876;20068231;20166139;21282569;21406692;21654843;22121020;22299025;23186163;23576270;23739916;24275569;24366607;24508390;2476804;2479552;25418920;25502872;25576301;25880248;26091039;26154972;26375851;26811146;26853435;27090790;27397612;27452731;27543614;27600516;27846572;27862975;27893789;27920218;28228285;28467828;28514659;28832583;28871256;28904123;29242379;29314611;29317506;29331515;29508533;29557506;29632711;29769354;29786170;29789417;30192525;30429286;30444036;30524438;30573663;30626607;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32870666;32897882;32938616;32983136;33043033;33091337;33141586;33214551;33298915;33392160;33592498;33936100;33968037;34019948;34087483;34171305;34357683;34433824;34509645;34561969;34725712;34932366;35051231;35083852;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36244946;36284347;37217939;37938771;38097564;38441855;38665916;39044457;40914422;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7590364;7683646;7689487;8666242;8781553;8817670;8894645;8964575;9037597;9450183;9473480;9497324;9709957;9733769;9786878;9922210", "class_list": "", "function": "Downregulated miR-181a alleviates H2O2-induced oxidative stress and cellular senescence by targeting PDIA6 in human foreskin fibroblasts., [RefSeq, PubMed]; Increased ER stress by depletion of PDIA6 impairs primary ciliogenesis and enhances sensitivity to ferroptosis in kidney cells., [RefSeq, PubMed]; May function as a chaperone that inhibits aggregation of misfolded proteins (PubMed:12204115). Negatively regulates the unfolded protein response (UPR) through binding to UPR sensors such as ERN1, which in turn inactivates ERN1 signaling (PubMed:24508390). May also regulate the UPR via the EIF2AK3 UPR sensor (PubMed:24508390). Plays a role in platelet aggregation and activation by agonists such as convulxin, collagen and thrombin (PubMed:15466936)., [UniProtKB, PubMed, PubMed, PubMed]; Observed to have peptide-binding ability, and chaperone activity was confirmed with rhodanese and citrate synthase as substrates, but not with D-glyceraldehyde-3-phosphate dehydrogenase, showing substrate specificity with respect to chaperone activity, [RefSeq, PubMed]; PDIA6, which is regulated by TRPM2-AS/miR-424-5p axis, promotes endometrial cancer progression via TGF-beta pathway. Publication Status: Online-Only, [RefSeq, PubMed]; The SOX2/PDIA6 axis mediates aerobic glycolysis to promote stemness in non-small cell lung cancer cells., [RefSeq, PubMed]; This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, two catalytically active thioredoxin (TRX) domains, a TRX-like domain, and a C-terminal ER-retention sequence. This protein inhibits the aggregation of misfolded proteins and exhibits both isomerase and chaperone activity. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 6, "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": "B3KY95;B5MCQ5;B7Z254;B7Z4M8;F8WA83;Q53RC7;Q6ZSH5;Q99778", "ec_number_list": [ { "id": "1.8.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.2", "type": "external" }, { "id": "3.4.24.81", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.81", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "1.16.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.1", "type": "external" }, { "id": "1.11.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.9", "type": "external" }, { "id": "1.16.3.4", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.4", "type": "external" }, { "id": "3.4.21.69", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.69", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.4.21.112", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.112", "type": "external" }, { "id": "3.1.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.98", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" }, { "id": "3.2.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.51", "type": "external" }, { "id": "2.4.1.145", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.145", "type": "external" } ], "go_molecular_function": "GO:0015035 protein-disulfide reductase activity;GO:0003756 protein disulfide isomerase activity", "go_cellular_component": "GO:0034663 endoplasmic reticulum chaperone complex;GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0005886 plasma membrane", "go_biological_process": "GO:0006457 protein folding;GO:0034976 response to endoplasmic reticulum stress", "synthesized_glycan_count": 0, "hit_score": 20.3, "record_id": "Q15084-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6PHW0-1", "uniprot_id": [ { "id": "IYD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6PHW0", "type": "external" } ], "mass": 33360.0, "length": 289, "protein_name": "Iodotyrosine deiodinase 1", "gene_name": "IYD", "organism": "Human", "refseq_name": "iodotyrosine deiodinase 1 isoform 1", "refseq_ac": [ { "id": "NP_001158166", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158166", "type": "external" } ], "gene_names_uniprotkb": "IYD; C6orf71; DEHAL1", "gene_names_refseq": "C6orf71; DEHAL1; IYD-1; IYD; TDH4", "protein_names_uniprotkb": "Iodotyrosine deiodinase 1; 1.21.1.1; IYD-1; Iodotyrosine dehalogenase 1", "protein_names_refseq": "iodotyrosine dehalogenase 1; iodotyrosine deiodinase 1 isoform 1; iodotyrosine deiodinase 1", "tax_id": 9606, "disease": "thyroid dyshormonogenesis 4 (Disease Ontology:DOID:0112188)", "pathway": " (hsa:389434); (R-HSA-209968)", "pathway_count": 2, "publication_count": 20, "publication_id_list": "11237011;11514595;15289438;15561711;15972824;16651268;16910871;1722671;17322488;18434651;19144650;25395621;26151430;28157283;30052294;30379171;35494241;36633921;67547;8806637", "class_list": "", "function": "Catalyzes the dehalogenation of halotyrosines such as 3-bromo-L-tyrosine, 3-chloro-L-tyrosine, 3-iodo-L-tyrosine and 3,5-diiodo-L-tyrosine (PubMed:15289438, PubMed:18434651, PubMed:25395621, PubMed:28157283). During thyroid hormone biosynthesis, facilitates iodide salvage by catalysing the oxidative NADPH-dependent deiodination of the halogenated by-products of thyroid hormone production, monoiodotyrosine (L-MIT) and diiodotyrosine (L-DIT) (PubMed:15289438, PubMed:18434651). The scavanged iodide can then reenter the hormone-producing pathways (PubMed:15289438, PubMed:18434651). Acts more efficiently on 3-iodo-L-tyrosine than 3,5-diiodo-L-tyrosine (PubMed:15289438)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Congenital Hypothyroidism in Two Sudanese Families Harboring a Novel Iodotyrosine Deiodinase Mutation (IYD R279C)., [RefSeq, PubMed]; Diffuse cytoplasmatic localisation or downregulation of DEHAL1 expression in thyroid cancers suggests alteration or loss of DEHAL1 function during thyroid cell dedifferentiation., [RefSeq, PubMed]; Molecular cloning and investigation of the localization and activity of DEHAL1, [RefSeq, PubMed]; Redox control of iodotyrosine deiodinase., [RefSeq, PubMed]; The cytoplasmic tail of DEHAL1 could play a role in the stability of the protein, [RefSeq, PubMed]; The rate-limiting processes that contribute to the ability of flavin to promote reductive dehalogenation in human IYD., [RefSeq, PubMed]; This gene encodes an enzyme that catalyzes the oxidative NADPH-dependent deiodination of mono- and diiodotyrosine, which are the halogenated byproducts of thyroid hormone production. The N-terminus of the protein functions as a membrane anchor. Mutations in this gene cause congenital hypothyroidism due to dyshormonogenesis type 4, which is also referred to as deiodinase deficiency, or iodotyrosine dehalogenase deficiency, or thyroid hormonogenesis type 4. Alternative splicing results in multiple transcript variants. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 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": "C9JFW2;Q2VPW0;Q2VPW1;Q5F1L5;Q5F1L6;Q5THM4;Q6ZP69;Q7Z7D7;Q7Z7D8", "ec_number_list": [ { "id": "1.21.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.21.1.1", "type": "external" } ], "go_molecular_function": "GO:0016491 oxidoreductase activity;GO:0010181 FMN binding;GO:0140616 iodotyrosine deiodinase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030659 cytoplasmic vesicle membrane", "go_biological_process": "GO:0042403 thyroid hormone metabolic process;GO:0006570 tyrosine metabolic process", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q6PHW0-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96EY7-1", "uniprot_id": [ { "id": "PTCD3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96EY7", "type": "external" } ], "mass": 78550.0, "length": 689, "protein_name": "Small ribosomal subunit protein mS39", "gene_name": "PTCD3", "organism": "Human", "refseq_name": "small ribosomal subunit protein mS39 precursor", "refseq_ac": [ { "id": "NP_060422", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060422", "type": "external" } ], "gene_names_uniprotkb": "PTCD3; MRPS39; TRG15", "gene_names_refseq": "COXPD51; MRP-S39; PTCD3; mS39", "protein_names_uniprotkb": "Small ribosomal subunit protein mS39; 28S ribosomal protein S39, mitochondrial; MRP-S39; Pentatricopeptide repeat domain-containing protein 3, mitochondrial; TRG-15; Transformation-related gene 15 protein", "protein_names_refseq": "28S ribosomal protein S39, mitochondrial; TRG-15; mitochondrial small ribosomal subunit protein mS39; pentatricopeptide repeat domain-containing protein 3, mitochondrial; pentatricopeptide repeat-containing protein 3, mitochondrial; small ribosomal subunit protein mS39 precursor; transformation-related gene 15 protein", "tax_id": 9606, "disease": "combined oxidative phosphorylation deficiency 51 (Disease Ontology:DOID:0112137)", "pathway": " (hsa:55037); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 87, "publication_id_list": "11237011;15358359;17803939;18429816;18782833;19427859;19524667;19608861;19716793;19913121;20068231;20186120;20628086;21907147;22172991;2250005;23481700;23908630;24714562;24715725;25233460;25418920;25645385;25838379;26154972;26728094;26758079;26992070;27029019;27846572;27920218;28063628;28218747;28228285;28510447;28514659;28649982;28832583;28834231;28892042;28904123;29242379;29437277;29493099;29557506;29632046;29632711;29786170;30315122;30410026;30429286;30607703;30779550;31217245;31844290;31848261;32157095;32350084;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33243891;33465208;33592498;33633747;33691108;33878294;33912179;33936100;33968037;34171305;34357683;34509645;34561969;35051231;35580925;36010968;36302763;36450274;36596788;37141370;40596516;40914422", "class_list": "", "function": "Leigh syndrome is the main clinical characteristic of PTCD3 deficiency., [RefSeq, PubMed]; Lowering PTCD3 in 143B osteosarcoma cells decreased mitochondrial protein synthesis, mitochondrial respiration and the activity of Complexes III and IV, suggesting that PTCD3 has a role in mitochondrial translation GeneRIF: PTCD3 associates with the small subunit of the mitochondrial ribosome and is required for efficient translation., [RefSeq, PubMed]; Mitochondrial RNA-binding protein that has a role in mitochondrial translation., [UniProtKB, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Sanger sequencing of gDNA from the affected individual and unaffected family members confirming the PTCD3 variants, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 21, "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": "A6NHD2;D6W5M1;Q597H0;Q658Y9;Q9BUZ8;Q9NWL0", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0043024 ribosomal small subunit binding;GO:0019843 rRNA binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix;GO:0005840 ribosome;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0006417 regulation of translation;GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "Q96EY7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14123-1", "uniprot_id": [ { "id": "PDE1C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14123", "type": "external" } ], "mass": 80760.0, "length": 709, "protein_name": "Dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C", "gene_name": "PDE1C", "organism": "Human", "refseq_name": "dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 3", "refseq_ac": [ { "id": "NP_001177987", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177987", "type": "external" } ], "gene_names_uniprotkb": "PDE1C", "gene_names_refseq": "DFNA74; Hcam3; PDE1C; cam-PDE 1C; hCam-3", "protein_names_uniprotkb": "Dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C; 3.1.4.17; Cam-PDE 1C; Hcam3", "protein_names_refseq": "3',5'-cyclic-AMP phosphodiesterase; 3',5'-cyclic-GMP phosphodiesterase; Human 3',5' cyclic nucleotide phosphodiesterase (HSPDE1C1A); calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C; dual specificity Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C; dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C isoform 3; phosphodiesterase 1C, calmodulin-dependent 70kDa", "tax_id": 9606, "disease": "autosomal dominant nonsyndromic deafness 74 (Disease Ontology:DOID:0112165)", "pathway": " (hsa:5137); (R-HSA-111957)", "pathway_count": 2, "publication_count": 28, "publication_id_list": "11237011;15272012;17726023;18335582;25576301;25608528;25620587;25645385;28649982;29242379;29557506;29860631;31217245;31844290;32157095;32357974;32938616;33592498;33789162;33968037;33981976;34171305;34312235;35051231;35580925;36010968;37217939;8557689", "class_list": "", "function": "By combining population-specific mutation arrays, targeted deafness genes panel, whole exome sequencing (WES), we identified PDE1C (Phosphodiesterase 1C) c.958G>T (p.A320S) as the disease-associated variant. Structural modeling insights into p.A320S strongly suggest that the sequence alteration will likely affect the substrate-binding pocket of PDE1C., [RefSeq, PubMed]; Calmodulin-dependent cyclic nucleotide phosphodiesterase with a dual specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes (PubMed:29860631, PubMed:8557689). Has a high affinity for both cAMP and cGMP (PubMed:8557689). Modulates the amplitude and duration of the cAMP signal in sensory cilia in response to odorant stimulation, hence contributing to the generation of action potentials. Regulates smooth muscle cell proliferation. Regulates the stability of growth factor receptors, including PDGFRB (Probable). In kidney juxtaglomerular granular cells, inhibits renin release by decreasing cAMP levels (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]; Cyclic nucleotide phosphodiesterase 1C contributes to abdominal aortic aneurysm., [RefSeq, PubMed]; PDE1C is a proliferation-associated gene in glioblastoma multiforme cells in vitro., [RefSeq, PubMed]; PDE1C is an important regulator of SMC proliferation, migration, and neointimal hyperplasia, in part through modulating endosome/lysosome-dependent PDGFRbeta protein degradation via low-density lipoprotein receptor-related protein-1., [RefSeq, PubMed]; Phosphodiesterase 1C integrates store-operated calcium entry and cAMP signaling in leading-edge protrusions of migrating human arterial myocytes., [RefSeq, PubMed]; This gene encodes an enzyme that belongs to the 3'5'-cyclic nucleotide phosphodiesterase family. Members of this family catalyze hydrolysis of the cyclic nucleotides, cyclic adenosine monophosphate and cyclic guanosine monophosphate, to the corresponding nucleoside 5'-monophosphates. The enzyme encoded by this gene regulates proliferation and migration of vascular smooth muscle cells, and neointimal hyperplasia. This enzyme also plays a role in pathological vascular remodeling by regulating the stability of growth factor receptors, such as PDGF-receptor-beta. [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": 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": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KPC6;E9PE92;Q14124;Q8NB10", "ec_number_list": [ { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.1.4.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.17", "type": "external" }, { "id": "3.1.4.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.53", "type": "external" }, { "id": "3.1.4.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.35", "type": "external" }, { "id": "3.1.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.1", "type": "external" }, { "id": "3.6.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.9", "type": "external" }, { "id": "3.6.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.25", "type": "external" }, { "id": "3.6.1.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.14", "type": "external" } ], "go_molecular_function": "GO:0005516 calmodulin binding;GO:0046872 metal ion binding;GO:0047555 3',5'-cyclic-GMP phosphodiesterase activity;GO:0004115 3',5'-cyclic-AMP phosphodiesterase activity;GO:0004117 calmodulin-activated dual specificity 3',5'-cyclic-GMP, 3',5'-cyclic-AMP phosphodiesterase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0043025 neuronal cell body;GO:0005764 lysosome", "go_biological_process": "GO:0007165 signal transduction;GO:0141162 negative regulation of cAMP/PKA signal transduction", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q14123-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P57721-1", "uniprot_id": [ { "id": "PCBP3_HUMAN", "url": "https://www.uniprot.org/uniprot/P57721", "type": "external" } ], "mass": 39465.0, "length": 371, "protein_name": "Poly(rC)-binding protein 3", "gene_name": "PCBP3", "organism": "Human", "refseq_name": "poly(rC)-binding protein 3 isoform 2", "refseq_ac": [ { "id": "NP_001123613", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123613", "type": "external" } ], "gene_names_uniprotkb": "PCBP3; PCBP3-OT1; PCBP3OT", "gene_names_refseq": "ALPHA-CP3; PCBP3-OT1; PCBP3OT; PCBP3", "protein_names_uniprotkb": "Poly(rC)-binding protein 3; Alpha-CP3; PCBP3-overlapping transcript 1; PCBP3-overlapping transcript", "protein_names_refseq": "PCBP3 overlapping transcript 1; PCBP3-overlapping transcript; poly(rC) binding protein 3 overlapping transcript; poly(rC)-binding protein 3 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:54039)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "10936052;11237011;14612387;19914360;20068231;24366607;26154972;28904123;29557506;30275197;31217245;31844290;32157095;32350084;32357974;32387766;32488085;32983136;33298915;33592498;33968037;34019948;34087483;35051231;35561310;35580925;35920801;36215666;36241641;36284347;38665916;39990658", "class_list": "", "function": "LncRNA A2M-AS1 Promotes Ferroptosis in Pancreatic Cancer via Interacting With PCBP3., [RefSeq, PubMed]; Low PCBP3 expression is associated with Pancreatic ductal adenocarcinoma., [RefSeq, PubMed]; Single-stranded nucleic acid binding protein that binds preferentially to oligo dC., [UniProtKB]; Study examined splicing factors located on chromosome 21 for their effect on tau exon 10 and discovered that one of them, hnRNPE3 (PCBP3), modestly activates splicing of exon 10 by interacting with its proximal downstream intron around position +19., [RefSeq, PubMed]; This gene encodes a member of the KH-domain protein subfamily. Proteins of this subfamily, also referred to as alpha-CPs, bind to RNA with a specificity for C-rich pyrimidine regions. Alpha-CPs play important roles in post-transcriptional activities and have different cellular distributions. The protein encoded by this gene lacks the nuclear localization signals found in other subfamily members. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8MPS2;A8MQ26;B7WNN9;B7WPC1;Q8N9K6;Q96EP6", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:1990829 C-rich single-stranded DNA binding;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0016071 mRNA metabolic process;GO:0006357 regulation of transcription by RNA polymerase II;GO:0039694 viral RNA genome replication", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "P57721-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y543-1", "uniprot_id": [ { "id": "HES2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y543", "type": "external" } ], "mass": 18470.0, "length": 173, "protein_name": "Transcription factor HES-2", "gene_name": "HES2", "organism": "Human", "refseq_name": "transcription factor HES-2", "refseq_ac": [ { "id": "NP_061962", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061962", "type": "external" } ], "gene_names_uniprotkb": "HES2; BHLHB40", "gene_names_refseq": "HES2; bHLHb40", "protein_names_uniprotkb": "Transcription factor HES-2; Class B basic helix-loop-helix protein 40; Hairy and enhancer of split 2; bHLHb40", "protein_names_refseq": "class B basic helix-loop-helix protein 40; hairy and enhancer of split 2; transcription factor HES-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:54626)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;15254753;27846572;29493099;35051231", "class_list": "", "function": "Transcriptional repressor of genes that require a bHLH protein for their transcription., [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": "A2RTZ9;Q96EN4;Q9Y542", "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:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0009952 anterior/posterior pattern specification;GO:0050767 regulation of neurogenesis", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q9Y543-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z3G6-1", "uniprot_id": [ { "id": "PRIC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z3G6", "type": "external" } ], "mass": 95615.0, "length": 844, "protein_name": "Prickle-like protein 2", "gene_name": "PRICKLE2", "organism": "Human", "refseq_name": "prickle-like protein 2", "refseq_ac": [ { "id": "NP_942559", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_942559", "type": "external" } ], "gene_names_uniprotkb": "PRICKLE2", "gene_names_refseq": "EPM5; PRICKLE2", "protein_names_uniprotkb": "Prickle-like protein 2", "protein_names_refseq": "prickle homolog 2; prickle-like protein 2", "tax_id": 9606, "disease": "epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:166336)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "11237011;12525887;17411337;21276947;22037766;23711981;24715725;26154972;26942291;26942292;28832583;29242379;29508533;29557506;29632046;29741879;30379171;30833945;31154438;31844290;31848261;32157095;32938616;33592498;33968037;34087483;34092786;35051231;36010968", "class_list": "", "function": "2 autism-spectrum-disorder patients had distinct, paternally inherited, heterozygous, non-synonymous PRICKLE2 variants (p.E8Q and p.V153I) shared by their affected siblings. These variants had deficits in morphological and electrophysiological assays. Erratum:[Mol Psychiatry. 2014 Jun;19(6):742. Manak, R J [corrected to Manak, J R]], [RefSeq, PubMed]; Is involved in the organization and maintenance of axon initial segment (AIS) architecture, likely cooperating with IGSF9B to regulate ANK3/ANKG localization to AIS (By similarity). By binding to and regulating ANK3/ANKG, it modulates its ability to bundle microtubules, a crucial mechanism for establishing neuronal polarity and AIS formation (By similarity). During early embryonic development, has a role in blastocyst formation, likely controlling the redistribution of the microtubule network during embryo compaction and the establishment of apical/basal cell polarity (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; MINK1 interacts with and phosphorylates PRICKLE1 and PRICKLE2., [RefSeq, PubMed]; PRICKLE1 and PRICKLE2 mRNAs were expressed together in brain, eye and testis., [RefSeq, PubMed]; PRICKLE2 revisited-further evidence implicating PRICKLE2 in neurodevelopmental disorders., [RefSeq, PubMed]; This gene encodes a homolog of Drosophila prickle. The exact function of this gene is not known, however, studies in mice suggest that it may be involved in seizure prevention. Mutations in this gene are associated with progressive myoclonic epilepsy type 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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "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": "Q0VF44", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0014069 postsynaptic density;GO:0030424 axon;GO:0030425 dendrite", "go_biological_process": "GO:0099612 protein localization to axon;GO:0060071 Wnt signaling pathway, planar cell polarity pathway;GO:0001825 blastocyst formation", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q7Z3G6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IU57-1", "uniprot_id": [ { "id": "INLR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IU57", "type": "external" } ], "mass": 57653.0, "length": 520, "protein_name": "Interferon lambda receptor 1", "gene_name": "IFNLR1", "organism": "Human", "refseq_name": "interferon lambda receptor 1 isoform 1 precursor", "refseq_ac": [ { "id": "NP_734464", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_734464", "type": "external" } ], "gene_names_uniprotkb": "IFNLR1; IL28RA; LICR2", "gene_names_refseq": "CRF2/12; IFNLR1; IFNLR; IL-28R1; IL28RA; LICR2", "protein_names_uniprotkb": "Interferon lambda receptor 1; CRF2-12; Cytokine receptor class-II member 12; Cytokine receptor family 2 member 12; IFN-lambda receptor 1; IFN-lambda-R1; IL-28 receptor subunit alpha; IL-28R-alpha; IL-28RA; Interleukin-28 receptor subunit alpha; LICR2; Likely interleukin or cytokine receptor 2", "protein_names_refseq": "CRF2-12; IFN-lambda receptor 1; IFN-lambda-R1; IL-28 receptor subunit alpha; IL-28R-alpha; IL-28RA; class II cytokine receptor CRF2/12; cytokine receptor class-II member 12; cytokine receptor family 2 member 12; interferon lambda receptor 1 isoform 1 precursor; interleukin 28 alpha receptor; interleukin 28 receptor A; interleukin 28 receptor, alpha (interferon, lambda receptor); interleukin or cytokine receptor 2; interleukin-28 receptor subunit alpha; likely interleukin or cytokine receptor 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:163702); (R-HSA-449836); (R-HSA-8854691)", "pathway_count": 3, "publication_count": 71, "publication_id_list": "10395686;10438516;10875937;11163236;11196675;11237011;11390453;11390454;11481447;11564763;11706020;12087100;12351624;12469119;12483210;12521379;12558796;14580208;14764663;15120653;15166220;15178681;15919823;16488976;16492764;1662392;16750817;16982608;17878297;18467591;18599299;18669613;18830264;18941194;19457860;19535621;20462497;20671117;20934432;20966397;21098725;2147944;21716315;22802649;22962576;23291588;23744080;24715725;25004819;25662098;26095744;27133025;28228285;28458652;31844290;32157095;32488085;33269531;33751344;33912179;34195850;35494241;36379255;36992341;38070830;7512451;7543512;7615501;7805849;8830676;9422780", "class_list": "", "function": "Association of TNFRSF1A and IFNLR1 Gene Polymorphisms with the Risk of Developing Breast Cancer and Clinical Pathologic Features., [RefSeq, PubMed]; Distinct receptor complex that is utilized by all three IFN-lambda proteins for signaling and is composed of two subunits, a receptor designated CRF2-12 (also designated as IFN-lambdaR1) and a second subunit, CRF2-4 (also known as IL-10R2), [RefSeq, PubMed]; Downregulated expression of IL28RA is involved in the pathogenesis of pancreatic ductal adenocarcinoma., [RefSeq, PubMed]; IL-28 and IL-29 interact with a heterodimeric class II cytokine receptor that consisted of IL-10 receptor beta (IL-10Rbeta) and an orphan class II receptor chain, designated IL-28Ralpha., [RefSeq, PubMed]; Influence of Canonical and Non-Canonical IFNLR1 Isoform Expression on Interferon Lambda Signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Interferon III-related IL28RA variant is associated with rheumatoid arthritis and systemic lupus erythematosus and specific disease sub-phenotypes., [RefSeq, PubMed]; Interferon lambda receptor-1 isoforms differentially influence gene expression and HBV replication in stem cell-derived hepatocytes., [RefSeq, PubMed]; Interleukin (IL)-28 receptor tyrosine residues have roles in antiviral and antiproliferative activity of IL-29/interferon-lambda 1, [RefSeq, PubMed]; The IFNLR1/IL10RB dimer is a receptor for the cytokine ligands IFNL2 and IFNL3 and mediates their antiviral activity. The ligand/receptor complex stimulate the activation of the JAK/STAT signaling pathway leading to the expression of IFN-stimulated genes (ISG), which contribute to the antiviral state. Determines the cell type specificity of the lambda interferon action. Shows a more restricted pattern of expression in the epithelial tissues thereby limiting responses to lambda interferons primarily to epithelial cells of the respiratory, gastrointestinal, and reproductive tracts. Seems not to be essential for early virus-activated host defense in vaginal infection, but plays an important role in Toll-like receptor (TLR)-induced antiviral defense. Plays a significant role in the antiviral immune defense in the intestinal epithelium., [UniProtKB, PubMed, PubMed, PubMed]; The protein encoded by this gene belongs to the class II cytokine receptor family. This protein forms a receptor complex with interleukine 10 receptor, beta (IL10RB). The receptor complex has been shown to interact with three closely related cytokines, including interleukin 28A (IL28A), interleukin 28B (IL28B), and interleukin 29 (IL29). The expression of all three cytokines can be induced by viral infection. The cells overexpressing this protein have been found to have enhanced responses to IL28A and IL29, but decreased response to IL28B. Three alternatively spliced transcript variants encoding distinct isoforms have been reported. [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": 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": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 19, "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": "Q5VTX5;Q5VTX7;Q5VTX8;Q6ZML8;Q8IV66;Q8IZI7;Q8IZI8", "ec_number_list": [], "go_molecular_function": "GO:0004896 cytokine receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0032002 interleukin-28 receptor complex", "go_biological_process": "GO:0050691 regulation of defense response to virus by host;GO:0008285 negative regulation of cell population proliferation;GO:0051607 defense response to virus;GO:0098586 cellular response to virus;GO:0019221 cytokine-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q8IU57-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q76G19-1", "uniprot_id": [ { "id": "PDZD4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q76G19", "type": "external" } ], "mass": 86171.0, "length": 769, "protein_name": "PDZ domain-containing protein 4", "gene_name": "PDZD4", "organism": "Human", "refseq_name": "PDZ domain-containing protein 4 isoform 1", "refseq_ac": [ { "id": "NP_001290441", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290441", "type": "external" } ], "gene_names_uniprotkb": "PDZD4; KIAA1444; PDZK4; PDZRN4L", "gene_names_refseq": "LNX5; LU1; PDZD4; PDZK4; PDZRN4L", "protein_names_uniprotkb": "PDZ domain-containing protein 4; PDZ domain-containing RING finger protein 4-like protein", "protein_names_refseq": "PDZ domain-containing RING finger protein 4-like protein; PDZ domain-containing protein 4 isoform 1; PDZ domain-containing protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:57595)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "15077175;15138636;16959974;19664994;21406692;24714562;29789417;32157095;35494241;35580925", "class_list": "", "function": "Might play an important role in the proliferation of SS cells and might be a suitable target for SS drugs., [RefSeq, PubMed]; PDZRN4L showed 49.9% total-amino-acid identity with PDZRN4 short isoform (PDZRN4S). PDZ, PR34H1 and PR34H2 domains were conserved between PDZRN4L and PDZRN4S., [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": 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": "B3KXB1;B7ZKY3;Q8NB75;Q9BUH9;Q9P284", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005938 cell cortex", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q76G19-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5N1-1", "uniprot_id": [ { "id": "HRH3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5N1", "type": "external" } ], "mass": 48671.0, "length": 445, "protein_name": "Histamine H3 receptor", "gene_name": "HRH3", "organism": "Human", "refseq_name": "histamine H3 receptor", "refseq_ac": [ { "id": "NP_009163", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009163", "type": "external" } ], "gene_names_uniprotkb": "HRH3; GPCR97", "gene_names_refseq": "GPCR97; HH3R; HRH3", "protein_names_uniprotkb": "Histamine H3 receptor; G protein-coupled receptor 97; H3R; HH3R", "protein_names_refseq": "G protein-coupled receptor 97; H3R; histamine H3 receptor", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763); gastric ulcer (Disease Ontology:DOID:10808); amnestic disorder (Disease Ontology:DOID:10914); sciatic neuropathy (Disease Ontology:DOID:11446); status epilepticus (Disease Ontology:DOID:1824); hyperglycemia (Disease Ontology:DOID:4195); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:11255); (R-HSA-390650)", "pathway_count": 2, "publication_count": 21, "publication_id_list": "10347254;10633171;11118334;11237011;11284713;11956964;12069903;17005916;1714721;18157166;21036230;2155607;22299025;23481700;2553705;33063610;36091066;37752220;4401751;6120235;8280179", "class_list": "", "function": "Histamine H3 receptor gene variants associated with drug abuse in patients with cocaine use disorder., [RefSeq, PubMed]; Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by histamine receptors H1, H2, H3 and H4. This gene encodes one of the histamine receptors (H3) which belongs to the family 1 of G protein-coupled receptors. It is an integral membrane protein and can regulate neurotransmitter release. This receptor can also increase voltage-dependent calcium current in smooth muscles and innervates the blood vessels and the heart in cardiovascular system. [provided by RefSeq, Jul 2008]., [RefSeq]; Molecular cloning of functionally distinct isoforms of the human histamine H(3) receptor, [RefSeq, PubMed]; Recovery of the histamine H3 receptor activity lost in yeast cells through error-prone PCR and in vivo selection. Publication Status: Online-Only, [RefSeq, PubMed]; The H3 subclass of histamine receptors could mediate the histamine signals in CNS and peripheral nervous system. Signals through the inhibition of adenylate cyclase and displays high constitutive activity (spontaneous activity in the absence of agonist). Agonist stimulation of isoform 3 neither modified adenylate cyclase activity nor induced intracellular calcium mobilization., [UniProtKB]; Unraveling the venom chemistry with evidence for histamine as key regulator in the envenomation by caterpillar Automeris zaruma. 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 7, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q4QRI7;Q9GZX2;Q9H4K8", "ec_number_list": [], "go_molecular_function": "GO:0030594 neurotransmitter receptor activity;GO:0004969 histamine receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030425 dendrite;GO:0045202 synapse;GO:0098793 presynapse", "go_biological_process": "GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007197 adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway;GO:0007187 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;GO:0007268 chemical synaptic transmission;GO:0007269 neurotransmitter secretion", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q9Y5N1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZRP7-1", "uniprot_id": [ { "id": "QSOX2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZRP7", "type": "external" } ], "mass": 77529.0, "length": 698, "protein_name": "Sulfhydryl oxidase 2", "gene_name": "QSOX2", "organism": "Human", "refseq_name": "sulfhydryl oxidase 2 precursor", "refseq_ac": [ { "id": "NP_859052", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_859052", "type": "external" } ], "gene_names_uniprotkb": "QSOX2; QSCN6L1; SOXN", "gene_names_refseq": "QSCN6L1; QSOX2; SOXN", "protein_names_uniprotkb": "Sulfhydryl oxidase 2; 1.8.3.2; Neuroblastoma-derived sulfhydryl oxidase; Quiescin Q6-like protein 1", "protein_names_refseq": "neuroblastoma-derived sulfhydryl oxidase; quiescin Q6 sulfhydryl oxidase 2; quiescin Q6-like 1; quiescin Q6-like protein 1; sulfhydryl oxidase 2 precursor; sulfhydryl oxidase 2; thiol oxidase 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:169714)", "pathway_count": 1, "publication_count": 54, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;11237011;14633699;17081983;18452278;18669648;18691976;19651622;20068231;20189936;21406692;23090970;23584533;24190977;25813380;26894260;26992070;27600516;28228285;28467828;28514659;28832583;28904123;29242379;29557506;29632711;30459171;31611695;31844290;32157095;32161166;32350084;32357974;32897882;33465208;33592498;33912179;33936100;34019948;34105348;34357683;34433824;34592197;35051231;35154160;35251023;35494241;36215666;38489772;39341815;40307207;40914422", "class_list": "", "function": "Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction. Publication Status: Online-Only, [RefSeq, PubMed]; QSOX2 is a member of the sulfhydryl oxidase/quiescin-6 (Q6) family (QSOX1; MIM 603120) that regulates the sensitization of neuroblastoma cells for IFN-gamma (IFNG; MIM 147570)-induced cell death (Wittke et al., 2003 [PubMed 14633699]).[supplied by OMIM, Jun 2009]., [RefSeq]; Results identify SOXN as a major player in Regulating the sensitization of neuroblastoma cells for IFN-gamma-induced apoptosis., [RefSeq, PubMed]; Self-interaction of the transmembrane helix of QSOX2 rests on a motif of conserved amino acids compromising one face of the helix., [RefSeq, PubMed]; Site-specific immobilization of the endosialidase reveals QSOX2 is a novel polysialylated protein., [RefSeq, PubMed]; Sulfhydryl oxidase that catalyzes the oxidation of protein thiol groups to form disulfide bonds, with the reduction of oxygen to hydrogen peroxide (By similarity). May contribute to disulfide bond formation in secreted proteins (By similarity). May play a role in regulating the sensitization of neuroblastoma cells for interferon-gamma-induced apoptosis (PubMed:14633699). Required for normal ovarian function (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; The role of cell surface proteins gene expression in diagnosis, prognosis, and drug resistance of colorectal cancer: In silico analysis and validation., [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": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 15, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 15, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 15, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 36, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 0, "glyco_site_count": 20, "binding_glycan_count": 0, "secondary_ac_list": "A2CEE0;A6NLB0;Q5TB37;Q7Z7B6;Q86VV7;Q8N3G2", "ec_number_list": [ { "id": "1.8.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.2", "type": "external" } ], "go_molecular_function": "GO:0016971 flavin-dependent sulfhydryl oxidase activity;GO:0003756 protein disulfide isomerase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005615 extracellular space;GO:0005654 nucleoplasm;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane", "go_biological_process": "GO:0006457 protein folding", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q6ZRP7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6WBX8-5", "uniprot_id": [ { "id": "RAD9B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6WBX8", "type": "external" } ], "mass": 47832.0, "length": 426, "protein_name": "Cell cycle checkpoint control protein RAD9B", "gene_name": "RAD9B", "organism": "Human", "refseq_name": "cell cycle checkpoint control protein RAD9B isoform b", "refseq_ac": [ { "id": "NP_001273460", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273460", "type": "external" } ], "gene_names_uniprotkb": "RAD9B", "gene_names_refseq": "RAD9B", "protein_names_uniprotkb": "Cell cycle checkpoint control protein RAD9B; DNA repair exonuclease rad9 homolog B; hRAD9B", "protein_names_refseq": "DNA repair exonuclease rad9 homolog B; RAD9 homolog B; cell cycle checkpoint control protein RAD9B isoform b; cell cycle checkpoint control protein RAD9B", "tax_id": 9606, "disease": "", "pathway": " (hsa:144715); (R-HSA-176187); (R-HSA-5685938); (R-HSA-5693607); (R-HSA-5693616); (R-HSA-6804756); (R-HSA-69473); (R-HSA-9709570)", "pathway_count": 8, "publication_count": 168, "publication_id_list": "10051570;10212258;10373362;10373512;10435622;10438626;10500146;10551859;10570149;10570174;10604467;10673500;10673501;10710310;10733923;10744977;10777662;10827953;10859164;10884347;10921897;11080452;11139606;11239457;11301010;11376695;11390642;11447225;11511362;11546806;11551930;11571269;11698410;11740489;11751635;11780126;11832208;12064478;12139939;12152085;12191481;12226092;12228710;12370410;12379650;12393879;12399544;12545175;12578958;12676583;12676925;12702766;12750383;12759351;12791985;12851404;12914926;12963847;14500360;14576433;14603323;14605214;14611806;14624239;14702041;14734547;15053879;15189136;15190204;15226314;15359272;15485900;15665856;15703751;15707391;15743907;15833913;15866171;16148040;16153896;16322561;16327781;16360315;16365875;16407120;16530042;16885023;17108107;17349958;17515903;17575048;17591690;17928296;17962301;17965729;18171670;18317453;18480045;18490454;18539610;18541667;18757400;18805091;18923075;18971343;19121998;19357644;19419957;19965871;20154705;20233725;20729832;20729858;20729859;20959462;20965415;21052091;21240188;21263215;21317932;21325134;21335604;21565612;21659603;21680713;21777809;21804533;22021381;22024395;22194698;22231403;22399810;22635276;22661229;22661230;22792074;22977173;23000554;23149936;23345434;23468639;23485397;23676219;23810717;24013206;24145406;24874608;25113031;25122754;25558984;25659039;26145171;29557506;31844290;31898828;33968037;33978741;34440403;36172813;37460044;8196638;8702565;8943031;9278511;9278512;9705271;9837724;9925639", "class_list": "", "function": "Expression of RAD9B in the mesostriatal system of rats and humans: Overexpression in a 6-OHDA rat model of Parkinson's disease., [RefSeq, PubMed]; Loss of RAD9B impairs early neural development and contributes to the risk for human spina bifida. Erratum:[Hum Mutat. 2021 Apr;42(4):487. doi: 10.1002/humu.24175. PMID: 33856736], [RefSeq, PubMed]; Rad9B responds to nucleolar stress after the activation of JNK-dependent stress signalling and ATR-dependent DNA damage response pathways, and actively accumulates within nucleoli, where it does not cause a transcription block., [RefSeq, PubMed]; The encoded mammalian proteins participate in promoting resistance to DNA damage, cell cycle checkpoint control, DNA repair, and apoptosis. Review article, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5U5K0;Q6NVJ1;Q6ZVT7;Q8N7T9;Q96LI8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0030896 checkpoint clamp complex", "go_biological_process": "GO:0000076 DNA replication checkpoint signaling;GO:0006281 DNA repair;GO:0071479 cellular response to ionizing radiation;GO:0031573 mitotic intra-S DNA damage checkpoint signaling", "synthesized_glycan_count": 0, "hit_score": 16.9, "record_id": "Q6WBX8-5", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T0L3-1", "uniprot_id": [ { "id": "SPT46_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T0L3", "type": "external" } ], "mass": 29150.0, "length": 261, "protein_name": "Spermatogenesis-associated protein 46", "gene_name": "SPATA46", "organism": "Human", "refseq_name": "spermatogenesis-associated protein 46", "refseq_ac": [ { "id": "NP_872387", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872387", "type": "external" } ], "gene_names_uniprotkb": "SPATA46; C1orf111; HSD20", "gene_names_refseq": "C1orf111; HSD20; SPATA46; TEKT2BP2", "protein_names_uniprotkb": "Spermatogenesis-associated protein 46", "protein_names_refseq": "spermatogenesis-associated protein 46; uncharacterized protein C1orf111", "tax_id": 9606, "disease": "", "pathway": " (hsa:284680)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;27488028", "class_list": "", "function": "Plays a role in spermiogenesis and fertilization., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q6X961;Q8NEC3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0031965 nuclear membrane", "go_biological_process": "GO:0007283 spermatogenesis;GO:0007342 fusion of sperm to egg plasma membrane involved in single fertilization;GO:0009566 fertilization;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q5T0L3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14624-1", "uniprot_id": [ { "id": "ITIH4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14624", "type": "external" } ], "mass": 103357.0, "length": 930, "protein_name": "Inter-alpha-trypsin inhibitor heavy chain H4", "gene_name": "ITIH4", "organism": "Human", "refseq_name": "inter-alpha-trypsin inhibitor heavy chain H4 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001159921", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159921", "type": "external" } ], "gene_names_uniprotkb": "ITIH4; IHRP; ITIHL1; PK120; PRO1851", "gene_names_refseq": "GP120; H4P; IHRP; ITI-HC4; ITIH4; ITIHL1; PK-120; PK120", "protein_names_uniprotkb": "Inter-alpha-trypsin inhibitor heavy chain H4; Gp120; IHRP; ITI heavy chain H4; ITI-HC4; Inter-alpha-inhibitor heavy chain 4; Inter-alpha-trypsin inhibitor family heavy chain-related protein; PK-120; Plasma kallikrein sensitive glycoprotein 120", "protein_names_refseq": "ITI heavy chain H4; inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein); inter-alpha-inhibitor heavy chain 4; inter-alpha-trypsin inhibitor family heavy chain-related protein; inter-alpha-trypsin inhibitor heavy chain H4 isoform 2 precursor; inter-alpha-trypsin inhibitor heavy chain family member 4; inter-alpha-trypsin inhibitor, heavy chain-like, 1; plasma kallikrein-sensitive glycoprotein 120", "tax_id": 9606, "disease": "pulmonary tuberculosis (Disease Ontology:DOID:2957); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); liver cirrhosis (Disease Ontology:DOID:5082); myocardial infarction (Disease Ontology:DOID:5844); hepatocellular carcinoma (Disease Ontology:DOID:684); intermediate coronary syndrome (Disease Ontology:DOID:8805); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:3700); (R-HSA-114608)", "pathway_count": 2, "publication_count": 74, "publication_id_list": "10486281;11237011;12147176;12754519;1435334;14630798;14760718;15297306;16271702;16335952;18288973;19159218;19263524;21137033;22171320;23090970;23640497;23719902;24279413;24530628;24884609;26598643;26768311;26992070;27452731;27726376;27862975;28514659;29242379;29391424;29493099;29557506;29632711;29671580;29741879;29786170;29789417;30237853;30459171;30484775;31154438;31844290;31848261;32157095;32350084;32938616;32983136;33043033;33091337;33592498;33912179;34087483;34171305;34725484;35051231;35459695;35580925;36010968;36215666;36284347;36841032;36891881;37074911;37335061;38156824;38253038;38289873;6457647;7541790;7775381;7805892;7947966;8467233;8797089", "class_list": "", "function": "Hyperglycosylated N-Linked Site 339 of gp120 Appears to Be Unique and May Contribute to CRF01_AE Transmission Among Men Who Have Sex with Men in China and Thailand., [RefSeq, PubMed]; PGK1 modulates balance between pro- and anti-inflammatory cytokines by interacting with ITI-H4., [RefSeq, PubMed]; Serum ITIH4 in coronary heart disease: a potential anti-inflammatory biomarker related to stenosis degree and risk of major adverse cardiovascular events., [RefSeq, PubMed]; Serum interalpha-trypsin inhibitor heavy chain H4 may be an anti-inflammatory marker reflecting disease risk, activity and treatment outcome of ankylosing spondylitis., [RefSeq, PubMed]; The protein encoded by this gene is secreted into the blood, where it is cleaved by plasma kallikrein into two smaller forms. Expression of this gene has been detected only in liver, and it seems to be upregulated during surgical trauma. This gene is part of a cluster of similar genes on chromosome 3. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]., [RefSeq]; Translatome profiling reveals Itih4 as a novel smooth muscle cell-specific gene in atherosclerosis., [RefSeq, PubMed]; Type II acute-phase protein (APP) involved in inflammatory responses to trauma. May also play a role in liver development or regeneration., [UniProtKB, 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": 5, "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": 5, "reported_o_glycosites_with_glycan": 10, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 10, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 10, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 3, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 46, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "risk", "glycan_count": 191, "disease_count": 7, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "B7Z545;E9PGN5;Q15135;Q9P190;Q9UQ54", "ec_number_list": [], "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity;GO:0004866 endopeptidase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome;GO:0072562 blood microparticle", "go_biological_process": "GO:0006953 acute-phase response;GO:0034097 response to cytokine;GO:0030212 hyaluronan metabolic process", "synthesized_glycan_count": 0, "hit_score": 28.1, "record_id": "Q14624-1", "record_type": "protein", "filter_code": "0000100.1000111.010000.000000000001000000.1100100000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5F1-1", "uniprot_id": [ { "id": "PCDBC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5F1", "type": "external" } ], "mass": 86770.0, "length": 795, "protein_name": "Protocadherin beta-12", "gene_name": "PCDHB12", "organism": "Human", "refseq_name": "protocadherin beta-12 precursor", "refseq_ac": [ { "id": "NP_061755", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061755", "type": "external" } ], "gene_names_uniprotkb": "PCDHB12", "gene_names_refseq": "PCDH-BETA12; PCDHB12", "protein_names_uniprotkb": "Protocadherin beta-12; PCDH-beta-12", "protein_names_refseq": "PCDH-beta-12; protocadherin beta-12 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:56124)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "10380929;11237011;11322959;31844290;32488085;32938616;33592498;33968037;34171305;35051231;35494241", "class_list": "", "function": "Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 74, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B4DDU1", "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_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9Y5F1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8MZF0-1", "uniprot_id": [ { "id": "PRR33_HUMAN", "url": "https://www.uniprot.org/uniprot/A8MZF0", "type": "external" } ], "mass": 35187.0, "length": 331, "protein_name": "Proline-rich protein 33", "gene_name": "PRR33", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "PRR33; C11orf89", "gene_names_refseq": "", "protein_names_uniprotkb": "Proline-rich protein 33", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:102724536)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A6NI49", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A8MZF0-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6K0P9-1", "uniprot_id": [ { "id": "IFIX_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6K0P9", "type": "external" } ], "mass": 55065.0, "length": 492, "protein_name": "Pyrin and HIN domain-containing protein 1", "gene_name": "PYHIN1", "organism": "Human", "refseq_name": "pyrin and HIN domain-containing protein 1 isoform alpha 1", "refseq_ac": [ { "id": "NP_689714", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689714", "type": "external" } ], "gene_names_uniprotkb": "PYHIN1; IFIX", "gene_names_refseq": "IFIX; PYHIN1", "protein_names_uniprotkb": "Pyrin and HIN domain-containing protein 1; Interferon-inducible protein X", "protein_names_refseq": "interferon-inducible protein X; pyrin and HIN domain-containing protein 1 isoform alpha 1; pyrin and HIN domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:149628)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "11237011;15122330;16479015;18247378;20595294;23481700;26992070;28077445;28832583;28834231;29242379;29493099;29508533;29557506;29632711;30315122;30379171;30429286;31154438;31848261;32102850;32502341;32983136;35580925", "class_list": "", "function": "A new member of the hematopoietic interferon (IFN)-inducible nuclear protein. Six different alternatively spliced forms are transcribed from the IFIX gene, [RefSeq, PubMed]; IFIX alpha1 isoform functions as a tumor suppressor by repressing HDM2 function, [RefSeq, PubMed]; IFIXalpha suppressed the invasion activity of MDA-MB-468 breast cancer cells, and its inhibitory effect was reversed by the knockdown of maspin, [RefSeq, PubMed]; Major mediator of the tumor suppressor activity of IFN in breast cancer cells. Promotes ubiquitination and subsequent degradation of MDM2, which leads to p53/TP53 stabilization. Promotes ubiquitination and subsequent degradation of HDAC1, which in turn enhances maspin expression, and impairs invasive activity of cancer cells., [UniProtKB, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; PYHIN1 regulates pro-inflammatory cytokine induction rather than innate immune DNA sensing in airway epithelial cells., [RefSeq, PubMed]; Study demonstrates that IFIX antiviral functions work in part via viral transcriptional suppression and that HSV-1 has acquired mechanisms to block its functions via proteasome-dependent degradation., [RefSeq, PubMed]; The protein encoded by this gene belongs to the HIN-200 family of interferon-inducible proteins that share a 200-amino acid signature motif at their C-termini. HIN200 proteins are primarily nuclear and are involved in transcriptional regulation of genes important for cell cycle control, differentiation, and apoptosis. Downregulation of this gene is associated with breast cancer. This protein acts as a tumor suppressor by promoting ubiquitination and subsequent degradation of MDM2, which leads to stabilization of p53/TP53. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5T3W6;Q6K0P6;Q6K0P7;Q6K0P8;Q8WW65", "ec_number_list": [], "go_molecular_function": "GO:0031625 ubiquitin protein ligase binding;GO:0003690 double-stranded DNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005829 cytosol;GO:0016607 nuclear speck;GO:0032991 protein-containing complex", "go_biological_process": "GO:0035457 cellular response to interferon-alpha;GO:0045893 positive regulation of DNA-templated transcription;GO:0050821 protein stabilization;GO:0043517 positive regulation of DNA damage response, signal transduction by p53 class mediator;GO:1900182 positive regulation of protein localization to nucleus", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q6K0P9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15232-1", "uniprot_id": [ { "id": "MATN3_HUMAN", "url": "https://www.uniprot.org/uniprot/O15232", "type": "external" } ], "mass": 52817.0, "length": 486, "protein_name": "Matrilin-3", "gene_name": "MATN3", "organism": "Human", "refseq_name": "matrilin-3 precursor", "refseq_ac": [ { "id": "NP_002372", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002372", "type": "external" } ], "gene_names_uniprotkb": "MATN3", "gene_names_refseq": "DIPOA; EDM5; HOA; MATN3; OADIP; OS2; SEMDBCD", "protein_names_uniprotkb": "Matrilin-3", "protein_names_refseq": "matrilin-3 precursor", "tax_id": 9606, "disease": "multiple epiphyseal dysplasia 5 (Disease Ontology:DOID:0070299); Marfan syndrome (Disease Ontology:DOID:14323); osteochondrodysplasia (Disease Ontology:DOID:2256); osteoarthritis (Disease Ontology:DOID:8398); osteoarthritis susceptibility 2 (MONDO:MONDO:0007704); spondyloepimetaphyseal dysplasia, matrilin-3 type (MONDO:MONDO:0012108)", "pathway": " (hsa:4148); (R-HSA-3000178); (R-HSA-381426); (R-HSA-8957275)", "pathway_count": 4, "publication_count": 129, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10022829;10026136;10077652;10218588;10339611;10512690;10614670;10673326;10681634;10810289;10898936;10912521;10951195;10990447;11084047;11158056;11250653;11259413;11264294;11316783;11479597;11522292;11606061;11739083;11751371;11788658;12225811;12241545;12379487;12466191;12736871;12810533;12884427;12904166;1370451;1376317;1383255;14715956;14729835;15075323;15121775;15126567;15296743;15308688;1544908;15459972;15469690;15485880;15525596;15642270;15948199;16287128;16293224;16493581;17047378;17249697;17312271;17588949;17985932;2059554;21642437;21789315;21922596;22134916;23584533;2364322;2412224;2420006;2430969;2476804;2479552;25813380;26091039;29786170;32157095;32938616;33592498;34171305;34900024;35051231;36675026;37217939;38193601;39170027;39353384;6193777;6439184;7499434;7519608;7523391;7525263;7525634;7525824;7527058;7527330;7538844;7542669;7543116;7559467;7588299;7683646;7685013;7689487;7693733;7852349;8002934;8440685;8781553;8798654;8817670;8894645;8943283;8964575;9252349;9287130;9294172;9341124;9346959;9350998;9497324;9685393;9709957;9733769;9786878;9799608;9922210;9949188", "class_list": "", "function": "Amino acid metabolism-related genes as potential biomarkers and the role of MATN3 in stomach adenocarcinoma: A bioinformatics, mendelian randomization and experimental validation study., [RefSeq, PubMed]; Curcumin Reduces Pathological Endoplasmic Reticulum Stress through Increasing Proteolysis of Mutant Matrilin-3. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of MATN3 as a Novel Prognostic Biomarker for Gastric Cancer through Comprehensive TCGA and GEO Data Mining. Publication Status: Online-Only, [RefSeq, PubMed]; Major component of the extracellular matrix of cartilage and may play a role in the formation of extracellular filamentous networks., [UniProtKB]; The phase separation of extracellular matrix protein matrilin-3 from cancer-associated fibroblasts contributes to gastric cancer invasion., [RefSeq, PubMed]; This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains two von Willebrand factor A domains; it is present in the cartilage extracellular matrix and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008]., [RefSeq]; [Relationship Between the Expression of Human Matricellular Protein 3 and the Pathological Features, Drug Resistance, and Prognosis of Gastric Cancer Based on Immunohistochemical Method]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 2, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 6, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2CPU0;Q4ZG02", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0005201 extracellular matrix structural constituent", "go_cellular_component": "GO:0005576 extracellular region;GO:0005788 endoplasmic reticulum lumen;GO:0031012 extracellular matrix", "go_biological_process": "GO:0030198 extracellular matrix organization;GO:0001501 skeletal system development", "synthesized_glycan_count": 0, "hit_score": 13.8, "record_id": "O15232-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P47224-1", "uniprot_id": [ { "id": "MSS4_HUMAN", "url": "https://www.uniprot.org/uniprot/P47224", "type": "external" } ], "mass": 13839.0, "length": 123, "protein_name": "Guanine nucleotide exchange factor MSS4", "gene_name": "RABIF", "organism": "Human", "refseq_name": "guanine nucleotide exchange factor MSS4", "refseq_ac": [ { "id": "NP_002862", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002862", "type": "external" } ], "gene_names_uniprotkb": "RABIF; MSS4; RASGRF3", "gene_names_refseq": "MSS4; RABIF; RASGFR3; RASGRF3", "protein_names_uniprotkb": "Guanine nucleotide exchange factor MSS4; Rab-interacting factor", "protein_names_refseq": "Ras-specific guanine-releasing factor 3; guanine nucleotide exchange factor MSS4; mammalian suppressor of SEC4; rab-interacting factor", "tax_id": 9606, "disease": "", "pathway": " (hsa:5877)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "16541104;22223895;25418920;25576301;26811146;26929215;27920218;29242379;29393594;29557506;29632046;30315122;31217245;31540829;31844290;32157095;32265295;32387766;33968037;33981976;35051231;37644748;39414994;39894887;7619808;7651540;9441742", "class_list": "", "function": "Guanine-nucleotide-releasing protein that acts on members of the SEC4/YPT1/RAB subfamily. Stimulates GDP release from both YPT1, RAB3A and RAB10, but is less active on these proteins than on the SEC4 protein (PubMed:31540829). Might play a general role in vesicular transport., [UniProtKB, PubMed]; Identification of the Roles of Coagulation-related Signature and its Key Factor RABIF in Hepatoma Cell Malignancy., [RefSeq, PubMed]; RABIF promotes hepatocellular carcinoma progression through regulation of mitophagy and glycolysis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the SCE4/YPT1/RAB family of small GTP-binding proteins that are involved in the regulation of intracellular vesicular transport. This protein stimulates GTP-GDP exchange in SEC4, and to a lesser extent in YPT1 and RAB3A, and may play a general role in vesicular transport. [provided by RefSeq, Oct 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 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": "B2R4P4;Q92992", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0015031 protein transport;GO:0007264 small GTPase-mediated signal transduction;GO:0061025 membrane fusion;GO:0006892 post-Golgi vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "P47224-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NFU8-1", "uniprot_id": [ { "id": "PGPIL_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NFU8", "type": "external" } ], "mass": 21631.0, "length": 196, "protein_name": "Pyroglutamyl-peptidase 1-like protein", "gene_name": "PGPEP1L", "organism": "Human", "refseq_name": "pyroglutamyl-peptidase 1-like protein isoform 1", "refseq_ac": [ { "id": "NP_001096082", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001096082", "type": "external" } ], "gene_names_uniprotkb": "PGPEP1L", "gene_names_refseq": "PGPEP1L", "protein_names_uniprotkb": "Pyroglutamyl-peptidase 1-like protein; 3.4.19.-", "protein_names_refseq": "pyroglutamyl-peptidase 1-like protein isoform 1; pyroglutamyl-peptidase 1-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:145814)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;29557506;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": 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": "H0YF86", "ec_number_list": [], "go_molecular_function": "GO:0008233 peptidase activity;GO:0008234 cysteine-type peptidase activity;GO:0016920 pyroglutamyl-peptidase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "A6NFU8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N271-1", "uniprot_id": [ { "id": "PROM2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N271", "type": "external" } ], "mass": 91883.0, "length": 834, "protein_name": "Prominin-2", "gene_name": "PROM2", "organism": "Human", "refseq_name": "prominin-2 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001159449", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159449", "type": "external" } ], "gene_names_uniprotkb": "PROM2; PRO6014; PROML2", "gene_names_refseq": "PROM2; PROML2", "protein_names_uniprotkb": "Prominin-2; PROM-2; Prominin-like protein 2; hPROML2", "protein_names_refseq": "prominin-2 isoform 1 precursor; prominin-like protein 2; prominin-related protein", "tax_id": 9606, "disease": "retinal degeneration (Disease Ontology:DOID:8466)", "pathway": " (hsa:150696)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12446606;12514187;12975309;16673119;17874118;18536929;19690332;19724856;23090970;24190977;25576301;25645385;29741879;30779550;32123287;32488085;33968037;34087483;34728613;35051231;35580925;37074911;37665741;38515278", "class_list": "", "function": "Identification as well as molecular and cell biological characterization, [RefSeq, PubMed]; LncRNA RP11-89 facilitates tumorigenesis and ferroptosis resistance through PROM2-activated iron export by sponging miR-129-5p in bladder cancer. Publication Status: Online-Only, [RefSeq, PubMed]; PROM2 overexpression induces metastatic potential through epithelial-to-mesenchymal transition and ferroptosis resistance in human cancers., [RefSeq, PubMed]; PROM2 promotes gemcitabine chemoresistance via activating the Akt signaling pathway in pancreatic cancer., [RefSeq, PubMed]; Prominin 2 decreases cisplatin sensitivity in non-small cell lung cancer and is modulated by CTCC binding factor. Publication Status: Online-Only, [RefSeq, PubMed]; Prominin-2 is widely and abundantly expressed along the epithelia of various segments of the adult male genitourinary tract., [RefSeq, PubMed]; Prominin-2, another protein in the same family as CD133/prominin-1, may not play an important functional role in the growth of human glioma and hepatocellular carcinoma cells, [RefSeq, PubMed]; This gene encodes a member of the prominin family of pentaspan membrane glycoproteins. The encoded protein localizes to basal epithelial cells and may be involved in the organization of plasma membrane microdomains. 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": 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": 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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 8836, "biomarker_type": "", "glycan_count": 17, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A8K2V1;Q2HIX6;Q8NB84;Q8TAE2", "ec_number_list": [], "go_molecular_function": "GO:0015485 cholesterol binding", "go_cellular_component": "GO:0044393 microspike;GO:0005886 plasma membrane;GO:0005929 cilium;GO:0009986 cell surface;GO:0016323 basolateral plasma membrane", "go_biological_process": "GO:0048550 negative regulation of pinocytosis;GO:0001934 positive regulation of protein phosphorylation;GO:0043087 regulation of GTPase activity;GO:0032528 microvillus organization;GO:0031346 positive regulation of cell projection organization", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q8N271-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y662-1", "uniprot_id": [ { "id": "HS3SB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y662", "type": "external" } ], "mass": 43324.0, "length": 390, "protein_name": "Heparan sulfate glucosamine 3-O-sulfotransferase 3B1", "gene_name": "HS3ST3B1", "organism": "Human", "refseq_name": "heparan sulfate glucosamine 3-O-sulfotransferase 3B1", "refseq_ac": [ { "id": "NP_006032", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006032", "type": "external" } ], "gene_names_uniprotkb": "HS3ST3B1; 3OST3B1; HS3ST3B", "gene_names_refseq": "3-OST-3B; 3OST3B1; HS3ST3B1; h3-OST-3B", "protein_names_uniprotkb": "Heparan sulfate glucosamine 3-O-sulfotransferase 3B1; 2.8.2.30; 3-OST-3B; Heparan sulfate 3-O-sulfotransferase 3B1; Heparan sulfate D-glucosaminyl 3-O-sulfotransferase 3B1; h3-OST-3B", "protein_names_refseq": "heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1; heparan sulfate 3-O-sulfotransferase 3B1; heparan sulfate D-glucosaminyl 3-O-sulfotransferase 3B1; heparan sulfate glucosamine 3-O-sulfotransferase 3B1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9953); (R-HSA-2022928)", "pathway_count": 2, "publication_count": 43, "publication_id_list": "10.1038/emboj.2013.79;10318803;10520990;10639137;10644753;10677367;10716625;11087757;11169766;11274177;11279150;11390981;12138164;12492399;15082721;15607426;16343444;20554947;20705311;21700882;23584533;24127555;28132690;28148688;28832583;29242379;29516954;29718295;30471091;31020640;31611695;32350084;33159882;34185709;35251023;35676258;7601448;9346953;9463333;9535912;9915799;9988767;9988768", "class_list": "glycogene", "function": "A genome-wide high-throughput siRNA screen revealed that KIR2DL4 recognition of cell-surface ligand(s) is directly regulated by heparan sulfate glucosamine 3-O-sulfotransferase 3B1 (HS3ST3B1)., [RefSeq, PubMed]; HS3ST3B1 showed potent inhibitory effect on HBV replication., [RefSeq, PubMed]; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to an N-unsubstituted glucosamine linked to a 2-O-sulfo iduronic acid unit on heparan sulfate (PubMed:10520990, PubMed:9988768). Catalyzes the O-sulfation of glucosamine in IdoUA2S-GlcNS and also in IdoUA2S-GlcNH2 (PubMed:10520990, PubMed:9988768). The substrate-specific O-sulfation generates an enzyme-modified heparan sulfate which acts as a binding receptor to Herpes simplex virus-1 (HSV-1) and permits its entry (PubMed:10520990). Unlike HS3ST1/3-OST-1, does not convert non-anticoagulant heparan sulfate to anticoagulant heparan sulfate (PubMed:9988768)., [UniProtKB, PubMed, PubMed]; The SNP rs28470223 results in decreased promoter activity of HS3ST3A1 and slightly higher HS3ST3A1 catalytic activity in vitro., [RefSeq, PubMed]; The protein encoded by this gene is a type II integral membrane protein that belongs to the 3-O-sulfotransferases family. These proteins catalyze the addition of sulfate groups at the 3-OH position of glucosamine in heparan sulfate. The substrate specificity of individual members of the family is based on prior modification of the heparan sulfate chain, thus allowing different members of the family to generate binding sites for different proteins on the same heparan sulfate chain. Following treatment with a histone deacetylase inhibitor, expression of this gene is activated in a pancreatic cell line. The increased expression results in promotion of the epithelial-mesenchymal transition. In addition, the modification catalyzed by this protein allows herpes simplex virus membrane fusion and penetration. A very closely related homolog with an almost identical sulfotransferase domain maps less than 1 Mb away. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]., [RefSeq]; These findings indicate that HS3ST3B1 is a novel regulator of TGF-beta-mediated EMT and is regulated by miR-218 in NSCLC., [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": 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": 546, "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": "B3KN58;D3DTS6", "ec_number_list": [ { "id": "2.8.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.23", "type": "external" }, { "id": "2.8.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.-", "type": "external" }, { "id": "2.8.2.29", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.29", "type": "external" }, { "id": "2.8.2.30", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.30", "type": "external" } ], "go_molecular_function": "GO:0008467 [heparan sulfate]-glucosamine 3-sulfotransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005886 plasma membrane", "go_biological_process": "GO:0006024 glycosaminoglycan biosynthetic process;GO:0001658 branching involved in ureteric bud morphogenesis;GO:0015012 heparan sulfate proteoglycan biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q9Y662-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0M8Q6-1", "uniprot_id": [ { "id": "IGLC7_HUMAN", "url": "https://www.uniprot.org/uniprot/A0M8Q6", "type": "external" } ], "mass": 11254.0, "length": 106, "protein_name": "Immunoglobulin lambda constant 7", "gene_name": "IGLC7", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGLC7", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin lambda constant 7; Ig lambda-7 chain C region", "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": 538, "publication_id_list": 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"class_list": "immunoglobin", "function": "Constant region of immunoglobulin light chains. 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]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 156, "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": "A0A075B6L1", "ec_number_list": [], "go_molecular_function": "GO:0003823 antigen binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0071735 IgG immunoglobulin complex", "go_biological_process": "GO:0002250 adaptive immune response;GO:0050853 B cell receptor signaling pathway;GO:0016064 immunoglobulin mediated immune response", "synthesized_glycan_count": 0, "hit_score": 53.9, "record_id": "A0M8Q6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00001", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NJ69-1", "uniprot_id": [ { "id": "IGIP_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NJ69", "type": "external" } ], "mass": 5937.0, "length": 53, "protein_name": "IgA-inducing protein homolog", "gene_name": "IGIP", "organism": "Human", "refseq_name": "IgA-inducing protein homolog precursor", "refseq_ac": [ { "id": "NP_001007190", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007190", "type": "external" } ], "gene_names_uniprotkb": "IGIP; C5orf53", "gene_names_refseq": "C5orf53; IGIP", "protein_names_uniprotkb": "IgA-inducing protein homolog", "protein_names_refseq": "IgA-inducing protein homolog (Bos taurus); IgA-inducing protein homolog precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:492311)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "19201837", "class_list": "", "function": "Enhances IgA secretion from B-cells stimulated via CD40., [UniProtKB]; IgA-inducing protein stimulation drives the production of mu-alpha switch circles from IgM(+)IgD(+) naive human B cells, indicating its role as an IgA switch factor., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 0.2, "record_id": "A6NJ69-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95976-1", "uniprot_id": [ { "id": "IGSF6_HUMAN", "url": "https://www.uniprot.org/uniprot/O95976", "type": "external" } ], "mass": 27013.0, "length": 241, "protein_name": "Immunoglobulin superfamily member 6", "gene_name": "IGSF6", "organism": "Human", "refseq_name": "immunoglobulin superfamily member 6 precursor", "refseq_ac": [ { "id": "NP_005840", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005840", "type": "external" } ], "gene_names_uniprotkb": "IGSF6; DORA", "gene_names_refseq": "DORA; IGSF6", "protein_names_uniprotkb": "Immunoglobulin superfamily member 6; IgSF6; Protein DORA", "protein_names_refseq": "down-regulated by activation (immunoglobulin superfamily); immunoglobulin superfamily member 6 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:10261)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11132146;11237011;12786995;24714562;27862975;29557506;30429286;31154438;31848261;32157095;32983136;33123756;35051231;35580925;37938771;38037023;9809579", "class_list": "", "function": "Immunoglobulin superfamily 6 is a molecule involved in the anti-tumor activity of macrophages in lung adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; There was no evidence for association of the common IGSF6 single nucleotide polymorphisms with disease in a large cohort of patients with inflammatory bowel disease GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, 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"protein_names_uniprotkb": "Immunoglobulin kappa constant; Ig kappa chain C region AG; Ig kappa chain C region CUM; Ig kappa chain C region EU; Ig kappa chain C region OU; Ig kappa chain C region ROY; Ig kappa chain C region TI; Ig kappa chain C region", "protein_names_refseq": "", "tax_id": 9606, "disease": "recurrent infections associated with rare immunoglobulin isotypes deficiency (MONDO:MONDO:0013576)", "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": 582, "publication_id_list": 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"class_list": "immunoglobin", "function": "Constant region of immunoglobulin light chains. 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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 162, "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": "A0A075B6H6;A0A087X130", "ec_number_list": [], "go_molecular_function": "GO:0003823 antigen binding", "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:0006955 immune response;GO:0002250 adaptive immune response;GO:0050853 B cell receptor signaling pathway;GO:0016064 immunoglobulin mediated immune response", "synthesized_glycan_count": 0, "hit_score": 58.5, "record_id": "P01834-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00001", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01859-2", "uniprot_id": [ { "id": "IGHG2_HUMAN", "url": "https://www.uniprot.org/uniprot/P01859", "type": "external" } ], "mass": 43806.0, "length": 395, "protein_name": "Immunoglobulin heavy constant gamma 2", "gene_name": "IGHG2", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGHG2", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin heavy constant gamma 2; Ig gamma-2 chain C region DOT; Ig gamma-2 chain C region TIL; Ig gamma-2 chain C region ZIE; Ig gamma-2 chain C region", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-166663); (R-HSA-173623); (R-HSA-2029481); (R-HSA-2029482); (R-HSA-2029485); (R-HSA-9664323); (R-HSA-9664422); (R-HSA-977606)", "pathway_count": 8, "publication_count": 212, "publication_id_list": "37268159;10219243;10224668;10496324;10531307;10559936;10574203;10579907;1067618;10724160;10781580;10861086;10878810;10925294;10995437;11157975;11231582;11276226;11278486;113060;11329366;11340081;11340299;11406581;11425868;11553796;11694537;11747816;11749377;11804587;11829459;11854399;118920;11939578;12055245;12055636;12105426;12117970;12189515;12213210;12235133;12396008;12417718;1249422;12652077;12660731;12743368;12794146;12869549;1314888;1372004;1386357;14280442;14676198;15040784;15084671;15161916;15199963;15294978;15452139;15536084;15572068;15657136;15809313;15879134;16079145;16192651;16262445;1639758;16497229;16546099;16641196;16678913;16702231;16880808;16921024;16999828;17182573;17188549;17202194;17308335;17505110;17576170;17590538;18070890;18391171;18514042;18818202;19139490;19159218;19741094;19955216;20176268;20357243;21037092;2138613;21419341;21609021;21788512;22158414;22184099;22802338;23382691;23487775;2363690;23675550;23865566;23944609;24190977;2420889;24530628;2465906;2466593;24680513;2474607;24766575;2481448;24841998;25004930;2529342;25685702;25733881;25759508;28566370;29133956;293688;293746;2956252;29671580;2971659;29741879;29992770;301546;30237853;30429286;32125861;33563762;34725484;35494241;3567160;37217939;37421619;3848661;39983994;4098172;4940472;5782707;6019133;6214588;6219696;6222381;6230668;6238120;6329676;6334079;6454142;6607952;670886;6774012;6804948;6811139;6906228;702059;70787;7391570;7391573;7512959;7516890;7517665;7521687;7522622;7530449;7540366;7542572;760802;761607;7690834;7691959;7718892;7737190;7848918;814163;8226994;8228618;8327478;8340414;8345200;8495193;8538770;8541526;8611682;8657103;8786315;8809042;8862523;8870235;8986718;9000504;9038722;9042338;9050880;9162098;9314552;9600938;9705280;978134;9799231;9843499;9857068;9883880;9885284;9973503", "class_list": "", "function": "Constant region of immunoglobulin (Ig) heavy chains. Igs are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound Igs serve as receptors, which upon binding to a specific antigen trigger the clonal expansion and differentiation of B lymphocytes into Ig-secreting plasma cells. Secreted Igs known as antibodies mediate the effector phase of humoral immunity by blocking the interaction of infectious antigens with cellular receptors (via the antigen-binding region) and eliciting effector mechanisms that lead to pathogen neutralization (via the constant region) (PubMed:17576170, PubMed:20176268, PubMed:22158414). The antigen-binding region is formed by the variable domain of one heavy chain paired with the variable domain of its associated light chain. Each Ig molecule has two antigen-binding sites with remarkable affinity for a particular antigen due to V-(D)-J rearrangement, somatic hypermutations and affinity maturation of the variable domains upon antigen exposure (PubMed:17576170, PubMed:20176268, PubMed:22158414). The constant region defines the Ig isotype that perform distinct sets of effector functions. B cells diversify and rearrange their Ig constant regions through class-switch recombination, a process by which the constant region is switched from one Ig isotype to another, namely from IgM and IgD to IgG, IgA and IgE (PubMed:17576170, PubMed:20176268, PubMed:22158414). The constant region interacts (via the fragment crystallizable, Fc) with receptors on innate immune cells and the complement system to mediate humoral effector functions. Ig gamma-2 (IgG2) isotype formed against polysaccharide structures found on encapsulated bacteria elicits antibody-dependent protection through activation of complement pathway., [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": 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, 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"0000000.1100101.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P09565-1", "uniprot_id": [ { "id": "IG2R_HUMAN", "url": "https://www.uniprot.org/uniprot/P09565", "type": "external" } ], "mass": 12087.0, "length": 113, "protein_name": "Putative insulin-like growth factor 2-associated protein", "gene_name": "GIG44; PP9974", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "GIG44; PP9974", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative insulin-like growth factor 2-associated protein; Cell growth-inhibiting gene 44 protein; Insulin-like growth factor II-associated protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "15498874;3167054", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, 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"class_list": "immunoglobin", "function": "Constant region of immunoglobulin light chains. 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]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 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"class_list": "immunoglobin", "function": "Constant region of immunoglobulin light chains. 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]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 34, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0A075B6L0;A0M8Q4;P0CG05;P0CG06;P80423", "ec_number_list": [], "go_molecular_function": "GO:0003823 antigen binding", "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:0002250 adaptive immune response;GO:0050853 B cell receptor signaling pathway;GO:0016064 immunoglobulin mediated immune response", "synthesized_glycan_count": 0, "hit_score": 54.6, "record_id": "P0DOY3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00001", "kg_view_protein": true }, { "uniprot_canonical_ac": "P26012-1", "uniprot_id": [ { "id": "ITB8_HUMAN", "url": "https://www.uniprot.org/uniprot/P26012", "type": "external" } ], "mass": 85632.0, "length": 769, "protein_name": "Integrin beta-8", "gene_name": "ITGB8", "organism": "Human", "refseq_name": "integrin beta-8 precursor", "refseq_ac": [ { "id": "NP_002205", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002205", "type": "external" } ], "gene_names_uniprotkb": "ITGB8", "gene_names_refseq": "ITGB8", "protein_names_uniprotkb": "Integrin beta-8", "protein_names_refseq": "integrin beta-8 precursor; integrin beta-8", "tax_id": 9606, "disease": "", "pathway": " (hsa:3696); (R-HSA-2129379); (R-HSA-216083); (R-HSA-2173789)", "pathway_count": 4, "publication_count": 125, "publication_id_list": "10.1101/2023.09.13.557529;10025398;10209034;10366422;10424889;10438935;10543983;10544250;10593924;10605720;10640428;10646116;10673366;10713152;10811134;10930463;10982388;11100470;11141505;11158588;11390472;11518510;11572855;11713259;11970960;11980922;12358597;12415008;12429738;12482908;12496264;12585966;12682293;12807887;1333888;1400330;14701737;15240572;15330449;15345499;15350224;15383545;15564041;15713743;1588291;15899827;16002701;16051604;16239428;16731529;16754661;16933105;1708799;17324935;17339034;17968485;18339631;18469808;18710925;18775695;1918072;19502598;19720988;20033473;2010551;20625381;20705068;21646718;22278742;22539938;22862954;22884367;23290524;23374253;24714562;25645385;28832583;29242379;29557506;30429286;31792290;31844290;32157095;32350084;32488085;32938616;32983136;33592498;34371180;35238496;35676251;36008481;36284347;37074911;37909974;37938771;7500359;7505120;7525578;7534784;7541634;7542249;7559467;7685013;7693660;7737999;8047140;8118028;8242743;8344274;8560266;8798654;8838667;8910476;8947046;8980228;9233797;9251239;9311995;9346966;9443892;9565552;9725916;9858236;9865696", "class_list": "", "function": "Integrin alpha-V:beta-8 (ITGAV:ITGB8) is a receptor for fibronectin (PubMed:1918072). It recognizes the sequence R-G-D in its ligands (PubMed:1918072). Integrin alpha-V:beta-6 (ITGAV:ITGB6) mediates R-G-D-dependent release of transforming growth factor beta-1 (TGF-beta-1) from regulatory Latency-associated peptide (LAP), thereby playing a key role in TGF-beta-1 activation on the surface of activated regulatory T-cells (Tregs) (Probable). Required during vasculogenesis (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]; Integrin subunit beta 8 contributes to lenvatinib resistance in HCC., [RefSeq, PubMed]; Interaction of Integrin alphavbeta8 With Type I Collagen Promotes Squamous Cell Carcinoma Cell Motility via RAC1 Activation., [RefSeq, PubMed]; LncRNA ITGB8-AS1 functions as a ceRNA to promote colorectal cancer growth and migration through integrin-mediated focal adhesion signaling., [RefSeq, PubMed]; Paradoxical role of beta8 integrin on angiogenesis and vasculogenic mimicry in glioblastoma. Publication Status: Online-Only, [RefSeq, PubMed]; Specificity of TGF-beta1 signal designated by LRRC33 and integrin alphaVbeta8. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the integrin beta chain family and encodes a single-pass type I membrane protein with a VWFA domain and four cysteine-rich repeats. This protein noncovalently binds to an alpha subunit to form a heterodimeric integrin complex. In general, integrin complexes mediate cell-cell and cell-extracellular matrix interactions and this complex plays a role in human airway epithelial proliferation. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [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": 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": 6, "total_o_glycosites": 0, "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": 10, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A4D133;B4DHD4", "ec_number_list": [], "go_molecular_function": "GO:1990430 extracellular matrix protein binding;GO:0005178 integrin binding;GO:0015026 coreceptor activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0009986 cell surface;GO:0070062 extracellular exosome;GO:0008305 integrin complex", "go_biological_process": "GO:0001570 vasculogenesis;GO:0007155 cell adhesion;GO:0007229 integrin-mediated signaling pathway;GO:0010628 positive regulation of gene expression;GO:0010629 negative regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 14.2, "record_id": "P26012-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13325-1", "uniprot_id": [ { "id": "IFIT5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13325", "type": "external" } ], "mass": 55847.0, "length": 482, "protein_name": "Interferon-induced protein with tetratricopeptide repeats 5", "gene_name": "IFIT5", "organism": "Human", "refseq_name": "interferon-induced protein with tetratricopeptide repeats 5", "refseq_ac": [ { "id": "NP_036552", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036552", "type": "external" } ], "gene_names_uniprotkb": "IFIT5; ISG58; RI58", "gene_names_refseq": "IFIT5; ISG58; P58; RI58", "protein_names_uniprotkb": "Interferon-induced protein with tetratricopeptide repeats 5; IFIT-5; Interferon-induced 58 kDa protein; P58; Retinoic acid- and interferon-inducible 58 kDa protein", "protein_names_refseq": "IFIT-5; interferon-induced 58 kDa protein; interferon-induced protein with tetratricopeptide repeats 5; retinoic acid- and interferon-inducible 58 kDa protein; retinoic acid- and interferon-inducible protein (58kD)", "tax_id": 9606, "disease": "", "pathway": " (hsa:24138); (R-HSA-909733)", "pathway_count": 2, "publication_count": 128, "publication_id_list": "10395669;10542297;10982844;11092454;11237011;11337497;11377645;11404376;11585831;12029096;12766484;12842042;14769151;15047845;15312780;15449939;15778442;16009940;16171819;16385451;16987978;17251292;1730654;17351669;17969444;18035202;18452278;18575461;20130243;20363976;20643137;20950130;21642987;2211721;23061660;23121362;23301498;23317505;23334420;23774268;24417533;24714562;25092312;25371710;26154972;26334375;26992070;27862975;27920218;28063628;28228285;28832583;28834231;29242379;29393594;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30429286;30484775;30485383;30833945;31154438;31164632;31217245;31844290;31848261;32032529;32113509;32157095;32357974;32387766;32488085;32502341;32511913;32574262;32661006;32758689;32862111;32897882;32938616;32962861;32983136;33117408;33123756;33189161;33193462;33298915;33396578;33592498;33858962;33968037;34019948;34087483;34171305;34229054;34357683;34763233;35051231;35580925;36010968;36284347;38253038;6162102;6548414;688397;7510216;7526154;7537377;7540766;8197134;8232552;8605876;8621447;8702790;9096384;9121453;9242679;9334213;9398535;9660177;9847332;9861020", "class_list": "", "function": "Comprehensive analysis of the prognosis and biological significance for IFIT family in skin cutaneous melanoma., [RefSeq, PubMed]; Development of bis-ANS-based modified fluorescence titration assay for IFIT/RNA studies., [RefSeq, PubMed]; Expression of interferon induced protein with tetratricopeptide repeats 5 (IFIT5) is positively correlated with pathological characteristics, and predicts a poor prognosis of bladder cancer patients. Erratum:[Cell Death Dis. 2025 Apr 25;16(1):339. doi: 10.1038/s41419-025-07632-x. PMID: 40280954] Publication Status: Online-Only, [RefSeq, PubMed]; IFIT5 Negatively Regulates the Type I IFN Pathway by Disrupting TBK1-IKKepsilon-IRF3 Signalosome and Degrading IRF3 and IKKepsilon., [RefSeq, PubMed]; IFIT5 promotes SeV-induced IKK phosphorylation and NF-kappaB activation by regulating the recruitment of IKK to TAK1., [RefSeq, PubMed]; Interferon-induced RNA-binding protein involved in the human innate immune response. Has a broad and adaptable RNA structure recognition important for RNA recognition specificity in antiviral defense. Binds precursor and processed tRNAs as well as poly-U-tailed tRNA fragments (PubMed:23317505, PubMed:23774268, PubMed:25092312). Specifically binds single-stranded RNA bearing a 5'-triphosphate group (PPP-RNA), thereby acting as a sensor of viral single-stranded RNAs. Single-stranded PPP-RNAs, which lack 2'-O-methylation of the 5' cap and bear a 5'-triphosphate group instead, are specific from viruses, providing a molecular signature to distinguish between self and non-self mRNAs by the host during viral infection. Directly binds PPP-RNA in a non-sequence-specific manner (PubMed:23334420). Also recognizes and selectively binds AT-rich dsDNA (PubMed:23774268). Additionally, as a mediator in innate immunity, positively regulates IKK-NFKB signaling by sinergizing the recruitment of IKK to MAP3K7 (PubMed:26334375)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 41, "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": "B2R5X9;B4DDV1;Q5T7I9;Q6IAX3", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0000049 tRNA binding;GO:0003690 double-stranded DNA binding;GO:0003727 single-stranded RNA binding;GO:0008266 poly(U) RNA binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0015629 actin cytoskeleton;GO:0045177 apical part of cell;GO:0032587 ruffle membrane", "go_biological_process": "GO:0051607 defense response to virus;GO:0045071 negative regulation of viral genome replication;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0071345 cellular response to cytokine stimulus;GO:0140374 antiviral innate immune response", "synthesized_glycan_count": 0, "hit_score": 13.1, "record_id": "Q13325-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14623-1", "uniprot_id": [ { "id": "IHH_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14623", "type": "external" } ], "mass": 45251.0, "length": 411, "protein_name": "Indian hedgehog protein", "gene_name": "IHH", "organism": "Human", "refseq_name": "indian hedgehog protein preproprotein", "refseq_ac": [ { "id": "NP_002172", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002172", "type": "external" } ], "gene_names_uniprotkb": "IHH", "gene_names_refseq": "BDA1; HHG2; IHH", "protein_names_uniprotkb": "Indian hedgehog protein; 3.1.-.-; HHG-2; IHH", "protein_names_refseq": "Indian hedgehog homolog; indian hedgehog protein preproprotein; indian hedgehog protein", "tax_id": 9606, "disease": "primary bacterial infectious disease (Disease Ontology:DOID:0050338); familial adenomatous polyposis (Disease Ontology:DOID:0050424); acrocapitofemoral dysplasia (Disease Ontology:DOID:0050604); autism spectrum disorder (Disease Ontology:DOID:0060041); annular pancreas (Disease Ontology:DOID:0060850); brachydactyly type A1 (Disease Ontology:DOID:0110964); syndactyly type 1 (Disease Ontology:DOID:0111816); Hirschsprung's disease (Disease Ontology:DOID:10487); retinopathy of prematurity (Disease Ontology:DOID:13025); osteoarthritis (Disease Ontology:DOID:8398)", "pathway": " (hsa:3549); (R-HSA-373080); (R-HSA-5358346); (R-HSA-5362798); (R-HSA-5632681); (R-HSA-5632684); (R-HSA-5635838); (R-HSA-5658034); (R-HSA-8941284); (R-HSA-9758920)", "pathway_count": 10, "publication_count": 211, "publication_id_list": "10050855;10097073;10433824;10564661;10619433;10966113;10984056;11017805;11027307;11297558;11455389;11486055;11841368;11960000;12015973;12050670;12068298;12098667;12123571;12138125;12372301;12384778;12426310;12559132;12569124;12632327;14528312;14611647;14614827;14636583;15019948;15075292;15107406;15110707;15115751;15163793;15198976;15292211;15294024;15300262;15356051;15498814;15537544;15618519;15647319;15691767;15963974;16061793;16136078;16155214;16282375;16335952;16390857;16421275;16459297;16459298;16602827;16611729;16611981;16630821;16647304;16651542;16740475;16908539;16980583;17086203;17115028;17126548;17210683;17442700;17442891;17504940;17504941;17507410;17609110;17641202;17960137;17967162;18264092;18455992;18477453;18497258;18502753;18534984;18559595;18711132;18794898;18801728;18815277;18827223;18832070;19002207;19081070;19176481;19196978;19218434;19305393;19346256;19365551;19368795;19371734;19533801;19549984;19561609;19561611;19592253;19603532;19622347;19666503;19684112;19818708;19852954;19878745;19948480;19955409;19996169;20014402;20016067;20154143;20360384;20412775;20460306;20487519;20512148;20519495;20585641;20643644;20818436;20839884;20844013;20844016;20889716;20956384;20966082;21257310;21339334;21356043;21357747;21537345;21659505;21664575;21664576;21664577;21695114;21801010;21802063;21816240;21842183;21878643;22007132;22277298;22326621;22391301;22467855;22609552;22677548;22902404;22981989;22982193;22986504;23026747;23112049;23118222;23332756;23719536;23725801;23867461;23867465;23877428;23900540;23955340;24072710;24302888;24342078;24582806;24784881;24845016;24854174;24925320;25576301;31844290;34070546;34530144;35051231;35580925;3616618;37256934;37964167;6950381;7590746;7720571;7797535;7885476;7985023;8082781;8198617;8386612;8397094;8557170;8612563;8689684;8732687;8770894;8824192;8898207;8906787;8906794;9064337;9593755;9601642;9874371", "class_list": "", "function": "Acrocapitofemoral dysplasia: Novel mutation in IHH in two adult patients from the third family in the literature and progression of the disease., [RefSeq, PubMed]; Describes cloning of human IHH, [RefSeq, PubMed]; Highly Conserved C-Terminal Region of Indian Hedgehog N-Fragment Contributes to Its Auto-Processing and Multimer Formation. Publication Status: Online-Only, [RefSeq, PubMed]; Hsa-miR-15b-5p/miR-195-5p Controls Osteogenic Differentiation of Human Adipose-Derived Mesenchymal Stem Cells Through Regulating Indian Hedgehog Expression., [RefSeq, PubMed]; Indian Hedgehog release from TNF-activated renal epithelia drives local and remote organ fibrosis., [RefSeq, PubMed]; Precursor of indian hedgehog, a morphogen that activates the smoothened signaling pathway, and which is essential for bone and cartilage development (By similarity). The C-terminal part of the precursor displays an autoproteolysis and a cholesterol transferase activity, resulting (1) in the cleavage of the full-length protein into two parts, indian hedgehog protein N-product and C-product and (2) covalent attachment of a cholesterol moiety to the C-terminus of the newly generated N-product (By similarity). Both autoproteolysis and a cholesterol transferase activities occur in the endoplasmic reticulum (By similarity). Following additional lipidation, N-product acts as a morphogen, while C-product is degraded in the endoplasmic reticulum (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; The dually lipidated indian hedgehog protein N-product is a morphogen that activates the smoothened signaling pathway, and which is essential for bone and cartilage development (By similarity). Acts by binding to the patched receptor (PTCH1 or PTCH2), relieving smoothened (SMO) inhibition by patched, activating the smoothened signaling pathway and transcription of target genes (By similarity). In the absence of IHH, patched represses the constitutive signaling activity of SMO (By similarity). Plays a role in morphogenesis of the skeleton by coordinating growth and differentiation of the endochondral skeleton (By similarity). Positively regulates PTHLH expression during endochondral bone formation preventing chondrocyte hypertrophy (By similarity). In contrast, participates in normal chondrocyte proliferation in a PTHLH-independent pathway (By similarity). Involved in the development of retinal pigment epithelium (RPE), photoreceptors and periocular tissues (By similarity). Plays a role in hedgehog paracrine signaling (PubMed:24342078). Associated with the very-low-density lipoprotein (VLDL) particles to function as a circulating morphogen for endothelial cell integrity maintenance (PubMed:20839884)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; This gene encodes a member of the hedgehog family of proteins. The encoded preproprotein is proteolytically processed to generate multiple protein products, including an N-terminal fragment that is involved in signaling. Hedgehog family proteins are essential secreted signaling molecules that regulate a variety of developmental processes including growth, patterning and morphogenesis. The protein encoded by this gene specifically plays a role in bone growth and differentiation. Mutations in this gene are the cause of brachydactyly type A1, which is characterized by shortening or malformation of the fingers and toes. Mutations in this gene are also the cause of acrocapitofemoral dysplasia. [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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 10, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B9EGM5;O43322;Q8N4B9", "ec_number_list": [ { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.4.24.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.86", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.1.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.98", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" } ], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0008233 peptidase activity;GO:0005113 patched binding;GO:0140853 cholesterol-protein transferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0031012 extracellular matrix;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0001708 cell fate specification;GO:0045880 positive regulation of smoothened signaling pathway;GO:0046639 negative regulation of alpha-beta T cell differentiation;GO:0007267 cell-cell signaling;GO:0043066 negative regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 21.3, "record_id": "Q14623-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86WN2-1", "uniprot_id": [ { "id": "IFNE_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86WN2", "type": "external" } ], "mass": 24414.0, "length": 208, "protein_name": "Interferon epsilon", "gene_name": "IFNE", "organism": "Human", "refseq_name": "interferon epsilon precursor", "refseq_ac": [ { "id": "NP_795372", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_795372", "type": "external" } ], "gene_names_uniprotkb": "IFNE; IFNE1; PRO655", "gene_names_refseq": "IFN-E; IFNE1; IFNE; IFNT1; INFE1; PRO655", "protein_names_uniprotkb": "Interferon epsilon; IFN-epsilon; Interferon epsilon-1", "protein_names_refseq": "IFN-epsilon; interferon epsilon 1; interferon epsilon precursor; interferon tau-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:338376)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "12975309;15233997;17878351;18362232;23449591;33968037;35862222;36897927;37587335;38156399", "class_list": "", "function": "A meta-analysis and a single-nucleotide polymorphism (SNP) rs1333049 representing the 9p21.3 locus provide unprecedented evidence for association between genetic variants at chromosome 9p21.3 and risk of coronary artery disease., [RefSeq, PubMed]; Constitutive expression and distinct properties of IFN-epsilon protect the female reproductive tract from Zika virus infection. Publication Status: Online-Only, [RefSeq, PubMed]; Interferon-epsilon is a tumour suppressor and restricts ovarian cancer., [RefSeq, PubMed]; Spatiotemporal regulation of human IFN-epsilon and innate immunity in the female reproductive tract. Publication Status: Online-Only, [RefSeq, PubMed]; TNF-alpha leads to stabilization of IFN-epsilon mRNA, increased IFN-epsilon synthesis, engagement of type I IFNRs, increased STAT1 expression and phosphorylation, and up-regulation of retinoic acid-inducible gene-I expression, [RefSeq, PubMed]; The structue and mRNA expression pattern of IFN-epsilon1 suggest that it may have a function distinct from those other members of type I INF., [RefSeq, PubMed]; Type I interferon required for maintaining basal levels of IFN-regulated genes, including 2'-5'-oligoadenylate synthetase, IRF7 and ISG15, in the female reproductive tract. Directly mediates protection against viral and bacterial genital infections (By similarity)., [UniProtKB]; Upregulation of IFNE in cervical biopsies of patients with high-risk human papillomavirus infections., [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": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0005125 cytokine activity;GO:0005132 type I interferon receptor binding", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0002312 B cell activation involved in immune response;GO:0051607 defense response to virus;GO:0060337 type I interferon-mediated signaling pathway;GO:0002250 adaptive immune response;GO:0043330 response to exogenous dsRNA", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q86WN2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IU54-1", "uniprot_id": [ { "id": "IFNL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IU54", "type": "external" } ], "mass": 21898.0, "length": 200, "protein_name": "Interferon lambda-1", "gene_name": "IFNL1", "organism": "Human", "refseq_name": "interferon lambda-1 precursor", "refseq_ac": [ { "id": "NP_742152", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_742152", "type": "external" } ], "gene_names_uniprotkb": "IFNL1; IL29; ZCYTO21", "gene_names_refseq": "IFNL1; IL-29; IL29", "protein_names_uniprotkb": "Interferon lambda-1; Cytokine Zcyto21; IFN-lambda-1; IL-29; Interleukin-29", "protein_names_refseq": "IFN-lambda-1; cytokine Zcyto21; interferon lambda-1 precursor; interleukin 29 (interferon, lambda 1); interleukin-29", "tax_id": 9606, "disease": "COVID-19 (Disease Ontology:DOID:0080600); dengue disease (Disease Ontology:DOID:12205); dengue hemorrhagic fever (Disease Ontology:DOID:12206); hepatitis C (Disease Ontology:DOID:1883); asthma (Disease Ontology:DOID:2841); HTLV-1-associated myelopathy/tropical spastic paraparesis (Disease Ontology:DOID:321); hepatocellular carcinoma (Disease Ontology:DOID:684); subacute sclerosing panencephalitis (Disease Ontology:DOID:8970)", "pathway": " (hsa:282618); (R-HSA-449836); (R-HSA-8854691)", "pathway_count": 3, "publication_count": 66, "publication_id_list": "10395686;10438516;10875937;11163236;11196675;11390453;11390454;11481447;11564763;11706020;12087100;12351624;12469119;12483210;12558796;14580208;14764663;15120653;15166220;15178681;15850793;15899585;15919823;16488976;16492764;1662392;16750817;16982608;17878297;18467591;18599299;18669613;18830264;18941194;19457860;19535621;20462497;20671117;20712453;20934432;20966397;21098725;2147944;21716315;22802649;22962576;23291588;23744080;24751921;25004819;25662098;26095744;27133025;28458652;35051231;36537334;36635158;38271827;38281234;38700885;7512451;7543512;7615501;7805849;8830676;9422780", "class_list": "", "function": "Closely positioned genes on human chromosome 19 encode distinct but paralogous proteins, which we designate interferon-lambda1 (IFN-lambda1), IFN-lambda2 and IFN-lambda3, [RefSeq, PubMed]; Coinfection with respiratory syncytial virus and rhinovirus increases IFN-lambda1 and CXCL10 expression in human primary bronchial epithelial cells., [RefSeq, PubMed]; Cytokine with antiviral, antitumour and immunomodulatory activities. Plays a critical role in the antiviral host defense, predominantly in the epithelial tissues. Acts as a ligand for the heterodimeric class II cytokine receptor composed of IL10RB and IFNLR1, and receptor engagement leads to the activation of the JAK/STAT signaling pathway resulting in the expression of IFN-stimulated genes (ISG), which mediate the antiviral state. Has a restricted receptor distribution and therefore restricted targets: is primarily active in epithelial cells and this cell type-selective action is because of the epithelial cell-specific expression of its receptor IFNLR1. Exerts an immunomodulatory effect by up-regulating MHC class I antigen expression., [UniProtKB]; Enhanced production of interleukin-29 and related genes are associated with T helper 1 cell parameters in patients with type 2 diabetes mellitus., [RefSeq, PubMed]; IFNL1 rs30461 polymorphism as a risk factor for COVID-19 severity: A cross-sectional study., [RefSeq, PubMed]; IL-28A and IL-29 induced mRNA expression of the antiviral proteins 2',5'-OAS and MxA was abolished by overexpression of SOCS-1, [RefSeq, PubMed]; IL-29 antiviral and antiproliferative activity requires interleukin (IL)-28 receptor tyrosine residues, [RefSeq, PubMed]; Identified from the human genomic sequence a family of three cytokines, designated interleukin 28A (IL-28A), IL-28B and IL-29, that are distantly related to type I interferons (IFNs) and the IL-10 family, [RefSeq, PubMed]; Interleukin-29 Accelerates Vascular Calcification via JAK2/STAT3/BMP2 Signaling., [RefSeq, PubMed]; This gene encodes a cytokine distantly related to type I interferons and the IL-10 family. This gene, interleukin 28A (IL28A), and interleukin 28B (IL28B) are three closely related cytokine genes that form a cytokine gene cluster on a chromosomal region mapped to 19q13. Expression of the cytokines encoded by the three genes can be induced by viral infection. All three cytokines have been shown to interact with a heterodimeric class II cytokine receptor that consists of interleukin 10 receptor, beta (IL10RB) and interleukin 28 receptor, alpha (IL28RA). [provided by RefSeq, Jul 2008]., [RefSeq]; Up and away with cervical cancer: IL-29 is a promising cytokine for immunotherapy of cervical cancer due to its powerful upregulation of p18, p27, and TRAILR1. Publication Status: Online-Only, [RefSeq, PubMed]; We found IL-28A and IL-29 act similarly to IFNs, but are less effective generally and have activity in a more limited range of cell lines, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 8, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A0AV25;Q17R34", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005125 cytokine activity;GO:0032003 interleukin-28 receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0032002 interleukin-28 receptor complex", "go_biological_process": "GO:0032714 negative regulation of interleukin-5 production;GO:0008285 negative regulation of cell population proliferation;GO:0045087 innate immune response;GO:0051607 defense response to virus;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q8IU54-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IZJ0-1", "uniprot_id": [ { "id": "IFNL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IZJ0", "type": "external" } ], "mass": 22288.0, "length": 200, "protein_name": "Interferon lambda-2", "gene_name": "IFNL2", "organism": "Human", "refseq_name": "interferon lambda-2 precursor", "refseq_ac": [ { "id": "NP_742150", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_742150", "type": "external" } ], "gene_names_uniprotkb": "IFNL2; IL28A; ZCYTO20", "gene_names_refseq": "IFNL2a; IFNL2; IFNL3a; IL-28A; IL28A", "protein_names_uniprotkb": "Interferon lambda-2; Cytokine Zcyto20; IFN-lambda-2; IL-28A; Interleukin-28A", "protein_names_refseq": "IFN-lambda-2; cytokine Zcyto20; interferon lambda-2 precursor; interleukin 28A (interferon, lambda 2); interleukin-28A", "tax_id": 9606, "disease": "", "pathway": " (hsa:282616); (R-HSA-8854691)", "pathway_count": 2, "publication_count": 53, "publication_id_list": "10875937;11163236;11196675;11390453;11390454;11481447;11564763;11706020;12087100;12351624;12469119;12483210;14580208;14764663;15120653;15166220;15178681;15850793;15899585;15919823;16051921;16146571;16539846;1662392;16750817;16982608;17878297;18599299;18669613;18830264;18941194;19457860;19535621;20462497;20671117;20712453;20966397;21098725;22802649;22962576;24751921;25004819;27133025;28458652;32938616;33885337;34899713;35361913;35816926;36336888;7512451;7543512;8830676", "class_list": "", "function": "Assessment of serum interleukin-28 as a biomarker to predict mortality in traumatic patients with sepsis., [RefSeq, PubMed]; Closely positioned genes on human chromosome 19 encode distinct but paralogous proteins, which we designate interferon-lambda1 (IFN-lambda1), IFN-lambda2 and IFN-lambda3, [RefSeq, PubMed]; Congenital Zika Syndrome Is Associated With Interferon Alfa Receptor 1. Publication Status: Online-Only, [RefSeq, PubMed]; Cytokine with antiviral, antitumour and immunomodulatory activities. Plays a critical role in the antiviral host defense, predominantly in the epithelial tissues. Acts as a ligand for the heterodimeric class II cytokine receptor composed of IL10RB and IFNLR1, and receptor engagement leads to the activation of the JAK/STAT signaling pathway resulting in the expression of IFN-stimulated genes (ISG), which mediate the antiviral state. Has a restricted receptor distribution and therefore restricted targets: is primarily active in epithelial cells and this cell type-selective action is because of the epithelial cell-specific expression of its receptor IFNLR1. Seems not to be essential for early virus-activated host defense in vaginal infection, but plays an important role in Toll-like receptor (TLR)-induced antiviral defense. Plays a significant role in the antiviral immune defense in the intestinal epithelium. Exerts an immunomodulatory effect by up-regulating MHC class I antigen expression., [UniProtKB, PubMed, PubMed, PubMed]; IECs express functional receptors for IFN-lambdas, which mediate antiviral and antiproliferative signals in IECs, suggesting a potential for therapeutic use in certain viral infections and as (antiproliferative) anticancer therapy, [RefSeq, PubMed]; IL-28A and IL-29 induced mRNA expression of the antiviral proteins 2',5'-OAS and MxA was abolished by overexpression of SOCS-1, [RefSeq, PubMed]; Identified from the human genomic sequence a family of three cytokines, designated interleukin 28A (IL-28A), IL-28B and IL-29, that are distantly related to type I interferons (IFNs) and the IL-10 family, [RefSeq, PubMed]; Linkage of Lambda Interferons in Protection Against Severe COVID-19., [RefSeq, PubMed]; Lower level of IL-28A as a predictive index of the artificial liver support system in effective treatment of patients with HBV-ACLF., [RefSeq, PubMed]; Serum IL-28A/IFN-lambda2 is linked to disease severity of COVID-19. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a cytokine distantly related to type I interferons and the IL-10 family. This gene, interleukin 28B (IL28B), and interleukin 29 (IL29) are three closely related cytokine genes that form a cytokine gene cluster on a chromosomal region mapped to 19q13. Expression of the cytokines encoded by the three genes can be induced by viral infection. All three cytokines have been shown to interact with a heterodimeric class II cytokine receptor that consists of interleukin 10 receptor, beta (IL10RB) and interleukin 28 receptor, alpha (IL28RA). [provided by RefSeq, Jul 2008]., [RefSeq]; We found IL-28A and IL-29 act similarly to IFNs, but are less effective generally and have activity in a more limited range of cell lines, [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": "Q45KQ8;Q6VN55;Q8IWL7", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005125 cytokine activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0045087 innate immune response;GO:0051607 defense response to virus;GO:0098586 cellular response to virus;GO:0050778 positive regulation of immune response;GO:0002385 mucosal immune response", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q8IZJ0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q93033-1", "uniprot_id": [ { "id": "IGSF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q93033", "type": "external" } ], "mass": 115109.0, "length": 1021, "protein_name": "Immunoglobulin superfamily member 2", "gene_name": "CD101", "organism": "Human", "refseq_name": "immunoglobulin superfamily member 2 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001243035", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243035", "type": "external" } ], "gene_names_uniprotkb": "CD101; EWI101; IGSF2; V7", "gene_names_refseq": "CD101; EWI-101; IGSF2; V7", "protein_names_uniprotkb": "Immunoglobulin superfamily member 2; Cell surface glycoprotein V7; EWI-101; Glu-Trp-Ile EWI motif-containing protein 101; IgSF2", "protein_names_refseq": "cell surface glycoprotein V7; glu-Trp-Ile EWI motif-containing protein 101; immunoglobulin superfamily member 2 isoform 1 precursor; immunoglobulin superfamily member 2; leukocyte surface protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:9398); (R-HSA-202433)", "pathway_count": 2, "publication_count": 50, "publication_id_list": "10.1101/2023.09.13.557529;10671560;10692025;10747096;10811803;11048639;11093127;11390650;11504738;11607830;11752630;14510693;15737213;17652306;24190977;25880248;26813346;27888582;28218747;28649982;28832583;28904123;29108000;29242379;29557506;31844290;32157095;32265295;32350084;32357974;32387766;32976203;32983136;33912179;34195685;34357683;35051231;35580925;36284347;37074911;7565724;7722299;7722300;8798379;8824201;9115214;9233604;9389317;9647226;9846482", "class_list": "", "function": "Brief Report: Bacterial Vaginosis and Risk of HIV Infection in the Context of CD101 Gene Variation. Erratum:[J Acquir Immune Defic Syndr. 2021 Mar 1;86(3):387. doi: 10.1097/QAI.0000000000002607. PMID: 33560747], [RefSeq, PubMed]; CD101 genetic variants modify regulatory and conventional T cell phenotypes and functions. Publication Status: Online-Only, [RefSeq, PubMed]; In patients with intestinal bowel disease, a reduced CD101 expression on peripheral and intestinal monocytes and CD4-positive Tcells correlated with enhanced IL-17 production and disease activity., [RefSeq, PubMed]; Plays a role as inhibitor of T-cells proliferation induced by CD3. Inhibits expression of IL2RA on activated T-cells and secretion of IL2. Inhibits tyrosine kinases that are required for IL2 production and cellular proliferation. Inhibits phospholipase C-gamma-1/PLCG1 phosphorylation and subsequent CD3-induced changes in intracellular free calcium. Prevents nuclear translocation of nuclear factor of activated T-cell to the nucleus. Plays a role in the inhibition of T-cell proliferation via IL10 secretion by cutaneous dendritic cells. May be a marker of CD4(+) CD56(+) leukemic tumor cells., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Study shows nucleotide substitutions in CD101, the human homolog of a diabetes susceptibility gene in non-obese diabetic mouse, in patients with type 1 diabetes. The results raise the possibility that CD101 is a susceptibility gene for type 1 diabetes., [RefSeq, PubMed]; Variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1 Erratum:[PLoS Pathog. 2019 Feb 11;15(2):e1007588. doi: 10.1371/journal.ppat.1007588. PMID: 30742678] 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": 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": 36, "reported_interactions": 0, "missing_score": 9641, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q15856", "ec_number_list": [], "go_molecular_function": "GO:0016812 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q93033-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HBE5-1", "uniprot_id": [ { "id": "IL21R_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HBE5", "type": "external" } ], "mass": 59130.0, "length": 538, "protein_name": "Interleukin-21 receptor", "gene_name": "IL21R", "organism": "Human", "refseq_name": "interleukin-21 receptor isoform 1 precursor", "refseq_ac": [ { "id": "NP_068570", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068570", "type": "external" } ], "gene_names_uniprotkb": "IL21R; NILR; PRO10273", "gene_names_refseq": "CD360; IL21R; IMD56; NILR", "protein_names_uniprotkb": "Interleukin-21 receptor; IL-21 receptor; IL-21R; Novel interleukin receptor", "protein_names_refseq": "IL-21 receptor; interleukin-21 receptor isoform 1 precursor; novel interleukin receptor", "tax_id": 9606, "disease": "inflammatory bowel disease (Disease Ontology:DOID:0050589); diffuse large B-cell lymphoma (Disease Ontology:DOID:0050745); immunodeficiency 56 (Disease Ontology:DOID:0111982); common variable immunodeficiency (Disease Ontology:DOID:12177); Behcet's disease (Disease Ontology:DOID:13241); temporal arteritis (Disease Ontology:DOID:13375); multiple sclerosis (Disease Ontology:DOID:2377); atopic dermatitis (Disease Ontology:DOID:3310); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); B-cell lymphoma (Disease Ontology:DOID:707); Crohn's disease (Disease Ontology:DOID:8778); systemic lupus erythematosus (Disease Ontology:DOID:9074)", "pathway": " (hsa:50615); (R-HSA-9020958)", "pathway_count": 2, "publication_count": 80, "publication_id_list": "11016959;11081504;11237011;11418623;11821949;12093291;12244150;12517932;12700598;12759422;12975309;15340161;18292551;18507432;18512783;22235133;22645359;23440042;23481700;23719902;24715725;25418920;25502872;25576301;26154972;26375851;27774606;27846572;27920218;28218747;28228285;28467828;28832583;28871256;28904123;29242379;29314611;29437277;29508533;29557506;29632711;30315122;30410026;30573663;30626607;31092671;31217245;31530632;31844290;31937595;31998317;32157095;32161166;32350084;32357974;32502341;32938616;32983136;33043033;33091337;33141586;33298915;33392160;33592498;33633747;33717175;33912179;33936100;34078123;34357683;34433824;34932366;35051231;35154160;35251023;35494241;37243939;37713154;38720319;38723244", "class_list": "", "function": "ChIP-seq analysis found IL21R, a target gene of GTF2I-the susceptibility gene for primary biliary cholangitis in Chinese Han., [RefSeq, PubMed]; IL21R hypomethylation as a biomarker for distinguishing benign and malignant breast tumours., [RefSeq, PubMed]; Interleukin-21 receptor gene polymorphism (rs2285452 A/G) is associated with susceptibility to Behcet's disease., [RefSeq, PubMed]; Interleukin-21 receptor signaling promotes metabolic dysfunction-associated steatohepatitis-driven hepatocellular carcinoma by inducing immunosuppressive IgA[+] B cells. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The protein encoded by this gene is a cytokine receptor for interleukin 21 (IL21). It belongs to the type I cytokine receptors, and has been shown to form a heterodimeric receptor complex with the common gamma-chain, a receptor subunit also shared by the receptors for interleukin 2, 4, 7, 9, and 15. This receptor transduces the growth promoting signal of IL21, and is important for the proliferation and differentiation of T cells, B cells, and natural killer (NK) cells. The ligand binding of this receptor leads to the activation of multiple downstream signaling molecules, including JAK1, JAK3, STAT1, and STAT3. Knockout studies of a similar gene in mouse suggest a role for this gene in regulating immunoglobulin production. Three alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]., [RefSeq]; This is a receptor for interleukin-21., [UniProtKB]", "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": 2, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 1, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 2, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 2, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 3, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 33, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 12, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A8K9E8;D3DWF7;Q96HZ1;Q9HB91", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0004896 cytokine receptor activity;GO:0001532 interleukin-21 receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0019221 cytokine-mediated signaling pathway;GO:0030101 natural killer cell activation;GO:0016064 immunoglobulin mediated immune response;GO:0007259 cell surface receptor signaling pathway via JAK-STAT", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "Q9HBE5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1010000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P266-1", "uniprot_id": [ { "id": "JCAD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P266", "type": "external" } ], "mass": 148351.0, "length": 1359, "protein_name": "Junctional cadherin 5-associated protein", "gene_name": "JCAD", "organism": "Human", "refseq_name": "junctional cadherin 5-associated protein isoform 1", "refseq_ac": [ { "id": "NP_065899", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065899", "type": "external" } ], "gene_names_uniprotkb": "JCAD; KIAA1462", "gene_names_refseq": "JCAD; KIAA1462", "protein_names_uniprotkb": "Junctional cadherin 5-associated protein; JCAD; Junctional protein associated with coronary artery disease", "protein_names_refseq": "junctional cadherin 5-associated protein isoform 1; junctional cadherin 5-associated protein; junctional protein associated with coronary artery disease", "tax_id": 9606, "disease": "", "pathway": " (hsa:57608)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "18452278;18691976;19204726;19413330;20058876;21088011;23301498;24275569;24349219;24714562;24715725;27862975;29557506;29794114;30379171;30429286;31154438;31530632;31539914;31584065;31844290;31848261;32157095;32387766;32938616;32983136;33981976;35051231;35580925;36469488;37938771;38190829;38253038", "class_list": "", "function": "A key role for the novel coronary artery disease gene JCAD in atherosclerosis via shear stress mechanotransduction., [RefSeq, PubMed]; JCAD deficiency attenuates activation of hepatic stellate cells and cholestatic fibrosis., [RefSeq, PubMed]; JCAD negatively regulates Hippo signaling in endothelial cells and contributes to atherosclerosis by regulating YAP activity and endothelial dysfunction., [RefSeq, PubMed]; JCAD promotes arterial thrombosis through PI3K/Akt modulation: a translational study. Erratum:[Eur Heart J. 2023 May 21;44(20):1843. doi: 10.1093/eurheartj/ehad174. PMID: 37171028], [RefSeq, PubMed]; KIAA1462 gene encodes a yet uncharacterized protein, on chromosome 10p11.23 with genome-wide significant association for CAD/MI GeneRIF: Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Results in this study identify the KIAA1462 locus as a candidate locus for late onset Alzheimer disease in APOE4 carriers. Publication Status: Online-Only, [RefSeq, PubMed]; The novel coronary artery disease risk gene JCAD/KIAA1462 promotes endothelial dysfunction and atherosclerosis., [RefSeq, PubMed]; This gene encodes an endothelial cell-to-cell junction protein. Naturally occurring mutations in this gene are associated with coronary artery disease, late onset alzheimer disease, and emphysema distribution. [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": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 48, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5HYA7;Q5T992;Q86WZ9;Q9BYJ2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005912 adherens junction;GO:0048471 perinuclear region of cytoplasm;GO:0032587 ruffle membrane", "go_biological_process": "GO:1903672 positive regulation of sprouting angiogenesis;GO:0007155 cell adhesion;GO:0043410 positive regulation of MAPK cascade;GO:0090050 positive regulation of cell migration involved in sprouting angiogenesis;GO:1900748 positive regulation of vascular endothelial growth factor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q9P266-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y366-1", "uniprot_id": [ { "id": "IFT52_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y366", "type": "external" } ], "mass": 49706.0, "length": 437, "protein_name": "Intraflagellar transport protein 52 homolog", "gene_name": "IFT52", "organism": "Human", "refseq_name": "intraflagellar transport protein 52 homolog isoform 1", "refseq_ac": [ { "id": "NP_001290387", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290387", "type": "external" } ], "gene_names_uniprotkb": "IFT52; C20orf9; CGI-53; NGD5", "gene_names_refseq": "C20orf9; CGI-53; IFT52; NGD2; NGD5", "protein_names_uniprotkb": "Intraflagellar transport protein 52 homolog; Protein NGD5 homolog", "protein_names_refseq": "intraflagellar transport protein 52 homolog isoform 1; intraflagellar transport protein 52 homolog; protein NGD5 homolog", "tax_id": 9606, "disease": "asphyxiating thoracic dystrophy (Disease Ontology:DOID:0050592); short-rib thoracic dysplasia 16 with or without polydactyly (MONDO:MONDO:0014915)", "pathway": " (hsa:51098); (R-HSA-5610787); (R-HSA-5620924)", "pathway_count": 3, "publication_count": 161, "publication_id_list": "10069812;10966113;11285270;11375483;12192414;12435627;12795688;14603322;15087129;15231740;15269286;15489852;15523559;15930098;15955805;16049494;16061793;16136078;16229832;16254602;16311594;16339192;16396903;16435301;16492809;16493421;16707575;16775004;16782012;17027958;17200122;17312020;17314406;17442700;17553904;17574030;17641202;17762891;17960137;18180368;18304522;18327258;18364699;18369462;18455992;18832070;18852297;19000668;19112494;19147001;19196978;19223390;19253336;19286674;19365551;19384852;19450523;19549984;19592253;19666503;19720863;19767740;19776033;19805633;19877275;19906846;19948480;19996169;20067783;20154143;20207148;20395968;20412786;20435895;20460306;20526327;20526328;20530210;20844016;20889716;20956384;2105456;21209331;21427764;21695114;21801010;21936775;22007132;22118932;22231273;22391300;22922713;22992454;23209152;23332756;23719536;23945166;23990561;24140113;24296415;24302888;24339784;24596149;24616010;24714562;24845016;24863049;24917297;24925320;24952464;25205765;25349261;25443296;25860617;26880018;26992070;27466190;27920218;28218747;28834231;28904123;29242379;29393594;29437277;29508533;29557506;30779550;30833945;30929735;31154438;31637240;31844290;32157095;32265295;32350084;32357974;32387766;32502341;32897882;32938616;33392160;33537174;33691108;33717175;33912179;33936100;33968037;34185709;35051231;35580925;35704471;35839863;36010968;37938771;38272449;8516294;8522608;9114011;9585416;9585417;9852153", "class_list": "", "function": "Involved in ciliogenesis as part of a complex involved in intraflagellar transport (IFT), the bi-directional movement of particles required for the assembly, maintenance and functioning of primary cilia (PubMed:27466190). Required for the anterograde transport of IFT88 (PubMed:27466190)., [UniProtKB, PubMed]; Molecular basis underlying the ciliary defects caused by IFT52 variations found in skeletal ciliopathies., [RefSeq, PubMed]; The data identify a new locus for short-rib polydactyly syndromes (SRPS) and show that IFT52 mutations result in a ciliopathy with primary effects on the skeleton., [RefSeq, PubMed]; The emerging functions of intraflagellar transport 52 in ciliary transport and ciliopathies. Review article, [RefSeq, PubMed]; The intraflagellar transport protein IFT52 associated with short-rib thoracic dysplasia is essential for ciliary function in osteogenic differentiation in vitro and for sensory perception in Drosophila., [RefSeq, PubMed]; This gene encodes a conserved proline-rich protein that is a component of the intraflagellar transport-B (IFT-B) core complex. The encoded protein is essential for the integrity of the IFT-B core complex, and for biosynthesis and maintenance of cilia. Mutations in this gene are associated with ciliopathy that affects the skeleton. [provided by RefSeq, Oct 2016]., [RefSeq]; Whole-exome sequencing revealed a homozygous nonsense variant p.R142* in IFT52 encoding an IFT-B core complex protein as the probable cause of her condition. This is the first report of a human disease associated with IFT52, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B3KMA1;E1P5W9;Q5H8Z0;Q9H1G3;Q9H1G4;Q9H1H2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005813 centrosome;GO:0005929 cilium;GO:0031514 motile cilium;GO:0005814 centriole;GO:0036064 ciliary basal body", "go_biological_process": "GO:0060271 cilium assembly;GO:0042073 intraciliary transport;GO:0035720 intraciliary anterograde transport", "synthesized_glycan_count": 0, "hit_score": 16.2, "record_id": "Q9Y366-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P56199-1", "uniprot_id": [ { "id": "ITA1_HUMAN", "url": "https://www.uniprot.org/uniprot/P56199", "type": "external" } ], "mass": 130848.0, "length": 1179, "protein_name": "Integrin alpha-1", "gene_name": "ITGA1", "organism": "Human", "refseq_name": "integrin alpha-1 precursor", "refseq_ac": [ { "id": "NP_852478", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_852478", "type": "external" } ], "gene_names_uniprotkb": "ITGA1", "gene_names_refseq": "CD49a; ITGA1; VLA1", "protein_names_uniprotkb": "Integrin alpha-1; CD49 antigen-like family member A; Laminin and collagen receptor; VLA-1", "protein_names_refseq": "CD49 antigen-like family member A; VLA-1; integrin alpha-1 precursor; integrin alpha-1; laminin and collagen receptor; very late activation protein 1; very late antigen-1", "tax_id": 9606, "disease": "breast cancer (Disease Ontology:DOID:1612)", "pathway": " (hsa:3672); (R-HSA-216083); (R-HSA-3000157); (R-HSA-416700); (R-HSA-445355); (R-HSA-447041); (R-HSA-75892)", "pathway_count": 7, "publication_count": 158, "publication_id_list": "37268159;10.1101/2023.09.13.557529;10209034;10366422;10438935;10455165;10520995;10543983;10593924;10605720;10640428;10648410;10673366;10713152;10811134;10982388;10991994;11054877;11114375;11158588;11237011;11242081;11457814;11518510;11532985;11572855;11713259;11889009;11943772;11964076;11980922;12048254;12237301;12496264;12585966;12682293;12807887;12882840;14506282;14627618;14660600;15218527;15240572;15330449;15345499;15377279;15383545;15550623;15592458;156362;15713743;1588291;15899827;16002701;16051604;16102042;16239428;16335952;16413178;16581764;16715077;16731529;16754661;16754960;16933105;17055381;17318185;17339034;17968485;18710925;18775695;18974361;19159218;1930128;19380584;1939645;19502598;20033473;20068231;2010551;20705068;22421042;22493504;22539938;22778174;22884367;23090970;23374253;23834404;24190977;24872348;2526655;26362469;2764880;27679490;27862975;28514659;28741090;28832583;29242379;29557506;29605689;29741879;29786170;30429286;31217245;31439947;32157095;32265295;32350084;32387766;32938616;33592498;33968037;34357683;34906278;35013194;35051231;35060996;35289036;35318648;35580925;36301458;36517525;37074911;37340703;3780718;38665916;3872140;3997977;7505120;7525578;7541634;7542249;7559467;7685013;8118028;8344274;8428973;8560266;8639781;8798654;8838667;8858389;8910476;8955171;9245798;9251239;9280292;9331419;9443892;9481611;9565552;9598563;9600334;9645947;9855623;9858236", "class_list": "", "function": "Erianin Controls Collagen-Mediated Retinal Angiogenesis via the RhoA/ROCK1 Signaling Pathway Induced by the alpha2/beta1 Integrin-Collagen Interaction., [RefSeq, PubMed]; Hsa_circ_0043949 reinforces temozolomide resistance via upregulating oncogene ITGA1 axis in glioblastoma., [RefSeq, PubMed]; Integrin alpha-1/beta-1 is a receptor for laminin and collagen. It recognizes the proline-hydroxylated sequence G-F-P-G-E-R in collagen. Involved in anchorage-dependent, negative regulation of EGF-stimulated cell growth., [UniProtKB, PubMed]; Nanofluorescence Probes to Detect miR-192/Integrin Alpha 1 and Their Correlations with Retinoblastoma., [RefSeq, PubMed]; The catalytic activity of TCPTP is auto-regulated by its intrinsically disordered tail and activated by Integrin alpha-1. Publication Status: Online-Only, [RefSeq, PubMed]; The effects of inhibition and siRNA knockdown of collagen-binding integrins on human umbilical vein endothelial cell migration and tube formation. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes the alpha 1 subunit of integrin receptors. This protein heterodimerizes with the beta 1 subunit to form a cell-surface receptor for collagen and laminin. The heterodimeric receptor is involved in cell-cell adhesion and may play a role in inflammation and fibrosis. The alpha 1 subunit contains an inserted (I) von Willebrand factor type I domain which is thought to be involved in collagen binding. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 9, "predicted_n_glycosites": 9, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 15, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 17, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 17, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 83, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 114, "disease_count": 1, "glyco_site_count": 29, "binding_glycan_count": 0, "secondary_ac_list": "B2RNU0", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0046872 metal ion binding;GO:0005518 collagen binding;GO:0019903 protein phosphatase binding;GO:0019211 phosphatase activator activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0009986 cell surface;GO:0016020 membrane;GO:0043204 perikaryon", "go_biological_process": "GO:0007229 integrin-mediated signaling pathway;GO:0008285 negative regulation of cell population proliferation;GO:0043410 positive regulation of MAPK cascade;GO:0042311 vasodilation;GO:0048812 neuron projection morphogenesis", "synthesized_glycan_count": 0, "hit_score": 29.3, "record_id": "P56199-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q01101-1", "uniprot_id": [ { "id": "INSM1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q01101", "type": "external" } ], "mass": 52923.0, "length": 510, "protein_name": "Insulinoma-associated protein 1", "gene_name": "INSM1", "organism": "Human", "refseq_name": "insulinoma-associated protein 1", "refseq_ac": [ { "id": "NP_002187", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002187", "type": "external" } ], "gene_names_uniprotkb": "INSM1; IA1", "gene_names_refseq": "IA-1; IA1; INSM1", "protein_names_uniprotkb": "Insulinoma-associated protein 1; Zinc finger protein IA-1", "protein_names_refseq": "insulinoma-associated 1; insulinoma-associated protein 1; zinc finger protein IA-1", "tax_id": 9606, "disease": "brain cancer (Disease Ontology:DOID:1319)", "pathway": " (hsa:3642); (R-HSA-210746)", "pathway_count": 2, "publication_count": 19, "publication_id_list": "11842116;12403815;12890672;1634555;16511571;16569215;18417529;19124461;19246490;23721412;31844290;34087483;36245222;36305944;36531655;36563884;37938771;38171081;8188699", "class_list": "", "function": "Extraskeletal myxoid chondrosarcoma: A study of 17 cases focusing on the diagnostic utility of INSM1 expression and presenting rare morphological variants associated with non-EWSR1::NR4A3 fusions., [RefSeq, PubMed]; INSM1 Expression in Mesenchymal Tumors and Its Clinicopathological Significance. Publication Status: Online-Only, [RefSeq, PubMed]; INSM1 expression in primary and metastatic neuroendocrine neoplasms at distinct locations., [RefSeq, PubMed]; Immunosensitivity and specificity of insulinoma-associated protein 1 (INSM1) for neuroendocrine neoplasms of the uterine cervix., [RefSeq, PubMed]; Insulinoma-associated 1 (INSM1) gene is intronless and encodes a protein containing both a zinc finger DNA-binding domain and a putative prohormone domain. This gene is a sensitive marker for neuroendocrine differentiation of human lung tumors. [provided by RefSeq, Jul 2008]., [RefSeq]; Insulinoma-associated-1 (INSM1) expression in thymic squamous cell carcinoma., [RefSeq, PubMed]; Sequence-specific DNA-binding transcriptional regulator that plays a key role in neurogenesis and neuroendocrine cell differentiation during embryonic and/or fetal development. Binds to the consensus sequence 5'-[TG][TC][TC][TT][GA]GGG[CG]A-3' in target promoters. Acts as a transcriptional repressor of NEUROD1 and INS expression via its interaction with cyclin CCND1 in a cell cycle-independent manner. Negatively regulates skeletal muscle-specific gene expression in endocrine cells of the pituitary by inhibiting the Notch signaling pathway. Represses target gene transcription by recruiting chromatin-modifying factors, such as HDAC1, HDAC2, HDAC3, KDM1A and RCOR1 histone deacetylases. Binds to its own promoter, suggesting autoregulation as a self-control feedback mechanism. Competes with histone H3 for the same binding site on the histone demethylase complex formed by KDM1A and RCOR1, and thereby inhibits demethylation of histone H3 at 'Lys-4' (PubMed:23721412). Promotes the generation and expansion of neuronal basal progenitor cells in the developing neocortex. Involved in the differentiation of endocrine cells of the developing anterior pituitary gland, of the pancreas and intestine, and of sympatho-adrenal cells in the peripheral nervous system. Promotes cell cycle signaling arrest and inhibition of cellular proliferation., [UniProtKB, PubMed, 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0042826 histone deacetylase binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0017053 transcription repressor complex", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0008285 negative regulation of cell population proliferation;GO:0001933 negative regulation of protein phosphorylation;GO:0045597 positive regulation of cell differentiation", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q01101-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2M1V0-1", "uniprot_id": [ { "id": "ISX_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2M1V0", "type": "external" } ], "mass": 27011.0, "length": 245, "protein_name": "Intestine-specific homeobox", "gene_name": "ISX", "organism": "Human", "refseq_name": "intestine-specific homeobox", "refseq_ac": [ { "id": "NP_001290437", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290437", "type": "external" } ], "gene_names_uniprotkb": "ISX; RAXLX", "gene_names_refseq": "ISX; Pix-1; RAXLX", "protein_names_uniprotkb": "Intestine-specific homeobox; RAX-like homeobox", "protein_names_refseq": "RAX-like homeobox; intestine-specific homeobox; pancreas-intestine homeodomain transcription factor", "tax_id": 9606, "disease": "", "pathway": " (hsa:91464)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "23221382;23393141;26872890;28625979;31844290;34173348;34265398;37349365", "class_list": "", "function": "Genetics and diet regulate vitamin A production via the homeobox transcription factor ISX, [RefSeq, PubMed]; Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the RAXLX homeobox gene family. [provided by RefSeq, Jul 2008]., [RefSeq]; ISX expression induced by H. pylori infection may lead to intestinal metaplasia and hyperproliferation of gastric mucosa through CDX1/2 and cyclinD1 expression, contributing to gastric carcinogenesis., [RefSeq, PubMed]; Impact of bromodomain-containing protein 4 (BRD4) and intestine-specific homeobox (ISX) expression on the prognosis of patients with hepatocellular carcinoma' for better clarity., [RefSeq, PubMed]; Interaction between retinol intake and ISX rs5755368 polymorphism in colorectal cancer risk: a case-control study in a Korean population. Publication Status: Online-Only, [RefSeq, PubMed]; Our results highlight ISX as an important regulator in hepatoma progression with significant potential as a prognostic and therapeutic target in HCCs., [RefSeq, PubMed]; Overall, our results identified a feed-forward mechanism of immune suppression in hepatocellular carcinoma organized by ISX, which involves kynurenine-AHR signaling and PD-L1, offering insights into immune escape by hepatocellular carcinoma, [RefSeq, PubMed]; Phosphorylation of intestine-specific homeobox by ERK1 modulates oncogenic activity and sorafenib resistance., [RefSeq, PubMed]; Transcription factor that regulates gene expression in intestine. May participate in vitamin A metabolism most likely by regulating BCO1 expression in the intestine (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": 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": "Q68DJ5", "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:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016604 nuclear body;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0048666 neuron development", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q2M1V0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P9B9-1", "uniprot_id": [ { "id": "INT5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P9B9", "type": "external" } ], "mass": 107995.0, "length": 1019, "protein_name": "Integrator complex subunit 5", "gene_name": "INTS5", "organism": "Human", "refseq_name": "integrator complex subunit 5", "refseq_ac": [ { "id": "NP_085131", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_085131", "type": "external" } ], "gene_names_uniprotkb": "INTS5; KIAA1698", "gene_names_refseq": "INT5; INTS5; KIAA1698", "protein_names_uniprotkb": "Integrator complex subunit 5; Int5", "protein_names_refseq": "integrator complex subunit 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:80789); (R-HSA-6807505)", "pathway_count": 2, "publication_count": 96, "publication_id_list": "10022900;11856838;12414730;12574128;14701755;15302935;1535687;16239144;16308568;16901896;1739980;18079403;1829677;18691976;19667075;20457598;2125285;22137580;22231121;22252320;22441827;23166507;23186163;23481700;23904267;23932780;24097444;24270878;24714562;24715725;24997600;25576301;25645385;25675981;26154972;26728094;26992070;27846572;27920218;28063628;28228285;28514659;28832583;28834231;29242379;29393594;2944599;29508533;29557506;29632046;29632711;29786170;30315122;30429286;30779550;31154438;31217245;31844290;31848261;31998317;32157095;32161166;32387766;32488085;32502341;32938616;33243860;33298915;33392160;33592498;33912179;33936100;33968037;34087483;34211107;34509645;34762484;35051231;35251023;35580925;36241641;36869814;38570683;38823386;39032490;7715707;8253082;8339931;8628262;8668525;9009278;9153304;9188510;9407024;9705341;9832505", "class_list": "", "function": "Component of the integrator complex, a multiprotein complex that terminates RNA polymerase II (Pol II) transcription in the promoter-proximal region of genes (PubMed:33243860, PubMed:38570683). The integrator complex provides a quality checkpoint during transcription elongation by driving premature transcription termination of transcripts that are unfavorably configured for transcriptional elongation: the complex terminates transcription by (1) catalyzing dephosphorylation of the C-terminal domain (CTD) of Pol II subunit POLR2A/RPB1 and SUPT5H/SPT5, (2) degrading the exiting nascent RNA transcript via endonuclease activity and (3) promoting the release of Pol II from bound DNA (PubMed:33243860, PubMed:38570683). The integrator complex is also involved in terminating the synthesis of non-coding Pol II transcripts, such as enhancer RNAs (eRNAs), small nuclear RNAs (snRNAs), telomerase RNAs and long non-coding RNAs (lncRNAs) (PubMed:16239144). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the integrator complex (PubMed:23904267)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The Integrator complex is a complex that associates with the C-terminal domain of RNA polymerase II large subunit. This complex is brought to U1 and U2 small nuclear RNA genes, where it is involved in the transcription and processing of their transcripts. The protein encoded by this gene represents a subunit of the Integrator complex. [provided by RefSeq, Aug 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q8N6W5;Q9C0G5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0034243 regulation of transcription elongation by RNA polymerase II;GO:0016180 snRNA processing;GO:0034472 snRNA 3'-end processing;GO:0160240 RNA polymerase II transcription initiation surveillance", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "Q6P9B9-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96PE3-1", "uniprot_id": [ { "id": "INP4A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96PE3", "type": "external" } ], "mass": 109956.0, "length": 977, "protein_name": "Inositol polyphosphate-4-phosphatase type I A", "gene_name": "INPP4A", "organism": "Human", "refseq_name": "inositol polyphosphate-4-phosphatase type I A isoform d", "refseq_ac": [ { "id": "NP_001127696", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127696", "type": "external" } ], "gene_names_uniprotkb": "INPP4A", "gene_names_refseq": "INPP4A; INPP4; NEDGQS; TVAS1", "protein_names_uniprotkb": "Inositol polyphosphate-4-phosphatase type I A; 3.1.3.66; Inositol polyphosphate 4-phosphatase type I; Type I inositol 3,4-bisphosphate 4-phosphatase", "protein_names_refseq": "inositol polyphosphate-4-phosphatase type I A isoform d; inositol polyphosphate-4-phosphatase, type I, 107kDa; inositol polyphosphate-4-phosphatase, type I, 107kD; type I inositol 3,4-bisphosphate 4-phosphatase", "tax_id": 9606, "disease": "neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech (MONDO:MONDO:0980699)", "pathway": " (hsa:3631); (R-HSA-1660499); (R-HSA-1660516); (R-HSA-1855183)", "pathway_count": 4, "publication_count": 169, "publication_id_list": "10194451;10224048;10419465;10555148;10559940;10593988;10753883;10766823;10805725;10822173;11001876;11084340;11237011;11279162;11302699;11349134;11485317;11604140;11676921;11706043;11733541;11877430;11923287;12101241;12118066;12324459;12422219;12536145;12646134;12808147;12847086;12847286;12890864;1377913;14516276;14617813;14660569;15024000;15080793;15107860;15135396;15464023;15474001;15504367;15592455;15716355;15797027;15840652;16154996;16399794;16476736;16522682;1655747;16787938;16914545;16979564;17008356;17068342;1718960;17245604;17556371;17651088;18093523;18364358;18524850;18753295;18950639;19038970;19690332;19896968;20463662;20534812;21081650;21204784;22037487;22647598;22706990;23186163;23481700;23519112;23758345;23818870;24714562;24715725;25495341;25576301;25645385;25869668;25892735;26375851;26496610;27846572;27862975;28133863;28228285;28832583;28834231;28855257;28904123;29242379;29351928;29393594;29508533;29557506;29786170;30071275;30315122;30335467;30379171;30429286;30833945;31154438;31524145;31530632;31844290;31848261;31978615;32157095;32387766;32488085;32502341;32897882;32938616;32983136;33109548;33141586;33298915;33592498;33717175;33912179;33968037;34171305;34932366;35051231;35580925;36010968;36241641;36653678;36759255;37217939;38363325;39315527;7608176;7624799;7628435;7721860;7761412;8006039;8390685;8681945;8723348;8769125;8999962;9094719;9113989;9211928;9286278;9295334;9367159;9428629;9430698;9514948;9516481;9524259;9593664;9660759;9660833;9811831;9830063", "class_list": "", "function": "Catalyzes the hydrolysis of the 4-position phosphate of phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) (PubMed:15716355, PubMed:20463662). Also catalyzes inositol 1,3,4-trisphosphate and inositol 1,4-bisphosphate (By similarity). Antagonizes the PI3K-AKT/PKB signaling pathway by dephosphorylating phosphoinositides and thereby modulating cell cycle progression and cell survival (By similarity) (PubMed:30071275). May protect neurons from excitotoxic cell death by regulating the synaptic localization of cell surface N-methyl-D-aspartate-type glutamate receptors (NMDARs) and NMDAR-mediated excitatory postsynaptic current (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB, PubMed, PubMed]; Deficiency of INPP4A promotes M2 macrophage polarization in eosinophilic chronic rhinosinusitis with nasal polyps., [RefSeq, PubMed]; Displays no 4-phosphatase activity for PtdIns(3,4)P2, Ins(3,4)P2, or Ins(1,3,4)P3., [UniProtKB, PubMed]; INPP4A is secreted by airway epithelial cells and extracellular INPP4A critically inhibits airway inflammation and remodeling., [RefSeq, PubMed]; Low INPP4A expression is associated with cell proliferation, migration, and invasion in colorectal cancer., [RefSeq, PubMed]; MiR-935 Inhibits Oral Squamous Cell Carcinoma and Targets Inositol Polyphosphate-4-phosphatase Type IA (INPP4A)., [RefSeq, PubMed]; This gene encodes an Mg++ independent enzyme that hydrolyzes the 4-position phosphate from the inositol ring of phosphatidylinositol 3,4-bisphosphate, inositol 1,3,4-trisphosphate, and inositol 3,4-bisphosphate. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Aug 2008]., [RefSeq]; Whole exome sequencing identified a novel nonsense INPP4A mutation in a family with intellectual disability., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 43, "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": "O15326;Q13187;Q53TD8;Q8TC02", "ec_number_list": [ { "id": "3.1.3.66", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.66", "type": "external" } ], "go_molecular_function": "GO:0017161 inositol-1,3,4-trisphosphate 4-phosphatase activity;GO:0052828 inositol-3,4-bisphosphate 4-phosphatase activity;GO:0016316 phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0006661 phosphatidylinositol biosynthetic process;GO:0043647 inositol phosphate metabolic process;GO:0044281 small molecule metabolic process", "synthesized_glycan_count": 0, "hit_score": 17.2, "record_id": "Q96PE3-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5E8-1", "uniprot_id": [ { "id": "PCDBF_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5E8", "type": "external" } ], "mass": 86329.0, "length": 787, "protein_name": "Protocadherin beta-15", "gene_name": "PCDHB15", "organism": "Human", "refseq_name": "protocadherin beta-15 precursor", "refseq_ac": [ { "id": "NP_061758", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061758", "type": "external" } ], "gene_names_uniprotkb": "PCDHB15", "gene_names_refseq": "PCDH-BETA15; PCDHB15", "protein_names_uniprotkb": "Protocadherin beta-15; PCDH-beta-15", "protein_names_refseq": "protocadherin beta-15 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:56121)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "10380929;11237011;11322959;16959974;19664995;29741879;31848261;32938616;33968037;33981976;35051231;36010968", "class_list": "", "function": "Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [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": 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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 40, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q8IUX5", "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:0032391 photoreceptor connecting cilium", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q9Y5E8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BVG4-1", "uniprot_id": [ { "id": "PBDC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BVG4", "type": "external" } ], "mass": 26057.0, "length": 233, "protein_name": "Protein PBDC1", "gene_name": "PBDC1", "organism": "Human", "refseq_name": "protein PBDC1 isoform 2", "refseq_ac": [ { "id": "NP_001287817", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287817", "type": "external" } ], "gene_names_uniprotkb": "PBDC1; CXorf26", "gene_names_refseq": "CXorf26; PBDC1", "protein_names_uniprotkb": "Protein PBDC1; Polysaccharide biosynthesis domain-containing protein 1", "protein_names_refseq": "UPF0368 protein Cxorf26; polysaccharide biosynthesis domain-containing protein 1; protein PBDC1 isoform 2; protein PBDC1", "tax_id": 9606, "disease": "", "pathway": " (hsa:51260)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "11237011;17525332;18318008;18507432;18669648;19651622;20166139;21406692;23186163;23301498;24275569;26375851;26992070;27846572;27920218;28228285;28832583;28834231;28904123;29242379;30315122;30429286;31844290;32157095;32357974;32983136;33968037;33981976;34087483;35051231;35561310", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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:0044183 protein folding chaperone", "go_cellular_component": "", "go_biological_process": "GO:0051083 'de novo' cotranslational protein folding", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q9BVG4-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NKN8-1", "uniprot_id": [ { "id": "PC4L1_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NKN8", "type": "external" } ], "mass": 7476.0, "length": 68, "protein_name": "Purkinje cell protein 4-like protein 1", "gene_name": "PCP4L1", "organism": "Human", "refseq_name": "Purkinje cell protein 4-like protein 1", "refseq_ac": [ { "id": "NP_001096036", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001096036", "type": "external" } ], "gene_names_uniprotkb": "PCP4L1; IQM1", "gene_names_refseq": "IQM1; PCP4L1", "protein_names_uniprotkb": "Purkinje cell protein 4-like protein 1; PCP4-like protein 1", "protein_names_refseq": "PCP4-like protein 1; Purkinje cell protein 4-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:654790)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "15053978;30620550", "class_list": "", "function": "Cloning and expression analysis of the mouse Pcp4l1 gene, and sequence comparison to human PCP4L1., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 4, "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": "B2RV24;B9EJG4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A6NKN8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95206-1", "uniprot_id": [ { "id": "PCDH8_HUMAN", "url": "https://www.uniprot.org/uniprot/O95206", "type": "external" } ], "mass": 113019.0, "length": 1070, "protein_name": "Protocadherin-8", "gene_name": "PCDH8", "organism": "Human", "refseq_name": "protocadherin-8 isoform 1 precursor", "refseq_ac": [ { "id": "NP_002581", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002581", "type": "external" } ], "gene_names_uniprotkb": "PCDH8", "gene_names_refseq": "ARCADLIN; PAPC; PCDH8", "protein_names_uniprotkb": "Protocadherin-8; Arcadlin", "protein_names_refseq": "protocadherin-8 isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:5100)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11230163;12884975;16959974;18767875;25505266;25576336;29242379;29325230;29557506;29865037;30315122;30779550;31217245;31844290;32330123;32983136;34357683;35580925;35907345;38368303;9787079", "class_list": "", "function": "Calcium-dependent cell-adhesion protein (By similarity). May play a role in activity-induced synaptic reorganization underlying long term memory (By similarity). Could be involved in CDH2 internalization through TAOK2/p38 MAPK pathway. In hippocampal neurons, may play a role in the down-regulation of dendritic spines, maybe through its action on CDH2 endocytosis (By similarity)., [UniProtKB]; PCDH8 is a novel prognostic biomarker in thyroid cancer and promotes cell proliferation and viability. Publication Status: Online-Only, [RefSeq, PubMed]; PCDH8 participates in the growth process of colorectal cancer cells by regulating the AKT/GSK3beta/beta-catenin signaling pathway., [RefSeq, PubMed]; Protocadherin 8 (PCDH8) Inhibits Proliferation, Migration, Invasion, and Angiogenesis in Esophageal Squamous Cell Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Serum downregulated miR-940 may serve as a reliable diagnostic and prognostic biomarker in breast cancer patients., [RefSeq, PubMed]; Study showed that high expression of PCDH8 was significantly correlated with poorer prognosis in gastric cancer (GC). Its ectopic expression in GC cells promoted invasion, migration and, metastasis; on the contrary, its knockdown inhibited invasion and migration of GC cell lines through LAMC2 regulation., [RefSeq, PubMed]; This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes an integral membrane protein that is thought to function in cell adhesion in a CNS-specific manner. Unlike classical cadherins, which are generally encoded by 15-17 exons, this gene includes only 3 exons. Notable is the large first exon encoding the extracellular region, including 6 cadherin domains and a transmembrane region. Alternative splicing yields isoforms with unique cytoplasmic tails. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 1, "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": 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": 30, "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": "B4DMV7;Q5TAN1;Q5TAN2;Q8IYE9;Q96SF1", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0030425 dendrite;GO:0045202 synapse;GO:0045211 postsynaptic membrane", "go_biological_process": "GO:0007267 cell-cell signaling;GO:0007268 chemical synaptic transmission;GO:0098609 cell-cell adhesion;GO:0050804 modulation of chemical synaptic transmission;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "O95206-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P16499-1", "uniprot_id": [ { "id": "PDE6A_HUMAN", "url": "https://www.uniprot.org/uniprot/P16499", "type": "external" } ], "mass": 99547.0, "length": 860, "protein_name": "Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha", "gene_name": "PDE6A", "organism": "Human", "refseq_name": "rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha isoform 1", "refseq_ac": [ { "id": "NP_000431", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000431", "type": "external" } ], "gene_names_uniprotkb": "PDE6A; PDEA", "gene_names_refseq": "CGPR-A; PDE6A; PDEA; RP43", "protein_names_uniprotkb": "Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha; 3.1.4.35; GMP-PDE alpha; PDE V-B1", "protein_names_refseq": "GMP-PDE alpha; PDE V-B1; cGMP phosphodiesterase alpha subunit; phosphodiesterase 6A, cGMP-specific, rod, alpha; retinitis pigmentosa type 43; rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha isoform 1; rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha; rod photoreceptor cGMP phosphodiesterase alpha subunit", "tax_id": 9606, "disease": "retinitis pigmentosa 43 (Disease Ontology:DOID:0110379); retinitis pigmentosa (Disease Ontology:DOID:10584)", "pathway": " (hsa:5145); (R-HSA-2485179); (R-HSA-2514859); (R-HSA-4086398)", "pathway_count": 4, "publication_count": 140, "publication_id_list": "10037746;10051575;10380924;10391246;10391247;10393062;10395542;10488343;10564809;10588714;10676965;10777564;10858654;11015615;11030334;11292825;11563835;11601986;11687658;11713293;11754336;12015605;12036349;12086864;12119397;12432397;12467591;12467592;12471263;12482967;12499365;12556497;12729560;12825937;12975316;1356371;1379636;1387789;1436039;14702087;14704854;14977528;15494017;15545263;15611108;15946941;1614872;16274222;16460277;16880514;16895762;16908407;16920709;17114291;1720239;1722240;17426020;17636946;17684012;18456304;18488142;18803695;19177143;19536106;19818506;19851316;1999465;20430952;20850105;20940301;20975703;21118996;2155175;2161380;21903638;22658984;22941947;23151663;23256519;23416699;23632248;23904219;2422346;2457685;2467600;2473195;2540796;2550422;2558719;2578616;26590425;2748346;2835761;2837463;2841328;29557506;3006923;3095147;30998820;3164688;31844290;33057649;34170501;34185709;35033039;35051231;35533076;36284347;3933561;4359491;4361997;4366891;4772407;6264430;6930647;7493036;7525588;7526403;7644482;7670478;7678445;7682292;7777544;7983048;8382952;8494894;8500562;8626439;8673138;8706659;8812493;8913594;9073455;9119368;9353336;9389482;9430683;9459445;9478004;9506952", "class_list": "", "function": "Catalytic alpha subunit of the rod-specific cGMP phosphodiesterase (PDE6) complex, which hydrolyzes 3',5'-cyclic GMP in the phototransduction cascade. The PDE6 holoenzyme consists of two catalytic subunits (PDE6A and PDE6B) and two inhibitory gamma subunits (PDE6G) (PubMed:20940301). Light-activated GNAT1 relieves gamma subunit-mediated inhibition, enabling the catalytic subunits to hydrolyze cGMP and thereby mediate visual signal transduction and amplification. Decreased cytosolic cGMP levels result in closure of cGMP-gated cation channels at the plasma membrane, leading to rod photoreceptor hyperpolarization (By similarity)., [UniProtKB, UniProtKB, PubMed]; Central Visual Function and Genotype-Phenotype Correlations in PDE6A-Associated Retinitis Pigmentosa., [RefSeq, PubMed]; Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial., [RefSeq, PubMed]; Mutations in PDE6A and PDE6B accounted for 1.6% and 2.4%, respectively, in a cohort of French patients with rod-cone dystrophy (RCD), [RefSeq, PubMed]; Novel variants in PDE6A and PDE6B genes and its phenotypes in patients with retinitis pigmentosa in Chinese families. Publication Status: Online-Only, [RefSeq, PubMed]; Photoreceptor Phosphodiesterase (PDE6): Structure, Regulatory Mechanisms, and Implications for Treatment of Retinal Diseases. Review article, [RefSeq, PubMed]; This gene encodes the cyclic-GMP (cGMP)-specific phosphodiesterase 6A alpha subunit, expressed in cells of the retinal rod outer segment. The phosphodiesterase 6 holoenzyme is a heterotrimer composed of an alpha, beta, and two gamma subunits. cGMP is an important regulator of rod cell membrane current, and its dynamic concentration is established by phosphodiesterase 6A cGMP hydrolysis and guanylate cyclase cGMP synthesis. The protein is a subunit of a key phototransduction enzyme and participates in processes of transmission and amplification of the visual signal. Mutations in this gene have been identified as one cause of autosomal recessive retinitis pigmentosa. [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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q0P638", "ec_number_list": [ { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.1.4.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.17", "type": "external" }, { "id": "3.1.4.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.35", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.25", "type": "external" }, { "id": "3.6.1.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.14", "type": "external" }, { "id": "3.1.4.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.53", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0047555 3',5'-cyclic-GMP phosphodiesterase activity;GO:0004115 3',5'-cyclic-AMP phosphodiesterase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0097381 photoreceptor disc membrane;GO:0042622 photoreceptor outer segment membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0007601 visual perception;GO:0060041 retina development in camera-type eye;GO:0141162 negative regulation of cAMP/PKA signal transduction", "synthesized_glycan_count": 0, "hit_score": 14.1, "record_id": "P16499-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35408-1", "uniprot_id": [ { "id": "PE2R4_HUMAN", "url": "https://www.uniprot.org/uniprot/P35408", "type": "external" } ], "mass": 53119.0, "length": 488, "protein_name": "Prostaglandin E2 receptor EP4 subtype", "gene_name": "PTGER4", "organism": "Human", "refseq_name": "prostaglandin E2 receptor EP4 subtype", "refseq_ac": [ { "id": "NP_000949", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000949", "type": "external" } ], "gene_names_uniprotkb": "PTGER4; PTGER2", "gene_names_refseq": "EP4R; EP4; PTGER4", "protein_names_uniprotkb": "Prostaglandin E2 receptor EP4 subtype; PGE receptor EP4 subtype; PGE2 receptor EP4 subtype; Prostanoid EP4 receptor", "protein_names_refseq": "PGE receptor, EP4 subtype; PGE2 receptor EP4 subtype; prostaglandin E receptor 4 (subtype EP4); prostaglandin E2 receptor EP4 subtype; prostanoid EP4 receptor", "tax_id": 9606, "disease": "aspirin-induced respiratory disease (Disease Ontology:DOID:0080822); osteoporosis (Disease Ontology:DOID:11476); retinal ischemia (Disease Ontology:DOID:12510); dilated cardiomyopathy (Disease Ontology:DOID:12930); cystitis (Disease Ontology:DOID:1679); transient cerebral ischemia (Disease Ontology:DOID:224); arteriosclerosis (Disease Ontology:DOID:2349); acute kidney failure (Disease Ontology:DOID:3021); aortic aneurysm (Disease Ontology:DOID:3627); ankylosing spondylitis (Disease Ontology:DOID:7147); end stage renal disease (Disease Ontology:DOID:783); myocarditis (Disease Ontology:DOID:820); ulcerative colitis (Disease Ontology:DOID:8577)", "pathway": " (hsa:5734); (R-HSA-391908); (R-HSA-418555)", "pathway_count": 3, "publication_count": 105, "publication_id_list": "10036181;10634944;11007482;11597569;11740958;12036966;12058044;12106601;12180353;12222762;12466225;12519077;12860470;13549488;14671004;14709160;1517224;15464062;15765929;15769620;15951850;16313925;16424369;16687412;16923326;17168849;18044684;18577758;19105585;19876791;19929708;20381629;21036126;2163110;2171039;22645359;2417744;24687066;24715725;2491850;2553411;2553705;25576301;25892735;26154972;26417854;27600516;27862975;28514659;2871555;28832583;28855257;29242379;29314611;29443750;29493099;29557506;29602314;29632711;29769354;30833991;31154438;31217245;3127824;31279028;31399091;31844290;31983287;32226383;32497535;32540603;32618402;32715661;32897882;32983136;33049737;33936100;33968037;34211107;35051231;35580925;37232020;37670284;38345417;38631491;38745046;6085243;7532011;7642548;7883006;8078484;8117308;8163486;8250933;8253813;8300593;8340388;8514797;8661119;8672451;8862514;9263355;9417641;9462300;9651336", "class_list": "", "function": "Association between vertebral endplate defects and patient-reported symptoms: an immunohistochemical study investigating the COX-2/PGE-2/EP-4 axis., [RefSeq, PubMed]; Association of PTGER4 and PRKAA1 genetic polymorphisms with gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Complementary roles of EP2 and EP4 receptors in malignant glioma., [RefSeq, PubMed]; EP4-induced mitochondrial localization and cell migration mediated by CALML6 in human oral squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Pharmacological evidence that the inhibitory effects of prostaglandin E2 are mediated by the EP2 and EP4 receptors in human neutrophils., [RefSeq, PubMed]; Receptor for prostaglandin E2 (PGE2). The activity of this receptor is mediated by G(s) proteins that stimulate adenylate cyclase. Has a relaxing effect on smooth muscle. May play an important role in regulating renal hemodynamics, intestinal epithelial transport, adrenal aldosterone secretion, and uterine function., [UniProtKB]; The protein encoded by this gene is a member of the G-protein coupled receptor family. This protein is one of four receptors identified for prostaglandin E2 (PGE2). This receptor can activate T-cell factor signaling. It has been shown to mediate PGE2 induced expression of early growth response 1 (EGR1), regulate the level and stability of cyclooxygenase-2 mRNA, and lead to the phosphorylation of glycogen synthase kinase-3. Knockout studies in mice suggest that this receptor may be involved in the neonatal adaptation of circulatory system, osteoporosis, as well as initiation of skin immune responses. [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": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 13, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q3MJ87", "ec_number_list": [], "go_molecular_function": "GO:0004957 prostaglandin E receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0033624 negative regulation of integrin activation;GO:0006954 inflammatory response;GO:0006955 immune response;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 10.6, "record_id": "P35408-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q58A44-1", "uniprot_id": [ { "id": "PCOTH_HUMAN", "url": "https://www.uniprot.org/uniprot/Q58A44", "type": "external" } ], "mass": 10968.0, "length": 107, "protein_name": "Prostate collagen triple helix protein", "gene_name": "PCOTH", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "PCOTH; C1QTNF9B-AS1", "gene_names_refseq": "", "protein_names_uniprotkb": "Prostate collagen triple helix protein; C1QTNF9B antisense RNA 1; C1QTNF9B antisense gene protein 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "15930275;35051231", "class_list": "", "function": "May be involved in growth and survival of prostate cancer cells through the TAF-Ibeta pathway., [UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 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": 0.3, "record_id": "Q58A44-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6PCE3-1", "uniprot_id": [ { "id": "PGM2L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6PCE3", "type": "external" } ], "mass": 70442.0, "length": 622, "protein_name": "Glucose 1,6-bisphosphate synthase", "gene_name": "PGM2L1", "organism": "Human", "refseq_name": "glucose 1,6-bisphosphate synthase", "refseq_ac": [ { "id": "NP_775853", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775853", "type": "external" } ], "gene_names_uniprotkb": "PGM2L1; BM32A", "gene_names_refseq": "BM32A; NEDHFS; PGM2L1; PMMLP", "protein_names_uniprotkb": "Glucose 1,6-bisphosphate synthase; 2.7.1.106; PMMLP; Phosphoglucomutase-2-like 1", "protein_names_refseq": "glucose 1,6-bisphosphate synthase", "tax_id": 9606, "disease": "neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities (MONDO:MONDO:0859347)", "pathway": " (hsa:283209); (R-HSA-70171)", "pathway_count": 2, "publication_count": 85, "publication_id_list": "10714828;11371164;11506403;11780755;12616532;1278465;12965206;13538944;15710582;16511037;17322306;17804405;183598;18510355;18669648;1871135;18767875;18910716;18910717;18927083;19413330;19415658;19651622;20068231;20166139;20800603;21406692;22219026;23168256;23186163;23446454;2462567;25648650;26154972;26758079;2793178;2846554;28904123;29557506;2960695;30429286;30517626;30833945;3170585;31844290;3208766;32157095;32357974;32983136;33298915;3355497;33592498;33968037;33979636;34171305;3453121;34782236;35051231;3529090;35580925;36010968;37074911;37938771;4413246;4555506;4827367;5009693;5687724;6434534;6444721;6451249;6696436;6771269;7144574;7150652;7391027;7717389;7825568;7989588;8117307;8325892;8447317;8786021;9438414;9493266", "class_list": "", "function": "Glucose 1,6-bisphosphate synthase using 1,3-bisphosphoglycerate as a phosphate donor and a series of 1-phosphate sugars, including glucose 1-phosphate, mannose 1-phosphate, ribose 1-phosphate and deoxyribose 1-phosphate, as acceptors (PubMed:17804405). In vitro, also exhibits very low phosphopentomutase and phosphoglucomutase activity which are most probably not physiologically relevant (PubMed:17804405)., [UniProtKB, PubMed, PubMed, PubMed]; Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Study shows that PGM2L1 which shows 60% homology with PGM2 actually corresponds to glucose-1,6-bisphosphate synthase., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 14, "reported_interactions": 0, "missing_score": 9641, "biomarker_type": "", "glycan_count": 9, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q96MQ7;Q9UIK3", "ec_number_list": [ { "id": "2.7.1.106", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.106", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0004614 phosphoglucomutase activity;GO:0047933 glucose-1,6-bisphosphate synthase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0006006 glucose metabolic process", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "Q6PCE3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZS72-1", "uniprot_id": [ { "id": "PEAK3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZS72", "type": "external" } ], "mass": 50509.0, "length": 473, "protein_name": "Protein PEAK3", "gene_name": "PEAK3", "organism": "Human", "refseq_name": "protein PEAK3", "refseq_ac": [ { "id": "NP_940934", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_940934", "type": "external" } ], "gene_names_uniprotkb": "PEAK3; C19orf35", "gene_names_refseq": "C19orf35; PEAK3", "protein_names_uniprotkb": "Protein PEAK3", "protein_names_refseq": "protein PEAK3", "tax_id": 9606, "disease": "", "pathway": " (hsa:374872)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "24715725;28218747;29437277;29557506;30315122;30429286;31154438;31311869;31848261;33123756;35051231;35580925;36284347", "class_list": "", "function": "By binding to CrkII, PEAK3 prevents the formation of CrkII-dependent membrane ruffling., [RefSeq, PubMed]; Probable catalytically inactive kinase (Probable). Interacts with CRK-II and antagonizes CRK-II-signaling. Prevents the formation of CRK-II-dependent membrane ruffling and lamellipodia-like extensions (PubMed:31311869)., [UniProtKB, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 5, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0004672 protein kinase activity", "go_cellular_component": "GO:0005925 focal adhesion;GO:0015629 actin cytoskeleton", "go_biological_process": "GO:0032956 regulation of actin cytoskeleton organization;GO:2000145 regulation of cell motility;GO:0008360 regulation of cell shape", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q6ZS72-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N6Y1-1", "uniprot_id": [ { "id": "PCD20_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N6Y1", "type": "external" } ], "mass": 104919.0, "length": 951, "protein_name": "Protocadherin-20", "gene_name": "PCDH20", "organism": "Human", "refseq_name": "protocadherin-20 precursor", "refseq_ac": [ { "id": "NP_073754", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_073754", "type": "external" } ], "gene_names_uniprotkb": "PCDH20; PCDH13", "gene_names_refseq": "PCDH13; PCDH20", "protein_names_uniprotkb": "Protocadherin-20; Protocadherin-13", "protein_names_refseq": "protocadherin 13; protocadherin-20 precursor", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:64881)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "10.1101/2023.09.13.557529;16959974;23090970;23481700;24190977;24715725;26188009;27935871;28254787;31450490;32157095;32387766;33968037;34561969;35051231;35251023;36641129;37407995", "class_list": "", "function": "Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as good candidates for modulatory genes in the auditory system. [meta-analysis], [RefSeq, PubMed]; Low PCDH20 expression is associated with hypopharyngeal squamous cell carcinoma through the Wnt/beta-catenin signalling pathway., [RefSeq, PubMed]; Low expression of PCDH20 was found to be associated with poor OS in HCC patients; hence, this protein represents a promising potential prognostic biomarker, [RefSeq, PubMed]; Potential calcium-dependent cell-adhesion protein., [UniProtKB]; Protocadherin 20 maintains intestinal barrier function to protect against Crohn's disease by targeting ATF6. Publication Status: Online-Only, [RefSeq, PubMed]; Protocadherin 20 promotes ferroptosis by suppressing the expression of Sirtuin 1 and promoting the acetylation of nuclear factor erythroid 2-related factor 2 in hepatocellular carcinoma., [RefSeq, PubMed]; This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This gene encodes a protein which contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. Although its specific function is undetermined, the cadherin-related neuronal receptor is thought to play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Jul 2008]., [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": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 44, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A8K1K9;B1AQU2;Q8NDN4;Q9NRT9", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q8N6Y1-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WWR9-1", "uniprot_id": [ { "id": "PDPFL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WWR9", "type": "external" } ], "mass": 9188.0, "length": 84, "protein_name": "Pancreatic progenitor cell differentiation and proliferation factor-like protein", "gene_name": "PPDPFL", "organism": "Human", "refseq_name": "pancreatic progenitor cell differentiation and proliferation factor-like protein isoform a", "refseq_ac": [ { "id": "NP_001007177", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007177", "type": "external" } ], "gene_names_uniprotkb": "PPDPFL; C8orf22", "gene_names_refseq": "C8orf22; PPDPFL", "protein_names_uniprotkb": "Pancreatic progenitor cell differentiation and proliferation factor-like protein; Exocrine differentiation and proliferation factor-like protein", "protein_names_refseq": "exocrine differentiation and proliferation factor-like protein; pancreatic progenitor cell differentiation and proliferation factor-like protein isoform a; pancreatic progenitor cell differentiation and proliferation factor-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:492307)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11329013", "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": "G3V137;Q8WVI1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q8WWR9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96TA0-1", "uniprot_id": [ { "id": "PCDBI_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96TA0", "type": "external" } ], "mass": 80449.0, "length": 734, "protein_name": "Putative protocadherin beta-18", "gene_name": "PCDHB18P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "PCDHB18P; PCDHB18", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative protocadherin beta-18; PCDH-beta-18; PCDH-psi2", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 11, "publication_id_list": "10380929;11230163;11322959;28832583;29242379;29557506;30429286;32350084;32387766;32488085;35051231", "class_list": "", "function": "Potential calcium-dependent cell-adhesion protein., [UniProtKB]", "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": 0, "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": "B3KTF8", "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_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q96TA0-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H158-1", "uniprot_id": [ { "id": "PCDC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H158", "type": "external" } ], "mass": 103942.0, "length": 963, "protein_name": "Protocadherin alpha-C1", "gene_name": "PCDHAC1", "organism": "Human", "refseq_name": "protocadherin alpha-C1 isoform 1 precursor", "refseq_ac": [ { "id": "NP_061721", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061721", "type": "external" } ], "gene_names_uniprotkb": "PCDHAC1", "gene_names_refseq": "PCDH-ALPHA-C1; PCDHAC1", "protein_names_uniprotkb": "Protocadherin alpha-C1; PCDH-alpha-C1", "protein_names_refseq": "protocadherin alpha-C1 isoform 1 precursor; protocadherin alpha-C1", "tax_id": 9606, "disease": "", "pathway": " (hsa:56135)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "10380929;32387766;32488085;34211107;35051231", "class_list": "", "function": "Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 59, "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": "Q9Y5F5;Q9Y5I5", "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_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q9H158-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UN72-1", "uniprot_id": [ { "id": "PCDA7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UN72", "type": "external" } ], "mass": 100865.0, "length": 937, "protein_name": "Protocadherin alpha-7", "gene_name": "PCDHA7", "organism": "Human", "refseq_name": "protocadherin alpha-7 isoform 1 precursor", "refseq_ac": [ { "id": "NP_061733", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061733", "type": "external" } ], "gene_names_uniprotkb": "PCDHA7; CNRS4", "gene_names_refseq": "CNR4; CNRN4; CNRS4; CRNR4; PCDH-ALPHA7; PCDHA7", "protein_names_uniprotkb": "Protocadherin alpha-7; PCDH-alpha-7", "protein_names_refseq": "KIAA0345-like 7; PCDH-alpha-7; ortholog to mouse CNR4; protocadherin alpha-7 isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:56141)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "10380929;31844290;35051231", "class_list": "", "function": "Calcium-dependent cell-adhesion protein involved in cells self-recognition and non-self discrimination. Thereby, it is involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB, UniProtKB]; This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [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": 71, "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": "O75282", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:0009988 cell-cell recognition", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q9UN72-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UN75-1", "uniprot_id": [ { "id": "PCDAC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UN75", "type": "external" } ], "mass": 101652.0, "length": 941, "protein_name": "Protocadherin alpha-12", "gene_name": "PCDHA12", "organism": "Human", "refseq_name": "protocadherin alpha-12 isoform 1 precursor", "refseq_ac": [ { "id": "NP_061726", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061726", "type": "external" } ], "gene_names_uniprotkb": "PCDHA12", "gene_names_refseq": "PCDH-ALPHA12; PCDHA12", "protein_names_uniprotkb": "Protocadherin alpha-12; PCDH-alpha-12", "protein_names_refseq": "KIAA0345-like 2; PCDH-alpha-12; protocadherin alpha-12 isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:56137)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "10380929;11237011;23090970;24190977;29741879;32157095;33141586;33392160;35051231;35580925", "class_list": "", "function": "Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 67, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "O75278;Q2M1N8", "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_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9UN75-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5E2-1", "uniprot_id": [ { "id": "PCDB7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5E2", "type": "external" } ], "mass": 86707.0, "length": 793, "protein_name": "Protocadherin beta-7", "gene_name": "PCDHB7", "organism": "Human", "refseq_name": "protocadherin beta-7 precursor", "refseq_ac": [ { "id": "NP_061763", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061763", "type": "external" } ], "gene_names_uniprotkb": "PCDHB7", "gene_names_refseq": "PCDH-BETA7; PCDHB7", "protein_names_uniprotkb": "Protocadherin beta-7; PCDH-beta-7", "protein_names_refseq": "protocadherin beta-7 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:56129)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "10380929;11322959;16115862;17322306;24715725;29557506;29786170;30429286;31844290;32387766;33592498;33968037;34357683;34509645;35051231;38253038", "class_list": "", "function": "Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. The transcript for this particular family member uses more than one polyadenylation site. [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 88, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A1L3Y8", "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_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q9Y5E2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5E9-1", "uniprot_id": [ { "id": "PCDBE_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5E9", "type": "external" } ], "mass": 87548.0, "length": 798, "protein_name": "Protocadherin beta-14", "gene_name": "PCDHB14", "organism": "Human", "refseq_name": "protocadherin beta-14 precursor", "refseq_ac": [ { "id": "NP_061757", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061757", "type": "external" } ], "gene_names_uniprotkb": "PCDHB14", "gene_names_refseq": "PCDH-BETA14; PCDHB14", "protein_names_uniprotkb": "Protocadherin beta-14; PCDH-beta-14", "protein_names_refseq": "protocadherin beta-14 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:56122)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "10380929;11322959;24715725;25566775;29741879;32938616;33968037;34357683;35051231;35318648;35688944;36010968", "class_list": "", "function": "PCDHB14 promotes ferroptosis and is a novel tumor suppressor in hepatocellular carcinoma., [RefSeq, PubMed]; PCDHB14- and GABRB1-like nervous system developmental genes are altered during early neuronal differentiation of NCCIT cells treated with ethanol, [RefSeq, PubMed]; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 5, "predicted_n_glycosites": 5, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 51, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B4DPE2;Q4FZA4;Q4KN11", "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:0016020 membrane;GO:0045202 synapse", "go_biological_process": "GO:0007155 cell adhesion;GO:0007268 chemical synaptic transmission;GO:0007416 synapse assembly;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:0016339 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q9Y5E9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5F0-1", "uniprot_id": [ { "id": "PCDBD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5F0", "type": "external" } ], "mass": 87552.0, "length": 798, "protein_name": "Protocadherin beta-13", "gene_name": "PCDHB13", "organism": "Human", "refseq_name": "protocadherin beta-13 precursor", "refseq_ac": [ { "id": "NP_061756", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061756", "type": "external" } ], "gene_names_uniprotkb": "PCDHB13; PRO531", "gene_names_refseq": "PCDH-BETA13; PCDHB13", "protein_names_uniprotkb": "Protocadherin beta-13; PCDH-beta-13", "protein_names_refseq": "protocadherin beta-13 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:56123)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "10380929;11322959;12975309;29786170;31844290;34357683;35051231", "class_list": "", "function": "Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [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": 44, "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": "A8K9V6", "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:0016020 membrane;GO:0045211 postsynaptic membrane;GO:0097381 photoreceptor disc membrane;GO:0032391 photoreceptor connecting cilium", "go_biological_process": "GO:0007155 cell adhesion;GO:0007268 chemical synaptic transmission;GO:0007416 synapse assembly;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:0016339 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q9Y5F0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5G4-1", "uniprot_id": [ { "id": "PCDG9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5G4", "type": "external" } ], "mass": 101687.0, "length": 932, "protein_name": "Protocadherin gamma-A9", "gene_name": "PCDHGA9", "organism": "Human", "refseq_name": "protocadherin gamma-A9 isoform 1 precursor", "refseq_ac": [ { "id": "NP_061744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061744", "type": "external" } ], "gene_names_uniprotkb": "PCDHGA9", "gene_names_refseq": "PCDH-GAMMA-A9; PCDHGA9", "protein_names_uniprotkb": "Protocadherin gamma-A9; PCDH-gamma-A9", "protein_names_refseq": "protocadherin gamma-A9 isoform 1 precursor; protocadherin gamma-A9", "tax_id": 9606, "disease": "", "pathway": " (hsa:56107)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "10380929;17081983;25645385;29557506;32157095;32231199;32387766;33592498;33968037;34087483;34357683;34643245;35051231;35154160", "class_list": "", "function": "Long noncoding RNA HHIPAS1 inhibits lung cancer epithelialmesenchymal transition and stemness by regulating PCDHGA9., [RefSeq, PubMed]; PCDHGA9 represses epithelial-mesenchymal transition and metastatic potential in gastric cancer cells by reducing beta-catenin transcriptional activity. Publication Status: Online-Only, [RefSeq, PubMed]; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 5, "predicted_n_glycosites": 5, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A2RU65;Q9Y5C9", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q9Y5G4-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5H2-1", "uniprot_id": [ { "id": "PCDGB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5H2", "type": "external" } ], "mass": 101543.0, "length": 935, "protein_name": "Protocadherin gamma-A11", "gene_name": "PCDHGA11", "organism": "Human", "refseq_name": "protocadherin gamma-A11 isoform 1 precursor", "refseq_ac": [ { "id": "NP_061737", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061737", "type": "external" } ], "gene_names_uniprotkb": "PCDHGA11", "gene_names_refseq": "PCDH-GAMMA-A11; PCDHGA11", "protein_names_uniprotkb": "Protocadherin gamma-A11; PCDH-gamma-A11", "protein_names_refseq": "protocadherin gamma-A11 isoform 1 precursor; protocadherin gamma-A11", "tax_id": 9606, "disease": "", "pathway": " (hsa:56105)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "10.1101/2023.09.13.557529;10380929;15799819;20388442;25418920;25645385;25892735;28063628;29242379;29393594;29557506;29632046;29769354;30573663;30779550;31848261;32350084;32387766;32488085;34509645;35051231;35154160", "class_list": "", "function": "PCDH-gamma-A11 is silenced epigenetically in astrocytic gliomas, [RefSeq, PubMed]; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; The promoter methylation and mRNA expressions of EMP3 and PCDH-gamma-A11 are closely related with the malignant development of glioma., [RefSeq, PubMed]; This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [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": 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": 46, "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": "B7ZVY8;Q9Y5D8;Q9Y5D9", "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_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q9Y5H2-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5H7-1", "uniprot_id": [ { "id": "PCDA5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5H7", "type": "external" } ], "mass": 102048.0, "length": 936, "protein_name": "Protocadherin alpha-5", "gene_name": "PCDHA5", "organism": "Human", "refseq_name": "protocadherin alpha-5 isoform 1 precursor", "refseq_ac": [ { "id": "NP_061731", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061731", "type": "external" } ], "gene_names_uniprotkb": "PCDHA5; CNRS6", "gene_names_refseq": "CNR6; CNRN6; CNRS6; CRNR6; PCDH-ALPHA5; PCDHA5", "protein_names_uniprotkb": "Protocadherin alpha-5; PCDH-alpha-5", "protein_names_refseq": "KIAA0345-like 9; PCDH-alpha-5; ortholog of mouse CNR6; protocadherin alpha-5 isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:56143)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "10380929;29557506;30779550;35494241", "class_list": "", "function": "Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 52, "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": "O75284;Q8N4R3", "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_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q9Y5H7-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6V0-5", "uniprot_id": [ { "id": "PCLO_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6V0", "type": "external" } ], "mass": 560699.0, "length": 5142, "protein_name": "Protein piccolo", "gene_name": "PCLO", "organism": "Human", "refseq_name": "protein piccolo isoform 2", "refseq_ac": [ { "id": "NP_055325", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055325", "type": "external" } ], "gene_names_uniprotkb": "PCLO; ACZ; KIAA0559", "gene_names_refseq": "ACZ; PCH3; PCLO", "protein_names_uniprotkb": "Protein piccolo; Aczonin", "protein_names_refseq": "aczonin; protein piccolo isoform 2; protein piccolo", "tax_id": 9606, "disease": "pontocerebellar hypoplasia type 3 (Disease Ontology:DOID:0060272)", "pathway": " (hsa:27445); (R-HSA-9662360)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "10025409;10508862;11163272;20058876;20068231;20563614;25645385;25832664;28263981;28411811;28540843;28657654;29351928;29485866;29557506;30379171;30429286;31217245;31530632;31844290;31848261;32157095;32387766;32488085;32493491;32502341;32938616;32983136;33592498;33968037;33981976;34087483;35051231;35580925;36010968;36241641;37938771;39302247;40136647;41350704", "class_list": "", "function": "In an analysis comparing 1,942 cases with lifetime diagnosis of MDD and 4,565 controls, PCLO showed a genome-wide significant association with major depressive disorder at SNP (rs2715157, p = 2.91 x 10-8) and gene-based (p = 1.48 x 10-7) level., [RefSeq, PubMed]; No symphony without bassoon and piccolo: changes in synaptic active zone proteins in Huntington's disease. Publication Status: Online-Only, [RefSeq, PubMed]; Piccolo contributes to tumor aggressiveness in esophageal squamous cell carcinoma, likely by stabilizing EGFR and promoting EGFR-dependent signaling., [RefSeq, PubMed]; Scaffold protein of the presynaptic cytomatrix at the active zone (CAZ) which is the place in the synapse where neurotransmitter is released (By similarity). After synthesis, participates in the formation of Golgi-derived membranous organelles termed Piccolo-Bassoon transport vesicles (PTVs) that are transported along axons to sites of nascent synaptic contacts (By similarity). At the presynaptic active zone, regulates the spatial organization of synaptic vesicle cluster, the protein complexes that execute membrane fusion and compensatory endocytosis (By similarity). Organizes as well the readily releasable pool of synaptic vesicles and safeguards a fraction of them to be not immediately available for action potential-induced release (By similarity). Also functions in processes other than assembly such as the regulation of specific presynaptic protein ubiquitination by interacting with SIAH1 or the regulation of presynaptic autophagy (By similarity). Also mediates synapse to nucleus communication leading to reconfiguration of gene expression by associating with the transcriptional corepressor CTBP1 and by subsequently reducing the size of its pool available for nuclear import (By similarity)., [UniProtKB, UniProtKB]; The protein encoded by this gene is part of the presynaptic cytoskeletal matrix, which is involved in establishing active synaptic zones and in synaptic vesicle trafficking. Variations in this gene have been associated with bipolar disorder and major depressive disorder. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]., [RefSeq]", "predicted_glycosites": 9, "predicted_n_glycosites": 0, "predicted_o_glycosites": 9, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 41, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 41, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 41, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 65, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 263, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 50, "binding_glycan_count": 0, "secondary_ac_list": "A4D1A7;A6NNX9;O43373;O60305;Q08E72;Q9BVC8;Q9UIV2;Q9Y6U9", "ec_number_list": [], "go_molecular_function": "GO:0098882 structural constituent of presynaptic active zone;GO:0008270 zinc ion binding;GO:0005509 calcium ion binding;GO:0005544 calcium-dependent phospholipid binding;GO:0005522 profilin binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0005856 cytoskeleton;GO:0014069 postsynaptic density;GO:0030424 axon", "go_biological_process": "GO:0097091 synaptic vesicle clustering;GO:0007010 cytoskeleton organization;GO:0035418 protein localization to synapse;GO:1904071 presynaptic active zone assembly;GO:0016079 synaptic vesicle exocytosis", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "Q9Y6V0-5", "record_type": "protein", "filter_code": "0000000.1000111.000100.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NIE9-1", "uniprot_id": [ { "id": "PRS29_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NIE9", "type": "external" } ], "mass": 34063.0, "length": 313, "protein_name": "Putative serine protease 29", "gene_name": "PRSS29P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "PRSS29P; ISP2", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative serine protease 29; 3.4.21.-; ISP2-like protein; Implantation serine proteinase 2-like protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "28832583;29557506;31222486;32938616;33981976;35580925", "class_list": "", "function": "", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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:0004252 serine-type endopeptidase activity", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "A6NIE9-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BQR3-1", "uniprot_id": [ { "id": "PRS27_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BQR3", "type": "external" } ], "mass": 31940.0, "length": 290, "protein_name": "Serine protease 27", "gene_name": "PRSS27", "organism": "Human", "refseq_name": "serine protease 27 isoform 2", "refseq_ac": [ { "id": "NP_001305324", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305324", "type": "external" } ], "gene_names_uniprotkb": "PRSS27; MPN; PRO4327", "gene_names_refseq": "CAPH2; MPN; PRSS27", "protein_names_uniprotkb": "Serine protease 27; 3.4.21.-; Marapsin; Pancreasin", "protein_names_refseq": "channel-activating protease 2; marapsin; pancreasin; protease, serine 27; serine protease 27 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:83886)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;12441343;12975309;18948266;23447538;32387766;33452606;34561969", "class_list": "", "function": "Expression Status of Serine Protease 27: A Prognostic Marker for Esophageal Squamous Cell Carcinoma Treated with Preoperative Chemotherapy/Chemoradiotherapy., [RefSeq, PubMed]; Marapsin's restricted expression, localization, and cytokine-inducible expression suggest a role in the terminal differentiation of keratinocytes in hyperproliferating squamous epithelia., [RefSeq, PubMed]; Mutational tail loss is an evolutionary mechanism for liberating marapsins and other type I serine proteases from transmembrane anchors., [RefSeq, PubMed]; Structure and activity of the human enzyme, a serine peptidase found in the pancreas, [RefSeq, PubMed]; This gene is located within a large protease gene cluster on chromosome 16. It belongs to the group-1 subfamily of serine proteases. The encoded protein is a secreted tryptic serine protease and is expressed mainly in the pancreas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane", "go_biological_process": "GO:0016485 protein processing", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q9BQR3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14603-1", "uniprot_id": [ { "id": "PRY_HUMAN", "url": "https://www.uniprot.org/uniprot/O14603", "type": "external" } ], "mass": 16512.0, "length": 147, "protein_name": "PTPN13-like protein, Y-linked", "gene_name": "PRY2; PRYP3; PRYP4; PRY", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "PRY2; PRYP3; PRYP4; PRY; PRY1; PTPN13LY2; PTPN13LY", "gene_names_refseq": "", "protein_names_uniprotkb": "PTPN13-like protein, Y-linked; Testis-specific PTP-BL-related Y protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 7, "publication_id_list": "11420382;14665702;25892735;28834231;29557506;29769354;9381176", "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": "B7ZLM1;Q14D09", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "O14603-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14684-1", "uniprot_id": [ { "id": "PTGES_HUMAN", "url": "https://www.uniprot.org/uniprot/O14684", "type": "external" } ], "mass": 17102.0, "length": 152, "protein_name": "Prostaglandin E synthase", "gene_name": "PTGES", "organism": "Human", "refseq_name": "prostaglandin E synthase", "refseq_ac": [ { "id": "NP_004869", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004869", "type": "external" } ], "gene_names_uniprotkb": "PTGES; MGST1L1; MPGES1; PGES; PIG12", "gene_names_refseq": "MGST-IV; MGST1-L1; MGST1L1; MPGES; PGES; PIG12; PP102; PP1294; PTGES; TP53I12; mPGES-1", "protein_names_uniprotkb": "Prostaglandin E synthase; 1.11.1.-; 2.5.1.18; 5.3.99.3; Glutathione peroxidase PTGES; Glutathione transferase PTGES; MGST1-L1; MPGES-1; Microsomal glutathione S-transferase 1-like 1; Microsomal prostaglandin E synthase 1; p53-induced gene 12 protein", "protein_names_refseq": "MGST1-like 1; glutathione peroxidase PTGES; glutathione transferase PTGES; microsomal glutathione S-transferase 1-like 1; microsomal prostaglandin E synthase-1; p53-induced apoptosis protein 12; p53-induced gene 12 protein; prostaglandin E synthase; tumor protein p53 inducible protein 12", "tax_id": 9606, "disease": "ductal carcinoma in situ (Disease Ontology:DOID:0060074); penile benign neoplasm (Disease Ontology:DOID:11624); peptic esophagitis (Disease Ontology:DOID:13976); ovary epithelial cancer (Disease Ontology:DOID:2152); papilloma (Disease Ontology:DOID:2615); transitional cell carcinoma (Disease Ontology:DOID:2671); endometrial adenocarcinoma (Disease Ontology:DOID:2870); endometriosis (Disease Ontology:DOID:289); ischemia (Disease Ontology:DOID:326); lung non-small cell carcinoma (Disease Ontology:DOID:3908); in situ carcinoma (Disease Ontology:DOID:8719); Barrett's esophagus (Disease Ontology:DOID:9206)", "pathway": " (hsa:9536); (R-HSA-2162123)", "pathway_count": 2, "publication_count": 69, "publication_id_list": "10377395;10377455;10622721;10760517;10869354;10922363;10966456;11297515;11465543;11672424;12244105;12460774;12627223;12672824;12835322;1380156;14979715;15047184;15115769;16439136;16475787;16828555;17449869;17641676;18006499;18493841;18682561;19000823;20036328;20112406;20667974;20950588;21467029;23431194;26755582;27684486;28510447;28904123;29393594;30315122;30410026;30429286;30814036;31844290;32157095;32357974;32938616;33574423;33912179;33968037;36284347;37108468;37358009;3862115;3954355;4514999;4521806;4776443;5284360;7005231;7552725;7925341;7947975;8175750;8901870;9139685;9219313;9305847;9626023", "class_list": "", "function": "Clinical data mining reveals analgesic effects of lapatinib in cancer patients. Publication Status: Online-Only, [RefSeq, PubMed]; PTGES Expression Is Associated with Metabolic and Immune Reprogramming in Pancreatic Ductal Adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Studied the role that microsomal prostaglandin E synthase-1 (mPGES-1) derived prostaglandin E2 (PGE2) plays in cell migration in the pathogenesis of Hirschsprung disease. Results showed mPGES-1 derived PGE2 decreased the relative expression of EP2 and ARP2/3 and caused damage to cytoskeleton., [RefSeq, PubMed]; Targeting PTGES/PGE2 axis enhances sensitivity of colorectal cancer cells to 5-fluorouracil., [RefSeq, PubMed]; Terminal enzyme of the cyclooxygenase (COX)-2-mediated prostaglandin E2 (PGE2) biosynthetic pathway. Catalyzes the glutathione-dependent oxidoreduction of prostaglandin endoperoxide H2 (PGH2) to prostaglandin E2 (PGE2) in response to inflammatory stimuli (PubMed:10377395, PubMed:10869354, PubMed:12244105, PubMed:12460774, PubMed:12672824, PubMed:18682561). Plays a key role in inflammation response, fever and pain (By similarity). Also catalyzes the oxidoreduction of endocannabinoids into prostaglandin glycerol esters and PGG2 into 15-hydroperoxy-PGE2 (PubMed:12244105, PubMed:12672824). In addition, displays low glutathione transferase and glutathione-dependent peroxidase activities, toward 1-chloro-2,4-dinitrobenzene and 5-hydroperoxyicosatetraenoic acid (5-HPETE), respectively (PubMed:12672824)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; The protein encoded by this gene is a glutathione-dependent prostaglandin E synthase. The expression of this gene has been shown to be induced by proinflammatory cytokine interleukin 1 beta (IL1B). Its expression can also be induced by tumor suppressor protein TP53, and may be involved in TP53 induced apoptosis. Knockout studies in mice suggest that this gene may contribute to the pathogenesis of collagen-induced arthritis and mediate acute pain during inflammatory responses. [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": 23, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 12, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O14900;Q5SZC0", "ec_number_list": [ { "id": "5.3.99.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.3", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" }, { "id": "4.4.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:4.4.1.20", "type": "external" }, { "id": "2.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.-", "type": "external" }, { "id": "1.11.1.12", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.12", "type": "external" }, { "id": "1.11.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.9", "type": "external" } ], "go_molecular_function": "GO:0004667 prostaglandin-D synthase activity;GO:0004364 glutathione transferase activity;GO:0043295 glutathione binding;GO:0050220 prostaglandin-E synthase activity;GO:0004602 glutathione peroxidase activity", "go_cellular_component": "GO:0005641 nuclear envelope lumen;GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0048471 perinuclear region of cytoplasm;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0031620 regulation of fever generation;GO:0007165 signal transduction;GO:0019233 sensory perception of pain;GO:0050727 regulation of inflammatory response;GO:0006693 prostaglandin metabolic process", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "O14684-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60508-1", "uniprot_id": [ { "id": "PRP17_HUMAN", "url": "https://www.uniprot.org/uniprot/O60508", "type": "external" } ], "mass": 65521.0, "length": 579, "protein_name": "Pre-mRNA-processing factor 17", "gene_name": "CDC40", "organism": "Human", "refseq_name": "pre-mRNA-processing factor 17", "refseq_ac": [ { "id": "NP_056975", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056975", "type": "external" } ], "gene_names_uniprotkb": "CDC40; EHB3; PRP17; PRPF17", "gene_names_refseq": "CDC40; EHB3; PCH15; PRP17; PRPF17", "protein_names_uniprotkb": "Pre-mRNA-processing factor 17; Cell division cycle 40 homolog; EH-binding protein 3; Ehb3; PRP17 homolog; hPRP17", "protein_names_refseq": "EH-binding protein 3; PRP17 homolog; cell division cycle 40 homolog; hPRP17; pre-mRNA splicing factor 17; pre-mRNA-processing factor 17", "tax_id": 9606, "disease": "pontocerebellar hypoplasia type 15 (Disease Ontology:DOID:0112326)", "pathway": " (hsa:51362); (R-HSA-159236); (R-HSA-72163); (R-HSA-72187); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 6, "publication_count": 212, "publication_id_list": "10228171;10323864;10489353;10668806;10669729;10882114;11014198;11060040;11073998;11101529;11233976;11237011;11256625;11259411;11259602;11579093;11739738;11747608;11756420;11979277;11991638;12093754;12176931;12411573;12414731;12477934;12871933;14519844;14625303;14713954;14749727;14762106;15037765;15084397;15565158;15998806;16314397;16314458;16809785;17000901;17081983;17095540;17128255;17190602;17332742;17606899;17984224;18288197;18322460;18364396;18411249;18423201;18593880;18669648;18957205;19103666;19165350;19217410;19536130;19836239;20068231;20129943;20423332;20573985;20695905;20844015;20980672;21295486;21536652;2176635;21911577;21947206;22110043;22207203;22365833;22813749;22893130;22928037;22959432;22961380;23186163;23222130;23236153;23299939;23345524;23481700;23826332;23874216;24076191;24149845;24196718;24244187;24304693;24448447;24715725;24737827;24914973;25301780;25301781;25418920;25555158;2558966;25662211;25836925;25880248;26092250;26154972;26375851;26385511;26420826;26969736;26992070;27108190;27377154;27459055;27683217;27846572;27920218;28062851;28063628;28076346;28096519;28218747;28228285;28502770;28781166;28832583;28834231;28904123;28911096;29186539;29242379;29274231;29301961;29360106;29361316;29493099;29557506;29632046;2963332;29902443;30139799;30257008;30315122;30315277;30410026;30429286;30599162;30705154;30728453;30765414;30779550;30975767;31154438;31409651;31844290;31848261;32157095;32179686;32265295;32329775;32357974;32387766;32494006;32502341;32816001;32897882;32938616;33177556;33220177;33243851;33298915;33446560;33537174;33592498;33633747;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34301950;34509645;34822310;35051231;35177536;35215846;35385551;35580925;36010968;36241641;36284347;3757028;8566756;8608946;9016565;9242493;9303539;9512519;9524131;9539711;9618489;9659921;9660949;9671485;9701291;9731529;9769104;9830021", "class_list": "", "function": "Pre-mRNA splicing occurs in two sequential transesterification steps. The protein encoded by this gene is found to be essential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains seven WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp17 protein, which functions in two different cellular processes: pre-mRNA splicing and cell cycle progression. It suggests that this protein may play a role in cell cycle progression. [provided by RefSeq, Jul 2008]., [RefSeq]; Required for pre-mRNA splicing as component of the activated spliceosome (PubMed:33220177). Plays an important role in embryonic brain development; this function does not require proline isomerization (PubMed:33220177)., [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": 1, "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": "B2RBC5;O75471;Q5SRN0;Q9UPG1", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0071013 catalytic step 2 spliceosome;GO:0071007 U2-type catalytic step 2 spliceosome", "go_biological_process": "GO:0000398 mRNA splicing, via spliceosome;GO:1990403 embryonic brain development", "synthesized_glycan_count": 0, "hit_score": 21.3, "record_id": "O60508-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P04554-1", "uniprot_id": [ { "id": "PRM2_HUMAN", "url": "https://www.uniprot.org/uniprot/P04554", "type": "external" } ], "mass": 13051.0, "length": 102, "protein_name": "Protamine-2", "gene_name": "PRM2", "organism": "Human", "refseq_name": "protamine-2 isoform 2", "refseq_ac": [ { "id": "NP_001273285", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273285", "type": "external" } ], "gene_names_uniprotkb": "PRM2", "gene_names_refseq": "CT94.2; PRM2", "protein_names_uniprotkb": "Protamine-2; P2''; P2'; Sperm histone P2; Sperm protamine P2; Sperm protamine P3; Sperm protamine P4", "protein_names_refseq": "cancer/testis antigen family 94, member 2; protamine-2 isoform 2; sperm histone P2; sperm protamine P2; testicular secretory protein Li 40", "tax_id": 9606, "disease": "", "pathway": " (hsa:5620); (R-HSA-9821993)", "pathway_count": 2, "publication_count": 16, "publication_id_list": "10659848;1889406;2081589;22362753;2384091;24715725;33427330;33440036;3403514;3412906;34235877;3527226;36217675;3956509;7983046;8513794", "class_list": "", "function": "Impact of tobacco smoking in association with H2BFWT, PRM1 and PRM2 genes variants on male infertility., [RefSeq, PubMed]; Protamine 1/Protamine 2 mRNA ratio in nonobstructive azoospermic patients., [RefSeq, PubMed]; Protamines substitute for histones in the chromatin of sperm during the haploid phase of spermatogenesis, and are the major DNA-binding proteins in the nucleus of sperm in many vertebrates. They package the sperm DNA into a highly condensed complex in a volume less than 5% of a somatic cell nucleus. Many mammalian species have only one protamine (protamine 1); however, a few species, including human and mouse, have two. This gene encodes protamine 2, which is cleaved to give rise to a family of protamine 2 peptides. Alternatively spliced transcript variants have also been found for this gene. [provided by RefSeq, Sep 2015]., [RefSeq, UniProtKB, UniProtKB]; Spermatozoa retrieval in azoospermia and expression profile of JMJD1A, TNP2, and PRM2 in a subset of the Karachi population., [RefSeq, PubMed]; Tobacco smoking and its impact on the expression level of sperm nuclear protein genes: H2BFWT, TNP1, TNP2, PRM1 and PRM2., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6ZMM0", "ec_number_list": [], "go_molecular_function": "GO:0046870 cadmium ion binding;GO:0003677 DNA binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000786 nucleosome", "go_biological_process": "GO:0007283 spermatogenesis;GO:0007286 spermatid development;GO:0030261 chromosome condensation;GO:0006997 nucleus organization;GO:0051276 chromosome organization", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "P04554-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DMW2-1", "uniprot_id": [ { "id": "PYDC4_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DMW2", "type": "external" } ], "mass": 4993.0, "length": 45, "protein_name": "NLR family pyrin domain-containing protein 2B", "gene_name": "NLRP2B", "organism": "Human", "refseq_name": "NLR family pyrin domain-containing protein 2B", "refseq_ac": [ { "id": "NP_001306896", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306896", "type": "external" } ], "gene_names_uniprotkb": "NLRP2B; CLRX.1; NLRP2P; NOD24; POP4", "gene_names_refseq": "CLRX.1; NALP2P; NLRP2B; NLRP2P; NOD24; POP4", "protein_names_uniprotkb": "NLR family pyrin domain-containing protein 2B; Pyrin domain-containing protein 2-like protein POP4; Pyrin-only protein 4", "protein_names_refseq": "NLR family and pyrin domain-containing 2 pseudogene; NLR family pyrin domain-containing protein 2B; NLR family, pyrin domain containing 2 pseudogene; NOD24 pseudogene; Pyrin domain-containing protein 2-like protein POP4; Pyrin-only protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:286430)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "24871464", "class_list": "", "function": "May function as a negative regulator of NF-kappa-B by preventing RELA/p65 phosphorylation at 'Ser-536', thereby inhibiting its transcriptional activity. Through NF-kappa-B regulation may control cytokine release upon Toll-like receptors activation and therefore play a role in modulation of innate immunity. May also play a role in cell cycle progression and apoptotic process., [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:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0043065 positive regulation of apoptotic process;GO:0045087 innate immune response;GO:0010804 negative regulation of tumor necrosis factor-mediated signaling pathway;GO:0034122 negative regulation of toll-like receptor signaling pathway;GO:0045786 negative regulation of cell cycle", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "P0DMW2-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P22891-1", "uniprot_id": [ { "id": "PROZ_HUMAN", "url": "https://www.uniprot.org/uniprot/P22891", "type": "external" } ], "mass": 44744.0, "length": 400, "protein_name": "Vitamin K-dependent protein Z", "gene_name": "PROZ", "organism": "Human", "refseq_name": "vitamin K-dependent protein Z isoform 1 precursor", "refseq_ac": [ { "id": "NP_001243063", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243063", "type": "external" } ], "gene_names_uniprotkb": "PROZ", "gene_names_refseq": "PROZ; PZ", "protein_names_uniprotkb": "Vitamin K-dependent protein Z", "protein_names_refseq": "vitamin K-dependent protein Z isoform 1 precursor", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); Behcet's disease (Disease Ontology:DOID:13241); brain ischemia (Disease Ontology:DOID:2316)", "pathway": " (hsa:8858); (R-HSA-159740); (R-HSA-159763); (R-HSA-159782); (R-HSA-9769739)", "pathway_count": 5, "publication_count": 68, "publication_id_list": "10026158;10068650;10917896;11035113;11238108;11252894;11513608;11833835;12052963;12907439;16161994;1618828;16619025;17506785;17598008;17635713;1902833;19297154;1930190;19528533;20427285;2129367;21932952;22144186;2244898;22618708;2271516;22786881;23683607;2384594;2403355;24554904;2511201;2538457;25713144;25753038;25855704;2664828;2738071;27862975;29419409;30918026;31262782;31439947;31625376;31844290;32488085;34074095;34134169;35051231;35072242;36951953;3744129;37726033;38253038;3863104;6323392;6967872;7499257;8144529;8336730;8473289;8530480;8639781;9218519;9459334;9469622;9578570", "class_list": "", "function": "Appears to assist hemostasis by binding thrombin and promoting its association with phospholipid vesicles. Inhibits activity of the coagulation protease factor Xa in the presence of SERPINA10, calcium and phospholipids., [UniProtKB]; Association of Protein Z with Prediabetes and Type 2 Diabetes., [RefSeq, PubMed]; Data show that women with intrauterine growth restriction (IUGR) had significantly higher mean plasma concentrations of protein Z compared to women with normal pregnancies., [RefSeq, PubMed]; Expression and diagnostic value of plasma protein Z and protein Z-dependent protease inhibitor in fetal growth restriction., [RefSeq, PubMed]; The Proteolytic Inactivation of Protein Z-Dependent Protease Inhibitor by Neutrophil Elastase Might Promote the Procoagulant Activity of Neutrophil Extracellular Traps in Sepsis., [RefSeq, PubMed]; This gene encodes a liver vitamin K-dependent glycoprotein that is synthesized in the liver and secreted into the plasma. The encoded protein plays a role in regulating blood coagulation by complexing with protein Z-dependent protease inhibitor to directly inhibit activated factor X at the phospholipid surface. Deficiencies in this protein are associated with an increased risk of ischemic arterial diseases and fetal loss. Mutations in this gene are the cause of protein Z deficiency. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 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": 4, "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": 4, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A6NMB4;Q15213;Q5JVF5;Q5JVF6", "ec_number_list": [], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0005796 Golgi lumen;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006508 proteolysis;GO:0007596 blood coagulation", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "P22891-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P23942-1", "uniprot_id": [ { "id": "PRPH2_HUMAN", "url": "https://www.uniprot.org/uniprot/P23942", "type": "external" } ], "mass": 39272.0, "length": 346, "protein_name": "Peripherin-2", "gene_name": "PRPH2", "organism": "Human", "refseq_name": "peripherin-2", "refseq_ac": [ { "id": "NP_000313", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000313", "type": "external" } ], "gene_names_uniprotkb": "PRPH2; PRPH; RDS; TSPAN22", "gene_names_refseq": "AOFMD; AVMD; CACD2; DS; MDBS1; PRPH2; RDS; RP7; TSPAN22; rd2", "protein_names_uniprotkb": "Peripherin-2; Retinal degeneration slow protein; Tetraspanin-22; Tspan-22", "protein_names_refseq": "choroidal dystrophy, central areolar 2; peripherin 2 (retinal degeneration, slow); peripherin 2, homolog of mouse; peripherin, photoreceptor type; peripherin-2; retinal degeneration slow protein; retinal peripherin; tetraspanin-22; tspan-22", "tax_id": 9606, "disease": "vitelliform macular dystrophy (Disease Ontology:DOID:0050661); patterned macular dystrophy (Disease Ontology:DOID:0060863); patterned macular dystrophy 1 (Disease Ontology:DOID:0060866); retinitis pigmentosa 7 (Disease Ontology:DOID:0110383); retinitis pigmentosa (Disease Ontology:DOID:10584); fundus albipunctatus (Disease Ontology:DOID:11105); Leber congenital amaurosis (Disease Ontology:DOID:14791); macular degeneration (Disease Ontology:DOID:4448); retinal disease (Disease Ontology:DOID:5679); retinal degeneration (Disease Ontology:DOID:8466); fundus dystrophy (Disease Ontology:DOID:8501); choroidal sclerosis (Disease Ontology:DOID:980); partial central choroid dystrophy (Disease Ontology:DOID:9822)", "pathway": " (hsa:5961)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "10627133;11485765;1427912;14557182;15370544;16024869;1679750;16799052;16832026;1684223;1749427;17653047;19038374;20213611;20335603;22334370;25447119;26796962;36563963;37047703;37164409;38474159;7493155;7519821;7862413;8019570;8020945;8045710;8058286;8485574;8485576;8956033;9331261;9338584;9443872", "class_list": "", "function": "Clinical Heterogeneity in Two Siblings Harbouring a Heterozygous PRPH2 Pathogenic Variant., [RefSeq, PubMed]; Essential for retina photoreceptor outer segment disk morphogenesis, may also play a role with ROM1 in the maintenance of outer segment disk structure (By similarity). Required for the maintenance of retinal outer nuclear layer thickness (By similarity). Required for the correct development and organization of the photoreceptor inner segment (By similarity)., [UniProtKB, UniProtKB]; New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review. Review article Publication Status: Online-Only, [RefSeq, PubMed]; PRPH2-Associated Retinopathy: Novel Variants and Genotype-Phenotype Correlations., [RefSeq, PubMed]; PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. [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": 31, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 13, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q5TFH5;Q6DK65", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0001917 photoreceptor inner segment;GO:0001750 photoreceptor outer segment", "go_biological_process": "GO:0009645 response to low light intensity stimulus;GO:0007155 cell adhesion;GO:0072659 protein localization to plasma membrane;GO:0007601 visual perception;GO:0051604 protein maturation", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "P23942-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P25105-1", "uniprot_id": [ { "id": "PTAFR_HUMAN", "url": "https://www.uniprot.org/uniprot/P25105", "type": "external" } ], "mass": 39203.0, "length": 342, "protein_name": "Platelet-activating factor receptor", "gene_name": "PTAFR", "organism": "Human", "refseq_name": "platelet-activating factor receptor", "refseq_ac": [ { "id": "NP_000943", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000943", "type": "external" } ], "gene_names_uniprotkb": "PTAFR; PAFR", "gene_names_refseq": "PAFR; PTAFR", "protein_names_uniprotkb": "Platelet-activating factor receptor; PAF-R; PAFr", "protein_names_refseq": "PAF-R; platelet-activating factor receptor", "tax_id": 9606, "disease": "pleurisy (Disease Ontology:DOID:10247); sciatic neuropathy (Disease Ontology:DOID:11446); neutropenia (Disease Ontology:DOID:1227); transient cerebral ischemia (Disease Ontology:DOID:224); glomerulonephritis (Disease Ontology:DOID:2921); acute kidney failure (Disease Ontology:DOID:3021); conjunctivitis (Disease Ontology:DOID:6195); perinatal necrotizing enterocolitis (Disease Ontology:DOID:8677)", "pathway": " (hsa:5724); (R-HSA-373076); (R-HSA-416476); (R-HSA-6783783); (R-HSA-6798695); (R-HSA-877300)", "pathway_count": 6, "publication_count": 171, "publication_id_list": "10067896;10092818;10191087;10391209;10415057;10433356;10567430;10727532;10861009;10986460;11015615;11742120;11753430;11972023;12040185;12120503;12438563;12446674;12522134;12524422;12554859;12626585;1281995;12832402;12915721;12955148;1322356;1374385;1396683;14586410;1460289;14617636;14722222;1508672;15141213;15143187;15280385;15322115;15326175;15388922;15530433;15919823;15929991;15951850;16182515;16237089;16268778;16339447;16467876;16540462;1656963;1657923;16709866;16754659;16754668;16844083;16923326;16982608;17125875;17139494;17339491;17462861;17876302;18362138;18434541;18515384;18577758;18588883;18591661;18936096;1905813;1940369;1940799;20049711;20130243;20145033;20304997;20363976;21796212;2263478;23061660;23650620;24417533;24743777;25502872;2841328;28467828;29242379;29557506;29769354;30429286;3086311;31848261;32162841;32350084;32434939;32627147;32983136;33043033;33091337;33239784;33278709;33392160;33912179;34078123;34087483;34357683;34571986;35051231;35154160;35580925;7498464;7510216;7512027;7512451;7514165;7516408;7530745;7543512;7568007;7593617;7594602;7615558;7617032;7657660;7673114;7684412;7687627;7689702;7690989;7775459;7796299;7902377;7937899;7946354;8063757;8102388;8120391;8156998;8163946;8176225;8186324;8301137;8383507;8483949;8530158;8537680;8550631;8631301;8662928;8664309;8692836;8734788;8742066;8871669;8897595;8910398;8921438;8946277;9013939;9111318;9143706;9305846;9312047;9354687;9449724;9550426;9770463;9794440;9836587;9918218", "class_list": "", "function": "PAF-R on activated T cells: Role in the IL-23/Th17 pathway and relevance to multiple sclerosis., [RefSeq, PubMed]; Particulate matter exposure promotes Pseudomonas aeruginosa invasion into airway epithelia by upregulating PAFR via the ROS-mediated PI3K pathway., [RefSeq, PubMed]; Receptor for platelet activating factor, a chemotactic phospholipid mediator that possesses potent inflammatory, smooth-muscle contractile and hypotensive activity. Seems to mediate its action via a G protein that activates a phosphatidylinositol-calcium second messenger system., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The Platelet-Activating Factor Receptor's Association with the Outcome of Ovarian Cancer Patients and Its Experimental Inhibition by Rupatadine. Publication Status: Online-Only, [RefSeq, PubMed]; Thermal Burn Injury Generates Bioactive Microvesicles: Evidence for a Novel Transport Mechanism for the Lipid Mediator Platelet-Activating Factor (PAF) That Involves Subcellular Particles and the PAF Receptor., [RefSeq, PubMed]; This gene encodes a seven-transmembrane G-protein-coupled receptor for platelet-activating factor (PAF) that localizes to lipid rafts and/or caveolae in the cell membrane. PAF (1-0-alkyl-2-acetyl-sn-glycero-3-phosphorylcholine) is a phospholipid that plays a significant role in oncogenic transformation, tumor growth, angiogenesis, metastasis, and pro-inflammatory processes. Binding of PAF to the PAF-receptor (PAFR) stimulates numerous signal transduction pathways including phospholipase C, D, A2, mitogen-activated protein kinases (MAPKs), and the phosphatidylinositol-calcium second messenger system. Following PAFR activation, cells become rapidly desensitized and this refractory state is dependent on PAFR phosphorylation, internalization, and down-regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 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": 10, "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": "A3KMC8;A8K2H5", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0005543 phospholipid binding;GO:0001530 lipopolysaccharide binding;GO:0045028 G protein-coupled purinergic nucleotide receptor activity;GO:0001875 lipopolysaccharide immune receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070821 tertiary granule membrane;GO:0030667 secretory granule membrane", "go_biological_process": "GO:0006935 chemotaxis;GO:0006954 inflammatory response;GO:0006955 immune response;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007200 phospholipase C-activating G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 17.2, "record_id": "P25105-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P48651-1", "uniprot_id": [ { "id": "PTSS1_HUMAN", "url": "https://www.uniprot.org/uniprot/P48651", "type": "external" } ], "mass": 55528.0, "length": 473, "protein_name": "Phosphatidylserine synthase 1", "gene_name": "PTDSS1", "organism": "Human", "refseq_name": "phosphatidylserine synthase 1 isoform 2", "refseq_ac": [ { "id": "NP_001277154", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277154", "type": "external" } ], "gene_names_uniprotkb": "PTDSS1; KIAA0024; PSSA", "gene_names_refseq": "LMHD; PSS1; PSSA; PTDSS1", "protein_names_uniprotkb": "Phosphatidylserine synthase 1; 2.7.8.29; PSS-1; PtdSer synthase 1; Serine-exchange enzyme I", "protein_names_refseq": "PSS-1; phosphatidylserine synthase 1 isoform 2; ptdSer synthase 1; serine-exchange enzyme I", "tax_id": 9606, "disease": "Lenz-Majewski hyperostotic dwarfism (Disease Ontology:DOID:0111507)", "pathway": " (hsa:9791); (R-HSA-1483101)", "pathway_count": 2, "publication_count": 74, "publication_id_list": "11237011;17081983;18220336;18669648;18691976;19007248;19014349;19369195;19651622;19691289;20068231;20112406;23186163;23481700;24241535;24715725;25418920;25645385;25892735;26154972;26375851;26929215;26992070;27044099;27600516;27846572;27862975;27920218;28218747;28228285;28510447;28832583;28834231;28904123;29242379;29341480;29393594;29437277;29557506;29632046;29632711;29769354;29786170;30315122;30410026;30429286;30833945;31154438;31231513;31530632;31844290;31848261;31998317;32157095;32265295;32387766;32488085;32983136;33214551;33298915;33592498;33717175;33912179;33936100;34171305;34509645;34516042;34561969;35051231;35580925;36284347;37714410;37938771;9642289", "class_list": "", "function": "Catalyzes a base-exchange reaction in which the polar head group of phosphatidylethanolamine (PE) or phosphatidylcholine (PC) is replaced by L-serine (PubMed:19014349, PubMed:24241535). Catalyzes mainly the conversion of phosphatidylcholine (PubMed:19014349, PubMed:24241535). Also converts, in vitro and to a lesser extent, phosphatidylethanolamine (PubMed:19014349, PubMed:24241535)., [UniProtKB, PubMed, PubMed]; Disease-related PSS1 mutant impedes the formation and function of osteoclasts., [RefSeq, PubMed]; PSS1 mutations not only affect cellular PS levels and distribution but also lead to a more complex imbalance in lipid homeostasis by disturbing PI4P metabolism., [RefSeq, PubMed]; Purification and characterization of human phosphatidylserine synthases 1 and 2., [RefSeq, PubMed]; The protein encoded by this gene catalyzes the formation of phosphatidylserine from either phosphatidylcholine or phosphatidylethanolamine. Phosphatidylserine localizes to the mitochondria-associated membrane of the endoplasmic reticulum, where it serves a structural role as well as a signaling role. Defects in this gene are a cause of Lenz-Majewski hyperostotic dwarfism. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]., [RefSeq]; Topology of phosphatidylserine synthase 1 in the endoplasmic reticulum membrane., [RefSeq, PubMed]; Used transpose-mediated transgenesis to attempt to stably express wild-type and mutant forms of human PTDSS1 ubiquitously or specifically in chondrocytes, osteoblasts or osteoclasts in zebrafish Publication Status: Online-Only, [RefSeq, PubMed]; We report here three patients with LMS and heterozygous mutations in PTDSS1. We describe an adult phenotype and two novel PTDSS1 mutations. We suggest that LMS should be considered in the differential diagnosis of a newborn with CL. 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": 10, "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": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DE85;E5RFC5;Q9BUQ5", "ec_number_list": [ { "id": "2.7.8.29", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.8.29", "type": "external" } ], "go_molecular_function": "GO:0016740 transferase activity;GO:0106258 L-serine-phosphatidylcholine phosphatidyltransferase activity;GO:0106245 L-serine-phosphatidylethanolamine phosphatidyltransferase activity", "go_cellular_component": "GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006659 phosphatidylserine biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "P48651-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51888-1", "uniprot_id": [ { "id": "PRELP_HUMAN", "url": "https://www.uniprot.org/uniprot/P51888", "type": "external" } ], "mass": 43810.0, "length": 382, "protein_name": "Prolargin", "gene_name": "PRELP", "organism": "Human", "refseq_name": "prolargin precursor", "refseq_ac": [ { "id": "NP_002716", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002716", "type": "external" } ], "gene_names_uniprotkb": "PRELP; SLRR2A", "gene_names_refseq": "MST161; MSTP161; PRELP; SLRR2A", "protein_names_uniprotkb": "Prolargin; Proline-arginine-rich end leucine-rich repeat protein", "protein_names_refseq": "55 kDa leucine-rich repeat protein of articular cartilage; prolargin precursor; prolargin proteoglycan; proline-arginine-rich end leucine-rich repeat protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:5549); (R-HSA-2022854); (R-HSA-2022857); (R-HSA-3656225); (R-HSA-3656243); (R-HSA-3656244)", "pathway_count": 6, "publication_count": 66, "publication_id_list": "10206952;10491328;10504389;11007795;11017086;11030741;11042166;11042394;11283017;11588157;11821425;11901181;12218059;12888274;1463457;15013869;1522213;15486459;15560372;15620693;15647514;17021253;17120046;1714903;1794986;1907800;19159218;1928092;20232353;21907012;22940367;23252400;27726376;28904123;29557506;2971395;29741879;30315122;30429286;30459171;31154438;31848261;3196333;32157095;32387766;35051231;35580925;36371227;37074911;37730606;37938771;38034954;38992455;39151326;39244119;5822067;7213753;7592739;8333853;8611500;8920913;8954791;9405439;9417100;9521684;9597550", "class_list": "", "function": "Adipocyte-secreted PRELP promotes adipocyte differentiation and adipose tissue fibrosis by binding with p75[NTR] to activate FAK/MAPK signaling., [RefSeq, PubMed]; Correlation of the tumor escape phenotype with loss of PRELP expression in melanoma. Publication Status: Online-Only, [RefSeq, PubMed]; May anchor basement membranes to the underlying connective tissue., [UniProtKB, UniProtKB]; PRELP inhibits the progression of oral squamous cell carcinoma via inactivation of the NF-kappaB pathway., [RefSeq, PubMed]; PRELP reduce cell stiffness and adhesion to promote the growth and metastasis of colorectal cancer cells by binding to integrin alpha5., [RefSeq, PubMed]; Repression of the PRELP gene is relieved by histone deacetylase inhibitors through acetylation of histone H2B lysine 5 in bladder cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a leucine-rich repeat protein present in connective tissue extracellular matrix. This protein functions as a molecule anchoring basement membranes to the underlying connective tissue. This protein has been shown to bind type I collagen to basement membranes and type II collagen to cartilage. It also binds the basement membrane heparan sulfate proteoglycan perlecan. This protein is suggested to be involved in the pathogenesis of Hutchinson-Gilford progeria (HGP), which is reported to lack the binding of collagen in basement membranes and cartilage. Alternatively spliced transcript variants encoding the same protein have been observed. [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": 4, "reported_o_glycosites": 1, "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": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 3939, "biomarker_type": "", "glycan_count": 176, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q6FG38", "ec_number_list": [], "go_molecular_function": "GO:0008201 heparin binding;GO:0005201 extracellular matrix structural constituent;GO:0030021 extracellular matrix structural constituent conferring compression resistance", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005796 Golgi lumen;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome", "go_biological_process": "GO:0001501 skeletal system development", "synthesized_glycan_count": 0, "hit_score": 25.0, "record_id": "P51888-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2L4Q9-1", "uniprot_id": [ { "id": "PRS53_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2L4Q9", "type": "external" } ], "mass": 58410.0, "length": 553, "protein_name": "Serine protease 53", "gene_name": "PRSS53", "organism": "Human", "refseq_name": "serine protease 53 precursor", "refseq_ac": [ { "id": "NP_001034592", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034592", "type": "external" } ], "gene_names_uniprotkb": "PRSS53", "gene_names_refseq": "POL3S; PRSS53; UNQ308", "protein_names_uniprotkb": "Serine protease 53; 3.4.21.-; Polyserase-3; Polyserine protease 3", "protein_names_refseq": "EDTP308; polyserase-3; polyserine protease 3; protease, serine 53; serine protease 53 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:339105)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "16566820;35051231", "class_list": "", "function": "Comparative analysis of polyserase-3 with the two human polyserases described to date, revealed that this novel polyprotein is more closely related to polyserase-2 than to polyserase-1. Publication Status: Online-Only, [RefSeq, PubMed]; In vitro can degrade the fibrinogen alpha chain of as well as pro-urokinase-type plasminogen activator., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q2L4Q9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T870-1", "uniprot_id": [ { "id": "PRR9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T870", "type": "external" } ], "mass": 12904.0, "length": 116, "protein_name": "Proline-rich protein 9", "gene_name": "PRR9", "organism": "Human", "refseq_name": "proline-rich protein 9", "refseq_ac": [ { "id": "NP_001182500", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182500", "type": "external" } ], "gene_names_uniprotkb": "PRR9", "gene_names_refseq": "PRR9", "protein_names_uniprotkb": "Proline-rich protein 9", "protein_names_refseq": "proline-rich protein 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:574414)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q5T870-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6DKI7-1", "uniprot_id": [ { "id": "PVRIG_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6DKI7", "type": "external" } ], "mass": 34344.0, "length": 326, "protein_name": "Transmembrane protein PVRIG", "gene_name": "PVRIG", "organism": "Human", "refseq_name": "transmembrane protein PVRIG isoform 1", "refseq_ac": [ { "id": "NP_076975", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_076975", "type": "external" } ], "gene_names_uniprotkb": "PVRIG; C7orf15", "gene_names_refseq": "C7orf15; CD112R; PVRIG", "protein_names_uniprotkb": "Transmembrane protein PVRIG; CD112 receptor; CD112R; Poliovirus receptor-related immunoglobulin domain-containing protein", "protein_names_refseq": "CD112 receptor; nectin-2 receptor; poliovirus receptor related immunoglobulin domain containing; poliovirus receptor-related immunoglobulin domain-containing protein; transmembrane protein PVRIG isoform 1; transmembrane protein PVRIG", "tax_id": 9606, "disease": "", "pathway": " (hsa:79037)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11237011;16926269;26755705;28228285;28467828;28623459;28832583;29242379;29314611;29557506;29769354;30429286;30659054;31530632;31844290;32350084;33147937;33298247;33903974;35051231;36241641;36788088;38626767", "class_list": "", "function": "Blockade of TIGIT or CD112R, separately or together, enhances trastuzumab-triggered antitumor response by human NK cells., [RefSeq, PubMed]; COM902, a novel therapeutic antibody targeting TIGIT augments anti-tumor T cell function in combination with PVRIG or PD-1 pathway blockade., [RefSeq, PubMed]; Cell surface receptor for NECTIN2. May act as a coinhibitory receptor that suppresses T-cell receptor-mediated signals. Following interaction with NECTIN2, inhibits T-cell proliferation. Competes with CD226 for NECTIN2-binding., [UniProtKB, PubMed]; Describe CD112R, a member of poliovirus receptor-like proteins, as a new coinhibitory receptor for T cells. CD112R is preferentially expressed on T cells and inhibits T cell receptor-mediated signals., [RefSeq, PubMed]; Hitting the complexity of the TIGIT-CD96-CD112R-CD226 axis for next-generation cancer immunotherapy. Review article, [RefSeq, PubMed]; Nonredundant Upregulation of CD112R (PVRIG) and PD-1 on Cytotoxic T Lymphocytes Located in T Cell Nests of Colorectal Cancer., [RefSeq, PubMed]; PVRIG is a novel NK cell immune checkpoint receptor in acute myeloid leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; Structural basis for the immune recognition and selectivity of the immune receptor PVRIG for ligand Nectin-2., [RefSeq, PubMed]; We demonstrate that PVRIG and PVRL2 are expressed in human cancers and the PVRIG-PVRL2 and TIGIT-PVR pathways are nonredundant inhibitory signaling pathways., [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": 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": 2, "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": "D6W5U9;Q9BVK3", "ec_number_list": [], "go_molecular_function": "GO:0019902 phosphatase binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050860 negative regulation of T cell receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q6DKI7-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6GMV3-1", "uniprot_id": [ { "id": "PTRD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6GMV3", "type": "external" } ], "mass": 15805.0, "length": 140, "protein_name": "Putative peptidyl-tRNA hydrolase PTRHD1", "gene_name": "PTRHD1", "organism": "Human", "refseq_name": "putative peptidyl-tRNA hydrolase PTRHD1", "refseq_ac": [ { "id": "NP_001013685", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013685", "type": "external" } ], "gene_names_uniprotkb": "PTRHD1; C2orf79", "gene_names_refseq": "C2orf79; NEDPBA; PTRHD1", "protein_names_uniprotkb": "Putative peptidyl-tRNA hydrolase PTRHD1; 3.1.1.29; Peptidyl-tRNA hydrolase domain-containing protein 1", "protein_names_refseq": "peptidyl-tRNA hydrolase domain-containing protein 1; putative peptidyl-tRNA hydrolase PTRHD1", "tax_id": 9606, "disease": "neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities (MONDO:MONDO:0958323)", "pathway": " (hsa:391356)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "19608861;26375851;27134041;27235175;27753167;28510447;28855257;30398675;31844290;31848261;33004232;34246528;34765690;34816696;35580925;35848037;38286424;38665916", "class_list": "", "function": "Analysis of PTRHD1 common and rare variants in European patients with Parkinson's disease., [RefSeq, PubMed]; As a putative peptidyl-tRNA hydrolase, it might be involved in releasing tRNAs from the ribosome during protein synthesis (Probable). Some evidence, however, suggests that it lacks peptidyl-tRNA hydrolase activity (PubMed:27235175)., [UniProtKB, PubMed]; Lack of PTRHD1 mutation in patients with young-onset and familial Parkinson's disease in a Taiwanese population., [RefSeq, PubMed]; PTRHD1 mutation leads to intellectual disability and parkinsonism in a consanguineous family., [RefSeq, PubMed]; Rare Variant Analysis of PTRHD1 in Parkinson's Disease in the Chinese Population., [RefSeq, PubMed]; This gene encodes the enzyme peptidyl-tRNA hydrolase. Peptidyl-tRNA hydrolases perform the essential function of recycling peptidyl-tRNAs. Mutations in this gene are associated with autosomal-recessive intellectual disability and parkinsonism. [provided by RefSeq, May 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 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": "", "ec_number_list": [ { "id": "3.1.1.29", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.29", "type": "external" } ], "go_molecular_function": "GO:0004045 peptidyl-tRNA hydrolase activity", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q6GMV3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UWS5-1", "uniprot_id": [ { "id": "PT117_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UWS5", "type": "external" } ], "mass": 9223.0, "length": 81, "protein_name": "Protein PET117 homolog, mitochondrial", "gene_name": "PET117", "organism": "Human", "refseq_name": "protein PET117 homolog, mitochondrial precursor", "refseq_ac": [ { "id": "NP_001158283", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158283", "type": "external" } ], "gene_names_uniprotkb": "PET117; PRO1194", "gene_names_refseq": "CSRP2BP; MC4DN19; PET117", "protein_names_uniprotkb": "Protein PET117 homolog, mitochondrial", "protein_names_refseq": "alternative protein CSRP2BP; protein PET117 homolog, mitochondrial precursor; protein PET117 homolog, mitochondrial", "tax_id": 9606, "disease": "mitochondrial complex IV deficiency nuclear type 19 (Disease Ontology:DOID:0070504)", "pathway": " (hsa:100303755); (R-HSA-9864848)", "pathway_count": 2, "publication_count": 53, "publication_id_list": "12975309;19503089;19531498;22342701;22356826;23125284;23260140;23345593;23746447;24403053;25576301;25926683;25959673;26154972;26321642;26375851;26992070;27693358;28082314;28199844;28218747;28330871;28386624;29154948;29437277;29508533;29557506;30315122;30779550;31154438;31217245;31536960;31844290;31848261;32157095;32317297;32375044;32387766;32488085;32502341;32938616;32983136;33141586;33968037;34357683;34405274;34969438;35580925;35750769;36215666;36241641;37938771;9843204", "class_list": "", "function": "Case presentation thus implicates mutations in PET117 as a novel cause of mitochondrial disease, [RefSeq, PubMed]; Ortholog of fungal COX assembly protein PET117 Publication Status: Online-Only, [RefSeq, PubMed]; The short isoform of the myofibrillogenesis regulator 1 (MR-1S) as a new COX assembly factor, which works with the highly conserved PET100 and PET117 chaperones to assist COX biogenesis in higher eukaryotes., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "GO:0033617 mitochondrial respiratory chain complex IV assembly", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q6UWS5-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZW05-1", "uniprot_id": [ { "id": "PTHD4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZW05", "type": "external" } ], "mass": 96371.0, "length": 846, "protein_name": "Patched domain-containing protein 4", "gene_name": "PTCHD4", "organism": "Human", "refseq_name": "patched domain-containing protein 4 isoform 1", "refseq_ac": [ { "id": "NP_001013754", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013754", "type": "external" } ], "gene_names_uniprotkb": "PTCHD4; C6orf138; PTCH53", "gene_names_refseq": "C6orf138; PTCH53; PTCHD4; SLC65C2; dJ402H5.2", "protein_names_uniprotkb": "Patched domain-containing protein 4; p53-regulated patched protein", "protein_names_refseq": "p53-regulated patched protein; patched domain-containing protein 4 isoform 1; patched domain-containing protein 4; patched domain-containing protein C6orf138", "tax_id": 9606, "disease": "", "pathway": " (hsa:442213)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;19913121;20628086;25296753;28832583;29393594;29557506;30418433;30429286;32157095;32387766;33981976;34509645;35051231", "class_list": "", "function": "Could act as a repressor of canonical hedgehog signaling by antagonizing the effects of SMO, as suggested by down-regulation of hedgehog target genes, including GLI1, PTCH1, and PTCH2 in PTCHD4-expressing cells., [UniProtKB, PubMed]; Data indicate that tumor suppressor p53 can suppress canonical Hedgehog signaling via induction of patched domain containing 4 (PTCH53), a PTCH1 homolog., [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]", "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": 28, "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": "A0A0A7EN49;B0QZ29;B2RPC0;B4DRK3;B4DTR9;Q5T884", "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": "Q6ZW05-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IYL9-1", "uniprot_id": [ { "id": "GPR65_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IYL9", "type": "external" } ], "mass": 39333.0, "length": 337, "protein_name": "G protein-coupled receptor 65", "gene_name": "GPR65", "organism": "Human", "refseq_name": "G-protein coupled receptor 65", "refseq_ac": [ { "id": "NP_003599", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003599", "type": "external" } ], "gene_names_uniprotkb": "GPR65; TDAG8", "gene_names_refseq": "GPR65; TDAG8; hTDAG8", "protein_names_uniprotkb": "G protein-coupled receptor 65; Psychosine receptor; T-cell death-associated gene 8 protein", "protein_names_refseq": "G-protein coupled receptor 65; T-cell death-associated gene 8 protein; psychosine receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:8477); (R-HSA-373076); (R-HSA-416476)", "pathway_count": 3, "publication_count": 83, "publication_id_list": "10191087;10567430;10727532;10861009;11015615;11309421;11742120;11753430;12120503;12522134;12524422;12955148;14617636;15141213;15221007;15280385;15326175;15618224;15929991;15951850;16075062;16182515;16268778;16339447;16540462;1656963;16754659;16754668;16844083;16923326;17139494;17339491;17462861;17876302;17924679;18434541;18491316;18515384;18577758;18588883;18936096;1905813;20855608;21796212;2263478;24190977;26550826;26992070;27287411;28228285;28411811;2841328;28832583;29242379;29557506;29632046;30429286;3086311;31092671;31844290;32350084;33478938;33912179;34357683;34561969;35051231;35494241;35580925;37722051;38001521;38527054;39753132;40211064;7498464;7568007;7689702;7775459;7937899;7946354;8664309;9305846;9655242;9770463", "class_list": "", "function": "GPR4 and TDAG8 overexpression in human tumors plays a role in driving or maintaining tumor formation, [RefSeq, PubMed]; Proton-sensing G protein-coupled receptor activated by extracellular pH, which is required to monitor pH changes and generate adaptive reactions (PubMed:15326175, PubMed:15618224, PubMed:20855608, PubMed:33478938, PubMed:37722051, PubMed:39753132, PubMed:40211064). Activated by an optimal pH of 7.4 (PubMed:39753132). 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 (PubMed:15326175, PubMed:15618224, PubMed:37722051, PubMed:39753132). GPR65 is mainly coupled to G(s) G proteins and mediates activation of adenylate cyclase activity (PubMed:15618224, PubMed:37722051, PubMed:39753132). May also act as a receptor for the glycosphingolipid psychosine (PSY) and several related glycosphingolipids (PubMed:11309421, PubMed:15326175). Plays a role in immune response by maintaining lysosome function and regulating T-cell metabolism (PubMed:27287411). Acts as a regulator of inflammation by mediating pH-sensing of extracellular acidification which takes place in inflamed tissues: activation regulates endo-lysosomal function of immune cells and T-cell metabolism (By similarity). Constitutively active in endosomes and stimulates adenylate cyclase production from endosomes independently from extracellular pH changes (PubMed:39753132)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; TDAG8 is one of the proton-sensing GPCRs coupling to adenylyl cyclase and psychosine, and its related lysosphingolipids behave as if they were antagonists against protein-sensing receptors, including TDAG8, GPR4, and OGR1., [RefSeq, PubMed]; TDAG8 may play biological roles in immune response and cellular transformation under conditions accompanying tissue acidosis., [RefSeq, PubMed]; Targeting GPR65 alleviates hepatic inflammation and fibrosis by suppressing the JNK and NF-kappaB pathways. Publication Status: Online-Only, [RefSeq, PubMed]; The proton-sensing receptors TDAG8 and GPR4 are differentially expressed in human and mouse oligodendrocytes: Exploring their role in neuroinflammation and multiple sclerosis. 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": 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": 2, "reported_mutagensis": 12, "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": "O75819", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0031902 late endosome membrane;GO:0031901 early endosome membrane", "go_biological_process": "GO:0006955 immune response;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0006915 apoptotic process;GO:0051496 positive regulation of stress fiber assembly", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "Q8IYL9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99935-1", "uniprot_id": [ { "id": "PROL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99935", "type": "external" } ], "mass": 27217.0, "length": 248, "protein_name": "Opiorphin prepropeptide", "gene_name": "OPRPN", "organism": "Human", "refseq_name": "opiorphin prepropeptide isoform 1 precursor", "refseq_ac": [ { "id": "NP_067048", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067048", "type": "external" } ], "gene_names_uniprotkb": "OPRPN; BPLP; PROL1", "gene_names_refseq": "BPLP; OPRPN; PRL1; PROL1; opiorphin", "protein_names_uniprotkb": "Opiorphin prepropeptide; Basic proline-rich lacrimal protein; PRL1; Proline-rich protein 1", "protein_names_refseq": "basic proline-rich lacrimal protein; basic proline-rich protein; opiorphin prepropeptide isoform 1 precursor; proline rich, lacrimal 1; proline-rich 1; proline-rich protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:58503)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "40667337;17101991;18410445;24715725;25946035;31154438;33593085;35051231;35636040;8670737", "class_list": "", "function": "All members of the human opiorphin family of genes can potentially modulate erectile physiology. Both hSMR3 and ProL1 are down-regulated in the corpora of men with ED, and therefore both genes can potentially act as markers of ED., [RefSeq, PubMed]; Opiorphin is an endogenous inhibitor of neprilysin and aminopeptidase N. Inhibits the breakdown of substance P, Mca-BK2 and Met-enkephalin by neprilysin in vitro with IC(50) values of 29 uM, 33 uM and 33 uM respectively. Inhibits the breakdown of Ala-pNA by aminopeptidase N in vitro with an IC(50) of 65 uM. Has a potent analgesic effect when administered to rats by intravenous injection., [UniProtKB, PubMed]; Relationship between saliva opiorphin levels, pain threshold, and cutting number in adolescents with non suicidal self injury., [RefSeq, PubMed]; Results report the discovery of opiorphin, a previously uncharacterized physiological inhibitor of enkephalin-inactivating zinc ectopeptidases in humans., [RefSeq, PubMed]; Role of opiorphin genes in prostate cancer growth and progression., [RefSeq, PubMed]; This gene encodes a member of the proline-rich protein family. The encoded protein has multiple proposed functions, including roles in pain suppression, penile erection, and protection of the eye surface. The QRFSR pentapeptide, known as opiorphin, is derived from the N-terminal of this protein. Opiorphin inhibits the enkephalin-inactivating peptidases neprilysin and aminopeptidase N, and this activity is thought to reduce sensitivity to painful stimuli by effecting enkephalin-related activation of opioid-dependent pathways. Opiorphin may also act as an anti-depressant. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 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": 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": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 2954, "biomarker_type": "", "glycan_count": 6, "disease_count": 0, "glyco_site_count": 17, "binding_glycan_count": 0, "secondary_ac_list": "A8MZ07;P85047", "ec_number_list": [], "go_molecular_function": "GO:0030414 peptidase inhibitor activity;GO:0004866 endopeptidase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0051930 regulation of sensory perception of pain", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q99935-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULL5-3", "uniprot_id": [ { "id": "PRR12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULL5", "type": "external" } ], "mass": 211044.0, "length": 2036, "protein_name": "Proline-rich protein 12", "gene_name": "PRR12", "organism": "Human", "refseq_name": "proline-rich protein 12", "refseq_ac": [ { "id": "NP_065770", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065770", "type": "external" } ], "gene_names_uniprotkb": "PRR12; KIAA1205", "gene_names_refseq": "KIAA1205; NOC; PRR12", "protein_names_uniprotkb": "Proline-rich protein 12", "protein_names_refseq": "proline-rich protein 12", "tax_id": 9606, "disease": "neuroocular syndrome 1 (MONDO:MONDO:0971007)", "pathway": " (hsa:57479)", "pathway_count": 1, "publication_count": 85, "publication_id_list": "17081983;18220336;18669648;19608861;19690332;20068231;21406692;22544926;22898188;23186163;23481700;24275569;24366607;25576301;25645385;26163108;26375851;26992070;27862975;27920218;28063628;28228285;28514659;28832583;29237092;29242379;29393594;29493099;29508533;29556724;29557506;29632046;29786170;30315122;30429286;30524438;30620550;31092671;31154438;31492838;31844290;31848261;31937595;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32938750;32983136;33141586;33298915;33314030;33537174;33592498;33691108;33824499;33912179;33936100;33968037;33981976;34019948;34171305;34185709;34357683;34405274;34509645;34846842;35051231;35254053;35289036;35318648;35580925;36010968;36284347;37541260;37938771;38665916;39531497;39534244;39742660", "class_list": "", "function": "Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia., [RefSeq, PubMed]; Here we report on three unrelated patients with heterozygous de novo apparent loss-of-function mutations in PRR12 detected by clinical whole exome sequencing: c.1918G>T (p.Glu640*), c.4502_4505delTGCC (p.Leu1501Argfs*146) and c.903_909dup (p.Pro304Thrfs*46). All three patients had global developmental delay, intellectual disability, eye and vision abnormalities, dysmorphic features, and neuropsychiatric problems, [RefSeq, PubMed]; May play a role in the regulation of cohesin complex loading onto chromatin, probably acting in coordination with NIPBL and MAU2., [UniProtKB, PubMed]; This case represents the first constitutional balanced translocation disrupting and fusing both MIZ-type containing and proline-rich 12 and provides clues for the potential function and effects of these in the central nervous system., [RefSeq, PubMed]; This gene encodes a proline-rich protein that contains two A-T hook DNA binding domains. A chromosomal translocation and gene fusion between this gene and zinc finger, MIZ-type containing 1 (Gene ID: 57178) may underlie intellectual disability and neuropsychiatric problems in a human patient. Enriched expression of this gene in embryonic mouse brain suggests that this gene may play a role in nervous system development. [provided by RefSeq, Jul 2016]., [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": 12, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 12, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 12, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 16, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 56, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 17, "binding_glycan_count": 0, "secondary_ac_list": "E9PB06;Q8N4J6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0014069 postsynaptic density;GO:0043005 neuron projection", "go_biological_process": "GO:0008104 intracellular protein localization", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "Q9ULL5-3", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2Y8-1", "uniprot_id": [ { "id": "PRG3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2Y8", "type": "external" } ], "mass": 25406.0, "length": 225, "protein_name": "Proteoglycan 3", "gene_name": "PRG3", "organism": "Human", "refseq_name": "proteoglycan 3 precursor", "refseq_ac": [ { "id": "NP_006084", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006084", "type": "external" } ], "gene_names_uniprotkb": "PRG3; MBPH; PRO1002", "gene_names_refseq": "MBP2; MBPH; PRG3", "protein_names_uniprotkb": "Proteoglycan 3; Eosinophil major basic protein homolog; Prepro-MBPH; Prepro-major basic protein homolog", "protein_names_refseq": "eosinophil major basic protein homolog; prepro-MBPH; prepro-major basic protein homolog; proteoglycan 3 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:10394); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "10318872;11170744;12975309;17136616;21048031;23650620;29557506;8692836", "class_list": "glycogene", "function": "Contains 2 cysteine disulfide linkages (Cys20-Cys115 and Cys92-Cys107) and 6 cysteine residues with free sulfhydryl groups (Cys2, Cys23, Cys42, Cys43, Cys68, and Cys96). Amino acid positions are not based on the full-length protein sequence., [RefSeq, PubMed]; Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator), [RefSeq, PubMed]; Possesses similar cytotoxic and cytostimulatory activities to PRG2/MBP. In vitro, stimulates neutrophil superoxide production and IL8 release, and histamine and leukotriene C4 release from basophils., [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": 328, "reported_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:0030246 carbohydrate binding;GO:0030021 extracellular matrix structural constituent conferring compression resistance", "go_cellular_component": "GO:0005576 extracellular region;GO:0031012 extracellular matrix;GO:0035580 specific granule lumen;GO:1904724 tertiary granule lumen", "go_biological_process": "GO:0006955 immune response;GO:0017148 negative regulation of translation;GO:0032757 positive regulation of interleukin-8 production;GO:0019370 leukotriene biosynthetic process;GO:0042119 neutrophil activation", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q9Y2Y8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6I8-1", "uniprot_id": [ { "id": "PXMP4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6I8", "type": "external" } ], "mass": 24264.0, "length": 212, "protein_name": "Peroxisomal membrane protein 4", "gene_name": "PXMP4", "organism": "Human", "refseq_name": "peroxisomal membrane protein 4 isoform a", "refseq_ac": [ { "id": "NP_009169", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009169", "type": "external" } ], "gene_names_uniprotkb": "PXMP4; PMP24", "gene_names_refseq": "PMP24; PXMP4", "protein_names_uniprotkb": "Peroxisomal membrane protein 4; 24 kDa peroxisomal intrinsic membrane protein", "protein_names_refseq": "24 kDa peroxisomal intrinsic membrane protein; peroxisomal membrane protein 4 isoform a; peroxisomal membrane protein 4, 24kDa", "tax_id": 9606, "disease": "", "pathway": " (hsa:11264); (R-HSA-9603798)", "pathway_count": 2, "publication_count": 76, "publication_id_list": "10366717;10430017;10704444;11230166;11390669;11402059;11453642;11590176;11883941;12751901;12924628;14709540;14712230;15007061;15713480;15781447;16280322;16791427;16895967;16980692;17069900;18174172;18782765;20054818;20531392;20554521;21102411;22544926;22624858;23460677;23481700;23628762;25062251;25418920;25505266;25517356;25576301;25892735;26777132;26992070;27600516;28063628;28218747;28228285;28281558;28325759;28904123;29242379;29393594;29493099;29557506;29632046;29786170;30315122;31844290;32157095;32265295;32357974;32387766;32502341;32897882;32938616;33141586;33298915;33691108;33912179;33968037;33981976;34087483;34171305;34509645;35051231;36215666;38401002;38415547;9418908", "class_list": "", "function": "High Expression of PXMP4 in Hepatocellular Carcinoma Tissues. Publication Status: Online-Only, [RefSeq, PubMed]; PXMP4 promotes gastric cancer cell epithelial-mesenchymal transition via the PI3K/AKT signaling pathway. 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": 9, "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": "A2A2I7;Q9H0T4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005777 peroxisome;GO:0005778 peroxisomal membrane;GO:0005829 cytosol", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q9Y6I8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NEQ0-1", "uniprot_id": [ { "id": "RBY1E_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NEQ0", "type": "external" } ], "mass": 55759.0, "length": 496, "protein_name": "RNA-binding motif protein, Y chromosome, family 1 member E", "gene_name": "RBMY1E", "organism": "Human", "refseq_name": "RNA-binding motif protein, Y chromosome, family 1 member E", "refseq_ac": [ { "id": "NP_001006118", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001006118", "type": "external" } ], "gene_names_uniprotkb": "RBMY1E", "gene_names_refseq": "RBMY1E", "protein_names_uniprotkb": "RNA-binding motif protein, Y chromosome, family 1 member E", "protein_names_refseq": "RNA-binding motif protein, Y chromosome, family 1 member E", "tax_id": 9606, "disease": "", "pathway": " (hsa:378950)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "29557506", "class_list": "", "function": "RNA-binding protein which may be involved in spermatogenesis. Required for sperm development, possibly by participating in pre-mRNA splicing in the testis., [UniProtKB]; This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. [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": "A6NCW6;A6NEG9;A6NKQ5", "ec_number_list": [], "go_molecular_function": "GO:0003729 mRNA binding", "go_cellular_component": "GO:0005681 spliceosomal complex", "go_biological_process": "GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A6NEQ0-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NK89-1", "uniprot_id": [ { "id": "RASFA_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NK89", "type": "external" } ], "mass": 56900.0, "length": 507, "protein_name": "Ras association domain-containing protein 10", "gene_name": "RASSF10", "organism": "Human", "refseq_name": "ras association domain-containing protein 10", "refseq_ac": [ { "id": "NP_001073990", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073990", "type": "external" } ], "gene_names_uniprotkb": "RASSF10", "gene_names_refseq": "RASSF10", "protein_names_uniprotkb": "Ras association domain-containing protein 10", "protein_names_refseq": "Ras association (RalGDS/AF-6) domain family (N-terminal) member 10; ras association domain-containing protein 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:644943)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "18272789;19570220;19934646;20956940;22113481;22415519;25418920;26621454;30833945;33588233;33592498;34171305;34224728;35211758", "class_list": "", "function": "EBV as a high infection risk factor promotes RASSF10 methylation and induces cell proliferation in EBV-associated gastric cancer., [RefSeq, PubMed]; Molecular basis for RASSF10/NPM/RNF2 feedback cascade-mediated regulation of gastric cancer cell proliferation., [RefSeq, PubMed]; Plays an important role in regulating embryonic neurogenesis., [UniProtKB, UniProtKB]; RASSF10 exhibits tumorsuppressing potential involving tumor proliferation, metastasis and epithelialmesenchymal transition in esophageal squamous cell carcinoma., [RefSeq, PubMed]; RASSF10 may encode a novel epigenetically inactivated candidate tumor suppressor gene in thyroid carcinogenesis., [RefSeq, PubMed]; Sequencing revealed RASSF6 and RASSF10 were the only RASSF members with a high frequency of leukaemia-specific methylation. Publication Status: Online-Only, [RefSeq, PubMed]; The RASSF10 promoter was hypermethylated in all malignant melanoma (MM) cell lines, 19/28 of the primary MM, 30/33 of the MM metastases, 2/18 of the dysplastic nevus cell nevi, and 0/29 of the non-dysplastic nevus cell nevi., [RefSeq, PubMed]; The study demonstrates the frequent epigenetic inactivation of RASSF10 in PCa and its implication in clinical symptoms of PCa., [RefSeq, PubMed]; This is the first report demonstrating that RASSF10 can act as a tumor suppressor gene and is frequently methylated in gliomas, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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:0000922 spindle pole;GO:0005813 centrosome;GO:0005829 cytosol", "go_biological_process": "GO:0007165 signal transduction;GO:0007399 nervous system development;GO:2000179 positive regulation of neural precursor cell proliferation;GO:0050769 positive regulation of neurogenesis", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "A6NK89-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C0E4-1", "uniprot_id": [ { "id": "RB40L_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C0E4", "type": "external" } ], "mass": 31239.0, "length": 278, "protein_name": "Ras-related protein Rab-40A-like", "gene_name": "RAB40AL", "organism": "Human", "refseq_name": "ras-related protein Rab-40A-like", "refseq_ac": [ { "id": "NP_001027004", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027004", "type": "external" } ], "gene_names_uniprotkb": "RAB40AL; RLGP", "gene_names_refseq": "MRXSMP; RAB40AL; RAR2; RLGP", "protein_names_uniprotkb": "Ras-related protein Rab-40A-like; 3.6.5.2; Ras-like GTPase", "protein_names_refseq": "RAB40A, member RAS oncogene family-like; Ras like GTPase; SOCS box containing protein RAR2; ras-like GTPase; ras-related protein Rab-40A-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:282808)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "12145744;22581972;24863632;25044830;25370018;26300074;31844290;33912179;35051231", "class_list": "", "function": "Data question the role of RAB40AL mutation as a disease-causing change and the involvement of RAB40AL in Martin-Probst syndrome., [RefSeq, PubMed]; May act as substrate-recognition component of the ECS(RAB40) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (By similarity). The Rab40 subfamily belongs to the Rab family that are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Our findings are inconsistent with a causative effect of RAB40AL p.D59G on cognitive impairment combined with severe to profound bilateral hearing loss but indicate that p.D59G is a common genetic variation., [RefSeq, PubMed]; This gene encodes a member of the Rab40 subfamily of Rab small GTP-binding proteins that contains a C-terminal suppressors of cytokine signaling box. Disruptions in this gene are associated with Duchenne muscular dystrophy. [provided by RefSeq, Apr 2010]., [RefSeq]; This is the first study to show that mutation of RAB40AL is associated with a human disorder., [RefSeq, PubMed]; We herein present an unrelated 20-year-old male with similar manifestations also with p.D59G in the RAB40AL gene, which supports the existence of this condition previously coined as Martin-Probst syndrome, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q495H3", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005768 endosome;GO:0005886 plasma membrane;GO:0008021 synaptic vesicle", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0016567 protein ubiquitination;GO:0006887 exocytosis", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "P0C0E4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DJH9-1", "uniprot_id": [ { "id": "RD3L_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DJH9", "type": "external" } ], "mass": 23209.0, "length": 198, "protein_name": "Protein RD3-like", "gene_name": "RD3L", "organism": "Human", "refseq_name": "protein RD3-like", "refseq_ac": [ { "id": "NP_001244197", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244197", "type": "external" } ], "gene_names_uniprotkb": "RD3L", "gene_names_refseq": "RD3L; TDRD9-AS1; TDRD9AS1", "protein_names_uniprotkb": "Protein RD3-like; Retinal degeneration protein 3-like", "protein_names_refseq": "TDRD9 antisense 1; TDRD9 antisense RNA 1 (non-protein coding); protein RD3-like; retinal degeneration 3 like; retinal degeneration protein 3-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:647286)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "P0DJH9-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q09MP3-1", "uniprot_id": [ { "id": "R51A2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q09MP3", "type": "external" } ], "mass": 133907.0, "length": 1159, "protein_name": "RAD51-associated protein 2", "gene_name": "RAD51AP2", "organism": "Human", "refseq_name": "RAD51-associated protein 2 isoform 1", "refseq_ac": [ { "id": "NP_001092688", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092688", "type": "external" } ], "gene_names_uniprotkb": "RAD51AP2", "gene_names_refseq": "RAD51AP2", "protein_names_uniprotkb": "RAD51-associated protein 2", "protein_names_refseq": "RAD51-associated protein 2 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:729475)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "16990250;30429286;35051231;39894887", "class_list": "", "function": "A novel protein, RAD51AP2, has been discovered that interacts with RAD51 through a C-terminal motif also present in RAD51AP1., [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": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0032991 protein-containing complex", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q09MP3-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14644-1", "uniprot_id": [ { "id": "RASA3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14644", "type": "external" } ], "mass": 95699.0, "length": 834, "protein_name": "Ras GTPase-activating protein 3", "gene_name": "RASA3", "organism": "Human", "refseq_name": "ras GTPase-activating protein 3 isoform 2", "refseq_ac": [ { "id": "NP_001307750", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307750", "type": "external" } ], "gene_names_uniprotkb": "RASA3", "gene_names_refseq": "GAP1IP4BP; GAPIII; RASA3", "protein_names_uniprotkb": "Ras GTPase-activating protein 3; GAP1(IP4BP); Ins P4-binding protein", "protein_names_refseq": "GTPase activating protein III; GTPase-activating protein 1 family, inositol 1,3,4,5-tetrakisphosphate-binding protein; Ins(1,3,4,5)P4-binding protein; ins P4-binding protein; ras GTPase-activating protein 3 isoform 2; ras GTPase-activating protein 3", "tax_id": 9606, "disease": "aplastic anemia (Disease Ontology:DOID:12449)", "pathway": " (hsa:22821); (R-HSA-5658442)", "pathway_count": 2, "publication_count": 77, "publication_id_list": "11493923;12600938;12646235;12787671;15683364;1570011;16478641;18088087;18220336;19433443;19573811;19651622;2121370;21406692;22751498;22802525;23186163;23443682;23661552;24715725;24814062;25294679;25489052;25576301;25892735;26154972;26375851;26992070;27846572;27862975;27903653;28228285;28832583;28834231;29242379;29381707;29493099;29557506;29769354;29786170;30429286;31154438;31222486;31844290;31848261;32157095;32161166;32387766;32488085;32897882;32938616;32983136;33109704;33141586;33392160;33592498;33717175;33912179;33936100;33968037;33981976;34185709;34211107;34932366;35051231;35154160;35561310;35580925;36010968;36284347;36581221;37938771;7637787;8563751;9219684;9302992;9382842", "class_list": "", "function": "GAP1IP4BP is an inositol 1,3,4,5-tetrakisphosphate regulated plasma membrane associated Ras and Rap GAP. Membrane association results from its PH domain binding phosphatidylinositol 4,5-bisphosphate., [RefSeq, PubMed]; Inhibitory regulator of the Ras-cyclic AMP pathway. Binds inositol tetrakisphosphate (IP4) with high affinity. Might be a specific IP4 receptor., [UniProtKB]; Model in which the Ras GAP-related domain of GAP1(IP4BP) functions to stabilize the switch II region of Rap1, allowing stabilization of the transition state during GTP hydrolysis initiated by the arginine finger, [RefSeq, PubMed]; Rasa3 is a critical regulator of Rap1 in endothelial cells which controls adhesions properties and vascular lumen integrity; its specific endothelial cell inactivation results in occluded blood vessels, hemorrhages and early embryonic death in mouse, mimicking thus the Rasa3-/- mouse phenotype. Publication Status: Online-Only, [RefSeq, PubMed]; The function of RASA3 during megakaryopoiesis, megakaryocyte adhesion and migration as well as integrin signaling has been reported. Review article, [RefSeq, PubMed]; These results support an important role for Rasa3 in PI3K-dependent integrin alphaIIbbeta3-mediated outside-in signaling and cell spreading., [RefSeq, PubMed]; This gene encodes a protein that binds inositol 1,3,4,5-tetrakisphosphate and stimulates the GTPase activity of Ras p21. This protein functions as a negative regulator of the Ras signalling pathway. It is localized to the cell membrane via a pleckstrin homology (PH) domain in the C-terminal region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 3, "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": "A6NL15;F8W6X8;Q8IUY2", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0008270 zinc ion binding;GO:0005246 calcium channel regulator activity", "go_cellular_component": "GO:0005829 cytosol;GO:0009898 cytoplasmic side of plasma membrane", "go_biological_process": "GO:0046580 negative regulation of Ras protein signal transduction;GO:0007165 signal transduction;GO:0035556 intracellular signal transduction;GO:0030168 platelet activation;GO:1902531 regulation of intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q14644-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6NUR6-1", "uniprot_id": [ { "id": "R216L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6NUR6", "type": "external" } ], "mass": 5133.0, "length": 42, "protein_name": "Putative protein RNF216-like", "gene_name": "RNF216P1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "RNF216P1; RNF216L", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative protein RNF216-like", "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": "B7Z8S6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q6NUR6-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZP01-1", "uniprot_id": [ { "id": "RBM44_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZP01", "type": "external" } ], "mass": 117985.0, "length": 1051, "protein_name": "RNA-binding protein 44", "gene_name": "RBM44", "organism": "Human", "refseq_name": "RNA-binding protein 44", "refseq_ac": [ { "id": "NP_001073973", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073973", "type": "external" } ], "gene_names_uniprotkb": "RBM44", "gene_names_refseq": "RBM44", "protein_names_uniprotkb": "RNA-binding protein 44; RNA-binding motif protein 44", "protein_names_refseq": "RNA-binding protein 44", "tax_id": 9606, "disease": "", "pathway": " (hsa:375316)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "23481700;29237092;29242379;29671580;33592498", "class_list": "", "function": "Component of intercellular bridges during meiosis. Intercellular bridges are evolutionarily conserved structures that connect differentiating germ cells. Not required for fertility (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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 35, "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": "A0A0A0MR46;A0AUW3", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0003730 mRNA 3'-UTR binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0045171 intercellular bridge;GO:0071013 catalytic step 2 spliceosome", "go_biological_process": "GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q6ZP01-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZTQ3-1", "uniprot_id": [ { "id": "RASF6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZTQ3", "type": "external" } ], "mass": 43384.0, "length": 369, "protein_name": "Ras association domain-containing protein 6", "gene_name": "RASSF6", "organism": "Human", "refseq_name": "ras association domain-containing protein 6 isoform c", "refseq_ac": [ { "id": "NP_001257320", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257320", "type": "external" } ], "gene_names_uniprotkb": "RASSF6", "gene_names_refseq": "RASSF6", "protein_names_uniprotkb": "Ras association domain-containing protein 6", "protein_names_refseq": "Ras association (RalGDS/AF-6) domain family 6; Ras association (RalGDS/AF-6) domain family member 6; putative RAS binding protein; ras association domain-containing protein 6 isoform c; ras association domain-containing protein 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:166824)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "17367779;17404571;18563170;19570220;23481700;25576301;26375851;26992070;28832583;29242379;29508533;29557506;29786170;32350084;32502341;34151476;34171305;34898277;34932366;35048636;35051231;35580925;36284347", "class_list": "", "function": "DNA Damage Triggers the Nuclear Accumulation of RASSF6 Tumor Suppressor Protein via CDK9 and BAF53 To Regulate p53 Target Gene Transcription., [RefSeq, PubMed]; Demonstrates properties of a Ras effector and tumor suppressor but exhibits biological properties that are unique and distinct from those of other family members., [RefSeq, PubMed]; Down-regulation of circITCH promotes osteosarcoma development and resistance to doxorubicin via the miR-524/RASSF6 axis., [RefSeq, PubMed]; Involved in the induction of apoptosis, through both caspase-dependent and caspase-independent pathways. May act as a Ras effector protein. May suppress the serum-induced basal levels of NF-kappa-B (By similarity)., [UniProtKB, PubMed]; Kindlin-3 and RASSF6 are probable biomarkers for predicting metastasis in cutaneous melanoma., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Sequencing revealed RASSF6 and RASSF10 were the only RASSF members with a high frequency of leukaemia-specific methylation. Publication Status: Online-Only, [RefSeq, PubMed]; These findings indicate that RASSF6 is implicated in apoptosis in HeLa cells and that it triggers both caspase-dependent and caspase-independent pathways., [RefSeq, PubMed]; This gene encodes a member of the Ras-association domain family (RASSF). Members of this family form the core of a highly conserved tumor suppressor network, the Salvador-Warts-Hippo (SWH) pathway. The protein encoded by this gene is a Ras effector protein that induces apoptosis. A genomic region containing this gene has been linked to susceptibility to viral bronchiolitis. 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": 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": "Q68DT2;Q6PDA6;Q86WG9;Q86WH0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0007165 signal transduction;GO:0006915 apoptotic process;GO:0042981 regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q6ZTQ3-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IZ41-1", "uniprot_id": [ { "id": "RASEF_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IZ41", "type": "external" } ], "mass": 82879.0, "length": 740, "protein_name": "Ras and EF-hand domain-containing protein", "gene_name": "RASEF", "organism": "Human", "refseq_name": "ras and EF-hand domain-containing protein", "refseq_ac": [ { "id": "NP_689786", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689786", "type": "external" } ], "gene_names_uniprotkb": "RASEF; RAB45", "gene_names_refseq": "RAB45; RASEF; TSG", "protein_names_uniprotkb": "Ras and EF-hand domain-containing protein; 3.6.5.2; Ras-related protein Rab-45", "protein_names_refseq": "ras and EF-hand domain-containing protein; ras-related protein Rab-45", "tax_id": 9606, "disease": "", "pathway": " (hsa:158158)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "16015647;16174859;17448446;18385040;21890458;24703243;29557506;30315122;30814157;31844290;32157095;33968037;34087483;34171305;35051231;38901651", "class_list": "", "function": "Homozygosity, in combination with methylation, appears to be the mechanism targeting RASEF in uveal melanoma, and allelic imbalance at this locus supports a TSG role for RASEF., [RefSeq, PubMed]; Near-genomewide RNAi screening for regulators of BRAF(V600E) -induced senescence identifies RASEF, a gene epigenetically silenced in melanoma., [RefSeq, PubMed]; Overexpression of RAB45 increased the phosphorylation levels of p38, resulting in the induction of apoptosis and inhibition of proliferation of CML progenitor cells, [RefSeq, PubMed]; Rab GTPase that acts as a dynein adapter protein, thereby activating dynein-mediated transport and dynein-dynactin motility on microtubules (PubMed:30814157). RASEF-mediated dynein motility is Ca(2+)-independent (PubMed:30814157). Also regulates the formation and sorting of zymogen granules and secretion of digestive enzymes by pancreatic acinar cells (By similarity)., [UniProtKB, UniProtKB, PubMed]; This gene is a member of the Rab family of GTPases that are involved in regulation of membrane traffic. The encoded protein contains an N-terminal EF-hand domain, a coiled-coil motif and a C-terminal Rab domain. A potential role as tumor suppressor has been indicated for this gene. [provided by RefSeq, Nov 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A6NC29;Q96N04", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0042802 identical protein binding;GO:0005509 calcium ion binding;GO:0019003 GDP binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0016192 vesicle-mediated transport;GO:0070625 zymogen granule exocytosis", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q8IZ41-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IXX5-1", "uniprot_id": [ { "id": "T183A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IXX5", "type": "external" } ], "mass": 42826.0, "length": 376, "protein_name": "Transmembrane protein 183A", "gene_name": "TMEM183A", "organism": "Human", "refseq_name": "transmembrane protein 183A isoform 1", "refseq_ac": [ { "id": "NP_612400", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_612400", "type": "external" } ], "gene_names_uniprotkb": "TMEM183A; C1orf37", "gene_names_refseq": "C1orf37; TMEM183A", "protein_names_uniprotkb": "Transmembrane protein 183A", "protein_names_refseq": "transmembrane protein 183A isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:92703)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "16644869;17613536;19536175;25576301;26992070;28904123;29437277;30429286;30484775;32157095;32897882;32938616;33298915;33537174;33717175;33912179;33968037;34171305;34509645;34561969;35051231;36010968;36241641", "class_list": "", "function": "B4GALT3, DAP3, RGS16, TMEM183A and UCK2--were significantly overexpressed in dup(1q)-positive ALLs compared with high hyperdiploid ALLs without dup(1q)., [RefSeq, PubMed]; C1orf37-dup encodes a novel transmembrane protein in humans which potentially endows new properties to cell surface interactions, [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": 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": "A8K5W1;Q6NW15;Q96E06", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane;GO:0019005 SCF ubiquitin ligase complex", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q8IXX5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16559-1", "uniprot_id": [ { "id": "TAL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16559", "type": "external" } ], "mass": 12291.0, "length": 108, "protein_name": "T-cell acute lymphocytic leukemia protein 2", "gene_name": "TAL2", "organism": "Human", "refseq_name": "T-cell acute lymphocytic leukemia protein 2", "refseq_ac": [ { "id": "NP_005412", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005412", "type": "external" } ], "gene_names_uniprotkb": "TAL2; BHLHA19", "gene_names_refseq": "TAL-2; TAL2", "protein_names_uniprotkb": "T-cell acute lymphocytic leukemia protein 2; Class A basic helix-loop-helix protein 19; TAL-2; bHLHa19", "protein_names_refseq": "T-cell acute lymphocytic leukemia 2; T-cell acute lymphocytic leukemia protein 2; class A basic helix-loop-helix protein 19", "tax_id": 9606, "disease": "adult T-cell leukemia/lymphoma (Disease Ontology:DOID:0050523); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:6887)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "12567187;1763056;21971700;24086757;8152805", "class_list": "", "function": "Activation of the TAL2 gene in T-ALL., [RefSeq, PubMed]; Low expression of TAL2 and EGF was observed in human epithelial ovarian cancer, [RefSeq, PubMed]; The expression control of Tal2 in hematopoietic cells Publication Status: Online-Only, [RefSeq, PubMed]; This intronless gene encodes a helix-loop-helix protein. Translocations between this gene on chromosome 9 and the T-cell receptor beta-chain locus on chromosome 7 have been associated with activation of the T-cell acute lymphocytic leukemia 2 gene and T-cell acute lymphoblastic leukemia. [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": 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": "A0AVI7", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA 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_cellular_component": "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": 0.6, "record_id": "Q16559-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2P8-1", "uniprot_id": [ { "id": "RCL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2P8", "type": "external" } ], "mass": 40843.0, "length": 373, "protein_name": "RNA 3'-terminal phosphate cyclase-like protein", "gene_name": "RCL1", "organism": "Human", "refseq_name": "RNA 3'-terminal phosphate cyclase-like protein isoform b", "refseq_ac": [ { "id": "NP_001273628", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273628", "type": "external" } ], "gene_names_uniprotkb": "RCL1; HSPC338; RNAC; RPC2; RPCL1; RTC2", "gene_names_refseq": "RCL1; RNAC; RPCL1", "protein_names_uniprotkb": "RNA 3'-terminal phosphate cyclase-like protein", "protein_names_refseq": "RNA 3'-terminal phosphate cyclase-like protein isoform b; RNA 3'-terminal phosphate cyclase-like protein; RNA cyclase homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:10171); (R-HSA-6790901); (R-HSA-6791226)", "pathway_count": 3, "publication_count": 114, "publication_id_list": "10606270;10790377;11081632;11237011;11922599;11935223;11978965;12068309;12150911;12417735;15199136;16037817;16043514;16381836;16738141;16782898;17189298;17353269;17412707;17636026;18065403;18438418;19033376;19106111;19332556;19463982;19564402;19664994;19801658;20038530;20047967;20056613;20531386;20798176;20805244;20819938;21036871;21063389;21097556;22072790;22190735;22195017;22645359;22916032;23391857;23439679;23482395;2388630;24086612;24424021;24550520;25411247;25418920;25525153;25576301;25653167;25851604;25892735;25969445;26085946;26154972;26196125;26237581;26992070;27084949;27474224;28218747;28228285;28514659;28855257;28904123;29242379;29393594;29437277;29557506;29769354;30315122;30410026;30429286;30524438;30779550;30833945;31154438;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32395117;32502341;32897882;32938616;32983136;33298915;33633747;33912179;33936100;33981976;34019948;34093574;34171305;34516797;34561969;35051231;35580925;36010968;36241641;37938771;40914422;9211966;9482744;9512526", "class_list": "", "function": "As part of the small subunit (SSU) processome, it plays a role in 40S-ribosomal-subunit biogenesis in the early pre-rRNA processing steps at sites A0, A1 and A2 that are required for proper maturation of the 18S RNA (By similarity). Activates BMS1 by promoting GDP/GTP exchange (By similarity). Does not have cyclase activity (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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DRI2;Q5VYW9;Q5VZU1;Q9H9D0;Q9NY00;Q9P044", "ec_number_list": [], "go_molecular_function": "GO:0004521 RNA endonuclease activity;GO:0003824 catalytic activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0032040 small-subunit processome", "go_biological_process": "GO:0000479 endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);GO:0042274 ribosomal small subunit biogenesis;GO:0030490 maturation of SSU-rRNA;GO:0006396 RNA processing;GO:0042254 ribosome biogenesis", "synthesized_glycan_count": 0, "hit_score": 11.7, "record_id": "Q9Y2P8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NP72-1", "uniprot_id": [ { "id": "RAB18_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NP72", "type": "external" } ], "mass": 22977.0, "length": 206, "protein_name": "Ras-related protein Rab-18", "gene_name": "RAB18", "organism": "Human", "refseq_name": "ras-related protein Rab-18 isoform 2", "refseq_ac": [ { "id": "NP_001243339", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243339", "type": "external" } ], "gene_names_uniprotkb": "RAB18", "gene_names_refseq": "RAB18LI1; RAB18; WARBM3", "protein_names_uniprotkb": "Ras-related protein Rab-18; 3.6.5.2", "protein_names_refseq": "RAB18 small GTPase; ras-related protein Rab-18 isoform 2; ras-related protein Rab-18", "tax_id": 9606, "disease": "Warburg micro syndrome 3 (Disease Ontology:DOID:0110718)", "pathway": " (hsa:22931); (R-HSA-6798695); (R-HSA-6811436); (R-HSA-8873719); (R-HSA-8876198)", "pathway_count": 5, "publication_count": 279, "publication_id_list": "10359595;10559986;10562278;10648831;10818110;10931946;10990452;11038176;11080672;11141079;11179213;11230166;11237011;11389151;11447212;11483508;11516400;11675392;11689439;11703925;11746448;11784320;11917121;12058051;12221131;12244319;12364329;12401177;12427552;12432908;12447383;12475894;12684051;12925777;12944476;12972505;15096524;15138286;1516130;15247254;15388334;15483056;15528189;15561770;15692570;15878329;15914536;15958533;16147880;16207721;16314391;16373702;16401880;16410077;1648736;16525024;16525121;16571673;16641372;16754960;16880209;16950109;17043139;17114793;17132146;17189207;17208202;17239822;17287728;17411337;17488286;17562788;17574030;17646400;17671165;17678623;17827179;18076383;18094055;18354496;18367545;1845915;18477474;18532927;18559336;18585354;18641641;18664496;18701652;18779367;18804435;1900457;19109890;19345684;19403694;19490898;19603039;19620288;19635840;19656848;19725050;19729655;19745841;19753100;20008558;20154091;20159109;20159556;20166139;20305638;20308558;20404108;20420828;20434987;20592283;20797862;20851765;20937701;21041651;2115402;21173190;21183348;21187289;21216617;21273506;21330364;21421921;21445324;21458671;21473985;21532587;21554507;21586568;21683469;21706022;21718402;21776405;21951725;22013193;22065758;22072793;22130221;22171327;22223895;22365832;22433857;22511774;22562055;22581368;22595670;22622570;22648168;22653444;22694141;22705394;22762500;22908308;22983554;23084991;23091056;23147242;23176487;23176493;23220125;23239882;23247405;23263280;23295650;23333653;23351085;23357852;23378591;23420520;23444368;23478338;23645161;23650620;23678941;23684622;23713133;23783758;23839779;23935497;24023390;24296415;24644286;24694596;24719330;24891604;24917561;24967941;25074980;25233431;25341920;25343031;25418920;25453831;25472813;25576301;25648148;25713415;25925668;26055712;26063829;26154972;26177209;26245486;26434594;26538022;26925400;26936971;26969162;27041585;27044746;27103185;27246931;27329675;27452731;28467828;28904123;29242379;29314611;29393594;29437277;29557506;30573663;30833945;30970241;31020640;31530632;31844290;32157095;32740904;32938616;33392160;33592498;33904378;33936100;33968037;34078123;34171305;34357683;34932366;35051231;35154160;35251023;35580925;36010968;36215666;38139006;38523235;38665916;39413198;39779760;7688123;7911226;7957092;7991565;8144603;8164745;8349690;8375503;8408203;8513495;8522602;8631982;8662963;8692836;8836150;8863739;9020086;9020161;9030515;9050864;9136770;9323142;9590177;9671731;9733780", "class_list": "", "function": "2'3'-cGAMP interactome identifies 2'3'-cGAMP/Rab18/FosB signaling in cell migration control independent of innate immunity. Erratum:[Sci Adv. 2025 Jan 17;11(3):eadv6581. doi: 10.1126/sciadv.adv6581. PMID: 39823348], [RefSeq, PubMed]; Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights. Review article, [RefSeq, PubMed]; Rab18 Drift in Lipid Droplet and Endoplasmic Reticulum Interactions of Adipocytes under Obesogenic Conditions. Publication Status: Online-Only, [RefSeq, PubMed]; Rab18 interacted with V-set and immunoglobulin domain-containing 4 (VSIG4) to involve in the apoptosis of glioma and the sensitivity to temozolomide., [RefSeq, PubMed]; Rab18 maintains homeostasis of subcutaneous adipose tissue to prevent obesity-induced metabolic disorders., [RefSeq, PubMed]; The protein encoded by this gene is a member of a family of Ras-related small GTPases that regulate membrane trafficking in organelles and transport vesicles. Knockdown studies is zebrafish suggest that this protein may have a role in eye and brain development. Mutations in this gene are associated with Warburg micro syndrome type 3. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]., [RefSeq]; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes (PubMed:24891604, PubMed:30970241). Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (PubMed:24891604, PubMed:30970241). RAB18 is required for the localization of ZFYVE1 to lipid droplets and for its function in mediating the formation of endoplasmic reticulum-lipid droplets (ER-LD) contacts (PubMed:30970241). Also required for maintaining endoplasmic reticulum structure (PubMed:24891604). Plays a role in apical endocytosis/recycling (By similarity). Plays a key role in eye and brain development and neurodegeneration (PubMed:21473985)., [UniProtKB, UniProtKB, PubMed, PubMed, 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": 1, "reported_mutagensis": 5, "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": "B3KMC7;B7Z333;D3DRW1;Q53FX8;Q56UN9;Q6FIH1", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.4.24.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.11", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.4.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.2", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "2.4.1.275", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.275", "type": "external" }, { "id": "2.4.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.22", "type": "external" }, { "id": "2.4.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.38", "type": "external" }, { "id": "2.4.1.90", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.90", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "1.2.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.5", "type": "external" }, { "id": "1.2.1.28", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.28", "type": "external" }, { "id": "1.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.7", "type": "external" }, { "id": "1.2.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.48", "type": "external" }, { "id": "2.5.1.60", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.60", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.4.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.41", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "7.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0019003 GDP binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005811 lipid droplet;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0071786 endoplasmic reticulum tubular network organization;GO:0006886 intracellular protein transport;GO:0007420 brain development;GO:0007264 small GTPase-mediated signal transduction;GO:0034389 lipid droplet organization", "synthesized_glycan_count": 0, "hit_score": 28.2, "record_id": "Q9NP72-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H2M9-1", "uniprot_id": [ { "id": "RBGPR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H2M9", "type": "external" } ], "mass": 155985.0, "length": 1393, "protein_name": "Rab3 GTPase-activating protein non-catalytic subunit", "gene_name": "RAB3GAP2", "organism": "Human", "refseq_name": "rab3 GTPase-activating protein non-catalytic subunit", "refseq_ac": [ { "id": "NP_036546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036546", "type": "external" } ], "gene_names_uniprotkb": "RAB3GAP2; KIAA0839", "gene_names_refseq": "MARTS1; RAB3-GAP150; RAB3GAP150; RAB3GAP2; SPG69; WARBM2; p150", "protein_names_uniprotkb": "Rab3 GTPase-activating protein non-catalytic subunit; RGAP-iso; Rab3 GTPase-activating protein 150 kDa subunit; Rab3-GAP p150; Rab3-GAP regulatory subunit; Rab3-GAP150", "protein_names_refseq": "RAB3 GTPase activating protein subunit 2 (non-catalytic); RGAP-iso; rab3 GTPase-activating protein 150 kDa subunit; rab3 GTPase-activating protein non-catalytic subunit; rab3-GAP p150; rab3-GAP regulatory subunit", "tax_id": 9606, "disease": "Warburg micro syndrome (Disease Ontology:DOID:0060237); Warburg micro syndrome 2 (Disease Ontology:DOID:0110717); Martsolf syndrome (Disease Ontology:DOID:0111586)", "pathway": " (hsa:25782); (R-HSA-6811436); (R-HSA-8876198)", "pathway_count": 3, "publication_count": 295, "publication_id_list": "10359595;10559986;10562278;10818110;10990452;11038176;11080672;11179213;11237011;11483508;11516400;11689439;11703925;11746448;11784320;11917121;12058051;12221131;12244319;12364329;12401177;12427552;12432908;12447383;12475894;12684051;12925777;12944476;12972505;15096524;15138286;1516130;15247254;15388334;15483056;15528189;15561770;15692570;15878329;15914536;15958533;16207721;16314391;16373702;16410077;16525024;16525121;16532399;16571673;16641372;16754960;16880209;16950109;17043139;17132146;17189207;17208202;17239822;17287728;17488286;17562788;17574030;17646400;17671165;17678623;17827179;18076383;18088087;18094055;18354496;18367545;1845915;18477474;18559336;18585354;18641641;18664496;18669648;18701652;18779367;18804435;18991276;1900457;19109890;19345684;19403694;19490898;19620288;19635840;19656848;19725050;19729655;19745841;19753100;20008558;20068231;20154091;20159109;20159556;20305638;20308558;20404108;20420828;20434987;20592283;20797862;20851765;20937701;20967465;21041651;2115402;21173190;21183348;21187289;21216617;21273506;21330364;21421921;21445324;21458671;21532587;21554507;21586568;21683469;21706022;21718402;21776405;21951725;22013193;22065758;22072793;22130221;22171327;22337587;22365832;22433857;22511774;22562055;22581368;22595670;22622570;22645359;22648168;22653444;22705394;22762500;22908308;22983554;23084991;23091056;23147242;23176487;23176493;23186163;23220125;23239882;23247405;23263280;23295650;23301498;23333653;23351085;23357852;23378591;23420520;23444368;23478338;23481700;23645161;23678941;23684622;23713133;23783758;23839779;24296415;24366607;24644286;24694596;24715725;24719330;24891604;24917561;24967941;25074980;25233431;25341920;25343031;25418920;25453831;25472813;25576301;25645385;25648148;25713415;25925668;26055712;26063829;26154972;26177209;26245486;26434594;26538022;26925400;26929215;26936971;26992070;27041585;27044746;27103185;27246931;27329675;27846572;27920218;28218747;28228285;28446606;28467828;28832583;28855257;28904123;29242379;29393594;29419336;29437277;29493099;29508533;29557506;29605689;29632046;29769354;30315122;30410026;30429286;30524438;30573663;30779550;31020640;31154438;31217245;31530632;31844290;31998317;32157095;32161166;32248620;32265295;32350084;32357974;32376645;32387766;32488085;32502341;32740904;32897882;32938616;32983136;33141586;33298915;33592498;33633747;33912179;33936100;33968037;34211107;34357683;34509645;34932366;35051231;35154160;35318648;35494241;35561310;35580925;36010968;36215666;36241641;36284347;38665916;39779760;40914422;7688123;7911226;8144603;8408203;8522602;8863739;9020086;9020161;9030515;9050864;9136770;9323142;9590177;9671731;9733780", "class_list": "", "function": "Hypogonadotropic hypogonadism due to variants in RAB3GAP2: expanding the phenotypic and genotypic spectrum of Martsolf syndrome. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights. Review article, [RefSeq, PubMed]; Mutation in RAB3GAP2 gene is associated with Warburg micro syndrome and Martsolf syndrome., [RefSeq, PubMed]; Regulatory subunit of the Rab3 GTPase-activating (Rab3GAP) complex composed of RAB3GAP1 and RAB3GAP2, which accelerates the otherwise slow GTP hydrolysis catalyzed by Rab proteins (PubMed:9733780, PubMed:39779760). The complex has GTPase-activating protein (GAP) activity towards various Rab3 subfamily members (RAB3A, RAB3B, RAB3C and RAB3D), RAB5A and RAB43, and has guanine nucleotide exchange factor (GEF) activity towards RAB18 (PubMed:9733780, PubMed:39779760, PubMed:24891604). The Rab3GAP complex acts as a GEF for RAB18 by promoting GDP release from RAB18 and the conversion of inactive RAB18-GDP to the active form RAB18-GTP (PubMed:39779760, PubMed:24891604). Recruits and stabilizes RAB18 at the cis-Golgi membrane in human fibroblasts where RAB18 is most likely activated (PubMed:26063829). Also involved in RAB18 recruitment at the endoplasmic reticulum (ER) membrane where it maintains proper ER structure (PubMed:24891604). Required for normal eye and brain development (By similarity). May participate in neurodevelopmental processes such as cell proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; The Warburg Micro Syndrome-associated Rab3GAP-Rab18 module promotes autolysosome maturation through the Vps34 Complex I., [RefSeq, PubMed]; The protein encoded by this gene belongs to the RAB3 protein family, members of which are involved in regulated exocytosis of neurotransmitters and hormones. This protein forms the Rab3 GTPase-activating complex with RAB3GAP1, where it constitutes the regulatory subunit, whereas the latter functions as the catalytic subunit. This gene has the highest level of expression in the brain, consistent with it having a key role in neurodevelopment. Mutations in this gene are associated with Martsolf syndrome.[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": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "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": "A6H8V0;O75872;Q9HAB0;Q9UFJ7;Q9UQ15", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0008047 enzyme activator activity;GO:0031267 small GTPase binding;GO:0030234 enzyme regulator activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane;GO:0005776 autophagosome;GO:0042734 presynaptic membrane", "go_biological_process": "GO:0097051 establishment of protein localization to endoplasmic reticulum membrane;GO:0006886 intracellular protein transport;GO:0043087 regulation of GTPase activity;GO:0016236 macroautophagy;GO:1903373 positive regulation of endoplasmic reticulum tubular network organization", "synthesized_glycan_count": 0, "hit_score": 29.8, "record_id": "Q9H2M9-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H5N1-1", "uniprot_id": [ { "id": "RABE2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H5N1", "type": "external" } ], "mass": 63543.0, "length": 569, "protein_name": "Rab GTPase-binding effector protein 2", "gene_name": "RABEP2", "organism": "Human", "refseq_name": "rab GTPase-binding effector protein 2", "refseq_ac": [ { "id": "NP_079092", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079092", "type": "external" } ], "gene_names_uniprotkb": "RABEP2; RABPT5B", "gene_names_refseq": "FRA; RABEP2", "protein_names_uniprotkb": "Rab GTPase-binding effector protein 2; Rabaptin-5beta", "protein_names_refseq": "Rabaptin-5 beta; rab GTPase-binding effector protein 2; rabaptin-5beta", "tax_id": 9606, "disease": "nicotine dependence (Disease Ontology:DOID:0050742); cocaine dependence (Disease Ontology:DOID:9975)", "pathway": " (hsa:79874)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "11237011;17205062;17254320;19651622;23186163;23301498;27224062;28514659;28832583;28904123;29242379;29247183;29393594;29425100;29557506;29786170;30455363;31844290;32157095;33912179;33968037;34357683;35051231;36010968;36167069;36241641;9524116", "class_list": "", "function": "A cross-species approach using an in vivo evaluation platform in mice demonstrates that sequence variation in human RABEP2 modulates ischemic stroke outcomes., [RefSeq, PubMed]; FRA-1 expression, including its intracellular localization, may be considered a useful marker for hyperplastic and neoplastic proliferative breast disorders Publication Status: Online-Only, [RefSeq, PubMed]; Phosphorylation regulates RABEP2 function. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in membrane trafficking and in homotypic early endosome fusion (PubMed:9524116). Participates in arteriogenesis by regulating vascular endothelial growth factor receptor 2/VEGFR2 cell surface expression and endosomal trafficking (PubMed:29425100). By interacting with SDCCAG8, localizes to centrosomes and plays a critical role in ciliogenesis (PubMed:27224062)., [UniProtKB, PubMed, PubMed, PubMed]; Pyk2 regulation is associated with increased expression of Fra-1 and JunD, activator protein-1 transcription factors known to be required for involucrin expression., [RefSeq, PubMed]; Results found that H. pylori upregulates RABEP2 in human gastric epithelium. In addition, the level of RABEP2 expression increases with severity of gastric malignant lesions 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0008083 growth factor activity", "go_cellular_component": "GO:0005769 early endosome;GO:0005813 centrosome;GO:0005829 cytosol;GO:0036064 ciliary basal body", "go_biological_process": "GO:0006897 endocytosis;GO:0015031 protein transport;GO:0030030 cell projection organization;GO:1902017 regulation of cilium assembly", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q9H5N1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NHQ8-1", "uniprot_id": [ { "id": "RASF8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NHQ8", "type": "external" } ], "mass": 48327.0, "length": 419, "protein_name": "Ras association domain-containing protein 8", "gene_name": "RASSF8", "organism": "Human", "refseq_name": "ras association domain-containing protein 8 isoform a", "refseq_ac": [ { "id": "NP_001158218", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158218", "type": "external" } ], "gene_names_uniprotkb": "RASSF8; C12orf2", "gene_names_refseq": "C12orf2; HOJ1; RASSF8", "protein_names_uniprotkb": "Ras association domain-containing protein 8; Carcinoma-associated protein HOJ-1", "protein_names_refseq": "Ras association (RalGDS/AF-6) domain family (N-terminal) member 8; carcinoma-associated protein HOJ-1; ras association domain-containing protein 8 isoform a; ras association domain-containing protein 8", "tax_id": 9606, "disease": "synpolydactyly (Disease Ontology:DOID:0060242); cholangiocarcinoma (Disease Ontology:DOID:4947)", "pathway": " (hsa:11228)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "10951517;11237011;11836357;16462760;18669648;23186163;26992070;27600516;27846572;29393594;29557506;30484775;30833945;31154438;31222486;31844290;31848261;32157095;32161166;32387766;32488085;32938616;33592498;33968037;34171305;35051231;35318648;35580925;35676548;35839610;36010968;36215666;36241641;37601265", "class_list": "", "function": "CircCERS6 Suppresses the Development of Epithelial Ovarian Cancer Through Mediating miR-630/RASSF8., [RefSeq, PubMed]; Expression of RASSF8 protein by transfected lung cancer cells led to inhibition of anchorage-independent growth in soft agar in A549 cells and reduction of clonogenic activity in NCI-H520 cells, [RefSeq, PubMed]; RASSF8-AS1 displays low expression in colorectal cancer and up-regulates RASSF8 to suppress cell invasion and migration., [RefSeq, PubMed]; Tailored modulation of S100A1 and RASSF8 expression by butanediamide augments healing of rotator cuff tears. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the Ras-assocation domain family (RASSF) of tumor suppressor proteins. This gene is essential for maintaining adherens junction function in epithelial cells and has a role in epithelial cell migration. It is a lung tumor suppressor gene candidate. A chromosomal translocation t(12;22)(p11.2;q13.3) leading to the fusion of this gene and the FBLN1 gene is found in a complex type of synpolydactyly. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A8K1Z0;O95647;Q5SCI2;Q76KB6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q8NHQ8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96S21-1", "uniprot_id": [ { "id": "RB40C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96S21", "type": "external" } ], "mass": 31304.0, "length": 281, "protein_name": "Ras-related protein Rab-40C", "gene_name": "RAB40C", "organism": "Human", "refseq_name": "ras-related protein Rab-40C isoform a", "refseq_ac": [ { "id": "NP_001166134", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166134", "type": "external" } ], "gene_names_uniprotkb": "RAB40C; RARL; RASL8C", "gene_names_refseq": "RAB40C; RARL; RASL8C", "protein_names_uniprotkb": "Ras-related protein Rab-40C; 3.6.5.2; Rar-like protein; Ras-like protein family member 8C; SOCS box-containing protein RAR3", "protein_names_refseq": "RAR (RAS like GTPASE) like; RAR like; RAS-like GTPase; RAS-like, family 8, member C; SOCS box-containing protein RAR3; rar-like protein; ras-like protein family member 8C; ras-related protein Rab-40C isoform a; ras-related protein Rab-40C", "tax_id": 9606, "disease": "", "pathway": " (hsa:57799); (R-HSA-8873719)", "pathway_count": 2, "publication_count": 47, "publication_id_list": "11141079;11237011;11389151;11447212;11675392;15601820;16401880;1648736;17114793;17411337;18532927;19603039;22694141;24023390;25341920;26969162;26992070;28349825;28832583;28834231;28904123;29156729;29242379;29485866;29557506;30833945;31154438;31844290;32488085;32656896;32897882;32938616;33968037;34087483;34171305;35512830;36010968;36241641;7957092;7991565;8164745;8349690;8375503;8513495;8631982;8662963;8836150", "class_list": "", "function": "RAB40C gene polymorphisms rs62030917 and rs2269556 are associated with an increased risk of lumbar disc herniation development in the Chinese Han population., [RefSeq, PubMed]; RAB40C small GTPase acts as substrate-recognition component of the ECS(RAB40C) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:15601820, PubMed:35512830). The Rab40 subfamily belongs to the Rab family that are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (PubMed:29156729). As part of the ECS(RAB40C) complex, mediates ANKRD28 ubiquitination and degradation, thereby inhibiting protein phosphatase 6 (PP6) complex activity and focal adhesion assembly during cell migration (PubMed:35512830). Also negatively regulate lipid droplets accumulation in a GTP-dependent manner (PubMed:29156729)., [UniProtKB, PubMed, PubMed, PubMed]; Total of 1799 differentially methylated regions were identified including SLC6A3, Rab40C, ZNF584, and FOXD3 whose significant methylation differences were confirmed in breast cancer patients through quantitative real-time polymerase chain reaction.Methylation of those aforementioned genes in white blood cells of our young patients may highlight their potential as early epimarkers, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A2IDE2;D3DU54;O60795;Q4TT41;Q5PXE8;Q6PIU5", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.5.1.60", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.60", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:1990756 ubiquitin-like ligase-substrate adaptor activity;GO:0003925 G protein activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005768 endosome;GO:0005811 lipid droplet;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0016477 cell migration;GO:0035556 intracellular signal transduction;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination;GO:0051895 negative regulation of focal adhesion assembly", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q96S21-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H9P5-4", "uniprot_id": [ { "id": "UNKL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H9P5", "type": "external" } ], "mass": 73828.0, "length": 680, "protein_name": "Putative E3 ubiquitin-protein ligase UNKL", "gene_name": "UNKL", "organism": "Human", "refseq_name": "putative E3 ubiquitin-protein ligase UNKL isoform 2", "refseq_ac": [ { "id": "NP_001032202", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032202", "type": "external" } ], "gene_names_uniprotkb": "UNKL; C16orf28; ZC3H5L; ZC3HDC5L", "gene_names_refseq": "C16orf28; UNKL; ZC3H5L; ZC3HDC5L", "protein_names_uniprotkb": "Putative E3 ubiquitin-protein ligase UNKL; 2.3.2.-; RING finger protein unkempt-like; Zinc finger CCCH domain-containing protein 5-like", "protein_names_refseq": "RING finger protein unkempt-like; putative E3 ubiquitin-protein ligase UNKL isoform 2; putative E3 ubiquitin-protein ligase UNKL; unkempt family zinc finger-like; unkempt homolog-like; zinc finger CCCH domain-containing protein 5-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:64718); (R-HSA-983168)", "pathway_count": 2, "publication_count": 43, "publication_id_list": "11062501;11350924;12646216;1339381;14734113;15224091;15224092;15571818;16595681;16849449;16954532;18662542;19028597;19352404;19452197;19489725;19851334;19874575;19940261;20148946;2261476;23481700;25576301;26992070;27600516;28218747;28832583;28904123;29242379;29393594;29493099;30379171;31844290;32157095;32897882;32983136;34171305;34509645;35051231;36010968;36215666;9380723;9668046", "class_list": "", "function": "Characterizes the related Drosophila gene and protein., [RefSeq, PubMed]; May participate in a protein complex showing an E3 ligase activity regulated by RAC1. Ubiquitination is directed towards itself and possibly other substrates, such as SMARCD2/BAF60b. Intrinsic E3 ligase activity has not been proven., [UniProtKB, PubMed]; This gene encodes a RING finger protein that may function in Rac signaling. It can bind to Brg/Brm-associated factor 60b and can promote its ubiquitination. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 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": 2, "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": "B0QYN6;B1GXI8;Q96EV1;Q96RZ1;Q9BWL5;Q9H5K0;Q9UJJ8", "ec_number_list": [ { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "2.3.2.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.34", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0016740 transferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q9H9P5-4", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96KV7-1", "uniprot_id": [ { "id": "WDR90_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96KV7", "type": "external" } ], "mass": 187437.0, "length": 1748, "protein_name": "WD repeat-containing protein 90", "gene_name": "WDR90", "organism": "Human", "refseq_name": "WD repeat-containing protein 90 isoform 1", "refseq_ac": [ { "id": "NP_660337", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_660337", "type": "external" } ], "gene_names_uniprotkb": "WDR90; C16orf15; C16orf16; C16orf17; C16orf18; C16orf19; KIAA1924", "gene_names_refseq": "C16orf15; C16orf16; C16orf17; C16orf18; C16orf19; POC16; WDR90", "protein_names_uniprotkb": "WD repeat-containing protein 90", "protein_names_refseq": "WD repeat-containing protein 90 isoform 1; WD repeat-containing protein 90", "tax_id": 9606, "disease": "", "pathway": " (hsa:197335)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "11237011;23481700;24714562;24715725;26154972;27846572;28218747;28781053;28855257;29437277;29508533;29557506;29786170;30315122;30429286;31217245;31276698;31844290;32157095;32161166;32350084;32387766;32502341;32897882;32938616;32946374;33141586;33298915;33691108;33912179;33968037;33981976;34211107;34357683;34509645;35051231;35580925;36010968", "class_list": "", "function": "Microtubule-binding protein that plays a crucial role in ensuring inner core protein localization within the centriole core, as well as in maintaining the microtubule wall integrity and the overall centriole roundness and stability. Required for efficient primary cilium formation., [UniProtKB, UniProtKB, UniProtKB, PubMed]; Study describes WD repeat containing protein 90 (WDR90) as a new inflammasome component. Reconstitution experiments of the human inflammasome in HEK293cells demonstrated that WDR90 was able to physically interact with and to alter the cellular distribution of NLRC4, but not of NLRP3 and AIM2., [RefSeq, PubMed]; This study identified POB15 and POC16 as two proteins of the central core region, the distribution of which correlates with that of tubulin glutamylation; POB15 is an inner barrel protein within this region. Two poc16 mutants exhibit flagellar defects, indicating that POC16 is important for flagellum biogenesis. Human WDR90 is required for ciliogenesis, echoing the findings in Chlamydomonas., [RefSeq, PubMed]; WDR90 is a centriolar microtubule wall protein important for centriole architecture integrity. 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": 24, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q0VA87;Q0VA88;Q6P048;Q6ZMS1;Q6ZTH1;Q8N202;Q8N221;Q8NBB8;Q96PW4;Q96S18", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding", "go_cellular_component": "GO:0005813 centrosome;GO:0005874 microtubule;GO:0005814 centriole;GO:0034451 centriolar satellite;GO:0036064 ciliary basal body", "go_biological_process": "GO:0060271 cilium assembly;GO:0061511 centriole elongation;GO:0030030 cell projection organization", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q96KV7-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96NA2-1", "uniprot_id": [ { "id": "RILP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96NA2", "type": "external" } ], "mass": 44200.0, "length": 401, "protein_name": "Rab-interacting lysosomal protein", "gene_name": "RILP", "organism": "Human", "refseq_name": "rab-interacting lysosomal protein", "refseq_ac": [ { "id": "NP_113618", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_113618", "type": "external" } ], "gene_names_uniprotkb": "RILP; PP10141", "gene_names_refseq": "PP10141; RILP", "protein_names_uniprotkb": "Rab-interacting lysosomal protein", "protein_names_refseq": "rab-interacting lysosomal protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:83547); (R-HSA-2132295)", "pathway_count": 2, "publication_count": 96, "publication_id_list": "10036229;10064083;10072072;10480952;10540230;10593899;10631941;10631952;10639150;10748235;10809954;11179213;11237011;11520070;11529500;11684289;11696325;11790530;11813165;11853874;12078484;12198549;12475955;12742663;12748383;12944476;14668488;14731593;15498874;15749704;15911768;15933719;15996637;16181339;16242130;16618111;16824007;17142755;17283181;18046453;18292509;18669648;1956401;19564404;20068231;21116285;2121367;21441454;2190094;22261744;22431521;2391366;24275569;26154972;27113757;27862975;27893789;28832583;29242379;29557506;32357974;32387766;32938616;33128214;33298915;33968037;34509645;35051231;35580925;35981451;39195203;7481823;7592972;7650016;7667286;8046351;8134367;8145819;8148318;8313912;8397411;8415765;8642258;8687433;8849454;8909537;8939989;8947036;9075930;9202021;9311912;9312039;9497313;9539769;9545226;9606180", "class_list": "", "function": "Methylation of RILP in lung cancer promotes tumor cell proliferation and invasion., [RefSeq, PubMed]; RILP Induces Cholesterol Accumulation in Lysosomes by Inhibiting Endoplasmic Reticulum-Endolysosome Interactions. Publication Status: Online-Only, [RefSeq, PubMed]; RILP inhibits proliferation, migration, and invasion of PC3 prostate cancer cells., [RefSeq, PubMed]; Rab effector playing a role in late endocytic transport to degradative compartments (PubMed:11179213, PubMed:11696325, PubMed:12944476, PubMed:14668488, PubMed:27113757). Involved in the regulation of lysosomal morphology and distribution (PubMed:14668488, PubMed:27113757). Induces recruitment of dynein-dynactin motor complexes to Rab7A-containing late endosome and lysosome compartments (PubMed:11179213, PubMed:11696325). Promotes centripetal migration of phagosomes and the fusion of phagosomes with the late endosomes and lysosomes (PubMed:12944476)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a lysosomal protein that interacts with RAB7, a small GTPase that controls transport to endocytic degradative compartments. Studies using mutant forms of the two proteins suggest that this protein represents a downstream effector for RAB7, and both proteins act together in the regulation of late endocytic traffic. A unique region of this protein has also been shown to be involved in the regulation of lysosomal morphology. [provided by RefSeq, Sep 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 8, "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": "B2RBQ8;Q71RE6;Q9BSL3;Q9BYS3", "ec_number_list": [], "go_molecular_function": "GO:0046983 protein dimerization activity;GO:0031267 small GTPase binding;GO:0051959 dynein light intermediate chain binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005764 lysosome;GO:0005765 lysosomal membrane;GO:0031902 late endosome membrane;GO:0030670 phagocytic vesicle membrane", "go_biological_process": "GO:0015031 protein transport;GO:0042632 cholesterol homeostasis;GO:0008333 endosome to lysosome transport;GO:0045022 early endosome to late endosome transport;GO:0060271 cilium assembly", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "Q96NA2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96NR8-1", "uniprot_id": [ { "id": "RDH12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96NR8", "type": "external" } ], "mass": 35094.0, "length": 316, "protein_name": "Retinol dehydrogenase 12", "gene_name": "RDH12", "organism": "Human", "refseq_name": "retinol dehydrogenase 12", "refseq_ac": [ { "id": "NP_689656", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689656", "type": "external" } ], "gene_names_uniprotkb": "RDH12; SDR7C2", "gene_names_refseq": "LCA13; RDH12; RP53; SDR7C2", "protein_names_uniprotkb": "Retinol dehydrogenase 12; 1.1.1.300; All-trans and 9-cis retinol dehydrogenase; Short chain dehydrogenase/reductase family 7C member 2", "protein_names_refseq": "all-trans and 9-cis retinol dehydrogenase; retinol dehydrogenase 12 (all-trans/9-cis/11-cis); retinol dehydrogenase 12, all-trans and 9-cis; retinol dehydrogenase 12; short chain dehydrogenase/reductase family 7C member 2", "tax_id": 9606, "disease": "Leber congenital amaurosis 13 (Disease Ontology:DOID:0110330); Leber congenital amaurosis (Disease Ontology:DOID:14791); Leber hereditary optic neuropathy (Disease Ontology:DOID:705)", "pathway": " (hsa:145226); (R-HSA-2453902); (R-HSA-9918440)", "pathway_count": 3, "publication_count": 51, "publication_id_list": "10075733;10617778;10753906;11123914;11274389;12036956;12177057;12226107;12407145;15258582;15314061;15322982;15471866;15865448;16269441;17081983;17255476;19049981;19140180;1925597;19309693;19686838;19956407;20192770;21493626;21602930;21774515;22665496;2303470;2542268;26124963;3170584;32157095;33141586;35994252;36690427;37714431;38981477;5315589;6288450;6342691;6512705;6589631;6679757;7929238;8105993;8884265;9490294;9541407;9703434;9920938", "class_list": "", "function": "Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy., [RefSeq, PubMed]; Clinical and Genetic Characterization of RDH12-Retinal Dystrophy in a South American Cohort., [RefSeq, PubMed]; Our studies show that RDH12 is associated with retinal dystrophy and encodes an enzyme with a unique, nonredundant role in the photoreceptor cells. Erratum:[Nat Genet. 2004 Sep;36(9):1024], [RefSeq, PubMed]; Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations., [RefSeq, PubMed]; RDH12 allows cone photoreceptors to regenerate opsin visual pigments from a chromophore precursor to escape competition with rods., [RefSeq, PubMed]; Retinoids dehydrogenase/reductase with a clear preference for NADP. Displays high activity towards 9-cis, 11-cis and all-trans-retinal. Shows very weak activity towards 13-cis-retinol (PubMed:12226107, PubMed:15865448). Also exhibits activity, albeit with lower affinity than for retinaldehydes, towards lipid peroxidation products (C9 aldehydes) such as 4-hydroxynonenal and trans-2-nonenal (PubMed:15865448, PubMed:19686838). May play an important function in photoreceptor cells to detoxify 4-hydroxynonenal and potentially other toxic aldehyde products resulting from lipid peroxidation (PubMed:19686838). Has no dehydrogenase activity towards steroids (PubMed:12226107, PubMed:15865448)., [UniProtKB, PubMed, PubMed, PubMed]; The protein encoded by this gene is an NADPH-dependent retinal reductase whose highest activity is toward 9-cis and all-trans-retinol. The encoded enzyme also plays a role in the metabolism of short-chain aldehydes but does not exhibit steroid dehydrogenase activity. Defects in this gene are a cause of Leber congenital amaurosis type 13 and Retinitis Pigmentosa 53. [provided by RefSeq, Sep 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "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": "B2RDA2;Q8TAW6", "ec_number_list": [ { "id": "1.1.1.300", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.300", "type": "external" }, { "id": "1.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-", "type": "external" }, { "id": "1.1.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.64", "type": "external" }, { "id": "1.1.1.54", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.54", "type": "external" }, { "id": "1.1.1.216", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.216", "type": "external" }, { "id": "1.1.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.2", "type": "external" }, { "id": "1.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.-.-", "type": "external" }, { "id": "1.1.1.19", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.19", "type": "external" }, { "id": "1.1.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.20", "type": "external" }, { "id": "1.1.1.372", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.372", "type": "external" }, { "id": "1.1.1.21", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.21", "type": "external" }, { "id": "1.1.1.357", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.357", "type": "external" }, { "id": "1.1.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.62", "type": "external" }, { "id": "1.1.1.188", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.188", "type": "external" }, { "id": "1.1.1.239", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.239", "type": "external" }, { "id": "1.1.1.210", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.210", "type": "external" }, { "id": "1.1.1.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.53", "type": "external" } ], "go_molecular_function": "GO:0004745 all-trans-retinol dehydrogenase (NAD+) activity;GO:0052650 all-trans-retinol dehydrogenase (NADP+) activity;GO:0102354 11-cis-retinol dehydrogenase (NADP+) activity", "go_cellular_component": "GO:0060342 photoreceptor inner segment membrane;GO:0005789 endoplasmic reticulum membrane;GO:0001917 photoreceptor inner segment", "go_biological_process": "GO:0001523 retinoid metabolic process;GO:0042572 retinol metabolic process;GO:0007601 visual perception;GO:0045494 photoreceptor cell maintenance;GO:0110095 cellular detoxification of aldehyde", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q96NR8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZL6-1", "uniprot_id": [ { "id": "RGL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZL6", "type": "external" } ], "mass": 86701.0, "length": 768, "protein_name": "Ral guanine nucleotide dissociation stimulator-like 1", "gene_name": "RGL1", "organism": "Human", "refseq_name": "ral guanine nucleotide dissociation stimulator-like 1 isoform 2", "refseq_ac": [ { "id": "NP_001284598", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001284598", "type": "external" } ], "gene_names_uniprotkb": "RGL1; KIAA0959; RGL", "gene_names_refseq": "RGL1; RGL", "protein_names_uniprotkb": "Ral guanine nucleotide dissociation stimulator-like 1; RalGDS-like 1", "protein_names_refseq": "ral guanine nucleotide dissociation stimulator-like 1 isoform 2; ralGDS-like 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:23179); (R-HSA-1989781); (R-HSA-5673001)", "pathway_count": 3, "publication_count": 105, "publication_id_list": "10508167;10760592;10777541;10869344;11027663;11090077;11136978;11267664;11313946;11546808;11702783;12032311;12094235;12118000;12121613;12177166;12505311;12582161;14506247;14707138;15067378;15130092;15356145;1545823;15546878;15635043;16380219;16627759;16684964;16959974;16972786;1716764;17998941;18540824;18719978;18775330;18848529;1898771;19088433;19279408;19710929;19920141;19934321;20110263;20478380;21102635;21372320;21779497;21779505;21993244;22569528;22589270;22750304;23103841;23303910;23443682;23575685;24196956;24897931;24937142;25219551;25576301;25781681;26085527;27846572;28228285;28778966;28904123;29393594;29557506;29786170;30315122;30429286;30833945;31135801;31154438;31844290;31848261;32157095;32357974;32983136;33592498;34932366;35051231;35257782;35318648;35580925;36010968;6148751;7685352;7809086;7892212;7935463;7972015;8052307;8394845;8493579;8647822;8665852;8710374;8939933;9012850;9604935;9748239;9927426", "class_list": "", "function": "Probable guanine nucleotide exchange factor., [UniProtKB]; Structures of RGL1 RAS-Association Domain in Complex with KRAS and the Oncogenic G12V Mutant., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5SXQ2;Q5SXQ6;Q9HBY3;Q9HBY4;Q9NZL5;Q9UG43;Q9Y2G6", "ec_number_list": [], "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0007265 Ras protein signal transduction;GO:0007264 small GTPase-mediated signal transduction", "synthesized_glycan_count": 0, "hit_score": 10.6, "record_id": "Q9NZL6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UNT1-1", "uniprot_id": [ { "id": "RBL2B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UNT1", "type": "external" } ], "mass": 26101.0, "length": 228, "protein_name": "Rab-like protein 2B", "gene_name": "RABL2B", "organism": "Human", "refseq_name": "rab-like protein 2B isoform 1", "refseq_ac": [ { "id": "NP_001003789", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003789", "type": "external" } ], "gene_names_uniprotkb": "RABL2B", "gene_names_refseq": "RABL2B", "protein_names_uniprotkb": "Rab-like protein 2B; 3.6.5.2", "protein_names_refseq": "RAB-like protein 2B; rab-like protein 2B isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:11158)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "10444334;11237011;18477386;20138207;23055941;23481700;23646949;25418920;25576301;26992070;28218747;28428259;28625565;29437277;30429286;30578315;31154438;31844290;31848261;32157095;32897882;32938616;33968037;34509645;35051231;35580925;36284347;39894887", "class_list": "", "function": "CEP19 is recruited to the ciliary base by the centriolar CEP350/FOP complex and then specifically captures GTP-bound RABL2B, which is activated via its intrinsic nucleotide exchange., [RefSeq, PubMed]; In human samples no deviations of the euploid genomic state could be detected indicating that 22q13 microdeletions involving RABL2B are rare., [RefSeq, PubMed]; RABL2 controls localization of GPR161 independently of TULP3, which promotes entry of ciliary GPCRs. Publication Status: Online-Only, [RefSeq, PubMed]; Small GTPase required for ciliation. Activated in a guanine nucleotide exchange factor (GEF)-independent manner via its intrinsic GDP for GTP nucleotide exchange ability (PubMed:28625565). Involved in ciliary assembly by binding the intraflagellar transport (IFT) complex B from the large pool pre-docked at the base of the cilium and thus triggers its entry into the cilia (PubMed:28428259, PubMed:28625565)., [UniProtKB, PubMed, PubMed]; The RABL2B protein is a member of the RAB gene family which belongs to the RAS GTPase superfamily. RABL2B is located within a subtelomeric region of 22q13.3. Multiple alternatively spliced transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 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": 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": "Q5TZT8;Q96C33", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0012505 endomembrane system;GO:0005814 centriole;GO:0036064 ciliary basal body", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0060271 cilium assembly;GO:0042073 intraciliary transport", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q9UNT1-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96P65-1", "uniprot_id": [ { "id": "QRFPR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96P65", "type": "external" } ], "mass": 49488.0, "length": 431, "protein_name": "Pyroglutamylated RF-amide peptide receptor", "gene_name": "QRFPR", "organism": "Human", "refseq_name": "pyroglutamylated RF-amide peptide receptor", "refseq_ac": [ { "id": "NP_937822", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_937822", "type": "external" } ], "gene_names_uniprotkb": "QRFPR; GPR103", "gene_names_refseq": "AQ27; GPR103; QRFPR; SP9155", "protein_names_uniprotkb": "Pyroglutamylated RF-amide peptide receptor; AQ27; G protein-coupled receptor 103; Orexigenic neuropeptide QRFP receptor; SP9155", "protein_names_refseq": "G-protein coupled receptor 103; QRFP receptor; orexigenic neuropeptide QRFP receptor; peptide P518 receptor; pyroglutamylated RF-amide peptide receptor", "tax_id": 9606, "disease": "bone structure disease (Disease Ontology:DOID:0080010)", "pathway": " (hsa:84109); (R-HSA-389397); (R-HSA-416476)", "pathway_count": 3, "publication_count": 43, "publication_id_list": "10191087;10364220;10567430;10583376;10727532;10861009;11015615;11024015;11030716;11237011;11574155;11742120;11753430;12120503;12714592;12960173;15951850;16182515;16268778;16339447;16429482;16648250;16754659;16923326;18434541;18515384;18577758;18936096;1905813;2841328;3086311;31844290;33655503;33872671;34018631;35051231;38253038;7937899;8664309;9224703;9305846;9491897;9770463", "class_list": "", "function": "Characterization and tissue distribution of SP9155 (GPR103) ligand, [RefSeq, PubMed]; N-glycosylation of the human neuropeptide QRFP receptor (QRFPR) is essential for ligand binding and receptor activation., [RefSeq, PubMed]; QRFP and GPR103A/B may regulate diverse neuroendocrine and behavioral functions and implicate this neuropeptide system in metabolic syndrome, [RefSeq, PubMed]; Receptor for the orexigenic neuropeptide QRFP. The activity of this receptor is mediated by G proteins that modulate adenylate cyclase activity and intracellular calcium levels., [UniProtKB, PubMed]; The variations in human orphan G protein-coupled receptor QRFPR affect PI3K-AKT-mTOR signaling., [RefSeq, PubMed]; Two naturally occurring mutations of human GPR103 define distinct G protein selection bias., [RefSeq, PubMed]", "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": 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": 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": 22, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004983 neuropeptide Y receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0032870 cellular response to hormone stimulus", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q96P65-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100100000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A1B0GTH9-1", "uniprot_id": [ { "id": "ZN475_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A1B0GTH9", "type": "external" } ], "mass": 12335.0, "length": 108, "protein_name": "Zinc finger protein 475", "gene_name": "ZNF475", "organism": "Human", "refseq_name": "zinc finger protein 475", "refseq_ac": [ { "id": "NP_001182464", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182464", "type": "external" } ], "gene_names_uniprotkb": "ZNF475", "gene_names_refseq": "ZNF475", "protein_names_uniprotkb": "Zinc finger protein 475", "protein_names_refseq": "zinc finger protein 475", "tax_id": 9606, "disease": "", "pathway": " (hsa:100505841)", "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:0008270 zinc ion binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A1B0GTH9-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NXS2-1", "uniprot_id": [ { "id": "QPCTL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NXS2", "type": "external" } ], "mass": 42924.0, "length": 382, "protein_name": "Glutaminyl-peptide cyclotransferase-like protein", "gene_name": "QPCTL", "organism": "Human", "refseq_name": "glutaminyl-peptide cyclotransferase-like protein isoform 2", "refseq_ac": [ { "id": "NP_001156849", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001156849", "type": "external" } ], "gene_names_uniprotkb": "QPCTL", "gene_names_refseq": "QPCTL; gQC", "protein_names_uniprotkb": "Glutaminyl-peptide cyclotransferase-like protein; 2.3.2.5; Golgi-resident glutaminyl-peptide cyclotransferase; gQC; isoQC", "protein_names_refseq": "glutaminyl cyclase-like; glutaminyl-peptide cyclotransferase-like protein isoform 2; glutaminyl-peptide cyclotransferase-like protein; golgi-resident glutaminyl-peptide cyclotransferase; isoQC", "tax_id": 9606, "disease": "", "pathway": " (hsa:54814)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "11237011;18486145;21288892;21953277;24715725;25502872;27920218;28218747;28904123;29437277;29493099;29557506;30315122;30410026;30833751;31611695;31844290;32350084;32938616;33298915;33592498;33912179;34357683;35051231;36459066;37063864", "class_list": "", "function": "Deciphering the role of QPCTL in glioma progression and cancer immunotherapy. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic association studies in Danish population: Quantitative metabolic phenotypes in obesity are associated with SNP in various genes: QPCTL (rs2287019) is associated with body mass index and increased insulinogenic index., [RefSeq, PubMed]; QPCTL is critical for pyroglutamate formation on CD47 at the SIRPalpha binding site shortly after biosynthesis., [RefSeq, PubMed]; Responsible for the biosynthesis of pyroglutamyl peptides., [UniProtKB, PubMed, PubMed]; Senescent cells suppress macrophage-mediated corpse removal via upregulation of the CD47-QPCT/L 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q53HE4;Q96F74", "ec_number_list": [ { "id": "2.3.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.5", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0016603 glutaminyl-peptide cyclotransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0016020 membrane", "go_biological_process": "GO:0017186 peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q9NXS2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NDN9-1", "uniprot_id": [ { "id": "RCBT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NDN9", "type": "external" } ], "mass": 58252.0, "length": 531, "protein_name": "RCC1 and BTB domain-containing protein 1", "gene_name": "RCBTB1", "organism": "Human", "refseq_name": "RCC1 and BTB domain-containing protein 1 isoform a", "refseq_ac": [ { "id": "NP_060661", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060661", "type": "external" } ], "gene_names_uniprotkb": "RCBTB1; CLLD7; E4.5", "gene_names_refseq": "CLLD7; CLLL7; GLP; RCBTB1; RDEOA", "protein_names_uniprotkb": "RCC1 and BTB domain-containing protein 1; CLL deletion region gene 7 protein; Chronic lymphocytic leukemia deletion region gene 7 protein; Regulator of chromosome condensation and BTB domain-containing protein 1", "protein_names_refseq": "CLL deletion region gene 7 protein; GDP/GTP exchange factor (GEF)-like protein; RCC1 and BTB domain-containing protein 1 isoform a; chronic lymphocytic leukemia deletion region gene 7 protein; regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1; regulator of chromosome condensation and BTB domain-containing protein 1", "tax_id": 9606, "disease": "childhood-onset asthma (Disease Ontology:DOID:0080815); allergic disease (Disease Ontology:DOID:1205); RCBTB1-related retinopathy (MONDO:MONDO:0014955)", "pathway": " (hsa:55213)", "pathway_count": 1, "publication_count": 45, "publication_id_list": "11306461;14565662;22544926;23481700;24715725;25576301;25645385;25892735;26154972;27486781;27920218;28228285;28832583;28904123;29242379;29393594;29786170;30429286;30484775;30524438;31844290;32157095;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33104391;33141586;33298915;33624564;33717175;33912179;33968037;33981976;34509645;35051231;35057699;35561310;36010968;36241641;37938771;38679985", "class_list": "", "function": "Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy., [RefSeq, PubMed]; E4.5 gene, which maps at chromosome band 13q14.3, encodes for a 4 kb mRNA expressed in various tissues and has an open reading frame of 531 amino acids. It has a potential role in the pathogenesis of chronic lymphocytic leukemia [E4.5], [RefSeq, PubMed]; Expression of CLLD7 and CHC1L Proteins in Oral Epithelial Dysplasia in a Group of Thai Patients. Publication Status: Online-Only, [RefSeq, PubMed]; May be involved in cell cycle regulation by chromatin remodeling., [UniProtKB, PubMed]; Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy., [RefSeq, PubMed]; This gene encodes a protein with an N-terminal RCC1 domain and a C-terminal BTB (broad complex, tramtrack and bric-a-brac) domain. In rat, over-expression of this gene in vascular smooth muscle cells induced cellular hypertrophy. In rat, the C-terminus of RCBTB1 interacts with the angiotensin II receptor-1A. In humans, this gene maps to a region of chromosome 13q that is frequently deleted in B-cell chronic lymphocytic leukemia and other lymphoid malignancies. [provided by RefSeq, Jul 2008]., [RefSeq]; Variants in RCBTB1 are Associated with Autosomal Recessive Retinitis Pigmentosa but Not Autosomal Dominant FEVR., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8IY29;Q969U9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006325 chromatin organization", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q8NDN9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NP90-1", "uniprot_id": [ { "id": "RAB9B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NP90", "type": "external" } ], "mass": 22719.0, "length": 201, "protein_name": "Ras-related protein Rab-9B", "gene_name": "RAB9B", "organism": "Human", "refseq_name": "ras-related protein Rab-9B", "refseq_ac": [ { "id": "NP_057454", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057454", "type": "external" } ], "gene_names_uniprotkb": "RAB9B; RAB9L", "gene_names_refseq": "RAB9B; RAB9L; Rab-9L", "protein_names_uniprotkb": "Ras-related protein Rab-9B; 3.6.5.2; Rab-9-like protein; Rab-9L", "protein_names_refseq": "Ras-associated protein 9B; Ras-associated protein RAB9-like; ras-related protein Rab-9B", "tax_id": 9606, "disease": "", "pathway": " (hsa:51209); (R-HSA-6798695); (R-HSA-6811440); (R-HSA-8873719); (R-HSA-8876198); (R-HSA-9706019)", "pathway_count": 6, "publication_count": 278, "publication_id_list": "10209123;10445031;10559959;10637310;10818110;10865125;10990452;11038176;11043518;11141079;11179213;11303027;11346801;11359012;11389151;11447212;11516400;11675392;11689439;11703925;11746448;11784320;11827983;11839770;11917121;12058051;12070132;12221131;12244319;12364329;12377769;12427552;12475894;12620188;12620189;12684051;12944476;12972505;14580338;14718928;15029241;15037235;15077113;15077114;15096524;15128430;15138286;1516130;15247254;15269279;15388334;15483056;15528189;15561770;15654769;15692570;15758030;15870108;15878329;15914536;15958533;16042553;16129887;16207721;16373702;16401880;16410077;1648736;16525024;16525121;16571673;16571679;16641372;16754960;16880209;16885419;16912714;16936697;16950109;17043139;17114793;17132146;17189207;17208202;17239822;17287728;17411337;17451557;17488286;17488291;17562788;17574030;17646400;17671165;17678623;17684057;17698061;18076383;18094055;18195106;18243103;18256213;18354496;18367545;1845915;18477474;18532927;18559336;18585354;18664496;18701652;18779367;18804435;18946081;1900457;19019082;19109890;19164740;19345684;19403694;19490898;19603039;19620288;19656848;19725050;19729655;19745841;20008558;20048159;20154091;20159109;20159556;20305638;20308558;20404108;20434987;20592283;20685960;20797862;20851765;20937701;21041651;2115402;21183348;21187289;21216617;21255211;21273506;21330364;21421921;21436057;21445324;21458671;21532587;21554507;21586568;21683469;21689688;21706022;21718402;21776405;21807881;21951725;22013193;22065758;22072793;22171327;22245496;22335553;22354037;22365832;22433857;22511774;22581368;22595670;22622570;22637480;22648168;22653444;22694141;22705394;22709582;22717455;22762500;22908308;22983554;23084991;23091056;23147242;23176487;23176493;23220125;23239882;23247405;23263280;23295650;23333653;23351085;23357852;23378591;23420520;23437303;23444368;23478338;23645161;23650620;23678941;23684622;23713133;23839779;24023390;24145166;24296415;24644286;24694596;24719330;24794632;24891604;24917561;24967941;25074980;25341920;25343031;25472813;25648148;25713415;25925668;26055712;26177209;26215701;26245486;26434594;26538022;26925400;26936971;26969162;27041585;27044746;27103185;27246931;27329675;33968037;34087483;34793709;34932366;36010968;7688123;7909812;7911226;7957092;7991565;8144603;8164745;8221884;8349690;8375503;8408203;8440258;8513495;8522602;8620540;8631982;8636227;8662963;8670882;8692836;8836150;8863739;9020086;9020161;9030515;9050864;9136770;9177194;9230071;9323142;9590177;9733780", "class_list": "", "function": "The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (By similarity). RAB9B is involved in the transport of proteins between the endosomes and the trans Golgi network (By similarity). May use NDE1/NDEL1 as an effector to interact with the dynein motor complex in order to control retrograde trafficking of RAB9-associated late endosomes to the TGN (PubMed:34793709)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; This gene encodes a member of a subfamily of RAS small guanosine triphosphate (GTP)-binding proteins that regulate membrane trafficking. The encoded protein may be involved in endosome-to-Golgi transport. [provided by RefSeq, Jan 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R8M0;Q52LX2", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.4.24.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.11", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.4.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.2", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "2.4.1.275", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.275", "type": "external" }, { "id": "2.4.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.22", "type": "external" }, { "id": "2.4.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.38", "type": "external" }, { "id": "2.4.1.90", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.90", "type": "external" }, { "id": "1.2.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.5", "type": "external" }, { "id": "1.2.1.28", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.28", "type": "external" }, { "id": "1.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.7", "type": "external" }, { "id": "1.2.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.48", "type": "external" }, { "id": "2.5.1.60", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.60", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "7.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0005525 GTP binding;GO:0042802 identical protein binding;GO:0019003 GDP binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005764 lysosome;GO:0030667 secretory granule membrane;GO:0030670 phagocytic vesicle membrane", "go_biological_process": "GO:0015031 protein transport;GO:0006898 receptor-mediated endocytosis;GO:0042147 retrograde transport, endosome to Golgi;GO:0032482 Rab protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 27.9, "record_id": "Q9NP90-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NYN1-1", "uniprot_id": [ { "id": "RASLC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NYN1", "type": "external" } ], "mass": 29662.0, "length": 266, "protein_name": "Ras-like protein family member 12", "gene_name": "RASL12", "organism": "Human", "refseq_name": "ras-like protein family member 12 isoform 2", "refseq_ac": [ { "id": "NP_001294859", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294859", "type": "external" } ], "gene_names_uniprotkb": "RASL12; RIS", "gene_names_refseq": "RASL12; RIS", "protein_names_uniprotkb": "Ras-like protein family member 12; 3.6.5.2; Ras-like protein Ris", "protein_names_refseq": "Ras family member Ris; ras-like protein Ris; ras-like protein family member 12 isoform 2; ras-like protein family member 12", "tax_id": 9606, "disease": "", "pathway": " (hsa:51285)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "12107412;27543614;29557506;30429286;34211107;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": 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": "B2RC29;B4DJW2;B4DU82", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007264 small GTPase-mediated signal transduction", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q9NYN1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P1G2-1", "uniprot_id": [ { "id": "RBAS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P1G2", "type": "external" } ], "mass": 11378.0, "length": 102, "protein_name": "Putative uncharacterized protein encoded by RBM12B-AS1", "gene_name": "RBM12B-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "RBM12B-AS1; C8orf39; PRO1905", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by RBM12B-AS1; RBM12B antisense RNA 1; RBM12B 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": "Q9P1G2-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0A6YYD4-1", "uniprot_id": [ { "id": "TVB13_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0A6YYD4", "type": "external" } ], "mass": 13967.0, "length": 124, "protein_name": "T cell receptor beta variable 13", "gene_name": "TRBV13", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRBV13", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor beta variable 13", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "15040585;20452950;23524462;24600447;25493333", "class_list": "", "function": "V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0042101 T cell receptor complex", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A0A0A6YYD4-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0J9YX06-1", "uniprot_id": [ { "id": "TJB12_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0J9YX06", "type": "external" } ], "mass": 1635.0, "length": 15, "protein_name": "T cell receptor beta joining 1-2", "gene_name": "TRBJ1-2", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRBJ1-2", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor beta joining 1-2", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "15040585;20452950;23524462;24600447;25493333", "class_list": "", "function": "J region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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:0042101 T cell receptor complex", "go_biological_process": "GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A0A0J9YX06-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0K0K1D8-1", "uniprot_id": [ { "id": "TVB61_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0K0K1D8", "type": "external" } ], "mass": 12632.0, "length": 114, "protein_name": "T cell receptor beta variable 6-1", "gene_name": "TRBV6-1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRBV6-1", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor beta variable 6-1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 7, "publication_id_list": "15040585;20452950;23524462;24600447;25493333;27862975;35580925", "class_list": "", "function": "V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A0A0B4J1U5;A0A586", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0042101 T cell receptor complex", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "A0A0K0K1D8-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A1B0GTR3-1", "uniprot_id": [ { "id": "CX05A_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A1B0GTR3", "type": "external" } ], "mass": 12028.0, "length": 108, "protein_name": "Uncharacterized protein CXorf51A", "gene_name": "CXorf51A", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "CXorf51A; CXorf51", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein CXorf51A", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:100129239); (hsa:100133053)", "pathway_count": 2, "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": "A0A1B0GTR3-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99603-1", "uniprot_id": [ { "id": "TRGV9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99603", "type": "external" } ], "mass": 13414.0, "length": 122, "protein_name": "T cell receptor gamma variable 9", "gene_name": "TRGV9", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRGV9; TCRGV9", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor gamma variable 9", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "23348415;24387714;24600447;25674089;28920588;35580925", "class_list": "", "function": "V region of the variable domain of T cell receptor (TR) gamma chain that participates in the antigen recognition (PubMed:24600447). Gamma-delta TRs recognize a variety of self and foreign non-peptide antigens frequently expressed at the epithelial boundaries between the host and external environment, including endogenous lipids presented by MH-like protein CD1D and phosphoantigens presented by butyrophilin-like molecule BTN3A1. Upon antigen recognition induces rapid, innate-like immune responses involved in pathogen clearance and tissue repair (PubMed:23348415, PubMed:28920588). Binding of gamma-delta TR complex to antigen triggers phosphorylation of immunoreceptor tyrosine-based activation motifs (ITAMs) in the CD3 chains by the LCK and FYN kinases, allowing the recruitment, phosphorylation, and activation of ZAP70 that facilitates phosphorylation of the scaffolding proteins LCP2 and LAT. This lead to the formation of a supramolecular signalosome that recruits the phospholipase PLCG1, resulting in calcium mobilization and ERK activation, ultimately leading to T cell expansion and differentiation into effector cells (PubMed:25674089). Gamma-delta TRs are produced through somatic rearrangement of a limited repertoire of variable (V), diversity (D), and joining (J) genes. The potential diversity of gamma-delta TRs is conferred by the unique ability to rearrange (D) genes in tandem and to utilize all three reading frames. The combinatorial diversity is considerably increased by the sequence exonuclease trimming and random nucleotide (N) region additions which occur during the V-(D)-J rearrangements (PubMed:24387714)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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:0042605 peptide antigen binding;GO:0042287 MHC protein binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0042101 T cell receptor complex;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0045087 innate immune response;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q99603-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0J9YW22-1", "uniprot_id": [ { "id": "A0A0J9YW22_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0J9YW22", "type": "external" } ], "mass": 1224.0, "length": 9, "protein_name": "Immunoglobulin heavy diversity 3-9", "gene_name": "IGHD3-9", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGHD3-9", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin heavy diversity 3-9", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A0J9YW22-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A5B7-1", "uniprot_id": [ { "id": "TVB29_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A5B7", "type": "external" } ], "mass": 12190.0, "length": 111, "protein_name": "T cell receptor beta variable 29-1", "gene_name": "TRBV29-1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRBV29-1; TCRBV4S1A1T", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor beta variable 29-1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "15040585;20452950;23524462;24600447;25493333;8650574", "class_list": "", "function": "V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. 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Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. 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Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0042101 T cell receptor complex", "go_biological_process": "GO:0009617 response to bacterium;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A0A087WSZ9-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0U1RQE8-1", "uniprot_id": [ { "id": "GLYLB_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0U1RQE8", "type": "external" } ], "mass": 34553.0, "length": 302, "protein_name": "Putative glycine N-acyltransferase-like protein 1B", "gene_name": "GLYATL1B", "organism": "Human", "refseq_name": "putative glycine N-acyltransferase-like protein 1B", "refseq_ac": [ { "id": "NP_001342495", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001342495", "type": "external" } ], "gene_names_uniprotkb": "GLYATL1B", "gene_names_refseq": "GLYATL1B; GLYATL1P3", "protein_names_uniprotkb": "Putative glycine N-acyltransferase-like protein 1B; 2.3.1.68", "protein_names_refseq": "glycine-N-acyltransferase like 1 pseudogene 3; putative glycine N-acyltransferase-like protein 1B", "tax_id": 9606, "disease": "", "pathway": " (hsa:100287520)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "Putative acyltransferase which transfers an acyl group to the N-terminus of glutamine. Can use phenylacetyl-CoA as an acyl donor., [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": [ { "id": "2.3.1.68", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.68", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" } ], "go_molecular_function": "GO:0047946 glutamine N-acyltransferase activity;GO:0047961 glycine N-acyltransferase activity", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "GO:0006541 glutamine metabolic process", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A0A0U1RQE8-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A1W2PPF3-1", "uniprot_id": [ { "id": "DUXB_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A1W2PPF3", "type": "external" } ], "mass": 40370.0, "length": 345, "protein_name": "Double homeobox protein B", "gene_name": "DUXB", "organism": "Human", "refseq_name": "double homeobox protein B isoform 1", "refseq_ac": [ { "id": "NP_001338236", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001338236", "type": "external" } ], "gene_names_uniprotkb": "DUXB", "gene_names_refseq": "DUXB", "protein_names_uniprotkb": "Double homeobox protein B", "protein_names_refseq": "double homeobox protein B isoform 1; double homeobox protein B", "tax_id": 9606, "disease": "", "pathway": " (hsa:100033411); (R-HSA-9819196)", "pathway_count": 2, "publication_count": 14, "publication_id_list": "22209328;23934149;24278031;26360614;26951377;27062923;27412763;28459456;28459457;31630170;34267371;35051231;35402882;36074823", "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: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_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "A0A1W2PPF3-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A286YF60-1", "uniprot_id": [ { "id": "SCGR3_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A286YF60", "type": "external" } ], "mass": 9511.0, "length": 100, "protein_name": "Small cysteine and glycine repeat-containing protein 3", "gene_name": "SCYGR3", "organism": "Human", "refseq_name": "small cysteine and glycine repeat-containing protein 3", "refseq_ac": [ { "id": "NP_001382333", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001382333", "type": "external" } ], "gene_names_uniprotkb": "SCYGR3; KRTAP28-3", "gene_names_refseq": "KRTAP28-3; SCYGR3", "protein_names_uniprotkb": "Small cysteine and glycine repeat-containing protein 3; Keratin-associated protein 28-3", "protein_names_refseq": "keratin associated protein 28-3; small cysteine and glycine repeat-containing protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:112441429)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "18721477", "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:0005882 intermediate filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A286YF60-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A1W2PQL4-1", "uniprot_id": [ { "id": "ZN722_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A1W2PQL4", "type": "external" } ], "mass": 44601.0, "length": 384, "protein_name": "Zinc finger protein 722", "gene_name": "ZNF722", "organism": "Human", "refseq_name": "zinc finger protein 722", "refseq_ac": [ { "id": "NP_001382941", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001382941", "type": "external" } ], "gene_names_uniprotkb": "ZNF722; ZNF722P", "gene_names_refseq": "ZNF722P; ZNF722", "protein_names_uniprotkb": "Zinc finger protein 722", "protein_names_refseq": "zinc finger protein 479 pseudogene; zinc finger protein 722, pseudogene; zinc finger protein 722", "tax_id": 9606, "disease": "", "pathway": " (hsa:100419780)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "31844290", "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": "", "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:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A1W2PQL4-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7RTU9-1", "uniprot_id": [ { "id": "STRC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7RTU9", "type": "external" } ], "mass": 192967.0, "length": 1775, "protein_name": "Stereocilin", "gene_name": "STRC", "organism": "Human", "refseq_name": "stereocilin precursor", "refseq_ac": [ { "id": "NP_714544", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_714544", "type": "external" } ], "gene_names_uniprotkb": "STRC", "gene_names_refseq": "DFNB16; STRC", "protein_names_uniprotkb": "Stereocilin", "protein_names_refseq": "stereocilin precursor", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness 16 (Disease Ontology:DOID:0110471); sensorineural hearing loss (Disease Ontology:DOID:10003); deafness-infertility syndrome (MONDO:MONDO:0012621)", "pathway": " (hsa:161497); (R-HSA-9662360); (R-HSA-9662361)", "pathway_count": 3, "publication_count": 21, "publication_id_list": "10025409;10821263;11163272;11237011;11687802;17098888;19664994;29557506;32502341;32938616;33912179;33936100;34171305;34932366;35022556;35051231;36284347;36526540;36764706;37890241;37996878", "class_list": "", "function": "Behavioral characterization of the cochlear amplifier lesion due to loss of function of stereocilin (STRC) in human subjects., [RefSeq, PubMed]; Dispersed DNA variants underlie hearing loss in South Florida's minority population. Publication Status: Online-Only, [RefSeq, PubMed]; Essential to the formation of horizontal top connectors between outer hair cell stereocilia., [UniProtKB]; Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients. Publication Status: Online-Only, [RefSeq, PubMed]; Recurrent Benign Paroxysmal Positional Vertigo in DFNB16 Patients with Biallelic STRC Gene Deletions., [RefSeq, PubMed]; Recurrent benign paroxysmal positional vertigo in two DFNB16 siblings: A CARE case report., [RefSeq, PubMed]; This gene encodes a protein that is associated with the hair bundle of the sensory hair cells in the inner ear. The hair bundle is composed of stiff microvilli called stereocilia and is involved with mechanoreception of sound waves. This gene is part of a tandem duplication on chromosome 15; the second copy is a pseudogene. Mutations in this gene cause autosomal recessive non-syndromic deafness. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 19, "predicted_n_glycosites": 14, "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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 19, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 19, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0009986 cell surface;GO:0060091 kinocilium;GO:0032426 stereocilium tip", "go_biological_process": "GO:0007160 cell-matrix adhesion;GO:0007605 sensory perception of sound;GO:0060088 auditory receptor cell stereocilium organization", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q7RTU9-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000011001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N801-1", "uniprot_id": [ { "id": "STPG4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N801", "type": "external" } ], "mass": 27807.0, "length": 248, "protein_name": "Protein STPG4", "gene_name": "STPG4", "organism": "Human", "refseq_name": "protein STPG4 isoform 1", "refseq_ac": [ { "id": "NP_001157033", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157033", "type": "external" } ], "gene_names_uniprotkb": "STPG4; C2orf61", "gene_names_refseq": "C2orf61; GSE; STPG4", "protein_names_uniprotkb": "Protein STPG4; GSE; Gonad-specific expression gene protein; Sperm-tail PG-rich repeat-containing protein 4", "protein_names_refseq": "gonad-specific expression gene protein; protein STPG4 isoform 1; protein STPG4; sperm-tail PG-rich repeat-containing protein 4; uncharacterized protein C2orf61", "tax_id": 9606, "disease": "", "pathway": " (hsa:285051); (R-HSA-9821002)", "pathway_count": 2, "publication_count": 12, "publication_id_list": "11237011;17320160;17320161;17320163;17363312;17713478;17851529;18003914;22420752;29786170;35051231;35314832", "class_list": "", "function": "Maternal factor that plays a role in epigenetic chromatin reprogramming during early development of the zygote. Involved in the regulation of gametic DNA demethylation by inducing the conversion of the modified genomic base 5-methylcytosine (5mC) into 5-hydroxymethylcytosine (5hmC)., [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": "H7C2Z2", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0001939 female pronucleus;GO:0001940 male pronucleus;GO:0042585 germinal vesicle", "go_biological_process": "GO:0044727 epigenetic programing of male pronucleus", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q8N801-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96RU8-1", "uniprot_id": [ { "id": "TRIB1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96RU8", "type": "external" } ], "mass": 41009.0, "length": 372, "protein_name": "Tribbles homolog 1", "gene_name": "TRIB1", "organism": "Human", "refseq_name": "tribbles homolog 1 isoform 2", "refseq_ac": [ { "id": "NP_001269914", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269914", "type": "external" } ], "gene_names_uniprotkb": "TRIB1; C8FW; GIG2; TRB1", "gene_names_refseq": "C8FW; GIG-2; GIG2; SKIP1; TRB-1; TRB1; TRIB1", "protein_names_uniprotkb": "Tribbles homolog 1; G protein-coupled receptor-induced gene 2 protein; GIG-2; SKIP1; TRB-1", "protein_names_refseq": "G-protein-coupled receptor induced protein; G-protein-coupled receptor-induced gene 2 protein; G-protein-coupled receptor-induced protein 2; phosphoprotein regulated by mitogenic pathways; tribbles homolog 1 isoform 2; tribbles homolog 1; tribbles-like protein 1", "tax_id": 9606, "disease": "glucose metabolism disease (Disease Ontology:DOID:4194)", "pathway": " (hsa:10221); (R-HSA-9031628)", "pathway_count": 2, "publication_count": 190, "publication_id_list": "10203854;10381005;10611221;10611312;10656257;10734128;10826704;10872467;10882540;10984481;11018254;11027551;11237011;11280768;11331872;11343657;11567222;11755530;11840323;11956230;12399542;12511643;1377233;14522948;14597720;14969744;15102911;15161978;15299019;15449318;15542842;15620361;1570299;15733869;15836632;15880109;16034366;16136673;16187211;16221685;16260776;16287845;16339507;16407550;16484497;16574654;16595688;16732277;17088210;17088211;17088212;17344846;17632064;17898216;18056528;18088355;18160048;1833716;18456662;18524893;1861162;19061646;19116276;19193899;19194657;19926875;2017159;2040600;20410507;20506119;2052361;2072895;21057636;2109185;21326363;21486943;21621608;22053691;22065583;22294728;22302795;2237820;22645359;23481700;24029068;24060757;24714562;24715725;25248477;25569790;25576301;25645385;25748042;25802875;26018600;26024233;26154972;26455797;2676516;26992070;27041596;27128622;27220739;27600516;27846572;27862975;27920218;28076410;28275114;28286024;28832583;29242379;29393594;29508533;29557506;29559111;29632046;29769354;29786170;29789417;30315122;30379171;30410026;30429286;30779550;31154438;31217245;3127059;31530632;31844290;31848261;31998317;32157095;32161166;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33936100;33968037;34171305;34211107;35051231;35561310;35580925;36284347;3672127;37083954;37291259;37414350;38896446;39062650;7551568;7592934;7595538;7608156;7624335;7777577;7823924;7857651;7871435;7876254;7923378;8090221;8090222;8248782;8413279;8483478;8576248;8583621;8668170;8756618;8846918;8918830;9032251;9084409;9342215;9343422;9390517;9418898;9622090;9722618;9770464;9774344;9808461;9822744;9858769", "class_list": "", "function": "Adapter protein involved in protein degradation by interacting with COP1 ubiquitin ligase (PubMed:27041596). The COP1-binding motif is masked by autoinhibitory interactions with the protein kinase domain (PubMed:26455797). Serves to alter COP1 substrate specificity by directing the activity of COP1 toward CEBPA (PubMed:27041596). Binds selectively the recognition sequence of CEBPA (PubMed:26455797). Regulates myeloid cell differentiation by altering the expression of CEBPA in a COP1-dependent manner (By similarity). Controls macrophage, eosinophil and neutrophil differentiation via the COP1-binding domain (By similarity). Interacts with MAPK kinases and regulates activation of MAP kinases, but has no kinase activity (PubMed:15299019, PubMed:26455797)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; PON1 rs662, rs854560 and TRIB1 rs17321515, rs2954029 Gene Polymorphisms Are Associated with Lipid Parameters in Patients with Unstable Angina. Publication Status: Online-Only, [RefSeq, PubMed]; Polymorphisms of TRIB1 genes for coronary artery disease and stroke risk: A systematic review and meta-analysis., [RefSeq, PubMed]; Regulation of TRIB1 abundance in hepatocyte models in response to proteasome inhibition. Publication Status: Online-Only, [RefSeq, PubMed]; Tribbles controls both the extent and the specificity of MAPK kinase activation of MAPK, [RefSeq, PubMed]; Tribbles1 is host protective during in vivo mycobacterial infection. Publication Status: Online-Only, [RefSeq, PubMed]; Upregulation of Tribbles decreases body weight and increases sleep duration., [RefSeq, PubMed]; Used chemical shift perturbation experiments to show the possible SKIP binding interface on PPIL1, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 8, "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": "B4DMM6;C5HU08;O15180;Q9H2Y8", "ec_number_list": [], "go_molecular_function": "GO:0055106 ubiquitin-protein transferase regulator activity;GO:0019901 protein kinase binding;GO:0031434 mitogen-activated protein kinase kinase binding;GO:0031625 ubiquitin protein ligase binding;GO:0004860 protein kinase inhibitor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0045645 positive regulation of eosinophil differentiation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0032496 response to lipopolysaccharide;GO:0014912 negative regulation of smooth muscle cell migration;GO:0048662 negative regulation of smooth muscle cell proliferation", "synthesized_glycan_count": 0, "hit_score": 19.3, "record_id": "Q96RU8-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94804-1", "uniprot_id": [ { "id": "STK10_HUMAN", "url": "https://www.uniprot.org/uniprot/O94804", "type": "external" } ], "mass": 112135.0, "length": 968, "protein_name": "Serine/threonine-protein kinase 10", "gene_name": "STK10", "organism": "Human", "refseq_name": "serine/threonine-protein kinase 10", "refseq_ac": [ { "id": "NP_005981", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005981", "type": "external" } ], "gene_names_uniprotkb": "STK10; LOK", "gene_names_refseq": "LOK; PRO2729; STK10", "protein_names_uniprotkb": "Serine/threonine-protein kinase 10; 2.7.11.1; Lymphocyte-oriented kinase", "protein_names_refseq": "lymphocyte-oriented kinase; serine/threonine-protein kinase 10", "tax_id": 9606, "disease": "testicular germ cell cancer (Disease Ontology:DOID:5557)", "pathway": " (hsa:6793); (R-HSA-6798695); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106)", "pathway_count": 5, "publication_count": 272, "publication_id_list": "40667337;10037681;10199912;10232922;10490598;10523665;10523675;10526156;10579713;10619026;10699171;10873388;11058585;11085924;11207612;11237011;11373293;11396949;11431473;11432776;11606631;11672528;11680691;11689693;11704860;11804589;11804590;11884391;11903060;11912491;12071859;12093360;12195014;12221077;12221096;12473120;12531887;12639966;12650940;12857875;12877655;14512443;15023524;15064355;15107133;15302923;15342493;15485661;15601624;15611138;15850391;15866170;15944396;16112081;16116428;16175573;16184169;16217026;16467373;16519628;16630611;16776779;16777452;16777849;16862148;16896804;16914516;16917499;16964243;17077126;17192257;17198702;17322306;17344846;17562871;17702745;17765681;17804252;17932950;17942708;17976533;18088087;18158243;18218625;18239682;18452278;18491316;18669648;18691976;18767875;18802007;18829452;18991276;19255442;19367720;19369195;19413330;19494238;19605563;19635168;19651622;19664994;19664995;19673492;19713215;20030946;20058876;20068231;20101212;20166139;20400958;20591975;20628200;20660154;21148482;21351730;21373644;21454492;21565175;21576392;21606217;21699497;21757538;21865595;21936715;22028470;22096251;22298643;22305756;22673745;22790947;22911862;22992742;23186163;23200924;23255595;23434736;23481700;23572525;23650620;23842845;23870313;24086303;24128008;24259668;24275569;24335996;24352656;24715725;24933155;25211221;25418920;25425145;25469497;25576301;25645385;25673874;25704760;26154972;26371245;26529257;26768311;26887924;26992070;27145964;27177495;27216196;27481945;27600516;27846572;27862975;27920218;27986909;28063628;28112683;28196833;28218747;28228285;28430576;28584191;28832583;28860189;28904123;29146911;29242379;29393594;29437277;29493099;29557506;29632046;29632711;29786170;30410026;30429286;30451992;30524438;31105010;31217245;31844290;31871319;32157095;32203420;32265295;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33537174;33592498;33633747;33717175;33912179;33936100;33968037;33981976;34087483;34357683;34405274;34509645;34561969;34932366;35051231;35154160;35501867;35561310;35580925;36010968;36241641;36284347;37938771;40307207;40914422;7479768;7673236;7721814;7753201;8021274;8537347;8543060;8571126;8617235;8643598;8649427;8662891;8692836;8756646;8769096;8807639;8810315;8816443;8939998;9013646;9111050;9113980;9305890;9418861;9490638;9497316;9535835;9548756;9659915;9670022;9792683;9822605;9829970", "class_list": "", "function": "Binding of phosphatidylinositol 4,5-biphosphate to ezrin induces a conformational change permitting the insertion of the LOK C-terminal domain to wedge apart the membrane and F-actin-binding domains of ezrin. The N-terminal LOK kinase domain can then access a site 40 residues distal from the consensus sequence that collectively direct phosphorylation of the appropriate threonine residue. Publication Status: Online-Only, [RefSeq, PubMed]; Opposing roles of serine/threonine kinases MEKK1 and LOK in regulating the CD28 responsive element in T-cells, [RefSeq, PubMed]; STK10 functions as a tumor suppressor gene, and dysfunction of STK10 activity either through polymorphism or somatic mutations may confer anti-apoptotic effects contributing to carcinogenesis., [RefSeq, PubMed]; Serine/threonine-protein kinase involved in regulation of lymphocyte migration. Phosphorylates MSN, and possibly PLK1. Involved in regulation of lymphocyte migration by mediating phosphorylation of ERM proteins such as MSN. Acts as a negative regulator of MAP3K1/MEKK1. May also act as a cell cycle regulator by acting as a polo kinase kinase: mediates phosphorylation of PLK1 in vitro; however such data require additional evidences in vivo., [UniProtKB, PubMed, PubMed, PubMed]; Stk10 is a novel polo-like kinase kinase that cooperates with hSlk to regulate Plk1 function in human cells, [RefSeq, PubMed]; Systematic analysis of prognostic significance, functional enrichment and immune implication of STK10 in acute myeloid leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; The gene signature of OPA1, CTSA, NDUFA1, STK10 and PRDX1 was able to identify patients post-implant with a sensitivity of 91% and a specificity of 86% in discrimination between post-implant group and healthy controls., [RefSeq, PubMed]; This gene encodes a member of the Ste20 family of serine/threonine protein kinases, and is similar to several known polo-like kinase kinases. The protein can associate with and phosphorylate polo-like kinase 1, and overexpression of a kinase-dead version of the protein interferes with normal cell cycle progression. The kinase can also negatively regulate interleukin 2 expression in T-cells via the mitogen activated protein kinase kinase 1 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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 22, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 19, "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": "A6ND35;B2R8F5;B3KMY1;Q6NSK0;Q9UIW4", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "3.4.24.81", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.81", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "6.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.3", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "6.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.7", "type": "external" }, { "id": "6.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.24", "type": "external" }, { "id": "6.2.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.15", "type": "external" }, { "id": "2.3.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.51", "type": "external" }, { "id": "1.14.19.17", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.19.17", "type": "external" }, { "id": "5.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.-", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.3.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.20", "type": "external" }, { "id": "2.3.1.76", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.76", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "3.4.21.73", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.73", "type": "external" }, { "id": "1.6.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.3.-", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.-", "type": "external" }, { "id": "7.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.-", "type": "external" }, { "id": "1.14.14.18", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.18", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "1.2.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.5", "type": "external" }, { "id": "1.2.1.28", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.28", "type": "external" }, { "id": "1.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.7", "type": "external" }, { "id": "1.2.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.48", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "3.2.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.6", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "1.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-", "type": "external" }, { "id": "3.1.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.4", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.3.1.78", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.78", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0035579 specific granule membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0035556 intracellular signal transduction;GO:0046777 protein autophosphorylation;GO:0071593 lymphocyte aggregation;GO:2000401 regulation of lymphocyte migration", "synthesized_glycan_count": 0, "hit_score": 27.7, "record_id": "O94804-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZMY3-1", "uniprot_id": [ { "id": "SPOC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZMY3", "type": "external" } ], "mass": 130027.0, "length": 1216, "protein_name": "SPOC domain-containing protein 1", "gene_name": "SPOCD1", "organism": "Human", "refseq_name": "SPOC domain-containing protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001268916", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268916", "type": "external" } ], "gene_names_uniprotkb": "SPOCD1", "gene_names_refseq": "PPP1R146; SPOCD1", "protein_names_uniprotkb": "SPOC domain-containing protein 1", "protein_names_refseq": "SPOC domain-containing protein 1 isoform 2; SPOC domain-containing protein 1; protein phosphatase 1, regulatory subunit 146", "tax_id": 9606, "disease": "", "pathway": " (hsa:90853); (R-HSA-9845323)", "pathway_count": 2, "publication_count": 16, "publication_id_list": "11237011;16959974;23481700;28005267;28246015;29257309;29557506;31844290;32387766;33726799;34357683;35051231;35504398;35580925;36010968;38359823", "class_list": "", "function": "Haplotype phasing of a bipolar disorder pedigree revealed rare multiple mutations of SPOCD1 gene in the 1p36-35 susceptibility locus., [RefSeq, PubMed]; LncRNA SPOCD1-AS from ovarian cancer extracellular vesicles remodels mesothelial cells to promote peritoneal metastasis via interacting with G3BP1. Publication Status: Online-Only, [RefSeq, PubMed]; Protein adapter that acts as an essential executor of PIWIL4-piRNA pathway directed transposon DNA methylation and silencing in the male embryonic germ cells. Recruited to young transposons, which are specifically marked with histone H3 trimethylated at both 'Lys-4' and 'Lys-9' (H3K4me3K9me3), via its association with SPIN1 chromatin reader, and associates with the de novo DNA methylation machinery and repressive chromatin remodeling complexes. Following this, PIWIL4 engages with nascent transposable element transcript to direct piRNA-directed DNA methylation. Not required for piRNA biosynthesis., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed]; SPOCD1 expression is significantly upregulated in human masticatory mucosa during wound healing, [RefSeq, PubMed]; SPOCD1 genetic variants have role in gastric carcinogenesis., [RefSeq, PubMed]; SPOCD1 promoted cell proliferation and inhibited cell apoptosis through regulation of VEGFA in osteosarcoma., [RefSeq, PubMed]; This gene encodes a protein that belongs to the TFIIS family of transcription factors. 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q24JU3;Q6PI90;Q8N869;Q8N8U0;Q8NBC6;Q96LN6", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005694 chromosome", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0141006 transposable element silencing by piRNA-mediated heterochromatin formation;GO:0141196 transposable element silencing by piRNA-mediated DNA methylation", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q6ZMY3-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q76I76-1", "uniprot_id": [ { "id": "SSH2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q76I76", "type": "external" } ], "mass": 158216.0, "length": 1423, "protein_name": "Protein phosphatase Slingshot homolog 2", "gene_name": "SSH2", "organism": "Human", "refseq_name": "protein phosphatase Slingshot homolog 2 isoform 1", "refseq_ac": [ { "id": "NP_001269058", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269058", "type": "external" } ], "gene_names_uniprotkb": "SSH2; KIAA1725; SSH2L", "gene_names_refseq": "SSH-2L; SSH-2; SSH2", "protein_names_uniprotkb": "Protein phosphatase Slingshot homolog 2; 3.1.3.16; 3.1.3.48; SSH-2L; SSH-like protein 2; hSSH-2L", "protein_names_refseq": "SSH-like protein 2; protein phosphatase Slingshot homolog 2 isoform 1; protein phosphatase Slingshot homolog 2", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:85464)", "pathway_count": 1, "publication_count": 81, "publication_id_list": "11237011;11832213;14527359;14531860;15345747;17081983;17427953;17848544;18669648;19413330;19651622;19664994;19690332;20068231;20477815;23186163;23481700;24714562;24715725;25568344;25576301;25892735;26154972;26728094;26992070;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632711;29769354;30154244;30315122;30379171;30410026;30484775;30524438;30779550;30833945;31154438;31217245;31844290;31848261;31937595;31998317;32157095;32161166;32350084;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33717175;33912179;33968037;33981976;34087483;34171305;34211107;34357683;34509645;34932366;35051231;35561310;35580925;36241641;36284347;40307207", "class_list": "", "function": "Expression of phosphatase-dead versions of SSH proteins, SSH1, SSH2 & SSH3 results in phosphorylation/inactivation of cofilin, changes in cytoskeleton organization, loss of cell polarity, and assembly of aberrant arrays of laminin-332 in keratinocytes., [RefSeq, PubMed]; Novel signaling pathway consisting of chemoattractant GPCR/Galphai protein, PLC, PKCbeta and PKDs that regulates SSH2/cofilin activity, F-actin polymerization and directional assembly of actin cytoskeleton in neutrophil chemotaxis was identified., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Erratum:[APMIS. 2021 May;129(5):280. doi: 10.1111/apm.13126. PMID: 33864290], [RefSeq, PubMed]; Protein phosphatase which regulates actin filament dynamics. Dephosphorylates and activates the actin binding/depolymerizing factor cofilin, which subsequently binds to actin filaments and stimulates their disassembly. Inhibitory phosphorylation of cofilin is mediated by LIMK1, which may also be dephosphorylated and inactivated by this protein (PubMed:11832213). Required for spermatogenesis (By similarity). Involved in acrosome biogenesis, probably by regulating cofilin-mediated actin cytoskeleton remodeling during proacrosomal vesicle fusion and/or Golgi to perinuclear vesicle trafficking (By similarity)., [UniProtKB, UniProtKB, PubMed]; The N-terminal region of human Slingshot2 auto-inhibits its phosphatase activity in a noncompetitive manner Erratum:[J Biol Chem. 2019 Feb 22;294(8):2947. doi: 10.1074/jbc.AAC119.007803. PMID: 30796175], [RefSeq, PubMed]; This gene encodes a protein tyrosine phosphatase that plays a key role in the regulation of actin filaments. The encoded protein dephosphorylates and activates cofilin, which promotes actin filament depolymerization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 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": 14, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 33, "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": "Q8TDB5;Q8WYL1;Q8WYL2;Q96F40;Q96H36;Q9C0D8", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.21", "type": "external" }, { "id": "3.1.3.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.18", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.5", "type": "external" }, { "id": "3.1.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "3.1.3.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.52", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.1.3.74", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.74", "type": "external" } ], "go_molecular_function": "GO:0003779 actin binding;GO:0004722 protein serine/threonine phosphatase activity;GO:0004721 phosphoprotein phosphatase activity;GO:0004725 protein tyrosine phosphatase activity;GO:0016791 phosphatase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005856 cytoskeleton;GO:0005925 focal adhesion;GO:0001669 acrosomal vesicle", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0030036 actin cytoskeleton organization;GO:0006470 protein dephosphorylation;GO:0030837 negative regulation of actin filament polymerization", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "Q76I76-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75494-1", "uniprot_id": [ { "id": "SRS10_HUMAN", "url": "https://www.uniprot.org/uniprot/O75494", "type": "external" } ], "mass": 31301.0, "length": 262, "protein_name": "Serine/arginine-rich splicing factor 10", "gene_name": "SRSF10", "organism": "Human", "refseq_name": "serine/arginine-rich splicing factor 10 isoform 3", "refseq_ac": [ { "id": "NP_001177934", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177934", "type": "external" } ], "gene_names_uniprotkb": "SRSF10; FUSIP1; FUSIP2; SFRS13A; TASR", "gene_names_refseq": "FUSIP1; FUSIP2; NSSR; PPP1R149; SFRS13A; SFRS13; SRSF10; SRp38; SRrp40; TASR1; TASR2; TASR", "protein_names_uniprotkb": "Serine/arginine-rich splicing factor 10; 40 kDa SR-repressor protein; FUS-interacting serine-arginine-rich protein 1; SRrp40; Splicing factor SRp38; Splicing factor, arginine/serine-rich 13A; TASR; TLS-associated SR protein; TLS-associated protein with SR repeats; TLS-associated protein with Ser-Arg repeats; TLS-associated serine-arginine protein", "protein_names_refseq": "40 kDa SR-repressor protein; FUS interacting protein (serine-arginine rich) 1; FUS-interacting protein (serine-arginine rich) 2; SR splicing factor 10; TLS-associated SR protein; TLS-associated protein TASR; TLS-associated protein with SR repeats; TLS-associated protein with Ser-Arg repeats; TLS-associated serine-arginine protein 1; TLS-associated serine-arginine protein 2; neural-salient SR protein; protein phosphatase 1, regulatory subunit 149; serine-arginine repressor protein (40 kDa); serine/arginine-rich splicing factor 10 isoform 3; serine/arginine-rich splicing factor 10; splicing factor SRp38; splicing factor, arginine/serine-rich 13A", "tax_id": 9606, "disease": "macular degeneration (Disease Ontology:DOID:4448)", "pathway": " (hsa:10772); (R-HSA-72163); (R-HSA-72203); (R-HSA-9770562)", "pathway_count": 4, "publication_count": 212, "publication_id_list": "10.1101/2023.09.13.557529;10669729;10779324;10882114;11014198;11060040;11101529;11233976;11237011;11684676;11891055;11991638;12176931;12411573;12414731;12419250;12477934;14625303;14713954;14749727;14765198;15037765;15565158;16314458;16809785;17081983;17095540;17128255;17287340;17322306;17332742;17606899;18212344;18288197;18322460;18452278;18593880;18669648;18691976;18767875;19103666;19165350;19217410;19369195;19413330;19415658;19536130;19651622;19664994;19664995;20058876;20068231;20166139;20423332;20695905;20980672;21295486;21406692;21536652;2176635;21872626;21993680;22110043;22365833;22645359;22813749;22959432;22961380;23186163;23222130;23236153;23301498;23345524;23481700;23874216;24076191;24149845;24196718;24275569;24304693;24316715;24407421;24448447;24714562;24715725;24737827;24914973;24981863;25301780;25301781;25418920;25505266;25555158;25576301;2558966;25880248;26154972;26375851;26385511;26420826;26728094;26811146;26876937;26929215;26969736;26992070;27377154;27459055;27683217;27846572;27851963;27920218;27928057;28062851;28063628;28076346;28096519;28502770;28781166;28832583;28834231;28904123;28911096;29186539;29242379;29274231;29301961;29360106;29361316;29393594;29493099;29508533;29557506;29632046;29632711;2963332;29786170;29789417;30139799;30257008;30315122;30315277;30379171;30429286;30620550;30705154;30728453;30765414;30833945;30975767;31154438;31217245;31409651;31844290;31848261;31937595;31998317;32157095;32179686;32265295;32329775;32350084;32357974;32387766;32494006;32502341;32816001;32897882;32938616;32983136;33141586;33180834;33214551;33243851;33298915;33446560;33633747;33912179;33936100;33981976;34019948;34185709;34211107;34301950;34822310;35051231;35154160;35177536;35251023;35385551;35580925;36010968;36284347;36645633;3757028;37938771;38160788;40596516;8352591;8566756;8608946;9016565;9242493;9409616;9512519;9524131;9539711;9659921;9671485;9701291;9731529;9774382", "class_list": "", "function": "Found to be dephosphorylated specifically in mitotic cells; show that dephosphorylated SRp38 is required for the observed splicing repression, [RefSeq, PubMed]; Identification of SRSF10 as a promising prognostic biomarker with functional significance among SRSFs for glioma., [RefSeq, PubMed]; LncR-GAS5 upregulates the splicing factor SRSF10 to impair endothelial autophagy, leading to atherogenesis., [RefSeq, PubMed]; Splicing factor that in its dephosphorylated form acts as a general repressor of pre-mRNA splicing (PubMed:11684676, PubMed:12419250, PubMed:14765198). Seems to interfere with the U1 snRNP 5'-splice recognition of SNRNP70 (PubMed:14765198). Required for splicing repression in M-phase cells and after heat shock (PubMed:14765198). Also acts as a splicing factor that specifically promotes exon skipping during alternative splicing (PubMed:26876937). Interaction with YTHDC1, a RNA-binding protein that recognizes and binds N6-methyladenosine (m6A)-containing RNAs, prevents SRSF10 from binding to its mRNA-binding sites close to m6A-containing regions, leading to inhibit exon skipping during alternative splicing (PubMed:26876937). May be involved in regulation of alternative splicing in neurons, with isoform 1 acting as a positive and isoform 3 as a negative regulator (PubMed:12419250)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene product is a member of the serine-arginine (SR) family of proteins, which are involved in constitutive and regulated RNA splicing. Members of this family are characterized by N-terminal RNP1 and RNP2 motifs, which are required for binding to RNA, and multiple C-terminal SR/RS repeats, which are important in mediating association with other cellular proteins. This protein interacts with the oncoprotein TLS, and abrogates the influence of TLS on adenovirus E1A pre-mRNA splicing. This gene has pseudogenes on chromosomes 4, 9, 14, 18, and 20. 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": 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": 26, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "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": "A6NFM6;A6NI42;A6NIU7;B4DJP9;O60572;Q5JRH9;Q5JRI0;Q5JRI2;Q5JRI3;Q5JRI4;Q96G09;Q96P17", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0051082 unfolded protein binding;GO:0050733 RS domain binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016607 nuclear speck", "go_biological_process": "GO:0000375 RNA splicing, via transesterification reactions;GO:0000244 spliceosomal tri-snRNP complex assembly;GO:0006355 regulation of DNA-templated transcription;GO:0048025 negative regulation of mRNA splicing, via spliceosome;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 21.8, "record_id": "O75494-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P48643-1", "uniprot_id": [ { "id": "TCPE_HUMAN", "url": "https://www.uniprot.org/uniprot/P48643", "type": "external" } ], "mass": 59671.0, "length": 541, "protein_name": "T-complex protein 1 subunit epsilon", "gene_name": "CCT5", "organism": "Human", "refseq_name": "T-complex protein 1 subunit epsilon isoform d", "refseq_ac": [ { "id": "NP_001293084", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001293084", "type": "external" } ], "gene_names_uniprotkb": "CCT5; CCTE; KIAA0098", "gene_names_refseq": "CCT-epsilon; CCT5; CCTE; HEL-S-69; HSNSP; PNAS-102; TCP-1-epsilon", "protein_names_uniprotkb": "T-complex protein 1 subunit epsilon; 3.6.1.-; CCT-epsilon; Chaperonin containing T-complex polypeptide 1 subunit 5; TCP-1-epsilon", "protein_names_refseq": "T-complex protein 1 subunit epsilon isoform d; T-complex protein 1 subunit epsilon; chaperonin containing T-complex polypeptide 1 subunit 5; chaperonin containing TCP1, subunit 5 (epsilon); epididymis secretory protein Li 69", "tax_id": 9606, "disease": "intrinsic cardiomyopathy (Disease Ontology:DOID:0060036); autosomal recessive sensory neuropathy with spastic paraplegia (Disease Ontology:DOID:0061188); Bardet-Biedl syndrome 10 (Disease Ontology:DOID:0110132); sensory peripheral neuropathy (Disease Ontology:DOID:2491)", "pathway": " (hsa:22948); (R-HSA-389957); (R-HSA-389960); (R-HSA-390450); (R-HSA-390471); (R-HSA-5620922); (R-HSA-6814122)", "pathway_count": 7, "publication_count": 167, "publication_id_list": "11237011;11252952;11466336;12502735;14532270;14654843;15258860;15314642;15889144;16399879;16548883;16702223;16717095;17574030;18775504;19011634;19081074;19376773;19421068;19575670;19651622;20068231;20080638;20112406;20233871;20603001;21098288;21406692;21427764;21872626;21993680;21995946;22072986;22139371;22223895;22389062;22500027;22898188;22967762;23186163;23351793;23481700;23612981;23637185;23747015;24296415;24366607;24714562;24715725;24756126;25124038;25342745;25418920;25443296;25446516;25467444;25576301;25645385;25659125;25675501;25802875;25810538;25880248;26154972;26728094;26758079;26768311;26811146;26853435;26929215;26992070;27090790;27600516;27846572;27862975;27920218;28218747;28228285;28467828;28514659;28649982;28832583;28834231;28855257;28904123;29242379;29314611;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29779948;29786170;30192525;30315122;30397120;30410026;30484775;30524438;31020640;31154438;31217245;31611695;31844290;31848261;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33144677;33214551;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34211107;34357683;34405274;34509645;34561969;34725712;34932366;35051231;35083852;35138101;35251023;35318648;35449234;35561310;35580925;36010968;36215666;36241641;36284347;36493755;36768350;37193829;37217939;37938771;38665916;39286844;39480921;40914422;9153422;9819444", "class_list": "", "function": "A missense mutation within the CCT5 gene is associated with autosomal recessive mutilating sensory neuropathy with spastic paraplegia., [RefSeq, PubMed]; Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of actin, tubulin and other proteins upon ATP hydrolysis (PubMed:25467444, PubMed:36493755, PubMed:35449234, PubMed:37193829). The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance (PubMed:25467444). As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; H147R CCT5 was not as efficient in chaperoning these substrates as wild type CCT5., [RefSeq, PubMed]; Increased CCT5 expression is a potential unfavourable factor promoting the growth of nasopharyngeal carcinoma., [RefSeq, PubMed]; Structural and Dynamic Disturbances Revealed by Molecular Dynamics Simulations Predict the Impact on Function of CCT5 Chaperonin Mutations Associated with Rare Severe Distal Neuropathies. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Mutations in this gene cause hereditary sensory and autonomic neuropathy with spastic paraplegia (HSNSP). Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 5 and 13. [provided by RefSeq, Apr 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "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": "A8JZY8;A8K2X8;B4DYD8", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "1.2.1.12", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.12", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.98", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "3.2.1.45", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.45", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "3.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.-", "type": "external" }, { "id": "3.2.1.46", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.46", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.1.91", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.91", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0031681 G-protein beta-subunit binding;GO:0005524 ATP binding;GO:0051082 unfolded protein binding;GO:0016887 ATP hydrolysis activity;GO:0048487 beta-tubulin binding", "go_cellular_component": "GO:0005813 centrosome;GO:0005829 cytosol;GO:0005874 microtubule;GO:0070062 extracellular exosome;GO:0044297 cell body", "go_biological_process": "GO:1904871 positive regulation of protein localization to Cajal body;GO:0009615 response to virus;GO:0032212 positive regulation of telomere maintenance via telomerase;GO:0050821 protein stabilization;GO:0006457 protein folding", "synthesized_glycan_count": 0, "hit_score": 17.0, "record_id": "P48643-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96JX3-1", "uniprot_id": [ { "id": "SRAC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96JX3", "type": "external" } ], "mass": 74147.0, "length": 654, "protein_name": "Protein SERAC1", "gene_name": "SERAC1", "organism": "Human", "refseq_name": "protein SERAC1", "refseq_ac": [ { "id": "NP_116250", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_116250", "type": "external" } ], "gene_names_uniprotkb": "SERAC1", "gene_names_refseq": "SERAC1", "protein_names_uniprotkb": "Protein SERAC1; Serine active site-containing protein 1", "protein_names_refseq": "protein SERAC1; serine active site-containing protein 1", "tax_id": 9606, "disease": "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (Disease Ontology:DOID:0110001)", "pathway": " (hsa:84947)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "10.1101/2023.09.13.557529;11237011;22683713;23481700;23707711;26811146;26992070;28778788;28904123;29205472;30315122;30909120;31217245;31844290;32157095;32357974;32488085;32938616;33298915;33981976;34171305;34751152;35235340;35943861", "class_list": "", "function": "Facilitates the transport of serine from the cytosol to the mitochondria by interacting with and stabilizing Sideroflexin-1 (SFXN1), a mitochondrial serine transporter, playing a fundamental role in the one-carbon cycle responsible for the synthesis of nucleotides needed for mitochondrial DNA replication (PubMed:35235340). Plays an important role in the phosphatidylglycerol (PG) remodeling that is essential for both mitochondrial function and intracellular cholesterol trafficking (PubMed:22683713). Specifically involved in the exchange of the sn-1 acyl chain from PG 16:0/18:1(9Z) (also known as 1-hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phospho-(1'-sn-glycerol)) to PG 18:0/18:1(9Z) (also known as 1-octadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phospho-(1'-sn-glycerol)), a step needed in the bis(monoacylglycerol)phosphate biosynthetic pathway (PubMed:22683713). May have acyltransferase activity although the mechanism for PG remodeling has not been determined (PubMed:22683713)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; First description of the MEGDEHL syndrome in the Tunisian population via whole-exome sequencing: Novel nonsense mutation in SERAC1 gene., [RefSeq, PubMed]; Our study indicates that the cochlear CHI is a phenotypic feature of the RRM2B and SERAC1 related defects., [RefSeq, PubMed]; Several different SERAC1 variants were identified from individuals with Deafness-Dystonia syndrome., [RefSeq, PubMed]; Severe neonatal MEGDHEL syndrome with a homozygous truncating mutation in SERAC1., [RefSeq, PubMed]; The protein encoded by this gene is a phosphatidylglycerol remodeling protein found at the interface of mitochondria and endoplasmic reticula, where it mediates phospholipid exchange. The encoded protein plays a major role in mitochondrial function and intracellular cholesterol trafficking. Defects in this gene are a cause of 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL). Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Aug 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 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": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q49AT1;Q5VTX3;Q6PKF3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005783 endoplasmic reticulum;GO:0031012 extracellular matrix;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0036148 phosphatidylglycerol acyl-chain remodeling;GO:0032367 intracellular cholesterol transport;GO:0008654 phospholipid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q96JX3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86WV5-1", "uniprot_id": [ { "id": "TEN1L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86WV5", "type": "external" } ], "mass": 13856.0, "length": 123, "protein_name": "CST complex subunit TEN1", "gene_name": "TEN1", "organism": "Human", "refseq_name": "CST complex subunit TEN1", "refseq_ac": [ { "id": "NP_001106795", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001106795", "type": "external" } ], "gene_names_uniprotkb": "TEN1; C17orf106", "gene_names_refseq": "C17orf106; TEN1", "protein_names_uniprotkb": "CST complex subunit TEN1; Protein telomeric pathways with STN1 homolog; Telomere length regulation protein TEN1 homolog", "protein_names_refseq": "CST complex subunit TEN1; TEN1 telomerase capping complex subunit homolog; TEN1, CST complex subunit; protein telomeric pathways with STN1 homolog; telomere length regulation protein TEN1 homolog; telomeric pathways in association with Stn1, number 1", "tax_id": 9606, "disease": "dyskeratosis congenita (Disease Ontology:DOID:2729)", "pathway": " (hsa:100134934); (R-HSA-174411); (R-HSA-174430)", "pathway_count": 3, "publication_count": 30, "publication_id_list": "10329413;11237011;12766176;12930902;15066120;16314528;1974050;19854130;20639858;22763445;22863775;22871736;23826127;23851344;24025336;24038470;24115439;24715725;25483097;28334750;29774655;30026550;33912179;35134616;35830881;35831508;38418884;6693436;8954124;9822671", "class_list": "", "function": "C17ORF106, or TEN1, appears to function in a telomere-associated complex with STN1 (OBFC1; MIM 613128) and CTC1 (C17ORF68; MIM 613129) (Miyake et al., 2009 [PubMed 19854130]).[supplied by OMIM, Nov 2009]., [RefSeq]; CST-polymerase alpha-primase solves a second telomere end-replication problem., [RefSeq, PubMed]; Component of the CST complex proposed to act as a specialized replication factor promoting DNA replication under conditions of replication stress or natural replication barriers such as the telomere duplex. The CST complex binds single-stranded DNA with high affinity in a sequence-independent manner, while isolated subunits bind DNA with low affinity by themselves. Initially the CST complex has been proposed to protect telomeres from DNA degradation (PubMed:19854130). However, the CST complex has been shown to be involved in several aspects of telomere replication. The CST complex inhibits telomerase and is involved in telomere length homeostasis; it is proposed to bind to newly telomerase-synthesized 3' overhangs and to terminate telomerase action implicating the association with the ACD:POT1 complex thus interfering with its telomerase stimulation activity. The CST complex is also proposed to be involved in fill-in synthesis of the telomeric C-strand probably implicating recruitment and activation of DNA polymerase alpha (PubMed:22763445). The CST complex facilitates recovery from many forms of exogenous DNA damage; seems to be involved in the re-initiation of DNA replication at repaired forks and/or dormant origins (PubMed:25483097)., [UniProtKB, PubMed, PubMed, PubMed]; Ctc1-Stn1-Ten1 is a replication protein A (RPA)-like complex that is not directly involved in conventional DNA replication at forks but plays a role in DNA metabolism frequently required by telomeres., [RefSeq, PubMed]; Data indicate that hTen1 is critical for the telomeric function of hCST, both in telomere protection and downregulation of telomerase function Publication Status: Online-Only, [RefSeq, PubMed]; Pan-cancer analysis reveals that CTC1-STN1-TEN1 (CST) complex may have a key position in oncology., [RefSeq, PubMed]; Reconstitution of a telomeric replicon organized by CST., [RefSeq, PubMed]; Structures of the human CST-Polalpha-primase complex bound to telomere templates., [RefSeq, PubMed]; TEN1 likely functions in conjunction with CTC1 and STN1 at the telomere and elsewhere in the genome., [RefSeq, PubMed]; The human CST (CTC1, STN1 and TEN1) complex, previously implicated in telomere protection and DNA metabolism, inhibits telomerase activity through primer sequestration and physical interaction with the protection of telomeres 1 (POT1)-TPP1 telomerase processivity factor, [RefSeq, PubMed]; The mammalian CST (CTC1-STN1-TEN1) complex is directly involved at several stages of telomere end formation and CST seems to play critical roles in coordinating telomerase elongation and fill-in synthesis to complete telomere replication., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "I3L0C7", "ec_number_list": [], "go_molecular_function": "GO:0042162 telomeric DNA binding;GO:0003697 single-stranded DNA binding;GO:0010521 telomerase inhibitor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000781 chromosome, telomeric region;GO:1990879 CST complex", "go_biological_process": "GO:0016233 telomere capping;GO:0032211 negative regulation of telomere maintenance via telomerase", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q86WV5-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2MJR0-1", "uniprot_id": [ { "id": "SPRE3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2MJR0", "type": "external" } ], "mass": 42670.0, "length": 410, "protein_name": "Sprouty-related, EVH1 domain-containing protein 3", "gene_name": "SPRED3", "organism": "Human", "refseq_name": "sprouty-related, EVH1 domain-containing protein 3 isoform 1", "refseq_ac": [ { "id": "NP_001035987", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035987", "type": "external" } ], "gene_names_uniprotkb": "SPRED3; EVE-3", "gene_names_refseq": "Eve-3; SPRED3; spred-3", "protein_names_uniprotkb": "Sprouty-related, EVH1 domain-containing protein 3; Spred-3", "protein_names_refseq": "sprouty-related, EVH1 domain-containing protein 3 isoform 1; sprouty-related, EVH1 domain-containing protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:399473); (R-HSA-5658442); (R-HSA-6802953)", "pathway_count": 3, "publication_count": 39, "publication_id_list": "11237011;11493923;12600938;12646235;12787671;1568246;15683364;1570011;1570015;16478641;17094949;18772396;18772890;18948947;19467855;19573811;20655465;2121370;22108604;22751498;22802525;23171796;23443682;23661552;24576830;24705354;24814062;26214590;29493099;31844290;33298915;35051231;38402263;39227612;8490657;8563751;9219684;9302992;9668168", "class_list": "", "function": "Bioinformatics analysis for the identification of Sprouty-related EVH1 domain-containing protein 3 expression and its clinical significance in thyroid carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Eve-3 may act as an inhibitor of proliferation pathways in the mature liver and be involved in modulating the unique regenerative capacity of this organ, [RefSeq, PubMed]; SPRED3 regulates the NF-kappaB signaling pathway in thyroid cancer and promotes the proliferation. Publication Status: Online-Only, [RefSeq, PubMed]; The finding of Spred-3 revealed the presence of a novel family of regulators for the Ras/MAP kinase pathway, each member of which may have different specificities for extracellular signals. [Spred-3], [RefSeq, PubMed]; This gene encodes a protein with a C-terminal Sprouty-like cysteine-rich domain (SRY) and an N-terminal Ena/Vasodilator-stimulated phosphoprotein (VASP) homology-1 (EVH-1) domain. The encoded protein is a member of a family of proteins that negatively regulates mitogen-activated protein (MAP) kinase signaling, particularly during organogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]., [RefSeq]; Tyrosine kinase substrate that inhibits growth-factor-mediated activation of MAP kinase (By similarity). Inhibits fibroblast growth factor (FGF)-induced retinal lens fiber differentiation, probably by inhibiting FGF-mediated phosphorylation of ERK1/2 (By similarity). Inhibits TGFB-induced epithelial-to-mesenchymal transition in lens epithelial cells (By similarity)., [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": 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": "Q2MJR1", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0070373 negative regulation of ERK1 and ERK2 cascade;GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway;GO:0010719 negative regulation of epithelial to mesenchymal transition;GO:1902747 negative regulation of lens fiber cell differentiation;GO:1902532 negative regulation of intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q2MJR0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IUH8-1", "uniprot_id": [ { "id": "SPP2C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IUH8", "type": "external" } ], "mass": 74503.0, "length": 684, "protein_name": "Signal peptide peptidase-like 2C", "gene_name": "SPPL2C", "organism": "Human", "refseq_name": "signal peptide peptidase-like 2C precursor", "refseq_ac": [ { "id": "NP_787078", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_787078", "type": "external" } ], "gene_names_uniprotkb": "SPPL2C; IMP5", "gene_names_refseq": "IMP5; SPPL2C", "protein_names_uniprotkb": "Signal peptide peptidase-like 2C; 3.4.23.-; IMP-5; Intramembrane protease 5; SPP-like 2C; SPPL2c", "protein_names_refseq": "IMP-5; SPP-like 2C; intramembrane protease 5; signal peptide peptidase-like 2C precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:162540)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "12139484;15293277;15385547;16415175;16829952;23481700;25418920;28904123;29557506;30733280;30733281;31844290;33637690;35051231", "class_list": "", "function": "Exome-wide age-of-onset analysis reveals exonic variants in ERN1 and SPPL2C associated with Alzheimer's disease. Publication Status: Online-Only, [RefSeq, PubMed]; In round spermatids, acts as a scaffold protein supporting FREY1 in IZUMO1 recruitment at the endoplasmic reticulum membrane and coordination of IZUMO1 complex assembly. Stabilizes FREY1 at the endoplasmic reticulum membrane through interaction. May recruit IZUMO1 interaction partners., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; SPP, SPPL2a, -2b, -2c, and -3 probably cleave type II-oriented substrate peptides as shown by consensus analysis [SPPL2c], [RefSeq, PubMed]; Sperm-specific intramembrane-cleaving aspartic protease (I-CLiP) that cleaves distinct tail-anchored proteins and SNARE proteins (PubMed:30733281). In elongated spermatids, modulates intracellular Ca(2+) homeostasis by controlling PLN abundance through proteolytic cleavage (By similarity). During spermatogenesis, processes SNARE proteins and impacts vesicular trafficking which supports compartmental reorganization in maturating spermatids and may play a role in formation of the acrosome (PubMed:30733281)., [UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; The sarco/endoplasmic reticulum Ca(2+)-ATPase (SERCA2)-regulating protein phospholamban (PLN) is identified as a physiological SPPL2c substrate., [RefSeq, PubMed]; These data suggest involvement of SPPL2c in acrosome formation during spermatogenesis. Erratum:[EMBO Rep. 2019 May;20(5):e48133. doi: 10.15252/embr.201948133. PMID: 31061204], [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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q8TC67;Q8WVZ6", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0042803 protein homodimerization activity;GO:0042500 aspartic endopeptidase activity, intramembrane cleaving", "go_cellular_component": "GO:0098554 cytoplasmic side of endoplasmic reticulum membrane;GO:0005765 lysosomal membrane;GO:0005789 endoplasmic reticulum membrane;GO:0030660 Golgi-associated vesicle membrane;GO:0098553 lumenal side of endoplasmic reticulum membrane", "go_biological_process": "GO:0035036 sperm-egg recognition;GO:0007342 fusion of sperm to egg plasma membrane involved in single fertilization;GO:0006874 intracellular calcium ion homeostasis;GO:0050821 protein stabilization;GO:0001675 acrosome assembly", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q8IUH8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000001000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQ55-1", "uniprot_id": [ { "id": "SSF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQ55", "type": "external" } ], "mass": 53194.0, "length": 473, "protein_name": "Suppressor of SWI4 1 homolog", "gene_name": "PPAN", "organism": "Human", "refseq_name": "PPAN-P2RY11 protein isoform 1", "refseq_ac": [ { "id": "NP_001035754", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035754", "type": "external" } ], "gene_names_uniprotkb": "PPAN; BXDC3; SSF1", "gene_names_refseq": "PPAN-P2RY11", "protein_names_uniprotkb": "Suppressor of SWI4 1 homolog; Brix domain-containing protein 3; Peter Pan homolog; Ssf-1", "protein_names_refseq": "PPAN-P2RY11 protein isoform 1; PPAN-P2RY11 readthrough transcript", "tax_id": 9606, "disease": "", "pathway": " (hsa:56342); (hsa:692312)", "pathway_count": 2, "publication_count": 100, "publication_id_list": "10944437;11237011;11278528;12429849;16964243;17081983;17322306;18212344;18452278;18669648;18691976;18707149;18767875;19007248;19413330;19415658;19651622;19664994;19664995;19691289;20058876;20068230;20068231;20112406;20166139;23481700;24366607;24714562;24715725;25418920;25576301;25645385;25892735;26154972;26375851;26758079;26811146;26929215;26992070;27503676;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28514659;28649982;28832583;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30410026;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33633747;33691108;33717175;33912179;33968037;33981976;34171305;35051231;35318648;35561310;35580925;36010968;36241641;36284347", "class_list": "", "function": "May have a role in cell growth., [UniProtKB]; This locus represents naturally occurring read-through transcription between the adjacent PPAN and P2RY11 genes. Alternative splicing results in two transcript variants, one of which encodes a fusion protein that shares sequence identity with each individual gene product. This transcript is found to be ubiquitously expressed and is up-regulated by agents inducing granulocytic differentiation. However, its functional significance in vivo remains unclear. [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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "C9J3F9;Q9BW97;Q9H170", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0019843 rRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0030687 preribosome, large subunit precursor", "go_biological_process": "GO:0000463 maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);GO:0006364 rRNA processing", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "Q9NQ55-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N4V2-1", "uniprot_id": [ { "id": "SVOP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N4V2", "type": "external" } ], "mass": 60769.0, "length": 548, "protein_name": "Synaptic vesicle 2-related protein", "gene_name": "SVOP", "organism": "Human", "refseq_name": "synaptic vesicle 2-related protein", "refseq_ac": [ { "id": "NP_061181", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061181", "type": "external" } ], "gene_names_uniprotkb": "SVOP", "gene_names_refseq": "SLC22B4; SVOP", "protein_names_uniprotkb": "Synaptic vesicle 2-related protein; SV2-related protein", "protein_names_refseq": "SV2 related protein homolog; solute carrier family 22 member B4; synaptic vesicle 2-related protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:55530)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;17714910;30410026;31154438;33392160;35051231", "class_list": "glycogene", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 447, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9NPW5", "ec_number_list": [], "go_molecular_function": "GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0030672 synaptic vesicle membrane;GO:0008021 synaptic vesicle;GO:0009925 basal plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0042908 xenobiotic transport", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8N4V2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BX26-1", "uniprot_id": [ { "id": "SYCP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BX26", "type": "external" } ], "mass": 175639.0, "length": 1530, "protein_name": "Synaptonemal complex protein 2", "gene_name": "SYCP2", "organism": "Human", "refseq_name": "synaptonemal complex protein 2", "refseq_ac": [ { "id": "NP_055073", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055073", "type": "external" } ], "gene_names_uniprotkb": "SYCP2; SCP2", "gene_names_refseq": "SCP-2; SCP2; SPGF1; SYCP2", "protein_names_uniprotkb": "Synaptonemal complex protein 2; SCP-2; Synaptonemal complex lateral element protein; hsSCP2", "protein_names_refseq": "synaptonemal complex lateral element protein; synaptonemal complex protein 2", "tax_id": 9606, "disease": "spermatogenic failure 1 (Disease Ontology:DOID:0070188); spermatogenic failure (Disease Ontology:DOID:0111910)", "pathway": " (hsa:10388); (R-HSA-1221632)", "pathway_count": 2, "publication_count": 25, "publication_id_list": "10341103;11237011;11673449;15125634;15235794;17322306;19146767;20378615;20634189;23481700;25576301;26334652;29393594;29557506;30379171;31866047;32157095;32502341;32938616;34087483;34357683;39202451;8794855;9008167;9285814", "class_list": "", "function": "Major component of the axial/lateral elements of synaptonemal complexes (SCS) during meiotic prophase. Plays a role in the assembly of synaptonemal complexes. Required for normal meiotic chromosome synapsis during oocyte and spermatocyte development and for normal male and female fertility. Required for insertion of SYCP3 into synaptonemal complexes. May be involved in the organization of chromatin by temporarily binding to DNA scaffold attachment regions. Requires SYCP3, but not SYCP1, in order to be incorporated into the axial/lateral elements., [UniProtKB, UniProtKB]; Novel Loss-of-Function SYCP2 Variants in Infertile Males Upgrade the Gene-Disease Clinical Validity Classification for SYCP2 and Male Infertility to Strong. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility., [RefSeq, PubMed]; SYCP2 may contribute to genetic instability during HPV-associated cancer development, [RefSeq, PubMed]; The synaptonemal complex is a proteinaceous structure that links homologous chromosomes during the prophase of meiosis. The protein encoded by this gene is a major component of the synaptonemal complex and may bind DNA at scaffold attachment regions. The encoded protein requires synaptonemal complex protein 3, but not 1, for inclusion in the synaptonemal 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "reported_glycation": 0, "reported_snv": 15, "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": "A2RUE5;O75763;Q5JX11;Q9NTX8;Q9UG27", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding", "go_cellular_component": "GO:0000794 condensed nuclear chromosome;GO:0005634 nucleus;GO:0000779 condensed chromosome, centromeric region;GO:0000800 lateral element;GO:0000795 synaptonemal complex", "go_biological_process": "GO:0051301 cell division;GO:0007130 synaptonemal complex assembly;GO:0007129 homologous chromosome pairing at meiosis;GO:0007131 reciprocal meiotic recombination;GO:0035825 homologous recombination", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q9BX26-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A1B0GVR7-1", "uniprot_id": [ { "id": "F240C_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A1B0GVR7", "type": "external" } ], "mass": 10834.0, "length": 95, "protein_name": "Protein FAM240C", "gene_name": "FAM240C", "organism": "Human", "refseq_name": "protein FAM240C isoform 2", "refseq_ac": [ { "id": "NP_001369297", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001369297", "type": "external" } ], "gene_names_uniprotkb": "FAM240C", "gene_names_refseq": "FAM240C", "protein_names_uniprotkb": "Protein FAM240C", "protein_names_refseq": "protein FAM240C isoform 2; protein FAM240C", "tax_id": 9606, "disease": "", "pathway": " (hsa:285095)", "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": "A0A1B0GVR7-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6NZ63-1", "uniprot_id": [ { "id": "STEAL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6NZ63", "type": "external" } ], "mass": 28815.0, "length": 245, "protein_name": "STEAP family member 1B", "gene_name": "STEAP1B", "organism": "Human", "refseq_name": "STEAP family member 1B isoform 1", "refseq_ac": [ { "id": "NP_001157932", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157932", "type": "external" } ], "gene_names_uniprotkb": "STEAP1B", "gene_names_refseq": "STEAP1B", "protein_names_uniprotkb": "STEAP family member 1B", "protein_names_refseq": "STEAP family member 1B isoform 1; STEAP family protein MGC87042", "tax_id": 9606, "disease": "", "pathway": " (hsa:256227)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11237011;25053991;25892735;28218747;28228285;28904123;29242379;29769354;30315122;31844290;32350084;32488085;32938616;33298915;33912179;33968037;34357683;35154160;35318648;35580925", "class_list": "", "function": "STEAP1B transcripts have similar structural features to STEAP1, but may encode proteins with less transmembrane domains. STEAP1B2 transcript is also overexpressed on neoplastic prostate, making it worth to evaluate its potential as cancer biomarker, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B5MCI2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005768 endosome;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q6NZ63-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A1B0GTR4-1", "uniprot_id": [ { "id": "SPRR5_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A1B0GTR4", "type": "external" } ], "mass": 11945.0, "length": 108, "protein_name": "Small proline-rich protein 5", "gene_name": "SPRR5", "organism": "Human", "refseq_name": "small proline-rich protein 5", "refseq_ac": [ { "id": "NP_001382364", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001382364", "type": "external" } ], "gene_names_uniprotkb": "SPRR5", "gene_names_refseq": "SPRR5", "protein_names_uniprotkb": "Small proline-rich protein 5", "protein_names_refseq": "putative small proline-rich protein 5; small proline-rich protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:110806278)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "30622217", "class_list": "", "function": "LINC00941 represses SPRR5, a previously uncharacterized molecule, which functions as an essential positive regulator of keratinocyte differentiation., [RefSeq, PubMed]; Positively regulates keratinocyte differentiation by inducing genes associated with epidermal differentiation., [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:0045618 positive regulation of keratinocyte differentiation", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A1B0GTR4-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A2A2V5-1", "uniprot_id": [ { "id": "SRTM1_HUMAN", "url": "https://www.uniprot.org/uniprot/A2A2V5", "type": "external" } ], "mass": 11458.0, "length": 107, "protein_name": "Serine-rich and transmembrane domain-containing protein 1", "gene_name": "SERTM1", "organism": "Human", "refseq_name": "serine-rich and transmembrane domain-containing protein 1", "refseq_ac": [ { "id": "NP_982276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_982276", "type": "external" } ], "gene_names_uniprotkb": "SERTM1; C13orf36", "gene_names_refseq": "C13orf36; SERTM1", "protein_names_uniprotkb": "Serine-rich and transmembrane domain-containing protein 1", "protein_names_refseq": "serine-rich and transmembrane domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:400120)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "32938616;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": 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": "Q8N469", "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": "A2A2V5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NGW2-1", "uniprot_id": [ { "id": "STRCL_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NGW2", "type": "external" } ], "mass": 192437.0, "length": 1772, "protein_name": "Putative stereocilin-like protein", "gene_name": "STRCP1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "STRCP1; STRCP", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative stereocilin-like protein; Stereocilin pseudogene 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness 16 (Disease Ontology:DOID:0110471)", "pathway": "", "pathway_count": 0, "publication_count": 13, "publication_id_list": "12825070;23481700;26154972;26791533;27600516;28832583;29557506;30315122;31844290;32387766;32488085;33392160;35051231", "class_list": "", "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": 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": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "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:0009986 cell surface;GO:0060091 kinocilium;GO:0032426 stereocilium tip", "go_biological_process": "GO:0007160 cell-matrix adhesion", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "A6NGW2-1", "record_type": "protein", "filter_code": "0000000.0000110.010000.000000000001000000.1000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P53597-1", "uniprot_id": [ { "id": "SUCA_HUMAN", "url": "https://www.uniprot.org/uniprot/P53597", "type": "external" } ], "mass": 36250.0, "length": 346, "protein_name": "Succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial", "gene_name": "SUCLG1", "organism": "Human", "refseq_name": "succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial precursor", "refseq_ac": [ { "id": "NP_003840", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003840", "type": "external" } ], "gene_names_uniprotkb": "SUCLG1", "gene_names_refseq": "GALPHA; MTDPS9; SUCLA1; SUCLG1", "protein_names_uniprotkb": "Succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial; 6.2.1.-; 6.2.1.4; 6.2.1.5; 6.2.1.9; Itaconyl--CoA ligase [ADP/GDP-forming] subunit alpha; Malyl--CoA ligase [ADP/GDP-forming] subunit alpha; SCS-alpha; Succinyl-CoA synthetase subunit alpha", "protein_names_refseq": "SCS-alpha; itaconyl--CoA ligase [ADP/GDP-forming] subunit alpha; malyl--CoA ligase [ADP/GDP-forming] subunit alpha; mitochondrial succinate--CoA ligase [ADP/GDP-forming] subunit alpha; succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial precursor; succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial; succinate-CoA ligase alpha subunit; succinyl-CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial; succinyl-CoA ligase [GDP-forming] subunit alpha, mitochondrial; succinyl-CoA synthetase subunit alpha", "tax_id": 9606, "disease": "mitochondrial DNA depletion syndrome 9 (Disease Ontology:DOID:0080128)", "pathway": " (hsa:8802); (R-HSA-71403)", "pathway_count": 2, "publication_count": 92, "publication_id_list": "1052766;10673423;10727444;11237011;11278619;12207025;13181903;14249115;14555658;14832224;14946179;15234968;15652751;15877282;15987702;16143825;16737955;16740313;17182618;17432878;17668387;18806796;18914071;1946331;19526370;19608861;2005110;20435888;20453710;20693550;20847235;21654843;23481700;23564345;23747254;24366607;25564869;25576301;25892735;26375851;26566883;26992070;27189937;27374498;27600516;28228285;28510447;28832583;28887308;29242379;29351928;29557506;29769354;30315122;30484775;30761759;30844107;31217245;31844290;32157095;32350084;32357974;32387766;32938616;33058874;33141586;34211107;34229054;34357683;34492704;34509645;35051231;35251023;35366151;36139014;36215666;36241641;36284347;36420423;38649537;38665916;40108300;40596516;40914422;8200987;8616157;9128182;9765290;9765291;9792106;9792662;9809442", "class_list": "", "function": "SUCLG1 restricts POLRMT succinylation to enhance mitochondrial biogenesis and leukemia progression., [RefSeq, PubMed]; Succinyl-CoA synthetase functions in the citric acid cycle (TCA), coupling the hydrolysis of succinyl-CoA to the synthesis of either ATP or GTP and thus represents the only step of substrate-level phosphorylation in the TCA (PubMed:34492704, PubMed:40108300). The alpha subunit of the enzyme binds the substrates coenzyme A and phosphate, while succinate binding and specificity for either ATP or GTP is provided by different beta subunits (By similarity). Also able to act as an itaconyl- and malyl-CoA synthetase (PubMed:40108300)., [UniProtKB, HAMAP, PubMed, PubMed]; This gene encodes the alpha subunit of the heterodimeric enzyme succinate coenzyme A ligase. This enzyme is targeted to the mitochondria and catalyzes the conversion of succinyl CoA and ADP or GDP to succinate and ATP or GTP. Mutations in this gene are the cause of the metabolic disorder fatal infantile lactic acidosis and mitochondrial DNA depletion. [provided by RefSeq, Feb 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "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": "Q9BWB0;Q9UNP6", "ec_number_list": [ { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "6.2.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.4", "type": "external" }, { "id": "6.2.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.5", "type": "external" }, { "id": "6.2.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.9", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0000166 nucleotide binding;GO:0004775 succinate-CoA ligase (ADP-forming) activity;GO:0004776 succinate-CoA ligase (GDP-forming) activity;GO:0004774 succinate-CoA ligase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:1902494 catalytic complex;GO:0045244 succinate-CoA ligase complex (GDP-forming);GO:0009361 succinate-CoA ligase complex (ADP-forming)", "go_biological_process": "GO:0006099 tricarboxylic acid cycle;GO:0006108 malate metabolic process;GO:1901289 succinyl-CoA catabolic process;GO:0110052 toxic metabolite repair", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "P53597-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P08240-1", "uniprot_id": [ { "id": "SRPRA_HUMAN", "url": "https://www.uniprot.org/uniprot/P08240", "type": "external" } ], "mass": 69811.0, "length": 638, "protein_name": "Signal recognition particle receptor subunit alpha", "gene_name": "SRPRA", "organism": "Human", "refseq_name": "signal recognition particle receptor subunit alpha isoform 2", "refseq_ac": [ { "id": "NP_001171313", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171313", "type": "external" } ], "gene_names_uniprotkb": "SRPRA; SRPR", "gene_names_refseq": "DP; SRPRA; SRPR; Sralpha", "protein_names_uniprotkb": "Signal recognition particle receptor subunit alpha; DP-alpha; Docking protein alpha; SR-alpha", "protein_names_refseq": "DP-alpha; SR-alpha; SRP receptor alpha subunit; SRP-alpha; docking protein alpha; signal recognition particle receptor (docking protein); signal recognition particle receptor subunit alpha isoform 2; signal recognition particle receptor subunit alpha", "tax_id": 9606, "disease": "", "pathway": " (hsa:6734); (R-HSA-1799339); (R-HSA-381038)", "pathway_count": 3, "publication_count": 102, "publication_id_list": "10.1101/2023.09.13.557529;10601334;10827079;11964406;12204115;12853463;15466936;15592455;16439358;16461360;16469117;16539657;16675701;17081983;18166647;18452278;18455985;18664523;18669648;18691976;19415658;20068231;20166139;20444697;21282569;22223895;22424782;22544926;23186163;23481700;24190977;24275569;24715725;25576301;25645385;25892735;26154972;26375851;26992070;27846572;27862975;28411811;28904123;29437277;29493099;29557506;30410026;30429286;30484775;30550790;30620550;31217245;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;3340536;33465208;33592498;33691108;33912179;33936100;33968037;33981976;34020957;34087483;34211107;34357683;34405274;34509645;34561969;34725712;35051231;35251023;35318648;35580925;36010968;36215666;36223592;36241641;36284347;37217939;37938771;38665916;40596516;40914422;7590364;8666242;9037597;9450183;9473480;9631292", "class_list": "", "function": "Component of the signal recognition particle (SRP) complex receptor (SR) (PubMed:16439358). Ensures, in conjunction with the SRP complex, the correct targeting of the nascent secretory proteins to the endoplasmic reticulum membrane system (PubMed:16675701, PubMed:34020957). Forms a guanosine 5'-triphosphate (GTP)-dependent complex with the SRP subunit SRP54 (PubMed:34020957). SRP receptor compaction and GTPase rearrangement drive SRP-mediated cotranslational protein translocation into the ER (PubMed:34020957)., [UniProtKB, PubMed, PubMed, PubMed]; Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes., [RefSeq, PubMed]; The gene encodes a subunit of the endoplasmic reticulum signal recognition particle receptor that, in conjunction with the signal recognition particle, is involved in the targeting and translocation of signal sequence tagged secretory and membrane proteins across the endoplasmic reticulum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 22, "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": "A6NIB3;B2R5Z8;B4E0H3;E9PJS4;Q9BVJ4", "ec_number_list": [], "go_molecular_function": "GO:0005047 signal recognition particle binding;GO:0003723 RNA binding;GO:0003924 GTPase activity;GO:0005525 GTP binding", "go_cellular_component": "GO:0005785 signal recognition particle receptor complex;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0006613 cotranslational protein targeting to membrane;GO:0045047 protein targeting to ER;GO:0006617 SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition", "synthesized_glycan_count": 0, "hit_score": 11.2, "record_id": "P08240-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35270-1", "uniprot_id": [ { "id": "SPRE_HUMAN", "url": "https://www.uniprot.org/uniprot/P35270", "type": "external" } ], "mass": 28048.0, "length": 261, "protein_name": "Sepiapterin reductase", "gene_name": "SPR", "organism": "Human", "refseq_name": "sepiapterin reductase", "refseq_ac": [ { "id": "NP_003115", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003115", "type": "external" } ], "gene_names_uniprotkb": "SPR", "gene_names_refseq": "SDR38C1; SPR", "protein_names_uniprotkb": "Sepiapterin reductase; 1.1.1.153; SPR", "protein_names_refseq": "Sepiapterin reductase (L-erythro-7,8-dihydrobiopterin forming); sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase); sepiapterin reductase; short chain dehydrogenase/reductase family 38C, member 1", "tax_id": 9606, "disease": "sepiapterin reductase deficiency (Disease Ontology:DOID:0111168); Parkinson's disease (Disease Ontology:DOID:14330); dystonia (Disease Ontology:DOID:543)", "pathway": " (hsa:6697); (R-HSA-1474151); (R-HSA-203615)", "pathway_count": 3, "publication_count": 70, "publication_id_list": "10350607;10376602;10376603;10469573;10531334;10559837;10781589;11208594;11237011;11443547;11498544;11825621;11879202;11893755;11988487;12799359;14530264;15476407;15598505;16650784;16696853;16722822;16778797;16864653;17159114;18171027;18446211;18511317;1883349;19147491;19663506;19666465;20511233;21898353;23186163;25576301;26093909;26992070;27613114;28467828;28671819;29393594;31844290;32157095;32350084;33592498;33903016;33968037;33981976;34019948;35051231;3536512;36215666;37296100;7512951;7563095;7663943;8068008;8137809;8137944;8307017;8440319;8502995;8692835;8798458;9188442;9325253;9580552;9712842;9792819", "class_list": "", "function": "Catalyzes the final one or two reductions in tetra-hydrobiopterin biosynthesis to form 5,6,7,8-tetrahydrobiopterin., [UniProtKB]; Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies. Review article, [RefSeq, PubMed]; The allele frequencies for the SPR c.596-2A > G (0.7%) polymorphism is not a major cause of Parkinson's disease in the Maltese. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an aldo-keto reductase that catalyzes the NADPH-dependent reduction of pteridine derivatives and is important in the biosynthesis of tetrahydrobiopterin (BH4). Mutations in this gene result in DOPA-responsive dystonia due to sepiaterin reductase deficiency. A pseudogene has been identified on chromosome 1. [provided by RefSeq, Jul 2008]., [RefSeq]; We earlier presented evidence for a physical interaction between ODC and SPR and we showed that RNAi-mediated knockdown of SPR expression significantly reduced native ODC enzyme activity and impeded Neuroblastoma cell proliferation. 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": 1, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K741;D6W5H2;Q53GI9;Q9UBB1", "ec_number_list": [ { "id": "1.1.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.153", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" } ], "go_molecular_function": "GO:0008106 alcohol dehydrogenase (NADP+) activity;GO:0004757 sepiapterin reductase (NADP+) activity;GO:0050661 NADP binding;GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:0005737 cytoplasm", "go_biological_process": "GO:0006809 nitric oxide biosynthetic process;GO:0006729 tetrahydrobiopterin biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "P35270-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P61011-1", "uniprot_id": [ { "id": "SRP54_HUMAN", "url": "https://www.uniprot.org/uniprot/P61011", "type": "external" } ], "mass": 55705.0, "length": 504, "protein_name": "Signal recognition particle subunit SRP54", "gene_name": "SRP54", "organism": "Human", "refseq_name": "signal recognition particle subunit SRP54 isoform 2", "refseq_ac": [ { "id": "NP_001139754", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139754", "type": "external" } ], "gene_names_uniprotkb": "SRP54", "gene_names_refseq": "SCN8; SRP54", "protein_names_uniprotkb": "Signal recognition particle subunit SRP54; 3.6.5.4; Signal recognition particle 54 kDa protein", "protein_names_refseq": "SRP54 GTPase; signal recognition particle 54 kDa protein; signal recognition particle 54kDa; signal recognition particle 54kD; signal recognition particle subunit SRP54 isoform 2; signal recognition particle subunit SRP54", "tax_id": 9606, "disease": "Shwachman-Diamond syndrome (Disease Ontology:DOID:0060479); severe congenital neutropenia 8 (Disease Ontology:DOID:0112135); neutropenia (Disease Ontology:DOID:1227)", "pathway": " (hsa:6729); (R-HSA-1799339)", "pathway_count": 2, "publication_count": 116, "publication_id_list": "10497032;11237011;11964406;12244299;12853463;14729963;16469117;18166647;18455985;18991276;20068231;20112406;20444697;22424782;22706990;23481700;24366607;24715725;25418920;25505266;25576301;25645385;25810538;26154972;26375851;26811146;26929215;26992070;27600516;27846572;27862975;28063628;28218747;28228285;28510447;28649982;28832583;28834231;28904123;28972538;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29914977;30315122;30410026;30524438;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32277798;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33053321;33141586;33227812;33298915;33392160;33465208;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34020957;34087483;34171305;34211107;34229054;34405274;34509645;34549814;34725712;34932366;35051231;35154160;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37074911;37217939;37938771;38665916;39894887;40596516;40914422;8722571;9511762;9631292", "class_list": "", "function": "Autosomal dominant Shwachman-Diamond syndrome with a novel heterozygous missense variant in the SRP54 gene causing severe phenotypic features., [RefSeq, PubMed]; Component of the signal recognition particle (SRP) complex, a ribonucleoprotein complex that mediates the cotranslational targeting of secretory and membrane proteins to the endoplasmic reticulum (ER). As part of the SRP complex, associates with the SRP receptor (SR) component SRPRA to target secretory proteins to the endoplasmic reticulum membrane. Binds to the signal sequence of presecretory proteins when they emerge from the ribosomes. Displays basal GTPase activity, and stimulates reciprocal GTPase activation of the SR subunit SRPRA. Forms a guanosine 5'-triphosphate (GTP)-dependent complex with the SR subunit SRPRA. SR compaction and GTPase mediated rearrangement of SR drive SRP-mediated cotranslational protein translocation into the ER. Requires the presence of SRP9/SRP14 and/or SRP19 to stably interact with RNA. Plays a role in proliferation and differentiation of granulocytic cells, neutrophils migration capacity and exocrine pancreas development., [UniProtKB, UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Congenital neutropenia with variable clinical presentation in novel mutation of the SRP54 gene., [RefSeq, PubMed]; SRP54 mutations induce congenital neutropenia via dominant-negative effects on XBP1 splicing., [RefSeq, PubMed]; Structural and Functional Impact of SRP54 Mutations Causing Severe Congenital Neutropenia., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 3, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2R759;B4DUW6;P13624", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0030942 endoplasmic reticulum signal peptide binding;GO:0003723 RNA binding;GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0043021 ribonucleoprotein complex binding", "go_cellular_component": "GO:0005786 signal recognition particle, endoplasmic reticulum targeting;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:0030851 granulocyte differentiation;GO:0006614 SRP-dependent cotranslational protein targeting to membrane;GO:0045047 protein targeting to ER;GO:0006617 SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition;GO:0006616 SRP-dependent cotranslational protein targeting to membrane, translocation", "synthesized_glycan_count": 0, "hit_score": 12.3, "record_id": "P61011-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P78539-1", "uniprot_id": [ { "id": "SRPX_HUMAN", "url": "https://www.uniprot.org/uniprot/P78539", "type": "external" } ], "mass": 51572.0, "length": 464, "protein_name": "Sushi repeat-containing protein SRPX", "gene_name": "SRPX", "organism": "Human", "refseq_name": "sushi repeat-containing protein SRPX isoform 2 precursor", "refseq_ac": [ { "id": "NP_001164221", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164221", "type": "external" } ], "gene_names_uniprotkb": "SRPX; ETX1", "gene_names_refseq": "DRS; ETX1; HEL-S-83p; SRPX1; SRPX", "protein_names_uniprotkb": "Sushi repeat-containing protein SRPX", "protein_names_refseq": "epididymis secretory sperm binding protein Li 83p; sushi repeat-containing protein SRPX isoform 2 precursor; sushi repeat-containing protein SRPX; sushi-repeat-containing protein, X chromosome", "tax_id": 9606, "disease": "", "pathway": " (hsa:8406)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "10.1038/emboj.2013.79;12152160;20406461;209648;22869377;23584533;23609930;25418920;25645385;27600516;28478503;29557506;29786170;30429286;31638245;31844290;32157095;32337544;32350084;32488085;33141586;33592498;35051231;35251023;35318648;36010968;36213313;36675190;8634708;8634709;9162095", "class_list": "", "function": "A Hypoxia Molecular Signature-Based Prognostic Model for Endometrial Cancer Patients. Publication Status: Online-Only, [RefSeq, PubMed]; Expression of drs mRNA in well-differentiated, moderately differentiated, and poorly differentiated lung adenocarcinoma tissues (drs; down-regulated by v-scr), [RefSeq, PubMed]; May be involved in phagocytosis during disk shedding, cell adhesion to cells other than the pigment epithelium or signal transduction., [UniProtKB]; PELO is subcellularly localized at the actin cytoskeleton, interacts with HAX1, EIF3G and SRPX proteins and that this interaction occurs at the cytoskeleton; this interaction may facilitate PELO to detect and degrade aberrant mRNAs. Publication Status: Online-Only, [RefSeq, PubMed]; SRPX1 co-accumulated with Abeta deposits in cerebral blood vessels of all autopsied cases with severe cerebral amyloid angiopathy (CAA); no SRPX1 co-accumulated with Abeta deposits in senile plaques. Furthermore, we demonstrated that both Abeta40 and Abeta42 bound to SRPX1 in vitro and enhanced SRPX1 expression in primary cultures of cerebrovascular smooth muscle cells. SRPX1 enhanced caspase activity induced by Abeta40., [RefSeq, PubMed]; The SRPX protein contains the P-DUDES structural domain in its C-terminal region. This domain has significant albeit remote sequence similarity to thioredoxin-like domains, and is predicted to possess an oxidoreductase function., [RefSeq, PubMed]; The findings of the present study suggest that targeting the Cancerassociated fibroblasts genes, SRPX and HMCN1, can inhibit ovarian cancer migration and invasion., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "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": 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": 1, "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": 7, "binding_glycan_count": 0, "secondary_ac_list": "A8K065;B3KWP8;B4DDB8;B4DQH5;F5H4D7;G3V1L0;Q4VX66;Q99652;Q99913", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0009986 cell surface;GO:0016020 membrane;GO:0031012 extracellular matrix;GO:0005776 autophagosome", "go_biological_process": "GO:0007155 cell adhesion;GO:0001845 phagolysosome assembly", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "P78539-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13243-1", "uniprot_id": [ { "id": "SRSF5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13243", "type": "external" } ], "mass": 31264.0, "length": 272, "protein_name": "Serine/arginine-rich splicing factor 5", "gene_name": "SRSF5", "organism": "Human", "refseq_name": "serine/arginine-rich splicing factor 5 isoform 1", "refseq_ac": [ { "id": "NP_001034554", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034554", "type": "external" } ], "gene_names_uniprotkb": "SRSF5; HRS; SFRS5; SRP40", "gene_names_refseq": "HRS; SFRS5; SRP40; SRSF5", "protein_names_uniprotkb": "Serine/arginine-rich splicing factor 5; Delayed-early protein HRS; Pre-mRNA-splicing factor SRP40; Splicing factor, arginine/serine-rich 5", "protein_names_refseq": "SR splicing factor 5; delayed-early protein HRS; pre-mRNA-splicing factor SRP40; serine/arginine-rich splicing factor 5 isoform 1; serine/arginine-rich splicing factor 5; splicing factor, arginine/serine-rich 5", "tax_id": 9606, "disease": "breast cancer (Disease Ontology:DOID:1612); colon adenocarcinoma (Disease Ontology:DOID:234); clear cell renal cell carcinoma (Disease Ontology:DOID:4467)", "pathway": " (hsa:6430); (R-HSA-159236); (R-HSA-72163); (R-HSA-72187); (R-HSA-72203); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 7, "publication_count": 225, "publication_id_list": "10228171;10323864;10489353;10668806;10669729;10882114;11014198;11060040;11073998;11101529;11233976;11237011;11256625;11259411;11259602;11579093;11739738;11747608;11756420;11979277;11991638;12093754;12176931;12411573;12414731;12477934;12871933;14519844;14625303;14713954;14749727;14759258;14762106;15037765;15084397;15565158;15684423;1577277;15998806;16314397;16314458;16809785;17000901;17081983;17095540;17128255;17190602;17332742;17606899;17984224;18288197;18322460;18364396;18411249;18423201;18452278;18593880;18669648;18957205;19054851;19103666;19165350;19217410;19536130;19608861;19651622;19836239;20068231;20112406;20129943;20423332;20573985;20695905;20844015;20980672;21295486;21406692;21536652;2176635;21911577;21947206;22110043;22207203;22365833;22813749;22893130;22928037;22959432;22961380;23186163;23222130;23236153;23299939;23345524;23536862;23826332;23874216;24076191;24149845;24196718;24244187;24275569;24304693;24316715;24407421;24448447;24714562;24737827;24914973;24981863;25301780;25301781;25469497;25555158;25576301;2558966;25662211;25836925;26092250;26385511;26420826;26969736;27108190;27377154;27459055;27683217;27846572;27862975;27920218;28062851;28063628;28076346;28096519;28502770;28510447;28781166;28832583;28904123;28911096;29186539;29242379;29274231;29301961;29360106;29361316;29393594;29493099;29557506;29632046;2963332;29902443;30139799;30257008;30315277;30429286;30599162;30705154;30728453;30765414;30975767;31154438;31217245;31409651;31530632;31844290;31848261;32157095;32179686;32265295;32329775;32357974;32387766;32400287;32494006;32816001;32897882;32938616;32983136;33177556;33214551;33243851;33446560;33465208;33592498;33849617;33912179;33968037;33981976;34019948;34229054;34301950;34509645;34822310;35051231;35177536;35215846;35385551;35561310;35580925;36010968;36064747;36284347;3757028;37938771;38665916;40596516;40914422;7556075;8352591;8566756;8608946;9016565;9242493;9409616;9434190;9512519;9524131;9531537;9539711;9618489;9659921;9660949;9671485;9701291;9731529", "class_list": "", "function": "CPEB2 m6A methylation regulates blood-tumor barrier permeability by regulating splicing factor SRSF5 stability. Publication Status: Online-Only, [RefSeq, PubMed]; Genes involved in glucocorticoid receptor signalling affect susceptibility to mood disorders., [RefSeq, PubMed]; Plays a role in constitutive splicing and can modulate the selection of alternative splice sites., [UniProtKB]; The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Alternative splicing results in multiple transcript variants. [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": 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": 14, "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": "O14797;Q16662;Q49AD6;Q6FGE0", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0043422 protein kinase B binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0016607 nuclear speck", "go_biological_process": "GO:0033120 positive regulation of RNA splicing;GO:0006397 mRNA processing;GO:0032869 cellular response to insulin stimulus;GO:0097421 liver regeneration;GO:0006376 mRNA splice site recognition", "synthesized_glycan_count": 0, "hit_score": 23.0, "record_id": "Q13243-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q496J9-1", "uniprot_id": [ { "id": "SV2C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q496J9", "type": "external" } ], "mass": 82342.0, "length": 727, "protein_name": "Synaptic vesicle glycoprotein 2C", "gene_name": "SV2C", "organism": "Human", "refseq_name": "synaptic vesicle glycoprotein 2C isoform 1", "refseq_ac": [ { "id": "NP_055794", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055794", "type": "external" } ], "gene_names_uniprotkb": "SV2C; KIAA1054", "gene_names_refseq": "SLC22B3; SV2C", "protein_names_uniprotkb": "Synaptic vesicle glycoprotein 2C", "protein_names_refseq": "solute carrier family 22 member B3; synaptic vesicle glycoprotein 2C isoform 1; synaptic vesicle protein 2C", "tax_id": 9606, "disease": "", "pathway": " (hsa:22987); (R-HSA-5250955); (R-HSA-5250968); (R-HSA-5250981)", "pathway_count": 4, "publication_count": 37, "publication_id_list": "12459720;15217342;16519520;16543415;18977120;19476346;19650874;20233039;21483489;21632541;22720883;23617838;24240280;27294781;27313224;28246328;28252640;29649119;30379171;31530632;31844290;32310270;33588752;33592498;33968037;34087483;34357683;35051231;36010968;37544580;8175689;8226912;8243676;8294407;8402889;9712688;9783750", "class_list": "", "function": "(Microbial infection) Possible receptor for C.botulinum neurotoxin type D (BoNT/D, botD); note that type D does not usually infect humans., [UniProtKB, PubMed]; (Microbial infection) Receptor for C.botulinum neurotoxin type A (BoNT/A, botA); the toxin probably binds via extracellular loop 4 (PubMed:27313224). Recognition by BoNT/A relies on both protein-protein and protein-N-glycosylation; glycosylation of Asn-559 increases its affinity for BoNT/A (PubMed:27313224). Also serves as a receptor for the closely related C.botulinum neurotoxin type A2; glycosylation is not essential but enhances the interaction (PubMed:29649119)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Correlation of SV2C rs1423099 single nucleotide polymorphism with sporadic Parkinson's disease in Han population in Southern China., [RefSeq, PubMed]; Differentiation of two human neuroblastoma cell lines alters SV2 expression patterns. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of Risk Loci for Parkinson Disease in Asians and Comparison of Risk Between Asians and Europeans: A Genome-Wide Association Study., [RefSeq, PubMed]; In classical mesial temporal sclerosis 1A, the expression of SV2 isoforms is altered with a selective increase of SV2C in sprouting mossy fibres., [RefSeq, PubMed]; N-linked glycosylation of SV2C is required for binding and uptake of botulinum neurotoxin A., [RefSeq, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Plays a role in the control of regulated secretion in neural and endocrine cells, enhancing selectively low-frequency neurotransmission. Positively regulates vesicle fusion by maintaining the readily releasable pool of secretory vesicles., [UniProtKB, UniProtKB]; These data establish SV2C as a mediator of dopamine neuron function and suggest that SV2C disruption is a unique feature of PD that likely contributes to dopaminergic dysfunction., [RefSeq, PubMed]", "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": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "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": 4, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 37, "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": "Q496K1;Q9UPU8", "ec_number_list": [], "go_molecular_function": "GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005886 plasma membrane;GO:0030672 synaptic vesicle membrane;GO:0008021 synaptic vesicle;GO:0098691 dopaminergic synapse", "go_biological_process": "GO:0007268 chemical synaptic transmission;GO:0006836 neurotransmitter transport;GO:2000300 regulation of synaptic vesicle exocytosis", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q496J9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100100000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4LDE5-1", "uniprot_id": [ { "id": "SVEP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4LDE5", "type": "external" } ], "mass": 390170.0, "length": 3571, "protein_name": "Sushi, von Willebrand factor type A, EGF and pentraxin domain-containing protein 1", "gene_name": "SVEP1", "organism": "Human", "refseq_name": "sushi, von Willebrand factor type A, EGF and pentraxin domain-containing protein 1 precursor", "refseq_ac": [ { "id": "NP_699197", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_699197", "type": "external" } ], "gene_names_uniprotkb": "SVEP1; C9orf13; CCP22; SELOB", "gene_names_refseq": "C9orf13; CCP22; POLYDOM; SEL-OB; SELOB; SVEP1", "protein_names_uniprotkb": "Sushi, von Willebrand factor type A, EGF and pentraxin domain-containing protein 1; CCP module-containing protein 22; Polydom; SEL-OB; Selectin-like osteoblast-derived protein; Serologically defined breast cancer antigen NY-BR-38", "protein_names_refseq": "CCP module-containing protein 22; selectin-like osteoblast-derived protein; selectin-like protein; serologically defined breast cancer antigen NY-BR-38; sushi, von Willebrand factor type A, EGF and pentraxin domain-containing protein 1 precursor; sushi, von Willebrand factor type A, EGF and pentraxin domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:79987)", "pathway_count": 1, "publication_count": 46, "publication_id_list": "10.1101/2023.09.13.557529;11062057;12747765;16206243;20236627;20361209;22171320;25576301;26552660;27846572;27892606;28657654;29391424;29557506;29789417;30459171;30484775;31154438;31530632;31844290;31848261;32157095;32387766;32488085;32502341;32938616;32938750;33912179;33936100;33968037;34171305;34357683;35051231;35254053;35289036;35494241;35580925;35802072;35900319;36215666;36284347;36792666;37074911;37100352;38409611;38665916", "class_list": "", "function": "Acts as regulator of ICAM1 and E-selectin during endotoxemia, [RefSeq, PubMed]; All together makes SEL-OB/SVEP1 an attractive marker for studying the role of stromal osteogenic cells and their interactions within the bone marrow microenvironment creating a network that regulates the skeletal homeostasis., [RefSeq, PubMed]; Decreased expression of SVEP1 is closely related to a cancer stem cell-like phenotype and poor prognosis in hepatocellular carcinoma., [RefSeq, PubMed]; EGR1 transcriptionally regulates SVEP1 to promote proliferation and migration in human coronary artery smooth muscle cells. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]; Required for morphological development, cell alignment and migration of lymphatic endothelial cells during embryonic development, potentially via modulation of ANGPT2-TIE1 signaling and subsequent activation of FOXC2 transcription (By similarity). Required for embryonic lymphatic vascular development, via mediating the correct formation of the first lymphovenous contact site and tight association of the lymphatic endothelium with the venous endothelium (By similarity). Represses PRKCA-mediated L-type voltage-gated channel Ca(2+) influx and ROCK-mediated calcium sensitivity in vascular smooth muscle cells, via its interaction with integrins, thereby inhibiting vasocontraction (PubMed:35802072). Promotes platelet activation, via its interaction with PEAR1 and subsequent activation of AKT/mTOR signaling (PubMed:36792666). Plays a role in epidermal development and keratinocyte differentiation, independent of cell-cell adhesion (PubMed:27892606). May play a role in initial cell attachment of stromal osteogenic cells (By similarity). May promote myoblast cell adhesion when in the presence of integrin ITGA9:ITGB1 (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; SVEP1 influences monocyte to macrophage differentiation via integrin alpha4beta1/alpha9beta1 and Rho/Rac signalling., [RefSeq, PubMed]; The integrin ligand SVEP1 regulates GPCR-mediated vasoconstriction via integrins alpha9beta1 and alpha4beta1., [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": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 22, "reported_o_glycosites_with_glycan": 10, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 22, "total_reported_o_glycosites": 10, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 22, "total_o_glycosites": 10, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 164, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 39, "disease_count": 0, "glyco_site_count": 34, "binding_glycan_count": 0, "secondary_ac_list": "Q0P675;Q5D213;Q5T938;Q5VTE4;Q5VTE5;Q7Z387;Q7Z3G3;Q8NBT9;Q96JU7;Q9H284;Q9H8J9", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0005178 integrin binding;GO:0005509 calcium ion binding;GO:0098640 integrin binding involved in cell-matrix adhesion", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "GO:0036303 lymph vessel morphogenesis;GO:0008544 epidermis development;GO:0045906 negative regulation of vasoconstriction;GO:0010572 positive regulation of platelet activation", "synthesized_glycan_count": 0, "hit_score": 11.8, "record_id": "Q4LDE5-1", "record_type": "protein", "filter_code": "0000000.1000101.001000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5MJ07-1", "uniprot_id": [ { "id": "SPXN5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5MJ07", "type": "external" } ], "mass": 8277.0, "length": 72, "protein_name": "Sperm protein associated with the nucleus on the X chromosome N5", "gene_name": "SPANXN5", "organism": "Human", "refseq_name": "sperm protein associated with the nucleus on the X chromosome N5", "refseq_ac": [ { "id": "NP_001009616", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009616", "type": "external" } ], "gene_names_uniprotkb": "SPANXN5", "gene_names_refseq": "CT11.10; SPANX-N5; SPANXN5", "protein_names_uniprotkb": "Sperm protein associated with the nucleus on the X chromosome N5; Nuclear-associated protein SPAN-Xn5; SPANX family member N5; SPANX-N5", "protein_names_refseq": "cancer/testis antigen family 11, member 10; nuclear-associated protein SPAN-Xn5; sperm protein associated with the nucleus on the X chromosome N5", "tax_id": 9606, "disease": "", "pathway": " (hsa:494197)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "14973187", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q5MJ07-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TH74-1", "uniprot_id": [ { "id": "STPG1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TH74", "type": "external" } ], "mass": 36786.0, "length": 334, "protein_name": "O(6)-methylguanine-induced apoptosis 2", "gene_name": "STPG1", "organism": "Human", "refseq_name": "O(6)-methylguanine-induced apoptosis 2 isoform 1", "refseq_ac": [ { "id": "NP_001185941", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185941", "type": "external" } ], "gene_names_uniprotkb": "STPG1; C1orf201", "gene_names_refseq": "C1orf201; MAPO2; STPG1", "protein_names_uniprotkb": "O(6)-methylguanine-induced apoptosis 2; MAPO2; Sperm-tail PG-rich repeat-containing protein 1", "protein_names_refseq": "O(6)-methylguanine-induced apoptosis 2 isoform 1; O(6)-methylguanine-induced apoptosis 2; O6-methylguanine-induced apoptosis 2; UPF0490 protein C1orf201; sperm-tail PG-rich repeat-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:90529)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11237011;16959974;19690332;23028632;25576301;28832583;29242379;29557506;30429286;30779550;31844290;32157095;32387766;32897882;33968037;33981976;35318648;36010968;38253038;39894887", "class_list": "", "function": "MAPO2 gene product might positively contribute to the induction of apoptosis triggered by O-methylguanine, [RefSeq, PubMed]; May positively contribute to the induction of apoptosis triggered by O(6)-methylguanine., [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": 1, "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": "Q49AP0;Q6P3R4;Q86VU9;Q8WVQ3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005737 cytoplasm", "go_biological_process": "GO:0043065 positive regulation of apoptotic process;GO:1902110 positive regulation of mitochondrial membrane permeability involved in apoptotic process", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q5TH74-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7L0J3-1", "uniprot_id": [ { "id": "SV2A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7L0J3", "type": "external" } ], "mass": 82695.0, "length": 742, "protein_name": "Synaptic vesicle glycoprotein 2A", "gene_name": "SV2A", "organism": "Human", "refseq_name": "synaptic vesicle glycoprotein 2A isoform 2", "refseq_ac": [ { "id": "NP_001265648", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265648", "type": "external" } ], "gene_names_uniprotkb": "SV2A; KIAA0736; PSEC0174", "gene_names_refseq": "DEE113; SLC22B1; SV2A; SV2", "protein_names_uniprotkb": "Synaptic vesicle glycoprotein 2A", "protein_names_refseq": "solute carrier family 22 member B1; synaptic vesicle glycoprotein 2A isoform 2", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 113 (Disease Ontology:DOID:0051085); developmental and epileptic encephalopathy (Disease Ontology:DOID:0112202); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:9900); (R-HSA-5250955); (R-HSA-5250968); (R-HSA-5250981); (R-HSA-5250992)", "pathway_count": 5, "publication_count": 48, "publication_id_list": "10.1101/2023.09.13.557529;12459720;15210974;15217342;16303743;16519520;16543415;18510355;18815274;19118561;19476346;19650874;19690332;20233039;21483489;21632541;22720883;24190977;26002053;28467828;28832583;28904123;29242379;29393594;29557506;29649119;31154438;31844290;32157095;32350084;33298915;33592498;33912179;34357683;34433824;35051231;36758444;36780942;36934603;37985816;8175689;8226912;8243676;8294407;8402889;9712688;9783750;9886085", "class_list": "glycogene", "function": "(Microbial infection) Receptor for the C.botulinum neurotoxin type A2 (BoNT/A, botA); glycosylation is not essential but enhances the interaction (PubMed:29649119). Probably also serves as a receptor for the closely related C.botulinum neurotoxin type A1., [UniProtKB, PubMed]; Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy., [RefSeq, PubMed]; Broadening the phenotypic spectrum of the presumably epilepsy-related SV2A gene variants., [RefSeq, PubMed]; Loss of SV2A promotes human neural stem cell apoptosis via p53 signaling., [RefSeq, PubMed]; Plays a role in the control of regulated secretion in neural and endocrine cells, enhancing selectively low-frequency neurotransmission. Positively regulates vesicle fusion by maintaining the readily releasable pool of secretory vesicles (By similarity)., [UniProtKB]; Reductions in synaptic marker SV2A in early-course Schizophrenia., [RefSeq, PubMed]; The protein encoded by this gene is one of three related synaptic vesicle proteins. The encoded protein may interact with synaptotagmin to enhance low frequency neurotransmission in quiescent neurons. [provided by RefSeq, Jun 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 830, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "D3DUZ7;O94841;Q5QNX8;Q7Z3L6;Q8NBJ6;Q9BVZ9", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0005911 cell-cell junction", "go_biological_process": "GO:0016082 synaptic vesicle priming", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q7L0J3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000001.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N2I9-1", "uniprot_id": [ { "id": "STK40_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N2I9", "type": "external" } ], "mass": 49001.0, "length": 435, "protein_name": "Serine/threonine-protein kinase 40", "gene_name": "STK40", "organism": "Human", "refseq_name": "serine/threonine-protein kinase 40 isoform 1", "refseq_ac": [ { "id": "NP_001269475", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269475", "type": "external" } ], "gene_names_uniprotkb": "STK40; SGK495; SHIK", "gene_names_refseq": "SHIK; STK40; SgK495", "protein_names_uniprotkb": "Serine/threonine-protein kinase 40; 2.7.11.1; SINK-homologous serine/threonine-protein kinase; SgK495; Sugen kinase 495", "protein_names_refseq": "SINK-homologous serine/threonine kinase; SINK-homologous serine/threonine-protein kinase; Ser/Thr-like kinase; serine/threonine-protein kinase 40 isoform 1; serine/threonine-protein kinase 40; sugen kinase 495", "tax_id": 9606, "disease": "", "pathway": " (hsa:83931)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "12471243;13679039;17344846;21872626;21993680;22645359;23481700;25505266;25576301;27920218;28228285;28832583;28834231;29242379;29493099;29557506;29632046;29789417;30429286;31154438;31844290;31848261;32157095;32161166;32488085;32983136;33592498;33633747;33912179;33981976;34171305;34932366;35051231;35580925;36010968;36284347;37915566;39304928", "class_list": "", "function": "Construction and validation of a novel senescence-related risk score can help predict the prognosis and tumor microenvironment of gastric cancer patients and determine that STK40 can affect the ROS accumulation and proliferation ability of gastric cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; Identification as a negative regulator of NF-kappaB- and p53-mediated gene transcription [SINK-homologous serine-threonine kinase], [RefSeq, PubMed]; May be a negative regulator of NF-kappa-B and p53-mediated gene transcription., [UniProtKB, PubMed]; STK40 inhibits trophoblast fusion by mediating COP1 ubiquitination to degrade P57[Kip2]. 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": "D3DPS8;Q5VTK8;Q5VTK9;Q6ZMN1;Q8N2J8;Q8N3I6;Q96HN6;Q96I44;Q9BSA3;Q9H7H6", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0043408 regulation of MAPK cascade", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q8N2I9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NHG7-1", "uniprot_id": [ { "id": "SVIP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NHG7", "type": "external" } ], "mass": 8443.0, "length": 77, "protein_name": "Small VCP/p97-interacting protein", "gene_name": "SVIP", "organism": "Human", "refseq_name": "small VCP/p97-interacting protein isoform 1", "refseq_ac": [ { "id": "NP_001307269", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307269", "type": "external" } ], "gene_names_uniprotkb": "SVIP", "gene_names_refseq": "SVIP", "protein_names_uniprotkb": "Small VCP/p97-interacting protein", "protein_names_refseq": "small VCP/p97-interacting protein isoform 1; small VCP/p97-interacting protein", "tax_id": 9606, "disease": "syndrome (Disease Ontology:DOID:225)", "pathway": " (hsa:258010); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 26, "publication_id_list": "17872946;21896481;21909394;23186163;23650620;25255805;25502872;28657654;29557506;30429286;30683843;31154438;31844290;31848261;32157095;32350084;33479240;33592498;33968037;35042898;35251023;37374283;37408196;39117616;39894887;8692836", "class_list": "", "function": "A Determination of p97/VCP (Valosin Containing Protein) and SVIP (Small VCP Interacting Protein) Expression Patterns in Human Testis. Publication Status: Online-Only, [RefSeq, PubMed]; Differential Expression and Function of SVIP in Breast Cancer Cell Lines and In Silico Analysis of Its Expression and Prognostic Potential in Human Breast Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Endoplasmic reticulum-associated degradation (ERAD) is the pathway by which misfolded proteins in the endoplasmic reticulum are targeted to the proteasome for degradation. Multiple specialized proteins interact with one another during ERAD to complete this process. The protein encoded by this gene is an inhibitor of ERAD, functioning to disrupt the interaction of these protein components. This downregulation of ERAD may be needed to protect the cell from overactive protein degradation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]., [RefSeq]; Negative regulator of the ER-associated degradation pathway (ERAD) of misfolded proteins. It competes with AMFR/gp78 for binding VCP/p97, and inhibits AMFR/gp78-VCP/p97 complex formation that is required for degradation of ERAD substrates (PubMed:17872946). Involved in the regulation of adrenal cortisol and dehydroepiandrosterone (DHEA) biosynthesis (PubMed:35042898)., [UniProtKB, PubMed, PubMed]; Overexpression of SVIP can protect HepG2 cells from the toxicity of CCl4, which could be enhanced by starvation. Publication Status: Online-Only, [RefSeq, PubMed]; SVIP is a molecular determinant of lysosomal dynamic stability, neurodegeneration and lifespan. Publication Status: Online-Only, [RefSeq, PubMed]; SVIP is an endogenous inhibitor of ERAD that acts through regulating the assembly of the gp78-p97/VCP-Derlin1 complex., [RefSeq, PubMed]; SVIP plays a regulatory role in p97 subcellular localization and is a novel regulator of autophagy., [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": 3, "reported_glycation": 0, "reported_snv": 2, "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:0051117 ATPase binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0070821 tertiary granule membrane", "go_biological_process": "GO:0010508 positive regulation of autophagy;GO:0031333 negative regulation of protein-containing complex assembly;GO:1904240 negative regulation of VCP-NPL4-UFD1 AAA ATPase complex assembly;GO:1904153 negative regulation of retrograde protein transport, ER to cytosol;GO:1904293 negative regulation of ERAD pathway", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q8NHG7-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WTU2-1", "uniprot_id": [ { "id": "SRB4D_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WTU2", "type": "external" } ], "mass": 60819.0, "length": 575, "protein_name": "Scavenger receptor cysteine-rich domain-containing group B protein", "gene_name": "SSC4D", "organism": "Human", "refseq_name": "scavenger receptor cysteine-rich domain-containing group B protein precursor", "refseq_ac": [ { "id": "NP_542782", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_542782", "type": "external" } ], "gene_names_uniprotkb": "SSC4D; SRCRB4D", "gene_names_refseq": "S4D-SRCRB; SRCRB-S4D; SRCRB4D; SSC4D", "protein_names_uniprotkb": "Scavenger receptor cysteine-rich domain-containing group B protein; Four scavenger receptor cysteine-rich domains-containing protein; S4D-SRCRB", "protein_names_refseq": "four scavenger receptor cysteine-rich domains-containing protein; scavenger receptor cysteine rich domain containing, group B (4 domains); scavenger receptor cysteine rich family, 4 domains; scavenger receptor cysteine-rich domain-containing group B protein precursor; scavenger receptor cysteine-rich domain-containing group B protein; scavenger receptor cysteine-rich protein SRCRB-S4D", "tax_id": 9606, "disease": "", "pathway": " (hsa:136853)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "12466895;29557506;29605689;30459171;33592498;35003072;35051231", "class_list": "", "function": "Cloning of S4D-SRCRB, a new soluble member of the group B scavenger receptor cysteine-rich family (SRCR-SF) mapping to human chromosome 7q11.23., [RefSeq, PubMed]; Physical Interactions With Bacteria and Protozoan Parasites Establish the Scavenger Receptor SSC4D as a Broad-Spectrum Pattern Recognition Receptor. Publication Status: Online-Only, [RefSeq, PubMed]; The scavenger receptor cysteine-rich (SRCR) superfamily is an ancient and highly conserved group of cell surface and/or secreted proteins, some of which are involved in the development of the immune system and the regulation of both innate and adaptive immune responses. Group B SRCR domains usually contain 8 regularly spaced cysteines that give rise to a well-defined intradomain disulfide-bond pattern.[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": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "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": "Q2HIZ5;Q6ZMG3;Q96BF5", "ec_number_list": [], "go_molecular_function": "GO:0005044 scavenger receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8WTU2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BYE4-1", "uniprot_id": [ { "id": "SPR2G_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BYE4", "type": "external" } ], "mass": 8158.0, "length": 73, "protein_name": "Small proline-rich protein 2G", "gene_name": "SPRR2G", "organism": "Human", "refseq_name": "small proline-rich protein 2G", "refseq_ac": [ { "id": "NP_001014313", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014313", "type": "external" } ], "gene_names_uniprotkb": "SPRR2G", "gene_names_refseq": "SPRR2G", "protein_names_uniprotkb": "Small proline-rich protein 2G; SPR-2G", "protein_names_refseq": "SPR-2G; small proline-rich protein 2G", "tax_id": 9606, "disease": "", "pathway": " (hsa:6706); (R-HSA-6809371)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11279051;11350120;11380615;11590230;12902340;15033990;15337775;15797384;15803139;16061697;16639001;17515931;17562024;17596512;18643845;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23404381;23629652;25926655;26390218;7543090;8824274;8999895;9395522;9565599", "class_list": "", "function": "Association of psoriasis to PGLYRP and SPRR genes at PSORS4 locus on 1q shows heterogeneity between Finnish, Swedish and Irish families., [RefSeq, PubMed]; Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the formation of an insoluble envelope beneath the plasma membrane (By similarity)., [UniProtKB]; High SPRR2G expression is associated with squamous cell carcinomas of the vulva., [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": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0001533 cornified envelope", "go_biological_process": "GO:0031424 keratinization;GO:0008544 epidermis development;GO:0030216 keratinocyte differentiation", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q9BYE4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9C0F3-1", "uniprot_id": [ { "id": "ZN436_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9C0F3", "type": "external" } ], "mass": 54277.0, "length": 470, "protein_name": "Zinc finger protein 436", "gene_name": "ZNF436", "organism": "Human", "refseq_name": "zinc finger protein 436 isoform 1", "refseq_ac": [ { "id": "NP_001070663", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070663", "type": "external" } ], "gene_names_uniprotkb": "ZNF436; KIAA1710", "gene_names_refseq": "ZNF436; ZNF; Zfp46", "protein_names_uniprotkb": "Zinc finger protein 436", "protein_names_refseq": "DNA-binding protein; zinc finger protein 436 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:80818); (R-HSA-212436)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;16959974;17089209;18452278;2163759;25576301;26992070;28832583;29242379;29393594;29493099;29557506;30429286;31178130;31844290;32157095;32983136;33123756;33981976;34861581;35051231;35580925;37904225;39894887;8183939;8769649;9637681;9653119", "class_list": "", "function": "Chromosome 1p36 candidate gene ZNF436 predicts the prognosis of neuroblastoma: a bioinformatic analysis. Publication Status: Online-Only, [RefSeq, PubMed]; May be a transcriptional repressor., [UniProtKB, PubMed]; MicroRNA-4317 suppresses the progression of hepatocellular carcinoma by targeting ZNF436-mediated PI3K/AKT signaling pathway., [RefSeq, PubMed]; ZNF436 has a role in promoting tumor cell proliferation through transcriptional activation of BCL10 in glioma, [RefSeq, PubMed]; ZNF436 is a member of the zinc finger transcription factor family and may act as a negative regulator in gene transcription mediated by the MAPK signaling pathways., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q658I9", "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:0005654 nucleoplasm", "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": 3.9, "record_id": "Q9C0F3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WWQ8-1", "uniprot_id": [ { "id": "STAB2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WWQ8", "type": "external" } ], "mass": 276988.0, "length": 2551, "protein_name": "Stabilin-2", "gene_name": "STAB2", "organism": "Human", "refseq_name": "stabilin-2 precursor", "refseq_ac": [ { "id": "NP_060034", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060034", "type": "external" } ], "gene_names_uniprotkb": "STAB2; FEEL2; FELL; FEX2; HARE", "gene_names_refseq": "FEEL2; FELE-2; FELL2; FEX2; HARE; SCARH1; STAB2", "protein_names_uniprotkb": "Stabilin-2; 190 kDa hyaluronan receptor for endocytosis; FAS1 EGF-like and X-link domain-containing adhesion molecule 2; FEEL-2; Fasciclin, EGF-like, laminin-type EGF-like and link domain-containing scavenger receptor 2; Hyaluronan receptor for endocytosis", "protein_names_refseq": "CD44-like precursor FELL; FAS1 EGF-like and X-link domain containing adhesion molecule-2; fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-2; hepatic hyaluronan clearance receptor; hyaluronan receptor for endocytosis; hyaluronic acid receptor for endocytosis; stabilin-2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:55576); (R-HSA-2142845); (R-HSA-2160916); (R-HSA-3000497)", "pathway_count": 4, "publication_count": 71, "publication_id_list": "10037799;11237011;11350981;11568288;11829752;12077138;12473645;12626425;1426053;14514708;15035633;15090545;15208308;15345716;15345724;15503855;15510212;15572036;16104017;16164023;16670288;1703543;17050540;17145755;17540771;17675564;17962816;18230608;18434317;18499864;18519035;18573870;19159218;19359419;19726632;20166139;20466649;21030611;21480214;23509262;24275569;24715725;24847057;24942734;25645385;26375851;27862975;28514659;29557506;2971395;30779550;31492838;31844290;32387766;3468507;34863303;35051231;37074911;37583001;37926735;37938771;38480573;38891096;8282124;8798477;8798544;8890751;8901634;9083017;9601098;9712871", "class_list": "", "function": "A novel mutation of SATB2 inhibits odontogenesis of human dental pulp stem cells through Wnt/beta-catenin signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Amino acid sequence of 190-kDa protein composed of 1416 amino acids and alignment with rat sequence, [RefSeq, PubMed]; Code for homologous transmembrane proteins featuring seven fasciclin-like adhesion domains, 18-20 epidermal-growth-factor domains, one X-link domain and three to six B-(X(7))-B hyaluronan-binding motifs, [RefSeq, PubMed]; Highly oxidized albumin is cleared by liver sinusoidal endothelial cells via the receptors stabilin-1 and -2. Publication Status: Online-Only, [RefSeq, PubMed]; Loss of SATB2 and CDX2 expression is associated with DNA mismatch repair protein deficiency and BRAF mutation in colorectal cancer., [RefSeq, PubMed]; Oncogenic Role of SATB2 In Vitro: Regulator of Pluripotency, Self-Renewal, and Epithelial-Mesenchymal Transition in Prostate Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Phosphatidylserine receptor that enhances the engulfment of apoptotic cells. Hyaluronan receptor that binds to and mediates endocytosis of hyaluronic acid (HA). Also acts, in different species, as a primary systemic scavenger receptor for heparin (Hep), chondroitin sulfate (CS), dermatan sulfate (DS), nonglycosaminoglycan (GAG), acetylated low-density lipoprotein (AcLDL), pro-collagen propeptides and advanced glycation end products (AGE). May serve to maintain tissue integrity by supporting extracellular matrix turnover or it may contribute to maintaining fluidity of bodily liquids by resorption of hyaluronan. Counter receptor which plays an important role in lymphocyte recruitment in the hepatic vasculature. Binds to both Gram-positive and Gram-negative bacteria and may play a role in defense against bacterial infection. The proteolytically processed 190 kDa form also functions as an endocytosis receptor for heparin internalization as well as HA and CS., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Stabilin-2 mediated apoptotic cell phagocytosis induces interleukin-10 expression by p38 and Pbx1 signaling., [RefSeq, PubMed]; This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 15 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to bind and endocytose ligands such as hyaluronan, low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein has been shown to cycle between the plasma membrane and lysosomes. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 25, "predicted_n_glycosites": 25, "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": 3, "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": 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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 177, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 0, "glyco_site_count": 30, "binding_glycan_count": 0, "secondary_ac_list": "Q6ZMK2;Q7Z5N9;Q86UR4;Q8IUG9;Q8TES1;Q9H7H7;Q9NRY3", "ec_number_list": [], "go_molecular_function": "GO:0005044 scavenger receptor activity;GO:0005509 calcium ion binding;GO:0015035 protein-disulfide reductase activity;GO:0005041 low-density lipoprotein particle receptor activity;GO:0030169 low-density lipoprotein particle binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane;GO:0030666 endocytic vesicle membrane", "go_biological_process": "GO:0001525 angiogenesis;GO:0006897 endocytosis;GO:0007155 cell adhesion;GO:0050830 defense response to Gram-positive bacterium;GO:0006898 receptor-mediated endocytosis", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "Q8WWQ8-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100100010001.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BS31-1", "uniprot_id": [ { "id": "ZN649_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BS31", "type": "external" } ], "mass": 57683.0, "length": 505, "protein_name": "Zinc finger protein 649", "gene_name": "ZNF649", "organism": "Human", "refseq_name": "zinc finger protein 649", "refseq_ac": [ { "id": "NP_075562", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_075562", "type": "external" } ], "gene_names_uniprotkb": "ZNF649", "gene_names_refseq": "ZNF649", "protein_names_uniprotkb": "Zinc finger protein 649", "protein_names_refseq": "zinc finger protein 649", "tax_id": 9606, "disease": "", "pathway": " (hsa:65251); (R-HSA-212436); (R-HSA-9843940)", "pathway_count": 3, "publication_count": 36, "publication_id_list": "10235266;10330177;11237011;11395415;11959841;12869583;14519192;14536086;15175151;15882967;15896744;15950191;16567619;16606702;16719718;16954381;18082607;2028256;2163759;25274305;26813693;27693347;27920218;28273063;29242379;29632046;31217245;31289231;31427381;31848261;38253038;8183939;8769649;9016654;9637681;9653119", "class_list": "", "function": "These results suggest that ZNF649 protein may act as a transcriptional repressor in mitogen-activated protein kinase signaling pathway to mediate cellular functions., [RefSeq, PubMed]; Transcriptional repressor. Regulator of transcriptional factor complexes and may suppress SRE and AP-1 transcription activities mediated by growth factor signaling pathways., [UniProtKB, PubMed]; We detected African-specific SNPs at ZNF649 and LSAMP, with associations of genome-wide significance for ulcerative colitis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8MYJ5;B2RDC4;Q9H9N2", "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:0003677 DNA binding", "go_cellular_component": "GO:0005615 extracellular space;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": 3.9, "record_id": "Q9BS31-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8MT33-1", "uniprot_id": [ { "id": "SYC1L_HUMAN", "url": "https://www.uniprot.org/uniprot/A8MT33", "type": "external" } ], "mass": 27397.0, "length": 242, "protein_name": "Synaptonemal complex central element protein 1-like", "gene_name": "SYCE1L", "organism": "Human", "refseq_name": "synaptonemal complex central element protein 1-like isoform 1", "refseq_ac": [ { "id": "NP_001123451", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123451", "type": "external" } ], "gene_names_uniprotkb": "SYCE1L", "gene_names_refseq": "MRP2; SYCE1L", "protein_names_uniprotkb": "Synaptonemal complex central element protein 1-like; Meiosis-related protein", "protein_names_refseq": "meiosis-related protein; synaptonemal complex central element protein 1-like isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:100130958)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "May be involved in meiosis., [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": "A6NF23", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000795 synaptonemal complex", "go_biological_process": "GO:0007130 synaptonemal complex assembly", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A8MT33-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "M0QZD8-1", "uniprot_id": [ { "id": "M0QZD8_HUMAN", "url": "https://www.uniprot.org/uniprot/M0QZD8", "type": "external" } ], "mass": 357809.0, "length": 3266, "protein_name": "Vitellogenin domain-containing protein", "gene_name": "LOC400499", "organism": "Human", "refseq_name": "putative uncharacterized protein LOC400499 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001382434", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001382434", "type": "external" } ], "gene_names_uniprotkb": "LOC400499", "gene_names_refseq": "APOLTP", "protein_names_uniprotkb": "Vitellogenin domain-containing protein", "protein_names_refseq": "putative uncharacterized protein LOC400499 isoform 2 precursor", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 4, "publication_id_list": "11237011;34171305;34509645;35580925", "class_list": "", "function": "", "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, 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"0000000.1000100.001000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0M3HER8-1", "uniprot_id": [ { "id": "A0A0M3HER8_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0M3HER8", "type": "external" } ], "mass": 62799.0, "length": 536, "protein_name": "Golgin A6 family like 10", "gene_name": "GOLGA6L10", "organism": "Human", "refseq_name": "golgin subfamily A member 6-like protein 10 isoform 2", "refseq_ac": [ { "id": "NP_001309329", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309329", "type": "external" } ], "gene_names_uniprotkb": "GOLGA6L10", "gene_names_refseq": "GOLGA6L10; GOLGA6L18", "protein_names_uniprotkb": "Golgin A6 family like 10", "protein_names_refseq": "golgi autoantigen, golgin subfamily a, 6-like 10; golgin A6 family-like 18; golgin subfamily A member 6-like protein 10 isoform 2; putative golgin subfamily A member 6-like protein 10", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, 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"go_molecular_function": "GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0005669 transcription factor TFIID complex", "go_biological_process": "GO:0051123 RNA polymerase II preinitiation complex assembly", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A1W2PPL8-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A1W2PQ64-1", "uniprot_id": [ { "id": "S72L5_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A1W2PQ64", "type": "external" } ], "mass": 22451.0, "length": 194, "protein_name": "RNA polymerase II subunit A C-terminal domain phosphatase SSU72 like protein 5", "gene_name": "SSU72L5", "organism": "Human", "refseq_name": "RNA polymerase II subunit A C-terminal domain phosphatase SSU72 like protein 5", "refseq_ac": [ { "id": "NP_001400931", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001400931", "type": "external" } ], "gene_names_uniprotkb": "SSU72L5", "gene_names_refseq": "SSU72L5; SSU72P5", "protein_names_uniprotkb": "RNA polymerase II subunit A C-terminal domain phosphatase SSU72 like protein 5; 3.1.3.16; CTD phosphatase SSU72L5; RNA polymerase II subunit A C-terminal domain phosphatase SSU72L5", "protein_names_refseq": "CTD phosphatase SSU72L5; RNA polymerase II subunit A C-terminal domain phosphatase SSU72 like protein 5; RNA polymerase II subunit A C-terminal domain phosphatase SSU72L5; SSU72 RNA polymerase II CTD phosphatase homolog pseudogene 5; SSU72 pseudogene 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:196120)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "Protein phosphatase that catalyzes the dephosphorylation of the C-terminal domain of RNA polymerase II. Plays a role in RNA processing and termination., [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": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "3.1.3.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.52", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.1.3.74", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.74", "type": "external" } ], "go_molecular_function": "GO:0008420 RNA polymerase II CTD heptapeptide repeat phosphatase activity", "go_cellular_component": "GO:0005847 mRNA cleavage and polyadenylation specificity factor complex", "go_biological_process": "GO:0006369 termination of RNA polymerase II transcription;GO:0031124 mRNA 3'-end processing", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A0A1W2PQ64-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0J9YXV3-1", "uniprot_id": [ { "id": "GREP1_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0J9YXV3", "type": "external" } ], "mass": 54285.0, "length": 536, "protein_name": "Glycine-rich extracellular protein 1", "gene_name": "GREP1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "GREP1; LINC00514", "gene_names_refseq": "", "protein_names_uniprotkb": "Glycine-rich extracellular protein 1; Long intergenic non-protein coding RNA 514", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:283875)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;33510483", "class_list": "", "function": "Could support the secretion of the hormone GDF15 in cancer cells., [UniProtKB, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A0A0J9YXV3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60284-1", "uniprot_id": [ { "id": "ST18_HUMAN", "url": "https://www.uniprot.org/uniprot/O60284", "type": "external" } ], "mass": 115155.0, "length": 1047, "protein_name": "Suppression of tumorigenicity 18 protein", "gene_name": "ST18", "organism": "Human", "refseq_name": "suppression of tumorigenicity 18 protein isoform a", "refseq_ac": [ { "id": "NP_055497", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055497", "type": "external" } ], "gene_names_uniprotkb": "ST18; KIAA0535; ZNF387", "gene_names_refseq": "NZF-3; NZF3; ST18; ZC2H2C3; ZC2HC10; ZNF387", "protein_names_uniprotkb": "Suppression of tumorigenicity 18 protein; Zinc finger protein 387", "protein_names_refseq": "ST18, C2H2C-type zinc finger; neural zinc finger transcription factor 3; suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein); suppression of tumorigenicity 18 protein isoform a; suppression of tumorigenicity 18 protein; suppression of tumorigenicity 18, zinc finger; zinc finger protein 387", "tax_id": 9606, "disease": "", "pathway": " (hsa:9705)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;15489893;15777939;18676404;24715725;30078552;31057535;31844290;33205400;33640202;34600138;35051231;35396567", "class_list": "", "function": "Ectopic ST18 expression in MCF-7 breast cancer cells strongly inhibits colony formation in soft agar and the formation of tumors in a xenograft mouse model, [RefSeq, PubMed]; Fibroblasts that overexpress ST18 by transient transfection exhibit significantly increased apoptosis and increased expression of TNF-alpha, interleukin (IL) -1alpha, and IL-6., [RefSeq, PubMed]; Genome-wide association study identifies susceptibility loci of brain atrophy to NFIA and ST18 in Alzheimer's disease., [RefSeq, PubMed]; Measurable Residual Disease Monitoring of SPAG6, ST18, PRAME, and XAGE1A Expression in Peripheral Blood May Detect Imminent Relapse in Childhood Acute Myeloid Leukemia., [RefSeq, PubMed]; Repressor that binds to DNA sequences containing a bipartite element consisting of a direct repeat of the sequence 5'-AAAGTTT-3' separated by 2-9 nucleotides. Represses basal transcription activity from target promoters (By similarity). Inhibits colony formation in cultured breast cancer cells., [UniProtKB, PubMed]; ST18 Enhances PV-IgG-Induced Loss of Keratinocyte Cohesion in Parallel to Increased ERK Activation. Publication Status: Online-Only, [RefSeq, PubMed]; ST18 affects cell-cell adhesion in pemphigus vulgaris in a tumour necrosis factor-alpha-dependent fashion., [RefSeq, PubMed]; Up-regulation of ST18 in pemphigus vulgaris drives a self-amplifying p53-dependent pathomechanism resulting in decreased desmoglein 3 expression. 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 52, "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": "Q17RY1", "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:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin;GO:0032993 protein-DNA complex", "go_biological_process": "GO:0070498 interleukin-1-mediated signaling pathway;GO:0006351 DNA-templated transcription;GO:0008285 negative regulation of cell population proliferation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0010468 regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "O60284-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P78524-1", "uniprot_id": [ { "id": "DEN2B_HUMAN", "url": "https://www.uniprot.org/uniprot/P78524", "type": "external" } ], "mass": 126485.0, "length": 1137, "protein_name": "DENN domain-containing protein 2B", "gene_name": "DENND2B", "organism": "Human", "refseq_name": "DENN domain-containing protein 2B isoform 1", "refseq_ac": [ { "id": "NP_005409", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005409", "type": "external" } ], "gene_names_uniprotkb": "DENND2B; HTS1; ST5", "gene_names_refseq": "DENND2B; HTS1; ST5; p126", "protein_names_uniprotkb": "DENN domain-containing protein 2B; HeLa tumor suppression 1; Suppression of tumorigenicity 5 protein", "protein_names_refseq": "DENN domain-containing protein 2B isoform 1; DENN/MADD domain containing 2B; heLa tumor suppression 1; suppression of tumorigenicity 5 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:6764); (R-HSA-8876198)", "pathway_count": 2, "publication_count": 213, "publication_id_list": "10229203;10818110;10990452;11038176;11179213;11237011;11516400;11528127;11689439;11703925;11746448;11784320;11917121;12058051;12221131;12244319;12364329;12427552;12475894;12684051;12944476;12972505;1390339;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;17322306;17488286;17562788;17574030;17646400;17671165;17678623;18076383;18094055;18354496;18367545;1845915;18477474;18559336;18585354;18664496;18669648;18701652;18779367;18804435;1900457;19109890;19345684;19403694;19490898;19620288;19656848;19664995;19725050;19729655;19745841;20008558;20068231;20154091;20159109;20159556;20305638;20308558;20404108;20434987;20592283;20797862;20851765;20937701;21041651;2115402;21183348;21187289;21216617;21273506;21330364;21421921;21445324;21458671;21532587;21554507;21586568;21683469;21706022;21718402;21776405;21951725;22013193;22065758;22072793;22171327;22365832;22433857;22511774;22581368;22595670;22622570;22648168;22653444;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;24275569;24296415;24644286;24694596;24719330;24891604;24917561;24967941;25074980;25341920;25343031;25472813;25576301;25645385;25648148;25713415;25925668;26055712;26177209;26245486;26434594;26538022;26925400;26936971;27041585;27044746;27103185;27246931;27329675;28514659;29030480;29242379;29393594;29557506;30484775;31217245;31707778;31844290;32157095;32938616;33592498;34185709;35051231;35580925;36010968;37454296;38253038;7688123;7911226;8144603;8408203;8522602;8863739;8972856;9020086;9020161;9030515;9136770;9323142;9590177;9632734;9733780", "class_list": "", "function": "DENND2B activates Rab35 at the intercellular bridge, regulating cytokinetic abscission and tetraploidy., [RefSeq, PubMed]; DENND2B interacts with the Rab13 effector MICAL-L2 at the cell periphery, and this interaction is required for the dynamic remodeling of the cell's leading edge., [RefSeq, PubMed]; Findings provide evidence of suppression of tumorigenicity 5 (ST5) involvement in positive regulation of osteoclastogenesis via src Kinases (Src)/Syk Kinase (Syk)/calcium signaling., [RefSeq, PubMed]; Guanine nucleotide exchange factor (GEF) which may activate RAB9A and RAB9B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form., [UniProtKB, PubMed]; Here, we discover that intersectin-s binds DENND2B, a guanine nucleotide exchange factor for the exocytic GTPase Rab13, and this interaction promotes recycling of ligand-free EGFR to the cell surface. Our study thus reveals a novel mechanism controlling the fate of internalized EGFR with important implications for cancer., [RefSeq, PubMed]; May be involved in cytoskeletal organization and tumorogenicity. Seems to be involved in a signaling transduction pathway leading to activation of MAPK1/ERK2. Plays a role in EGFR trafficking from recycling endosomes back to the cell membrane (PubMed:29030480)., [UniProtKB, PubMed, PubMed]; May block ERK2 activation stimulated by ABL1 (Probable). May alter cell morphology and cell growth (Probable)., [UniProtKB, PubMed, PubMed]; This gene was identified by its ability to suppress the tumorigenicity of Hela cells in nude mice. The protein encoded by this gene contains a C-terminal region that shares similarity with the Rab 3 family of small GTP binding proteins. This protein preferentially binds to the SH3 domain of c-Abl kinase, and acts as a regulator of MAPK1/ERK2 kinase, which may contribute to its ability to reduce the tumorigenic phenotype in cells. Three alternatively spliced transcript variants of this gene encoding distinct isoforms are identified. [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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 31, "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": "B2R6X7;B3KXQ6;P78523;Q16492;Q7KYY2;Q7KZ12;Q8NE12;Q9BQQ6", "ec_number_list": [], "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005938 cell cortex;GO:0055037 recycling endosome", "go_biological_process": "GO:0070374 positive regulation of ERK1 and ERK2 cascade", "synthesized_glycan_count": 0, "hit_score": 21.7, "record_id": "P78524-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P40225-1", "uniprot_id": [ { "id": "TPO_HUMAN", "url": "https://www.uniprot.org/uniprot/P40225", "type": "external" } ], "mass": 37823.0, "length": 353, "protein_name": "Thrombopoietin", "gene_name": "THPO", "organism": "Human", "refseq_name": "thrombopoietin isoform 4 precursor", "refseq_ac": [ { "id": "NP_001276926", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276926", "type": "external" } ], "gene_names_uniprotkb": "THPO; MGDF", "gene_names_refseq": "CAMT2; MGDF; MKCSF; ML; MPLLG; THC9; THCYT1; THPO; TPO", "protein_names_uniprotkb": "Thrombopoietin; C-mpl ligand; MGDF; ML; Megakaryocyte colony-stimulating factor; Megakaryocyte growth and development factor; Myeloproliferative leukemia virus oncogene ligand", "protein_names_refseq": "MPL ligand; c-mpl ligand; megakaryocyte colony-stimulating factor; megakaryocyte growth and development factor; megakaryocyte stimulating factor; myeloproliferative leukemia virus oncogene ligand; prepro-thrombopoietin; thrombopoietin isoform 4 precursor; thrombopoietin nirs", "tax_id": 9606, "disease": "congenital amegakaryocytic thrombocytopenia 2 (Disease Ontology:DOID:0061002); aplastic anemia (Disease Ontology:DOID:12449); toxic shock syndrome (Disease Ontology:DOID:14115); thrombocytopenia (Disease Ontology:DOID:1588); essential thrombocythemia (Disease Ontology:DOID:2224); thrombocytosis (Disease Ontology:DOID:2228); liver cirrhosis (Disease Ontology:DOID:5082); arteriosclerosis obliterans (Disease Ontology:DOID:5160); pulmonary hypertension (Disease Ontology:DOID:6432); thrombocytopenia 9 (MONDO:MONDO:0957572)", "pathway": " (hsa:7066); (R-HSA-76009)", "pathway_count": 2, "publication_count": 23, "publication_id_list": "10766842;11237011;12855811;14769915;16043461;18617523;24085763;28466964;28559357;29191945;32150607;36226497;37633268;37962621;7809166;7822271;7849319;7926023;8020099;8202154;8537317;8942648;9425899", "class_list": "", "function": "Hereditary thrombocythemia due to splicing donor site mutation of THPO in a Japanese family., [RefSeq, PubMed]; Lineage-specific cytokine affecting the proliferation and maturation of megakaryocytes from their committed progenitor cells. It acts at a late stage of megakaryocyte development. It may be the major physiological regulator of circulating platelets., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Megakaryocytopoiesis is the cellular development process that leads to platelet production. The main functional protein encoded by this gene is a humoral growth factor that is necessary for megakaryocyte proliferation and maturation, as well as for thrombopoiesis. This protein is the ligand for MLP/C_MPL, the product of myeloproliferative leukemia virus oncogene. Mutations in this gene are the cause of thrombocythemia 1. Alternative promoter usage and differential splicing result in multiple transcript variants differing in the 5' UTR and/or coding region. Multiple AUG codons upstream of the main open reading frame (ORF) have been identified, and these upstream AUGs inhibit translation of the main ORF at different extent. [provided by RefSeq, Feb 2014]., [RefSeq]; THPO transcription is cell line-dependently initiated at two alternative promoters, which we newly designated P1a and P1, [RefSeq, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 2, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 8, "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": 9, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 9, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 6, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 39, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 32, "disease_count": 10, "glyco_site_count": 16, "binding_glycan_count": 0, "secondary_ac_list": "A1L3Y0;B7ZLR8;B9EGA8;Q13020;Q15790;Q15791;Q15792", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005125 cytokine activity;GO:0005179 hormone activity;GO:0008083 growth factor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0030219 megakaryocyte differentiation;GO:0001934 positive regulation of protein phosphorylation;GO:0008283 cell population proliferation;GO:0008284 positive regulation of cell population proliferation;GO:0043410 positive regulation of MAPK cascade", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "P40225-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100100011000.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0R3-1", "uniprot_id": [ { "id": "TM222_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0R3", "type": "external" } ], "mass": 23230.0, "length": 208, "protein_name": "Transmembrane protein 222", "gene_name": "TMEM222", "organism": "Human", "refseq_name": "transmembrane protein 222", "refseq_ac": [ { "id": "NP_115501", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115501", "type": "external" } ], "gene_names_uniprotkb": "TMEM222; C1orf160", "gene_names_refseq": "C1orf160; NEDMOSBA; TMEM222", "protein_names_uniprotkb": "Transmembrane protein 222", "protein_names_refseq": "transmembrane protein 222", "tax_id": 9606, "disease": "neurodevelopmental disorder with motor and speech delay and behavioral abnormalities (MONDO:MONDO:0859176)", "pathway": " (hsa:84065)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "11230166;11237011;24715725;25892735;26992070;28218747;28228285;28904123;29314611;29769354;30315122;30573663;31020640;31217245;31844290;32157095;32161166;32357974;32387766;32938616;33141586;33298915;33592498;33824500;33912179;34171305;35051231;35561310;36010968", "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": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DPL6;Q53HD8;Q5FVE9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane;GO:0030425 dendrite", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q9H0R3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z7G0-1", "uniprot_id": [ { "id": "TARSH_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z7G0", "type": "external" } ], "mass": 117895.0, "length": 1068, "protein_name": "Target of Nesh-SH3", "gene_name": "ABI3BP", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ABI3BP; NESHBP; TARSH", "gene_names_refseq": "", "protein_names_uniprotkb": "Target of Nesh-SH3; ABI gene family member 3-binding protein; Nesh-binding protein; NeshBP; Tarsh", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:25890)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11501947;19159218;21081667;25645385;28493397;28832583;29242379;29391424;29632711;29741879;29789417;30429286;36284347;37074911", "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": 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 8768, "biomarker_type": "", "glycan_count": 64, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B3KSL4;Q6ZW20;Q6ZW22;Q9C082;Q9UFI6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031012 extracellular matrix", "go_biological_process": "GO:1904597 negative regulation of connective tissue replacement involved in inflammatory response wound healing;GO:0008285 negative regulation of cell population proliferation;GO:1905209 positive regulation of cardiocyte differentiation", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "Q7Z7G0-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TEA7-1", "uniprot_id": [ { "id": "TBCK_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TEA7", "type": "external" } ], "mass": 100679.0, "length": 893, "protein_name": "TBC domain-containing protein kinase-like protein", "gene_name": "TBCK", "organism": "Human", "refseq_name": "TBC domain-containing protein kinase-like protein isoform a", "refseq_ac": [ { "id": "NP_001156907", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001156907", "type": "external" } ], "gene_names_uniprotkb": "TBCK; FERRY1; HSPC302; TBCKL", "gene_names_refseq": "FERRY1; Fy-1; HSPC302; IHPRF3; TBCKL; TBCK", "protein_names_uniprotkb": "TBC domain-containing protein kinase-like protein; FERRY endosomal RAB5 effector complex subunit 1; Fy-1", "protein_names_refseq": "FERRY endosomal RAB5 effector complex subunit 1; TBC domain-containing protein kinase-like protein isoform a; TBC domain-containing protein kinase-like protein", "tax_id": 9606, "disease": "infantile hypotonia with psychomotor retardation and characteristic facies-3 (Disease Ontology:DOID:0060935)", "pathway": " (hsa:93627)", "pathway_count": 1, "publication_count": 64, "publication_id_list": "11237011;12471243;17344846;19077034;20332099;23481700;23977024;24576458;24715725;25418920;25558065;25645385;25892735;26154972;26992070;27040691;27040692;28218747;28228285;28514659;28832583;28834231;29242379;29437277;29557506;29632046;29769354;29786170;30315122;30379171;30410026;30429286;30524438;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33392160;33592498;33912179;33936100;33968037;33981976;34087483;34211107;34357683;34509645;34932366;35051231;35318648;36010968;36241641;36284347;37267905;37353954;37455236;37876076;39894887", "class_list": "", "function": "Component of the FERRY complex (Five-subunit Endosomal Rab5 and RNA/ribosome intermediary) (PubMed:37267905). The FERRY complex directly interacts with mRNAs and RAB5A, and functions as a RAB5A effector involved in the localization and the distribution of specific mRNAs most likely by mediating their endosomal transport. The complex recruits mRNAs and ribosomes to early endosomes through direct mRNA-interaction (PubMed:37267905). Also involved in the modulation of mTOR signaling and expression of mTOR complex components (PubMed:23977024, PubMed:27040691). Involved in the control of actin-cytoskeleton organization (PubMed:23977024)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Heterozygous variants in TBCK cause a mild neurologic syndrome in humans and mice., [RefSeq, PubMed]; Localization and function of TBCK, [RefSeq, PubMed]; Mutation Of TBC1 Domain Containing Kinase (TBCK) With Associated Intellectual Disability And Hypotonia., [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]; TBCK may play an important role in cell proliferation, cell growth and actin organization possibly by modulating mTOR pathway. Publication Status: Online-Only, [RefSeq, PubMed]; TBCK syndrome: a rare multi-organ neurodegenerative disease., [RefSeq, PubMed]; This gene encodes a protein that contains a protein kinase domain, a Rhodanase-like domain and the Tre-2/Bub2/Cdc16 (TBC) domain. The encoded protein is thought to play a role in actin organization, cell growth and cell proliferation by regulating the mammalian target of the rapamycin (mTOR) signaling pathway. This protein may also be involved in the transcriptional regulation of the components of the mTOR complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B9A6J1;Q4W5B3;Q4W5E1;Q6NUP4;Q8N7M8;Q8WW57;Q96GV6;Q9P080", "ec_number_list": [], "go_molecular_function": "GO:0004672 protein kinase activity;GO:0005096 GTPase activator activity;GO:0005524 ATP binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0030496 midbody;GO:0072686 mitotic spindle", "go_biological_process": "GO:0008283 cell population proliferation;GO:0030036 actin cytoskeleton organization;GO:0032006 regulation of TOR signaling;GO:1904580 regulation of intracellular mRNA localization", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q8TEA7-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2L8-1", "uniprot_id": [ { "id": "ZKSC5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2L8", "type": "external" } ], "mass": 96903.0, "length": 839, "protein_name": "Zinc finger protein with KRAB and SCAN domains 5", "gene_name": "ZKSCAN5", "organism": "Human", "refseq_name": "zinc finger protein with KRAB and SCAN domains 5 isoform a", "refseq_ac": [ { "id": "NP_001305011", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305011", "type": "external" } ], "gene_names_uniprotkb": "ZKSCAN5; KIAA1015; ZFP95", "gene_names_refseq": "ZFP-95; ZFP95; ZKSCAN5; ZNF914; ZSCAN37", "protein_names_uniprotkb": "Zinc finger protein with KRAB and SCAN domains 5; Zfp-95; Zinc finger protein 95 homolog", "protein_names_refseq": "zinc finger protein 95 homolog; zinc finger protein homologous to Zfp95 in mouse; zinc finger protein with KRAB and SCAN domains 5 isoform a; zinc finger protein with KRAB and SCAN domains 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:23660); (R-HSA-212436)", "pathway_count": 2, "publication_count": 53, "publication_id_list": "10235266;10330177;10585779;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;23186163;25505266;25576301;25880248;26992070;27600516;27846572;28228285;28832583;28834231;29242379;29493099;29508533;30315122;30397981;30429286;30484775;31154438;31217245;31844290;32157095;32357974;32938616;32983136;33592498;33691108;33912179;33968037;33981976;34561969;34932366;35051231;35580925;36010968;36241641;36284347;37938771;38018874;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; Shorter telomeres increase chronic obstructive pulmonary disease (COPD) risk and the zinc finger protein 95 homolog ZFP95 (ZNF208) polymorphism affects telomere length in COPD patients., [RefSeq, PubMed]; This gene encodes a zinc finger protein of the Kruppel family. The protein contains a SCAN box and a KRAB A domain and may be involved in transcriptional regulation. A similar protein in mouse is differentially expressed in spermatogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]., [RefSeq]; ZKSCAN5 activates LAPTM5 expression by recruiting SETD7 to promote metastasis in pancreatic ductal adenocarcinoma., [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": 26, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A4D280;D6W5S9", "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_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": "Q9Y2L8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P52657-1", "uniprot_id": [ { "id": "T2AG_HUMAN", "url": "https://www.uniprot.org/uniprot/P52657", "type": "external" } ], "mass": 12457.0, "length": 109, "protein_name": "Transcription initiation factor IIA subunit 2", "gene_name": "GTF2A2", "organism": "Human", "refseq_name": "transcription initiation factor IIA subunit 2", "refseq_ac": [ { "id": "NP_001307858", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307858", "type": "external" } ], "gene_names_uniprotkb": "GTF2A2; TF2A2", "gene_names_refseq": "GTF2A2; HsT18745; T18745; TF2A2; TFIIA-12; TFIIA-gamma; TFIIAS; TFIIA", "protein_names_uniprotkb": "Transcription initiation factor IIA subunit 2; General transcription factor IIA subunit 2; TFIIA p12 subunit; TFIIA-12; TFIIA-gamma; TFIIAS; Transcription initiation factor IIA gamma chain", "protein_names_refseq": "TFIIA gamma subunit; TFIIA p12 subunit; general transcription factor IIA 2; general transcription factor IIA, 2, 12kDa; transcription initiation factor IIA gamma chain; transcription initiation factor IIA subunit 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:2958); (R-HSA-167161); (R-HSA-167162); (R-HSA-167172); (R-HSA-674695); (R-HSA-6807505); (R-HSA-73776); (R-HSA-73779); (R-HSA-75953); (R-HSA-76042); (R-HSA-9018519)", "pathway_count": 11, "publication_count": 234, "publication_id_list": "10022900;10024882;10199401;10500157;10567404;10723029;10828826;10873660;11005381;11010967;11030333;11034064;11103799;11136970;11165043;11237011;11345900;11410592;11433015;11452016;11486021;11581164;11682626;11739720;11784853;11856838;11859374;11884399;12414730;12498683;12574128;12612073;12676794;12959972;1310361;14631847;14675539;14701755;15001666;15276198;15282324;15343269;15345050;1535687;15489290;15514030;15986123;16009131;16046058;16087863;16113099;16239144;1630819;16308568;16901896;16980581;17013392;17277772;1739980;17463000;17495528;17510434;17637753;17666587;17690249;18079403;18187655;18219272;18256232;1829677;18322535;18358809;18476782;18533032;18762174;18805503;19001364;19020303;19098913;19274700;19295514;19321454;19383337;1939271;19667075;19718048;20219941;20220130;20457598;20498280;20570965;20682797;21106759;21151129;2125285;21445275;21573489;2181374;21835891;21878914;21934649;21940756;22056668;22137580;22231121;22252320;22265404;22441827;22492511;22545144;22704330;23145106;23166507;23172872;23192763;23303788;23403292;23435229;23723241;23906331;23932780;24097444;24167369;24270878;24366607;24371278;2449431;24735615;24854081;24885040;24973012;24997600;24998469;25296600;25365482;25433557;25542856;25633194;25663755;25674852;25675981;25728767;26056233;26153859;26204489;26462610;26479350;26992070;27062924;27193682;27600516;27846572;27886276;27920218;28228285;28539435;28832583;28834231;2919170;29242379;2944599;29557506;29632046;30315122;30429286;3045126;31154438;31530632;31844290;31848261;32157095;32265295;32387766;32502341;3281094;32897882;32938616;32983136;33537174;33592498;33691108;33912179;33936100;33968037;34185709;34561969;3498214;35580925;36010968;3677090;7151173;7559524;7601352;7660122;7660129;7660130;7715707;7724559;7935485;7937828;7958899;7958900;8156590;8195246;8197458;8253082;8330735;8339931;8370526;8419924;8465201;8490964;8628262;8668525;8876171;8946909;9009278;9153304;9188510;9201922;9256425;9338790;9353262;9388265;9405375;9407024;9450929;9489704;9611253;9632777;9671459;9705341;9731700;9832505", "class_list": "", "function": "Accurate transcription initiation on TATA-containing class II genes involves the ordered assembly of RNA polymerase II (POLR2A; MIM 180660) and the general initiation factors TFIIA, TFIIB (MIM 189963), TFIID (MIM 313650), TFIIE (MIM 189962), TFIIF (MIM 189968), TFIIG/TFIIJ, and TFIIH (MIM 189972). The first step involves recognition of the TATA element by the TATA-binding subunit (TBP; MIM 600075) and may be regulated by TFIIA, a factor that interacts with both TBP and a TBP-associated factor (TAF; MIM 600475) in TFIID. TFIIA has 2 subunits (43 and 12 kD) in yeast and 3 subunits in higher eukaryotes. In HeLa extracts, it consists of a 35-kD alpha subunit and a 19-kD beta subunit encoded by the N- and C-terminal regions of GTF2A1 (MIM 600520), respectively, and a 12-kD gamma subunit encoded by GTF2A2 (DeJong et al., 1995 [PubMed 7724559]).[supplied by OMIM, Mar 2008]., [RefSeq]; TFIIA is a component of the transcription machinery of RNA polymerase II and plays an important role in transcriptional activation. TFIIA in a complex with TBP mediates transcriptional activity., [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": "A8MYQ7;Q6FGB5", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity;GO:0017025 TBP-class protein binding;GO:0061629 RNA polymerase II-specific DNA-binding transcription factor binding;GO:0016251 RNA polymerase II general transcription initiation factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005672 transcription factor TFIIA complex;GO:0005669 transcription factor TFIID 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:0006366 transcription by RNA polymerase II;GO:0006367 transcription initiation at RNA polymerase II promoter;GO:0051123 RNA polymerase II preinitiation complex assembly", "synthesized_glycan_count": 0, "hit_score": 23.5, "record_id": "P52657-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A5B9-1", "uniprot_id": [ { "id": "TRBC2_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A5B9", "type": "external" } ], "mass": 19968.0, "length": 178, "protein_name": "T cell receptor beta constant 2", "gene_name": "TRBC2", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRBC2; TCRBC2", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor beta constant 2", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 37, "publication_id_list": "11237011;15040585;16505140;20452950;20483993;20921281;21297580;21552205;22069376;22195564;22431638;23524462;24600447;24995984;25015819;25298532;25493333;26018083;26078271;26147596;26758806;26875526;26917722;27036003;27180909;27183386;27183389;27568928;29493099;29884618;32502341;32561536;36284347;3860845;8650574;8906788;9586631", "class_list": "", "function": "Constant region of T cell receptor (TR) beta chain (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn, ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A0A075B6S1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0042105 alpha-beta T cell receptor complex;GO:0042101 T cell receptor complex;GO:0012505 endomembrane system", "go_biological_process": "GO:0046631 alpha-beta T cell activation;GO:0050852 T cell receptor signaling pathway;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "A0A5B9-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NBJ7-1", "uniprot_id": [ { "id": "SUMF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NBJ7", "type": "external" } ], "mass": 33843.0, "length": 301, "protein_name": "Inactive C-alpha-formylglycine-generating enzyme 2", "gene_name": "SUMF2", "organism": "Human", "refseq_name": "inactive C-alpha-formylglycine-generating enzyme 2 isoform g", "refseq_ac": [ { "id": "NP_001139805", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139805", "type": "external" } ], "gene_names_uniprotkb": "SUMF2; PRO4500; PSEC0171", "gene_names_refseq": "SUMF2; pFGE", "protein_names_uniprotkb": "Inactive C-alpha-formylglycine-generating enzyme 2; Paralog of formylglycine-generating enzyme; Sulfatase-modifying factor 2; pFGE", "protein_names_refseq": "C-alpha-formyglycine-generating enzyme 2; C-alpha-formylglycine-generating enzyme 2; epididymis secretory sperm binding protein; inactive C-alpha-formylglycine-generating enzyme 2 isoform g; inactive C-alpha-formylglycine-generating enzyme 2; paralog of formylglycine-generating enzyme; paralog of the formylglycine-generating enzyme", "tax_id": 9606, "disease": "", "pathway": " (hsa:25870); (R-HSA-1663150); (R-HSA-9840310)", "pathway_count": 3, "publication_count": 158, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10191093;10196694;10406958;10781797;10823942;10861246;10942779;10993717;11237011;11350180;11489889;11707436;11784319;12374214;12510003;12518053;12566438;12594539;12662933;12757705;12757706;12885774;12888274;12909021;12975309;1352293;1352993;14563551;15003450;15213228;15458386;15657036;15687489;15708861;15714521;15773042;15845354;15962010;16229686;16230343;16303743;1634229;16368756;16478472;16517606;16595074;16698036;1670590;1678251;17105727;1718266;1720305;1740330;1756715;18266766;1840600;18524657;1889421;1907800;1915858;19405096;19836391;2001789;20728381;23481700;235289;23584533;239890;24190977;25418920;2562955;26154972;26811146;26992070;2717620;27862975;28126847;28218747;28228285;28397838;28510447;28832583;29242379;29314611;29351928;29393594;29437277;29443946;29508533;29557506;2960521;29632046;2965147;29692406;2970528;2971395;29741879;29747811;2976757;29786170;29802621;3014515;30315122;30410026;3048308;3136930;31495489;3158659;31844290;31848261;32350084;32488085;32502341;32897882;32938616;33392160;33592498;33968037;34357683;3456607;34725712;35138101;35251023;35317099;35580925;36284347;37074911;38665916;39940;40307207;40596516;5135907;5164093;527942;5822067;7504405;7628016;7730378;7744740;7852280;8281145;8370580;8399327;8573994;8591035;8663398;8681943;8804427;8889578;8955159;8985184;9217013;9338580;9520418;9521684;9699462", "class_list": "", "function": "Differential DNA methylation analysis of SUMF2, ADAMTS5, and PXDN provides novel insights into colorectal cancer prognosis prediction in Taiwan., [RefSeq, PubMed]; Lacks formylglycine generating activity and is unable to convert newly synthesized inactive sulfatases to their active form. Inhibits the activation of sulfatases by SUMF1., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; PFGE (SUMF2) is the paralog of the Calpha-formylglycine-generating enzyme, [RefSeq, PubMed]; The catalytic sites of sulfatases are only active if they contain a unique amino acid, C-alpha-formylglycine (FGly). The FGly residue is posttranslationally generated from a cysteine by enzymes with FGly-generating activity. The gene described in this record is a member of the sulfatase-modifying factor family and encodes a protein with a DUF323 domain that localizes to the lumen of the endoplasmic reticulum. This protein has low levels of FGly-generating activity but can heterodimerize with another family member - a protein with high levels of FGly-generating activity. 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": 3, "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": 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": 2, "reported_phosphosites": 0, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 20, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B4DU41;B4DWQ0;Q14DW5;Q53ZE3;Q96BH2;Q9BRN3;Q9BWI1;Q9Y405", "ec_number_list": [], "go_molecular_function": "GO:0004857 enzyme inhibitor activity;GO:0042802 identical protein binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0016020 membrane", "go_biological_process": "GO:0043687 post-translational protein modification;GO:0046479 glycosphingolipid catabolic process", "synthesized_glycan_count": 0, "hit_score": 18.7, "record_id": "Q8NBJ7-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P2P6-1", "uniprot_id": [ { "id": "STAR9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P2P6", "type": "external" } ], "mass": 516343.0, "length": 4700, "protein_name": "StAR-related lipid transfer protein 9", "gene_name": "STARD9", "organism": "Human", "refseq_name": "stAR-related lipid transfer protein 9", "refseq_ac": [ { "id": "NP_065810", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065810", "type": "external" } ], "gene_names_uniprotkb": "STARD9; KIAA1300", "gene_names_refseq": "KIF16A; STARD9", "protein_names_uniprotkb": "StAR-related lipid transfer protein 9; START domain-containing protein 9; StARD9", "protein_names_refseq": "START domain-containing protein 9; StAR-related lipid transfer (START) domain containing 9; stAR-related lipid transfer protein 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:57519)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "10.1101/2023.09.13.557529;11237011;16964419;22153075;22453275;25418920;25501367;25880248;28218747;28514659;28777490;28832583;28834231;28904123;29242379;29437277;29493099;29557506;30160609;30315122;30379171;31154438;31217245;31844290;32157095;32357974;32387766;33298915;33392160;33912179;35051231;35580925;36010968;36241641", "class_list": "", "function": "Analysis of 592 mitotic microtubule copurifying proteins by functional RNAi screens for mitotic arrest, checkpoint bypass, and induction of apoptosis resulted in identification of a kinesin, STARD9, with a critical role in cancer cell division., [RefSeq, PubMed]; Microtubule-dependent motor protein required for spindle pole assembly during mitosis. Required to stabilize the pericentriolar material (PCM)., [UniProtKB, PubMed]; STARD9 could be regulated by Plk1 and SCFbeta-TrCP to promote proper mitotic spindle assembly., [RefSeq, PubMed]; STARD9 frame shift mutation is associated with abnormal spindle morphology in Intellectual disability., [RefSeq, PubMed]; STARD9 regulates the assembly and stability of both interphase and spindle microtubules., [RefSeq, PubMed]", "predicted_glycosites": 5, "predicted_n_glycosites": 0, "predicted_o_glycosites": 5, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 76, "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": "Q68DG2;Q6AI01;Q6ZWK0;Q9UF70", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0008017 microtubule binding;GO:0008289 lipid binding;GO:0003777 microtubule motor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005814 centriole", "go_biological_process": "GO:0007018 microtubule-based movement;GO:0051225 spindle assembly", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q9P2P6-1", "record_type": "protein", "filter_code": "0000000.1100101.000100.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NC51-1", "uniprot_id": [ { "id": "T150B_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NC51", "type": "external" } ], "mass": 25701.0, "length": 233, "protein_name": "Modulator of macroautophagy TMEM150B", "gene_name": "TMEM150B", "organism": "Human", "refseq_name": "modulator of macroautophagy TMEM150B isoform a", "refseq_ac": [ { "id": "NP_001078957", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078957", "type": "external" } ], "gene_names_uniprotkb": "TMEM150B; TMEM224", "gene_names_refseq": "DRAM3; TMEM150B; TMEM224; TTN2", "protein_names_uniprotkb": "Modulator of macroautophagy TMEM150B; Protein DRAM-3; Transmembrane protein 150B; Transmembrane protein 224", "protein_names_refseq": "DRAM-Related/Associated Member 3; hCG1651476; modulator of macroautophagy TMEM150B isoform a; modulator of macroautophagy TMEM150B; protein DRAM-3; tentonin 2; transmembrane protein 224; transmembrane protein LOC284417", "tax_id": 9606, "disease": "", "pathway": " (hsa:284417)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;24715725;25608530;25929859;28005267;29557506;30704953;32983136;35580925", "class_list": "", "function": "Modulator of macroautophagy that causes accumulation of autophagosomes under basal conditions and enhances autophagic flux (PubMed:25929859). Represses cell death and promotes long-term clonogenic survival of cells grown in the absence of glucose in a macroautophagy-independent manner (PubMed:25929859). May have some role in extracellular matrix engulfment or growth factor receptor recycling, both of which can modulate cell survival (PubMed:25929859)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; TMEM150B expression is significantly upregulated in human masticatory mucosa during wound healing, [RefSeq, PubMed]; TMEM150B, renamed as DRAM-3, is a modulator of both macroautophagy and cell survival under starvation conditions. Erratum:[Cell Death Differ. 2017 Jun 30;(8):1470. PMID: 28665403], [RefSeq, PubMed]; The results suggest that the perturbations in the TMEM150B gene are not a common explanation for premature ovarian insufficiency in Chinese women., [RefSeq, PubMed]; This gene encodes a protein that belongs to the DRAM (damage-regulated autophagy modulator) family of membrane-spanning proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B7ZW71", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000421 autophagosome membrane;GO:0005886 plasma membrane;GO:0010008 endosome membrane", "go_biological_process": "GO:0006914 autophagy", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "A6NC51-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43776-1", "uniprot_id": [ { "id": "SYNC_HUMAN", "url": "https://www.uniprot.org/uniprot/O43776", "type": "external" } ], "mass": 62943.0, "length": 548, "protein_name": "Asparagine--tRNA ligase, cytoplasmic", "gene_name": "NARS1", "organism": "Human", "refseq_name": "asparagine--tRNA ligase, cytoplasmic", "refseq_ac": [ { "id": "NP_004530", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004530", "type": "external" } ], "gene_names_uniprotkb": "NARS1; NARS; NRS", "gene_names_refseq": "ASNRS; NARS1; NARS; NEDMILEG; NEDMILG", "protein_names_uniprotkb": "Asparagine--tRNA ligase, cytoplasmic; 6.1.1.22; AsnRS; Asparaginyl-tRNA synthetase 1; Asparaginyl-tRNA synthetase", "protein_names_refseq": "asparagine tRNA ligase 1, cytoplasmic; asparagine--tRNA ligase, cytoplasmic; asparaginyl-tRNA synthetase, cytoplasmic", "tax_id": 9606, "disease": "autosomal dominant distal hereditary motor neuronopathy (Disease Ontology:DOID:0111198); Charcot-Marie-Tooth disease (Disease Ontology:DOID:10595); neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (MONDO:MONDO:0030837); neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (MONDO:MONDO:0100348)", "pathway": " (hsa:4677); (R-HSA-379716)", "pathway_count": 2, "publication_count": 116, "publication_id_list": "11237011;11347887;11714285;11829477;11858721;12235211;12690580;1373391;14660560;14671330;16055448;16408927;16429158;16906134;1761529;17924679;18452278;18669648;19608861;19892738;20068231;22299025;23186163;23301498;23481700;24366607;24715725;25576301;25645385;25810538;25880248;26154972;26375851;26992070;27161446;27397612;27600516;27846572;28218747;28228285;28510447;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29632046;29786170;30171954;30315122;30410026;30429286;30524438;30779550;31154438;31222486;31530632;31844290;31848261;32119511;32157095;32161166;32350084;32387766;32488085;32502341;32738225;32788587;32897882;32938616;32983136;33123756;33141586;33214551;33298915;33392160;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34509645;34725712;34932366;35051231;35138101;35154160;35251023;35561310;35580925;36010968;36241641;37938771;38665916;4130389;6022858;656444;7118399;7654687;8052601;8078941;8188258;8428657;8449960;9278442;9421509;9431993;9801298;9973509", "class_list": "", "function": "Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Asparaginyl-tRNA synthetase is localized to the cytoplasm and belongs to the class II family of tRNA synthetases. The N-terminal domain represents the signature sequence for the eukaryotic asparaginyl-tRNA synthetases. [provided by RefSeq, Jul 2008]., [RefSeq]; Catalyzes the attachment of asparagine to tRNA(Asn) in a two-step reaction: asparagine is first activated by ATP to form Asn-AMP and then transferred to the acceptor end of tRNA(Asn) (PubMed:32738225, PubMed:32788587, PubMed:9421509). In addition to its essential role in protein synthesis, acts as a signaling molecule that induced migration of CCR3-expressing cells (PubMed:12235211, PubMed:30171954). Has an essential role in the development of the cerebral cortex, being required for proper proliferation of radial glial cells (PubMed:32788587)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly. Erratum:[Nat Commun. 2021 Feb 15;12(1):1192. doi: 10.1038/s41467-021-21448-1. PMID: 33589599] Publication Status: Online-Only, [RefSeq, PubMed]; Study shows that ERO1L and NARS expression level are up-regulated in primary lung adenocarcinoma and identifies them with a potential to promote tumor metastasis and growth of cancer cells., [RefSeq, PubMed]; The chemokine activity of UNE-N was significantly reduced by suppressing CCR3 expression with CCR3-targeting siRNA, and the loop3 region of UNE-N was shown to interact mainly with the extracellular domains of CCR3 in nuclear magnetic resonance perturbation experiments. Based on these results, evolutionarily acquired UNE-N elicits chemokine activities that would promote NRS-CCR3-mediated proinflammatory signaling in ILD., [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": 6, "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": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DG16;Q53GU6", "ec_number_list": [ { "id": "6.1.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.22", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0046983 protein dimerization activity;GO:0003676 nucleic acid binding;GO:0031728 CCR3 chemokine receptor binding;GO:0004816 asparagine-tRNA ligase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0016477 cell migration;GO:0021987 cerebral cortex development;GO:0006418 tRNA aminoacylation for protein translation;GO:0006421 asparaginyl-tRNA aminoacylation;GO:0006412 translation", "synthesized_glycan_count": 0, "hit_score": 11.9, "record_id": "O43776-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P246-1", "uniprot_id": [ { "id": "STIM2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P246", "type": "external" } ], "mass": 83971.0, "length": 746, "protein_name": "Stromal interaction molecule 2", "gene_name": "STIM2", "organism": "Human", "refseq_name": "stromal interaction molecule 2 isoform 3 precursor", "refseq_ac": [ { "id": "NP_001162588", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001162588", "type": "external" } ], "gene_names_uniprotkb": "STIM2; KIAA1482", "gene_names_refseq": "STIM2", "protein_names_uniprotkb": "Stromal interaction molecule 2", "protein_names_refseq": "stromal interaction molecule 2 isoform 3 precursor", "tax_id": 9606, "disease": "hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); dilated cardiomyopathy (Disease Ontology:DOID:12930); brain disease (Disease Ontology:DOID:936); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:57620)", "pathway_count": 1, "publication_count": 81, "publication_id_list": "11230166;11237011;11463338;16005298;16860747;17905723;18160041;18166150;18669648;19019825;198439;21217057;22464749;23186163;23359669;23481700;24275569;25418920;25576301;25645385;25880248;25896806;26033257;26154972;26992070;27600516;27846572;27862975;27920218;28218747;28228285;28832583;28834231;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30410026;30524438;30779550;30833945;31154438;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33717175;33912179;33968037;33981976;34171305;34211107;34357683;34509645;35022238;35051231;35251023;35318648;35580925;35818214;36010968;36284347;37938771;38234211", "class_list": "", "function": "Functional communication between IP3R and STIM2 at subthreshold stimuli is a critical checkpoint for initiation of SOCE., [RefSeq, PubMed]; Plays a role in mediating store-operated Ca(2+) entry (SOCE), a Ca(2+) influx following depletion of intracellular Ca(2+) stores. Functions as a highly sensitive Ca(2+) sensor in the endoplasmic reticulum which activates both store-operated and store-independent Ca(2+)-influx. Regulates basal cytosolic and endoplasmic reticulum Ca(2+) concentrations. Upon mild variations of the endoplasmic reticulum Ca(2+) concentration, translocates from the endoplasmic reticulum to the plasma membrane where it probably activates the Ca(2+) release-activated Ca(2+) (CRAC) channels ORAI1, ORAI2 and ORAI3. May inhibit STIM1-mediated Ca(2+) influx., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; STIM proteins function as Ca(2+) store sensors in the signaling pathway connecting Ca(2+) store depletion to Ca(2+) influx., [RefSeq, PubMed]; STIM2 is an inhibitor of store-operated channel (SOC) activation and plays a coordinated role with STIM1 in controlling SOC-mediated Ca(2+) entry signals., [RefSeq, PubMed]; STIM2 is involved in spatial learning and plays an important role in ischemic-induced neuronal cell death during brain hypoxia. The absence of STIM2 reduces life expectancy in mice by sudden death., [RefSeq, PubMed]; STIM2 is involved in the regulation of apoptosis and the cell cycle in normal and malignant monocytic cells., [RefSeq, PubMed]; STIM2 promotes the invasion and metastasis of breast cancer cells through the NFAT1/TGF-beta1 pathway. Publication Status: Online-Only, [RefSeq, PubMed]; STIM2beta does not by itself strongly bind Orai1, it is recruited to Orai1 channels by forming heterodimers with other STIM isoforms., [RefSeq, PubMed]; These results imply that the splice variant STIM2.1 is an additional player tuning Orai1 activation in vivo. GeneRIF: STIM2.1 cannot activate Orai1 due to splicing in residues within the channel-activating domain (CAD). STIM2.1 confers a calcium dependent dominant-negative function on both STIM1 and STIM2 (STIM2.2). Affinity of the STIM2.1 calmodulin binding site within the CAD domain is increased compared to STIM2.2. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the stromal interaction molecule (STIM) family and likely arose, along with related family member STIM1, from a common ancestral gene. The encoded protein functions to regulate calcium concentrations in the cytosol and endoplasmic reticulum, and is involved in the activation of plasma membrane Orai Ca(2+) entry channels. This gene initiates translation from a non-AUG (UUG) start site. A signal peptide is cleaved from the resulting protein. Multiple transcript variants result from alternative splicing. [provided by RefSeq, Dec 2009]., [RefSeq]; Translation initiation from a non-AUG (UUG) start site., [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": 9, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 20, "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": "A6H8L7;B7ZVY0;Q96BF1;Q9BQH2;Q9H8R1", "ec_number_list": [], "go_molecular_function": "GO:0005246 calcium channel regulator activity;GO:0005509 calcium ion binding;GO:0015279 store-operated calcium channel activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane;GO:0012505 endomembrane system;GO:0016020 membrane", "go_biological_process": "GO:0006874 intracellular calcium ion homeostasis;GO:0051928 positive regulation of calcium ion transport;GO:0032237 activation of store-operated calcium channel activity;GO:0002115 store-operated calcium entry;GO:0006816 calcium ion transport", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "Q9P246-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H6P5-1", "uniprot_id": [ { "id": "TASP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H6P5", "type": "external" } ], "mass": 44455.0, "length": 420, "protein_name": "Threonine aspartase 1", "gene_name": "TASP1", "organism": "Human", "refseq_name": "threonine aspartase 1 isoform 1 precursor", "refseq_ac": [ { "id": "NP_060184", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060184", "type": "external" } ], "gene_names_uniprotkb": "TASP1; C20orf13", "gene_names_refseq": "C20orf13; SULEHS; TASP1; dJ585I14.2", "protein_names_uniprotkb": "Threonine aspartase 1; 3.4.25.-; Taspase-1", "protein_names_refseq": "threonine aspartase 1 isoform 1 precursor; threonine aspartase 1", "tax_id": 9606, "disease": "Suleiman-El-Hattab syndrome (MONDO:MONDO:0033532)", "pathway": " (hsa:55617); (R-HSA-9772755)", "pathway_count": 2, "publication_count": 88, "publication_id_list": "11237011;12393701;12482972;12670868;14636557;14992727;15199122;16216576;16227571;16239140;16537915;16829959;16878130;16892064;17355966;17500065;17612494;17671196;17925232;17998332;18598942;18829457;18829459;18838386;18838538;19103755;19124460;19187761;19556245;20018852;20575550;20716525;20961854;21106533;21124902;21131905;21135039;21220120;22266653;22299025;22327296;22570686;22652693;22665483;23508102;23995757;24244196;24368734;24680668;25561738;25593305;26324722;26375851;26886794;27563068;27698142;27760318;27846572;28182322;28398509;28832583;29138278;29508533;29557506;29897600;29937342;31209944;31400120;31485071;31544921;32071545;32387766;32938616;33657400;33717175;33784495;34012049;34012990;34087483;34171305;34197029;34933446;35033534;35051231;35190547;35439434;36766705;39894887", "class_list": "", "function": "Protease responsible for KMT2A/MLL1 processing and activation (PubMed:14636557). It also activates KMT2D/MLL2 (By similarity). Through substrate activation, it controls the expression of HOXA genes, and the expression of key cell cycle regulators including CCNA1, CCNB1, CCNE1 and CDKN2A (By similarity) (PubMed:14636557)., [UniProtKB, UniProtKB, PubMed]; Purification and cloning of threonine aspartase 1 responsible for cleaving MLL; RNAi-mediated knockdown of Taspase1 results in the appearance of unprocessed MLL and the loss of proper HOX gene expression, [RefSeq, PubMed]; Silencing of circTASP1 inhibits proliferation and induces apoptosis of acute myeloid leukaemia cells through modulating miR-515-5p/HMGA2 axis., [RefSeq, PubMed]; Structural insights into the function of the catalytically active human Taspase1., [RefSeq, PubMed]; TASP1 Promotes Gallbladder Cancer Cell Proliferation and Metastasis by Up-regulating FAM49B via PI3K/AKT Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; TASP1 Promotes Proliferation and Migration in Gastric Cancer via EMT and AKT/P-AKT Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Taspase1 Facilitates Topoisomerase IIbeta-Mediated DNA Double-Strand Breaks Driving Estrogen-Induced Transcription. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an endopeptidase that cleaves specific substrates following aspartate residues. The encoded protein undergoes posttranslational autoproteolytic processing to generate alpha and beta subunits, which reassemble into the active alpha2-beta2 heterotetramer. It is required to cleave MLL, a protein required for the maintenance of HOX gene expression, and TFIIA, a basal transcription factor. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]; Transfected taspase 1 enhances cleavage of TFIIA, and RNA interference knockdown of endogenous taspase 1 diminishes cleavage of TFIIA 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7Z690;B7Z963;Q5TDU9;Q9BQN0;Q9NQ08;Q9NTS6;Q9NXJ2", "ec_number_list": [ { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "2.1.1.364", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.364", "type": "external" }, { "id": "3.4.25.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.-", "type": "external" } ], "go_molecular_function": "GO:0042802 identical protein binding;GO:0004298 threonine-type endopeptidase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006508 proteolysis;GO:0045893 positive regulation of DNA-templated transcription;GO:0051604 protein maturation", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "Q9H6P5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62380-1", "uniprot_id": [ { "id": "TBPL1_HUMAN", "url": "https://www.uniprot.org/uniprot/P62380", "type": "external" } ], "mass": 20887.0, "length": 186, "protein_name": "TATA box-binding protein-like 1", "gene_name": "TBPL1", "organism": "Human", "refseq_name": "TATA box-binding protein-like 1", "refseq_ac": [ { "id": "NP_001240605", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240605", "type": "external" } ], "gene_names_uniprotkb": "TBPL1; TLF; TLP21; TLP; TRF2; TRP", "gene_names_refseq": "MGC:8389; MGC:9620; STUD; TBPL1; TLF; TLP; TRF2", "protein_names_uniprotkb": "TATA box-binding protein-like 1; 21 kDa TBP-like protein; STUD; Second TBP of unique DNA protein; TATA box-binding protein-related factor 2; TBP-like 1; TBP-like factor; TBP-related factor 2; TBP-related protein", "protein_names_refseq": "21-kDA TBP-like protein; TATA box-binding protein-like 1; TATA box-binding protein-like protein 1; TATA box-binding protein-related factor 2; TBP-like 1; TBP-related factor 2; TBP-related protein; second TBP of unique DNA protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:9519)", "pathway_count": 1, "publication_count": 40, "publication_id_list": "10082669;10220372;11237011;15767669;17570761;19369647;24958592;25418920;26811146;26992070;27543614;27600516;27846572;28063628;28228285;28832583;29242379;29393594;29557506;29632046;30315122;30524438;30779550;31154438;31844290;31848261;32157095;32265295;32357974;32387766;32488085;32938616;32983136;33392160;34087483;34171305;34509645;34932366;36010968;37938771", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Part of a specialized transcription system that mediates the transcription of most ribosomal proteins through the 5'-TCT-3' motif which is a core promoter element at these genes. Seems to also mediate the transcription of NF1. Does not bind the TATA box., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; This gene encodes a member of the TATA box-binding protein family. TATA box-binding proteins play a critical role in transcription by RNA polymerase II as components of the transcription factor IID (TFIID) complex. The encoded protein does not bind to the TATA box and initiates transcription from TATA-less promoters. This gene plays a critical role in spermatogenesis, and single nucleotide polymorphisms in this gene may be associated with male infertility. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 3. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A8K8F5;O95753;Q9BWD5;Q9Z2Z0", "ec_number_list": [], "go_molecular_function": "GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding;GO:0016251 RNA polymerase II general transcription initiation factor activity;GO:0140223 general transcription initiation factor activity;GO:0003677 DNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005672 transcription factor TFIIA complex", "go_biological_process": "GO:0006366 transcription by RNA polymerase II;GO:0006352 DNA-templated transcription initiation", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "P62380-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75157-1", "uniprot_id": [ { "id": "T22D2_HUMAN", "url": "https://www.uniprot.org/uniprot/O75157", "type": "external" } ], "mass": 79228.0, "length": 780, "protein_name": "TSC22 domain family protein 2", "gene_name": "TSC22D2", "organism": "Human", "refseq_name": "TSC22 domain family protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001290193", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290193", "type": "external" } ], "gene_names_uniprotkb": "TSC22D2; KIAA0669; TILZ4", "gene_names_refseq": "TILZ4a; TILZ4b; TILZ4c; TSC22D2", "protein_names_uniprotkb": "TSC22 domain family protein 2; TSC22-related-inducible leucine zipper protein 4", "protein_names_refseq": "TSC22 domain family 2; TSC22 domain family protein 2 isoform 2; TSC22 domain family protein 2; TSC22-related-inducible leucine zipper protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:9819)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "11237011;18669648;19413330;20149264;22510880;23301498;24715725;25576301;27337956;27397612;27573352;28228285;28832583;29242379;29351928;29557506;30429286;30779550;31092671;31125406;31154438;31844290;31848261;32157095;32161166;32387766;32938616;33214551;33592498;33912179;33968037;33981976;34019948;34509645;34725712;35051231;35132862;35580925;36010968;38665916;39531497;39534244", "class_list": "", "function": "Genome-wide linkage analysis and whole-exome sequencing in a rare, large multi-cancer pedigree recently found in China identified a novel mutant of transforming growth factor beta stimulated clone 22 domain family, member 2 (TSC22D2, c.-91T-C) cosegregated with the cancer phenotype. Study found that histone H4 transcription factor (HINFP) binds to the promoter region of TSC22D2 and may regulate its transcription., [RefSeq, PubMed]; Long form of TSC22DF is evolutionarily conserved and has growth-regulating potential., [RefSeq, PubMed]; Reduces the level of nuclear PKM isoform M2 which results in repression of cyclin CCND1 transcription and reduced cell growth., [UniProtKB, PubMed]; Results found TSC22D2 significantly downregulated in colorectal cancer (CRC). Its overexpression can inhibit CRC cell growth. Also, TSC22D2 physically associates with PKM2, and demonstrated that TSC22D2 overexpression reduces nuclear PKM2 levels and represses the expression of cyclin D1., [RefSeq, PubMed]; TSC22D2 protein might be a member of the PRMT5 complex via direct binding of WDR77., [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": 14, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 14, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 14, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "D3DNI5;Q6PI50;Q9H2Z6;Q9H2Z7;Q9H2Z8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0045786 negative regulation of cell cycle", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "O75157-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q17R31-1", "uniprot_id": [ { "id": "TATD3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q17R31", "type": "external" } ], "mass": 30333.0, "length": 274, "protein_name": "Deoxyribonuclease TATDN3", "gene_name": "TATDN3", "organism": "Human", "refseq_name": "deoxyribonuclease TATDN3 isoform 1", "refseq_ac": [ { "id": "NP_001036017", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036017", "type": "external" } ], "gene_names_uniprotkb": "TATDN3", "gene_names_refseq": "TATDN3", "protein_names_uniprotkb": "Deoxyribonuclease TATDN3; 3.1.11.-; 3.1.21.-; DNA-(apurinic or apyrimidinic site) endonuclease TATDN3; TatD DNase domain containing 3", "protein_names_refseq": "DNA-(apurinic or apyrimidinic site) endonuclease TATDN3; deoxyribonuclease TATDN3 isoform 1; putative deoxyribonuclease TATDN3", "tax_id": 9606, "disease": "", "pathway": " (hsa:128387)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "11237011;20877624;23481700;25576301;26154972;26375851;26992070;27600516;27846572;27920218;28832583;28834231;28855257;28904123;29242379;29393594;29557506;29632711;29789417;30315122;30410026;30429286;30484775;30524438;31092671;31217245;31844290;32157095;32357974;32938616;32983136;33592498;33912179;33968037;34171305;35051231;35580925;36881763;37938771", "class_list": "", "function": "Exhibits 3'-exonuclease and apurinic/apyrimidinic (AP) endonuclease activities (in vitro). Show preferential AP endonuclease activity on double-stranded DNA substrates and 3'- exonuclease activity on single-stranded DNA., [UniProtKB, PubMed]; Human and bacterial TatD enzymes exhibit apurinic/apyrimidinic (AP) endonuclease activity., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NGS3;B7Z1C1;B7Z978;B7ZLQ6;E9PJE5;E9PNH3;G3V151;Q4G0L1", "ec_number_list": [], "go_molecular_function": "GO:0008310 single-stranded DNA 3'-5' DNA exonuclease activity;GO:0046872 metal ion binding;GO:0003906 DNA-(apurinic or apyrimidinic site) endonuclease activity;GO:0016788 hydrolase activity, acting on ester bonds", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q17R31-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WUA7-1", "uniprot_id": [ { "id": "TB22A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WUA7", "type": "external" } ], "mass": 59121.0, "length": 517, "protein_name": "TBC1 domain family member 22A", "gene_name": "TBC1D22A", "organism": "Human", "refseq_name": "TBC1 domain family member 22A isoform b", "refseq_ac": [ { "id": "NP_001271232", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001271232", "type": "external" } ], "gene_names_uniprotkb": "TBC1D22A; C22orf4", "gene_names_refseq": "C22orf4; HSC79E021; TBC1D22A", "protein_names_uniprotkb": "TBC1 domain family member 22A", "protein_names_refseq": "TBC1 domain family member 22A isoform b; putative GTPase activator", "tax_id": 9606, "disease": "", "pathway": " (hsa:25771)", "pathway_count": 1, "publication_count": 67, "publication_id_list": "11237011;17081983;18186464;18477386;18669648;19077034;19651622;20068231;20230923;23481700;23526746;23572552;24275569;24715725;25576301;25880248;26154972;26375851;26811146;26992070;27846572;27862975;27869121;27920218;28218747;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29632711;29786170;30379171;30429286;30779550;31154438;31217245;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32357974;32387766;32502341;32897882;32983136;33141586;33298915;33592498;33912179;33936100;33968037;34211107;34357683;34932366;35051231;35561310;35580925;36010968;36284347;37938771", "class_list": "", "function": "Crystal structures of the first two mammalian TBCs, human TBC1 family members 22A (TBC1D22A) and 14 (TBC1D14), [RefSeq, PubMed]; Genetic association studies in population in Han Chinese: Data suggest that SNPs in TBC1D22A (rs7755450 and rs11758293) are associated with body mass index in obese females; other SNPs in TBC1D22A are associated with body mass index in obese males., [RefSeq, PubMed]; May act as a GTPase-activating protein for Rab family protein(s)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Using affinity purification-mass spectrometry, we identified the putative Rab33 GTPase-activating proteins TBC1D22A and TBC1D22B as ACBD3-interacting factors. 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": 15, "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": "B0QYI2;B0QYI3;B9A6M3;Q5TE47;Q6ZUH2;Q92680;Q9BVD6;Q9UGG0;Q9UGT2;Q9UGU6;Q9UH25;Q9Y4W5", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0042803 protein homodimerization activity;GO:0071889 14-3-3 protein binding", "go_cellular_component": "GO:0005794 Golgi apparatus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "Q8WUA7-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6PID6-1", "uniprot_id": [ { "id": "TTC33_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6PID6", "type": "external" } ], "mass": 29411.0, "length": 262, "protein_name": "Tetratricopeptide repeat protein 33", "gene_name": "TTC33", "organism": "Human", "refseq_name": "tetratricopeptide repeat protein 33", "refseq_ac": [ { "id": "NP_036514", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036514", "type": "external" } ], "gene_names_uniprotkb": "TTC33", "gene_names_refseq": "OSRF; TTC33", "protein_names_uniprotkb": "Tetratricopeptide repeat protein 33; Osmosis-responsive factor; TPR repeat protein 33", "protein_names_refseq": "TPR repeat protein 33; osmosis responsive factor; tetratricopeptide repeat protein 33", "tax_id": 9606, "disease": "", "pathway": " (hsa:23548)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "11237011;17081983;18452278;18669648;18767875;19413330;19651622;19690332;20068231;20166139;21406692;23186163;23301498;24275569;25505266;25576301;26154972;26375851;26992070;28218747;28832583;28904123;29242379;29393594;29437277;29508533;29557506;29786170;30410026;30429286;30779550;31154438;31844290;32157095;32387766;32488085;32897882;32938616;32983136;33298915;33592498;33968037;33981976;34171305;34509645;35318648;35580925;36010968;37217939", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B2R6G0;O95105", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q6PID6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TB96-1", "uniprot_id": [ { "id": "TIP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TB96", "type": "external" } ], "mass": 68108.0, "length": 612, "protein_name": "T-cell immunomodulatory protein", "gene_name": "ITFG1", "organism": "Human", "refseq_name": "T-cell immunomodulatory protein isoform 2", "refseq_ac": [ { "id": "NP_001291931", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291931", "type": "external" } ], "gene_names_uniprotkb": "ITFG1; CDA08; LNKN-1; TIP", "gene_names_refseq": "2310047C21Rik; CDA08; ITFG1; LINKIN; LNKN-1; TIP", "protein_names_uniprotkb": "T-cell immunomodulatory protein; Integrin-alpha FG-GAP repeat-containing protein 1; Linkin; Protein TIP", "protein_names_refseq": "T-cell immunomodulatory protein isoform 2; T-cell immunomodulatory protein; integrin-alpha FG-GAP repeat-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:81533)", "pathway_count": 1, "publication_count": 62, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12598909;19159218;20112406;22898188;25418920;25437307;25645385;25892735;26154972;26811146;26992070;27600516;27846572;27893789;27920218;28218747;28228285;28341484;28649982;28832583;28904123;29242379;29314611;29393594;29437277;29557506;29632046;29741879;29769354;30315122;30524438;30779550;31154438;31844290;32157095;32265295;32350084;32357974;32387766;32502341;32938616;32983136;33592498;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34357683;35051231;35154160;35251023;36010968;36215666;37074911;37340703;37938771", "class_list": "", "function": "Modulator of T-cell function. Has a protective effect in graft versus host disease model (By similarity)., [UniProtKB]; The interaction between RUVBL1 and ITFG1 is required for breast cancer cell collective invasion and progression., [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": 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": 6, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 40, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 9, "disease_count": 0, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "Q96SR4;Q9BRE2;Q9H2V9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q8TB96-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H5L6-1", "uniprot_id": [ { "id": "THAP9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H5L6", "type": "external" } ], "mass": 103411.0, "length": 903, "protein_name": "DNA transposase THAP9", "gene_name": "THAP9", "organism": "Human", "refseq_name": "DNA transposase THAP9 isoform 1", "refseq_ac": [ { "id": "NP_078948", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078948", "type": "external" } ], "gene_names_uniprotkb": "THAP9", "gene_names_refseq": "THAP9; hTh9", "protein_names_uniprotkb": "DNA transposase THAP9; 2.7.7.-; THAP domain-containing protein 9; hTh9", "protein_names_refseq": "DNA transposase THAP9 isoform 1; DNA transposase THAP9; THAP domain-containing protein 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:79725)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "11237011;15616143;20010837;23349291;25576301;26992070;28904123;29437277;30379171;31844290;32357974;32387766;32938616;33091337;33298915;33592498;33854048;33912179;33968037;34033475;34072453;34509645;34691358;35051231", "class_list": "", "function": "Active transposase that specifically recognizes the bipartite 5'-TXXGGGX(A/T)-3' consensus motif and mediates transposition., [UniProtKB, PubMed, PubMed]; DNA-binding transcription regulator that regulates endothelial cell proliferation and G1/S cell-cycle progression. Specifically binds the 5'-[AT]NTNN[GT]GGCA[AGT]-3' core DNA sequence and acts by modulating expression of pRB-E2F cell-cycle target genes., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Oligomerization of THAP9 Transposase via Amino-Terminal Domains., [RefSeq, PubMed]; Results indicate that human THAP9 is an active DNA transposase that, although 'domesticated,' still retains the catalytic activity to mobilize P transposable elements across species, [RefSeq, PubMed]; THAP9 Transposase Cleaves DNA via Conserved Acidic Residues in an RNaseH-Like Domain. Publication Status: Online-Only, [RefSeq, PubMed]; THAP9-AS1 Promotes Tumorigenesis and Reduces ROS Generation through the JAK2/STAT3 Signaling Pathway by Increasing SOCS3 Promoter Methylation in Osteosarcoma. Publication Status: Online-Only, [RefSeq, PubMed]; THAP9-AS1/miR-133b/SOX4 positive feedback loop facilitates the progression of esophageal squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B3KRE2;Q59AC9", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0016740 transferase activity;GO:0043565 sequence-specific DNA binding;GO:0004803 transposase activity", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "GO:0006310 DNA recombination;GO:0015074 DNA integration;GO:0006313 DNA transposition;GO:0006351 DNA-templated transcription;GO:0001935 endothelial cell proliferation", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q9H5L6-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3YBR2-1", "uniprot_id": [ { "id": "TBRG1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3YBR2", "type": "external" } ], "mass": 44946.0, "length": 411, "protein_name": "Transforming growth factor beta regulator 1", "gene_name": "TBRG1", "organism": "Human", "refseq_name": "transforming growth factor beta regulator 1", "refseq_ac": [ { "id": "NP_116200", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_116200", "type": "external" } ], "gene_names_uniprotkb": "TBRG1; NIAM", "gene_names_refseq": "NIAM; TB-5; TBRG1", "protein_names_uniprotkb": "Transforming growth factor beta regulator 1; Nuclear interactor of ARF and Mdm2", "protein_names_refseq": "nuclear interactor of ARF and MDM2; transforming growth factor beta regulator 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:84897)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "11237011;16582619;17110379;18582208;20068231;20506279;22424782;23186163;24621507;26497687;27846572;28832583;28904123;29242379;29393594;30315122;32357974;32938616;33298915;33592498;33968037;35051231;35254053;40596516", "class_list": "", "function": "Acts as a growth inhibitor. Can activate p53/TP53, causes G1 arrest and collaborates with CDKN2A to restrict proliferation, but does not require either protein to inhibit DNA synthesis. Redistributes CDKN2A into the nucleoplasm. Involved in maintaining chromosomal stability., [UniProtKB, PubMed]; In primary B-cell lymphoma NIAM-positive cases have significant lower levels of miR-155 as compared to NIAM-negative cases, suggesting that NIAM is regulated by miR-155 in primary B-cell lymphoma., [RefSeq, PubMed]; NIAM is a nuclear interactor of ARF and Mdm2, [RefSeq, PubMed]; NIAM regulates 2 critical pathways that control p53 function and are altered in human cancers, implying an important role for NIAM in tumorigenesis., [RefSeq, PubMed]; Novel protein with tumor suppressor-like behaviors and functional links to ARF-MDM2-p53 signaling, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 2, "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": "Q53GJ5;Q66ZJ6;Q69YS7;Q8TCS4;Q8TEI4;Q96SV0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:1990173 protein localization to nucleoplasm;GO:0008285 negative regulation of cell population proliferation;GO:0006260 DNA replication;GO:0050821 protein stabilization;GO:0051726 regulation of cell cycle", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q3YBR2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P20062-1", "uniprot_id": [ { "id": "TCO2_HUMAN", "url": "https://www.uniprot.org/uniprot/P20062", "type": "external" } ], "mass": 47535.0, "length": 427, "protein_name": "Transcobalamin-2", "gene_name": "TCN2", "organism": "Human", "refseq_name": "transcobalamin-2 isoform 1 precursor", "refseq_ac": [ { "id": "NP_000346", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000346", "type": "external" } ], "gene_names_uniprotkb": "TCN2; TC2", "gene_names_refseq": "D22S676; D22S750; II; TC II; TC-2; TC2; TCII; TCN2; TC", "protein_names_uniprotkb": "Transcobalamin-2; TC II; TC-2; TCII; Transcobalamin II", "protein_names_refseq": "macrocytic anemia; transcobalamin II; transcobalamin-2 isoform 1 precursor; vitamin B12-binding protein 2", "tax_id": 9606, "disease": "vitamin B12 deficiency (Disease Ontology:DOID:0050731); transcobalamin II deficiency (Disease Ontology:DOID:0050818); megaloblastic anemia (Disease Ontology:DOID:13382); Parkinson's disease (Disease Ontology:DOID:14330); cryoglobulinemia (Disease Ontology:DOID:2917); acute myeloid leukemia (Disease Ontology:DOID:9119); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:6948); (R-HSA-3359454); (R-HSA-3359485); (R-HSA-9758890)", "pathway_count": 4, "publication_count": 76, "publication_id_list": "11159542;11237011;12091374;12707225;14528014;14632784;15652495;16537422;17074750;1708393;18477386;18779389;19136951;19373259;20524213;21081667;21511966;22547309;22922874;23836931;23846701;25418920;25502872;25576301;25645385;26154972;26811146;26992070;27411955;27456980;27726376;2777761;27920218;28467828;29242379;29557506;29632711;29769354;29786170;29789417;30315122;31844290;31848261;32157095;32265295;32350084;32841161;32983136;33023511;33592498;33803025;33845046;33912179;33968037;34027569;34211107;34357683;34433824;34932366;35051231;35154160;35251023;35580925;37800653;3782074;38881906;39313785;4001945;759210;7742531;7768901;8439564;8443384;8706697;8710919;915005", "class_list": "", "function": "'Progressive myoclonic ataxia and developmental/epileptic encephalopathy associated with a novel homozygous mutation in TCN2 gene'., [RefSeq, PubMed]; Folate metabolizing gene polymorphisms and genetic vulnerability to preterm birth in Korean women., [RefSeq, PubMed]; Innovative biomarkers TCN2 and LY6E can significantly inhibit respiratory syncytial virus infection. Publication Status: Online-Only, [RefSeq, PubMed]; Intracellular and Tissue Levels of Vitamin B12 in Hepatocytes Are Modulated by CD320 Receptor and TCN2 Transporter. Publication Status: Online-Only, [RefSeq, PubMed]; Primary vitamin B12-binding and transport protein. Delivers cobalamin to cells., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed]; This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This plasma protein binds cobalamin and mediates the transport of cobalamin into cells. This protein and other mammalian cobalamin-binding proteins, such as transcobalamin I and gastric intrisic factor, may have evolved by duplication of a common ancestral gene. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]., [RefSeq]; Transcobalamin 2 orchestrates monocyte proliferation and TLR4-driven inflammation in systemic lupus erythematosus via folate one-carbon 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "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": "Q96FD4;Q9BVI8;Q9UCI5;Q9UCI6;Q9UDM0", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0031419 cobalamin binding;GO:0140355 cargo receptor ligand activity;GO:0140104 molecular carrier activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane;GO:0043202 lysosomal lumen", "go_biological_process": "GO:0015889 cobalamin transport;GO:0006824 cobalt ion transport", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "P20062-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NRA0-1", "uniprot_id": [ { "id": "SPHK2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NRA0", "type": "external" } ], "mass": 69217.0, "length": 654, "protein_name": "Sphingosine kinase 2", "gene_name": "SPHK2", "organism": "Human", "refseq_name": "sphingosine kinase 2 isoform b", "refseq_ac": [ { "id": "NP_001191087", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191087", "type": "external" } ], "gene_names_uniprotkb": "SPHK2; SK2", "gene_names_refseq": "SK 2; SK-2; SPHK2; SPK 2; SPK-2", "protein_names_uniprotkb": "Sphingosine kinase 2; 2.7.1.91; SK 2; SPK 2", "protein_names_refseq": "sphingosine kinase 2 isoform b", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:56848); (R-HSA-1660661)", "pathway_count": 2, "publication_count": 115, "publication_id_list": "10722674;10751414;10802064;10947957;11230166;11237011;11937514;12954646;14596938;14685229;14685263;14976195;15063729;15328338;15337768;15951439;16100120;16103110;16118219;16571669;16793762;16895911;17023427;17050692;17311928;17331073;17355976;17449912;17591919;17635916;17897319;17982138;18165232;18165233;18184806;18263879;18669648;18691976;19005213;19168031;19233134;19416851;19506037;19729656;20061445;20110355;20182505;20197547;20959514;21307639;21620961;22517924;22970244;23180825;23186163;23481700;23602659;23754960;24275569;24569996;24782409;25418920;25576301;25788259;27920218;28218747;28575652;28832583;28834231;28904123;29242379;29437277;29508533;29563527;29615132;30315122;30524438;31217245;31844290;31895563;32157095;32350084;32357974;32488085;32502341;32897882;32938616;33141586;33298915;33392160;33592498;33912179;33936100;33968037;33981976;34087483;34932366;35051231;35409383;35580925;36010968;36241641;36902339;36907437;37224812;37390971;37898377;38048970;38487884;38925249;4339164;4817756;9188692;9312549;9363775", "class_list": "glycogene", "function": "Accumulation of sphingosine kinase 2 protein induces malignant transformation in oral keratinocytes associated with stemness, autophagy, senescence, and proliferation., [RefSeq, PubMed]; Although both sphingosine kinase type 1 (SphK1) and type 2 (SphK2) can phosphorylate FTY720 with low efficiency, SphK2 is much more effective than SphK1, [RefSeq, PubMed]; Catalyzes the phosphorylation of sphingosine to form sphingosine-1-phosphate (SPP), a lipid mediator with both intra- and extracellular functions. Also acts on D-erythro-dihydrosphingosine, D-erythro-sphingosine and L-threo-dihydrosphingosine. Binds phosphoinositides (PubMed:12954646, PubMed:19168031). In contrast to prosurvival SPHK1, has a positive effect on intracellular ceramide levels, inhibits cells growth and enhances apoptosis (PubMed:16118219). In mitochondria, is important for cytochrome-c oxidase assembly and mitochondrial respiration. The SPP produced in mitochondria binds PHB2 and modulates the regulation via PHB2 of complex IV assembly and respiration (PubMed:20959514). In nucleus, plays a role in epigenetic regulation of gene expression. Interacts with HDAC1 and HDAC2 and, through SPP production, inhibits their enzymatic activity, preventing the removal of acetyl groups from lysine residues with histones. Up-regulates acetylation of histone H3-K9, histone H4-K5 and histone H2B-K12 (PubMed:19729656). In nucleus, may have an inhibitory effect on DNA synthesis and cell cycle (PubMed:12954646, PubMed:16103110). In mast cells, is the main regulator of SPP production which mediates calcium influx, NF-kappa-B activation, cytokine production, such as TNF and IL6, and degranulation of mast cells (By similarity). In dopaminergic neurons, is involved in promoting mitochondrial functions regulating ATP and ROS levels (By similarity). Also involved in the regulation of glucose and lipid metabolism (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Pharmacological inhibition of Sphk2 with the orally bioavailable selective inhibitor, ABC294640, has therapeutic potential in the treatment of chemo- and endocrine therapy- resistant breast cancer., [RefSeq, PubMed]; Sphingosine kinase 2 and p62 regulation are determinants of sexual dimorphism in hepatocellular carcinoma., [RefSeq, PubMed]; Sphingosine kinase 2 plays an important role in migration of MDA-MB-453 cells toward EGF., [RefSeq, PubMed]; The accumulation of sphingosine kinase 2 disrupts the DNA damage response and promotes resistance to genotoxic agents., [RefSeq, PubMed]; This gene encodes one of two sphingosine kinase isozymes that catalyze the phosphorylation of sphingosine into sphingosine 1-phosphate. Sphingosine 1-phosphate mediates many cellular processes including migration, proliferation and apoptosis, and also plays a role in several types of cancer by promoting angiogenesis and tumorigenesis. The encoded protein may play a role in breast cancer proliferation and chemoresistance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]., [RefSeq]; YTHDF1-mediated sphingosine kinase 2 upregulation alleviates bupivacaine-induced neurotoxicity via the PI3K/AKT axis., [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": 17, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 898, "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": "A0T4C8;B4DU87;Q9BRN1;Q9H0Q2;Q9NWU7", "ec_number_list": [ { "id": "2.7.1.91", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.91", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" } ], "go_molecular_function": "GO:0001727 lipid kinase activity;GO:0005524 ATP binding;GO:0031267 small GTPase binding;GO:0042393 histone binding;GO:0038036 sphingosine-1-phosphate receptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0032736 positive regulation of interleukin-13 production;GO:0006670 sphingosine metabolic process;GO:0035556 intracellular signal transduction;GO:0043065 positive regulation of apoptotic process;GO:0030148 sphingolipid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 11.6, "record_id": "Q9NRA0-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001001.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P31483-1", "uniprot_id": [ { "id": "TIA1_HUMAN", "url": "https://www.uniprot.org/uniprot/P31483", "type": "external" } ], "mass": 42963.0, "length": 386, "protein_name": "Cytotoxic granule associated RNA binding protein TIA1", "gene_name": "TIA1", "organism": "Human", "refseq_name": "cytotoxic granule associated RNA binding protein TIA1 isoform 1", "refseq_ac": [ { "id": "NP_071320", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071320", "type": "external" } ], "gene_names_uniprotkb": "TIA1", "gene_names_refseq": "ALS26; TIA-1; TIA1; WDM", "protein_names_uniprotkb": "Cytotoxic granule associated RNA binding protein TIA1; Nucleolysin TIA-1 isoform p40; RNA-binding protein TIA-1; T-cell-restricted intracellular antigen-1; TIA-1; p40-TIA-1", "protein_names_refseq": "T-cell-restricted intracellular antigen-1; cytotoxic granule associated RNA binding protein TIA1 isoform 1; cytotoxic granule associated RNA binding protein TIA1; p40-TIA-1 (containing p15-TIA-1)", "tax_id": 9606, "disease": "amyotrophic lateral sclerosis type 26 (Disease Ontology:DOID:0081380); transient cerebral ischemia (Disease Ontology:DOID:224); distal myopathy, Welander type (MONDO:MONDO:0011466)", "pathway": " (hsa:7072); (R-HSA-6803529)", "pathway_count": 2, "publication_count": 87, "publication_id_list": "10613902;10938105;10982855;11106748;11237011;12393912;12486009;14966131;15371533;15601847;16094384;16410617;16449636;16603716;17135269;17488725;17580305;17959601;17984221;18201561;18573884;1906035;19285943;1934064;22869377;23348830;23401021;25576301;25802875;26154972;26992070;27600516;27846572;27862975;28218747;28228285;28514659;28817800;28832583;28904123;29242379;29437277;29493099;29557506;29786170;30410026;30429286;31217245;31844290;32157095;32387766;32488085;32897882;32938616;32983136;33123756;33141586;33214551;33298915;33392160;33537174;33633747;33691108;33912179;33968037;34019948;34185709;34229054;35051231;35318648;35561310;35580925;36010968;36241641;36284347;37349329;37938771;38016875;38279501;38665916;38858355;39142003;7544399;8176212;8576255;9271388;9858549", "class_list": "", "function": "Defining the landscape of TIA1 and SQSTM1 digenic myopathy., [RefSeq, PubMed]; Displays enhanced splicing regulatory activity compared with TIA isoform Long., [UniProtKB, PubMed]; Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients., [RefSeq, PubMed]; Mutagenesis and structural studies reveal the basis for the specific binding of SARS-CoV-2 SL3 RNA element with human TIA1 protein. Publication Status: Online-Only, [RefSeq, PubMed]; RAMP2-AS1 stabilized RAPM2 mRNA through TIA1 to inhibit the progression of non-small cell lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; RNA-binding protein involved in the regulation of alternative pre-RNA splicing and mRNA translation by binding to uridine-rich (U-rich) RNA sequences (PubMed:11106748, PubMed:12486009, PubMed:17488725, PubMed:8576255). Binds to U-rich sequences immediately downstream from a 5' splice sites in a uridine-rich small nuclear ribonucleoprotein (U snRNP)-dependent fashion, thereby modulating alternative pre-RNA splicing (PubMed:11106748, PubMed:8576255). Preferably binds to the U-rich IAS1 sequence in a U1 snRNP-dependent manner; this binding is optimal if a 5' splice site is adjacent to IAS1 (By similarity). Activates the use of heterologous 5' splice sites; the activation depends on the intron sequence downstream from the 5' splice site, with a preference for a downstream U-rich sequence (PubMed:11106748). By interacting with SNRPC/U1-C, promotes recruitment and binding of spliceosomal U1 snRNP to 5' splice sites followed by U-rich sequences, thereby facilitating atypical 5' splice site recognition by U1 snRNP (PubMed:11106748, PubMed:12486009, PubMed:17488725). Activates splicing of alternative exons with weak 5' splice sites followed by a U-rich stretch on its own pre-mRNA and on TIAR mRNA (By similarity). Acts as a modulator of alternative splicing for the apoptotic FAS receptor, thereby promoting apoptosis (PubMed:11106748, PubMed:17488725, PubMed:1934064). Binds to the 5' splice site region of FAS intron 5 to promote accumulation of transcripts that include exon 6 at the expense of transcripts in which exon 6 is skipped, thereby leading to the transcription of a membrane-bound apoptotic FAS receptor, which promotes apoptosis (PubMed:11106748, PubMed:17488725, PubMed:1934064). Binds to a conserved AU-rich cis element in COL2A1 intron 2 and modulates alternative splicing of COL2A1 exon 2 (PubMed:17580305). Also binds to the equivalent AT-rich element in COL2A1 genomic DNA, and may thereby be involved in the regulation of transcription (PubMed:17580305). Binds specifically to a polypyrimidine-rich controlling element (PCE) located between the weak 5' splice site and the intronic splicing silencer of CFTR mRNA to promote exon 9 inclusion, thereby antagonizing PTB1 and its role in exon skipping of CFTR exon 9 (PubMed:14966131). Involved in the repression of mRNA translation by binding to AU-rich elements (AREs) located in mRNA 3' untranslated regions (3' UTRs), including target ARE-bearing mRNAs encoding TNF and PTGS2 (By similarity). Also participates in the cellular response to environmental stress, by acting downstream of the stress-induced phosphorylation of EIF2S1/EIF2A to promote the recruitment of untranslated mRNAs to cytoplasmic stress granules (SGs), leading to stress-induced translational arrest (PubMed:10613902). Formation and recruitment to SGs is regulated by Zn(2+) (By similarity). Possesses nucleolytic activity against cytotoxic lymphocyte target cells (PubMed:1934064)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The miR-30-5p/TIA-1 axis directs cellular senescence by regulating mitochondrial dynamics. Publication Status: Online-Only, [RefSeq, PubMed]; The product encoded by this gene is a member of a RNA-binding protein family and possesses nucleolytic activity against cytotoxic lymphocyte (CTL) target cells. It has been suggested that this protein may be involved in the induction of apoptosis as it preferentially recognizes poly(A) homopolymers and induces DNA fragmentation in CTL targets. The major granule-associated species is a 15-kDa protein that is thought to be derived from the carboxyl terminus of the 40-kDa product by proteolytic processing. Alternative splicing resulting in different isoforms has been found for this gene. [provided by RefSeq, May 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q53SS9;Q96B58", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003730 mRNA 3'-UTR binding;GO:0008143 poly(A) binding;GO:0035925 mRNA 3'-UTR AU-rich region binding;GO:0140517 protein-RNA adaptor activity", "go_cellular_component": "GO:0097165 nuclear stress granule;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:1903608 protein localization to cytoplasmic stress granule;GO:0006397 mRNA processing;GO:0006915 apoptotic process;GO:0008380 RNA splicing;GO:0017148 negative regulation of translation", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "P31483-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JRV8-1", "uniprot_id": [ { "id": "T255A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JRV8", "type": "external" } ], "mass": 38449.0, "length": 349, "protein_name": "Transmembrane protein 255A", "gene_name": "TMEM255A", "organism": "Human", "refseq_name": "transmembrane protein 255A isoform 2", "refseq_ac": [ { "id": "NP_001098014", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001098014", "type": "external" } ], "gene_names_uniprotkb": "TMEM255A; FAM70A", "gene_names_refseq": "FAM70A; TMEM255A", "protein_names_uniprotkb": "Transmembrane protein 255A; Protein FAM70A", "protein_names_refseq": "family with sequence similarity 70, member A; protein FAM70A; transmembrane protein 255A isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:55026)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;19901323;31844290;32387766;35051231", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A8K0W9;B1APR4;B3KPI6;E9PAR3;Q86Y72;Q9NWN8", "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": "Q5JRV8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O76061-1", "uniprot_id": [ { "id": "STC2_HUMAN", "url": "https://www.uniprot.org/uniprot/O76061", "type": "external" } ], "mass": 33249.0, "length": 302, "protein_name": "Stanniocalcin-2", "gene_name": "STC2", "organism": "Human", "refseq_name": "stanniocalcin-2 precursor", "refseq_ac": [ { "id": "NP_003705", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003705", "type": "external" } ], "gene_names_uniprotkb": "STC2", "gene_names_refseq": "STC-2; STC2; STCRP", "protein_names_uniprotkb": "Stanniocalcin-2; STC-2; STC-related protein; STCRP; Stanniocalcin-related protein", "protein_names_refseq": "STC-related protein; stanniocalcin-2 precursor; stanniocalcin-related protein", "tax_id": 9606, "disease": "hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:8614); (R-HSA-381426); (R-HSA-8957275)", "pathway_count": 3, "publication_count": 97, "publication_id_list": "10.1038/emboj.2013.79;10022771;10026136;10077652;10218588;10450831;10512690;10614670;10681634;10810289;10898936;10912521;10951195;10990447;11158056;11237011;11250653;11264294;11316783;11522292;11606061;11739083;11751371;11788658;12241545;12379487;12466191;12810533;12904166;1370451;1383255;15126567;15302935;15308688;15469690;15485880;15525596;15642270;17047378;17249697;17312271;17985932;23584533;2476804;2479552;25418920;25502872;26091039;26992070;28467828;28514659;28904123;29242379;29393594;29493099;29557506;29741879;29786170;30459171;31611695;31844290;31848261;32350084;33592498;34932366;35154160;35251023;35580925;37480032;37507708;37792175;38063115;38159418;38665916;40930100;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7683646;7689487;8781553;8817670;8894645;8964575;9497324;9709957;9723890;9733769;9753616;9786878;9922210", "class_list": "", "function": "Circ-STC2 promotes the ferroptosis of nucleus pulposus cells via targeting miR-486-3p/TFR2 axis. Publication Status: Online-Only, [RefSeq, PubMed]; Evaluating STC2 gene RNA in peripheral blood serum of gastric cancer patients. Publication Status: Online-Only, [RefSeq, PubMed]; Exosomal miR-184 in the aqueous humor of patients with central serous chorioretinopathy: a potential diagnostic and prognostic biomarker. Publication Status: Online-Only, [RefSeq, PubMed]; Has an anti-hypocalcemic action on calcium and phosphate homeostasis., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Integrative Analysis Reveals STC2 as a Prognostic Biomarker of Laryngeal Squamous Cell Carcinoma., [RefSeq, PubMed]; The down-regulation of STC2 mRNA may serve as a biomarker for death from mechanical asphyxia., [RefSeq, PubMed]; This gene encodes a secreted, homodimeric glycoprotein that is expressed in a wide variety of tissues and may have autocrine or paracrine functions. The encoded protein has 10 of its 15 cysteine residues conserved among stanniocalcin family members and is phosphorylated by casein kinase 2 exclusively on its serine residues. Its C-terminus contains a cluster of histidine residues which may interact with metal ions. The protein may play a role in the regulation of renal and intestinal calcium and phosphate transport, cell metabolism, or cellular calcium/phosphate homeostasis. Constitutive overexpression of human stanniocalcin 2 in mice resulted in pre- and postnatal growth restriction, reduced bone and skeletal muscle growth, and organomegaly. Expression of this gene is induced by estrogen and altered in some breast cancers. [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": 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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 1, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0019899 enzyme binding;GO:0042803 protein homodimerization activity;GO:0005179 hormone activity;GO:0020037 heme binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0005794 Golgi apparatus;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0010629 negative regulation of gene expression;GO:0006874 intracellular calcium ion homeostasis;GO:0071456 cellular response to hypoxia;GO:0043434 response to peptide hormone;GO:0033280 response to vitamin D", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "O76061-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96JI7-1", "uniprot_id": [ { "id": "SPTCS_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96JI7", "type": "external" } ], "mass": 278868.0, "length": 2443, "protein_name": "Spatacsin", "gene_name": "SPG11", "organism": "Human", "refseq_name": "spatacsin isoform 2", "refseq_ac": [ { "id": "NP_001153699", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153699", "type": "external" } ], "gene_names_uniprotkb": "SPG11; KIAA1840", "gene_names_refseq": "ALS5; CMT2X; KIAA1840; SPG11", "protein_names_uniprotkb": "Spatacsin; Colorectal carcinoma-associated protein; Spastic paraplegia 11 protein", "protein_names_refseq": "SPG11, spatacsin vesicle trafficking associated; amyotrophic lateral sclerosis 5; colorectal carcinoma-associated protein; spastic paraplegia 11 (autosomal recessive); spastic paraplegia 11 protein; spatacsin isoform 2; spatacsin", "tax_id": 9606, "disease": "amyotrophic lateral sclerosis type 5 (Disease Ontology:DOID:0060197); Charcot-Marie-Tooth disease axonal type 2X (Disease Ontology:DOID:0110176); hereditary spastic paraplegia 11 (Disease Ontology:DOID:0110764)", "pathway": " (hsa:80208)", "pathway_count": 1, "publication_count": 118, "publication_id_list": "10.1101/2023.09.13.557529;11237011;17074750;17322883;17525332;18079167;18669648;19105190;19651622;20110243;20613862;21993680;22424782;22544926;22645359;23481700;24366607;24397554;24714562;24715725;24794856;25418920;25502872;25505266;25576301;25645385;25880248;25892735;26154972;26375851;26556829;26728094;26811146;26992070;27217339;27397612;27600516;27846572;27893789;27920218;28218747;28228285;28514659;28649982;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30192525;30315122;30410026;30429286;30524438;30779550;30833945;31154438;31217245;31222486;31530632;31548259;31844290;31848261;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33091337;33141586;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33968037;33981976;34087483;34171305;34185709;34211107;34357683;34405274;34433824;34509645;34561969;34932366;35051231;35318648;35561310;35580925;36010968;36096339;36284347;36432490;36581221;37938771;38253038", "class_list": "", "function": "May play a role in neurite plasticity by maintaining cytoskeleton stability and regulating synaptic vesicle transport., [UniProtKB, PubMed]; Neurometabolic Dysfunction in SPG11 Hereditary Spastic Paraplegia. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). 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": 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": 75, "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": "A8KAX9;B9EK60;F5H3N6;Q4VC11;Q58G86;Q69YG6;Q6NW01;Q8N270;Q8TBU9;Q9H734", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding", "go_cellular_component": "GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0097753 membrane bending;GO:0007409 axonogenesis;GO:0008088 axo-dendritic transport;GO:0007268 chemical synaptic transmission;GO:0007040 lysosome organization", "synthesized_glycan_count": 0, "hit_score": 12.3, "record_id": "Q96JI7-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13769-1", "uniprot_id": [ { "id": "THOC5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13769", "type": "external" } ], "mass": 78508.0, "length": 683, "protein_name": "THO complex subunit 5", "gene_name": "THOC5", "organism": "Human", "refseq_name": "THO complex subunit 5", "refseq_ac": [ { "id": "NP_001002877", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002877", "type": "external" } ], "gene_names_uniprotkb": "THOC5; C22orf19; KIAA0983", "gene_names_refseq": "C22orf19; Fmip; PK1.3; THOC5; fSAP79", "protein_names_uniprotkb": "THO complex subunit 5; Functional spliceosome-associated protein 79; NF2/meningioma region protein pK1.3; PP39.2; Placental protein 39.2; fSAP79; hTREX90", "protein_names_refseq": "Fms-interacting protein; NF2/meningioma region protein pK1.3; PP39.2; THO complex 5; THO complex subunit 5 homolog; THO complex subunit 5; functional spliceosome-associated protein 79; hTREX90; placental protein 39.2", "tax_id": 9606, "disease": "breast carcinoma (Disease Ontology:DOID:3459)", "pathway": " (hsa:8563); (R-HSA-159236); (R-HSA-72187); (R-HSA-9680350)", "pathway_count": 4, "publication_count": 143, "publication_id_list": "10228171;10323864;10489353;10668806;11073998;11237011;11256625;11259411;11259602;11579093;11739738;11756420;11979277;12093754;12871933;12882960;1334462;15221008;15833825;15998806;16314397;16959974;17000901;17190602;17525332;17984224;18364396;18373705;18411249;18423201;18452278;18467591;18477386;18669648;18957205;18974867;19059247;19165146;19413330;19415658;19651622;19690332;19836239;20068231;20112406;20129943;20166139;20489731;20573985;20844015;21049007;21406692;21947206;2196173;22144908;22153499;22207203;22483114;22544926;22893130;22928037;23032722;23186163;23222130;23299939;23481700;23685434;23826332;24244187;24275569;24366607;24715725;24890514;25418920;25576301;25645385;25662211;25836925;25880248;25892735;26029847;26154972;26235028;26375851;26382858;26811146;26919114;26929215;26992070;27846572;29493099;29557506;30379171;30429286;31530632;31844290;31848261;31937595;31998317;32157095;32265295;32357974;32387766;32488085;32897882;32938616;32983136;33141586;33191911;33298915;33483601;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34211107;34509645;34561969;35051231;35561310;35580925;35688054;36010968;36241641;36284347;37020021;37217939;38253038;40596516;40914422;7597091;7681396;7737969;8242058;8355686;8981370;9225065;9618489;9660949", "class_list": "", "function": "(Microbial infection) The TREX complex is essential for the export of Kaposi's sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production., [UniProtKB, PubMed]; Component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA (PubMed:15833825, PubMed:15998806, PubMed:17190602). Plays a key structural role in the oligomerization of the THO-DDX39B complex (PubMed:33191911). TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NXF1 pathway (PubMed:15833825, PubMed:15998806, PubMed:17190602). THOC5 in conjunction with ALYREF/THOC4 functions in NXF1-NXT1 mediated nuclear export of HSP70 mRNA; both proteins enhance the RNA binding activity of NXF1 and are required for NXF1 localization to the nuclear rim. Involved in transcription elongation and genome stability (PubMed:18974867). Involved in alternative polyadenylation site choice by recruiting CPSF6 to 5' region of target genes; probably mediates association of the TREX and CFIm complexes (PubMed:23685434)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; RNA editing enzyme APOBEC3A promotes pro-inflammatory M1 macrophage polarization. Publication Status: Online-Only, [RefSeq, PubMed]; Regulates the expression of myeloid transcription factors CEBPA, CEBPB and GAB2 by enhancing the levels of phosphatidylinositol 3,4,5-trisphosphate. May be involved in the differentiation of granulocytes and adipocytes. Essential for hematopoietic primitive cell survival and plays an integral role in monocytic development., [UniProtKB, UniProtKB]; THOC5 regulates human osteoclastogenesis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 15, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 21, "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": "O60839;Q9UPZ5", "ec_number_list": [], "go_molecular_function": "GO:0003729 mRNA binding", "go_cellular_component": "GO:0000347 THO complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000445 THO complex part of transcription export complex", "go_biological_process": "GO:0006397 mRNA processing;GO:0006406 mRNA export from nucleus;GO:0008380 RNA splicing;GO:0060215 primitive hemopoiesis;GO:0030224 monocyte differentiation", "synthesized_glycan_count": 0, "hit_score": 15.0, "record_id": "Q13769-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9C093-1", "uniprot_id": [ { "id": "SPEF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9C093", "type": "external" } ], "mass": 209811.0, "length": 1822, "protein_name": "Sperm flagella and cilia-associated protein 2", "gene_name": "SPEF2", "organism": "Human", "refseq_name": "sperm flagellar protein 2 isoform 1", "refseq_ac": [ { "id": "NP_079143", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079143", "type": "external" } ], "gene_names_uniprotkb": "SPEF2; KIAA1770; KPL2", "gene_names_refseq": "CT122; KPL2; SPEF2; SPGF43", "protein_names_uniprotkb": "Sperm flagella and cilia-associated protein 2; Protein KPL2; Sperm flagellar protein 2", "protein_names_refseq": "cancer/testis antigen 122; sperm flagellar 2; sperm flagellar protein 2 isoform 1; sperm flagellar protein 2; testis tissue sperm-binding protein Li 47a", "tax_id": 9606, "disease": "spermatogenic failure 43 (Disease Ontology:DOID:0111917); primary ciliary dyskinesia (Disease Ontology:DOID:9562)", "pathway": " (hsa:79925)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "11237011;19240061;19889948;23481700;24715725;26992070;28832583;29508533;29557506;30379171;31048344;31092671;31151990;31278745;31545650;31844290;31942643;32938616;34509645;34561969;34755699;35051231;35580925;36215666;38568462;39894887", "class_list": "", "function": "Biallelic mutations in Sperm flagellum 2 cause human multiple morphological abnormalities of the sperm flagella (MMAF) phenotype., [RefSeq, PubMed]; In individuals with primary ciliary dyskinesia and central pair defects, the CP-associated protein SPEF2 is absent in HYDIN-mutant cells. 41 of 189 individuals had undetectable SPEF2 and were subjected to a genetic analysis, which revealed one novel loss-of-function mutation in SPEF2 and 3 reported and 13 novel HYDIN mutations in 15 individuals. A mutation of SPEF2 is causative for PCD with a CP defect., [RefSeq, PubMed]; Mutations in SPEF2 are associated with multiple morphological abnormalities of the sperm flagella and primary ciliary dyskinesia., [RefSeq, PubMed]; Novel SPEF2 variants cause male infertility and likely primary ciliary dyskinesia., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Required for correct axoneme development in spermatozoa. Important for normal development of the manchette and sperm head morphology. Essential for male fertility. Plays a role in localization of the intraflagellar transport protein IFT20 to the manchette, suggesting function as an adapter for dynein-mediated protein transport during spermatogenesis (PubMed:31048344, PubMed:31151990, PubMed:31278745). Plays a role in bone growth where it seems to be required for normal osteoblast differentiation (By similarity). Required for normal beat frequency of tracheal epithelial cilia and oviduct cilia (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Sperm flagellar 2 (SPEF2) is essential for sperm flagellar assembly in humans., [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": 64, "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": "Q2TAC9;Q96LL6;Q9H5C7;Q9H5Q7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005929 cilium;GO:0036126 sperm flagellum", "go_biological_process": "GO:0003351 epithelial cilium movement involved in extracellular fluid movement;GO:0007283 spermatogenesis;GO:0048705 skeletal system morphogenesis;GO:0048854 brain morphogenesis;GO:0060541 respiratory system development", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q9C093-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43426-1", "uniprot_id": [ { "id": "SYNJ1_HUMAN", "url": "https://www.uniprot.org/uniprot/O43426", "type": "external" } ], "mass": 173103.0, "length": 1573, "protein_name": "Polyphosphatidylinositol phosphatase SYNJ1", "gene_name": "SYNJ1", "organism": "Human", "refseq_name": "synaptojanin-1 isoform a", "refseq_ac": [ { "id": "NP_003886", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003886", "type": "external" } ], "gene_names_uniprotkb": "SYNJ1; INPP5G; KIAA0910", "gene_names_refseq": "DEE53; EIEE53; INPP5G; PARK20; SYNJ1", "protein_names_uniprotkb": "Polyphosphatidylinositol phosphatase SYNJ1; 3.1.3.-; 3.1.3.95; Inositol polyphosphate-5-phosphatase G; Phosphatidylinositol-3,5-bisphosphate 3-phosphatase SYNJ1; Phosphatidylinositol-4-phosphatase SYNJ1; Synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1; Synaptojanin-1", "protein_names_refseq": "inositol 5'-phosphatase (synaptojanin 1); inositol polyphosphate-5-phosphatase G; phosphoinositide 5-phosphatase; synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1; synaptojanin-1 isoform a; synaptojanin-1, polyphosphoinositide phosphatase", "tax_id": 9606, "disease": "early-onset Parkinson's disease (Disease Ontology:DOID:0060894); Parkinson's disease 20 (Disease Ontology:DOID:0060898); developmental and epileptic encephalopathy 53 (Disease Ontology:DOID:0080464); Down syndrome (Disease Ontology:DOID:14250); Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:8867); (R-HSA-1660499); (R-HSA-1855183); (R-HSA-1855204); (R-HSA-8856828)", "pathway_count": 5, "publication_count": 304, "publication_id_list": "10194451;10224048;10535736;10542231;10555148;10559856;10559861;10559924;10559940;10593988;10625686;10753883;10766823;10805725;10822173;10866302;11001876;11022047;11022048;11042108;11082044;11084340;11118617;11231140;11237011;11239472;11279162;11302699;11349134;11470803;11516654;11517213;11532990;11577110;11604140;11676921;11733541;11877430;11877457;11877461;11889126;11909533;11923287;12057195;12101241;12118066;12213833;12223481;12324459;12422219;12447393;12536145;12646134;12747803;12808147;12847086;12890864;12952949;1333955;1377913;14516276;14555962;14581451;14617351;14617813;14622578;14622579;14660569;15024000;15037625;15080793;15107860;15135396;15140260;15252009;15260957;15316017;15318165;15339664;15464023;15474001;15502812;15502813;15504367;15579586;15649145;15702972;15703209;15716355;15790568;15797027;15802264;15840652;15895077;15916959;16103228;16107206;16154996;16215232;16326391;16399794;16410077;1644792;16476736;16516836;16522682;16707488;16798879;16880396;16903783;16914545;16979564;17008356;17018281;17035995;17068342;17158794;1718960;17245604;17257598;17494869;17512409;17540576;17609109;17651088;17681954;17762867;17765681;17978091;18093523;18364358;18388313;1847920;18669648;18753295;18790740;18981233;19038970;19092055;19179337;19287005;19296720;19458185;19536138;19575674;19603039;19615748;19690332;19696796;19713939;19776351;19809571;19896968;20033059;20059951;20068231;20211604;20231386;20428113;20448150;20534812;20826345;20946875;2115402;21187331;21204784;21278753;21316588;21445324;21482805;21499258;21613550;21779028;21841790;21883765;21927000;21927001;21962517;22037487;22099461;22233676;22371566;22484487;22505844;22647598;22815487;22863004;23186163;23297414;23519112;23536704;23758345;23804563;23804577;23823722;23861397;23891661;24130457;24186068;24275569;24581490;24715725;24789820;24966051;25107275;25303366;25341920;25495341;2550068;26042225;26403691;27435091;27496670;27920218;28218747;2841328;28502045;28832583;29237092;29242379;29331515;29351928;29393594;29437277;29557506;29769354;30059200;30379171;30429286;30620550;31492838;31751865;31844290;32157095;32357974;32387766;32488085;32574038;32938616;32983136;33298915;33349335;33592498;33717175;33912179;33968037;33981976;34087483;34405274;34509645;35051231;35254053;35513511;35705054;36010968;36241641;36284347;37788328;38665916;38838015;39531497;39534244;40307207;40969890;6146630;7608176;7624799;7721860;7761412;7877694;7890667;8006039;8390685;8407970;8454637;8524399;8530101;8552632;8662638;8681945;8723348;8769125;9092476;9094719;9100026;9113989;9211928;9286278;9295334;9360711;9367159;9427626;9428629;9430698;9514948;9516481;9524259;9593664;9635431;9660759;9660833;9736607;9811831;9830063", "class_list": "", "function": "Alpha-Synuclein induces deficiency in clathrin-mediated endocytosis through inhibiting synaptojanin1 expression., [RefSeq, PubMed]; Phosphatase that acts on various phosphoinositides, including phosphatidylinositol 4-phosphate, phosphatidylinositol (4,5)-bisphosphate and phosphatidylinositol (3,4,5)-trisphosphate. Has a role in clathrin-mediated endocytosis. Hydrolyzes PIP2 bound to actin regulatory proteins resulting in the rearrangement of actin filaments downstream of tyrosine kinase and ASH/GRB2., [UniProtKB, UniProtKB, UniProtKB]; Phosphatase that hydrolyzes phosphate groups from the inositol ring of phosphoinositides and inositol phosphates, in a domain-specific manner (PubMed:10224048, PubMed:18093523, PubMed:23804563, PubMed:27435091, PubMed:33349335, PubMed:40969890). The 5-PPase domain catalyzes removal of the 5-phosphate from substrates such as phosphatidylinositol-4,5-bisphosphate (PtdIns(4,5)P2), phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3), inositol-1,4,5-trisphosphate (Ins(1,4,5)P3) and inositol-1,3,4,5-tetrakisphosphate (Ins(1,3,4,5)P4) (PubMed:18093523, PubMed:23804563, PubMed:27435091, PubMed:33349335, PubMed:40969890). The SAC domain hydrolyzes phosphates at the 3- and 4-positions of the inositol ring, targeting phosphatidylinositol-3-phosphate (PI(3)P), phosphatidylinositol-4-phosphate (PI(4)P), and phosphatidylinositol-3,5-bisphosphate (PI(3,5)P2) (PubMed:10224048, PubMed:18093523, PubMed:23804563, PubMed:27435091). Plays a role in the phosphatidylinositol metabolic process during an unconventional endocytic mechanism, the ultrafast endocytosis where it participates in the rapide neck formation of the newly generated synaptic vesicle through its phosphoinositide 5-phosphatase activity (By similarity). Also, participates in the clathrin uncoating of synaptc vesicle formed via budding from synaptic endosomes after ultrafast endocytosis through combined activity of its phosphatase domains (By similarity). Additionally, regulates actin filament rearrangement by hydrolyzing PIP2 bound to actin regulatory proteins (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a phosphoinositide phosphatase that regulates levels of membrane phosphatidylinositol-4,5-bisphosphate. As such, expression of this enzyme may affect synaptic transmission and membrane trafficking. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 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": 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": 13, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "O43425;O94984;Q4KMR1", "ec_number_list": [ { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.95", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.95", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.1.3.64", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.64", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "3.1.3.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.56", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" } ], "go_molecular_function": "GO:0034596 phosphatidylinositol phosphate 4-phosphatase activity;GO:0003723 RNA binding;GO:0034595 phosphatidylinositol phosphate 5-phosphatase activity;GO:0004438 phosphatidylinositol-3-phosphate phosphatase activity;GO:0043812 phosphatidylinositol-4-phosphate phosphatase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0043195 terminal bouton;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0031161 phosphatidylinositol catabolic process;GO:0007612 learning;GO:0061024 membrane organization;GO:0006661 phosphatidylinositol biosynthetic process;GO:0046856 phosphatidylinositol dephosphorylation", "synthesized_glycan_count": 0, "hit_score": 31.3, "record_id": "O43426-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13509-1", "uniprot_id": [ { "id": "TBB3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13509", "type": "external" } ], "mass": 50433.0, "length": 450, "protein_name": "Tubulin beta-3 chain", "gene_name": "TUBB3", "organism": "Human", "refseq_name": "tubulin beta-3 chain isoform 2", "refseq_ac": [ { "id": "NP_001184110", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001184110", "type": "external" } ], "gene_names_uniprotkb": "TUBB3; TUBB4", "gene_names_refseq": "CDCBM1; CDCBM; CFEOM3A; CFEOM3; FEOM3; TUBB3; TUBB4; beta-4", "protein_names_uniprotkb": "Tubulin beta-3 chain; Tubulin beta-4 chain; Tubulin beta-III", "protein_names_refseq": "class III beta-tubulin; tubulin beta-3 chain isoform 2; tubulin beta-4 chain; tubulin beta-III; tubulin, beta 3", "tax_id": 9606, "disease": "cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome (Disease Ontology:DOID:0050997); ptosis (Disease Ontology:DOID:0060260); congenital fibrosis of the extraocular muscles (Disease Ontology:DOID:0080143); congenital fibrosis of the extraocular muscles 3A (Disease Ontology:DOID:0081017); complex cortical dysplasia with other brain malformations (Disease Ontology:DOID:0090131); complex cortical dysplasia with other brain malformations 7 (Disease Ontology:DOID:0090132); complex cortical dysplasia with other brain malformations 1 (Disease Ontology:DOID:0090137); tubulinopathy (Disease Ontology:DOID:0112227); facial paralysis (Disease Ontology:DOID:13934)", "pathway": " (hsa:10381); (R-HSA-1445148); (R-HSA-190840); (R-HSA-190861); (R-HSA-2132295); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-3371497); (R-HSA-380320); (R-HSA-389957); (R-HSA-389960); (R-HSA-389977); (R-HSA-437239); (R-HSA-5610787); (R-HSA-5620920); (R-HSA-5620924); (R-HSA-5626467); (R-HSA-5663220); (R-HSA-6807878); (R-HSA-6811434); (R-HSA-6811436); (R-HSA-68877); (R-HSA-8852276); (R-HSA-8955332); (R-HSA-9609690); (R-HSA-9609736); (R-HSA-9619483); (R-HSA-9646399); (R-HSA-9648025); (R-HSA-9668328); (R-HSA-983189); (R-HSA-9833482)", "pathway_count": 32, "publication_count": 811, "publication_id_list": 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"class_list": "", "function": "Infantile esotropia in a family with TUBB3 mutation associated congenital fibrosis of extraocular muscles., [RefSeq, PubMed]; NOTCH3 promotes docetaxel resistance of prostate cancer cells through regulating TUBB3 and MAPK signaling pathway., [RefSeq, PubMed]; OSGIN1 is a novel TUBB3 regulator that promotes tumor progression and gefitinib resistance in non-small cell lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a class III member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is primarily expressed in neurons and may be involved in neurogenesis and axon guidance and maintenance. Mutations in this gene are the cause of congenital fibrosis of the extraocular muscles type 3. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Oct 2010]., [RefSeq]; Tubb3 expression levels are sensitive to neuronal activity changes and determine microtubule growth and kinesin-mediated transport. Publication Status: Online-Only, [RefSeq, PubMed]; Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin., [UniProtKB, UniProtKB]; Tubulin is the major constituent of microtubules, protein filaments consisting of alpha- and beta-tubulin heterodimers (PubMed:34996871, PubMed:38305685, PubMed:38609661). Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms (PubMed:34996871, PubMed:38305685, PubMed:38609661). Below the cap, alpha-beta tubulin heterodimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin (PubMed:34996871, PubMed:38609661). TUBB3 plays a critical role in proper axon guidance and maintenance (PubMed:20074521). Binding of NTN1/Netrin-1 to its receptor UNC5C might cause dissociation of UNC5C from polymerized TUBB3 in microtubules and thereby lead to increased microtubule dynamics and axon repulsion (PubMed:28483977). Plays a role in dorsal root ganglion axon projection towards the spinal cord (PubMed:28483977)., [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": 1, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 9, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8K854;Q9BTZ0;Q9BW10", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005200 structural constituent of cytoskeleton;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0042277 peptide binding", "go_cellular_component": "GO:0097229 sperm end piece;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005874 microtubule;GO:0005929 cilium", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0000226 microtubule cytoskeleton organization;GO:0007411 axon guidance;GO:1990791 dorsal root ganglion development;GO:0007017 microtubule-based process", "synthesized_glycan_count": 0, "hit_score": 81.8, "record_id": "Q13509-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IWL8-1", "uniprot_id": [ { "id": "STH_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IWL8", "type": "external" } ], "mass": 13652.0, "length": 128, "protein_name": "Saitohin", "gene_name": "STH", "organism": "Human", "refseq_name": "saitohin", "refseq_ac": [ { "id": "NP_001007533", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007533", "type": "external" } ], "gene_names_uniprotkb": "STH", "gene_names_refseq": "MAPTIT; STH", "protein_names_uniprotkb": "Saitohin", "protein_names_refseq": "microtubule-associated protein tau (MAPT) intronic transcript; saitohin", "tax_id": 9606, "disease": "", "pathway": " (hsa:246744)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "12032355;12402275;12447938;12826737;12913211;16186110;25305495;28211174;28411811;32615840", "class_list": "", "function": "A gene within an intron of the tau gene; Q7R polymorphism appears to be over-represented in the homozygous state in late onset Alzheimer's disease subjects, [RefSeq, PubMed]; Association of Saitohin gene rs62063857 polymorphism with dry type age-related macular degeneration., [RefSeq, PubMed]; At the STH gene only a common polymorphic change was found., [RefSeq, PubMed]; Results of this meta-analysis suggested that MAPT_238bp/STH Q7R polymorphisms might modulate the risk of Parkinson's disease susceptibility, [RefSeq, PubMed]; Saitohin Q7R polymorphism is associated with late-onset Alzheimer's disease susceptibility among caucasian populations. (Meta-analysis), [RefSeq, PubMed]; The saitohin Q allele, a novel determinant of tau H1 haplotypes, may represent a causative factor involved in the determinism of several tauopathies, e.g., frontotemporal dementia., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A1L3X7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0048026 positive regulation of mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q8IWL8-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6J8-1", "uniprot_id": [ { "id": "STYL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6J8", "type": "external" } ], "mass": 35818.0, "length": 313, "protein_name": "Serine/threonine/tyrosine-interacting-like protein 1", "gene_name": "STYXL1", "organism": "Human", "refseq_name": "serine/threonine/tyrosine-interacting-like protein 1 isoform a", "refseq_ac": [ { "id": "NP_001304714", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304714", "type": "external" } ], "gene_names_uniprotkb": "STYXL1; DUSP24; MKSTYX", "gene_names_refseq": "DUSP24; MK-STYX; MKSTYX; STYXL1", "protein_names_uniprotkb": "Serine/threonine/tyrosine-interacting-like protein 1; Dual specificity phosphatase inhibitor MK-STYX; Dual specificity protein phosphatase 24; Inactive dual specificity protein phosphatase MK-STYX; Map kinase phosphatase-like protein MK-STYX", "protein_names_refseq": "dual specificity phosphatase 24 (putative); dual specificity phosphatase inhibitor MK-STYX; dual specificity protein phosphatase 24; inactive dual specificity protein phosphatase MK-STYX; map kinase phosphatase-like protein MK-STYX; serine/threonine/tyrosine-interacting-like protein 1 isoform a; serine/threonine/tyrosine-interacting-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:51657)", "pathway_count": 1, "publication_count": 87, "publication_id_list": "11237011;20180778;21262771;22645359;23163895;23481700;24366607;24709986;24714562;24715725;25418920;25576301;25645385;25880248;25892735;26024233;26154972;26375851;26728094;26811146;26929215;26992070;27397612;27846572;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29250526;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30410026;30429286;30524438;30909412;31146910;31844290;32157095;32265295;32271415;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34171305;34185709;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36581221;37198709;37217939;37516290;9757831", "class_list": "", "function": "Catalytically inactive phosphatase (PubMed:20180778, PubMed:23163895). By binding to G3BP1, inhibits the formation of G3BP1-induced stress granules (PubMed:20180778, PubMed:23163895). Does not act by protecting the dephosphorylation of G3BP1 at 'Ser-149' (PubMed:23163895). Inhibits PTPMT1 phosphatase activity (PubMed:24709986). By inhibiting PTPMT1, positively regulates intrinsic apoptosis (PubMed:21262771). May play a role in the formation of neurites during neuronal development (PubMed:29250526)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Pseudophosphatase STYXL1 depletion enhances glucocerebrosidase trafficking to lysosomes via ER stress., [RefSeq, PubMed]; STYXL1 promotes malignant progression of hepatocellular carcinoma via downregulating CELF2 through the PI3K/Akt pathway., [RefSeq, PubMed]; Silencing serine/threonine/tyrosine-interacting-like protein 1 (STYXL1) inhibited glioma cell growth, soft agar colony formation, migration, invasion, proliferation, and xenograft tumor growth [Review]. Review article, [RefSeq, PubMed]; The DUSP domain of pseudophosphatase MK-STYX interacts with G3BP1 to decrease stress granules., [RefSeq, PubMed]; These findings show that MK-STYX decreases the number of HDAC6-containing aggregates and alters their localization, sustains microtubule acetylation, and increases detyrosination of microtubules, implicating MK-STYX as a signaling molecule in HDAC6 activity. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 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": "Q9UBP1;Q9UK06;Q9UK07;Q9UKG2;Q9UKG3", "ec_number_list": [], "go_molecular_function": "GO:0019212 phosphatase inhibitor activity;GO:0019903 protein phosphatase binding;GO:0001691 pseudophosphatase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0010976 positive regulation of neuron projection development;GO:0035556 intracellular signal transduction;GO:2001244 positive regulation of intrinsic apoptotic signaling pathway;GO:2001242 regulation of intrinsic apoptotic signaling pathway;GO:0062030 negative regulation of stress granule assembly", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "Q9Y6J8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HCS4-1", "uniprot_id": [ { "id": "TF7L1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HCS4", "type": "external" } ], "mass": 62631.0, "length": 588, "protein_name": "Transcription factor 7-like 1", "gene_name": "TCF7L1", "organism": "Human", "refseq_name": "transcription factor 7-like 1", "refseq_ac": [ { "id": "NP_112573", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112573", "type": "external" } ], "gene_names_uniprotkb": "TCF7L1; TCF3", "gene_names_refseq": "TCF7L1", "protein_names_uniprotkb": "Transcription factor 7-like 1; HMG box transcription factor 3; TCF-3", "protein_names_refseq": "HMG box transcription factor 3; transcription factor 7-like 1 (T-cell specific, HMG-box); transcription factor 7-like 1", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:83439); (R-HSA-201722); (R-HSA-3769402); (R-HSA-4086398); (R-HSA-4411364); (R-HSA-4641265); (R-HSA-8951430); (R-HSA-9825892); (R-HSA-9834899); (R-HSA-9909649)", "pathway_count": 10, "publication_count": 190, "publication_id_list": "10080941;10201372;10318916;10375506;10380924;10391246;10391247;10395542;10485845;10488343;10549281;10559189;10588714;10769018;10770922;10775268;10777564;10831834;10858654;10898789;10919662;10921920;10944533;11015615;11030334;11050151;11062467;11080158;11085512;11136974;11237011;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;15121853;15132997;15187083;15294866;15327769;15494017;15525529;15545263;15611108;15768032;15829968;16005293;16169192;16510874;16547505;16630820;16756492;16880514;16920709;16959974;17052462;17218525;17377531;17412698;1741298;17425782;17426020;17428831;17458864;17684012;17698607;17875931;17923689;18160704;18347063;18378692;18404694;18456304;18456656;18488142;18498752;18507432;18573912;18593890;18598779;18621708;18721877;18772112;18819930;19047045;19088198;19148484;19177143;19304756;19364920;19460168;19487454;19493659;19536106;19571879;19590513;19851316;19928349;19940019;20360007;20405012;21118996;21654818;21726809;21903638;22186018;22190459;22201888;22304967;22617422;22647378;22941947;22982193;23151663;23256519;23416699;23632248;23904219;24171719;24291232;24715725;25142731;25576301;26486273;26590425;27869121;2841328;30385408;30429286;30779550;31154438;31530632;31848261;32157095;32183950;32860047;33824876;35051231;35078577;36284347;36833408;38370338;38816533;7987387;8343963;8365415;8756721;8757136;8895516;8955148;9073455;9118222;9389482;9488439;9490669;9710594;9727977;9751710;9783587;9819412;9843967;9887105;9916915", "class_list": "", "function": "MicroRNA-329-3p inhibits the Wnt/beta-catenin pathway and proliferation of osteosarcoma cells by targeting transcription factor 7-like 1. Erratum:[Oncol Res. 2024 Jul 17;32(8):1369-1370. doi: 10.32604/or.2024.052652. PMID: 39055887] Publication Status: Online-Only, [RefSeq, PubMed]; Participates in the Wnt signaling pathway. Binds to DNA and acts as a repressor in the absence of CTNNB1, and as an activator in its presence. Necessary for the terminal differentiation of epidermal cells, the formation of keratohyalin granules and the development of the barrier function of the epidermis (By similarity). Down-regulates NQO1, leading to increased mitomycin c resistance., [UniProtKB]; TCF7L1 Genetic Variants Are Associated with the Susceptibility to Cervical Cancer in a Chinese Population. Publication Status: Online-Only, [RefSeq, PubMed]; TCF7L1 Regulates LGR5 Expression in Colorectal Cancer Cells. Publication Status: Online-Only, [RefSeq, PubMed]; TCF7L1 regulates colorectal cancer cell migration by repressing GAS1 expression. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the T cell factor/lymphoid enhancer factor family of transcription factors. These transcription factors are activated by beta catenin, mediate the Wnt signaling pathway and are antagonized by the transforming growth factor beta signaling pathway. The encoded protein contains a high mobility group-box DNA binding domain and participates in the regulation of cell cycle genes and cellular senescence. [provided by RefSeq, Nov 2010]., [RefSeq]; [T cell factor 3 (TCF3) is overexpressed in hepatocellular carcinoma and promotes their invasion and metastasis]., [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": 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": "Q53R97;Q6PD70;Q9NP00", "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: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:0006355 regulation of DNA-templated transcription;GO:0006325 chromatin organization;GO:0030111 regulation of Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 19.1, "record_id": "Q9HCS4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P28290-1", "uniprot_id": [ { "id": "ITPI2_HUMAN", "url": "https://www.uniprot.org/uniprot/P28290", "type": "external" } ], "mass": 138386.0, "length": 1259, "protein_name": "Protein ITPRID2", "gene_name": "ITPRID2", "organism": "Human", "refseq_name": "protein ITPRID2 isoform 1", "refseq_ac": [ { "id": "NP_001123917", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123917", "type": "external" } ], "gene_names_uniprotkb": "ITPRID2; CS1; KIAA1927; KRAP; SSFA2", "gene_names_refseq": "CS-1; CS1; ITPRID2; KRAP; SPAG13; SSFA2", "protein_names_uniprotkb": "Protein ITPRID2; CS-1; Cleavage signal-1 protein; ITPR-interacting domain-containing protein 2; Ki-ras-induced actin-interacting protein; Sperm-specific antigen 2", "protein_names_refseq": "ITPR-interacting domain-containing protein 2; KRAS-induced actin-interacting protein; cleavage signal-1 protein; ki-ras-induced actin-interacting protein; protein ITPRID2 isoform 1; protein ITPRID2; sperm associated antigen 13; sperm specific antigen 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:6744)", "pathway_count": 1, "publication_count": 61, "publication_id_list": "10.1101/2023.09.13.557529;11237011;14673706;1555770;17081983;17934691;18669648;19369195;19690332;20068231;23186163;23481700;24275569;25218447;25576301;25645385;26853435;26947549;26992070;27600516;27869121;28218747;28228285;28832583;28904123;29242379;29393594;29557506;30192525;30315122;30379171;30429286;30779550;31217245;31844290;31848261;32157095;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33912179;33968037;33981976;34087483;34171305;34405274;34509645;34561969;35051231;35580925;36010968;36241641;36284347;38642666;38665916;38786982", "class_list": "", "function": "IP3R1 dysregulation via mir-200c-3p/SSFA2 axis contributes to taxol resistance in head and neck cancer., [RefSeq, PubMed]; KRAP regulates mitochondrial Ca2+ uptake by licensing IP3 receptor activity and stabilizing ER-mitochondrial junctions., [RefSeq, PubMed]; Localized as a membrane-bound form with extracellular regions; results suggested KRAP might be involved in the regulation of filamentous actin and signals from the outside of the cells, [RefSeq, PubMed]; Results suggested that KRAP might be a cytoskeleton-associated protein involving the structural integrity and/or signal transductions in human cancers., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 27, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "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": "A8K6T0;Q68DA6;Q7Z7L2;Q8N1L3;Q8N263;Q8N7H2;Q8NEN5;Q96E36;Q96PW1", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0051015 actin filament binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "P28290-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UJT0-1", "uniprot_id": [ { "id": "TBE_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UJT0", "type": "external" } ], "mass": 52932.0, "length": 475, "protein_name": "Tubulin epsilon chain", "gene_name": "TUBE1", "organism": "Human", "refseq_name": "tubulin epsilon chain", "refseq_ac": [ { "id": "NP_057346", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057346", "type": "external" } ], "gene_names_uniprotkb": "TUBE1; TUBE", "gene_names_refseq": "TUBE1; TUBE; dJ142L7.2", "protein_names_uniprotkb": "Tubulin epsilon chain; Epsilon-tubulin", "protein_names_refseq": "epsilon-tubulin; tubulin epsilon chain", "tax_id": 9606, "disease": "", "pathway": " (hsa:51175)", "pathway_count": 1, "publication_count": 61, "publication_id_list": "10620804;11237011;17145369;19851462;20508983;22898188;24397554;24715725;25418920;25645385;25802875;26154972;26811146;26929215;26992070;27846572;27920218;28063628;28218747;28228285;28832583;28834231;28904123;28906251;29242379;29393594;29437277;29493099;29557506;29632046;29741879;29769354;30315122;30429286;30524438;30833945;31844290;32157095;32265295;32357974;32387766;32488085;32897882;32938616;33298915;33537174;33592498;33912179;33968037;33981976;34171305;34355505;34932366;35051231;35318648;35561310;35580925;36010968;36241641;36284347;37938771", "class_list": "", "function": "EB1 recognizes the nucleotide state of tubulin in the microtubule lattice Publication Status: Online-Only, [RefSeq, PubMed]; Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children., [RefSeq, PubMed]; Here, the authors report that centrioles in delta-tubulin and epsilon-tubulin null mutant human cells lack triplet microtubules and fail to undergo centriole maturation. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a member of the tubulin superfamily. This protein localizes to the centriolar sub-distal appendages that are associated with the older of the two centrioles after centrosome duplication. This protein plays a central role in organization of the microtubules during centriole duplication. A pseudogene of this gene is found on chromosome 5.[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": 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": 8796, "biomarker_type": "", "glycan_count": 6, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5H8W8;Q8NEG3", "ec_number_list": [], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0005525 GTP binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005874 microtubule;GO:0000242 pericentriolar material", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0007010 cytoskeleton organization;GO:0000226 microtubule cytoskeleton organization;GO:0007098 centrosome cycle;GO:0007017 microtubule-based process", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q9UJT0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z6K1-1", "uniprot_id": [ { "id": "THAP5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z6K1", "type": "external" } ], "mass": 45416.0, "length": 395, "protein_name": "THAP domain-containing protein 5", "gene_name": "THAP5", "organism": "Human", "refseq_name": "THAP domain-containing protein 5 isoform 1", "refseq_ac": [ { "id": "NP_001123947", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123947", "type": "external" } ], "gene_names_uniprotkb": "THAP5", "gene_names_refseq": "THAP5", "protein_names_uniprotkb": "THAP domain-containing protein 5", "protein_names_refseq": "THAP domain-containing protein 5 isoform 1; THAP domain-containing protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:168451)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "11237011;19502560;20602751;21110952;21195082;23481700;23646949;25418920;26154972;26375851;26992070;27397612;28514659;28832583;29393594;29508533;29557506;29632046;29671580;30315122;30429286;30779550;31217245;31844290;32157095;32265295;32387766;32938616;33717175;33912179;35051231;35580925;36241641", "class_list": "", "function": "Has sequence-specific DNA-binding activity and can function as transcriptional repressor (in vitro) (PubMed:21110952). May be a regulator of cell cycle: THAP5 overexpression in human cell lines causes cell cycle arrest at G2/M phase (PubMed:19502560)., [UniProtKB, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Study identified Abro1 as a specific interactor of THAP5, a zinc finger transcription factor that is involved in G2/M control and apoptosis., [RefSeq, PubMed]; THAP5 and its regulation by Omi/HtrA2 provide a new link between cell cycle control and apoptosis in cardiomyocytes, [RefSeq, PubMed]; This work suggests that THAP5 is a DNA-binding protein and a transcriptional repressor. THAP5 has a pro-apoptotic function and it was induced in melanoma cells under conditions that promoted cell death., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 9, "reported_interactions": 0, "missing_score": 8686, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0002020 protease binding;GO:0003677 DNA binding;GO:0008270 zinc ion binding", "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:0045786 negative regulation of cell cycle", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q7Z6K1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q687X5-1", "uniprot_id": [ { "id": "STEA4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q687X5", "type": "external" } ], "mass": 51981.0, "length": 459, "protein_name": "Metalloreductase STEAP4", "gene_name": "STEAP4", "organism": "Human", "refseq_name": "metalloreductase STEAP4 isoform 1", "refseq_ac": [ { "id": "NP_001192244", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001192244", "type": "external" } ], "gene_names_uniprotkb": "STEAP4; STAMP2; TNFAIP9", "gene_names_refseq": "STAMP2; STEAP4; SchLAH; TIARP; TNFAIP9", "protein_names_uniprotkb": "Metalloreductase STEAP4; 1.16.1.-; Six-transmembrane epithelial antigen of prostate 4; SixTransMembrane protein of prostate 2; Tumor necrosis factor, alpha-induced protein 9", "protein_names_refseq": "STEAP family member 4; metalloreductase STEAP4 isoform 1; metalloreductase STEAP4; seven chromosome locus associated with HCC; six transmembrane prostate protein 2; six-transmembrane epithelial antigen of prostate 4; sixTransMembrane protein of prostate 2; tumor necrosis factor, alpha-induced protein 9; tumor necrosis-alpha-induced adipose-related protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:79689); (R-HSA-917977)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "10.1101/2023.09.13.557529;10409623;10802645;11237011;11800564;12531241;15897894;16227996;16564538;16609065;16793765;17662945;17729390;18381574;18430367;18794901;19159218;19289123;19660107;19787193;20112406;26205815;29393594;29557506;29786170;30337524;30429286;31844290;32157095;32938616;33214551;34649092;34691017;35051231;35227772;35390632;35580925;37866665;37938771;6141558;6309857;9465039", "class_list": "", "function": "Down-regulation of STEAP4 is associated with obesity in humans., [RefSeq, PubMed]; Human WAT STAMP2 associates with obesity and insulin resistance independently of adiponectin., [RefSeq, PubMed]; Integral membrane protein that functions as a NADPH-dependent ferric-chelate reductase, using NADPH from one side of the membrane to reduce a Fe(3+) chelate that is bound on the other side of the membrane. Mediates sequential transmembrane electron transfer from NADPH to FAD and onto heme, and finally to the Fe(3+) chelate (PubMed:30337524). Can also reduce Cu(2+) to Cu(1+) (By similarity). Plays a role in systemic metabolic homeostasis, integrating inflammatory and metabolic responses (By similarity). Associated with obesity and insulin-resistance (PubMed:18381574, PubMed:18430367). Involved in inflammatory arthritis, through the regulation of inflammatory cytokines (PubMed:19660107). Inhibits anchorage-independent cell proliferation (PubMed:19787193)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Predictive potential of STEAP family for survival, immune microenvironment and therapy response in glioma., [RefSeq, PubMed]; SSTEAP4 regulates cellular homeostasis and improves high-fat-diet-caused oxidative stress in hepatocytes., [RefSeq, PubMed]; STEAP4 modulates cell proliferation and oxidative stress in benign prostatic hyperplasia., [RefSeq, PubMed]; STEAP4 promoter methylation correlates with tumorigenesis of hepatocellular carcinoma., [RefSeq, PubMed]; Stamp2 Protects From Maladaptive Structural Remodeling and Systolic Dysfunction in Post-Ischemic Hearts by Attenuating Neutrophil Activation. Publication Status: Online-Only, [RefSeq, PubMed]; TIARP/STAMP2 is highly upregulated in 3T3-L1 cells and hMSC-Ad by IL-1beta and might, therefore, modulate proinflammatory and insulin resistance-inducing effects of IL-1beta., [RefSeq, PubMed]; The protein encoded by this gene belongs to the STEAP (six transmembrane epithelial antigen of prostate) family, and resides in the golgi apparatus. It functions as a metalloreductase that has the ability to reduce both Fe(3+) to Fe(2+) and Cu(2+) to Cu(1+), using NAD(+) as acceptor. Studies in mice and human suggest that this gene maybe involved in adipocyte development and metabolism, and may contribute to the normal biology of the prostate cell, as well as prostate cancer progression. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 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": 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": 1, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q658Q9;Q687X4;Q8WWB0;Q9H5R1", "ec_number_list": [ { "id": "1.16.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.1.-", "type": "external" } ], "go_molecular_function": "GO:0009055 electron transfer activity;GO:0046872 metal ion binding;GO:0071949 FAD binding;GO:0020037 heme binding;GO:0008823 cupric reductase (NADH) activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005768 endosome;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0045444 fat cell differentiation;GO:0070207 protein homotrimerization;GO:0015677 copper ion import;GO:0006826 iron ion transport", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q687X5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BYT3-1", "uniprot_id": [ { "id": "STK33_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BYT3", "type": "external" } ], "mass": 57831.0, "length": 514, "protein_name": "Serine/threonine-protein kinase 33", "gene_name": "STK33", "organism": "Human", "refseq_name": "serine/threonine-protein kinase 33 isoform b", "refseq_ac": [ { "id": "NP_001275987", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275987", "type": "external" } ], "gene_names_uniprotkb": "STK33", "gene_names_refseq": "SPGF93; STK33", "protein_names_uniprotkb": "Serine/threonine-protein kinase 33; 2.7.11.1", "protein_names_refseq": "serine/threonine-protein kinase 33 isoform b; serine/threonine-protein kinase 33", "tax_id": 9606, "disease": "spermatogenic failure 93 (Disease Ontology:DOID:0070592); depressive disorder (Disease Ontology:DOID:1596); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:65975)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "11237011;11738831;16176263;17344846;18077418;18691976;19413330;19490892;20816195;21742770;22564745;23301498;23481700;25576301;26992070;30410026;30760631;31844290;33141586;33298915;33968037;33981976;34155512;34171305;35051231;37101009;37146716;38781365;39894887", "class_list": "", "function": "Data show that serine/threonine kinase 33 (STK33) can bind with extracellular signal-regulated kinase 2 (ERK2) and take part in the regulation of ERKs signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Interaction between STK33 and autophagy promoted renal cell carcinoma metastasis by regulating mTOR/ULK1 signaling pathway., [RefSeq, PubMed]; Novel frameshift mutation in STK33 is associated with asthenozoospermia and multiple morphological abnormalities of the flagella., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; STK33/Stk33 expression pattern resembles those of some related members of the calcium/calmodulin dependent kinase group, [RefSeq, PubMed]; Serine/threonine protein kinase required for spermatid differentiation and male fertility (PubMed:37146716, PubMed:38781365). Promotes sperm flagella assembly during spermatogenesis by mediating phosphorylation of fibrous sheath proteins AKAP3 and AKAP4 (By similarity). Also phosphorylates vimentin/VIM, thereby regulating the dynamic behavior of the intermediate filament cytoskeleton (By similarity)., [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 6, "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": "Q658S6;Q8NEF5", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0106310 protein serine kinase activity;GO:0004672 protein kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0048471 perinuclear region of cytoplasm;GO:0002177 manchette", "go_biological_process": "GO:0044773 mitotic DNA damage checkpoint signaling;GO:0007283 spermatogenesis;GO:0046777 protein autophosphorylation;GO:0018107 peptidyl-threonine phosphorylation;GO:0032435 negative regulation of proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q9BYT3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2M2D7-1", "uniprot_id": [ { "id": "TBC28_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2M2D7", "type": "external" } ], "mass": 24072.0, "length": 210, "protein_name": "TBC1 domain family member 28", "gene_name": "TBC1D28", "organism": "Human", "refseq_name": "TBC1 domain family member 28", "refseq_ac": [ { "id": "NP_001034486", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034486", "type": "external" } ], "gene_names_uniprotkb": "TBC1D28", "gene_names_refseq": "TBC1D28", "protein_names_uniprotkb": "TBC1 domain family member 28", "protein_names_refseq": "TBC1 domain family member 28", "tax_id": 9606, "disease": "", "pathway": " (hsa:254272)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;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": 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": "Q2M2E1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q2M2D7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IZP1-1", "uniprot_id": [ { "id": "TBC3A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IZP1", "type": "external" } ], "mass": 62187.0, "length": 549, "protein_name": "TBC1 domain family member 3", "gene_name": "TBC1D3", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TBC1D3; PRC17; TBC1D3A", "gene_names_refseq": "", "protein_names_uniprotkb": "TBC1 domain family member 3; Prostate cancer gene 17 protein; Protein TRE17-alpha; Rab GTPase-activating protein PRC17", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:414060); (hsa:729873); (R-HSA-8854214)", "pathway_count": 3, "publication_count": 29, "publication_id_list": "10202141;11230166;12359748;12604796;16055087;16395330;17658474;17901050;18199687;18319245;18466115;20095038;20116244;20363736;20404108;21030649;21383079;21458671;22219378;22613832;22762500;22795129;22854040;23019362;23562278;23578663;31492838;8406013;8471161", "class_list": "", "function": "Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11., [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": 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": "A6NGX2;A8K007;Q6DCB4;Q9H0B9;Q9UDD4", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0031901 early endosome membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q8IZP1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P1N9-1", "uniprot_id": [ { "id": "TATD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P1N9", "type": "external" } ], "mass": 33602.0, "length": 297, "protein_name": "Deoxyribonuclease TATDN1", "gene_name": "TATDN1", "organism": "Human", "refseq_name": "deoxyribonuclease TATDN1 isoform d", "refseq_ac": [ { "id": "NP_001304819", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304819", "type": "external" } ], "gene_names_uniprotkb": "TATDN1; CDA11", "gene_names_refseq": "CDA11; TATDN1", "protein_names_uniprotkb": "Deoxyribonuclease TATDN1; 3.1.11.-; 3.1.21.-; DNA-(apurinic or apyrimidinic site) endonuclease TATDN1; Hepatocarcinoma high expression protein", "protein_names_refseq": "DNA-(apurinic or apyrimidinic site) endonuclease TATDN1; deoxyribonuclease TATDN1 isoform d; hepatocarcinoma high expression protein; putative deoxyribonuclease TATDN1", "tax_id": 9606, "disease": "", "pathway": " (hsa:83940)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "11237011;20112406;25576301;25645385;25880248;26154972;26943769;26992070;27600516;27846572;27920218;28228285;28832583;28834231;28904123;29242379;29632046;29786170;30315122;30481109;31298381;31378885;31844290;32157095;32350084;32357974;33298915;33392160;33537174;33592498;33981976;34171305;34185709;34932366;35051231;35318648;35580925;36010968;36241641;36881763;37938771;38665916", "class_list": "", "function": "Exhibits 3'-5' exonuclease and apurinic/apyrimidinic (AP) endonuclease activities (in vitro) (PubMed:36881763). Shows preferential AP endonuclease activity on dsDNA substrates and 3'-5' exonuclease activity on ssDNA (PubMed:36881763). Catalyzes decatenation of catenated kinetoplast DNA to produce separated linear DNA in vitro (By similarity). Plays an important role in chromosomal segregation and cell cycle progression during eye development probably via its DNA decatenation activity (By similarity)., [UniProtKB, UniProtKB, PubMed]; Human and bacterial TatD enzymes exhibit apurinic/apyrimidinic (AP) endonuclease activity., [RefSeq, PubMed]; LncRNA TATDN1 induces the progression of hepatocellular carcinoma via targeting miRNA-6089., [RefSeq, PubMed]; TATDN1 enhanced the DDP-tolerance of NSCLC cells by upregulating TRIM66 expression via sponging miR-451, hinting a novel regulatory pathway of chemoresistance in DDP-tolerant NSCLC cells., [RefSeq, PubMed]; TATDN1 promotes the development and progression of breast cancer by targeting microRNA-140-3p., [RefSeq, PubMed]; The data indicate that TATDN1 expression is associated with 95D cells' higher potential of invasion and metastasis, and suggest that TATDN1 may be a potential prognostic factor and therapeutic target for non-small cell lung 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": 0, "reported_mutagensis": 6, "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": "B2R5J0;Q8TD02;Q9BY40", "ec_number_list": [], "go_molecular_function": "GO:0008296 3'-5'-DNA exonuclease activity;GO:0046872 metal ion binding;GO:0004520 DNA endonuclease activity;GO:0016788 hydrolase activity, acting on ester bonds;GO:0004518 nuclease activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005739 mitochondrion", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q6P1N9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49589-1", "uniprot_id": [ { "id": "SYCC_HUMAN", "url": "https://www.uniprot.org/uniprot/P49589", "type": "external" } ], "mass": 85473.0, "length": 748, "protein_name": "Cysteine--tRNA ligase, cytoplasmic", "gene_name": "CARS1", "organism": "Human", "refseq_name": "cysteine--tRNA ligase, cytoplasmic isoform c", "refseq_ac": [ { "id": "NP_001014437", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014437", "type": "external" } ], "gene_names_uniprotkb": "CARS1; CARS", "gene_names_refseq": "CARS1; CARS; CYSRS; MCDDBH; MDBH; MGC:11246", "protein_names_uniprotkb": "Cysteine--tRNA ligase, cytoplasmic; 6.1.1.16; CysRS; Cysteinyl-tRNA synthetase", "protein_names_refseq": "cysteine tRNA ligase 1, cytoplasmic; cysteine translase; cysteine--tRNA ligase, cytoplasmic isoform c; cysteine--tRNA ligase, cytoplasmic", "tax_id": 9606, "disease": "microcephaly (Disease Ontology:DOID:10907); microcephaly, developmental delay, and brittle hair syndrome (MONDO:MONDO:0030047)", "pathway": " (hsa:833); (R-HSA-379716); (R-HSA-9725370)", "pathway_count": 3, "publication_count": 195, "publication_id_list": "10.1101/2023.09.13.557529;10216106;10556217;10702393;10706082;10706887;10934142;11110708;11237011;11280786;11310834;11347887;11504915;11714285;11751994;11829477;11850821;11858721;11943732;11988758;12112524;12185581;12424201;12690580;12750159;12800156;12920229;12934099;1373391;14660560;14671330;14962911;15169778;15208656;15374880;15588951;15592455;15895073;16055448;16153455;16161041;16170336;16429158;16825495;16871283;16906134;16939498;17086210;17353907;17416736;17483340;1761529;17625570;18097461;18452557;18593892;18594010;18669648;18701132;18724359;18923523;18923524;18923525;19456272;19459784;19608861;19664994;20068231;20454865;21134980;21164297;21213368;21415216;21494621;21596819;21656749;21838707;21847362;22249260;22327622;22347464;22570254;22658521;23104988;23139213;23186163;23201355;23239810;23661334;23957430;24060861;24275569;24445538;24475247;24496003;24518094;24613930;24736082;25342631;25393796;25421750;25576301;25645385;25813404;25921060;26001147;26062823;26301689;26909942;26992070;27245569;27573755;27600516;27846572;27862975;27874193;28228285;28404650;28409418;28510447;28659337;28741662;28832583;28834231;28904123;29242379;29437277;29455642;29493099;29557506;29873274;30131584;30315122;30692217;30779550;30824121;31154438;31222486;31366041;31530632;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32461342;32488085;32502341;32897882;32938616;32983136;33592498;33691108;33717175;33968037;33981976;34019948;34087483;34171305;34229054;34357683;34472622;34509645;34725712;35051231;35251023;35580925;36010968;36241641;36284347;37217939;37938771;38253038;38665916;40596516;4130389;6022858;656444;7118399;7654687;7824924;7987009;8052601;8078941;8188258;8428657;8449960;8633037;9278442;9421509;9431993;9819383", "class_list": "", "function": "CARS is a novel fusion partner of anaplastic lymphoma kinase in anaplastic large-cell lymphoma and inflammatory myofibroblastic tumor cases., [RefSeq, PubMed]; CARS senses cysteine deprivation to activate AMPK for cell survival., [RefSeq, PubMed]; Catalyzes the ATP-dependent ligation of cysteine to tRNA(Cys)., [UniProtKB, PubMed, PubMed]; Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails., [RefSeq, PubMed]; Endogenous TLR2 ligand embedded in the catalytic region of human cysteinyl-tRNA synthetase 1., [RefSeq, PubMed]; Four single nucleotide polymorphisms (SNPs) of CARS were significantly associated with gastric cancer risk in both the discovery stage and the validation stage, [RefSeq, PubMed]; The risk (G and C) and non-risk (C and T) allele frequencies of the SNPs at the rs1888747 and rs739401 loci of FRMD3 and CARS, respectively, did not differ significantly between the diabetics with (case) and without (control) nephropathy (P > 0.05). Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a class 1 aminoacyl-tRNA synthetase, cysteinyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. This gene is one of several located near the imprinted gene domain on chromosome 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q53XI8;Q5HYE4;Q9HD24;Q9HD25", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "6.1.1.16", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.16", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0046872 metal ion binding;GO:0000049 tRNA binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006423 cysteinyl-tRNA aminoacylation", "synthesized_glycan_count": 0, "hit_score": 20.0, "record_id": "P49589-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96DR4-1", "uniprot_id": [ { "id": "STAR4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96DR4", "type": "external" } ], "mass": 23517.0, "length": 205, "protein_name": "StAR-related lipid transfer protein 4", "gene_name": "STARD4", "organism": "Human", "refseq_name": "stAR-related lipid transfer protein 4 isoform a", "refseq_ac": [ { "id": "NP_001294985", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294985", "type": "external" } ], "gene_names_uniprotkb": "STARD4", "gene_names_refseq": "STARD4", "protein_names_uniprotkb": "StAR-related lipid transfer protein 4; START domain-containing protein 4; StARD4", "protein_names_refseq": "START domain containing 4, sterol regulated; START domain-containing protein 4; StAR-related lipid transfer (START) domain containing 4; stAR-related lipid transfer protein 4 isoform a; stAR-related lipid transfer protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:134429); (R-HSA-196108)", "pathway_count": 2, "publication_count": 53, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12011452;15760897;16579971;18403318;18991276;21767660;22645359;25542846;25818881;25892735;26024233;26992070;28218747;28228285;28832583;28834231;28855257;28904123;29242379;29437277;29493099;29557506;29769354;29789417;2981667;3001071;3024157;30315122;31217245;31844290;32157095;32502341;32983136;33125124;33592498;33633747;33691108;33936100;33968037;34932366;34970895;35051231;35580925;35642354;36241641;38615744;38829257;8307574;8645003;9578606;9915832", "class_list": "", "function": "Cholesterol homeostasis is regulated, at least in part, by sterol regulatory element (SRE)-binding proteins (e.g., SREBP1; MIM 184756) and by liver X receptors (e.g., LXRA; MIM 602423). Upon sterol depletion, LXRs are inactive and SREBPs are cleaved, after which they bind promoter SREs and activate genes involved in cholesterol biosynthesis and uptake. Sterol transport is mediated by vesicles or by soluble protein carriers, such as steroidogenic acute regulatory protein (STAR; MIM 600617). STAR is homologous to a family of proteins containing a 200- to 210-amino acid STAR-related lipid transfer (START) domain, including STARD4 (Soccio et al., 2002 [PubMed 12011452]).[supplied by OMIM, Mar 2008]., [RefSeq]; Differential regulation of STARD1, STARD4 and STARD6 in the human ovary. Publication Status: Online-Only, [RefSeq, PubMed]; Induction of STARD4 depended on both transcription factor ATF6 and an ERSE-like element in its promoter., [RefSeq, PubMed]; Involved in the intracellular transport of cholesterol. Binds cholesterol or other sterols., [UniProtKB, PubMed]; Membrane specificity of the human cholesterol transfer protein STARD4., [RefSeq, PubMed]; SREBF2-STARD4 axis confers sorafenib resistance in hepatocellular carcinoma by regulating mitochondrial cholesterol homeostasis., [RefSeq, PubMed]; STARD4 promotes breast cancer cell malignancy., [RefSeq, PubMed]; StarD4 is regulated by sterols via SREBP-2, and StarD5 is activated by ER stress cholesterol metabolism; they serve different functions, [RefSeq, PubMed]; StarD4 plays an important role as a directional cholesterol transporter in the maintenance of cellular cholesterol homeostasis, [RefSeq, PubMed]; [Steroidogenic acute regulatory protein-related lipid transfer 4 (StarD4) promotes breast cancer cell proliferation and its mechanism]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 11, "reported_interactions": 0, "missing_score": 9696, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q86TN9", "ec_number_list": [], "go_molecular_function": "GO:0015485 cholesterol binding;GO:0120020 cholesterol transfer activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0070859 positive regulation of bile acid biosynthetic process;GO:0032367 intracellular cholesterol transport;GO:0070508 cholesterol import;GO:0090205 positive regulation of cholesterol metabolic process;GO:0010879 cholesterol transport involved in cholesterol storage", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q96DR4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N9U0-1", "uniprot_id": [ { "id": "TAC2N_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N9U0", "type": "external" } ], "mass": 55284.0, "length": 490, "protein_name": "Tandem C2 domains nuclear protein", "gene_name": "TC2N", "organism": "Human", "refseq_name": "tandem C2 domains nuclear protein isoform 1", "refseq_ac": [ { "id": "NP_001122067", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122067", "type": "external" } ], "gene_names_uniprotkb": "TC2N; C14orf47; MTAC2D1", "gene_names_refseq": "C14orf47; C2CD1; MTAC2D1; TAC2N; TC2N; Tac2-N", "protein_names_uniprotkb": "Tandem C2 domains nuclear protein; Membrane targeting tandem C2 domain-containing protein 1; Tac2-N; Tandem C2 protein in nucleus", "protein_names_refseq": "C2 calcium-dependent domain containing 1; membrane targeting (tandem) C2 domain containing 1; tandem C2 domains nuclear protein isoform 1; tandem C2 domains nuclear protein; tandem C2 protein in nucleus", "tax_id": 9606, "disease": "", "pathway": " (hsa:123036)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "11237011;18088087;21029358;23186163;25576301;26154972;26992070;28218747;28446606;28834231;29437277;29493099;29557506;29786170;30254375;30379171;31466523;32350084;34087483;34171305;34925334;35051231;35154160;35318648;35580925;37839635;38167440", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Study provided proof of principle to show that Tac2-N serves as a novel oncogene gene and plays an important role in the progression and metastasis of lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; TC2N Promotes Cell Proliferation and Metastasis in Hepatocellular Carcinoma by Targeting the Wnt/beta-Catenin Signaling Pathway., [RefSeq, PubMed]; TC2N inhibits distant metastasis and stemness of breast cancer via blocking fatty acid synthesis. Publication Status: Online-Only, [RefSeq, PubMed]; TC2N: A Novel Vital Oncogene or Tumor Suppressor Gene In Cancers. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The TC2N attenuates p53 signaling pathway through inhibiting Cdk5-induced phosphorylation of p53 via inducing Cdk5 degradation or disrupting the interaction between Cdk5 and p53., [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": 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": 3, "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": 3.1, "record_id": "Q8N9U0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IWU5-1", "uniprot_id": [ { "id": "SULF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IWU5", "type": "external" } ], "mass": 100455.0, "length": 870, "protein_name": "Extracellular sulfatase Sulf-2", "gene_name": "SULF2", "organism": "Human", "refseq_name": "extracellular sulfatase Sulf-2 isoform a precursor", "refseq_ac": [ { "id": "NP_001155313", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155313", "type": "external" } ], "gene_names_uniprotkb": "SULF2; KIAA1247; PRO1120", "gene_names_refseq": "HSULF-2; SULF2", "protein_names_uniprotkb": "Extracellular sulfatase Sulf-2; 3.1.6.14; 3.1.6.1; Arylsulfatase; N-acetylglucosamine-6-sulfatase; hSulf-2", "protein_names_refseq": "N-acetylglucosamine-6-sulfatase; arylsulfatase; extracellular sulfatase SULF-2; extracellular sulfatase Sulf-2 isoform a precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:55959)", "pathway_count": 1, "publication_count": 55, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12368295;12975309;16192265;16331886;16959974;19159218;20220067;23090970;23719902;24190977;27846572;27862975;27920218;28467828;28904123;29093164;29242379;29557506;29632046;29632711;29741879;29786170;29789417;30237853;30429286;30788513;31092671;31844290;31848261;32125861;32161166;32162841;32350084;32938616;32983136;33091337;33392160;33592498;33908819;33936100;34171305;34357683;35051231;35154160;35294879;35472437;35580925;36068294;37074911;37217939;37340703;38825040;40930100", "class_list": "glycogene", "function": "Exhibits arylsulfatase activity and highly specific endoglucosamine-6-sulfatase activity (PubMed:12368295, PubMed:30788513, PubMed:35294879). It can remove sulfate from the C-6 position of glucosamine within specific subregions of intact heparin (PubMed:12368295, PubMed:30788513, PubMed:35294879)., [UniProtKB, PubMed, PubMed, PubMed]; Extracellular sulfatase-2 is overexpressed in rheumatoid arthritis and mediates the TNF-alpha-induced inflammatory activation of synovial fibroblasts., [RefSeq, PubMed]; Extracellular sulfatases as potential blood-based biomarkers for early detection of lung cancer., [RefSeq, PubMed]; Galectin-3-Binding Protein Inhibits Extracellular Heparan 6-O-Endosulfatase Sulf-2., [RefSeq, PubMed]; HSulf-1 and HSulf-2 have roles in inhibiting myeloma tumor growth GeneRIF: HSulf-1 (SULF1) and HSulf-2 (SULF2) are potent inhibitors of myeloma tumor growth in vivo., [RefSeq, PubMed]; Heparan sulfate proteoglycans (HSPGs) act as coreceptors for numerous heparin-binding growth factors and cytokines and are involved in cell signaling. Heparan sulfate 6-O-endosulfatases, such as SULF2, selectively remove 6-O-sulfate groups from heparan sulfate. This activity modulates the effects of heparan sulfate by altering binding sites for signaling molecules (Dai et al., 2005 [PubMed 16192265]).[supplied by OMIM, Mar 2008]., [RefSeq]; Purified recombinant Sulf-2 promoted angiogenesis in the chick chorioallantoic membrane assay., [RefSeq, PubMed]; SULF2 enhances GDF15-SMAD axis to facilitate the initiation and progression of pancreatic cancer., [RefSeq, PubMed]; Sulfs are extracellular endosulfatases with strong potential for modulating the interactions of heparan sulfate proteoglycans in the extracellular microenvironment, [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": 7, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 7, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 7, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 7, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 1047, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 20, "disease_count": 0, "glyco_site_count": 16, "binding_glycan_count": 0, "secondary_ac_list": "E1P5U6;Q5JYE1;Q6UX86;Q96SG2;Q9H1H0;Q9UJR3;Q9ULH3", "ec_number_list": [ { "id": "3.1.6.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.1", "type": "external" }, { "id": "3.1.6.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.18", "type": "external" }, { "id": "3.1.6.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.14", "type": "external" }, { "id": "3.1.6.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.15", "type": "external" } ], "go_molecular_function": "GO:0008449 N-acetylglucosamine-6-sulfatase activity;GO:0005509 calcium ion binding;GO:0004065 arylsulfatase activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0030201 heparan sulfate proteoglycan metabolic process;GO:0060384 innervation;GO:0014846 esophagus smooth muscle contraction;GO:0035860 glial cell-derived neurotrophic factor receptor signaling pathway;GO:0001822 kidney development", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "Q8IWU5-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1100000010000.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2K9-1", "uniprot_id": [ { "id": "STB5L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2K9", "type": "external" } ], "mass": 131887.0, "length": 1186, "protein_name": "Syntaxin-binding protein 5-like", "gene_name": "STXBP5L", "organism": "Human", "refseq_name": "syntaxin-binding protein 5-like isoform 1", "refseq_ac": [ { "id": "NP_001335272", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001335272", "type": "external" } ], "gene_names_uniprotkb": "STXBP5L; KIAA1006; LLGL4", "gene_names_refseq": "LLGL4; STXBP5L", "protein_names_uniprotkb": "Syntaxin-binding protein 5-like; Lethal(2) giant larvae protein homolog 4; Tomosyn-2", "protein_names_refseq": "lethal(2) giant larvae protein homolog 4; syntaxin binding protein 5 like; syntaxin-binding protein 5-like isoform 1; tomosyn-2; tomosyn-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:9515)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "11237011;14767561;19586676;23223146;25504045;25880248;28832583;29393594;29557506;30315122;32157095;32357974;32387766;32938616;32983136;33091337;33298915;33592498;33912179;33968037;34509645;34932366;35051231;35580925;37054626", "class_list": "", "function": "Homozygous mutation of STXBP5L is associated with autosomal recessive infantile-onset neurodegenerative disorder. GeneRIF: A homozygous nonsynonymous mutation in STXBP5L (c.3127G>A, p.Val1043Ile [CCDS43137.1]) was implicated in an infantile-onset neurodegenerative disorder manifesting a predominant sensorimotor axonal neuropathy, optic atrophy and cognitive deficit., [RefSeq, PubMed]; In skin aging rs322458, was in linkage disequilibrium (LD) with intronic single nucleotide polymorphisms of the STXBP5L gene, which is expressed in the skin., [RefSeq, PubMed]; Novel genetic variants linked to prelabor rupture of membranes among Chinese pregnant women., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Plays a role in vesicle trafficking and exocytosis inhibition. In pancreatic beta-cells, inhibits insulin secretion probably by interacting with and regulating STX1A and STX4, key t-SNARE proteins involved in the fusion of insulin granules to the plasma membrane. Also plays a role in neurotransmitter release by inhibiting basal acetylcholine release from axon terminals and by preventing synaptic fatigue upon repetitive stimulation (By similarity). Promotes as well axonal outgrowth (PubMed:25504045)., [UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene is similar to syntaxin-binding protein 5 and contains ten N-terminal WD40 repeats, four variable region WD40 repeats, and a C-terminal R-SNARE domain. Studies of the orthologous proteins in mouse and rat have shown that the encoded protein may inhibit exocytosis in neurosecretory cells, and may negatively regulate the secretion of insulin. A missense variant in this gene is likely the cause of an infantile-onset neurodegenerative disorder diagnosed in two siblings of consanguineous parents. [provided by RefSeq, Jan 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 18, "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": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q4G1B4;Q6PIC3", "ec_number_list": [], "go_molecular_function": "GO:0045159 myosin II binding;GO:0005096 GTPase activator activity;GO:0019905 syntaxin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0098992 neuronal dense core vesicle;GO:0031594 neuromuscular junction", "go_biological_process": "GO:0015031 protein transport;GO:0006887 exocytosis;GO:0006893 Golgi to plasma membrane transport;GO:2000300 regulation of synaptic vesicle exocytosis", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q9Y2K9-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BQE3-1", "uniprot_id": [ { "id": "TBA1C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BQE3", "type": "external" } ], "mass": 49895.0, "length": 449, "protein_name": "Tubulin alpha-1C chain", "gene_name": "TUBA1C", "organism": "Human", "refseq_name": "tubulin alpha-1C chain isoform c", "refseq_ac": [ { "id": "NP_116093", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_116093", "type": "external" } ], "gene_names_uniprotkb": "TUBA1C; TUBA6", "gene_names_refseq": "OZEMA24; TUBA1C; TUBA6; bcm948", "protein_names_uniprotkb": "Tubulin alpha-1C chain; 3.6.5.-; Alpha-tubulin 6; Tubulin alpha-6 chain", "protein_names_refseq": "alpha-tubulin 6; tubulin alpha-1C chain isoform c; tubulin alpha-1C chain; tubulin alpha-6 chain; tubulin, alpha 6", "tax_id": 9606, "disease": "lissencephaly (Disease Ontology:DOID:0050453); polymicrogyria (Disease Ontology:DOID:0080918); lissencephaly 3 (Disease Ontology:DOID:0112232); microlissencephaly (Disease Ontology:DOID:0112234); oocyte/zygote/embryo maturation arrest 24 (MONDO:MONDO:0979232)", "pathway": " (hsa:84790); (R-HSA-1445148); (R-HSA-190840); (R-HSA-190861); (R-HSA-2132295); 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"class_list": "", "function": "TUBA1C expression promotes proliferation by regulating the cell cycle and indicates poor prognosis in glioma., [RefSeq, PubMed]; TUBA1C: a new potential target of LncRNA EGFR-AS1 promotes gastric cancer progression. Publication Status: Online-Only, [RefSeq, PubMed]; Tektin4 loss promotes triple-negative breast cancer metastasis through HDAC6-mediated tubulin deacetylation and increases sensitivity to HDAC6 inhibitor., [RefSeq, PubMed]; The oncogenic role of tubulin alpha-1c chain in human tumours. Publication Status: Online-Only, [RefSeq, PubMed]; Tubulin alpha 1c promotes aerobic glycolysis and cell growth through upregulation of yes association protein expression in breast cancer., [RefSeq, PubMed]; Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin., [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": 18, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 18, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 18, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 18, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "6.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.-", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "5.6.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.3", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "3.1.3.16", "url": 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"https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "2.3.1.108", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.108", "type": "external" }, { "id": "3.4.17.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.-", "type": "external" }, { "id": "3.4.17.24", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.24", "type": "external" }, { "id": "3.4.17.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.17", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "6.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.25", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.1.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.-", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.124", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.124", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "6.-.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.-.-.-", "type": "external" }, { "id": "5.6.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.1", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" } ], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0005525 GTP binding;GO:0016787 hydrolase activity;GO:0046872 metal ion binding;GO:0005198 structural molecule activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005874 microtubule;GO:0005929 cilium;GO:0015630 microtubule cytoskeleton", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0051301 cell division;GO:0030182 neuron differentiation;GO:0000226 microtubule cytoskeleton organization;GO:0030705 cytoskeleton-dependent intracellular transport", "synthesized_glycan_count": 0, "hit_score": 83.6, "record_id": "Q9BQE3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NY57-1", "uniprot_id": [ { "id": "ST32B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NY57", "type": "external" } ], "mass": 47883.0, "length": 414, "protein_name": "Serine/threonine-protein kinase 32B", "gene_name": "STK32B", "organism": "Human", "refseq_name": "serine/threonine-protein kinase 32B isoform 2", "refseq_ac": [ { "id": "NP_001293011", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001293011", "type": "external" } ], "gene_names_uniprotkb": "STK32B; PRO9744; YANK2", "gene_names_refseq": "HSA250839; STK32B; STK32; STKG6; YANK2", "protein_names_uniprotkb": "Serine/threonine-protein kinase 32B; 2.7.11.1; Yet another novel kinase 2", "protein_names_refseq": "gene for serine/threonine protein kinase; serine/threonine-protein kinase 32B isoform 2; yet another novel kinase 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:55351)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "10700184;11237011;12471243;12975309;17344846;18454448;19240061;20087401;27797806;28228285;28801652;29604450;30315122;31844290;32157095;36929462;38714727", "class_list": "", "function": "Association Analysis of 27 Single Nucleotide Polymorphisms in a Chinese Population with Essential Tremor., [RefSeq, PubMed]; C allele of rs10937625 in STK32B is a protective factor for essential tremor in Chinese population. Publication Status: Online-Only, [RefSeq, PubMed]; In a consanguineous pedigree diagnosed with EvC and borderline intelligence, a 520-kb homozygous deletion comprising EVC, EVC2, C4orf6, and STK32B, caused by recombination between LINE-1 elements, was detected, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; STK32B and EVC yielded consistent evidence from cleft lip, with or without cleft palate, trios in all four populations. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; STK32B association with essential tremor., [RefSeq, PubMed]; This gene encodes a serine-threonine protein kinase. Serine-threonine kinases transfer phosphate molecules to the oxygen atoms of serine and threonine. A genomic deletion affecting this gene has been associated with Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]., [RefSeq]; This results of this study provided evidence that shifts in DNA methylation within the STK32B promoter are associated with a modulated risk profile for generalized anxiety disorder in adolescence., [RefSeq, PubMed]; YANK2 activated by Fyn promotes glioma tumorigenesis via the mTOR-independent p70S6K activation 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": 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": "Q6UXH3;Q8IY14", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "", "go_biological_process": "GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q9NY57-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HAC7-1", "uniprot_id": [ { "id": "SUCHY_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HAC7", "type": "external" } ], "mass": 47708.0, "length": 438, "protein_name": "Succinyl-CoA:glutarate CoA-transferase", "gene_name": "SUGCT", "organism": "Human", "refseq_name": "succinyl-CoA:glutarate CoA-transferase isoform 1", "refseq_ac": [ { "id": "NP_001180240", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180240", "type": "external" } ], "gene_names_uniprotkb": "SUGCT; C7orf10; DERP13", "gene_names_refseq": "C7orf10; DERP13; GA3; ORF19; SUGCT", "protein_names_uniprotkb": "Succinyl-CoA:glutarate CoA-transferase; 2.8.3.-; 2.8.3.13; Dermal papilla-derived protein 13; Dicarboxyl-CoA:dicarboxylic acid coenzyme A transferase SUGCT; Succinate--hydroxymethylglutarate CoA-transferase", "protein_names_refseq": "Russel-Silver syndrome candidate; dermal papilla-derived protein 13; dicarboxyl-CoA:dicarboxylic acid coenzyme A transferase SUGCT; succinate--hydroxymethylglutarate CoA-transferase; succinyl-CoA:glutarate CoA-transferase isoform 1; succinylCoA:glutarate-CoA transferase", "tax_id": 9606, "disease": "glutaric acidemia type 3 (Disease Ontology:DOID:0112246)", "pathway": " (hsa:79783)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;11829489;18926513;19880432;19913121;20628086;20877624;22277967;23893049;29421601;33483254;34105348;34492704;38915184", "class_list": "", "function": "Chromosome microarray analysis showed a 125kb homozygous pathogenic deletion, which includes genes MPLKIP and SUGCT, not described before. This is the first case described in Peru of a novel contiguous gene deletion of Trichothiodystrophy type 4 and Glutaric aciduria type 3 performed by chromosome microarray analysis., [RefSeq, PubMed]; Coenzyme A (CoA) transferase that reversibly catalyzes the transfer of a CoA moiety from a dicarboxyl-CoA to a dicarboxylate in a metabolite recycling process. Displays preference for succinyl-CoA and glutarate-CoA as dicarboxyl-CoA donors and glutarate, succinate, adipate/hexanedioate, itaconate and 3-hydroxy-3-methylglutarate as dicarboxylate acceptors (PubMed:23893049, PubMed:34492704, PubMed:38915184). Acts on intermediates or end products of lysine and tryptophan degradation pathway, in particular catalyzes succinyl-CoA-dependent reesterification of free glutarate into glutaryl-CoA to prevent renal excretion of glutarate (PubMed:18926513, PubMed:23893049, PubMed:38915184). Upon inflammation, may convert macrophage-derived itaconate to itaconyl-CoA in erythroid precursors where it negatively regulates the TCA cycle and heme synthesis to limit erythroid differentiation in the context of stress erythropoiesis (PubMed:34492704)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Geneic mapping of GA3 to chromosome 7 and identification of mutations in c7orf10 are reported., [RefSeq, PubMed]; Glutaric aciduria type 3 is a naturally occurring biochemical trait in inbred mice of 129 substrains., [RefSeq, PubMed]; Identified as a candidate disease gene for OXPHOS disorders by next-generation sequencing, [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]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that is similar to members of the CaiB/baiF CoA-transferase protein family. Mutations in this gene are associated with glutaric aciduria type III. Alternate splicing results in multiple transcript variants. [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": 0, "reported_mutagensis": 1, "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": "A4D1W5;B4DJF0;B4DR73;Q4KMW4;Q4KMW8;Q4KMZ0;Q8TE00;Q8TEY1", "ec_number_list": [ { "id": "2.8.3.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.3.13", "type": "external" }, { "id": "2.8.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.3.-", "type": "external" } ], "go_molecular_function": "GO:0047369 succinate-hydroxymethylglutarate CoA-transferase activity", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q9HAC7-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94967-1", "uniprot_id": [ { "id": "WDR47_HUMAN", "url": "https://www.uniprot.org/uniprot/O94967", "type": "external" } ], "mass": 101949.0, "length": 919, "protein_name": "WD repeat-containing protein 47", "gene_name": "WDR47", "organism": "Human", "refseq_name": "WD repeat-containing protein 47 isoform 1", "refseq_ac": [ { "id": "NP_001136022", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136022", "type": "external" } ], "gene_names_uniprotkb": "WDR47; KIAA0893", "gene_names_refseq": "WDR47", "protein_names_uniprotkb": "WD repeat-containing protein 47; Nemitin; Neuronal enriched MAP-interacting protein", "protein_names_refseq": "WD repeat-containing protein 47 isoform 1; WD repeat-containing protein 47; nemitin; neuronal enriched MAP-interacting protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:22911)", "pathway_count": 1, "publication_count": 57, "publication_id_list": "10.1101/2023.09.13.557529;11237011;18220336;18669648;20068231;23186163;23301498;24714562;24715725;25576301;25892735;26154972;26992070;27846572;27920218;28218747;28832583;28834231;28855257;28904123;29242379;29437277;29508533;29557506;29769354;29786170;30315122;30410026;30429286;31154438;31844290;31848261;32157095;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33592498;33691108;33717175;33912179;33968037;33981976;34171305;34432492;34509645;34561969;35051231;35318648;35580925;36010968;36241641;36284347;37217939", "class_list": "", "function": "RUSC2 and WDR47 oppositely regulate kinesin-1-dependent distribution of ATG9A to the cell periphery., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8MX09;Q5TYV7;Q5TYV8;Q5TYV9;Q8IXT7;Q8IYU9", "ec_number_list": [], "go_molecular_function": "GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005874 microtubule;GO:0030425 dendrite;GO:0030426 growth cone;GO:0044297 cell body", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "O94967-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P43308-1", "uniprot_id": [ { "id": "SSRB_HUMAN", "url": "https://www.uniprot.org/uniprot/P43308", "type": "external" } ], "mass": 20135.0, "length": 183, "protein_name": "Translocon-associated protein subunit beta", "gene_name": "SSR2", "organism": "Human", "refseq_name": "translocon-associated protein subunit beta precursor", "refseq_ac": [ { "id": "NP_003136", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003136", "type": "external" } ], "gene_names_uniprotkb": "SSR2; HSD25; TRAPB", "gene_names_refseq": "HSD25; SSR2; TLAP; TRAP-BETA; TRAPB", "protein_names_uniprotkb": "Translocon-associated protein subunit beta; SSR-beta; Signal sequence receptor subunit beta; TRAP-beta", "protein_names_refseq": "SSR-beta; signal sequence receptor subunit beta; signal sequence receptor, beta (translocon-associated protein beta); translocon-associated protein beta; translocon-associated protein subunit beta precursor; translocon-associated protein subunit beta", "tax_id": 9606, "disease": "", "pathway": " (hsa:6746); (R-HSA-1799339)", "pathway_count": 2, "publication_count": 87, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11964406;12754519;12853463;16469117;18166647;18455985;18724357;19159218;20444697;23481700;24190977;25418920;25576301;25645385;26154972;26811146;26992070;27180333;27600516;28218747;28510447;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29557506;29632711;29741879;29786170;30059200;30315122;30410026;30429286;30524438;30779550;31092671;31154438;31217245;31611695;31844290;31848261;31937595;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33137310;33141586;33392160;33717175;33936100;33968037;33981976;34171305;34357683;34405274;34509645;34846842;35051231;35251023;35254053;35289036;35318648;35580925;36010968;36215666;36241641;36284347;36697828;37074911;37938771;39534244;7789174;8286409;9631292", "class_list": "", "function": "TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins., [UniProtKB, UniProtKB, UniProtKB]; The Unfolded Protein Response (UPR) to ER stress was shown as an inducer of SSR2 via transcriptional regulation through X-Box Binding Protein 1s (XBP1s)., [RefSeq, PubMed]; The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD glycoprotein (alpha-SSR or SSR1) and a 22-kD glycoprotein (beta-SSR or SSR2). The human beta-signal sequence receptor gene (SSR2) maps to chromosome bands 1q21-q23. [provided by RefSeq, Jul 2008]., [RefSeq]; Translocon-Associated Protein Complex (TRAP) is Crucial for Co-Translational Translocation of Pre-Proinsulin., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 24, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B2R9K9;D3DVA7;Q53HI0;Q5VY95;Q5VY96;Q6IB31;Q9BWE4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006613 cotranslational protein targeting to membrane;GO:0031204 post-translational protein targeting to membrane, translocation", "synthesized_glycan_count": 0, "hit_score": 12.0, "record_id": "P43308-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P37108-1", "uniprot_id": [ { "id": "SRP14_HUMAN", "url": "https://www.uniprot.org/uniprot/P37108", "type": "external" } ], "mass": 14570.0, "length": 136, "protein_name": "Signal recognition particle 14 kDa protein", "gene_name": "SRP14", "organism": "Human", "refseq_name": "signal recognition particle 14 kDa protein isoform 1", "refseq_ac": [ { "id": "NP_003125", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003125", "type": "external" } ], "gene_names_uniprotkb": "SRP14", "gene_names_refseq": "ALURBP; SRP14", "protein_names_uniprotkb": "Signal recognition particle 14 kDa protein; 18 kDa Alu RNA-binding protein; SRP14", "protein_names_refseq": "18 kDa Alu RNA-binding protein; homologous Alu RNA binding protein; signal recognition particle 14 kDa protein isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:6727); (R-HSA-1799339); (R-HSA-6798695)", "pathway_count": 3, "publication_count": 125, "publication_id_list": "11089964;11237011;11964406;12853463;16469117;18166647;18455985;19054851;20112406;20444697;21740066;22223895;23555621;23650620;24275569;24714562;25469497;25502872;25576301;25645385;26154972;26768311;26992070;27114449;27452731;27600516;27846572;27862975;28063628;28218747;28446606;28467828;28510447;28514659;28832583;28834231;28855257;28871256;28904123;29242379;29314611;29393594;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30192525;30315122;30379171;30410026;30429286;30484775;30524438;30573663;30620550;30779550;30833945;31217245;31222486;31373491;31530632;31611695;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33091337;33141586;33214551;33298915;33392160;33592498;33691108;33717175;33936100;33968037;33981976;34019948;34020957;34087483;34171305;34211107;34229054;34357683;34509645;34725712;34932366;35051231;35138101;35154160;35251023;35254053;35289036;35318648;35580925;36010968;36215666;36241641;36284347;36580660;37217939;37340703;37938771;38665916;39183055;40596516;7542942;8196634;8692836;9631292", "class_list": "", "function": "Component of the signal recognition particle (SRP) complex, a ribonucleoprotein complex that mediates the cotranslational targeting of secretory and membrane proteins to the endoplasmic reticulum (ER) (PubMed:11089964). SRP9 together with SRP14 and the Alu portion of the SRP RNA, constitutes the elongation arrest domain of SRP (PubMed:11089964). The complex of SRP9 and SRP14 is required for SRP RNA binding (PubMed:11089964)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Expression of signal recognition particle 14 in hepatocellular carcinoma and its relationship with disease progression and patient 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": 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": 12, "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": "B5BUF5;Q6B0K5;Q96Q14", "ec_number_list": [], "go_molecular_function": "GO:0030942 endoplasmic reticulum signal peptide binding;GO:0003723 RNA binding;GO:0008312 7S RNA binding", "go_cellular_component": "GO:0005786 signal recognition particle, endoplasmic reticulum targeting;GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006613 cotranslational protein targeting to membrane;GO:0045047 protein targeting to ER;GO:0006617 SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition;GO:0006614 SRP-dependent cotranslational protein targeting to membrane", "synthesized_glycan_count": 0, "hit_score": 13.2, "record_id": "P37108-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15569-1", "uniprot_id": [ { "id": "TESK1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15569", "type": "external" } ], "mass": 67684.0, "length": 626, "protein_name": "Dual specificity testis-specific protein kinase 1", "gene_name": "TESK1", "organism": "Human", "refseq_name": "dual specificity testis-specific protein kinase 1 isoform 2", "refseq_ac": [ { "id": "NP_001305159", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305159", "type": "external" } ], "gene_names_uniprotkb": "TESK1", "gene_names_refseq": "TESK1", "protein_names_uniprotkb": "Dual specificity testis-specific protein kinase 1; 2.7.12.1; Testicular protein kinase 1", "protein_names_refseq": "dual specificity testis-specific protein kinase 1 isoform 2; dual specificity testis-specific protein kinase 1; testicular protein kinase 1; testis-specific kinase 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:7016); (R-HSA-446388)", "pathway_count": 2, "publication_count": 33, "publication_id_list": "10207045;11555644;12027893;12499396;15005707;15159419;15584898;15817463;16959974;17344846;17974561;18216281;18436335;20237496;25849865;26992070;27862975;28218747;28904123;29393594;29396473;29437277;29632046;30115939;30315122;31217245;31844290;31848261;32502341;33912179;33968037;35051231;8537404", "class_list": "", "function": "Actin remodelling factor TESK1 is a key player in the ciliogenesis control network in which YAP/TAZ and directional vesicle trafficking are integral components. Publication Status: Online-Only, [RefSeq, PubMed]; Dual specificity protein kinase activity catalyzing autophosphorylation and phosphorylation of exogenous substrates on both serine/threonine and tyrosine residues (By similarity). Regulates the cellular cytoskeleton by enhancing actin stress fiber formation via phosphorylation of cofilin and by preventing microtubule breakdown via inhibition of TAOK1/MARKK kinase activity (By similarity). Inhibits podocyte motility via regulation of actin cytoskeletal dynamics and phosphorylation of CFL1 (By similarity). Positively regulates integrin-mediated cell spreading, via phosphorylation of cofilin (PubMed:15584898). Suppresses ciliogenesis via multiple pathways; phosphorylation of CFL1, suppression of ciliary vesicle directional trafficking to the ciliary base, and by facilitating YAP1 nuclear localization where it acts as a transcriptional corepressor of the TEAD4 target genes AURKA and PLK1 (PubMed:25849865). Probably plays a central role at and after the meiotic phase of spermatogenesis (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; Enhanced TESK1 activity results in increased stress fibers (via phospho-cofilin), but this can be blocked by elevating Spred1, [RefSeq, PubMed]; In conclusion, deregulation of cytoskeleton dynamics through TESK1/CFL1 pathway underlies epithelial intestinal dysfunction in the small bowel mucosa of diarrhea-predominant irritable bowel syndrome, particularly in female patients. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene product is a serine/threonine protein kinase that contains an N-terminal protein kinase domain and a C-terminal proline-rich domain. Its protein kinase domain is most closely related to those of the LIM motif-containing protein kinases (LIMKs). The encoded protein can phosphorylate myelin basic protein and histone in vitro. The testicular germ cell-specific expression and developmental pattern of expression of the mouse gene suggests that this gene plays an important role at and after the meiotic phase of spermatogenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]., [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": 1, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q8IXZ8", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0004713 protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0019901 protein kinase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0030027 lamellipodium", "go_biological_process": "GO:1902018 negative regulation of cilium assembly;GO:0007283 spermatogenesis;GO:0032956 regulation of actin cytoskeleton organization;GO:0030036 actin cytoskeleton organization;GO:0032880 regulation of protein localization", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q15569-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16514-1", "uniprot_id": [ { "id": "TAF12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16514", "type": "external" } ], "mass": 17924.0, "length": 161, "protein_name": "Transcription initiation factor TFIID subunit 12", "gene_name": "TAF12", "organism": "Human", "refseq_name": "transcription initiation factor TFIID subunit 12 isoform 1", "refseq_ac": [ { "id": "NP_001128690", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128690", "type": "external" } ], "gene_names_uniprotkb": "TAF12; TAF15; TAF2J; TAFII20", "gene_names_refseq": "TAF12; TAF2J; TAFII20", "protein_names_uniprotkb": "Transcription initiation factor TFIID subunit 12; TAFII-20/TAFII-15; TAFII20/TAFII15; Transcription initiation factor TFIID 20/15 kDa subunits", "protein_names_refseq": "TAF12 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 20kDa; TAFII-20/TAFII-15; TAFII20/TAFII15; TATA box binding protein (TBP)-associated factor, RNA polymerase II, J, 20kD; transcription initiation factor TFIID 20/15 kDa subunits; transcription initiation factor TFIID subunit 12 isoform 1; transcription initiation factor TFIID subunit 12", "tax_id": 9606, "disease": "", "pathway": " (hsa:6883); (R-HSA-167161); (R-HSA-167162); (R-HSA-167172); (R-HSA-3214847); (R-HSA-674695); (R-HSA-6804756); (R-HSA-73776); (R-HSA-73779); (R-HSA-75953); (R-HSA-76042)", "pathway_count": 11, "publication_count": 125, "publication_id_list": "10024882;10199401;10373431;10435622;10500146;10570149;10594036;10604467;10673500;10673501;10710310;10723029;10786633;10821277;10884347;11237011;11239457;11433015;11447225;11486021;11511362;11546806;11551930;11564863;11739720;11740489;11780126;11784853;11859374;11884399;12064478;12393879;12676794;12702766;12851404;12914926;1310361;14702041;15053879;15313887;15489290;15735663;15866171;16322561;16387653;17081983;17108107;17349958;17591690;18381289;18452278;18490454;18623064;18669648;18691976;19007248;19121998;19187765;1939271;19651622;19664994;19965871;20018852;20058876;20068231;20959462;21317932;23000554;23186163;23485397;23676219;24145406;24275569;2449431;24874608;25576301;26154972;27846572;28218747;28832583;28855257;29316427;29437277;29508533;29557506;29632711;30379171;30429286;31844290;32157095;32488085;32502341;32938616;32983136;33795473;33968037;34171305;35580925;40596516;7151173;7601352;7660122;7660129;7660130;7729427;8156590;8330735;8370526;8465201;8490964;8598932;8647459;8663456;8946909;9256425;9353262;9405375;9427644;9450929;9489704;9558366;9674425;9880483;9885574;9925639", "class_list": "", "function": "Control of transcription by RNA polymerase II involves the basal transcription machinery which is a collection of proteins. These proteins with RNA polymerase II, assemble into complexes which are modulated by transactivator proteins that bind to cis-regulatory elements located adjacent to the transcription start site. Some modulators interact directly with the basal complex, whereas others may act as bridging proteins linking transactivators to the basal transcription factors. Some of these associated factors are weakly attached while others are tightly associated with TBP in the TFIID complex. Among the latter are the TAF proteins. Different TAFs are predicted to mediate the function of distinct transcriptional activators for a variety of gene promoters and RNA polymerases. TAF12 interacts directly with TBP as well as with TAF2I. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2008]., [RefSeq]; Ectopic expression of the TAF4 histone-fold fragment can efficiently squelch TAF12 in cells, [RefSeq, PubMed]; The TFIID basal transcription factor complex plays a major role in the initiation of RNA polymerase II (Pol II)-dependent transcription (PubMed:33795473). TFIID recognizes and binds promoters with or without a TATA box via its subunit TBP, a TATA-box-binding protein, and promotes assembly of the pre-initiation complex (PIC) (PubMed:33795473). The TFIID complex consists of TBP and TBP-associated factors (TAFs), including TAF1, TAF2, TAF3, TAF4, TAF5, TAF6, TAF7, TAF8, TAF9, TAF10, TAF11, TAF12 and TAF13 (PubMed:33795473). Component of the TATA-binding protein-free TAF complex (TFTC), the PCAF histone acetylase complex and the STAGA transcription coactivator-HAT complex (PubMed:10373431, PubMed:7729427, PubMed:8598932, PubMed:8663456, PubMed:9674425, PubMed:9885574)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 3, "reported_glycation": 0, "reported_snv": 2, "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": "D3DPM5;Q15775;Q5T077", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003713 transcription coactivator activity;GO:0046982 protein heterodimerization activity;GO:0017025 TBP-class protein binding;GO:0140297 DNA-binding transcription factor binding", "go_cellular_component": "GO:0033276 transcription factor TFTC complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005669 transcription factor TFIID complex;GO:0000124 SAGA 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:0006355 regulation of DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 12.9, "record_id": "Q16514-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75841-1", "uniprot_id": [ { "id": "UPK1B_HUMAN", "url": "https://www.uniprot.org/uniprot/O75841", "type": "external" } ], "mass": 29643.0, "length": 260, "protein_name": "Uroplakin-1b", "gene_name": "UPK1B", "organism": "Human", "refseq_name": "uroplakin-1b", "refseq_ac": [ { "id": "NP_008883", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008883", "type": "external" } ], "gene_names_uniprotkb": "UPK1B; TSPAN20", "gene_names_refseq": "TSPAN20; UPIB; UPK1B; UPK1", "protein_names_uniprotkb": "Uroplakin-1b; Tetraspanin-20; Tspan-20; UP1b; UPIb; Uroplakin Ib", "protein_names_refseq": "UP1b; tetraspanin-20; tetraspan; tspan-20; uroplakin Ib; uroplakin-1b", "tax_id": 9606, "disease": "", "pathway": " (hsa:7348)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;24559587;25892735;30229818;33275221;36284347;37074911;38114532;9073521;9818021;9846985;9935153", "class_list": "", "function": "Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cytoskeletal interactions (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; KRT13 and UPK1B for differential diagnosis between metastatic lung carcinoma from oral squamous cell carcinoma and lung squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; NAA10 promotes proliferation of renal cell carcinoma by upregulating UPK1B., [RefSeq, PubMed]; The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is found in the asymmetrical unit membrane (AUM) where it can form a complex with other transmembrane 4 superfamily proteins. It may play a role in normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cytoskeletal interactions. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; UPK1B is up-regulated in bladder cancer and is significantly correlated with tumor stage, lymph node metastasis and poor prognosis., [RefSeq, PubMed]; Urine UPIb levels may be useful for predicting the risk of recurrent urinary tract infections in patients diagnosed with their first UTI and may also be considered as a noninvasive screening test for vesicoureteral reflux., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 9, "reported_interactions": 0, "missing_score": 9562, "biomarker_type": "", "glycan_count": 9, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "O60753;Q9UIM2;Q9UNX6", "ec_number_list": [], "go_molecular_function": "GO:0005198 structural molecule activity", "go_cellular_component": "GO:0120001 apical plasma membrane urothelial plaque;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0030855 epithelial cell differentiation", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "O75841-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IW00-1", "uniprot_id": [ { "id": "VSTM4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IW00", "type": "external" } ], "mass": 36146.0, "length": 320, "protein_name": "V-set and transmembrane domain-containing protein 4", "gene_name": "VSTM4", "organism": "Human", "refseq_name": "V-set and transmembrane domain-containing protein 4 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001026916", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026916", "type": "external" } ], "gene_names_uniprotkb": "VSTM4; C10orf72", "gene_names_refseq": "C10orf72; VSTM4", "protein_names_uniprotkb": "V-set and transmembrane domain-containing protein 4", "protein_names_refseq": "V-set and transmembrane domain-containing protein 4 isoform 1 precursor; V-set and transmembrane domain-containing protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:196740)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "10.1101/2023.09.13.557529;16385451;16959974;24715725;30429286;30484775;31844290;32488085;32938616;33141586;35051231;37217939", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Peptide Lv enhances L-type voltage-gated calcium channel (L-VGCC) currents in retinal photoreceptors., [UniProtKB, 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": 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": 19, "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": "B4DNI6;Q96MX7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q8IW00-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15061-1", "uniprot_id": [ { "id": "SYNEM_HUMAN", "url": "https://www.uniprot.org/uniprot/O15061", "type": "external" } ], "mass": 172868.0, "length": 1565, "protein_name": "Synemin", "gene_name": "SYNM", "organism": "Human", "refseq_name": "synemin isoform B", "refseq_ac": [ { "id": "NP_056101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056101", "type": "external" } ], "gene_names_uniprotkb": "SYNM; DMN; KIAA0353; SYN", "gene_names_refseq": "DMN; SYNM; SYN", "protein_names_uniprotkb": "Synemin; Desmuslin", "protein_names_refseq": "desmuslin; synemin alpha; synemin beta; synemin isoform B; synemin, intermediate filament protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:23336)", "pathway_count": 1, "publication_count": 44, "publication_id_list": "11237011;11353857;11454237;11737198;12669240;14552890;16777071;17081983;18028034;18212344;18342854;18669648;18691976;19415658;19691289;20068231;20166139;23186163;23481700;24275569;25645385;25892735;27600516;28832583;29242379;29393594;29786170;30059200;30276801;30429286;31154438;31222486;31461342;31492838;31848261;32265295;32387766;32897882;33019757;35260532;35361267;35769011;36284347;39302247", "class_list": "", "function": "A novel heterozygous missense mutation p.(Trp538Arg) of SYNM was identified and cosegregated with the affected members in a Chinese family, [RefSeq, PubMed]; A risk model of gene signatures for predicting platinum response and survival in ovarian cancer. Publication Status: Online-Only, [RefSeq, PubMed]; C-Abl Tyrosine Kinase Is Regulated Downstream of the Cytoskeletal Protein Synemin in Head and Neck Squamous Cell Carcinoma Radioresistance and DNA Repair. Publication Status: Online-Only, [RefSeq, PubMed]; Expression of the intermediate filament protein synemin in myofibrillar myopathies and other muscle diseases., [RefSeq, PubMed]; Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3., [RefSeq, PubMed]; Synemin is a target of myocardin family coactivators., [RefSeq, PubMed]; Synemin promotes pulmonary artery smooth muscle cell phenotypic switch in shunt-induced pulmonary arterial hypertension., [RefSeq, PubMed]; The protein encoded by this gene is an intermediate filament (IF) family member. IF proteins are cytoskeletal proteins that confer resistance to mechanical stress and are encoded by a dispersed multigene family. This protein has been found to form a linkage between desmin, which is a subunit of the IF network, and the extracellular matrix, and provides an important structural support in muscle. Two alternatively spliced variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Type-VI intermediate filament (IF) which plays an important cytoskeletal role within the muscle cell cytoskeleton. It forms heteromeric IFs with desmin and/or vimentin, and via its interaction with cytoskeletal proteins alpha-dystrobrevin, dystrophin, talin-1, utrophin and vinculin, is able to link these heteromeric IFs to adherens-type junctions, such as to the costameres, neuromuscular junctions, and myotendinous junctions within striated muscle cells., [UniProtKB, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 19, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A7E2Y2;Q2TBJ4;Q5NJJ9;Q8TE61;Q8TE62", "ec_number_list": [], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0008307 structural constituent of muscle;GO:0017166 vinculin binding;GO:0019215 intermediate filament binding", "go_cellular_component": "GO:0005912 adherens junction;GO:0005882 intermediate filament;GO:0042383 sarcolemma;GO:0045111 intermediate filament cytoskeleton;GO:0043034 costamere", "go_biological_process": "GO:0045104 intermediate filament cytoskeleton organization;GO:0031443 fast-twitch skeletal muscle fiber contraction", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "O15061-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NUV7-1", "uniprot_id": [ { "id": "SPTC3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NUV7", "type": "external" } ], "mass": 62049.0, "length": 552, "protein_name": "Serine palmitoyltransferase 3", "gene_name": "SPTLC3", "organism": "Human", "refseq_name": "serine palmitoyltransferase 3", "refseq_ac": [ { "id": "NP_060797", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060797", "type": "external" } ], "gene_names_uniprotkb": "SPTLC3; C20orf38; SPTLC2L", "gene_names_refseq": "C20orf38; LCB 3; LCB2B; LCB3; SPT 3; SPT3; SPTLC2L; SPTLC3; dJ718P11.1; dJ718P11; hLCB2b", "protein_names_uniprotkb": "Serine palmitoyltransferase 3; 2.3.1.50; LCB 3; LCB2b; Long chain base biosynthesis protein 2b; Long chain base biosynthesis protein 3; SPT 3; Serine-palmitoyl-CoA transferase 3", "protein_names_refseq": "long chain base biosynthesis protein 2b; long chain base biosynthesis protein 3; serine palmitoyltransferase 3; serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2); serine-palmitoyl-CoA transferase 3", "tax_id": 9606, "disease": "hereditary sensory and autonomic neuropathy type 1 (Disease Ontology:DOID:0070162)", "pathway": " (hsa:55304); (R-HSA-1660661)", "pathway_count": 2, "publication_count": 90, "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;19005213;19233134;19416851;19506037;19648650;20061445;20110355;20182505;21620961;22517924;22970244;23180825;23602659;23754960;24569996;24715725;24782409;25645385;25788259;26154972;26375851;28056980;28575652;28673556;28904123;29242379;29557506;29563527;29786170;30315122;30429286;30779550;31217245;31844290;31848261;31895563;31998317;32157095;32357974;32387766;32488085;32502341;32938616;32983136;33298915;33592498;33964854;33968037;34185709;35051231;35409383;35503173;35580925;36010968;36902339;36907437;37224812;37390971;4339164;4817756;9188692;9312549;9363775", "class_list": "glycogene", "function": "Cloning and expression in tissues and cell lines, [RefSeq, PubMed]; Component of the serine palmitoyltransferase multisubunit enzyme (SPT) that catalyzes the initial and rate-limiting step in sphingolipid biosynthesis by condensing L-serine and activated acyl-CoA (most commonly palmitoyl-CoA) to form long-chain bases (PubMed:19416851, PubMed:19648650). The SPT complex is composed of SPTLC1, SPTLC2 or SPTLC3 and SPTSSA or SPTSSB. Within this complex, the heterodimer consisting of SPTLC1 and SPTLC2/SPTLC3 forms the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference (PubMed:19416851). The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA. The SPTLC1-SPTLC2-SPTSSB complex shows a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SPTSSB isozyme displays an ability to use a broader range of acyl-CoAs, without apparent preference (PubMed:19416851, PubMed:19648650)., [UniProtKB, PubMed, PubMed]; Data show that the SPTLC3 subunit generates C(16)-sphingoid bases and that sphingolipids with a C(16) backbone constitute a significant proportion of plasma sphingolipids., [RefSeq, PubMed]; Results suggest that functional serine palmitoyltransferase is not a dimer, but a higher organized complex, composed of three distinct subunits (SPTLC1, SPTLC2 and SPTLC3) with a molecular mass of 480 kDa., [RefSeq, PubMed]; Serine Palmitoyltransferase Subunit 3 and Metabolic Diseases. Review article, [RefSeq, PubMed]; The association between the SPTLC3 rs364585 SNP and serum total cholesterol, high-density lipoprotein cholesterol and low-density lipoprotein cholesterol levels in the Han and Jing populations Publication Status: Online-Only, [RefSeq, PubMed]; The associations between individual plasma SFAs, serine palmitoyl-transferase long-chain base subunit 3 gene rs680379 polymorphism, and type 2 diabetes among Chinese adults., [RefSeq, PubMed]; This gene encodes a subunit of the serine palmitoyltransferase complex which catalyzes the rate-limiting step in sphingolipid biosynthesis. This subunit metabolizes lauroyl- and myristoyl-CoA and generates C14 and C16-sphingoid bases. [provided by RefSeq, Mar 2017]., [RefSeq]; This study demonstrated that the association of SPTLC3insACAC (p = 0.055) with the treatment-resistant ophthalmoplegic subphenotype of myasthenia gravis., [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": 692, "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": "A2A2I4;B9EK64;Q05DQ8;Q5T1U4;Q9H1L1;Q9H1Z0", "ec_number_list": [ { "id": "2.3.1.50", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.50", "type": "external" } ], "go_molecular_function": "GO:0004758 serine C-palmitoyltransferase activity;GO:0030170 pyridoxal phosphate binding;GO:0008483 transaminase activity;GO:0016740 transferase activity", "go_cellular_component": "GO:0017059 serine palmitoyltransferase complex;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0046513 ceramide biosynthetic process;GO:0030148 sphingolipid biosynthetic process;GO:0046512 sphingosine biosynthetic process;GO:0046520 sphingoid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "Q9NUV7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5M8-1", "uniprot_id": [ { "id": "SRPRB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5M8", "type": "external" } ], "mass": 29702.0, "length": 271, "protein_name": "Signal recognition particle receptor subunit beta", "gene_name": "SRPRB", "organism": "Human", "refseq_name": "signal recognition particle receptor subunit beta", "refseq_ac": [ { "id": "NP_067026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067026", "type": "external" } ], "gene_names_uniprotkb": "SRPRB; PSEC0230", "gene_names_refseq": "APMCF1; SR-beta; SRPRB", "protein_names_uniprotkb": "Signal recognition particle receptor subunit beta; Protein APMCF1; SR-beta", "protein_names_refseq": "SRP receptor beta subunit; signal recognition particle receptor subunit beta; signal recognition particle receptor, B subunit; signal recognition particle receptor, beta subunit", "tax_id": 9606, "disease": "", "pathway": " (hsa:58477); (R-HSA-1799339); (R-HSA-381038)", "pathway_count": 3, "publication_count": 111, "publication_id_list": "10.1074/mcp.M114.046862;10601334;10827079;11237011;11964406;12204115;12853463;12918107;15466936;16303743;16461360;16469117;16539657;18166647;18455985;18664523;20444697;21282569;23186163;23481700;24366607;24397554;24715725;25418920;25505266;25576301;25645385;25813380;25880248;26154972;26811146;26992070;27600516;27846572;27920218;28218747;28228285;28832583;28902358;28904123;29237092;29242379;29393594;29437277;29557506;29632046;29632711;29786170;29789417;30315122;30429286;30484775;30524438;30779550;31002879;31154438;31530632;31844290;31848261;31937595;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33465208;33592498;33717175;33912179;33936100;33968037;33981976;34020957;34087483;34171305;34185709;34509645;34561969;34931806;34932366;35051231;35083852;35132862;35251023;35318648;35580925;35705054;36010968;36215666;36241641;36284347;37217939;38665916;39534244;40307207;40596516;40914422;7590364;8666242;9037597;9450183;9473480;9631292", "class_list": "", "function": "APMCF1 may be the gene coding human signal recognition particle receptor beta and belongs to the small-G protein superfamily. Its strong expression pattern in colon cancer suggests it may play a role in colon cancer development., [RefSeq, PubMed]; Component of the signal recognition particle (SRP) complex receptor (SR) (By similarity). Ensures, in conjunction with the SRP complex, the correct targeting of the nascent secretory proteins to the endoplasmic reticulum membrane system (By similarity). May mediate the membrane association of SR (By similarity)., [UniProtKB, UniProtKB]; Results show that SRPRB promotes cell apoptosis through NF-kappaB activation. Its expression is regulated by SERP1 in pancreatic ductal adenocarcinoma., [RefSeq, PubMed]; The protein encoded by this gene has similarity to mouse protein which is a subunit of the signal recognition particle receptor (SR). This subunit is a transmembrane GTPase belonging to the GTPase superfamily. It anchors alpha subunit, a peripheral membrane GTPase, to the ER membrane. SR is required for the cotranslational targeting of both secretory and membrane proteins to the ER membrane. [provided by RefSeq, Jul 2008]., [RefSeq]; Variation in SRPRB was associated with lower blood alcohol content in Korean subjects, suggesting likely involvement in alcohol metabolism and possible association with the development of alcohol-related diseases in Korea., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q6P595;Q8N2D8", "ec_number_list": [], "go_molecular_function": "GO:0005525 GTP binding", "go_cellular_component": "GO:0005785 signal recognition particle receptor complex;GO:0005737 cytoplasm;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0005881 cytoplasmic microtubule", "go_biological_process": "GO:0045047 protein targeting to ER;GO:0006617 SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition", "synthesized_glycan_count": 0, "hit_score": 11.9, "record_id": "Q9Y5M8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UPE1-1", "uniprot_id": [ { "id": "SRPK3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UPE1", "type": "external" } ], "mass": 62014.0, "length": 567, "protein_name": "SRSF protein kinase 3", "gene_name": "SRPK3", "organism": "Human", "refseq_name": "SRSF protein kinase 3 isoform 2", "refseq_ac": [ { "id": "NP_001164231", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164231", "type": "external" } ], "gene_names_uniprotkb": "SRPK3; MSSK1; STK23", "gene_names_refseq": "MSSK-1; MSSK1; SRPK3; STK23; XLID114", "protein_names_uniprotkb": "SRSF protein kinase 3; 2.7.11.1; MSSK-1; Muscle-specific serine kinase 1; SR-protein-specific kinase 3; Serine/arginine-rich protein-specific kinase 3; Serine/threonine-protein kinase 23", "protein_names_refseq": "SFRS protein kinase 3; SR-protein-specific kinase 3; SRSF protein kinase 3 isoform 2; muscle-specific serine kinase 1; serine arginine rich protein-specific kinase 3; serine/threonine kinase 23; serine/threonine-protein kinase 23; serine/threonine-protein kinase SRPK3", "tax_id": 9606, "disease": "intellectual developmental disorder, X-linked 114 (MONDO:MONDO:0975828)", "pathway": " (hsa:26576)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11063724;11237011;17344846;20068231;21205200;25404735;28005267;29393594;29557506;32502341;33717175;33912179;34087483;34171305;35051231;36581221;39073169", "class_list": "", "function": "Alternative splicing of the alpha-exon of MEF2C regulates myogenesis. Loss of SRPK3 in rhabdomyosarcoma cells inhibits this splicing and blocks differentiation., [RefSeq, PubMed]; SRPK3 expression is significantly downregulated in human masticatory mucosa during wound healing, [RefSeq, PubMed]; Serine/arginine-rich protein-specific kinase which specifically phosphorylates its substrates at serine residues located in regions rich in arginine/serine dipeptides, known as RS domains. Phosphorylates the SR splicing factor SRSF1 and the lamin-B receptor (LBR) in vitro. Required for normal muscle development (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a protein kinase similar to a protein kinase which is specific for the SR (serine/arginine-rich domain) family of splicing factors. A highly similar protein has been shown to play a role in muscle development in mice. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q13583;Q4F970;Q562F5;Q9UM62", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0030154 cell differentiation;GO:0035556 intracellular signal transduction;GO:0007517 muscle organ development;GO:0000245 spliceosomal complex assembly;GO:0060537 muscle tissue development", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q9UPE1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "C9JQI7-1", "uniprot_id": [ { "id": "TM232_HUMAN", "url": "https://www.uniprot.org/uniprot/C9JQI7", "type": "external" } ], "mass": 76453.0, "length": 657, "protein_name": "Transmembrane protein 232", "gene_name": "TMEM232", "organism": "Human", "refseq_name": "transmembrane protein 232", "refseq_ac": [ { "id": "NP_001034852", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034852", "type": "external" } ], "gene_names_uniprotkb": "TMEM232", "gene_names_refseq": "TMEM232", "protein_names_uniprotkb": "Transmembrane protein 232", "protein_names_refseq": "transmembrane protein 232", "tax_id": 9606, "disease": "", "pathway": " (hsa:642987)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;19913121;20628086;28218747;28351738;31844290;33592498;34750414;35051231;35580925;36928730;37217939", "class_list": "", "function": "Confirming the TMEM232 gene associated with atopic dermatitis through targeted capture sequencing. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Plays a critical role for male fertility and sperm motility by regulating sperm cytoplasm removal and maintaining axoneme integrity., [UniProtKB, UniProtKB]; TMEM232 is the causal gene for atopic dermatitis in Chinese Han population., [RefSeq, PubMed]; TMEM232 promotes the inflammatory response in atopic dermatitis via the nuclear factor-kappaB and signal transducer and activator of transcription 3 signalling pathways. Erratum:[Br J Dermatol. 2023 Oct 25;189(5):e83-e87. doi: 10.1093/bjd/ljad346. PMID: 37742065], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B4DKF4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0001520 outer dense fiber;GO:0016020 membrane", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030317 flagellated sperm motility;GO:0030030 cell projection organization;GO:0160087 spermatid cytoplasm removal during spermiation of flagellated sperm", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "C9JQI7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75347-1", "uniprot_id": [ { "id": "TBCA_HUMAN", "url": "https://www.uniprot.org/uniprot/O75347", "type": "external" } ], "mass": 12855.0, "length": 108, "protein_name": "Tubulin-specific chaperone A", "gene_name": "TBCA", "organism": "Human", "refseq_name": "tubulin-specific chaperone A isoform 1", "refseq_ac": [ { "id": "NP_001284667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001284667", "type": "external" } ], "gene_names_uniprotkb": "TBCA", "gene_names_refseq": "TBCA", "protein_names_uniprotkb": "Tubulin-specific chaperone A; CFA; TCP1-chaperonin cofactor A; Tubulin-folding cofactor A", "protein_names_refseq": "CFA; TCP1-chaperonin cofactor A; chaperonin cofactor A; epididymis secretory sperm binding protein; tubulin-specific chaperone A isoform 1; tubulin-specific chaperone a", "tax_id": 9606, "disease": "", "pathway": " (hsa:6902); (R-HSA-389977)", "pathway_count": 2, "publication_count": 63, "publication_id_list": "10831612;11237011;12054808;15963512;20068231;20740604;22905912;23481700;23740643;24366607;24714562;24715725;25576301;25645385;26154972;26375851;26728094;26992070;27920218;28446606;28514659;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29786170;30192525;30315122;30833945;31222486;31530632;31844290;31848261;31998317;32157095;32350084;32357974;32488085;32502341;32897882;32938616;32983136;33214551;33298915;33592498;33968037;34019948;34229054;34357683;34509645;34932366;35251023;35561310;35580925;36010968;36284347;38665916;9265649;9653160", "class_list": "", "function": "Overexpression of TBCA did not induce biocharacteristics that directly contrasted to those of TBCA knockdown, [RefSeq, PubMed]; TBCA is essential for cell viability and its knockdown produces a decrease in the amount of soluble tubulin, modifications in microtubules and G1 cell cycle arrest., [RefSeq, PubMed]; The product of this gene is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. This gene encodes chaperonin cofactor A. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]., [RefSeq]; Tubulin-folding protein; involved in the early step of the tubulin folding pathway., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 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": "B4DT30", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0051087 protein-folding chaperone binding;GO:0015631 tubulin binding;GO:0048487 beta-tubulin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005874 microtubule;GO:0015630 microtubule cytoskeleton", "go_biological_process": "GO:0006457 protein folding;GO:0007021 tubulin complex assembly;GO:0007023 post-chaperonin tubulin folding pathway", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "O75347-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A2VDJ0-1", "uniprot_id": [ { "id": "T131L_HUMAN", "url": "https://www.uniprot.org/uniprot/A2VDJ0", "type": "external" } ], "mass": 179339.0, "length": 1609, "protein_name": "Transmembrane protein 131-like", "gene_name": "TMEM131L", "organism": "Human", "refseq_name": "transmembrane protein 131-like isoform 1 precursor", "refseq_ac": [ { "id": "NP_001124479", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124479", "type": "external" } ], "gene_names_uniprotkb": "TMEM131L; KIAA0922", "gene_names_refseq": "KIAA0922; TMEM131L", "protein_names_uniprotkb": "Transmembrane protein 131-like", "protein_names_refseq": "transmembrane protein 131-like isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:23240)", "pathway_count": 1, "publication_count": 87, "publication_id_list": "10.1101/2023.09.13.557529;11230166;11237011;18669648;22424782;22544926;22645359;23481700;23690469;24190977;24366607;24714562;24715725;25418920;25505266;25576301;25892735;26154972;26375851;26728094;26811146;26929215;26992070;27846572;27920218;28063628;28218747;28228285;28347816;28514659;28832583;28834231;28855257;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30410026;30484775;30524438;31217245;31324691;31844290;32157095;32265295;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34093574;34171305;34211107;34509645;34561969;34932366;35051231;35318648;35494241;35561310;35580925;36010968;36241641;36284347;36581221;37074911;37938771", "class_list": "", "function": "Membrane-associated form that antagonizes canonical Wnt signaling by triggering lysosome-dependent degradation of Wnt-activated LRP6. Regulates thymocyte proliferation., [UniProtKB, PubMed]; These data indicate that, during thymopoiesis, stage-specific surface translocation of TMEM131L may regulate immature single-positive thymocyte proliferation arrest, [RefSeq, PubMed]; These results show that TMEM131L corresponds to an evolutionary conserved regulator of the Notch signaling pathway., [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": 9, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 9, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 12, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 12, "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": 64, "reported_interactions": 0, "missing_score": 9585, "biomarker_type": "", "glycan_count": 6, "disease_count": 0, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "B3KRV3;D3DP10;Q7LGA7;Q86Y92;Q8WU56;Q9H065;Q9Y2D7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane", "go_biological_process": "GO:0090090 negative regulation of canonical Wnt signaling pathway;GO:0016055 Wnt signaling pathway;GO:0033088 negative regulation of immature T cell proliferation in thymus", "synthesized_glycan_count": 0, "hit_score": 10.6, "record_id": "A2VDJ0-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1000000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IXH6-1", "uniprot_id": [ { "id": "T53I2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IXH6", "type": "external" } ], "mass": 23980.0, "length": 220, "protein_name": "Tumor protein p53-inducible nuclear protein 2", "gene_name": "TP53INP2", "organism": "Human", "refseq_name": "tumor protein p53-inducible nuclear protein 2", "refseq_ac": [ { "id": "NP_001316358", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316358", "type": "external" } ], "gene_names_uniprotkb": "TP53INP2; C20orf110; DOR; PINH", "gene_names_refseq": "C20orf110; DOR; PINH; TP53INP2; dJ1181N3.1", "protein_names_uniprotkb": "Tumor protein p53-inducible nuclear protein 2; Diabetes and obesity-regulated gene; PIG-U; p53-inducible protein U", "protein_names_refseq": "diabetes and obesity-regulated; p53-inducible protein U; tumor protein p53-inducible nuclear protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:58476)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11237011;18030323;18669648;19056683;19145107;19934309;21467300;22470510;24275569;25502872;29242379;32157095;32350084;33197884;33912179;33968037;35051231;35251023;35954230;36650573;36675134;37995453;38545813", "class_list": "", "function": "Alternative splicing of an exon in the 5' untranslated region of a gene termed TP53INP2 is a key event downstream of hnRNP A2 that is necessary for cells to invade the extracellular matrix., [RefSeq, PubMed]; Cytoplasmic Expression of TP53INP2 Modulated by Demethylase FTO and Mutant NPM1 Promotes Autophagy in Leukemia Cells. Publication Status: Online-Only, [RefSeq, PubMed]; DOR plays an important role in thyroid hormone-mediated osteoblast differentiation, and a DOR SNP associates with plasma osteocalcin in men., [RefSeq, PubMed]; Dual regulator of transcription and autophagy. Positively regulates autophagy and is required for autophagosome formation and processing. May act as a scaffold protein that recruits MAP1LC3A, GABARAP and GABARAPL2 and brings them to the autophagosome membrane by interacting with VMP1 where, in cooperation with the BECN1-PI3-kinase class III complex, they trigger autophagosome development. Acts as a transcriptional activator of THRA., [UniProtKB, PubMed, PubMed, PubMed]; Inactivation of ZSCAN18 by promoter hypermethylation drives the proliferation via attenuating TP53INP2-mediated autophagy in gastric cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; TP53INP2 Contributes to TGF-beta2-Induced Autophagy during the Epithelial-Mesenchymal Transition in Posterior Capsular Opacification Development. Publication Status: Online-Only, [RefSeq, PubMed]; TP53INP2 is a novel gene involved in the autophagy of mammalian cells., [RefSeq, PubMed]; TP53INP2 modulates the malignant progression of colorectal cancer by reducing the inactive form of beta-catenin., [RefSeq, PubMed]; TP53INP2-dependent activation of muscle autophagy ameliorates sarcopenia and promotes healthy aging., [RefSeq, PubMed]; The protein encoded by this gene promotes autophagy and is essential for proper autophagosome formation and processing. In addition, the encoded protein can enhance rDNA transcription by helping in the assembly of the POLR1/RNA polymerase I preinitiation complex. Finally, this protein serves as a transcriptional activator for some genes. [provided by RefSeq, Jul 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "A8K8S8;E1P5P6;Q5JX64;Q8IYL5;Q9NU00", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0031410 cytoplasmic vesicle;GO:0005776 autophagosome;GO:0016605 PML body", "go_biological_process": "GO:0000045 autophagosome assembly;GO:0006351 DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription;GO:0006914 autophagy", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q8IXH6-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NFB2-1", "uniprot_id": [ { "id": "T185A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NFB2", "type": "external" } ], "mass": 40647.0, "length": 350, "protein_name": "Transmembrane protein 185A", "gene_name": "TMEM185A", "organism": "Human", "refseq_name": "transmembrane protein 185A isoform 3", "refseq_ac": [ { "id": "NP_001269231", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269231", "type": "external" } ], "gene_names_uniprotkb": "TMEM185A; CXorf13; FAM11A", "gene_names_refseq": "CXorf13; FAM11A; FRAXF; TMEM185A; ee3", "protein_names_uniprotkb": "Transmembrane protein 185A; Protein FAM11A", "protein_names_refseq": "family with sequence similarity 11, member A; fragile site, folic acid type, rare, fra(X)(q28) F; transmembrane protein 185A isoform 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:84548)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;12404111;12806492;15525354;20068231;23481700;29242379;30315122;31848261;37938771", "class_list": "", "function": "Observational study of genetic testing. (HuGE Navigator), [RefSeq, PubMed]; The mouse ee3 is an orphan G-protein-coupled receptor with potential connections to erythropoietin and 5HT2a receptor signalling. ee3_2, a similar gene, is also described, along with human orthologs., [RefSeq, PubMed]; The protein encoded by this gene is predicted to be a transmembrane protein. This gene is best known for localizing to the CpG island of the fragile site FRAXF. The 5' untranslated region of this gene contains a CGG trinucleotide repeat sequence that normally consists of 7-40 tandem CGG repeats but which can expand to greater than 300 repeats. Methylation of the CpG island leads to transcriptional silencing of this gene, but neither the silencing nor an expanded repeat region appear to manifest itself in a clear phenotypic manner. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KTZ3;Q3SYH1;Q96CW3;Q96KE8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane;GO:0030425 dendrite", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q8NFB2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0CG35-1", "uniprot_id": [ { "id": "TB15B_HUMAN", "url": "https://www.uniprot.org/uniprot/P0CG35", "type": "external" } ], "mass": 5229.0, "length": 45, "protein_name": "Thymosin beta-15B", "gene_name": "TMSB15B", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TMSB15B", "gene_names_refseq": "", "protein_names_uniprotkb": "Thymosin beta-15B", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:11013); (hsa:286527)", "pathway_count": 2, "publication_count": 3, "publication_id_list": "11237011;12665801;19296525", "class_list": "", "function": "Plays an important role in the organization of the cytoskeleton. Binds to and sequesters actin monomers (G actin) and therefore inhibits actin polymerization (By similarity). May be involved in cell migration (PubMed:19296525)., [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": "A8K614;Q99406", "ec_number_list": [], "go_molecular_function": "GO:0003785 actin monomer binding;GO:0140311 protein sequestering activity", "go_cellular_component": "GO:0031941 filamentous actin;GO:0005856 cytoskeleton", "go_biological_process": "GO:0007015 actin filament organization;GO:0030335 positive regulation of cell migration;GO:0030334 regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "P0CG35-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P19623-1", "uniprot_id": [ { "id": "SPEE_HUMAN", "url": "https://www.uniprot.org/uniprot/P19623", "type": "external" } ], "mass": 33825.0, "length": 302, "protein_name": "Spermidine synthase", "gene_name": "SRM", "organism": "Human", "refseq_name": "spermidine synthase", "refseq_ac": [ { "id": "NP_003123", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003123", "type": "external" } ], "gene_names_uniprotkb": "SRM; SPS1; SRML1", "gene_names_refseq": "PAPT; SPDSY; SPS1; SRML1; SRM", "protein_names_uniprotkb": "Spermidine synthase; 2.5.1.16; Putrescine aminopropyltransferase; SPDSY", "protein_names_refseq": "putrescine aminopropyltransferase; spermidine synthase-1; spermidine synthase", "tax_id": 9606, "disease": "", "pathway": " (hsa:6723); (R-HSA-351202)", "pathway_count": 2, "publication_count": 77, "publication_id_list": "10623504;11237011;11583147;17407445;17585781;18367445;20112406;2069720;22223895;2344393;23481700;24715725;25418920;25645385;25810538;25892735;26154972;26375851;26811146;26929215;26992070;27600516;28218747;28228285;28510447;28832583;28904123;29242379;29314611;29331515;29393594;29557506;29632046;29769354;30192525;30315122;30429286;30833945;31020640;31154438;31844290;31848261;32119511;32157095;32265295;32350084;32387766;32488085;32502341;32983136;33214551;33592498;33691108;33717175;33912179;33936100;33968037;34019948;34078123;34171305;34229054;34357683;34725712;34843906;34932366;35051231;35138101;35154160;35251023;35580925;36010968;36241641;36284347;36581221;38665916;40914422;7546290", "class_list": "", "function": "Catalyzes the production of spermidine from putrescine and decarboxylated S-adenosylmethionine (dcSAM). Has a strong preference for putrescine as substrate, and has very low activity towards 1,3-diaminopropane. Has extremely low activity towards spermidine., [UniProtKB, PubMed]; The polyamines putrescine, spermine, and spermidine are ubiquitous polycationic mediators of cell growth and differentiation. Spermidine synthase is one of four enzymes in the polyamine-biosynthetic pathway and carries out the final step of spermidine biosynthesis. This enzyme catalyzes the conversion of putrescine to spermidine using decarboxylated S-adenosylmethionine as the cofactor. [provided by RefSeq, Jul 2008]., [RefSeq]; The potential role of c-MYC and polyamine metabolism in multiple drug resistance in bladder cancer investigated by metabonomics., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B1AKP9;Q15511", "ec_number_list": [ { "id": "2.5.1.16", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.16", "type": "external" } ], "go_molecular_function": "GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0004766 spermidine synthase activity;GO:0016740 transferase activity;GO:0003824 catalytic activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0006597 spermine biosynthetic process;GO:0008295 spermidine biosynthetic process;GO:0006595 polyamine metabolic process;GO:0006596 polyamine biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "P19623-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BVQ7-1", "uniprot_id": [ { "id": "AFG2B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BVQ7", "type": "external" } ], "mass": 80710.0, "length": 753, "protein_name": "ATPase family gene 2 protein homolog B", "gene_name": "AFG2B", "organism": "Human", "refseq_name": "ATPase family gene 2 protein homolog B isoform 2", "refseq_ac": [ { "id": "NP_001310569", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001310569", "type": "external" } ], "gene_names_uniprotkb": "AFG2B; SPATA5L1", "gene_names_refseq": "AFG2B; DFNB119; NEDHLS; SPATA5L1", "protein_names_uniprotkb": "ATPase family gene 2 protein homolog B; 3.6.4.10; AFG2 AAA ATPase homolog B; Ribosome biogenesis protein SPATA5L1; Spermatogenesis-associated protein 5-like protein 1", "protein_names_refseq": "AFG2 AAA ATPase homolog B; ATPase family gene 2 protein homolog B isoform 2; ATPase family gene 2 protein homolog B; ribosome biogenesis protein SPATA5L1; spermatogenesis associated 5 like 1; spermatogenesis-associated protein 5-like protein 1", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness (Disease Ontology:DOID:0050565); autosomal recessive nonsyndromic deafness 119 (Disease Ontology:DOID:0070673); neurodevelopmental disorder with hearing loss and spasticity (MONDO:MONDO:0859206)", "pathway": " (hsa:79029)", "pathway_count": 1, "publication_count": 52, "publication_id_list": "11237011;18445686;19430482;25418920;25576301;25892735;26758079;26992070;27862975;27920218;28228285;28254787;28514659;28832583;28834231;28904123;29242379;29393594;29557506;29632046;29769354;30315122;30484775;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32265295;32357974;32488085;32938616;33141586;33298915;33392160;33592498;33717175;33912179;33968037;34561969;34626583;35051231;35354024;35580925;36010968;36215666;36241641;37541260;37938771;38554706", "class_list": "", "function": "ATP-dependent chaperone part of the 55LCC heterohexameric ATPase complex which is chromatin-associated and promotes replisome proteostasis to maintain replication fork progression and genome stability. Required for replication fork progression, sister chromatid cohesion, and chromosome stability. The ATPase activity is specifically enhanced by replication fork DNA and is coupled to cysteine protease-dependent cleavage of replisome substrates in response to replication fork damage. Uses ATPase activity to process replisome substrates in S-phase, facilitating their proteolytic turnover from chromatin to ensure DNA replication and mitotic fidelity (PubMed:38554706). Plays an essential role in the cytoplasmic maturation steps of pre-60S ribosomal particles by promoting the release of shuttling protein RSL24D1/RLP24 from the pre-ribosomal particles (PubMed:35354024)., [UniProtKB, PubMed, PubMed]; Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss., [RefSeq, PubMed]; Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "C9JHR5;Q9H8W7;Q9HA41", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:1990275 preribosome binding;GO:0005524 ATP binding;GO:0031593 polyubiquitin modification-dependent protein binding;GO:0042802 identical protein binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0034098 VCP-NPL4-UFD1 AAA ATPase complex;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005819 spindle;GO:0005829 cytosol", "go_biological_process": "GO:0097352 autophagosome maturation;GO:0042273 ribosomal large subunit biogenesis;GO:0006260 DNA replication;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0051228 mitotic spindle disassembly", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q9BVQ7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P40200-1", "uniprot_id": [ { "id": "TACT_HUMAN", "url": "https://www.uniprot.org/uniprot/P40200", "type": "external" } ], "mass": 65634.0, "length": 585, "protein_name": "T-cell surface protein tactile", "gene_name": "CD96", "organism": "Human", "refseq_name": "T-cell surface protein tactile isoform 2 precursor", "refseq_ac": [ { "id": "NP_005807", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005807", "type": "external" } ], "gene_names_uniprotkb": "CD96", "gene_names_refseq": "CD96; TACTILE", "protein_names_uniprotkb": "T-cell surface protein tactile; Cell surface antigen CD96; T cell-activated increased late expression protein", "protein_names_refseq": "T cell activation, increased late expression; T-cell surface protein tactile isoform 2 precursor; T-cell surface protein tactile; cell surface antigen CD96; t cell-activated increased late expression protein", "tax_id": 9606, "disease": "C syndrome (Disease Ontology:DOID:0111581)", "pathway": " (hsa:10225); (R-HSA-198933)", "pathway_count": 2, "publication_count": 107, "publication_id_list": "10499918;10746781;11237011;11265639;11489943;11513152;11556966;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12483297;12588680;1313846;14719373;14970179;15034010;15136729;15155468;15187158;15304001;15534202;15541655;15580655;15607800;15778510;15781451;15800062;15851719;15864273;16014749;16091383;16129954;16339513;16380601;16551255;16737824;16754721;16893496;16904340;16928187;17045824;17057721;17237375;17337780;17576927;17847009;18031695;18037897;18055229;18209062;18234675;18593354;19149696;19349973;19359216;19592130;20730098;21241660;21800138;21841309;21877119;22396535;23695528;23929856;24305946;24715725;25576301;25703557;25716998;26154972;26284469;26300885;28218747;28228285;28832583;29242379;29437277;29493099;29557506;32157095;32488085;32502341;32983136;33123756;33968037;35051231;35580925;36010968;36581470;36674817;36949573;37074911;37075705;39159564;7531291;7542404;8178173;8995416;9285412;9314561;9700512;9730896", "class_list": "", "function": "CD44, CD90 and CD96 expression in immune thrombocytopenia purpura (ITP) patients., [RefSeq, PubMed]; CD96 as a Potential Immune Regulator in Cancers. Review article Publication Status: Online-Only, [RefSeq, PubMed]; CD96 is a cell surface marker present on many acute myeloid leukemia leukemic stem cells, [RefSeq, PubMed]; CD96 promotes natural killer (NK) cell adhesion to target cells expressing the poliovirus receptor (PVR), stimulates cytotoxicity of activated NK cells, and mediates acquisition of PVR from target cells., [RefSeq, PubMed]; Deficiency of the CD155-CD96 immune checkpoint controls IL-9 production in giant cell arteritis., [RefSeq, PubMed]; May be involved in adhesive interactions of activated T and NK cells during the late phase of the immune response. Promotes NK cell-target adhesion by interacting with PVR present on target cells. May function at a time after T and NK cells have penetrated the endothelium using integrins and selectins, when they are actively engaging diseased cells and moving within areas of inflammation., [UniProtKB, UniProtKB, UniProtKB]; Prognostic impact of enhanced CD96 expression on NK cells by TGF-beta1 in AML., [RefSeq, PubMed]; The protein encoded by this gene belongs to the immunoglobulin superfamily. It is a type I membrane protein. The protein may play a role in the adhesive interactions of activated T and NK cells during the late phase of the immune response. It may also function in antigen presentation. Alternative splicing generates multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2016]., [RefSeq]; Tumor Cell-Intrinsic CD96 Mediates Chemoresistance and Cancer Stemness by Regulating Mitochondrial Fatty Acid beta-Oxidation., [RefSeq, PubMed]", "predicted_glycosites": 11, "predicted_n_glycosites": 11, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "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": 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": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "Q5JPB3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006955 immune response;GO:0007155 cell adhesion;GO:0007160 cell-matrix adhesion", "synthesized_glycan_count": 0, "hit_score": 11.3, "record_id": "P40200-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N103-1", "uniprot_id": [ { "id": "TAGAP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N103", "type": "external" } ], "mass": 80703.0, "length": 731, "protein_name": "T-cell activation Rho GTPase-activating protein", "gene_name": "TAGAP", "organism": "Human", "refseq_name": "T-cell activation Rho GTPase-activating protein isoform d", "refseq_ac": [ { "id": "NP_001265662", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265662", "type": "external" } ], "gene_names_uniprotkb": "TAGAP; FKSG15; TAGAP1", "gene_names_refseq": "ARHGAP47; FKSG15; IDDM21; TAGAP1; TAGAP", "protein_names_uniprotkb": "T-cell activation Rho GTPase-activating protein; T-cell activation GTPase-activating protein", "protein_names_refseq": "T-cell activation Rho GTPase-activating protein isoform d", "tax_id": 9606, "disease": "", "pathway": " (hsa:117289); (R-HSA-8980692); (R-HSA-9013148); (R-HSA-9013149)", "pathway_count": 4, "publication_count": 339, "publication_id_list": "10037681;10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10619026;10699171;10699464;10724160;10873388;10873802;10958683;11007481;11058585;11085924;11149925;11207612;11237011;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11680691;11689693;11696321;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11948177;11961559;12071859;12093360;12096337;12172552;12195014;12221077;12221096;12351724;12432077;12464619;12531887;12546821;12547822;12650940;12665586;12773384;12857875;12860998;12877655;12907671;12923183;14506234;14512443;14514689;1464587;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15147912;15157669;15177553;15260990;15302923;15304341;15339924;15342493;15485661;15507211;15579468;15601624;15611138;15728722;15850391;15858067;15866170;15897194;16002401;16112081;16116428;16184169;16217026;16243036;16467373;16473593;16492808;16507994;16519628;16630611;16636067;16702231;16714282;16762923;16776779;16777452;16777849;16862148;16896804;16914516;16968698;17064668;17077126;17145773;17196961;17214551;17244649;17562871;17583407;17599059;17702745;17765681;17804252;17932950;17942708;17976533;18006505;18045877;18056264;18158243;18218625;18249095;18311140;18347018;18363964;18396277;18426980;18653540;18786931;18805825;18829452;18835169;18838382;18929667;19269969;19494238;19605563;19635168;19673492;19713215;19934221;20030946;20101212;20400958;20460433;20591975;20628200;20660154;20679435;20810653;21148482;21351730;21454492;21542010;21565175;21613211;21685891;21699497;21730051;21865595;21936715;21989057;22004470;22096251;22298643;22305756;22407364;22461490;22475431;22571869;22608513;22673745;22734669;22911862;22970203;22992742;23200924;23209303;23255595;23288169;23406282;23434736;23572525;23707487;23718289;23870313;23940355;24086303;24128008;24259668;24275569;24335996;24352656;24366607;24584464;24859002;24933155;24960694;24996924;25024229;25211221;25428919;25548167;25704760;25721503;25795300;25862245;25963737;26129894;26154972;26299518;26371245;26529257;26598554;26887924;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27798618;27806292;27846572;27862975;27920218;27986909;28028151;28112683;28114311;28196833;28228285;28584191;28825699;28832583;28834231;28860633;28904123;29089502;29146911;29242379;29358323;29382922;29493099;29557506;29632711;29786170;30061681;30379171;30429286;30853411;31105010;31154438;31530632;31844290;31848261;31871319;32203420;32357974;32983136;33141586;33298915;33912179;35051231;35580925;35597527;37217939;37744350;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8537347;8543060;8571126;8617235;8643598;8645157;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8807639;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9111050;9113980;9268338;9305890;9405671;9418861;9438849;9490638;9497316;9535835;9548756;9582072;9659915;9670022;9792683;9822598;9822605;9829970;9843499;9846874;9988689", "class_list": "", "function": "An attempt to unravel the association of TAGAP gene SNPs with rheumatoid arthritis in the Indian population using high-resolution melting analysis., [RefSeq, PubMed]; Genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; May function as a GTPase-activating protein and may play important roles during T-cell activation., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; TAGAP expression influences CD4+ T cell differentiation, immune infiltration, and cytotoxicity in LUAD through the STAT pathway: implications for immunotherapy. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the Rho GTPase-activator protein superfamily. The encoded protein may function as a Rho GTPase-activating protein. Alterations in this gene may be associated with several diseases, including rheumatoid arthritis, celiac disease, and multiple sclerosis. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [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": 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": 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": "Q2NKM8;Q8NI40;Q96KZ2;Q96QA2", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0007165 signal transduction;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0035023 regulation of Rho protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 34.3, "record_id": "Q8N103-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P32856-1", "uniprot_id": [ { "id": "STX2_HUMAN", "url": "https://www.uniprot.org/uniprot/P32856", "type": "external" } ], "mass": 33341.0, "length": 288, "protein_name": "Syntaxin-2", "gene_name": "STX2", "organism": "Human", "refseq_name": "syntaxin-2 isoform 1", "refseq_ac": [ { "id": "NP_001971", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001971", "type": "external" } ], "gene_names_uniprotkb": "STX2; EPIM; STX2A; STX2B; STX2C", "gene_names_refseq": "EPIM; EPM; STX2A; STX2B; STX2C; STX2", "protein_names_uniprotkb": "Syntaxin-2; Epimorphin", "protein_names_refseq": "epimorphin; syntaxin-2 isoform 1", "tax_id": 9606, "disease": "fetal alcohol spectrum disorder (Disease Ontology:DOID:0050696); alcohol dependence (Disease Ontology:DOID:0050741); withdrawal disorder (Disease Ontology:DOID:0060001); portal hypertension (Disease Ontology:DOID:10762); impulse control disorder (Disease Ontology:DOID:10937); hyperprolactinemia (Disease Ontology:DOID:12700); renovascular hypertension (Disease Ontology:DOID:1591); depressive disorder (Disease Ontology:DOID:1596); severe acute respiratory syndrome (Disease Ontology:DOID:2945); carotid artery disease (Disease Ontology:DOID:3407); prolactinoma (Disease Ontology:DOID:5394); hepatocellular carcinoma (Disease Ontology:DOID:684); cocaine abuse (Disease Ontology:DOID:809); obesity (Disease Ontology:DOID:9970); cocaine dependence (Disease Ontology:DOID:9975); hypoglycemia (Disease Ontology:DOID:9993)", "pathway": " (hsa:2054)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11237011;29855462;30429286;31848261;32387766;32938616;33075373;33592498;33968037;34357683;34405274;34509645;35051231;36010968;36316316;39894887;8466509", "class_list": "", "function": "Essential for epithelial morphogenesis. May mediate Ca(2+)-regulation of exocytosis acrosomal reaction in sperm., [UniProtKB]; Plasma membrane flipping of Syntaxin-2 regulates its inhibitory action on insulin granule exocytosis. Publication Status: Online-Only, [RefSeq, PubMed]; STX2 as a crucial modulator of the aggressive colorectal cancer phenotype. Publication Status: Online-Only, [RefSeq, PubMed]; STX2 drives colorectal cancer proliferation via upregulation of EXOSC4., [RefSeq, PubMed]; The product of this gene belongs to the syntaxin/epimorphin family of proteins. The syntaxins are a large protein family implicated in the targeting and fusion of intracellular transport vesicles. The product of this gene regulates epithelial-mesenchymal interactions and epithelial cell morphogenesis and activation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 16, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q86VW8", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0048306 calcium-dependent protein binding;GO:0005198 structural molecule activity;GO:0000149 SNARE binding;GO:0005484 SNAP receptor activity", "go_cellular_component": "GO:0048787 presynaptic active zone membrane;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0030027 lamellipodium", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0007165 signal transduction;GO:0007340 acrosome reaction;GO:0009887 animal organ morphogenesis;GO:0034599 cellular response to oxidative stress", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "P32856-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "B6A8C7-1", "uniprot_id": [ { "id": "TARM1_HUMAN", "url": "https://www.uniprot.org/uniprot/B6A8C7", "type": "external" } ], "mass": 29455.0, "length": 271, "protein_name": "T-cell-interacting, activating receptor on myeloid cells protein 1", "gene_name": "TARM1", "organism": "Human", "refseq_name": "T-cell-interacting, activating receptor on myeloid cells protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001317579", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317579", "type": "external" } ], "gene_names_uniprotkb": "TARM1", "gene_names_refseq": "OLT-2; TARM1", "protein_names_uniprotkb": "T-cell-interacting, activating receptor on myeloid cells protein 1; OLT-2; OSCAR-like transcript-2 protein", "protein_names_refseq": "OSCAR-like transcript-2 protein; T-cell-interacting, activating receptor on myeloid cells protein 1 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:441864); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "11237011;23650620;26311901;28832583;29242379;8692836", "class_list": "", "function": "May act as receptor (By similarity). Negatively regulates TCR-mediated CD4(+) T cell proliferation and activation, possibly by binding an unknown ligand on the T cell surface (PubMed:26311901). Enhances Toll-like receptor-mediated production of pro-inflammatory cytokines by macrophages and neutrophils (By similarity)., [UniProtKB, PubMed, UniProtKB]; These results suggest that a putative T cell ligand can interact with TARM1 receptor, resulting in bidirectional signaling and raising the T cell activation threshold while costimulating the release of proinflammatory cytokines by macrophages and neutrophils., [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": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DWY4", "ec_number_list": [], "go_molecular_function": "GO:0034987 immunoglobulin receptor binding;GO:0004888 transmembrane signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0035579 specific granule membrane;GO:0070821 tertiary granule membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0045087 innate immune response;GO:0002250 adaptive immune response;GO:2000562 negative regulation of CD4-positive, alpha-beta T cell proliferation;GO:2000515 negative regulation of CD4-positive, alpha-beta T cell activation", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "B6A8C7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NBD8-1", "uniprot_id": [ { "id": "T229B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NBD8", "type": "external" } ], "mass": 19531.0, "length": 167, "protein_name": "Transmembrane protein 229B", "gene_name": "TMEM229B", "organism": "Human", "refseq_name": "transmembrane protein 229B isoform b", "refseq_ac": [ { "id": "NP_001335475", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001335475", "type": "external" } ], "gene_names_uniprotkb": "TMEM229B; C14orf83", "gene_names_refseq": "C14orf83; TMEM229B", "protein_names_uniprotkb": "Transmembrane protein 229B", "protein_names_refseq": "transmembrane protein 229B isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:161145)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;29393594;32157095;32387766;34780722;35051231", "class_list": "", "function": "Integrative Analysis of the Inflammatory Bowel Disease Serum Metabolome Improves Our Understanding of Genetic Etiology and Points to Novel Putative Therapeutic Targets., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8NBD8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N3R3-1", "uniprot_id": [ { "id": "TCAIM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N3R3", "type": "external" } ], "mass": 57925.0, "length": 496, "protein_name": "T-cell activation inhibitor, mitochondrial", "gene_name": "TCAIM", "organism": "Human", "refseq_name": "T-cell activation inhibitor, mitochondrial isoform 2", "refseq_ac": [ { "id": "NP_001025010", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025010", "type": "external" } ], "gene_names_uniprotkb": "TCAIM; C3orf23; TOAG1", "gene_names_refseq": "C3orf23; TCAIM; TOAG-1; TOAG1", "protein_names_uniprotkb": "T-cell activation inhibitor, mitochondrial; TOAG-1; Tolerance associated gene-1 protein", "protein_names_refseq": "T-cell activation inhibitor, mitochondrial isoform 2; tolerance associated gene-1 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:285343)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11237011;25576301;26992070;28218747;28832583;29786170;30429286;31154438;31844290;32157095;32897882;33968037;34185709;35580925;36010968", "class_list": "", "function": "May regulate T-cell apoptosis., [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": "A8K9P1;Q0P5T9;Q495R1;Q495R3;Q4G0M4;Q6GMU8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q8N3R3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96I59-1", "uniprot_id": [ { "id": "SYNM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96I59", "type": "external" } ], "mass": 54090.0, "length": 477, "protein_name": "Asparaginyl-tRNA synthetase", "gene_name": "NARS2", "organism": "Human", "refseq_name": "asparaginyl-tRNA synthetase isoform 2", "refseq_ac": [ { "id": "NP_001230180", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230180", "type": "external" } ], "gene_names_uniprotkb": "NARS2", "gene_names_refseq": "DFNB94; NARS2; SLM5; asnRS", "protein_names_uniprotkb": "Asparaginyl-tRNA synthetase; 6.1.1.22; AsnRS; Asparagine--tRNA ligase, mitochondrial; NARS2", "protein_names_refseq": "asparagine tRNA ligase 2, mitochondrial (putative); asparagine--tRNA ligase, mitochondrial; asparaginyl-tRNA synthetase 2, mitochondrial (putative); asparaginyl-tRNA synthetase isoform 2; deafness, autosomal recessive 94; probable asparagine--tRNA ligase, mitochondrial; probable asparaginyl-tRNA synthetase, mitochondrial", "tax_id": 9606, "disease": "mitochondrial complex I deficiency (Disease Ontology:DOID:0060536); combined oxidative phosphorylation deficiency 24 (Disease Ontology:DOID:0111485); autosomal recessive nonsyndromic deafness 94 (Disease Ontology:DOID:0111641)", "pathway": " (hsa:79731); (R-HSA-379726)", "pathway_count": 2, "publication_count": 48, "publication_id_list": "10329163;10684970;10764807;10828066;11237011;12690580;15274629;15779907;16300924;17384640;17847012;19608861;23481700;25385316;25418920;25629079;25649651;25807530;26992070;27920218;28904123;29393594;29557506;29632046;30088171;30379171;31217245;31844290;32157095;32265295;32350084;33596490;33691108;33912179;33936100;33968037;34171305;34357683;35558980;36241641;36252909;38310242;40596516;40914422;7755634;8078941;9278442;9466989", "class_list": "", "function": "A variant in NARS2 results in a combined OXPHOS complex deficiency involving complex I and IV, making NARS2 a new member of disease-associated aminoacyl-tRNA synthetases., [RefSeq, PubMed]; 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]; Mitochondrial aminoacyl-tRNA synthetase that catalyzes the specific attachment of the asparagine amino acid (aa) to the homologous transfer RNA (tRNA), further participating in protein synthesis (PubMed:25385316). The reaction occurs in a two steps: asparagine is first activated by ATP to form Asn-AMP and then transferred to the acceptor end of tRNA(Asn) (Probable)., [UniProtKB, PubMed]; NARS2 expression is reduced in AD brain tissue compared with controls. NARS2 expression in brain is associated with GAB2 AD risk variant rs2373115., [RefSeq, PubMed]; Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability., [RefSeq, PubMed]; The phenotypic variability and natural history of NARS2 associated disease., [RefSeq, PubMed]; This gene encodes a putative member of the class II family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of asparagine to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 24 (COXPD24). [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": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "G3V178", "ec_number_list": [ { "id": "6.1.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.22", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0003676 nucleic acid binding;GO:0004816 asparagine-tRNA ligase activity;GO:0004812 aminoacyl-tRNA ligase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006421 asparaginyl-tRNA aminoacylation;GO:0006418 tRNA aminoacylation for protein translation;GO:0006412 translation", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q96I59-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TBP0-1", "uniprot_id": [ { "id": "TBC16_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TBP0", "type": "external" } ], "mass": 86372.0, "length": 767, "protein_name": "TBC1 domain family member 16", "gene_name": "TBC1D16", "organism": "Human", "refseq_name": "TBC1 domain family member 16 isoform b", "refseq_ac": [ { "id": "NP_001258773", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258773", "type": "external" } ], "gene_names_uniprotkb": "TBC1D16", "gene_names_refseq": "TBC1D16", "protein_names_uniprotkb": "TBC1 domain family member 16", "protein_names_refseq": "CTD-2529O21.1; TBC1 domain family member 16 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:125058); (R-HSA-8854214)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "10202141;11237011;16055087;16395330;17658474;17901050;18199687;18319245;18466115;19077034;20095038;20116244;20363736;20404108;21129771;21383079;21458671;22219378;22613832;22762500;22795129;22854040;23019362;23562278;25418920;25645385;26030178;27543614;27600516;27920218;28276657;28904123;29962380;31383000;32488085;32502341;32938616;33476656;34367131;35051231", "class_list": "", "function": "Bipolar disorder participants with a history of Suicidal behavior showed less overall methylation in the intron 3 of TRE2/BUB2/CDC16 domain family member 16 (TBC1D16)., [RefSeq, PubMed]; Findings suggest characteristic DNA methylation changes in TBC1D16 is relatively common tumor-associated epigenetic events in multiple tumor types, which is consistent with a potential role as more general drivers of tumor progression. Publication Status: Online-Only, [RefSeq, PubMed]; May act as a GTPase-activating protein for Rab family protein(s)., [UniProtKB]; Novel Host Protein TBC1D16, a GTPase Activating Protein of Rab5C, Inhibits Prototype Foamy Virus Replication. Publication Status: Online-Only, [RefSeq, PubMed]; RAB5C is identified as a new TBC1D16 target and showed that it regulates EGFR in melanoma cells., [RefSeq, PubMed]; TBC1D16 and RAB27A, were identified known drivers of melanoma both are involved in the regulation of vesicular trafficking, which highlights this process as important for proliferation in melanoma., [RefSeq, PubMed]; TBC1D16 is a GTPase activating protein for Rab4A that regulates transferrin receptor recycling and EGFR trafficking and signaling., [RefSeq, PubMed]; TBC1D16 is a predictive marker for favorable prognosis of Epithelial ovarian cancer., [RefSeq, PubMed]; TBC1D16 predicts chemosensitivity and prognosis in adult acute myeloid leukemia (AML) 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": 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": "B9A6L7;I3L1E0;I3L4U2;Q8N3Z4;Q96DH7", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005769 early endosome;GO:0005829 cytosol", "go_biological_process": "GO:0001919 regulation of receptor recycling", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q8TBP0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P61165-1", "uniprot_id": [ { "id": "TM258_HUMAN", "url": "https://www.uniprot.org/uniprot/P61165", "type": "external" } ], "mass": 9079.0, "length": 79, "protein_name": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TMEM258", "gene_name": "TMEM258", "organism": "Human", "refseq_name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TMEM258", "refseq_ac": [ { "id": "NP_055021", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055021", "type": "external" } ], "gene_names_uniprotkb": "TMEM258; C11orf10; HSPC005", "gene_names_refseq": "C11orf10; Kuduk; Kud; TMEM258", "protein_names_uniprotkb": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TMEM258; Oligosaccharyl transferase subunit TMEM258; Transmembrane protein 258", "protein_names_refseq": "UPF0197 transmembrane protein C11orf10; dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TMEM258; oligosaccharyl transferase subunit TMEM258", "tax_id": 9606, "disease": "", "pathway": " (hsa:746); (R-HSA-446203); (R-HSA-9694548); (R-HSA-9768727); (R-HSA-9918432); (R-HSA-9931295)", "pathway_count": 6, "publication_count": 119, "publication_id_list": "10228156;11237011;11470266;12089159;12171918;12427278;12665801;12678917;12893276;14514716;14688233;16317064;17261850;18491227;19835842;19913121;20562440;20628086;20798515;22223895;22375065;22424782;22915798;23481700;24112972;24681004;24715725;24966173;25418920;25576301;25892735;26154972;26208004;26416966;26472760;26992070;27255086;27383988;27572267;27600516;27974209;28228285;28228593;2834401;28510447;28512129;28716842;28832583;28834231;28860189;28904123;29242379;29493099;29508533;29557506;29632046;29765039;29769354;30118680;30315122;30524438;31154438;31217245;31305264;31831667;31844290;31848261;31937595;31998317;32157095;32357974;32363391;32366695;32387766;32502341;32518941;32676595;32897882;32938616;32983136;33123756;33141586;33310888;33537174;33592498;33691108;33717175;33912179;33936100;33968037;34087483;34117209;34171305;34405274;34428449;34509645;34528721;34599882;34932366;34961524;35051231;35215835;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;36697828;36719382;37938771;38670073;38793607;6156677;7072193;7982500;7986008", "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, PubMed]; 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, PubMed, 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A8K6L8;Q9D953;Q9Y2Q7", "ec_number_list": [], "go_molecular_function": "GO:0062062 oligosaccharyltransferase complex binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0008250 oligosaccharyltransferase complex", "go_biological_process": "GO:0006487 protein N-linked glycosylation;GO:0009306 protein secretion;GO:0034976 response to endoplasmic reticulum stress", "synthesized_glycan_count": 0, "hit_score": 12.2, "record_id": "P61165-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VX71-1", "uniprot_id": [ { "id": "SUSD4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VX71", "type": "external" } ], "mass": 53778.0, "length": 490, "protein_name": "Sushi domain-containing protein 4", "gene_name": "SUSD4", "organism": "Human", "refseq_name": "sushi domain-containing protein 4 isoform b precursor", "refseq_ac": [ { "id": "NP_001032252", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032252", "type": "external" } ], "gene_names_uniprotkb": "SUSD4; PRO222", "gene_names_refseq": "PRO222; SUSD4", "protein_names_uniprotkb": "Sushi domain-containing protein 4", "protein_names_refseq": "YHGM196; sushi domain-containing protein 4 isoform b precursor; sushi domain-containing protein 4; testicular secretory protein Li 55", "tax_id": 9606, "disease": "", "pathway": " (hsa:55061)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12975309;20237496;20348246;23482636;26480818;29557506;35051231;36578014;38579174", "class_list": "", "function": "Acts as a complement inhibitor by disrupting the formation of the classical C3 convertase. Isoform 3 inhibits the classical complement pathway, while membrane-bound isoform 1 inhibits deposition of C3b via both the classical and alternative complement pathways., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB]; Analysis of cloning, expression, refolding, and tissue distribution of Sushi domain-containing protein 4, [RefSeq, PubMed]; Membrane-bound isoform SUSD4a inhibits the classical and alternative complement pathways when expressed on the surface of Chinese hamster cells but not when expressed as a soluble, truncated protein., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Pan-cancer analysis of Sushi domain-containing protein 4 (SUSD4) and validated in colorectal cancer., [RefSeq, PubMed]; SUSD4 expression in both breast cancer cells and T cells infiltrating the tumor-associated stroma is useful to predict better prognosis of breast cancer patients. Publication Status: Online-Only, [RefSeq, PubMed]; Sushi domain-containing protein 4 binds to epithelial growth factor receptor and initiates autophagy in an EGFR phosphorylation independent manner. 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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "D3DTB9;Q6UX62;Q9BSR0;Q9NWG0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0045211 postsynaptic membrane;GO:0098688 parallel fiber to Purkinje cell synapse;GO:0016020 membrane", "go_biological_process": "GO:0045087 innate immune response;GO:0045959 negative regulation of complement activation, classical pathway;GO:0045957 negative regulation of complement activation, alternative pathway;GO:0006958 complement activation, classical pathway;GO:0030449 regulation of complement activation", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q5VX71-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N434-1", "uniprot_id": [ { "id": "SVOPL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N434", "type": "external" } ], "mass": 53991.0, "length": 492, "protein_name": "Putative transporter SVOPL", "gene_name": "SVOPL", "organism": "Human", "refseq_name": "putative transporter SVOPL isoform 1", "refseq_ac": [ { "id": "NP_001132928", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001132928", "type": "external" } ], "gene_names_uniprotkb": "SVOPL", "gene_names_refseq": "SLC22B5; SVOPL", "protein_names_uniprotkb": "Putative transporter SVOPL; SV2-related protein-like; SVOP-like protein", "protein_names_refseq": "SV2 related protein homolog-like; putative transporter SVOPL isoform 1; putative transporter SVOPL; solute carrier family 22 member B5", "tax_id": 9606, "disease": "", "pathway": " (hsa:136306)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "10.1101/2023.09.13.557529;11237011;17714910;30484775;30779550;31844290;34185709;35051231;35318648;36215666;36241641;39894887", "class_list": "glycogene", "function": "The protein encoded by this gene is thought to be a member of solute carrier family 22, which includes transmembrane proteins that transport toxins and drugs from the body. This gene is a paralog of the SVOP gene that encodes synaptic vesicle 2-related protein. [provided by RefSeq, Sep 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 729, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q8N434-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00338-1", "uniprot_id": [ { "id": "ST1C2_HUMAN", "url": "https://www.uniprot.org/uniprot/O00338", "type": "external" } ], "mass": 34880.0, "length": 296, "protein_name": "Sulfotransferase 1C2", "gene_name": "SULT1C2", "organism": "Human", "refseq_name": "sulfotransferase 1C2 isoform a", "refseq_ac": [ { "id": "NP_001047", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001047", "type": "external" } ], "gene_names_uniprotkb": "SULT1C2; SULT1C1", "gene_names_refseq": "ST1C1; ST1C2; SULT1C1; SULT1C2; humSULTC2", "protein_names_uniprotkb": "Sulfotransferase 1C2; 2.8.2.1; ST1C2; SULT1C#1; Sulfotransferase 1C1; humSULTC2", "protein_names_refseq": "SULT1C#1; sulfotransferase 1C1; sulfotransferase 1C2 isoform a; sulfotransferase 1C2; sulfotransferase family, cytosolic, 1C, member 1; sulfotransferase family, cytosolic, 1C, member 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:6819); (R-HSA-156584)", "pathway_count": 2, "publication_count": 46, "publication_id_list": "10199779;10224133;10481272;10503886;10512730;10783263;11077054;11154739;11237011;11457664;11739018;12039030;12145317;12372849;12889478;14622112;14672934;15358107;16804942;18606703;18672380;2268288;23479625;23481380;24335393;26154972;27130351;27600516;29557506;30379171;31844290;32157095;35010676;6139755;6770210;7678732;7779757;8185618;8697101;9034160;9169148;9463486;9501187;9566739;9635888;9852044", "class_list": "", "function": "Our findings are the first to characterize the regulation of human SULT1C2 and SULT1C3 expression by several transcription factor activators., [RefSeq, PubMed]; Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a protein that belongs to the SULT1 subfamily, responsible for transferring a sulfo moiety from PAPS to phenol-containing compounds. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the sulfate conjugation of phenolic compounds (PubMed:10481272, PubMed:10783263, PubMed:9852044). Does not transfer sulfate to steroids, dopamine, acetaminophen, or alpha-naphthol (PubMed:10481272, PubMed:9852044). Except in mitochondria, where it can add sulfate to cholesterol producing cholesterol sulfate, which alters mitochondrial membrane organization, and impacts protein complex mobility increasing state-III respiration, thereby modulating mitochondrial respiration (By similarity). Catalyzes the sulfation of the carcinogenic N-hydroxy-2-acetylaminofluorene leading to highly reactive intermediates capable of forming DNA adducts, potentially resulting in mutagenesis (PubMed:9852044)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; The Sulfotransferase SULT1C2 Is Epigenetically Activated and Transcriptionally Induced by Tobacco Exposure and Is Associated with Patient Outcome in Lung Adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Vitamin D receptor can interact directly with the SULT1C2 VDRE sequence to transcriptionally regulation SULT1C2 expression in colorectal tumor 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": 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": 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": "B2R813;Q53SG4", "ec_number_list": [ { "id": "2.8.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.2", "type": "external" }, { "id": "2.8.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.-", "type": "external" }, { "id": "2.8.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.1", "type": "external" }, { "id": "2.8.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.4", "type": "external" }, { "id": "2.8.2.14", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.14", "type": "external" }, { "id": "2.8.2.n2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.n2", "type": "external" } ], "go_molecular_function": "GO:0008146 sulfotransferase activity;GO:0004062 aryl sulfotransferase activity;GO:0051922 cholesterol sulfotransferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0005764 lysosome", "go_biological_process": "GO:0051923 sulfation;GO:0009308 amine metabolic process;GO:0006790 sulfur compound metabolic process", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "O00338-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P10828-1", "uniprot_id": [ { "id": "THB_HUMAN", "url": "https://www.uniprot.org/uniprot/P10828", "type": "external" } ], "mass": 52788.0, "length": 461, "protein_name": "Thyroid hormone receptor beta", "gene_name": "THRB", "organism": "Human", "refseq_name": "thyroid hormone receptor beta isoform a", "refseq_ac": [ { "id": "NP_000452", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000452", "type": "external" } ], "gene_names_uniprotkb": "THRB; ERBA2; NR1A2; THR1", "gene_names_refseq": "C-ERBA-2; C-ERBA-BETA; ERBA2; GRTH; NR1A2; PRTH; THR1; THRB1; THRB2; THRB; THRbeta1; THRbeta; TRbeta1; TRbeta; TRb; Thrbeta2", "protein_names_uniprotkb": "Thyroid hormone receptor beta; Nuclear receptor subfamily 1 group A member 2; c-erbA-2; c-erbA-beta", "protein_names_refseq": "nuclear receptor subfamily 1 group A member 2; oncogene ERBA2; thyroid hormone receptor beta isoform a; thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)", "tax_id": 9606, "disease": "selective pituitary thyroid hormone resistance (Disease Ontology:DOID:0111374); prostate cancer (Disease Ontology:DOID:10283); attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); thyroid hormone resistance syndrome (Disease Ontology:DOID:11633); breast cancer (Disease Ontology:DOID:1612); breast carcinoma (Disease Ontology:DOID:3459); follicular thyroid carcinoma (Disease Ontology:DOID:3962); renal cell carcinoma (Disease Ontology:DOID:4450); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991)", "pathway": " (hsa:7068); (R-HSA-383280); (R-HSA-4090294)", "pathway_count": 3, "publication_count": 85, "publication_id_list": "10235266;10542397;10660344;10713182;10749684;11121022;11237011;11865025;11971969;12039952;12077349;12144530;12177000;12511610;12554782;12699376;12809513;1314846;1324420;14500761;14673100;15105435;15175151;15192080;15192092;15466465;1563081;1587388;15896744;15923626;15961505;1619012;1653889;1661299;16751179;16781732;16804041;16912044;17020914;17105732;17218271;17314004;17418816;17717077;18237438;1846005;18798561;19041634;19211567;19268523;19692572;1973914;19850744;19864602;19926848;19955185;20078863;20159957;20719936;21264968;21467194;2153155;22930759;23546875;2510172;25114211;2879243;3034496;33392160;34397273;35051231;36499571;36537819;37149816;7200565;7528740;7746322;7833659;8013151;8175986;8381821;8514853;8664910;8889584;9653119", "class_list": "", "function": "Atrial Fibrillation with Heart Failure in a Case with Resistance to Thyroid Hormone Due to a Rare Thyroid Hormone Receptor beta Gene Mutation. Publication Status: Online-Only, [RefSeq, PubMed]; Effect of the Fetal THRB Genotype on the Placenta., [RefSeq, PubMed]; Low THRB (thyroid hormone receptor beta) Promoter Methylation Levels in Peripheral Blood Leukocytes Induced By Systematic Inflammation Are Involved in Low Thyroid Hormone Function in Metabolic Syndrome., [RefSeq, PubMed]; Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Mutations in this gene are known to be a cause of generalized thyroid hormone resistance (GTHR), a syndrome characterized by goiter and high levels of circulating thyroid hormone (T3-T4), with normal or slightly elevated thyroid stimulating hormone (TSH). Several alternatively spliced transcript variants encoding the same protein have been observed for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Thyroid hormone Beta receptor agonists for treatment of kidney disease: A promising agent? 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": 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_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": 2, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 12, "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": "B3KU79;P37243;Q13986;Q3KP35;Q6WGL2;Q9UD41", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0019899 enzyme binding;GO:0070324 thyroid hormone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016604 nuclear body;GO:0000785 chromatin;GO:0090575 RNA polymerase II transcription regulator complex", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0030154 cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0048384 retinoic acid receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "P10828-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000010000001.010.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P28347-1", "uniprot_id": [ { "id": "TEAD1_HUMAN", "url": "https://www.uniprot.org/uniprot/P28347", "type": "external" } ], "mass": 47946.0, "length": 426, "protein_name": "Transcriptional enhancer factor TEF-1", "gene_name": "TEAD1", "organism": "Human", "refseq_name": "transcriptional enhancer factor TEF-1", "refseq_ac": [ { "id": "NP_068780", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068780", "type": "external" } ], "gene_names_uniprotkb": "TEAD1; TCF13; TEF1", "gene_names_refseq": "AA; NTEF-1; REF1; TCF-13; TCF13; TEAD-1; TEAD1; TEF-1", "protein_names_uniprotkb": "Transcriptional enhancer factor TEF-1; NTEF-1; Protein GT-IIC; TCF-13; TEA domain family member 1; TEAD-1; Transcription factor 13", "protein_names_refseq": "TEA domain family member 1 (SV40 transcriptional enhancer factor); protein GT-IIC; transcription factor 13; transcriptional enhancer factor 1; transcriptional enhancer factor TEF-1", "tax_id": 9606, "disease": "Sveinsson chorioretinal atrophy (Disease Ontology:DOID:0111228)", "pathway": " (hsa:7003); (R-HSA-2032785); (R-HSA-8951671); (R-HSA-9619665); (R-HSA-9909649)", "pathway_count": 5, "publication_count": 154, "publication_id_list": "10203854;10220111;10228168;10400691;10587520;10727776;10757804;10856243;10931933;11115854;11133365;11157804;11237011;11356866;11394999;11430795;11430802;11734543;11782409;12056842;12145339;12198163;12782656;12799134;14512514;14522948;14664827;15016762;15150276;15189448;15356632;15610069;15695336;15836632;15907797;16136673;16311519;16319321;16332960;16373334;16923174;1704008;17085591;17325040;17699610;17959798;1851669;18579750;18634568;18803322;19088198;19143832;19156870;19321787;19324876;19324877;19745155;1975954;19922439;20110263;20123905;20149798;20213556;20625412;2070413;20832498;21044070;21326363;21411665;21423190;21423191;21613327;21653862;22053691;22180461;22333914;22492709;22764250;22814607;23186163;23695165;23747866;23874858;24191038;24227709;24646194;24675079;25974668;26364597;26423937;26441514;26992070;27220739;27288457;27600516;27859941;27920218;28832583;28852375;29393594;29557506;29748249;29786170;30059200;30385408;30418433;30779550;31154438;31492838;31844290;32157095;32161166;32183950;32357974;32387766;32488085;32860047;32938616;33214551;33592498;33968037;34087483;34171305;34405274;34725712;35051231;35289036;35513511;35580925;36010968;36284347;37917410;38225750;38512451;38670107;38740637;39534244;40596516;7925941;7935840;8138712;8349731;8619637;8627307;8647822;8662541;8842374;9418958;9482253;9584153;9651244;9705348;9748295;9858769", "class_list": "", "function": "MKLN1-AS promotes pancreatic cancer progression as a crucial downstream mediator of HIF-1alpha through miR-185-5p/TEAD1 pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Mechanosignaling YAP/TAZ-TEAD Axis Regulates the Immunomodulatory Properties of Mesenchymal Stem Cells., [RefSeq, PubMed]; SUMOylation of TEAD1 Modulates the Mechanism of Pathological Cardiac Hypertrophy., [RefSeq, PubMed]; TEAD1 has non-AUG translation initiation, [RefSeq, PubMed]; TM7SF3 controls TEAD1 splicing to prevent MASH-induced liver fibrosis., [RefSeq, PubMed]; This gene encodes a ubiquitous transcriptional enhancer factor that is a member of the TEA/ATTS domain family. This protein directs the transactivation of a wide variety of genes and, in placental cells, also acts as a transcriptional repressor. Mutations in this gene cause Sveinsson's chorioretinal atrophy. Additional transcript variants have been described but their full-length natures have not been experimentally verified. [provided by RefSeq, May 2010]., [RefSeq]; Transcription factor which plays a key role in the Hippo signaling pathway, a pathway involved 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 MST1/MST2, 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. Acts by mediating gene expression of YAP1 and WWTR1/TAZ, thereby regulating cell proliferation, migration and epithelial mesenchymal transition (EMT) induction. Binds specifically and cooperatively to the SPH and GT-IIC 'enhansons' (5'-GTGGAATGT-3') and activates transcription in vivo in a cell-specific manner. The activation function appears to be mediated by a limiting cell-specific transcriptional intermediary factor (TIF). Involved in cardiac development. Binds to the M-CAT motif., [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": 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": 2, "reported_glycation": 0, "reported_snv": 13, "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": "A4FUP2;E7EV65", "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:0005654 nucleoplasm;GO:0005667 transcription regulator complex;GO:0000785 chromatin;GO:0140552 TEAD-YAP complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0030307 positive regulation of cell growth;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0035329 hippo signaling", "synthesized_glycan_count": 0, "hit_score": 16.0, "record_id": "P28347-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15431-1", "uniprot_id": [ { "id": "SYCP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15431", "type": "external" } ], "mass": 114192.0, "length": 976, "protein_name": "Synaptonemal complex protein 1", "gene_name": "SYCP1", "organism": "Human", "refseq_name": "synaptonemal complex protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001269470", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269470", "type": "external" } ], "gene_names_uniprotkb": "SYCP1; SCP1", "gene_names_refseq": "CT8; HOM-TES-14; SCP-1; SCP1; SYCP1", "protein_names_uniprotkb": "Synaptonemal complex protein 1; CT8; Cancer/testis antigen 8; SCP-1", "protein_names_refseq": "cancer/testis antigen 8; synaptonemal complex protein 1 isoform 1; testicular tissue protein Li 191", "tax_id": 9606, "disease": "", "pathway": " (hsa:6847); (R-HSA-1221632)", "pathway_count": 2, "publication_count": 23, "publication_id_list": "11237011;11673449;15125634;15235794;18083107;19146767;20634189;25576301;26323297;27548613;29557506;29915389;30379171;35051231;35377450;35580925;36635604;38740147;8794855;9008167;9119375;9285814;9371398", "class_list": "", "function": "A rare frameshift mutation in SYCP1 is associated with human male infertility., [RefSeq, PubMed]; Crystal structure of C-terminal coiled-coil domain of SYCP1 reveals non-canonical anti-parallel dimeric structure of transverse filament at the synaptonemal complex. Publication Status: Online-Only, [RefSeq, PubMed]; Crystal structure of the middle part of the human synaptonemal complex protein 1 coiled-coil domain, [RefSeq, PubMed]; Major component of the transverse filaments of synaptonemal complexes, formed between homologous chromosomes during meiotic prophase. Required for normal assembly of the central element of the synaptonemal complexes. Required for normal centromere pairing during meiosis. Required for normal meiotic chromosome synapsis during oocyte and spermatocyte development and for normal male and female fertility., [UniProtKB, UniProtKB]; SYCP1 has an obligate tetrameric structure in which an N-terminal four-helical bundle bifurcates into two elongated C-terminal dimeric coiled-coils. This building block assembles into a zipper-like lattice through two self-assembly sites. N-terminal sites undergo cooperative head-to-head assembly in the midline, while C-terminal sites interact back to back on the chromosome 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": 1, "reported_mutagensis": 8, "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": "O14963;Q5VXJ6", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003690 double-stranded DNA binding", "go_cellular_component": "GO:0000801 central element;GO:0000794 condensed nuclear chromosome;GO:0000775 chromosome, centromeric region;GO:0001673 male germ cell nucleus;GO:0005694 chromosome", "go_biological_process": "GO:0007283 spermatogenesis;GO:0051289 protein homotetramerization;GO:0051301 cell division;GO:0007130 synaptonemal complex assembly;GO:0007129 homologous chromosome pairing at meiosis", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q15431-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60830-1", "uniprot_id": [ { "id": "TI17B_HUMAN", "url": "https://www.uniprot.org/uniprot/O60830", "type": "external" } ], "mass": 18273.0, "length": 172, "protein_name": "Mitochondrial import inner membrane translocase subunit Tim17-B", "gene_name": "TIMM17B", "organism": "Human", "refseq_name": "mitochondrial import inner membrane translocase subunit Tim17-B isoform 1", "refseq_ac": [ { "id": "NP_001161419", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161419", "type": "external" } ], "gene_names_uniprotkb": "TIMM17B; JM3; TIM17B", "gene_names_refseq": "DXS9822; JM3; TIM17B; TIMM17B", "protein_names_uniprotkb": "Mitochondrial import inner membrane translocase subunit Tim17-B", "protein_names_refseq": "inner mitochondrial membrane preprotein translocase; mitochondrial import inner membrane translocase subunit Tim17-B isoform 1; mitochondrial import inner membrane translocase subunit Tim17-B; translocase of inner mitochondrial membrane 17 homolog B", "tax_id": 9606, "disease": "", "pathway": " (hsa:10245); (R-HSA-1268020)", "pathway_count": 2, "publication_count": 83, "publication_id_list": "10339406;11237011;14726512;15254020;15644312;15683237;16185709;16362076;16849325;17510655;18174896;18678864;19409522;19453276;19767391;19962426;20593814;21750375;21947777;22424782;23041349;23263864;23481700;23597483;23811401;24715725;25315652;25418920;25576301;25880248;26154972;26697887;26811146;26929215;26992070;27265872;28218747;28510447;28832583;28904123;29242379;29331515;29393594;29493099;29557506;29632046;29789417;30484775;30524438;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31937595;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33691108;33912179;33936100;33968037;34087483;34171305;34211107;34357683;34561969;35051231;35318648;35561310;36010968;36215666;36241641", "class_list": "", "function": "Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The findings of this study together provide the first evidence that EspZ localizes to host mitochondria and that TIM17b contributes to protection against rapid cell death during EPEC infection., [RefSeq, PubMed]; This gene encodes a multipass transmembrane protein that forms an integral component of the mitochondrial translocase TIM23 complex. This complex facilitates the transport of mitochondrial proteins from the cytosol across the mitochondrial inner membrane and into the mitochondrion. There is a pseudogene for this gene on chromosome 12. 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": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A8K2E2;J3KPV3;Q9UJV0", "ec_number_list": [], "go_molecular_function": "GO:0008320 protein transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005744 TIM23 mitochondrial import inner membrane translocase complex", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0006626 protein targeting to mitochondrion;GO:0030150 protein import into mitochondrial matrix", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "O60830-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2M2-2", "uniprot_id": [ { "id": "SSUH2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2M2", "type": "external" } ], "mass": 42732.0, "length": 375, "protein_name": "Protein SSUH2 homolog", "gene_name": "SSUH2", "organism": "Human", "refseq_name": "protein SSUH2 homolog isoform 1", "refseq_ac": [ { "id": "NP_001243677", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243677", "type": "external" } ], "gene_names_uniprotkb": "SSUH2; C3orf32; FLS485", "gene_names_refseq": "C3orf32; DTDP1C; SSU-2; SSUH2; fls485", "protein_names_uniprotkb": "Protein SSUH2 homolog; Protein ssu-2 homolog", "protein_names_refseq": "protein SSUH2 homolog isoform 1; protein SSUH2 homolog; protein ssu-2 homolog", "tax_id": 9606, "disease": "dentin dysplasia (Disease Ontology:DOID:701)", "pathway": " (hsa:51066)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "20205943;27680507", "class_list": "", "function": "Expression and synthesis of fls485 are found in surface lining epithelia of normal human intestinal mucosa and deriving epithelial cell lines. Publication Status: Online-Only, [RefSeq, PubMed]; Our observations demonstrate that SSUH2 disrupts dental formation and that this novel gene, together with other odontogenesis genes, is involved in tooth development., [RefSeq, PubMed]; Plays a role in odontogenesis., [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": 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": "A6NFA9;B3KS84;B7Z6E3;F5H2S5;Q7Z7K4", "ec_number_list": [], "go_molecular_function": "GO:0051082 unfolded protein binding;GO:0031072 heat shock protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0042476 odontogenesis", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q9Y2M2-2", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "B9A6J9-1", "uniprot_id": [ { "id": "TBC3L_HUMAN", "url": "https://www.uniprot.org/uniprot/B9A6J9", "type": "external" } ], "mass": 62187.0, "length": 549, "protein_name": "TBC1 domain family member 3L", "gene_name": "TBC1D3L", "organism": "Human", "refseq_name": "TBC1 domain family member 3L isoform 2", "refseq_ac": [ { "id": "NP_001278388", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278388", "type": "external" } ], "gene_names_uniprotkb": "TBC1D3L; PRC17", "gene_names_refseq": "TBC1D3L", "protein_names_uniprotkb": "TBC1 domain family member 3L", "protein_names_refseq": "TBC1 domain family member 3L isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:101060376)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "19077034;21030649", "class_list": "", "function": "Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (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": 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:0005096 GTPase activator activity", "go_cellular_component": "GO:0005768 endosome;GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "B9A6J9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXJ8-1", "uniprot_id": [ { "id": "TACAN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXJ8", "type": "external" } ], "mass": 40610.0, "length": 343, "protein_name": "Transmembrane protein 120A", "gene_name": "TMEM120A", "organism": "Human", "refseq_name": "transmembrane protein 120A isoform 1", "refseq_ac": [ { "id": "NP_114131", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_114131", "type": "external" } ], "gene_names_uniprotkb": "TMEM120A; TACAN; TMPIT", "gene_names_refseq": "NET29; TACAN; TMEM120A; TMPIT", "protein_names_uniprotkb": "Transmembrane protein 120A; Protein TACAN; Transmembrane protein induced by tumor necrosis factor alpha", "protein_names_refseq": "ion channel TACAN; transmembrane protein 120A isoform 1; transmembrane protein induced by tumor necrosis factor alpha", "tax_id": 9606, "disease": "", "pathway": " (hsa:83862)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "11237011;23481700;25418920;26024229;28218747;28514659;28832583;28904123;29242379;29437277;31844290;32938616;32983136;33298915;33936100;33968037;34374645;34409941;34465718;34932366;35013224;35051231;35235791;36010968;36241641;36420836", "class_list": "", "function": "Cryo-EM structure of the human TACAN in a closed state., [RefSeq, PubMed]; Gain-of-function genetic screening identifies the antiviral function of TMEM120A via STING activation. Publication Status: Online-Only, [RefSeq, PubMed]; Multifunctional protein involved in mechanosensation, and plays an essential role in lipid metabolism and adipocyte differentiation (PubMed:26024229, PubMed:36420836). May function as a potential ion channel involved in sensing mechanical stimuli (PubMed:35235791). Mediates the mechanosensitivity of the PKD2-TMEM120A channel complex through direct physical interaction (PubMed:36420836). TMEM120A seems to affect mechanosensation by inhibiting PIEZO2 channels, possibly by altering cellular lipid content (By similarity). TMEM120A is structurally similar to a lipid-modifying enzyme, ELOVL7, and contains a bound coenzyme A molecule, which suggests it might function as an enzyme in lipid metabolism (PubMed:34374645, PubMed:34409941, PubMed:34465718). Additionally, implicated in innate immune response against Zika virus. Acts as a key activator of the antiviral signaling involving STING1 (PubMed:35013224)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q86TE9;Q8N6P1", "ec_number_list": [], "go_molecular_function": "GO:0120225 coenzyme A binding;GO:0005216 monoatomic ion channel activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005637 nuclear inner membrane", "go_biological_process": "GO:0051260 protein homooligomerization;GO:0051291 protein heterooligomerization;GO:0034220 monoatomic ion transmembrane transport;GO:0045444 fat cell differentiation;GO:0050966 detection of mechanical stimulus involved in sensory perception of pain", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q9BXJ8-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P59541-1", "uniprot_id": [ { "id": "T2R30_HUMAN", "url": "https://www.uniprot.org/uniprot/P59541", "type": "external" } ], "mass": 36874.0, "length": 319, "protein_name": "Taste receptor type 2 member 30", "gene_name": "TAS2R30", "organism": "Human", "refseq_name": "taste receptor type 2 member 30", "refseq_ac": [ { "id": "NP_001091112", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091112", "type": "external" } ], "gene_names_uniprotkb": "TAS2R30; TAS2R47", "gene_names_refseq": "T2R30; T2R47; TAS2R30; TAS2R47", "protein_names_uniprotkb": "Taste receptor type 2 member 30; T2R30; T2R47; Taste receptor type 2 member 47", "protein_names_refseq": "taste receptor T2R47; taste receptor type 2 member 30; taste receptor type 2 member 47; taste receptor, type 2, member 30; type 2 taste receptor member 30; type 2 taste receptor member 47", "tax_id": 9606, "disease": "", "pathway": " (hsa:259293); (R-HSA-418594); (R-HSA-420499); (R-HSA-9717207)", "pathway_count": 4, "publication_count": 79, "publication_id_list": "10.1101/2023.09.13.557529;10761935;11007482;11208605;11696554;11917125;12015988;12120503;12139982;12379855;12581520;1325650;1329206;14634208;15194188;15353592;15385606;15496549;15576628;15738140;15951850;16634148;16923326;17167479;17506496;18434541;18577758;19104071;19696921;20022913;20033988;20555319;21148030;21422378;21795555;23121374;23632330;23674604;24157691;24214976;24235081;24360415;24633359;2534964;25853419;26377607;27071541;2748346;28256214;2834384;29466837;29614098;29659026;29741879;29744740;30013099;30563861;31844290;33392160;33968037;7476890;7617140;7620613;7623957;7720699;7759551;7908515;7937899;8015379;8288584;8406495;8887960;9065781;9131252;9144337;9144651;9473604;9844003;9872316", "class_list": "", "function": "Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (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": 9, "reported_interactions": 0, "missing_score": 9718, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q645X7", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0033038 bitter taste receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0001580 detection of chemical stimulus involved in sensory perception of bitter taste", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "P59541-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15399-1", "uniprot_id": [ { "id": "TLR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15399", "type": "external" } ], "mass": 90291.0, "length": 786, "protein_name": "Toll-like receptor 1", "gene_name": "TLR1", "organism": "Human", "refseq_name": "toll-like receptor 1 precursor", "refseq_ac": [ { "id": "NP_003254", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003254", "type": "external" } ], "gene_names_uniprotkb": "TLR1; KIAA0012", "gene_names_refseq": "CD281; TIL. LPRS5; TIL; TLR1; rsc786", "protein_names_uniprotkb": "Toll-like receptor 1; TIL; Toll/interleukin-1 receptor-like protein", "protein_names_refseq": "toll-like receptor 1 precursor; toll/interleukin-1 receptor-like protein", "tax_id": 9606, "disease": "leprosy (Disease Ontology:DOID:1024); pyelonephritis (Disease Ontology:DOID:11400); aspergillosis (Disease Ontology:DOID:13564); asthma (Disease Ontology:DOID:2841); pulmonary tuberculosis (Disease Ontology:DOID:2957); IgA glomerulonephritis (Disease Ontology:DOID:2986); tuberculosis (Disease Ontology:DOID:399); glucose metabolism disease (Disease Ontology:DOID:4194); primary immunodeficiency disease (Disease Ontology:DOID:612); collagen disease (Disease Ontology:DOID:854); perinatal necrotizing enterocolitis (Disease Ontology:DOID:8677); leprosy, susceptibility to, 5 (MONDO:MONDO:0013185)", "pathway": " (hsa:7096); (R-HSA-1236974); (R-HSA-1461957); (R-HSA-166058); (R-HSA-168179); (R-HSA-5602498); (R-HSA-5603041); (R-HSA-5686938); (R-HSA-9705671)", "pathway_count": 9, "publication_count": 187, "publication_id_list": "10.1101/2023.09.13.557529;10426996;10465784;10521347;10914484;11081518;11085990;11230166;11237011;11509636;11544529;11702237;11724772;11934878;11960013;12019269;12110890;12138165;12140561;12214235;12297423;12447441;12447442;12637671;12692549;12724322;12759408;12817025;14625308;15208624;15241424;15340161;15585605;15714590;15944945;16024789;16213021;16439361;16455995;16751103;16754682;16834340;16855214;16878026;16880211;17141195;17475868;17485511;17548585;17726518;17767165;17878161;17878374;17889651;17890055;17893200;18006661;18070880;18070982;18354232;18438411;18559343;18669862;18692471;18752252;18810425;18829464;18990700;19112167;19159218;19217269;19224918;19456232;19498957;19506249;19509286;19592493;19592497;19924287;20037584;20473308;20483750;20485341;20966070;21078852;21122132;21606490;21618349;21871094;22153078;22344226;22454496;22489132;22941947;23446148;23613522;24190977;24316379;24833748;24840642;25083866;25880347;27742543;28904123;29437277;29557506;30115681;30410026;31608988;31844290;31850239;32350084;32353859;32357974;32387766;32428392;32589897;32726803;32728199;32953130;32979938;32983136;33024073;33060197;33097660;33110251;33298915;33349665;33360543;33372174;33372854;33392160;33396605;33440148;33479219;33495715;33514628;33567255;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33912179;33963333;33989516;33990585;34021074;34054808;34084167;34110168;34166398;34171305;34239064;34290717;34341353;34357683;34375313;34400613;34439781;34452305;34471099;34502139;34509645;34597346;34928049;35031300;35051231;35102342;35580925;35643212;37051252;37074911;37359417;37479888;38196279;38296390;38378891;7685021;8837778;9008162;9430229;9435236;9541493", "class_list": "", "function": "A novel missense compound heterozygous variant in TLR1 gene is associated with susceptibility to rheumatoid arthritis - structural perspective and functional annotations., [RefSeq, PubMed]; Correlation of polymorphism in Toll-Like Receptor (TLR1 and TLR2) genes with susceptibility of pulmonary tuberculosis in Doda region of India., [RefSeq, PubMed]; Investigation of the association between the Toll-like receptor 1 rs4833095 variation and gastric adenocarcinoma recurrence., [RefSeq, PubMed]; Landscape of Cell Communication in Human Dental Pulp., [RefSeq, PubMed]; Participates in the innate immune response to microbial agents. Specifically recognizes diacylated and triacylated lipopeptides. Cooperates with TLR2 to mediate the innate immune response to bacterial lipoproteins or lipopeptides (PubMed:21078852). Forms the activation cluster TLR2:TLR1:CD14 in response to triacylated lipopeptides, this cluster triggers signaling from the cell surface and subsequently is targeted to the Golgi in a lipid-raft dependent pathway (PubMed:16880211). Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response., [UniProtKB, PubMed, 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 (PAMPs) 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. This gene is ubiquitously expressed, and at higher levels than other TLR genes. Different length transcripts presumably resulting from use of alternative polyadenylation site, and/or from alternative splicing, have been noted for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Toll-Like Receptor 1 Locus Re-examined in a Genome-Wide Association Study Update on Anti-Helicobacter pylori IgG Titers., [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": 3, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 34, "reported_interactions": 0, "missing_score": 9462, "biomarker_type": "", "glycan_count": 3, "disease_count": 12, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "D1CS39;D1CS41;O15452;Q32MK3;Q32MK4;Q9UG90", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0042802 identical protein binding;GO:0071723 lipopeptide binding;GO:0038023 signaling receptor activity;GO:0035663 Toll-like receptor 2 binding", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0044853 plasma membrane raft;GO:0045121 membrane raft", "go_biological_process": "GO:0001774 microglial cell activation;GO:0006954 inflammatory response;GO:0006955 immune response;GO:0007165 signal transduction;GO:0045087 innate immune response", "synthesized_glycan_count": 0, "hit_score": 19.6, "record_id": "Q15399-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXR0-1", "uniprot_id": [ { "id": "TGT_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXR0", "type": "external" } ], "mass": 44048.0, "length": 403, "protein_name": "Queuine tRNA-ribosyltransferase catalytic subunit 1", "gene_name": "QTRT1", "organism": "Human", "refseq_name": "queuine tRNA-ribosyltransferase catalytic subunit 1", "refseq_ac": [ { "id": "NP_112486", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112486", "type": "external" } ], "gene_names_uniprotkb": "QTRT1; TGT; TGUT", "gene_names_refseq": "FP3235; QTRT1; TGT; TGUT", "protein_names_uniprotkb": "Queuine tRNA-ribosyltransferase catalytic subunit 1; 2.4.2.64; Guanine insertion enzyme; tRNA-guanine transglycosylase", "protein_names_refseq": "TGT, 43-KD subunit; TGT, catalytic subunit; guanine insertion enzyme; queuine tRNA-ribosyltransferase 1; queuine tRNA-ribosyltransferase catalytic subunit 1; tRNA-guanine transglycosylase", "tax_id": 9606, "disease": "", "pathway": " (hsa:81890); (R-HSA-6782315)", "pathway_count": 2, "publication_count": 97, "publication_id_list": "10430867;10982862;11027153;11111046;11237011;11255023;12403464;15861136;15870694;15994936;16043508;16424344;17071714;18567810;19017811;19414587;20068231;20123966;20308323;20354154;20584901;21059936;21131277;22344696;22591353;22645359;22995836;23042678;23048041;23186163;23381944;23604283;24126054;24204302;24714562;24715725;24901367;25261850;25404562;25576301;25916855;26024233;26154972;26160102;26310293;26728094;26992070;27055666;27846572;27920218;28218747;28228285;28446606;28832583;28834231;28904123;29242379;29437277;29493099;29557506;29632046;30093495;30149595;30315122;30379171;30410026;30524438;30833945;31092671;31154438;31481669;31844290;31848261;32157095;32161166;32350084;32488085;32897882;32938616;33592498;33633747;33691108;33717175;33912179;33936100;33968037;34009357;34171305;34241577;34932366;35580925;36610787;37938771;38181786;38665916;9430663;9851972", "class_list": "", "function": "Catalytic subunit of the queuine tRNA-ribosyltransferase (TGT) that catalyzes the base-exchange of a guanine (G) residue with queuine (Q) at position 34 (anticodon wobble position) in tRNAs with GU(N) anticodons (tRNA-Asp, -Asn, -His and -Tyr), resulting in the hypermodified nucleoside queuosine (7-(((4,5-cis-dihydroxy-2-cyclopenten-1-yl)amino)methyl)-7-deazaguanosine) (PubMed:11255023, PubMed:20354154, PubMed:34009357, PubMed:34241577). Catalysis occurs through a double-displacement mechanism. The nucleophile active site attacks the C1' of nucleotide 34 to detach the guanine base from the RNA, forming a covalent enzyme-RNA intermediate. The proton acceptor active site deprotonates the incoming queuine, allowing a nucleophilic attack on the C1' of the ribose to form the product (By similarity). Modification of cytoplasmic tRNAs with queuosine controls the elongation speed of cognate codons, thereby ensuring the correct folding of nascent proteins to maintain proteome integrity (PubMed:30093495)., [UniProtKB, HAMAP, PubMed, PubMed, PubMed, PubMed, PubMed]; Phylogenetic and kinetic analyses support the conclusion that all tRNA-guanine transglycosylases have divergently evolved to specifically recognize their cognate heterocyclic substrates., [RefSeq, PubMed]; Structural and functional insights into tRNA recognition by human tRNA guanine transglycosylase., [RefSeq, PubMed]; TGT is composed of a catalytic subunit, QTRT1, and QTRTD1, not USP14. QTRTD1 has been implicated as the salvage enzyme that generates free queuine from QMP., [RefSeq, PubMed]; The human tRNA-guanine transglycosylase displays promiscuous nucleobase preference but strict tRNA specificity., [RefSeq, PubMed]; This gene encodes the catalytic subunit of tRNA-guanine transglycosylase. tRNA-guanine transglycosylase is a heterodimeric enzyme complex that plays a critical role in tRNA modification by synthesizing the 7-deazaguanosine queuosine, which is found in tRNAs that code for asparagine, aspartic acid, histidine and tyrosine. A pseudogene of this gene is located on the long arm of chromosome X. [provided by RefSeq, Feb 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DFM7;Q96BQ4;Q9BXQ9", "ec_number_list": [ { "id": "2.4.2.64", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.64", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0008479 tRNA-guanosine(34) queuine transglycosylase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0032473 cytoplasmic side of mitochondrial outer membrane", "go_biological_process": "GO:0002099 tRNA wobble guanine modification;GO:0006400 tRNA modification", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "Q9BXR0-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULP9-1", "uniprot_id": [ { "id": "TBC24_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULP9", "type": "external" } ], "mass": 62919.0, "length": 559, "protein_name": "TBC1 domain family member 24", "gene_name": "TBC1D24", "organism": "Human", "refseq_name": "TBC1 domain family member 24 isoform 2", "refseq_ac": [ { "id": "NP_065756", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065756", "type": "external" } ], "gene_names_uniprotkb": "TBC1D24; KIAA1171", "gene_names_refseq": "DEE16; DFNA65; DFNB86; DOORS; EIEE16; EIM; EPRPDC; FIME; TBC1D24; TLDC6", "protein_names_uniprotkb": "TBC1 domain family member 24", "protein_names_refseq": "Infantile myoclonic epilepsy; TBC/LysM-associated domain containing 6; TBC1 domain family member 24 isoform 2; deafness, autosomal dominant 65; skywalker homolog", "tax_id": 9606, "disease": "nonsyndromic deafness (Disease Ontology:DOID:0050563); myoclonic-atonic epilepsy (Disease Ontology:DOID:0060475); developmental and epileptic encephalopathy 16 (Disease Ontology:DOID:0080449); autosomal recessive nonsyndromic deafness 86 (Disease Ontology:DOID:0110532); autosomal dominant nonsyndromic deafness 65 (Disease Ontology:DOID:0110586); DOORS syndrome (Disease Ontology:DOID:0111627); Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome (Disease Ontology:DOID:0111645); neurodegenerative disease (Disease Ontology:DOID:1289); familial infantile myoclonic epilepsy (MONDO:MONDO:0011506)", "pathway": " (hsa:57465); (R-HSA-8854214)", "pathway_count": 2, "publication_count": 69, "publication_id_list": "10202141;11237011;16055087;16395330;17658474;17901050;18199687;18319245;18466115;19077034;20095038;20116244;20363736;20404108;20727515;20797691;21383079;21458671;22219378;22613832;22762500;22795129;22854040;23019362;23186163;23526554;23562278;24275569;24291220;24387994;24469796;24729539;24729547;25401298;25576301;25769375;26207815;26992070;27541164;27920218;28218747;28904123;29508533;29557506;30335140;31257402;31844290;32004315;32157095;32350084;32357974;32387766;32475639;32502341;32938616;32987832;33063868;33592498;33912179;33968037;33986365;34171305;34509645;35051231;35413638;36010968;38413761;38593795;39758816", "class_list": "", "function": "Investigation of a novel TBC1D24 variation causing autosomal dominant non-syndromic hearing loss. Publication Status: Online-Only, [RefSeq, PubMed]; May act as a GTPase-activating protein for Rab family protein(s) (PubMed:20727515, PubMed:20797691). Involved in neuronal projection development, probably through negative modulation of ARF6 function (PubMed:20727515). Required for the maintenance of postsynaptic neuron dendritic spines in the adult by suppressing ARF6 activity (PubMed:32004315). Involved in the regulation of synaptic vesicle trafficking (PubMed:31257402). Promotes axonal outgrowth and membrane trafficking at the growth cone (By similarity). Positively regulates radial migration and morphological maturation of pyramidal neurons during cortical development by preventing ARF6 activation (By similarity). In one study, has been shown to inhibit the activity of the vacuolar-type ATPase (V-ATPase) by inducing disassembly of the V-ATPase complex (PubMed:38593795). In another study, has been shown to positively regulate V-ATPase assembly in neurons which promotes acidification of lysosomes and synaptic vesicles (By similarity). This supports neuronal autophagy and also regulates synaptic vesicle reacidification and the maintenance of the synaptic vesicle reserve pool (By similarity). Protects neuronal cells against oxidative stress (PubMed:30335140). Involved in the maintainenance of endosomal-mediated vesicle recycling and sustained exocytosis of hair cell ribbon synapses (By similarity). Facilitates formation of tubular recycling endosomes which promotes recycling of clathrin-independent endocytosis cargo proteins back to the plasma membrane (PubMed:32475639)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; May act as a GTPase-activating protein for Rab family protein(s). Involved in neuronal projections development, probably through a negative modulation of ARF6 function. Involved in the regulation of synaptic vesicle trafficking., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness. Publication Status: Online-Only, [RefSeq, PubMed]; Novel variants in TBC1D24 associated with epilepsy and deafness: Report of two cases., [RefSeq, PubMed]; TBC1D24 emerges as an important contributor to progressive postlingual dominant hearing loss. Publication Status: Online-Only, [RefSeq, PubMed]; TBC1D24-related familial infantile multifocal myoclonus: Description of a new Chinese pedigree with a 20 year follow up., [RefSeq, PubMed]; This gene encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins which interact with GTPases. TBC domain proteins may serve as GTPase-activating proteins for a particular group of GTPases, the Rab (Ras-related proteins in brain) small GTPases which are involved in the regulation of membrane trafficking. Mutations in this gene are associated with familial infantile myoclonic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 25, "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": "A0JNW3;B9A6M6;Q2KJ08", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0030054 cell junction;GO:0031594 neuromuscular junction;GO:0043195 terminal bouton", "go_biological_process": "GO:0031175 neuron projection development;GO:2000463 positive regulation of excitatory postsynaptic potential;GO:0034599 cellular response to oxidative stress;GO:0050775 positive regulation of dendrite morphogenesis;GO:2001224 positive regulation of neuron migration", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "Q9ULP9-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15833-1", "uniprot_id": [ { "id": "STXB2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15833", "type": "external" } ], "mass": 66453.0, "length": 593, "protein_name": "Syntaxin-binding protein 2", "gene_name": "STXBP2", "organism": "Human", "refseq_name": "syntaxin-binding protein 2 isoform b", "refseq_ac": [ { "id": "NP_001120868", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120868", "type": "external" } ], "gene_names_uniprotkb": "STXBP2; UNC18B", "gene_names_refseq": "Hunc18b; MUNC18-2; STXBP2; UNC18-2; UNC18B; pp10122; unc-18B", "protein_names_uniprotkb": "Syntaxin-binding protein 2; Munc18-2; Protein unc-18 homolog 2; Protein unc-18 homolog B; Unc-18B; Unc18-2", "protein_names_refseq": "protein unc-18 homolog B; syntaxin-binding protein 2 isoform b", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 4 (Disease Ontology:DOID:0080436); familial hemophagocytic lymphohistiocytosis 5 (Disease Ontology:DOID:0110925); developmental and epileptic encephalopathy (Disease Ontology:DOID:0112202); alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:6813); (R-HSA-114608); (R-HSA-449836)", "pathway_count": 3, "publication_count": 117, "publication_id_list": "10395686;10438516;11237011;12469119;12558796;1435334;14630798;15297306;16488976;16492764;17697703;17716669;18452278;18467591;19804848;19884660;2147944;21716315;22424782;22544926;23291588;23481700;23640497;23744080;24714562;24715725;24910990;25576301;25645385;25662098;25880248;26095744;26154972;26375851;26771955;26992070;27452731;27600516;27862975;28228285;28265073;28467828;28649982;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29632711;29786170;29789417;30315122;30379171;30429286;30524438;30779550;30833945;31154438;31217245;31530632;31651726;31844290;31848261;31937595;31998317;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33091337;33123756;33141586;33162974;33298915;33392160;33537174;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34339548;34357683;34433824;34509645;34561969;34932366;35051231;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37938771;40914422;6457647;7615501;7805849;8467233;8921365;9422780", "class_list": "", "function": "Different Clinical Presentation of 3 Children With Familial Hemophagocytic Lymphohistiocytosis With 2 Novel Mutations., [RefSeq, PubMed]; Functions in intracellular vesicle trafficking through interaction with SNAREs (soluble N-ethylmaleimide-sensitive factor-attachment protein receptors) which are essential proteins for membrane fusion. By promoting the assembly of functional STX11/SNAP23/VAMP8 SNARE complexes at the plasma membrane, regulates cytotoxic granule exocytosis in natural killer (NK) cells., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; STXBP2-R190C Variant in a Patient With Neonatal Hemophagocytic Lymphohistiocytosis (HLH) and G6PD Deficiency Reveals a Critical Role of STXBP2 Domain 2 on Granule Exocytosis. Publication Status: Online-Only, [RefSeq, PubMed]; Spectrum mutations of PRF1, UNC13D, STX11, and STXBP2 genes in Vietnamese patients with hemophagocytic lymphohistiocytosis., [RefSeq, PubMed]; This gene encodes a member of the STXBP/unc-18/SEC1 family. The encoded protein is involved in intracellular trafficking, control of SNARE (soluble NSF attachment protein receptor) complex assembly, and the release of cytotoxic granules by natural killer cells. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2013]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 20, "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": "B4E175;E7EQD5;Q9BU65", "ec_number_list": [], "go_molecular_function": "GO:0030348 syntaxin-3 binding;GO:0017075 syntaxin-1 binding;GO:0019905 syntaxin binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0030141 secretory granule;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0043312 neutrophil degranulation;GO:0043304 regulation of mast cell degranulation;GO:0001909 leukocyte mediated cytotoxicity;GO:0099525 presynaptic dense core vesicle exocytosis", "synthesized_glycan_count": 0, "hit_score": 12.0, "record_id": "Q15833-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0W7-1", "uniprot_id": [ { "id": "THAP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0W7", "type": "external" } ], "mass": 26260.0, "length": 228, "protein_name": "THAP domain-containing protein 2", "gene_name": "THAP2", "organism": "Human", "refseq_name": "THAP domain-containing protein 2", "refseq_ac": [ { "id": "NP_113623", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_113623", "type": "external" } ], "gene_names_uniprotkb": "THAP2", "gene_names_refseq": "THAP2", "protein_names_uniprotkb": "THAP domain-containing protein 2", "protein_names_refseq": "THAP domain containing, apoptosis associated protein 2; THAP domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:83591)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11230166;11237011;18452278;26992070;31844290;32157095;32357974;33537174;33592498;33912179;34185709;35580925;36010968;37938771", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "B2R8P3", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q9H0W7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UI15-1", "uniprot_id": [ { "id": "TAGL3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UI15", "type": "external" } ], "mass": 22473.0, "length": 199, "protein_name": "Transgelin-3", "gene_name": "TAGLN3", "organism": "Human", "refseq_name": "transgelin-3", "refseq_ac": [ { "id": "NP_001008273", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008273", "type": "external" } ], "gene_names_uniprotkb": "TAGLN3; NP25", "gene_names_refseq": "NP22; NP24; NP25; TAGLN3", "protein_names_uniprotkb": "Transgelin-3; NP22; Neuronal protein 22; Neuronal protein NP25", "protein_names_refseq": "neuronal protein 22; neuronal protein NP25; transgelin-3", "tax_id": 9606, "disease": "", "pathway": " (hsa:29114)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "10931946;11237011;11238712;14506410;15781144;17123483;23783831;27600516;28228285;28514659;28832583;28834231;28855257;29242379;29331515;29393594;29557506;29786170;29789417;31154438;32157095;32897882;32938616;32983136;33691108;33968037;34509645;35051231;35318648;35494241;35561310;35580925;36010968", "class_list": "", "function": "Altered expression of hNP22 may be associated with modifications in neuronal cytoarchitecture leading to dysregulation of neural signal transduction in the anterior cingulate cortex of the schizophrenia brain., [RefSeq, PubMed]; Western blots revealed a significant increase in hNP22 protein levels in the frontal cortex but not the motor cortex of alcoholic cases. Erratum:[Alcohol Clin Exp Res. 2004 Sep;28(9):1431], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "D3DN64;Q96A74", "ec_number_list": [], "go_molecular_function": "GO:0051015 actin filament binding", "go_cellular_component": "GO:0005634 nucleus;GO:0015629 actin cytoskeleton;GO:0045202 synapse", "go_biological_process": "GO:0007015 actin filament organization;GO:0007417 central nervous system development", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q9UI15-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P21675-2", "uniprot_id": [ { "id": "TAF1_HUMAN", "url": "https://www.uniprot.org/uniprot/P21675", "type": "external" } ], "mass": 214714.0, "length": 1893, "protein_name": "Transcription initiation factor TFIID subunit 1", "gene_name": "TAF1", "organism": "Human", "refseq_name": "transcription initiation factor TFIID subunit 1 isoform 2", "refseq_ac": [ { "id": "NP_620278", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_620278", "type": "external" } ], "gene_names_uniprotkb": "TAF1; BA2R; CCG1; CCGS; TAF2A", "gene_names_refseq": "BA2R; CCG1; CCGS; DYT3/TAF1; DYT3; KAT4; MRXS33; N-TAF1; NSCL2; OF; P250; TAF(II)250; TAF1; TAF2A; TAFII-250; TAFII250; XDP", "protein_names_uniprotkb": "Transcription initiation factor TFIID subunit 1; 2.3.1.48; 2.7.11.1; Cell cycle gene 1 protein; TAF(II)250; TAFII-250; TAFII250; TBP-associated factor 250 kDa; Transcription initiation factor TFIID 250 kDa subunit; p250", "protein_names_refseq": "TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa; TBP-associated factor 250 kDa; cell cycle gene 1 protein; cell cycle, G1 phase defect; complementation of cell cycle block, G1-to-S; transcription factor TFIID p250 polypeptide; transcription initiation factor TFIID subunit 1 isoform 2; transcription initiation factor TFIID subunit 1", "tax_id": 9606, "disease": "syndromic X-linked intellectual disability (Disease Ontology:DOID:0060309); X-linked dystonia-parkinsonism (Disease Ontology:DOID:0090057); intellectual disability, X-linked, syndromic 33 (MONDO:MONDO:0010500)", "pathway": " (hsa:6872); (R-HSA-167161); (R-HSA-167162); (R-HSA-167172); (R-HSA-674695); (R-HSA-6804756); (R-HSA-73776); (R-HSA-73779); (R-HSA-75953); (R-HSA-76042)", "pathway_count": 10, "publication_count": 119, "publication_id_list": "10.1101/2023.09.13.557529;10024882;10199401;10435622;10500146;10570149;10604467;10673500;10673501;10710310;10723029;10759893;10827952;10884347;11239457;11278496;11433015;11447225;11486021;11511362;11546806;11551930;11592977;11739720;11740489;11780126;11784853;11859374;11884399;12064478;12093919;12393879;12676794;12702766;12842904;12851404;12914926;12928496;1310361;14702041;15053879;15489290;15866171;15870300;15960975;16322561;17108107;17273961;17344846;17349958;17591690;17952504;18490454;19121998;1939271;19690332;19965871;2038334;20959462;21317932;22464331;22711989;23000554;23184149;23481700;23485397;23676219;24145406;24275569;2449431;24874608;25412659;25593309;25644381;25645385;26365797;26375851;26637982;26728094;27007846;27920218;28218747;28832583;28834231;29242379;29393594;29508533;29786170;30315122;30524438;31092671;3169001;33795473;34019948;37938771;7151173;7601352;7660122;7660129;7660130;7680771;8156590;8330735;8370526;8450888;8465201;8490964;8625415;8647434;8649420;8946909;9256425;9353262;9405375;9450929;9489704;9660973;9858607;9925639", "class_list": "", "function": "Although d3-d4 also affect genes potentially related to neurodegenerative processes, their physiologic role as splice variants of TAF1 awaits further exploration, [RefSeq, PubMed]; Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is the basal transcription factor TFIID, which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes the largest subunit of TFIID. This subunit binds to core promoter sequences encompassing the transcription start site. It also binds to activators and other transcriptional regulators, and these interactions affect the rate of transcription initiation. This subunit contains two independent protein kinase domains at the N- and C-terminals, but also possesses acetyltransferase activity and can act as a ubiquitin-activating/conjugating enzyme. Mutations in this gene result in Dystonia 3, torsion, X-linked, a dystonia-parkinsonism disorder. Alternative splicing of this gene results in multiple transcript variants. This gene is part of a complex transcription unit (TAF1/DYT3), wherein some transcript variants share exons with TAF1 as well as additional downstream DYT3 exons. [provided by RefSeq, Oct 2013]., [RefSeq]; Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism, [RefSeq, PubMed]; The TFIID basal transcription factor complex plays a major role in the initiation of RNA polymerase II (Pol II)-dependent transcription (PubMed:33795473). TFIID recognizes and binds promoters with or without a TATA box via its subunit TBP, a TATA-box-binding protein, and promotes assembly of the pre-initiation complex (PIC) (PubMed:33795473). The TFIID complex consists of TBP and TBP-associated factors (TAFs), including TAF1, TAF2, TAF3, TAF4, TAF5, TAF6, TAF7, TAF8, TAF9, TAF10, TAF11, TAF12 and TAF13 (PubMed:33795473). TAF1 is the largest component and core scaffold of the TFIID complex, involved in nucleating complex assembly (PubMed:25412659, PubMed:27007846, PubMed:33795473). TAF1 forms a promoter DNA binding subcomplex of TFIID, together with TAF7 and TAF2 (PubMed:33795473). Contains novel N- and C-terminal Ser/Thr kinase domains which can autophosphorylate or transphosphorylate other transcription factors (PubMed:25412659, PubMed:8625415). Phosphorylates TP53 on 'Thr-55' which leads to MDM2-mediated degradation of TP53 (PubMed:25412659). Phosphorylates GTF2A1 and GTF2F1 on Ser residues (PubMed:25412659). Possesses DNA-binding activity (PubMed:25412659). Essential for progression of the G1 phase of the cell cycle (PubMed:11278496, PubMed:15053879, PubMed:2038334, PubMed:8450888, PubMed:8625415, PubMed:9660973, PubMed:9858607). Exhibits histone acetyltransferase activity towards histones H3 and H4 (PubMed:15870300)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Thirty-eight exons code for TAF1. Five downstream exons of yet unknown function can either form transcripts with TAF1 exons or be transcribed independently. Splice variants can include d plus at least 12 TAF1 exons., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 10, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 21, "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": "A5CVC8;A5CVC9;A5CVD0;A5CVD1;B1Q2X3;Q59FZ3;Q6IUZ1;Q70Q86;Q70Q87;Q70T00;Q70T01;Q70T02;Q70T03", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.7.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.48", "type": "external" }, { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "2.3.1.57", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.57", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.3.1.259", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.259", "type": "external" }, { "id": "2.3.1.80", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.80", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0046982 protein heterodimerization activity;GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005667 transcription regulator complex;GO:0000785 chromatin;GO:0071339 MLL1 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:0010629 negative regulation of gene expression;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:1901796 regulation of signal transduction by p53 class mediator", "synthesized_glycan_count": 0, "hit_score": 12.6, "record_id": "P21675-2", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NFX7-1", "uniprot_id": [ { "id": "STXB6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NFX7", "type": "external" } ], "mass": 23554.0, "length": 210, "protein_name": "Syntaxin-binding protein 6", "gene_name": "STXBP6", "organism": "Human", "refseq_name": "syntaxin-binding protein 6 isoform 1", "refseq_ac": [ { "id": "NP_001291405", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291405", "type": "external" } ], "gene_names_uniprotkb": "STXBP6; HSPC156", "gene_names_refseq": "HSPC156; STXBP6; amisyn", "protein_names_uniprotkb": "Syntaxin-binding protein 6; Amisyn", "protein_names_refseq": "syntaxin-binding protein 6 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:29091)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "11237011;12145319;23481700;25576301;25645385;26154972;26992070;27600516;28198450;28228285;29393594;29557506;29786170;30059200;30429286;30484775;31154438;31217245;31844290;31848261;31998317;32157095;32265295;32357974;32387766;32700091;32938616;33141586;33592498;34019948;34509645;35051231;35318648;35561310;36010968;37541260;39227839", "class_list": "", "function": "A functional variant rs912304 for late-onset T1D risk contributes to islet dysfunction by regulating proinflammatory cytokine-responsive gene STXBP6 expression. Publication Status: Online-Only, [RefSeq, PubMed]; Forms non-fusogenic complexes with SNAP25 and STX1A and may thereby modulate the formation of functional SNARE complexes and exocytosis., [UniProtKB]; Identification of STXBP6-IRF1 positive feedback loop in regulation of PD-L1 in cancer., [RefSeq, PubMed]; Our results provide a basis for the genetic etiology of lung adenocarcinoma by demonstrating the possible role of hypermethylation of STXBP6 in poor clinical outcomes in lung cancer patients. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DS78;Q8N3H1;Q8N8D5;Q96GF3;Q9P008", "ec_number_list": [], "go_molecular_function": "GO:0098641 cadherin binding involved in cell-cell adhesion", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005912 adherens junction;GO:0016020 membrane", "go_biological_process": "GO:0035542 regulation of SNARE complex assembly;GO:0045920 negative regulation of exocytosis;GO:0035493 SNARE complex assembly", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q8NFX7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NVR7-1", "uniprot_id": [ { "id": "TBCC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NVR7", "type": "external" } ], "mass": 63530.0, "length": 557, "protein_name": "TBCC domain-containing protein 1", "gene_name": "TBCCD1", "organism": "Human", "refseq_name": "TBCC domain-containing protein 1 isoform a", "refseq_ac": [ { "id": "NP_001127887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127887", "type": "external" } ], "gene_names_uniprotkb": "TBCCD1", "gene_names_refseq": "TBCCD1", "protein_names_uniprotkb": "TBCC domain-containing protein 1", "protein_names_refseq": "TBCC domain-containing protein 1 isoform a; TBCC domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:55171)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "11237011;19913121;20168327;20628086;22544926;23481700;25645385;25880248;26375851;28218747;28228285;28649982;28832583;29242379;29437277;29557506;30379171;30524438;31217245;31844290;31937595;32161166;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33592498;33912179;33968037;34405274;34509645;35051231;35154160;35561310", "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]; Plays a role in the regulation of centrosome and Golgi apparatus positioning, with consequences on cell shape and cell migration., [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": 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": "B3KW69;D3DNU6;G5E9J4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0031616 spindle pole centrosome", "go_biological_process": "GO:0051684 maintenance of Golgi location;GO:0030334 regulation of cell migration;GO:0008360 regulation of cell shape;GO:0051661 maintenance of centrosome location", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q9NVR7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P24557-1", "uniprot_id": [ { "id": "THAS_HUMAN", "url": "https://www.uniprot.org/uniprot/P24557", "type": "external" } ], "mass": 60518.0, "length": 533, "protein_name": "Thromboxane-A synthase", "gene_name": "TBXAS1", "organism": "Human", "refseq_name": "thromboxane-A synthase isoform 4", "refseq_ac": [ { "id": "NP_001159726", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159726", "type": "external" } ], "gene_names_uniprotkb": "TBXAS1; CYP5A1; CYP5; TXAS", "gene_names_refseq": "BDPLT14; CYP5A1; CYP5; GHOSAL; TBXAS1; THAS; TS; TXAS; TXS", "protein_names_uniprotkb": "Thromboxane-A synthase; 4.2.1.152; 5.3.99.5; Cytochrome P450 5A1; Hydroperoxy icosatetraenoate dehydratase; TXA synthase; TXS", "protein_names_refseq": "TXA synthase; cytochrome P450 5A1; cytochrome P450, family 5, subfamily A, polypeptide 1; hydroperoxy icosatetraenoate dehydratase; platelet, cytochrome P450, subfamily V; thromboxane A synthase 1 (platelet); thromboxane-A synthase isoform 4", "tax_id": 9606, "disease": "thrombosis (Disease Ontology:DOID:0060903); alcohol-associated liver disease (Disease Ontology:DOID:0070658); acute necrotizing pancreatitis (Disease Ontology:DOID:0080998); Ghosal hematodiaphyseal syndrome (Disease Ontology:DOID:0112251); hypertension (Disease Ontology:DOID:10763); membranous glomerulonephritis (Disease Ontology:DOID:10976); hydronephrosis (Disease Ontology:DOID:11111); arteriosclerosis (Disease Ontology:DOID:2349); glomerulonephritis (Disease Ontology:DOID:2921); brain infarction (Disease Ontology:DOID:3454); cerebral infarction (Disease Ontology:DOID:3526); pulmonary embolism (Disease Ontology:DOID:9477)", "pathway": " (hsa:6916); (R-HSA-211979); (R-HSA-2162123); (R-HSA-5579032)", "pathway_count": 4, "publication_count": 92, "publication_id_list": "10377455;10391209;10391210;10405341;10622721;10791960;10922363;10966456;11097184;11237011;11297515;11465543;11672424;12432933;12627223;12721789;12835322;1380156;14979715;15047184;15115769;16436457;16475787;16828555;16959974;1714723;1730669;17449869;17459323;17641676;18006499;18264100;18493841;18682561;19000823;20036328;2043115;20667974;20950588;21467029;2195994;22735388;23481700;24009185;24715725;25548167;26154972;27846572;27920218;28832583;29242379;29485866;29557506;29786170;29789417;30524438;31154438;31848261;32387766;32502341;32897882;32983136;33936100;33968037;34171305;34185709;34509645;35051231;35580925;38320993;3862115;3954355;4514999;4521806;4776443;5284360;6101498;7005231;7552725;7925341;7947975;8175750;8315383;8366093;8436233;8901870;9139685;9219313;9539102;9626023;9799565;9873013", "class_list": "", "function": "Catalyzes the conversion of prostaglandin H2 (PGH2) to thromboxane A2 (TXA2), a potent inducer of blood vessel constriction and platelet aggregation (PubMed:11097184, PubMed:11297515, PubMed:22735388, PubMed:24009185, PubMed:8436233, PubMed:9873013). Also cleaves PGH2 to 12-hydroxy-heptadecatrienoicacid (12-HHT) and malondialdehyde, which is known to act as a mediator of DNA damage. 12-HHT and malondialdehyde are formed stoichiometrically in the same amounts as TXA2 (PubMed:11297515, PubMed:22735388, PubMed:9873013). Additionally, displays dehydratase activity, toward (15S)-hydroperoxy-(5Z,8Z,11Z,13E)-eicosatetraenoate (15(S)-HPETE) producing 15-KETE and 15-HETE (PubMed:17459323)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Genome-wide association study implicates the role of TBXAS1 in the pathogenesis of depressive symptoms among the Korean population. Publication Status: Online-Only, [RefSeq, PubMed]; Structure and function of the gene and protein - review Review article, [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. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of prostglandin H2 to thromboxane A2, a potent vasoconstrictor and inducer of platelet aggregation. The enzyme plays a role in several pathophysiological processes including hemostasis, cardiovascular disease, and stroke. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 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": 12, "reported_glycation": 0, "reported_snv": 5, "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": "B4DJG6;E7EMU9;E7EP08;E7ESB5;O14987;Q16843;Q16844;Q8IUN1;Q96CN2;Q9GZW4;Q9HD77;Q9HD78;Q9HD79;Q9HD80;Q9HD81;Q9HD82;Q9HD83;Q9HD84", "ec_number_list": [ { "id": "1.14.14.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.1", "type": "external" }, { "id": "4.2.1.152", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.152", "type": "external" }, { "id": "5.3.99.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.5", "type": "external" }, { "id": "1.14.99.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.99.1", "type": "external" }, { "id": "5.3.99.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.4", "type": "external" }, { "id": "1.14.14.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.-", "type": "external" }, { "id": "5.4.4.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.4.7", "type": "external" }, { "id": "5.3.99.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.3", "type": "external" } ], "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:0004796 thromboxane-A synthase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006690 icosanoid metabolic process;GO:0030644 intracellular chloride ion homeostasis;GO:0045471 response to ethanol;GO:0045907 positive regulation of vasoconstriction;GO:0070542 response to fatty acid", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "P24557-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UHE8-1", "uniprot_id": [ { "id": "STEA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UHE8", "type": "external" } ], "mass": 39851.0, "length": 339, "protein_name": "STEAP1 protein", "gene_name": "STEAP1", "organism": "Human", "refseq_name": "STEAP1 protein", "refseq_ac": [ { "id": "NP_036581", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036581", "type": "external" } ], "gene_names_uniprotkb": "STEAP1; PRSS24; STEAP", "gene_names_refseq": "PRSS24; STEAP1; STEAP", "protein_names_uniprotkb": "STEAP1 protein; Six-transmembrane epithelial antigen of prostate 1", "protein_names_refseq": "STEAP1 metalloreductase; STEAP1 protein; metalloreductase STEAP1; six transmembrane epithelial antigen of the prostate 1; six-transmembrane epithelial antigen of prostate 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:26872)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "10588738;11237011;15958640;16024648;16609065;16622681;17545632;18077418;18578522;18793824;25418920;27471654;28228285;28514659;29317506;29437277;29557506;29900060;30315122;30410026;31844290;32357974;32409586;32610710;32938616;33298915;33968037;34357683;35051231;35313641;35874702;36660947;37209327;37315586;37586765;38062846", "class_list": "", "function": "Does not function as a metalloreductase due to the absence of binding sites for the electron-donating substrate NADPH. Promotes Fe(3+) reduction when fused to the NADPH-binding domain of STEAP4., [UniProtKB, PubMed]; Inhibition of STEAP1 ameliorates inflammation and ferroptosis of acute lung injury caused by sepsis in LPS-induced human pulmonary microvascular endothelial cells., [RefSeq, PubMed]; Peptide STEAP-292.2L (MLAVFLPIV) may have potential as an antitumor peptide vaccine., [RefSeq, PubMed]; Proteomic analysis of STEAP1 knockdown in human LNCaP prostate cancer cells., [RefSeq, PubMed]; STEAP mRNA is used here as a marker to evaluate biological samples from individuals suspected of having cancers, and may provide prognostic information useful in defining appropriate therapeutic options., [RefSeq, PubMed]; STEAP1 regulation and its influence modulating the response of LNCaP prostate cancer cells to bicalutamide, enzalutamide and apalutamide., [RefSeq, PubMed]; Six Transmembrane Epithelial Antigen 1 as a Prognostic Biomarker in Carcinomas: A Meta-Analysis., [RefSeq, PubMed]; The Prognostic Value and Immunological Role of STEAP1 in Pan-Cancer: A Result of Data-Based Analysis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is predominantly expressed in prostate tissue, and is found to be upregulated in multiple cancer cell lines. The gene product is predicted to be a six-transmembrane protein, and was shown to be a cell surface antigen significantly expressed at cell-cell junctions. [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": 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": "A4D1E0;O95034", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0020037 heme binding", "go_cellular_component": "GO:0005768 endosome;GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0016020 membrane;GO:0010008 endosome membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q9UHE8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UGT4-1", "uniprot_id": [ { "id": "SUSD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UGT4", "type": "external" } ], "mass": 90208.0, "length": 822, "protein_name": "Sushi domain-containing protein 2", "gene_name": "SUSD2", "organism": "Human", "refseq_name": "sushi domain-containing protein 2 precursor", "refseq_ac": [ { "id": "NP_062547", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_062547", "type": "external" } ], "gene_names_uniprotkb": "SUSD2", "gene_names_refseq": "BK65A6.2; SUSD2; W5C5", "protein_names_uniprotkb": "Sushi domain-containing protein 2", "protein_names_refseq": "Sushi domain (SCR repeat) containing; sushi domain-containing protein 2 precursor; sushi domain-containing protein 2; testicular tissue protein Li 190", "tax_id": 9606, "disease": "", "pathway": " (hsa:56241)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;16335952;19159218;20112406;23090970;23131994;23584533;24190977;24715725;25351403;29393594;29557506;29741879;30459171;31154438;32157095;33836533;35051231;35259051;35580925;35894945;37074911;38897441", "class_list": "", "function": "Authors found significantly fewer CD4 tumor infiltrating lymphocytes in breast tumors expressing Susd2., [RefSeq, PubMed]; CBX8 Together with SET Facilitates Ovarian Carcinoma Growth and Metastasis by Suppressing the Transcription of SUSD2., [RefSeq, PubMed]; LncRNA small nucleolar RNA host gene 16 (SNHG16) silencing protects lipopolysaccharide (LPS)-induced cell injury in human lung fibroblasts WI-38 through acting as miR-141-3p sponge., [RefSeq, PubMed]; May be a cytokine receptor for GPR15LG. May be a tumor suppressor; together with GPR15LG has a growth inhibitory effect on colon cancer cells which includes G1 cell cycle arrest (PubMed:25351403). May play a role in breast tumorigenesis (PubMed:23131994)., [UniProtKB, PubMed, PubMed]; MiR-141-3p promotes retinoblastoma progression via inhibiting sushi domain-containing protein 2., [RefSeq, PubMed]; The dual role of SUSD2 in cancer development. Review article, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 44, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 64, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q9H5Y6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0051782 negative regulation of cell division;GO:1902807 negative regulation of cell cycle G1/S phase transition", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "Q9UGT4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UH36-1", "uniprot_id": [ { "id": "SRR1L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UH36", "type": "external" } ], "mass": 38573.0, "length": 339, "protein_name": "SRR1-like protein", "gene_name": "SRRD", "organism": "Human", "refseq_name": "SRR1-like protein", "refseq_ac": [ { "id": "NP_001013716", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013716", "type": "external" } ], "gene_names_uniprotkb": "SRRD; SRR1L", "gene_names_refseq": "HC/HCC; SRR1L; SRRD", "protein_names_uniprotkb": "SRR1-like protein; SRR1 domain-containing protein", "protein_names_refseq": "SRR1 domain-containing protein; SRR1-like protein; hepatocellular carcinoma complicating hemochromatosis", "tax_id": 9606, "disease": "", "pathway": " (hsa:402055)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "23481700;24714562;24715725;25576301;25645385;26154972;26728094;26811146;26992070;27600516;27846572;28228285;28802827;28834231;28904123;29242379;29393594;29493099;29557506;29632046;30315122;30429286;30524438;30779550;31154438;31844290;31848261;32157095;32161166;32265295;32357974;32488085;32897882;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33981976;34185709;35051231;35580925;36010968;36241641;37938771;38315730", "class_list": "", "function": "CRISPR screen for protein inclusion formation uncovers a role for SRRD in the regulation of intermediate filament dynamics and aggresome assembly. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in the regulation of heme biosynthesis and in the regulation of the expression of core clock genes., [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": "Q6NXP8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0042752 regulation of circadian rhythm;GO:0048511 rhythmic process;GO:0006783 heme biosynthetic process;GO:0070453 regulation of heme biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q9UH36-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NJR5-1", "uniprot_id": [ { "id": "SPDL3_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NJR5", "type": "external" } ], "mass": 34699.0, "length": 290, "protein_name": "Putative speedy protein-like protein 3", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative speedy protein-like protein 3", "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:0019901 protein kinase binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A6NJR5-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51571-1", "uniprot_id": [ { "id": "SSRD_HUMAN", "url": "https://www.uniprot.org/uniprot/P51571", "type": "external" } ], "mass": 18999.0, "length": 173, "protein_name": "Translocon-associated protein subunit delta", "gene_name": "SSR4", "organism": "Human", "refseq_name": "translocon-associated protein subunit delta isoform 1 precursor", "refseq_ac": [ { "id": "NP_001191455", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191455", "type": "external" } ], "gene_names_uniprotkb": "SSR4; TRAPD", "gene_names_refseq": "CDG1Y; SSR4; TRAPD", "protein_names_uniprotkb": "Translocon-associated protein subunit delta; SSR-delta; Signal sequence receptor subunit delta; TRAP-delta", "protein_names_refseq": "SSR-delta; TRAP-delta; signal sequence receptor, delta; translocon-associated protein subunit delta isoform 1 precursor; translocon-associated protein subunit delta", "tax_id": 9606, "disease": "congenital disorder of glycosylation Iy (Disease Ontology:DOID:0080574)", "pathway": " (hsa:6748); (R-HSA-1799339)", "pathway_count": 2, "publication_count": 106, "publication_id_list": "11237011;11964406;12853463;15057039;16469117;18166647;18455985;20112406;20444697;20598277;22869377;23481700;24218363;24366607;24397554;24715725;25418920;25469497;25576301;25645385;25802875;26154972;26264460;26375851;26811146;26929215;26992070;27397612;27452731;27600516;27846572;27920218;28063628;28218747;28228285;28446606;28510447;28514659;28649982;28832583;28834231;28860189;28904123;29242379;29317506;29331515;29371260;29393594;29437277;29493099;29508533;29557506;29632046;29786170;29789417;30315122;30429286;30484775;30524438;30779550;31092671;31844290;32157095;32265295;32357974;32387766;32488085;32897882;32938616;32983136;33123756;33141586;33214551;33298915;33300232;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;34019948;34087483;34171305;34185709;34509645;34932366;35051231;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36697828;37217939;37938771;38665916;7492314;9286695;9631292", "class_list": "", "function": "Expanding the phenotype of X-linked SSR4-CDG: Connective tissue implications., [RefSeq, PubMed]; Results of this study implicate TRAPD as a candidate gene with potential functions that might be associated with ultraviolet-induced melanomagenesis and metastasis, [RefSeq, PubMed]; TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins., [UniProtKB, UniProtKB, UniProtKB]; This gene encodes the delta subunit of the translocon-associated protein complex which is involved in translocating proteins across the endoplasmic reticulum membrane. The encoded protein is located in the Xq28 region and is arranged in a compact head-to-head manner with the isocitrate dehydrogenase 3 (NAD+) gamma gene and both genes are driven by a CpG-embedded bidirectional promoter. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2011]., [RefSeq]; We now report eight affected males with either de novo (4) or inherited (4) loss of function mutations in SSR4., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A8K378;Q53XY1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0070062 extracellular exosome;GO:0005789 endoplasmic reticulum membrane;GO:0012505 endomembrane system;GO:0005784 Sec61 translocon complex", "go_biological_process": "GO:0031204 post-translational protein targeting to membrane, translocation", "synthesized_glycan_count": 0, "hit_score": 10.9, "record_id": "P51571-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQZ5-1", "uniprot_id": [ { "id": "STAR7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQZ5", "type": "external" } ], "mass": 43113.0, "length": 370, "protein_name": "StAR-related lipid transfer protein 7, mitochondrial", "gene_name": "STARD7", "organism": "Human", "refseq_name": "stAR-related lipid transfer protein 7, mitochondrial isoform 1 precursor", "refseq_ac": [ { "id": "NP_064536", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064536", "type": "external" } ], "gene_names_uniprotkb": "STARD7; GTT1", "gene_names_refseq": "ADCME; BAFME2; FAME2; FAME; FCMTE2; GTT1; STARD7", "protein_names_uniprotkb": "StAR-related lipid transfer protein 7, mitochondrial; Gestational trophoblastic tumor protein 1; STARD7, mitochodrial; START domain-containing protein 7; StARD7; StarD7-II; StarD7-I", "protein_names_refseq": "START domain containing 7; START domain-containing protein 7; StAR-related lipid transfer (START) domain containing 7; benign adult familial myoclonic epilepsy 2; cortical myoclonus and epilepsy, autosomal dominant; familial adult myoclonic epilepsy 2; familial cortical myoclonic tremor with epilepsy 2; gestational trophoblastic tumor protein 1; stAR-related lipid transfer protein 7, mitochondrial isoform 1 precursor; stAR-related lipid transfer protein 7, mitochondrial", "tax_id": 9606, "disease": "familial adult myoclonic epilepsy 2 (Disease Ontology:DOID:0111692)", "pathway": " (hsa:56910); (R-HSA-1483191); (R-HSA-2142789); (R-HSA-9837999)", "pathway_count": 4, "publication_count": 177, "publication_id_list": "10100195;10191259;10501970;10677542;10777520;10893425;11068039;11237011;11420179;11698453;11923310;12055623;12198491;12216837;12221122;12721307;14623864;14973250;15013637;15153069;15175005;15522782;15715662;15870080;15911624;16115876;16262699;16624818;17007874;17101804;17158099;17297443;17374725;17561512;17579211;17672918;17916383;18694939;19679347;19841671;19915674;20042613;20338778;21540551;21872626;21926997;21944752;22262461;22710082;22898188;23201127;23328280;23354120;23481700;23901139;23931759;24270420;24315374;24366607;24520911;24714562;24732803;24828044;25152161;25339443;25418920;25576301;25645385;25802875;25880248;25980009;26005868;26048993;26154972;26375851;26504172;26923599;26929215;26945070;26992070;27155576;27496948;27499296;27600516;27642048;27846572;27920218;28063628;28218747;28228285;28288130;28377575;28396416;28401922;28446606;28514659;28649982;28821867;28832583;28834231;28904123;29242379;29301859;29371260;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29932645;30120231;30315122;30410026;30429286;30524438;3057511;30779550;30833945;31154438;31327635;31530632;31664034;31695197;31844290;31848261;31998317;32071354;32157095;32161166;32357974;32387766;32488085;32502341;32707086;32897882;32938616;32983136;33257573;33298915;33392160;33537174;33592498;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34357683;34416390;34471290;34561969;34704252;34932366;34943861;35051231;35318648;35580925;35870450;36010968;36215666;36241641;36284347;36306796;36629048;36658222;37938771;38425362;7623837;8621692;9083049;9593753", "class_list": "", "function": "Beta-catenin and TCF4 activate the human StarD7 gene interacting with its promoter region through Wnt/beta-catenin signalling., [RefSeq, PubMed]; Familial Adult Myoclonic Epilepsy type 2 is caused by an expansion of an ATTTC pentamer within the first intron of STARD7. GeneRIF: An ATTTC expansion in the first intron of STARD7 segregated with Familial Adult Myoclonic Epilepsy (FAME2, OMIM: 607876)in 158 typically affected individuals. Expression of STARD7 mRNA and protein abundance was not altered in fibroblast cell lines derived from individuals with FAME2 ATTTC repeat expansions. Publication Status: Online-Only, [RefSeq, PubMed]; Mediates non-vesicular transfer of phosphatidylcholine to mitochondria, thereby maintaining mitochondrial membrane lipid composition, cristae organization, and respiratory function across diverse tissues., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Role of the lipid transport protein StarD7 in mitochondrial dynamics., [RefSeq, PubMed]; The apparent occurrence of an unusual TG 3' splice site in intron 1 is discussed, [RefSeq, PubMed]; The phosphatidylcholine transfer protein StarD7 is important for myogenic differentiation in mouse myoblast C2C12 cells and human primary skeletal myoblasts. Publication Status: Online-Only, [RefSeq, PubMed]; These results suggest that StarD7 facilitates the delivery of phosphatidylcholine to mitochondria in non-vesicular system., [RefSeq, PubMed]; Transfers phosphatidylcholine (PC) between the mitochondrial outer and inner membranes, contributing to mitochondrial lipid homeostasis. The mature cytosolic and intermembrane space forms of STARD7 mediate non-vesicular PC transport by transiently associating with mitochondrial membranes. Required for normal cristae architecture and optimal activity of the respiratory chain (PubMed:29301859). Mediates intracellular distribution of coenzyme Q (ubiquinone), the intermembrane space form supports mitochondrial coenzyme Q biosynthesis and the cytosolic form transfers coenzyme Q to extramitochondrial membranes, enhancing antioxidant protection and limiting ferroptosis sensitivity (PubMed:36658222)., [UniProtKB, PubMed, PubMed]; Transfers phosphatidylcholine (PC) from the endoplasmic reticulum to the mitochondrial outer membrane at ER-mitochondria contact sites, thereby maintaining mitochondrial PC content, respiratory complex stability and mitochondrial cristae morphology., [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": 14, "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": "D3DXG9;Q53T44;Q6GU43;Q969M6", "ec_number_list": [ { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" } ], "go_molecular_function": "GO:0008289 lipid binding;GO:0120013 lipid transfer activity;GO:0120019 phosphatidylcholine transfer activity;GO:0140104 molecular carrier activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005758 mitochondrial intermembrane space;GO:0005829 cytosol;GO:0005737 cytoplasm", "go_biological_process": "GO:0043457 regulation of cellular respiration;GO:0006656 phosphatidylcholine biosynthetic process;GO:0006744 ubiquinone biosynthetic process;GO:0007006 mitochondrial membrane organization;GO:0120010 intermembrane phospholipid transfer", "synthesized_glycan_count": 0, "hit_score": 17.8, "record_id": "Q9NQZ5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P59095-1", "uniprot_id": [ { "id": "STAR6_HUMAN", "url": "https://www.uniprot.org/uniprot/P59095", "type": "external" } ], "mass": 25022.0, "length": 220, "protein_name": "StAR-related lipid transfer protein 6", "gene_name": "STARD6", "organism": "Human", "refseq_name": "stAR-related lipid transfer protein 6 isoform 1", "refseq_ac": [ { "id": "NP_631910", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_631910", "type": "external" } ], "gene_names_uniprotkb": "STARD6", "gene_names_refseq": "STARD6", "protein_names_uniprotkb": "StAR-related lipid transfer protein 6; START domain-containing protein 6; StARD6", "protein_names_refseq": "START domain containing 6; START domain-containing protein 6; StAR-related lipid transfer (START) domain containing 6; stAR-related lipid transfer protein 6 isoform 1; stAR-related lipid transfer protein 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:147323); (R-HSA-196108)", "pathway_count": 2, "publication_count": 18, "publication_id_list": "11237011;12011452;18452278;24440759;25542846;25818881;27288785;27340016;2981667;3001071;3024157;31844290;37340703;38829257;8307574;8645003;9578606;9915832", "class_list": "", "function": "Cholesterol homeostasis is regulated, at least in part, by sterol regulatory element (SRE)-binding proteins (e.g., SREBP1; MIM 184756) and by liver X receptors (e.g., LXRA; MIM 602423). Upon sterol depletion, LXRs are inactive and SREBPs are cleaved, after which they bind promoter SREs and activate genes involved in cholesterol biosynthesis and uptake. Sterol transport is mediated by vesicles or by soluble protein carriers, such as steroidogenic acute regulatory protein (STAR; MIM 600617). STAR is homologous to a family of proteins containing a 200- to 210-amino acid STAR-related lipid transfer (START) domain, including STARD6 (Soccio et al., 2002 [PubMed 12011452]).[supplied by OMIM, Mar 2008]., [RefSeq]; Differential regulation of STARD1, STARD4 and STARD6 in the human ovary. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic association study results suggest that STARD6 is involved in the pathogenesis of Alzheimer's disease, [RefSeq, PubMed]; May be involved in the intracellular transport of sterols or other lipids. May bind cholesterol or other sterols (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; STARD6 binds specifically testosterone. Publication Status: Online-Only, [RefSeq, PubMed]; Studies show the 3 steroidogenic acute regulatory-related lipid transfer (START) domain proteins StarD4, StarD5 and StarD6 have a similar lipid binding pocket specific for sterols (cholesterol in particular), but differing regulation and localization. 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": 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": 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": "", "ec_number_list": [], "go_molecular_function": "GO:0008289 lipid binding", "go_cellular_component": "", "go_biological_process": "GO:0006869 lipid transport", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "P59095-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15020-1", "uniprot_id": [ { "id": "SPTN2_HUMAN", "url": "https://www.uniprot.org/uniprot/O15020", "type": "external" } ], "mass": 271325.0, "length": 2390, "protein_name": "Spectrin beta chain, non-erythrocytic 2", "gene_name": "SPTBN2", "organism": "Human", "refseq_name": "spectrin beta chain, non-erythrocytic 2 isoform 1", "refseq_ac": [ { "id": "NP_008877", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008877", "type": "external" } ], "gene_names_uniprotkb": "SPTBN2; KIAA0302; SCA5", "gene_names_refseq": "GTRAP41; SCA5; SCAR14; SPTBN2", "protein_names_uniprotkb": "Spectrin beta chain, non-erythrocytic 2; Beta-III spectrin; Spinocerebellar ataxia 5 protein", "protein_names_refseq": "beta-III spectrin; glutamate transporter EAAT4-associated protein 41; spectrin beta III sigma 2; spectrin beta chain, brain 2; spectrin beta chain, non-erythrocytic 2 isoform 1; spectrin beta chain, non-erythrocytic 2; spectrin, non-erythroid beta chain 2; spinocerebellar ataxia 5 protein", "tax_id": 9606, "disease": "spinocerebellar ataxia 5 (Disease Ontology:DOID:0050882); autosomal recessive spinocerebellar ataxia 14 (Disease Ontology:DOID:0080058)", "pathway": " (hsa:6712); (R-HSA-2132295); (R-HSA-375165); (R-HSA-445095); (R-HSA-5673001); (R-HSA-6807878)", "pathway_count": 6, "publication_count": 294, "publication_id_list": "10.1101/2023.09.13.557529;10036229;10052452;10064083;10072072;10318838;10445031;10480952;10508167;10540230;10559959;10593899;10631941;10631952;10639150;10679020;10748235;10761932;10809954;10869344;10903204;10921873;11027663;11035033;11090077;11136978;11172815;11222639;11237011;11285137;11306556;11313946;11461920;11529500;11546808;11684289;11689559;11702783;11703931;11726511;11748249;11790530;11813165;11853874;12032311;12047556;12070132;12078484;12094235;12121613;12198549;12388752;12634853;12700044;12742663;12748383;14506247;14654841;14707138;14731593;14742712;15037235;15356145;1545823;15546878;15616190;15632110;15728195;15749704;15813748;15878873;15911768;16030262;16181339;16242130;1631136;16429157;16597699;16618111;16627759;16633337;16684964;16723730;1680566;16824007;16904324;16912714;16926190;16940185;16959974;17081983;17142755;1716764;17223356;17253781;17274799;17283181;17360540;17429068;17451557;17760859;17927562;17956946;17998941;18046453;18086915;18182008;18283113;18292509;18452278;18524849;18669648;18691976;18775330;18809720;1898771;1898986;19015319;19109418;19164740;19279408;19296914;1956401;19564404;1957170;19631211;19758564;19920141;20068231;20357002;20427317;20478380;20637885;21102635;21116285;2121367;21219331;21372320;21406692;21441454;21689688;21779497;21779505;21844168;2190094;21993244;22013193;22094269;22304919;22569528;22589270;22645359;22750304;22914369;23103841;23186163;23236289;23303910;23443682;23481700;23575685;23838597;23839779;2391366;24119662;24275569;24806965;24897931;24937142;25219551;25418920;25436559;25492864;25576301;25645385;25781681;25892735;26085527;26992070;27397612;27846572;27920218;2809592;28778966;28834231;28904123;29371260;29393594;29508533;29557506;29632046;29632711;29769354;30315122;30379171;31135801;31154438;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;34019948;34087483;34171305;34185709;34211107;34932366;35051231;35318648;35580925;36010968;36241641;36284347;37626910;37938771;38241838;38279463;6148751;7481823;7592972;7650016;7667286;7691276;7809086;7935463;7972015;7997267;8001155;8046351;8052307;8128252;8132710;8134367;8145819;8148318;8221884;8253837;8313912;8394845;8397411;8415765;8493579;8505331;8620540;8636227;8642258;8665852;8687433;8710374;8849454;8909537;8939933;8939989;8947036;8991093;9075930;9114004;9150144;9177194;9202021;9244307;9288971;9311912;9312039;9323141;9380700;9382863;9405360;9490716;9497313;9539769;9545226;9604935;9606180;9671725;9687510;9751720;9826670;9927426;9990005", "class_list": "", "function": "Increased Actin Binding Is a Shared Molecular Consequence of Numerous SCA5 Mutations in beta-III-Spectrin. Publication Status: Online-Only, [RefSeq, PubMed]; Probably plays an important role in neuronal membrane skeleton., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; SPTBN2 regulated by miR-214-3p inhibits the proliferation and migration of colorectal cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; SPTBN2 suppresses ferroptosis in NSCLC cells by facilitating SLC7A11 membrane trafficking and localization., [RefSeq, PubMed]; Spectrins are principle components of a cell's membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. The protein encoded by this gene (SPTBN2), is called spectrin beta non-erythrocytic 2 or beta-III spectrin. It is related to, but distinct from, the beta-II spectrin gene which is also known as spectrin beta non-erythrocytic 1 (SPTBN1). SPTBN2 regulates the glutamate signaling pathway by stabilizing the glutamate transporter EAAT4 at the surface of the plasma membrane. Mutations in this gene cause a form of spinocerebellar ataxia, SCA5, that is characterized by neurodegeneration, progressive locomotor incoordination, dysarthria, and uncoordinated eye movements. [provided by RefSeq, Dec 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 43, "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": "O14872;O14873", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0005200 structural constituent of cytoskeleton;GO:0005543 phospholipid binding;GO:0051015 actin filament binding;GO:0045296 cadherin binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005615 extracellular space;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0030054 cell junction", "go_biological_process": "GO:0030036 actin cytoskeleton organization;GO:0016192 vesicle-mediated transport;GO:0051693 actin filament capping;GO:0099150 regulation of postsynaptic specialization assembly", "synthesized_glycan_count": 0, "hit_score": 29.9, "record_id": "O15020-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15400-1", "uniprot_id": [ { "id": "STX7_HUMAN", "url": "https://www.uniprot.org/uniprot/O15400", "type": "external" } ], "mass": 29816.0, "length": 261, "protein_name": "Syntaxin-7", "gene_name": "STX7", "organism": "Human", "refseq_name": "syntaxin-7 isoform a", "refseq_ac": [ { "id": "NP_001313507", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001313507", "type": "external" } ], "gene_names_uniprotkb": "STX7", "gene_names_refseq": "STX7", "protein_names_uniprotkb": "Syntaxin-7", "protein_names_refseq": "syntaxin-7 isoform a", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162); carcinoma (Disease Ontology:DOID:305)", "pathway": " (hsa:8417)", "pathway_count": 1, "publication_count": 57, "publication_id_list": "10564279;10692457;11382755;12665801;15345747;18512783;18578522;18669648;19413330;19651622;19664994;20166139;21081667;21406692;22223895;23186163;23328677;24275569;25502872;25645385;27452731;27726376;27920218;28467828;28649982;28832583;29242379;29314611;29393594;29557506;29632711;30573663;30626607;31154438;31665227;31844290;32157095;32350084;32983136;33043033;33592498;33936100;33968037;33981976;34019948;34171305;34357683;34433824;34932366;35051231;35154160;35251023;35561310;35762511;37031804;38665916;9358037", "class_list": "", "function": "May be involved in protein trafficking from the plasma membrane to the early endosome (EE) as well as in homotypic fusion of endocytic organelles. Mediates the endocytic trafficking from early endosomes to late endosomes and lysosomes., [UniProtKB]; Syntaxin 7 contributes to breast cancer cell invasion by promoting invadopodia formation., [RefSeq, PubMed]; Syntaxin 7 modulates seizure activity in epilepsy., [RefSeq, PubMed]; The protein encoded by this gene is a syntaxin family membrane receptor involved in vesicle transport. The encoded protein binds alpha-SNAP, an important regulator of transport vesicle fusion. Along with syntaxin 13, this protein plays a role in the ordered fusion of endosomes and lysosomes with the phagosome. [provided by RefSeq, May 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "E1P579;Q5SZW2;Q96ES9", "ec_number_list": [], "go_molecular_function": "GO:0019869 chloride channel inhibitor activity;GO:0019905 syntaxin binding;GO:0000149 SNARE binding;GO:0005484 SNAP receptor activity", "go_cellular_component": "GO:0005768 endosome;GO:0005769 early endosome;GO:0005886 plasma membrane;GO:0048471 perinuclear region of cytoplasm;GO:0055037 recycling endosome", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0001916 positive regulation of T cell mediated cytotoxicity;GO:1903076 regulation of protein localization to plasma membrane;GO:0051640 organelle localization;GO:0070925 organelle assembly", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "O15400-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60224-1", "uniprot_id": [ { "id": "SSX4_HUMAN", "url": "https://www.uniprot.org/uniprot/O60224", "type": "external" } ], "mass": 21858.0, "length": 188, "protein_name": "Protein SSX4", "gene_name": "SSX4B; SSX4", "organism": "Human", "refseq_name": "protein SSX4 isoform a", "refseq_ac": [ { "id": "NP_001030004", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001030004", "type": "external" } ], "gene_names_uniprotkb": "SSX4B; SSX4; SSX4A", "gene_names_refseq": "CT5.4; SSX4B", "protein_names_uniprotkb": "Protein SSX4; CT5.4; Cancer/testis antigen 5.4", "protein_names_refseq": "cancer/testis antigen 5.4; protein SSX4 isoform a; protein SSX4; synovial sarcoma, X breakpoint 4B", "tax_id": 9606, "disease": "", "pathway": " (hsa:548313); (hsa:6759)", "pathway_count": 2, "publication_count": 3, "publication_id_list": "24715725;32157095;9378559", "class_list": "", "function": "Could act as a modulator of transcription., [UniProtKB]; The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) translocation characteristically found in all synovial sarcomas. This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on chromosome X. Chromosome Xp11 contains a segmental duplication resulting in two identical copies of synovial sarcoma, X breakpoint 4, SSX4 and SSX4B, in tail-to-tail orientation. This gene, SSX4B, represents the more centromeric copy. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A8MYD4;B2RPE3;Q3SYD4;Q5JQZ0;Q9UJU9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "O60224-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0CG40-1", "uniprot_id": [ { "id": "SP9_HUMAN", "url": "https://www.uniprot.org/uniprot/P0CG40", "type": "external" } ], "mass": 48915.0, "length": 484, "protein_name": "Transcription factor Sp9", "gene_name": "SP9", "organism": "Human", "refseq_name": "transcription factor Sp9", "refseq_ac": [ { "id": "NP_001138722", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138722", "type": "external" } ], "gene_names_uniprotkb": "SP9", "gene_names_refseq": "SP9; ZNF990", "protein_names_uniprotkb": "Transcription factor Sp9", "protein_names_refseq": "Sp9 transcription factor homolog; transcription factor Sp9; zinc finger protein 990", "tax_id": 9606, "disease": "", "pathway": " (hsa:100131390)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "10.1101/2023.09.13.557529;25502872;26992070;29237092;30833945;31375868;32387766;34171305;34357683;34509645;37217939;38288683", "class_list": "", "function": "De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity., [RefSeq, PubMed]; Transcription factor which plays a key role in limb development. Positively regulates FGF8 expression in the apical ectodermal ridge (AER) and contributes to limb outgrowth in embryos (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": 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": 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": [], "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: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:0030326 embryonic limb morphogenesis", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "P0CG40-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0CL83-1", "uniprot_id": [ { "id": "ST3L1_HUMAN", "url": "https://www.uniprot.org/uniprot/P0CL83", "type": "external" } ], "mass": 23775.0, "length": 205, "protein_name": "Putative STAG3-like protein 1", "gene_name": "STAG3L1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "STAG3L1", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative STAG3-like protein 1; Stromal antigen 3-like protein 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 11, "publication_id_list": "23481700;25418920;25892735;28832583;29242379;30315122;31844290;32357974;32387766;33141586;33936100", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NMT8;A8K0A1;Q32NE4;Q6NXR2;Q7L5M5;Q7Z5K6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "P0CL83-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35321-1", "uniprot_id": [ { "id": "SPR1A_HUMAN", "url": "https://www.uniprot.org/uniprot/P35321", "type": "external" } ], "mass": 9877.0, "length": 89, "protein_name": "Cornifin-A", "gene_name": "SPRR1A", "organism": "Human", "refseq_name": "cornifin-A", "refseq_ac": [ { "id": "NP_001186757", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186757", "type": "external" } ], "gene_names_uniprotkb": "SPRR1A", "gene_names_refseq": "SPRK; SPRR1A", "protein_names_uniprotkb": "Cornifin-A; 19 kDa pancornulin; SPR-IA; SPRK; Small proline-rich protein IA", "protein_names_refseq": "19 kDa pancornulin; SPR-IA; cornifin-A; small proline-rich protein IA", "tax_id": 9606, "disease": "", "pathway": " (hsa:6698); (R-HSA-6809371)", "pathway_count": 2, "publication_count": 46, "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;26374642;26390218;30652380;32983136;35263193;35768785;37468478;7543090;7829876;8018055;8325635;8824274;8999895;9395522;9565599", "class_list": "", "function": "Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the formation of an insoluble envelope beneath the plasma membrane., [UniProtKB]; SPRR1A is a key downstream effector of MiR-150 during both maladaptive cardiac remodeling in mice and human cardiac fibroblast activation. Publication Status: Online-Only, [RefSeq, PubMed]; Small proline-rich protein 1A promotes lung adenocarcinoma progression and indicates unfavorable clinical outcomes., [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]; The combined use of EFS, GPX2, and SPRR1A expression could distinguish favorable from poor clinical outcome among epithelial-like head and neck carcinoma subtypes., [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": 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": "B1AN47;D3DV31;Q2M303;Q9UDG4", "ec_number_list": [], "go_molecular_function": "GO:0005198 structural molecule activity;GO:0030280 structural constituent of skin epidermis", "go_cellular_component": "GO:0005829 cytosol;GO:0001533 cornified envelope", "go_biological_process": "GO:0008544 epidermis development;GO:0030216 keratinocyte differentiation;GO:0018149 peptide cross-linking;GO:0070268 cornification", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "P35321-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P50453-1", "uniprot_id": [ { "id": "SPB9_HUMAN", "url": "https://www.uniprot.org/uniprot/P50453", "type": "external" } ], "mass": 42404.0, "length": 376, "protein_name": "Serpin B9", "gene_name": "SERPINB9", "organism": "Human", "refseq_name": "serpin B9", "refseq_ac": [ { "id": "NP_004146", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004146", "type": "external" } ], "gene_names_uniprotkb": "SERPINB9; PI9", "gene_names_refseq": "CAP-3; CAP3; PI-9; PI9; SERPINB9", "protein_names_uniprotkb": "Serpin B9; CAP-3; CAP3; Cytoplasmic antiproteinase 3; PI-9; Peptidase inhibitor 9", "protein_names_refseq": "cytoplasmic antiproteinase 3; peptidase inhibitor 9; protease inhibitor 9 (ovalbumin type); serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9; serpin B9; serpin peptidase inhibitor, clade B (ovalbumin), member 9; serpin peptidase inhibitor, clade B, member 9; testicular tissue protein Li 180", "tax_id": 9606, "disease": "", "pathway": " (hsa:5272)", "pathway_count": 1, "publication_count": 61, "publication_id_list": "19664994;22223895;23481700;23783831;24366607;24714562;25576301;25880248;26154972;26375851;26728094;27600516;27655845;27846572;27862975;27920218;28467828;28832583;28904123;29242379;29493099;29508533;29557506;29632711;29786170;30315122;30429286;30779550;31154438;31530632;31844290;31848261;31998317;32157095;32350084;32357974;32387766;32502341;32938616;32983136;33123756;33691108;33717175;33912179;33968037;33981976;34357683;34433824;34932366;35051231;35154160;35580925;36241641;36284347;36931661;37991604;38226993;38347163;40914422;8530382;8910377", "class_list": "", "function": "Granzyme B inhibitor., [UniProtKB]; Mass Spectrometry-Based Proteomics Identifies Serpin B9 as a Key Protein in Promoting Bone Metastases in Lung Cancer., [RefSeq, PubMed]; Overexpression of SerpinB9 in non-seminomatous germ cell tumors., [RefSeq, PubMed]; Serpin B9 controls tumor cell killing by CAR T cells., [RefSeq, PubMed]; The expression analysis of SerpinB9 in hepatoblastoma microenvironment. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the serine protease inhibitor family which are also known as serpins. The encoded protein belongs to a subfamily of intracellular serpins. This protein inhibits the activity of the effector molecule granzyme B. Overexpression of this protein may prevent cytotoxic T-lymphocytes from eliminating certain tumor cells. A pseudogene of this gene is found on chromosome 6. [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RBW3;Q5TD03", "ec_number_list": [], "go_molecular_function": "GO:0002020 protease binding;GO:0004867 serine-type endopeptidase inhibitor activity;GO:0043027 cysteine-type endopeptidase inhibitor activity involved in apoptotic process", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0006955 immune response;GO:0043066 negative regulation of apoptotic process;GO:0042270 protection from natural killer cell mediated cytotoxicity;GO:0071391 cellular response to estrogen stimulus;GO:0002448 mast cell mediated immunity", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "P50453-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P61009-1", "uniprot_id": [ { "id": "SPCS3_HUMAN", "url": "https://www.uniprot.org/uniprot/P61009", "type": "external" } ], "mass": 20313.0, "length": 180, "protein_name": "Signal peptidase complex subunit 3", "gene_name": "SPCS3", "organism": "Human", "refseq_name": "signal peptidase complex subunit 3", "refseq_ac": [ { "id": "NP_068747", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068747", "type": "external" } ], "gene_names_uniprotkb": "SPCS3; PRO3567; SPC22", "gene_names_refseq": "PRO3567; SPC22/23; SPC22; SPC23; SPC3; SPCS3; YLR066W", "protein_names_uniprotkb": "Signal peptidase complex subunit 3; Microsomal signal peptidase 22/23 kDa subunit; SPC22/23; SPase 22/23 kDa subunit", "protein_names_refseq": "SPase 22 kDa subunit; SPase 22/23 kDa subunit; microsomal signal peptidase 22/23 kDa subunit; microsomal signal peptidase 23 kDa subunit; signal peptidase complex subunit 3 homolog; signal peptidase complex subunit 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:60559); (R-HSA-1799339); (R-HSA-381771); (R-HSA-400511); (R-HSA-422085); (R-HSA-9768727); (R-HSA-9828806); (R-HSA-9918432)", "pathway_count": 8, "publication_count": 133, "publication_id_list": "10228156;10366038;10604470;11089560;11230166;11564718;11600536;11756331;11964406;11978683;12050285;12354137;12414809;12540594;12553549;12651102;12810581;12853463;12975309;14599721;14719035;14719797;1499644;15126524;15126574;15142980;15256494;15584901;15604212;15619630;16171404;16219666;16469117;16728727;17065399;17261850;17289852;17595255;17681422;18166647;18202141;18396350;18443287;18455985;18491227;18519800;18593849;19001044;19159218;19280057;19327128;19628676;20444697;22375065;24681004;24715725;24966173;25418920;25469497;25576301;25645385;26154972;26208004;26375851;26416966;26728094;26811146;26929215;26992070;27255086;27383988;27452731;27499293;27846572;27920218;28063628;28218747;28228285;28228593;28446606;28510447;28512129;28832583;2890159;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29786170;30315122;30429286;30828317;31092671;31154438;31324691;31530632;31844290;31848261;32157095;32265295;32357974;32387766;32897882;32938616;32983136;33592498;33691108;33717175;33912179;33968037;34019948;34357683;34388369;34932366;35051231;35215835;35580925;36010968;36241641;36284347;3841689;38665916;38793607;3900195;7883856;7982500;8100523;8428636;8798518;9631292", "class_list": "", "function": "(Microbial infection) Plays an important role in virion production of flaviviruses such as West Nile virus, Japanese enchephalitis virus, Dengue virus type 2 and Yellow Fever virus., [UniProtKB, PubMed]; Essential component of the signal peptidase complex (SPC) which catalyzes the cleavage of N-terminal signal sequences from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum (PubMed:27499293, PubMed:34388369). Essential for the SPC catalytic activity, possibly by stabilizing and positioning the active center of the complex close to the lumenal surface (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": 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": 2, "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": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "P12280;Q9H0S7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:0005787 signal peptidase complex", "go_biological_process": "GO:0019082 viral protein processing;GO:0006508 proteolysis;GO:0045047 protein targeting to ER;GO:0006465 signal peptide processing", "synthesized_glycan_count": 0, "hit_score": 13.8, "record_id": "P61009-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q05066-1", "uniprot_id": [ { "id": "SRY_HUMAN", "url": "https://www.uniprot.org/uniprot/Q05066", "type": "external" } ], "mass": 23884.0, "length": 204, "protein_name": "Sex-determining region Y protein", "gene_name": "SRY", "organism": "Human", "refseq_name": "sex-determining region Y protein", "refseq_ac": [ { "id": "NP_003131", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003131", "type": "external" } ], "gene_names_uniprotkb": "SRY; TDF", "gene_names_refseq": "SRXX1; SRXY1; SRY; TDF; TDY", "protein_names_uniprotkb": "Sex-determining region Y protein; Testis-determining factor", "protein_names_refseq": "essential protein for sex determination in human males; sex-determining region Y protein; sex-determining region on Y; testis-determining factor on Y", "tax_id": 9606, "disease": "46,XX sex reversal 1 (Disease Ontology:DOID:0111761); 46,XY sex reversal 1 (Disease Ontology:DOID:0111778); 46,XY complete gonadal dysgenesis (Disease Ontology:DOID:14448)", "pathway": " (hsa:6736); (R-HSA-3769402); (R-HSA-9690406)", "pathway_count": 3, "publication_count": 98, "publication_id_list": "10549281;10602113;10670762;10721678;10732804;10843173;10852465;10898789;10921920;10944533;11207191;11278460;11563911;11691915;11818535;12107262;12408824;12408825;12712206;12764225;12793612;12871148;12970737;1339396;1415266;1425584;14600025;14685266;1483689;15132997;15170344;15297880;15327769;15469996;15525529;1570829;15746192;15889150;16414182;16510874;16762365;16813837;16904257;1695712;16996051;17063144;17218525;17412698;17698607;17875931;18378692;18445271;18456656;18573912;18598779;18819930;19047045;19349578;19364920;19372376;19590513;19928349;19940019;21412441;22304967;2247149;22899867;24291232;28030592;28472341;30552336;31844290;32387766;34509645;38555298;7557997;7717397;7774012;7776083;7985018;8019555;8105086;8159753;8244390;8257986;8265659;8353496;8434602;8447323;9054412;9143916;9450909;9521592;9525897;9652903;9678356;9774680;9815658", "class_list": "", "function": "A conserved NR5A1-responsive enhancer regulates SRY in testis-determination. Publication Status: Online-Only, [RefSeq, PubMed]; Includes the study of a disease-related upstream ORF in this gene, and shows that it functions to reduce protein levels by 100%., [RefSeq, PubMed]; This intronless gene encodes a transcription factor that is a member of the high mobility group (HMG)-box family of DNA-binding proteins. This protein is the testis-determining factor (TDF), which initiates male sex determination. Mutations in this gene give rise to XY females with gonadal dysgenesis (Swyer syndrome); translocation of part of the Y chromosome containing this gene to the X chromosome causes XX male syndrome. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptional regulator that controls a genetic switch in male development (PubMed:11563911). It is necessary and sufficient for initiating male sex determination by directing the development of supporting cell precursors (pre-Sertoli cells) as Sertoli rather than granulosa cells (PubMed:16414182, PubMed:16996051). Involved in different aspects of gene regulation including promoter activation or repression (PubMed:9525897). Binds to the DNA consensus sequence 5'-[AT]AACAA[AT]-3' (PubMed:11563911, PubMed:1425584, PubMed:15170344, PubMed:8159753, PubMed:8265659). SRY HMG box recognizes DNA by partial intercalation in the minor groove and promotes DNA bending (PubMed:11563911, PubMed:1425584, PubMed:15170344, PubMed:16762365, PubMed:8159753, PubMed:8265659). Also involved in pre-mRNA splicing (PubMed:11818535). In male adult brain involved in the maintenance of motor functions of dopaminergic neurons (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 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": "", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0005516 calmodulin 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:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016607 nuclear speck;GO:0000785 chromatin", "go_biological_process": "GO:2000020 positive regulation of male gonad development;GO:0006351 DNA-templated transcription;GO:0010628 positive regulation of gene expression;GO:0030154 cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "Q05066-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q05952-1", "uniprot_id": [ { "id": "STP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q05952", "type": "external" } ], "mass": 15641.0, "length": 138, "protein_name": "Nuclear transition protein 2", "gene_name": "TNP2", "organism": "Human", "refseq_name": "nuclear transition protein 2", "refseq_ac": [ { "id": "NP_005416", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005416", "type": "external" } ], "gene_names_uniprotkb": "TNP2", "gene_names_refseq": "TNP2; TP2", "protein_names_uniprotkb": "Nuclear transition protein 2; TP-2; TP2", "protein_names_refseq": "TP-2; nuclear transition protein 2; transition protein 2 (during histone to protamine replacement)", "tax_id": 9606, "disease": "", "pathway": " (hsa:7142)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "10659848;11237011;1385303;25536093;33440036;34235877;7983046;8428967;9809674", "class_list": "", "function": "Plays a key role in the replacement of histones to protamine in the elongating spermatids of mammals. In condensing spermatids, loaded onto the nucleosomes, where it promotes the recruitment and processing of protamines, which are responsible for histone eviction., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Spermatozoa retrieval in azoospermia and expression profile of JMJD1A, TNP2, and PRM2 in a subset of the Karachi population., [RefSeq, PubMed]; The quantity of PRM1, PRM2, and TNP2 transcripts and the PRM1/PRM2 mRNA ratio affect spermiogenesis, sperm morphology, [RefSeq, PubMed]; Tobacco smoking and its impact on the expression level of sperm nuclear protein genes: H2BFWT, TNP1, TNP2, PRM1 and PRM2., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9NZB0", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005730 nucleolus;GO:0000786 nucleosome", "go_biological_process": "GO:0007283 spermatogenesis;GO:0010954 positive regulation of protein processing;GO:0007340 acrosome reaction;GO:0007341 penetration of zona pellucida;GO:0035092 sperm DNA condensation", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q05952-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14140-1", "uniprot_id": [ { "id": "SRTD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14140", "type": "external" } ], "mass": 33897.0, "length": 314, "protein_name": "SERTA domain-containing protein 2", "gene_name": "SERTAD2", "organism": "Human", "refseq_name": "SERTA domain-containing protein 2", "refseq_ac": [ { "id": "NP_055570", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055570", "type": "external" } ], "gene_names_uniprotkb": "SERTAD2; KIAA0127; TRIPBR2", "gene_names_refseq": "SERTAD2; Sei-2; TRIP-Br2; TRIPBR2", "protein_names_uniprotkb": "SERTA domain-containing protein 2; TRIP-Br2; Transcriptional regulator interacting with the PHD-bromodomain 2", "protein_names_refseq": "SERTA domain-containing protein 2; transcriptional regulator interacting with the PHD-bromodomain 2; transcriptional regulator interacting with the PHS-bromodomain 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:9792)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11331592;18316374;19152710;23291629;28121444;28649982;28904123;29393594;30379171;31844290;32938616;33592498;33717175;33912179;33968037;35051231;35115490", "class_list": "", "function": "Acts at E2F-responsive promoters as coregulator to integrate signals provided by PHD- and/or bromodomain-containing transcription factors. May act as coactivator as well as corepressor of E2F1-TFDP1 and E2F4-TFDP1 complexes on E2F consensus binding sites, which would activate or inhibit E2F-target genes expression. Modulates fat storage by down-regulating the expression of key genes involved in adipocyte lipolysis, thermogenesis and oxidative metabolism., [UniProtKB, PubMed]; CRM1-mediated nuclear export may be required for the proper execution of ubiquitin-proteasome-dependent degradation of TRIP-Br2, [RefSeq, PubMed]; REV1 promotes lung tumorigenesis by activating the Rad18/SERTAD2 axis. Publication Status: Online-Only, [RefSeq, PubMed]; TRIP-Br2 is frequently overexpressed in both cancer cell lines and multiple human tumors. Publication Status: Online-Only, [RefSeq, PubMed]; TRIP-Br2, modulates fat storage through simultaneous regulation of lipolysis, thermogenesis and oxidative metabolism., [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": 5, "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": "Q53TS2", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0030308 negative regulation of cell growth", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q14140-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15527-1", "uniprot_id": [ { "id": "SURF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15527", "type": "external" } ], "mass": 29618.0, "length": 256, "protein_name": "Surfeit locus protein 2", "gene_name": "SURF2", "organism": "Human", "refseq_name": "surfeit locus protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001265857", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265857", "type": "external" } ], "gene_names_uniprotkb": "SURF2", "gene_names_refseq": "SURF-2; SURF2", "protein_names_uniprotkb": "Surfeit locus protein 2; Surf-2", "protein_names_refseq": "surfeit locus protein 2 isoform 2; surfeit locus protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:6835)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "18669648;19690332;20068231;21406692;23186163;28832583;28834231;29242379;31154438;31848261;36284347;7702754", "class_list": "", "function": "This gene shares a bidirectional promoter with surfeit 1 (SURF1; GeneID: 6834), which is located on the opposite strand. It encodes a conserved protein that is expressed in a variety of tissues. [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": 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": "Q6IBP9;Q96CD1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q15527-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4G0T1-1", "uniprot_id": [ { "id": "SRCRM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4G0T1", "type": "external" } ], "mass": 108611.0, "length": 1027, "protein_name": "Scavenger receptor cysteine-rich domain-containing protein SCART1", "gene_name": "SCART1", "organism": "Human", "refseq_name": "scavenger receptor cysteine-rich domain-containing protein SCART1 precursor", "refseq_ac": [ { "id": "NP_001382979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001382979", "type": "external" } ], "gene_names_uniprotkb": "SCART1", "gene_names_refseq": "SCART1", "protein_names_uniprotkb": "Scavenger receptor cysteine-rich domain-containing protein SCART1; Scavenger receptor family member expressed on T cells 1", "protein_names_refseq": "CD163c-alpha; scavenger receptor cysteine-rich domain-containing protein SCART1 precursor; scavenger receptor cysteine-rich domain-containing protein SCART1; scavenger receptor protein family member", "tax_id": 9606, "disease": "", "pathway": " (hsa:619207)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "22795646;24190977;24715725;26154972;26811146;29242379;30779550;31217245;31844290;33298915;33691108;34932366;35051231;38253038;39894887", "class_list": "", "function": "May play a role in the immune system, perhaps as a co-receptor on alphabeta and gammadelta T-cells., [UniProtKB, PubMed]; The characterization of hSCART1 at the mRNA and protein level suggests that the protein plays a role in the immune system, perhaps as a co-receptor on alphabeta and gammadelta T cells., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "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": 16, "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": "C9K0L3", "ec_number_list": [], "go_molecular_function": "GO:0005044 scavenger receptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005903 brush border", "go_biological_process": "GO:0002456 T cell mediated immunity;GO:0002365 gamma-delta T cell lineage commitment", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q4G0T1-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q58G82-1", "uniprot_id": [ { "id": "SY14L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q58G82", "type": "external" } ], "mass": 21436.0, "length": 188, "protein_name": "Putative synaptotagmin-14-like protein", "gene_name": "SYT14P1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "SYT14P1; SYT14LP1; SYT14L; SYTDEP", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative synaptotagmin-14-like protein; Synaptotagmin XIV protein pseudogene 1; Synaptotagmin XIV-derived protein; Synaptotagmin XIV-like protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 4, "publication_id_list": "11543631;16376304;23999003;24715725", "class_list": "", "function": "Plays a role in melanocyte differentiation; enhances dendrite outgrowth, melanin content and tyrosinase activity through the modulation of ERK and/or CREB pathways (PubMed:23999003)., [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": "A2RTZ8;Q9BQR7", "ec_number_list": [], "go_molecular_function": "GO:0005543 phospholipid binding", "go_cellular_component": "", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0030318 melanocyte differentiation", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q58G82-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5MJ10-1", "uniprot_id": [ { "id": "SPXN2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5MJ10", "type": "external" } ], "mass": 19917.0, "length": 180, "protein_name": "Sperm protein associated with the nucleus on the X chromosome N2", "gene_name": "SPANXN2", "organism": "Human", "refseq_name": "sperm protein associated with the nucleus on the X chromosome N2", "refseq_ac": [ { "id": "NP_001009615", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009615", "type": "external" } ], "gene_names_uniprotkb": "SPANXN2", "gene_names_refseq": "CT11.7; SPANX-N2; SPANXN2", "protein_names_uniprotkb": "Sperm protein associated with the nucleus on the X chromosome N2; Nuclear-associated protein SPAN-Xn2; SPANX family member N2; SPANX-N2", "protein_names_refseq": "cancer/testis antigen family 11, member 7; nuclear-associated protein SPAN-Xn2; sperm protein associated with the nucleus on the X chromosome N2", "tax_id": 9606, "disease": "", "pathway": " (hsa:494119)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "14973187;16251457;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": 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": "Q0ZNM2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q5MJ10-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5MJ68-1", "uniprot_id": [ { "id": "SPDYC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5MJ68", "type": "external" } ], "mass": 31078.0, "length": 274, "protein_name": "Speedy protein C", "gene_name": "SPDYC", "organism": "Human", "refseq_name": "speedy protein C", "refseq_ac": [ { "id": "NP_001008778", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008778", "type": "external" } ], "gene_names_uniprotkb": "SPDYC", "gene_names_refseq": "RINGOC; Ringo2; SPDYC", "protein_names_uniprotkb": "Speedy protein C; RINGO C; Rapid inducer of G2/M progression in oocytes C; hSpy/Ringo C", "protein_names_refseq": "RINGO C; hSpy/Ringo C; rapid inducer of G2/M progression in oocytes C; speedy homolog C; speedy protein C", "tax_id": 9606, "disease": "", "pathway": " (hsa:387778)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "15611625;18802405;20605920;29786170", "class_list": "", "function": "CDK-Speedy/Ringo C complexes positively regulate cell cycle progression during the late S and G(2) phases of the cell cycle., [RefSeq, PubMed]; Promotes progression through the cell cycle via binding and activation of CDK1 and CDK2. Involved in the spindle-assembly checkpoint. Required for recruitment of MAD2L1, BUBR1 and BUB1 to kinetochores. Required for the correct localization of the active form of Aurora B in prometaphase., [UniProtKB, PubMed, PubMed]; Results indicate a role for RINGO C in the mitotic checkpoint, which might be mediated by defective recruitment of SAC components and deregulation of the activity of Aurora kinase B., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B2RP32;B7ZMH7", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q5MJ68-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VX52-1", "uniprot_id": [ { "id": "SPAT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VX52", "type": "external" } ], "mass": 52946.0, "length": 459, "protein_name": "Spermatogenesis-associated protein 1", "gene_name": "SPATA1", "organism": "Human", "refseq_name": "spermatogenesis-associated protein 1 isoform X4", "refseq_ac": [ { "id": "XP_011540818", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_011540818", "type": "external" } ], "gene_names_uniprotkb": "SPATA1", "gene_names_refseq": "SP-2; SPAP1; SPATA1", "protein_names_uniprotkb": "Spermatogenesis-associated protein 1; Sperm-specific protein SP-2", "protein_names_refseq": "spermatogenesis-associated protein 1 isoform X4", "tax_id": 9606, "disease": "", "pathway": " (hsa:100505741)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;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": "A0A1W2PQB0;A0PJU9;Q0VDJ9;Q0VDK0;Q6P386;Q9HAR4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0001669 acrosomal vesicle", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q5VX52-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q658P3-1", "uniprot_id": [ { "id": "STEA3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q658P3", "type": "external" } ], "mass": 54601.0, "length": 488, "protein_name": "Metalloreductase STEAP3", "gene_name": "STEAP3", "organism": "Human", "refseq_name": "metalloreductase STEAP3 isoform b", "refseq_ac": [ { "id": "NP_001008410", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008410", "type": "external" } ], "gene_names_uniprotkb": "STEAP3; TSAP6", "gene_names_refseq": "AHMIO2; STEAP3; STMP3; TSAP6; dudlin-2; dudulin-2; pHyde", "protein_names_uniprotkb": "Metalloreductase STEAP3; 1.16.1.-; Dudulin-2; Six-transmembrane epithelial antigen of prostate 3; Tumor suppressor-activated pathway protein 6; hTSAP6; hpHyde; pHyde", "protein_names_refseq": "STEAP family member 3, metalloreductase; ferrireductase; metalloreductase STEAP3 isoform b; metalloreductase STEAP3; six-transmembrane epithelial antigen of prostate 3; tumor suppressor pHyde; tumor suppressor-activated pathway protein 6", "tax_id": 9606, "disease": "hypochromic microcytic anemia (Disease Ontology:DOID:0050642)", "pathway": " (hsa:55240); (R-HSA-6803204); (R-HSA-9013148); (R-HSA-9013405); (R-HSA-9013406); (R-HSA-9013409); (R-HSA-9035034); (R-HSA-917977)", "pathway_count": 8, "publication_count": 327, "publication_id_list": "10232922;10409623;10464238;10490598;10523665;10523675;10526156;10559246;10579713;10699171;10699464;10724160;10802645;10807576;10873802;10967094;10969787;11007481;11030628;11058585;11085924;11149925;11185749;11237011;11306516;11373293;11396949;11431473;11432776;11511362;11584276;11606631;11672528;11684014;11696321;11704860;11756552;11773441;11784792;11800564;11804587;11804589;11804590;11884391;11912491;11948177;12071859;12093360;12096337;12172552;12195014;12221096;12242347;12351724;12402042;12432077;12456725;12464619;12531241;12531887;12547822;12577064;12606722;12650940;12773384;12857875;12860998;12866033;12877655;12907671;14506234;14512443;14729977;15023524;15064355;15107133;15126337;15133129;15147912;15157669;15260990;15273740;15302923;15304341;15319436;15342493;15485661;15546864;15601624;15607964;15611138;15710388;15728722;15735003;15850391;15885357;15897194;15897894;16112081;16116428;16184169;16217026;16227996;16519628;16564538;16609065;16630611;16651434;16714282;16777452;16777849;16793765;16862148;16896804;16968698;17064668;17077126;17081983;17145773;17196961;17214551;17244649;17349958;17599059;17662945;17702745;17729390;17765681;17804252;17916560;17932950;17976533;18045877;18056264;18218625;18363964;18426980;18495927;18578522;18617898;18653540;18786931;18794901;18835169;18838382;18929667;19258391;19377469;19605563;19651622;19713215;19934221;20068231;20166139;20233848;20679435;21119010;21148482;21454492;21542010;21565175;21613211;21685891;21865595;21989057;22004470;22031863;22096251;22298643;22334068;22461490;22571869;22608513;22624035;22665057;22766503;22970203;22971344;23029280;23087206;23096567;23186163;23200924;23255595;23365256;23406282;23434736;23572525;23684607;23718289;23931759;24086303;24102721;24259668;24275569;24297911;24335996;24352656;24355937;24584464;24933155;24996924;25024229;25080938;25211221;25668492;25678704;25704760;25721503;25746724;25795300;25862245;25963737;26071602;26129894;26205815;26299518;26529257;26598554;26887924;26992070;27096001;27145964;27216196;27278019;27452731;27481945;27555588;27798618;27852748;28028151;28196833;28218747;28467828;28486133;28514659;28825699;28860633;28947137;29242379;29437277;29557506;29632711;29776664;29786170;30061681;30315122;30337524;30410026;30429286;30524438;30573663;30853411;31154438;31844290;31871319;32157095;32203420;32302585;32350084;32357974;32387766;32938616;32983136;33043033;33298915;33392160;33592498;33912179;33936100;33968037;33981976;34078123;34087483;34357683;34405274;34433824;34509645;34932366;35051231;35154160;35251023;35275508;35318648;36010968;36215666;36495944;37074911;38440354;38480539;6141558;6309857;7479768;7512369;7673236;7721814;7753201;7834749;8021274;8537347;8643598;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8810315;8816443;8945468;8994827;9013646;9113980;9268338;9305890;9405671;9438849;9465039;9490638;9497316;9659915;9670022;9829970;9843499;9846874;9857026", "class_list": "", "function": "Integral membrane protein that functions as a NADPH-dependent ferric-chelate reductase, using NADPH from one side of the membrane to reduce a Fe(3+) chelate that is bound on the other side of the membrane (PubMed:26205815). Mediates sequential transmembrane electron transfer from NADPH to FAD and onto heme, and finally to the Fe(3+) chelate (By similarity). Can also reduce Cu(2+) to Cu(1+) (By similarity). Mediates efficient transferrin-dependent iron uptake in erythroid cells (By similarity). May play a role downstream of p53/TP53 to interface apoptosis and cell cycle progression (By similarity). Indirectly involved in exosome secretion by facilitating the secretion of proteins such as TCTP (PubMed:15319436, PubMed:16651434)., [UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB, UniProtKB, PubMed]; STEAP3 Affects Ferroptosis and Progression of Renal Cell Carcinoma Through the p53/xCT Pathway., [RefSeq, PubMed]; STEAP3 Affects Ovarian Cancer Progression by Regulating Ferroptosis through the p53/SLC7A11 Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; STEAP3 promotes colon cancer cell proliferation and migration via regulating histone acetylation., [RefSeq, PubMed]; Six-Transmembrane Epithelial Antigen of Prostate 3 Promotes Hepatic Insulin Resistance and Steatosis., [RefSeq, PubMed]; TSAP6 may augment Myt1 activity and act downstream to p53 to interface apoptosis and cell-cycle progression, [RefSeq, PubMed]; This gene encodes a multipass membrane protein that functions as an iron transporter. The encoded protein can reduce both iron (Fe3+) and copper (Cu2+) cations. This protein may mediate downstream responses to p53, including promoting apoptosis. Deficiency in this gene can cause anemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 9, "reported_mutagensis": 20, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K6E3;Q4VBR2;Q4ZG36;Q53SQ8;Q7Z389;Q86SF6;Q8NEW6;Q8TDP3;Q8TF03;Q9NVB5", "ec_number_list": [ { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.1.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.4", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.95", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.95", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "1.16.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.1.-", "type": "external" }, { "id": "3.4.22.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.-", "type": "external" } ], "go_molecular_function": "GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0071949 FAD binding;GO:0020037 heme binding;GO:0008823 cupric reductase (NADH) activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005886 plasma membrane;GO:0010008 endosome membrane;GO:0005771 multivesicular body", "go_biological_process": "GO:0006915 apoptotic process;GO:0009306 protein secretion;GO:0015677 copper ion import;GO:0006826 iron ion transport", "synthesized_glycan_count": 0, "hit_score": 33.3, "record_id": "Q658P3-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IXZ3-3", "uniprot_id": [ { "id": "SP8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IXZ3", "type": "external" } ], "mass": 48674.0, "length": 490, "protein_name": "Transcription factor Sp8", "gene_name": "SP8", "organism": "Human", "refseq_name": "transcription factor Sp8 isoform 1", "refseq_ac": [ { "id": "NP_874359", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_874359", "type": "external" } ], "gene_names_uniprotkb": "SP8", "gene_names_refseq": "SP8", "protein_names_uniprotkb": "Transcription factor Sp8; Specificity protein 8", "protein_names_refseq": "specificity protein 8; transcription factor Sp8 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:221833)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "15533246;20386566;20634891;23967141;26733200;29242379;29557506;31375868;32157095;32897882;32983136;33392160;33633747;33968037;34171305;34509645;35051231;35580925", "class_list": "", "function": "Data suggest expression of transcription factor p8/SP8 is up-regulated in endoplasmic reticulum stress due to lipotoxicity; overexpression of SP8 up-regulates autophagy; autophagy due to lipotoxicity requires SP8; these reactions are mTOR-independent., [RefSeq, PubMed]; Genetic variants on 3q21 and in the Sp8 transcription factor gene (SP8) as susceptibility loci for psychotic disorders. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is an SP family transcription factor that in mouse has been shown to be essential for proper limb development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]., [RefSeq]; This study provided that SP8 are associated with Bipolar I in the Han Chinese population, [RefSeq, PubMed]; Transcription factor which plays a key role in limb development. Positively regulates FGF8 expression in the apical ectodermal ridge (AER) and contributes to limb outgrowth in embryos (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": "Q7Z615;Q7Z616;Q96MJ1", "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: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", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q8IXZ3-3", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N9U9-1", "uniprot_id": [ { "id": "SPOT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N9U9", "type": "external" } ], "mass": 13254.0, "length": 137, "protein_name": "Putative uncharacterized protein SPANXA2-OT1", "gene_name": "SPANXA2-OT1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "SPANXA2-OT1; CXorf18", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein SPANXA2-OT1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "26758079;35254053", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q8N9U9-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NBB2-1", "uniprot_id": [ { "id": "STAS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NBB2", "type": "external" } ], "mass": 13907.0, "length": 130, "protein_name": "Putative uncharacterized protein ST20-AS1", "gene_name": "ST20-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ST20-AS1; C15orf37", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein ST20-AS1; ST20 antisense RNA 1; ST20 antisense gene protein 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "31844290", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q8NBB2-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NFR3-1", "uniprot_id": [ { "id": "SPTSB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NFR3", "type": "external" } ], "mass": 9198.0, "length": 76, "protein_name": "Serine palmitoyltransferase small subunit B", "gene_name": "SPTSSB", "organism": "Human", "refseq_name": "serine palmitoyltransferase small subunit B", "refseq_ac": [ { "id": "NP_001035189", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035189", "type": "external" } ], "gene_names_uniprotkb": "SPTSSB; ADMP; C3orf57; SSSPTB", "gene_names_refseq": "ADMP; C3orf57; SPTSSB; SSSPTB", "protein_names_uniprotkb": "Serine palmitoyltransferase small subunit B; Protein ADMP; Small subunit of serine palmitoyltransferase B; ssSPTb", "protein_names_refseq": "androgen down regulated in mouse prostate; likely ortholog of androgen down regulated gene expressed in mouse prostate; serine palmitoyltransferase small subunit B; small subunit of serine palmitoyltransferase B", "tax_id": 9606, "disease": "", "pathway": " (hsa:165679); (R-HSA-1660661)", "pathway_count": 2, "publication_count": 59, "publication_id_list": "10722674;10751414;10802064;10947957;11937514;14685229;14685263;14976195;15063729;15328338;15337768;15777716;16100120;16118219;16571669;16793762;16895911;17023427;17050692;17331073;17355976;17449912;17591919;17982138;18165232;18165233;18184806;19005213;19233134;19416851;19506037;20061445;20110355;20182505;21620961;22517924;22970244;23180825;23602659;23754960;24569996;24782409;25788259;28575652;29563527;30779550;31895563;32488085;34321228;35409383;36902339;36907437;37224812;37390971;4339164;4817756;9188692;9312549;9363775", "class_list": "", "function": "ADMP expression was seen predominantly in the prostate epithelium with weaker expression in the fibroblasts and endothelial cells., [RefSeq, PubMed]; Component of the serine palmitoyltransferase multisubunit enzyme (SPT) that catalyzes the initial and rate-limiting step in sphingolipid biosynthesis by condensing L-serine and activated acyl-CoA (most commonly palmitoyl-CoA) to form long-chain bases (PubMed:19416851). The SPT complex is composed of SPTLC1, SPTLC2 or SPTLC3 and SPTSSA or SPTSSB. Within this complex, the heterodimer consisting of SPTLC1 and SPTLC2/SPTLC3 forms the catalytic core (PubMed:19416851). Within the SPT complex, SPTSSB stimulates the catalytic activity and plays a role in substrate specificity. SPT complexes with this subunit showing a preference for longer acyl-CoAs. The SPTLC1-SPTLC2-SPTSSB complex shows a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SPTSSB isozyme displays an ability to use a broader range of acyl-CoAs, without apparent preference (PubMed:19416851)., [UniProtKB, PubMed]; Serine palmitoyltransferase (SPT; EC 2.3.1.50) catalyzes the first committed and rate-limiting step in sphingolipid biosynthesis. SSSPTB is a small SPT subunit that stimulates SPT activity and confers acyl-CoA preference to the SPT catalytic heterodimer of SPTLC1 (MIM 605712) and either SPTLC2 (MIM 605713) or SPTLC3 (MIM 611120) (Han et al., 2009 [PubMed 19416851]).[supplied by OMIM, 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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B2R5D3;D3DNM8;Q0P5S6", "ec_number_list": [], "go_molecular_function": "GO:0004758 serine C-palmitoyltransferase activity", "go_cellular_component": "GO:0017059 serine palmitoyltransferase complex;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0046513 ceramide biosynthetic process;GO:0030148 sphingolipid biosynthetic process;GO:0046512 sphingosine biosynthetic process;GO:0007029 endoplasmic reticulum organization", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q8NFR3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TBR4-1", "uniprot_id": [ { "id": "ST3L4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TBR4", "type": "external" } ], "mass": 17020.0, "length": 150, "protein_name": "Putative STAG3-like protein 4", "gene_name": "STAG3L4", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "STAG3L4", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative STAG3-like protein 4; Stromal antigen 3-like protein 4", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 4, "publication_id_list": "27543614;28411811;28904123;32983136", "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": "Q9H8W0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8TBR4-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92502-1", "uniprot_id": [ { "id": "STAR8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92502", "type": "external" } ], "mass": 112601.0, "length": 1023, "protein_name": "StAR-related lipid transfer protein 8", "gene_name": "STARD8", "organism": "Human", "refseq_name": "stAR-related lipid transfer protein 8 isoform a", "refseq_ac": [ { "id": "NP_001135975", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135975", "type": "external" } ], "gene_names_uniprotkb": "STARD8; DLC3; KIAA0189", "gene_names_refseq": "ARHGAP38; DLC3; STARD8; STARTGAP3", "protein_names_uniprotkb": "StAR-related lipid transfer protein 8; DLC-3; Deleted in liver cancer 3 protein; START domain-containing protein 8; START-GAP3; StARD8", "protein_names_refseq": "START domain containing 8; StAR-related lipid transfer (START) domain containing 8; deleted in liver cancer 3 protein; stAR-related lipid transfer protein 8 isoform a", "tax_id": 9606, "disease": "gonadal dysgenesis (Disease Ontology:DOID:14447)", "pathway": " (hsa:9754); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013148)", "pathway_count": 4, "publication_count": 279, "publication_id_list": "10037681;10232922;10464238;10490598;10523665;10523675;10526156;10559246;10579713;10619026;10699171;10699464;10724160;10873388;10873802;11007481;11058585;11085924;11149925;11207612;11237011;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11680691;11689693;11696321;11704860;11756552;11773441;11804587;11804589;11804590;11884391;11912491;11948177;12071859;12093360;12096337;12172552;12195014;12221077;12221096;12351724;12432077;12464619;12473120;12531887;12547822;12650940;12773384;12857875;12860998;12877655;12907671;14506234;14512443;15023524;15064355;15107133;15133129;15147912;15157669;15260990;15302923;15304341;15342493;15485661;15601624;15611138;15728722;15850391;15866170;15897194;15944396;16112081;16116428;16184169;16217026;16467373;16519628;16630611;16714282;16776779;16777452;16777849;16862148;16896804;16914516;16917499;16959974;16968698;17064668;17077126;17145773;17196961;17198702;17214551;17244649;17297465;17517630;17562871;17599059;17702745;17765681;17804252;17932950;17942708;17976533;18045877;18056264;18158243;18218625;18363964;18426980;18653540;18786931;18802007;18829452;18835169;18838382;18929667;19494238;19605563;19635168;19673492;19713215;19913121;19934221;20030946;20101212;20400958;20591975;20628200;20660154;20679435;21148482;21351730;21373644;21454492;21542010;21565175;21613211;21685891;21699497;21865595;21936715;21989057;22004470;22096251;22298643;22305756;22461490;22571869;22608513;22673745;22911862;22970203;22992742;23186163;23200924;23255595;23406282;23434736;23481700;23572525;23646949;23718289;23870313;24086303;24128008;24259668;24335996;24352656;24584464;24933155;24996924;25024229;25211221;25505266;25673874;25704760;25721503;25795300;25862245;25963737;26129894;26299518;26371245;26529257;26598554;26887924;27096001;27145964;27216196;27481945;27505894;27555588;27798618;27862975;27986909;28028151;28112683;28196833;28584191;28825699;28860633;29146911;29557506;30061681;30429286;30853411;31076513;31105010;31154438;31844290;31848261;31871319;32161166;32203420;32387766;32488085;32938616;32983136;33968037;33981976;34509645;35051231;35580925;36326091;37982568;38091885;7479768;7512369;7673236;7721814;7753201;8021274;8537347;8543060;8571126;8617235;8643598;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8807639;8810315;8816443;8939998;8994827;9013646;9111050;9113980;9268338;9305890;9405671;9418861;9438849;9490638;9497316;9535835;9548756;9659915;9670022;9792683;9822605;9829970;9843499;9846874", "class_list": "", "function": "A conserved function of Human DLC3 and Drosophila Cv-c in testis development. Publication Status: Online-Only, [RefSeq, PubMed]; A new function for Scribble in Rho regulation that entails positioning of DLC3 GAP activity at cell junctions in polarized epithelial cells, is reported., [RefSeq, PubMed]; Accelerates GTPase activity of RHOA and CDC42, but not RAC1. Stimulates the hydrolysis of phosphatidylinositol 4,5-bisphosphate by PLCD1., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; PYCR1, BANF1, and STARD8 Expression in Gastric Carcinoma: A Clinicopathologic, Prognostic, and Immunohistochemical Study., [RefSeq, PubMed]; Regional bias of tumor suppressor gene mutations of STARD8 and WNK2 in colon cancers., [RefSeq, PubMed]; The authors propose that DLC3 function is required to limit endosomal actin polymerization, Rab4-dependent recycling of MT1-MMP and, consequently, matrix degradation mediated by invadopodial activity. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of a subfamily of Rho GTPase activating proteins that contain a steroidogenic acute regulatory protein related lipid transfer domain. The encoded protein localizes to focal adhesions and may be involved in regulating cell morphology. This protein may also function as a tumor suppressor. [provided by RefSeq, Mar 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "reported_mutagensis": 1, "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": "A8K6T2;D3DVT9;Q5JST0;Q68DG7", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0008289 lipid binding", "go_cellular_component": "GO:0005925 focal adhesion", "go_biological_process": "GO:0007165 signal transduction;GO:0030036 actin cytoskeleton organization;GO:0035023 regulation of Rho protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 28.0, "record_id": "Q92502-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BR10-1", "uniprot_id": [ { "id": "SPT25_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BR10", "type": "external" } ], "mass": 23834.0, "length": 227, "protein_name": "Spermatogenesis-associated protein 25", "gene_name": "SPATA25", "organism": "Human", "refseq_name": "spermatogenesis-associated protein 25", "refseq_ac": [ { "id": "NP_542175", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_542175", "type": "external" } ], "gene_names_uniprotkb": "SPATA25; C20orf165; TSG23", "gene_names_refseq": "C20orf165; SPATA25; TSG23; dJ337O18.8", "protein_names_uniprotkb": "Spermatogenesis-associated protein 25; Testis-specific gene 23 protein", "protein_names_refseq": "spermatogenesis-associated protein 25; testis-specific gene 23 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:128497)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "19240080;35051231", "class_list": "", "function": "May play a role in spermatogenesis., [UniProtKB, PubMed]; Study identified a novel gene, TSG23/Tsg23, which is developmentally & highly expressed in testis; data suggest that TSG23/Tsg23 is involved in human and mouse spermatogenesis, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q9BR10-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXU1-1", "uniprot_id": [ { "id": "STK31_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXU1", "type": "external" } ], "mass": 115694.0, "length": 1019, "protein_name": "Serine/threonine-protein kinase 31", "gene_name": "STK31", "organism": "Human", "refseq_name": "serine/threonine-protein kinase 31 isoform b", "refseq_ac": [ { "id": "NP_001247433", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001247433", "type": "external" } ], "gene_names_uniprotkb": "STK31; SGK396", "gene_names_refseq": "SGK396; STK31; TDRD8", "protein_names_uniprotkb": "Serine/threonine-protein kinase 31; 2.7.11.1; Serine/threonine-protein kinase NYD-SPK; SgK396; Sugen kinase 396", "protein_names_refseq": "serine/threonine-protein kinase 31 isoform b; serine/threonine-protein kinase 31; serine/threonine-protein kinase NYD-SPK; sugen kinase 396; testis tissue sperm-binding protein Li 78m; tudor domain containing 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:56164)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11237011;11279525;17344846;22828137;23328677;24667656;25418920;26929215;28649982;29485866;29715435;30379171;31894338;33091337;33128354;33298915;33392160;33649810;33936100;33968037;34509645;35051231;35389570", "class_list": "", "function": "FBLN1 and STK31 can be possible screening and differentiating biomarkers of colorectal cancer, [RefSeq, PubMed]; High STK31 expression is associated with colon cancer., [RefSeq, PubMed]; Higher miR-543 levels correlate with lower STK31 expression and longer pancreatic cancer survival., [RefSeq, PubMed]; STK31 regulates the proliferation and cell cycle of lung cancer cells via the Wnt/betacatenin pathway and feedback regulation by cmyc., [RefSeq, PubMed]; STK31 upregulation is associated with chromatin remodeling in gastric cancer and induction of tumorigenicity in a xenograft mouse model., [RefSeq, PubMed]; Spastic Paraplegia 20 and Serine/Threonine Protein Kinase 31 Expression for the Detection of Colorectal Cancer., [RefSeq, PubMed]; The aberrant expression of STK31 contributes to tumorigenicity in somatic cancer cells Publication Status: Online-Only, [RefSeq, PubMed]; This gene is similar to a mouse gene that encodes a putative protein kinase with a tudor domain, and shows testis-specific expression. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 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": "B4DZ06;B7WPP5;C9J4F9;Q6PCD3;Q9BXH8", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0004521 RNA endonuclease activity;GO:0106310 protein serine kinase activity;GO:0004672 protein kinase activity", "go_cellular_component": "GO:0001669 acrosomal vesicle", "go_biological_process": "GO:0006401 RNA catabolic process", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q9BXU1-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NSY2-1", "uniprot_id": [ { "id": "STAR5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NSY2", "type": "external" } ], "mass": 23794.0, "length": 213, "protein_name": "StAR-related lipid transfer protein 5", "gene_name": "STARD5", "organism": "Human", "refseq_name": "stAR-related lipid transfer protein 5", "refseq_ac": [ { "id": "NP_871629", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_871629", "type": "external" } ], "gene_names_uniprotkb": "STARD5", "gene_names_refseq": "STARD5", "protein_names_uniprotkb": "StAR-related lipid transfer protein 5; START domain-containing protein 5; StARD5", "protein_names_refseq": "START domain containing 5; START domain-containing protein 5; StAR-related lipid transfer (START) domain containing 5; stAR-related lipid transfer protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:80765); (R-HSA-159418)", "pathway_count": 2, "publication_count": 64, "publication_id_list": "10334992;10334993;10358072;10601278;10884298;10987286;11159893;11237011;11387316;11870371;11980911;12011452;12220224;12393883;12404239;12404240;12486725;12663868;12704183;12815072;13416382;14699511;15760897;16317684;16541101;16908160;17650074;2037576;20628086;21738568;23018617;23337244;24440759;25576301;25880248;25892735;26375851;26992070;27600516;27846572;28834231;28904123;29557506;29632711;29769354;29789417;30429286;30833945;31844290;32157095;32983136;33575800;33717175;34561969;34932366;35051231;35580925;36284347;37938771;7077161;7557095;7588781;8034703;8132774", "class_list": "", "function": "Genetically regulated expression underlies cellular sensitivity to chemotherapy in diverse populations., [RefSeq, PubMed]; May be involved in the intracellular transport of sterols or other lipids. May bind cholesterol or other sterols (By similarity)., [UniProtKB]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Proteins containing a steroidogenic acute regulatory-related lipid transfer (START) domain are often involved in the trafficking of lipids and cholesterol between diverse intracellular membranes. This gene is a member of the StarD subfamily that encodes START-related lipid transfer proteins. The protein encoded by this gene is a cholesterol transporter and is also able to bind and transport other sterol-derived molecules related to the cholesterol/bile acid biosynthetic pathways such as 25-hydroxycholesterol. Its expression is upregulated during endoplasmic reticulum (ER) stress. The protein is thought to act as a cytosolic sterol transporter that moves cholesterol between intracellular membranes such as from the cytoplasm to the ER and from the ER to the Golgi apparatus. Alternative splicing of this gene produces multiple transcript variants. [provided by RefSeq, Jan 2016]., [RefSeq]; StarD4 is regulated by sterols via SREBP-2, and StarD5 is activated by ER stress cholesterol metabolism; they serve different functions, [RefSeq, PubMed]; Studies show the 3 steroidogenic acute regulatory-related lipid transfer (START) domain proteins StarD4, StarD5 and StarD6 have a similar lipid binding pocket specific for sterols (cholesterol in particular), but differing regulation and localization. Review article, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "P59094", "ec_number_list": [], "go_molecular_function": "GO:0015485 cholesterol binding;GO:0032052 bile acid binding;GO:0120020 cholesterol transfer activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0015721 bile acid and bile salt transport;GO:0070508 cholesterol import", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q9NSY2-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NUC0-1", "uniprot_id": [ { "id": "SRTD4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NUC0", "type": "external" } ], "mass": 39348.0, "length": 356, "protein_name": "SERTA domain-containing protein 4", "gene_name": "SERTAD4", "organism": "Human", "refseq_name": "SERTA domain-containing protein 4 isoform 1", "refseq_ac": [ { "id": "NP_062551", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_062551", "type": "external" } ], "gene_names_uniprotkb": "SERTAD4", "gene_names_refseq": "DJ667H12.2; SERTAD4", "protein_names_uniprotkb": "SERTA domain-containing protein 4", "protein_names_refseq": "SERTA domain-containing protein 4 isoform 1; SERTA domain-containing protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:56256)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "25576301;26992070;27846572;28834231;30429286;31154438;32488085;32938616;33392160;34087483;39462261", "class_list": "", "function": "KRAS mutation promotes the colonization of Fusobacterium nucleatum in colorectal cancer by down-regulating SERTAD4., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B2RD32", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9NUC0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NY15-1", "uniprot_id": [ { "id": "STAB1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NY15", "type": "external" } ], "mass": 275482.0, "length": 2570, "protein_name": "Stabilin-1", "gene_name": "STAB1", "organism": "Human", "refseq_name": "stabilin-1 precursor", "refseq_ac": [ { "id": "NP_055951", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055951", "type": "external" } ], "gene_names_uniprotkb": "STAB1; FEEL1; KIAA0246", "gene_names_refseq": "CLEVER-1; FEEL-1; FEEL1; FELE-1; FEX1; HRFT; SCARH2; STAB-1; STAB1", "protein_names_uniprotkb": "Stabilin-1; FEEL-1; Fasciclin, EGF-like, laminin-type EGF-like and link domain-containing scavenger receptor 1; MS-1 antigen", "protein_names_refseq": "MS-1 antigen; common lymphatic endothelial and vascular endothelial receptor-1; fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1; fasciclin, EGF-like, laminin-type EGF-like and link domain-containing scavenger receptor 1; stabilin-1 precursor", "tax_id": 9606, "disease": "isolated hyperferritinemia (MONDO:MONDO:0958237)", "pathway": " (hsa:23166); (R-HSA-3000497)", "pathway_count": 2, "publication_count": 54, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11829752;12077138;12473645;12626425;15208308;15297319;15345716;15345724;15572036;16164023;16357325;16670288;17145755;17962816;18434317;18499864;19159218;19359419;19726632;21030611;21480214;23345538;25880248;26154972;26992070;27726376;27846572;27862975;29437277;29557506;29741879;30429286;31848261;32157095;32387766;32595212;32938616;32983136;33123756;33592498;33968037;34185709;34374322;34968453;35051231;35580925;36241641;36284347;37074911;37490907;37926735;37938771", "class_list": "", "function": "A form of inherited hyperferritinemia associated with bi-allelic pathogenic variants of STAB1., [RefSeq, PubMed]; Acts as a scavenger receptor for acetylated low density lipoprotein. Binds to both Gram-positive and Gram-negative bacteria and may play a role in defense against bacterial infection. When inhibited in endothelial tube formation assays, there is a marked decrease in cell-cell interactions, suggesting a role in angiogenesis. Involved in the delivery of newly synthesized CHID1/SI-CLP from the biosynthetic compartment to the endosomal/lysosomal system., [UniProtKB, PubMed, PubMed]; CLEVER-1 also known as stabilin-1 or FEEL-1) is a large multifunctional glycoprotein implicated in scavenging, angiogenesis, cell adhesion and angiogenesis, [RefSeq, PubMed]; Code for homologous transmembrane proteins featuring seven fasciclin-like adhesion domains, 18-20 epidermal-growth-factor domains, one X-link domain and three to six B-(X(7))-B hyaluronan-binding motifs, [RefSeq, PubMed]; FEEL-1, a novel scavenger receptor with in vitro bacteria-binding and angiogenesis-modulating activities., [RefSeq, PubMed]; Highly oxidized albumin is cleared by liver sinusoidal endothelial cells via the receptors stabilin-1 and -2. Publication Status: Online-Only, [RefSeq, PubMed]; New tools to prevent cancer growth and spread: a 'Clever' approach. Review article, [RefSeq, PubMed]; Stabilin-1 mediates beneficial monocyte recruitment and tolerogenic macrophage programming during CVB3-induced viral myocarditis., [RefSeq, PubMed]; Stabilin-1 plays a protective role against Listeria monocytogenes infection through the regulation of cytokine and chemokine production and immune cell recruitment., [RefSeq, PubMed]; This and FEEL-2 are endocytic receptors for advanced glycation end products., [RefSeq, PubMed]; This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 16 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to endocytose ligands such as low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein rapidly cycles between the plasma membrane and early endosomes. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 16, "predicted_n_glycosites": 14, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 15, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 13, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 15, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 15, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 124, "reported_interactions": 0, "missing_score": 8593, "biomarker_type": "", "glycan_count": 61, "disease_count": 1, "glyco_site_count": 31, "binding_glycan_count": 0, "secondary_ac_list": "A7E297;Q8IUH0;Q8IUH1;Q93072", "ec_number_list": [], "go_molecular_function": "GO:0005044 scavenger receptor activity;GO:0005509 calcium ion binding;GO:0015035 protein-disulfide reductase activity;GO:0005041 low-density lipoprotein particle receptor activity;GO:0030169 low-density lipoprotein particle binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030666 endocytic vesicle membrane;GO:0016020 membrane", "go_biological_process": "GO:0006954 inflammatory response;GO:0007155 cell adhesion;GO:0007267 cell-cell signaling;GO:0006898 receptor-mediated endocytosis;GO:0016525 negative regulation of angiogenesis", "synthesized_glycan_count": 0, "hit_score": 13.1, "record_id": "Q9NY15-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1000000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UEE5-1", "uniprot_id": [ { "id": "ST17A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UEE5", "type": "external" } ], "mass": 46558.0, "length": 414, "protein_name": "Serine/threonine-protein kinase 17A", "gene_name": "STK17A", "organism": "Human", "refseq_name": "serine/threonine-protein kinase 17A", "refseq_ac": [ { "id": "NP_004751", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004751", "type": "external" } ], "gene_names_uniprotkb": "STK17A; DRAK1", "gene_names_refseq": "DRAK1; STK17A", "protein_names_uniprotkb": "Serine/threonine-protein kinase 17A; 2.7.11.1; DAP kinase-related apoptosis-inducing protein kinase 1", "protein_names_refseq": "DAP kinase-related apoptosis-inducing protein kinase 1; death-associated protein kinase-related 1; serine/threonine kinase 17a (apoptosis-inducing); serine/threonine-protein kinase 17A", "tax_id": 9606, "disease": "", "pathway": " (hsa:9263)", "pathway_count": 1, "publication_count": 96, "publication_id_list": "14978097;15940259;17344846;18669648;19369195;19730683;20677014;21489989;21802008;22424782;22869377;23186163;23481700;23783831;24029068;24714562;24715725;25418920;25576301;25880248;25892735;26154972;26375851;26811146;26992070;27600516;27862975;27920218;28063628;28218747;28228285;28514659;28649982;28832583;28834231;28855257;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30429286;30484775;30524438;30655319;31154438;31217245;31844290;32157095;32265222;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33115937;33123756;33141586;33298915;33592498;33691108;33717175;33912179;33936100;33955523;33968037;33981976;34087483;34171305;34405274;34561969;34932366;35051231;35194034;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37938771;9786912", "class_list": "", "function": "Acts as a positive regulator of apoptosis. Also acts as a regulator of cellular reactive oxygen species., [UniProtKB, PubMed, PubMed]; Degradation of DRAK1 by CUL3/SPOP E3 Ubiquitin ligase promotes tumor growth of paclitaxel-resistant cervical cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; Destablilization of TRAF6 by DRAK1 Suppresses Tumor Growth and Metastasis in Cervical Cancer Cells., [RefSeq, PubMed]; Genome-wide association study of non-tuberculous mycobacterial pulmonary disease., [RefSeq, PubMed]; Identified STK17A as a novel direct target of p53 and a modulator of cisplatin toxicity and reactive oxygen species in testicular cancer cells., [RefSeq, PubMed]; Loss of serine threonine kinase 17A occurs in colorectal cancer metastasis, induces mesenchymal morphologies, and contributes to tumor cell invasion and migration in colorectal cancer., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Predictive significance of STK17A in patients with gastric cancer and association with gastric cancer cell proliferation and migration., [RefSeq, PubMed]; This gene is a member of the DAP kinase-related apoptosis-inducing protein kinase family and encodes an autophosphorylated nuclear protein with a protein kinase domain. The protein has apoptosis-inducing activity. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4D1V6;Q8IVC8", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0016607 nuclear speck", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0035556 intracellular signal transduction;GO:0043065 positive regulation of apoptotic process;GO:0006915 apoptotic process;GO:2000377 regulation of reactive oxygen species metabolic process", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "Q9UEE5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULQ0-1", "uniprot_id": [ { "id": "STRP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULQ0", "type": "external" } ], "mass": 95360.0, "length": 834, "protein_name": "Striatin-interacting protein 2", "gene_name": "STRIP2", "organism": "Human", "refseq_name": "striatin-interacting protein 2 isoform b", "refseq_ac": [ { "id": "NP_001127808", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127808", "type": "external" } ], "gene_names_uniprotkb": "STRIP2; FAM40B; KIAA1170", "gene_names_refseq": "FAM40B; FAR11B; STRIP2", "protein_names_uniprotkb": "Striatin-interacting protein 2; Protein FAM40B", "protein_names_refseq": "FAR11 factor arrest 11 homolog B; family with sequence similarity 40, member B; homolog of yeast FAR11 protein 2; protein FAM40B; striatin-interacting protein 2 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:57464)", "pathway_count": 1, "publication_count": 40, "publication_id_list": "18782753;21834987;23186163;23481700;25576301;25645385;26154972;26992070;28904123;29493099;29557506;30429286;30509168;30833945;31844290;31901223;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32938616;33141586;33298915;33592498;33633747;33912179;33936100;33968037;34171305;34185709;34509645;35051231;35580925;36010968;36284347;36639675;39191354", "class_list": "", "function": "Calmodulin-binding scaffolding protein which is the center of the striatin-interacting phosphatase and kinase (STRIPAK) complexes. STRIPAK complexes have critical roles in protein (de)phosphorylation and are regulators of multiple signaling pathways including Hippo, MAPK, nuclear receptor and cytoskeleton remodeling. Different types of STRIPAK complexes are involved in a variety of biological processes such as cell growth, differentiation, apoptosis, metabolism and immune regulation (PubMed:18782753). Required in the regulation of cell morphology and cytoskeletal organization (PubMed:21834987)., [UniProtKB, PubMed, PubMed]; STRIP2 is regulated by the transcription factor Sp1 and promotes lung adenocarcinoma progression via activating the PI3K/AKT/mTOR/MYC signaling pathway., [RefSeq, PubMed]; STRIP2 motivates non-small cell lung cancer progression by modulating the TMBIM6 stability through IGF2BP3 dependent. Publication Status: Online-Only, [RefSeq, PubMed]; STRIP2, a member of the striatin-interacting phosphatase and kinase complex, is implicated in lung adenocarcinoma cell growth and migration., [RefSeq, PubMed]; These results demonstrate the importance of the FAM40 proteins for endothelial cell physiology, and suggest that they act as part of the CCM3-containing STRIPAK complex. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "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": "Q8WUZ4", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0090443 FAR/SIN/STRIPAK complex", "go_biological_process": "GO:0035330 regulation of hippo signaling;GO:0007010 cytoskeleton organization;GO:0035331 negative regulation of hippo signaling", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q9ULQ0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NSD9-1", "uniprot_id": [ { "id": "SYFB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NSD9", "type": "external" } ], "mass": 66116.0, "length": 589, "protein_name": "Phenylalanine--tRNA ligase beta subunit", "gene_name": "FARSB", "organism": "Human", "refseq_name": "phenylalanine--tRNA ligase beta subunit", "refseq_ac": [ { "id": "NP_005678", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005678", "type": "external" } ], "gene_names_uniprotkb": "FARSB; FARSLB; FRSB; HSPC173", "gene_names_refseq": "FARSB; FARSLB; FRSB; HSPC173; NEDBLLA; PheHB; PheRS; RILDBC1; RILDBC; RJBS", "protein_names_uniprotkb": "Phenylalanine--tRNA ligase beta subunit; 6.1.1.20; PheRS; Phenylalanyl-tRNA synthetase beta subunit", "protein_names_refseq": "phenylalanine tRNA ligase 1, beta, cytoplasmic; phenylalanine--tRNA ligase beta subunit; phenylalanine-tRNA ligase beta chain; phenylalanine-tRNA synthetase-like, beta subunit; phenylalanyl-tRNA synthetase beta chain; phenylalanyl-tRNA synthetase beta subunit; phenylalanyl-tRNA synthetase-like, beta subunit", "tax_id": 9606, "disease": "Rajab interstitial lung disease with brain calcifications 1 (MONDO:MONDO:0100215)", "pathway": " (hsa:10056); (R-HSA-379716)", "pathway_count": 2, "publication_count": 98, "publication_id_list": "10049785;11347887;11714285;11829477;11858721;12690580;1373391;14660560;14671330;16055448;16429158;16906134;1761529;20223217;22424782;22645359;24397554;24714562;25418920;26375851;26728094;26853435;26992070;27600516;27846572;27920218;28063628;28218747;28228285;28510447;28514659;28832583;28834231;28855257;28904123;29093164;29242379;29393594;29437277;29557506;29573043;29632046;29632711;29789417;29979980;30014610;30315122;30410026;30429286;30833945;31217245;31530632;31844290;32119511;32157095;32161166;32265295;32350084;32387766;32897882;32938616;32983136;33141586;33214551;33298915;33633747;33691108;33912179;33968037;34019948;34159625;34211107;34725712;34932366;35051231;35138101;35154160;35251023;35561310;35580925;36010968;36241641;38069034;38665916;40914422;4130389;6022858;656444;7118399;7654687;8052601;8078941;8188258;8428657;8449960;9278442;9421509;9431993", "class_list": "", "function": "Contribution of upregulated aminoacyl-tRNA biosynthesis to metabolic dysregulation in gastric cancer., [RefSeq, PubMed]; FARSB Facilitates Hepatocellular Carcinoma Progression by Activating the mTORC1 Signaling Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a highly conserved enzyme that belongs to the aminoacyl-tRNA synthetase class IIc subfamily. This enzyme comprises the regulatory beta subunits that form a tetramer with two catalytic alpha subunits. In the presence of ATP, this tetramer is responsible for attaching L-phenylalanine to the terminal adenosine of the appropriate tRNA. A pseudogene located on chromosome 10 has been identified. 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": 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": "B4DFM0;O95708;Q4ZFX1;Q57ZJ5;Q9NZZ6", "ec_number_list": [ { "id": "6.1.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.20", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0004826 phenylalanine-tRNA ligase activity", "go_cellular_component": "GO:0009328 phenylalanine-tRNA ligase complex;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0051290 protein heterotetramerization;GO:0006412 translation;GO:0006432 phenylalanyl-tRNA aminoacylation", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "Q9NSD9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15916-1", "uniprot_id": [ { "id": "ZBTB6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15916", "type": "external" } ], "mass": 48236.0, "length": 424, "protein_name": "Zinc finger and BTB domain-containing protein 6", "gene_name": "ZBTB6", "organism": "Human", "refseq_name": "zinc finger and BTB domain-containing protein 6", "refseq_ac": [ { "id": "NP_006617", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006617", "type": "external" } ], "gene_names_uniprotkb": "ZBTB6; ZID; ZNF482", "gene_names_refseq": "ZBTB6; ZID; ZNF482", "protein_names_uniprotkb": "Zinc finger and BTB domain-containing protein 6; Zinc finger protein 482; Zinc finger protein with interaction domain", "protein_names_refseq": "zinc finger and BTB domain-containing protein 6; zinc finger protein 482; zinc finger protein with interaction domain", "tax_id": 9606, "disease": "", "pathway": " (hsa:10773)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "17547437;23186163;25576301;26154972;26375851;26992070;27846572;27920218;28832583;28904123;29242379;29493099;29508533;29632711;29786170;30379171;31154438;31530632;31844290;32157095;32161166;32357974;32387766;32502341;32938616;32983136;33141586;33298915;33691108;33717175;33912179;33936100;33968037;34211107;34357683;35051231;35580925;7958847", "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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K8N6", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0002682 regulation of immune system process;GO:0001817 regulation of cytokine production", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q15916-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q02880-1", "uniprot_id": [ { "id": "TOP2B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q02880", "type": "external" } ], "mass": 183267.0, "length": 1626, "protein_name": "DNA topoisomerase 2-beta", "gene_name": "TOP2B", "organism": "Human", "refseq_name": "DNA topoisomerase 2-beta isoform 2", "refseq_ac": [ { "id": "NP_001059", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001059", "type": "external" } ], "gene_names_uniprotkb": "TOP2B", "gene_names_refseq": "BILU; TOP2B; TOPIIB; top2beta", "protein_names_uniprotkb": "DNA topoisomerase 2-beta; 5.6.2.2; DNA topoisomerase II, beta isozyme", "protein_names_refseq": "DNA topoisomerase 2-beta isoform 2; DNA topoisomerase 2-beta; DNA topoisomerase II, 180 kD; DNA topoisomerase II, beta isozyme; U937 associated antigen; antigen MLAA-44; topo II beta; topoisomerase (DNA) II beta 180kDa; topoisomerase II beta; topoisomerase IIb", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162); B cell deficiency (Disease Ontology:DOID:2115); acute myeloid leukemia (Disease Ontology:DOID:9119); B-cell immunodeficiency, distal limb anomalies, and urogenital malformations (MONDO:MONDO:0012243)", "pathway": " (hsa:7155); (R-HSA-4615885)", "pathway_count": 2, "publication_count": 163, "publication_id_list": "10095062;10684600;10759568;10862613;11237011;11466336;11709553;12149243;12821127;12832072;1333583;15931174;15989970;16964243;17081983;17183683;17487921;17525332;17567603;18220336;18381449;18394993;18669648;18946085;18991276;19367720;19596686;19690332;20068231;20663916;21136679;21167178;21406692;21554500;2163884;21778401;22424782;22457066;22464730;22645359;22706990;23186163;23301498;23481700;24275569;24366607;24714562;24715725;24782567;25114211;25218447;25418920;2556712;25576301;25645385;25755297;25772364;25892735;26154972;26375851;26768311;26811146;26929215;26992070;27543614;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28343847;28514659;28649982;28832583;28834231;28904123;29242379;29314611;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30379171;30410026;30429286;30524438;30779550;30833945;31092671;31154438;31217245;31222486;31409799;31530632;31844290;31848261;31937595;31953910;31998317;32119511;32128574;32157095;32161166;32350084;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33459963;33537174;33592498;33633747;33691108;33717175;33912179;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34509645;34543352;34561969;34725712;34846842;34932366;35051231;35251023;35318648;35561310;35580925;35705054;36010968;36241641;36284347;37068767;37834253;37938771;38038260;38240344;38263255;38665916;40596516;40914422;8299728;8383537;8396237;9155056;9168988", "class_list": "", "function": "DNA-PKcs-mediated transcriptional regulation of TOP2B drives chemoresistance in acute myeloid leukemia., [RefSeq, PubMed]; Key decatenating enzyme that alters DNA topology by binding to two double-stranded DNA molecules, generating a double-stranded break in one of the strands, passing the intact strand through the broken strand, and religating the broken strand., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; MDM2 provides TOP2 poison resistance by promoting proteolysis of TOP2betacc in a p53-independent manner. Erratum:[Cell Death Dis. 2024 May 7;15(5):320. doi: 10.1038/s41419-024-06634-5. PMID: 38714647] Publication Status: Online-Only, [RefSeq, PubMed]; Revisiting TOP2B-related phenotypes: Three new cases and literature review. Review article, [RefSeq, PubMed]; This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, beta, is localized to chromosome 3 and the alpha form is localized to chromosome 17. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]., [RefSeq]; To Break or Not to Break: The Role of TOP2B in Transcription. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Using energy to go downhill-a genoprotective role for ATPase activity in DNA topoisomerase II. Erratum:[Nucleic Acids Res. 2024 Feb 9;52(3):1525. doi: 10.1093/nar/gkad1255. PMID: 38153185], [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": 33, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 27, "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": "Q13600;Q9UMG8;Q9UQP8", "ec_number_list": [ { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "5.6.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.2", "type": "external" } ], "go_molecular_function": "GO:0003918 DNA topoisomerase type II (double strand cut, ATP-hydrolyzing) activity;GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0005524 ATP binding;GO:0043021 ribonucleoprotein complex binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005829 cytosol;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0000712 resolution of meiotic recombination intermediates;GO:2001034 positive regulation of double-strand break repair via nonhomologous end joining;GO:0070301 cellular response to hydrogen peroxide;GO:0030183 B cell differentiation;GO:0090398 cellular senescence", "synthesized_glycan_count": 0, "hit_score": 16.8, "record_id": "Q02880-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75486-1", "uniprot_id": [ { "id": "SUPT3_HUMAN", "url": "https://www.uniprot.org/uniprot/O75486", "type": "external" } ], "mass": 35793.0, "length": 317, "protein_name": "Transcription initiation protein SPT3 homolog", "gene_name": "SUPT3H", "organism": "Human", "refseq_name": "transcription initiation protein SPT3 homolog isoform 1", "refseq_ac": [ { "id": "NP_003590", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003590", "type": "external" } ], "gene_names_uniprotkb": "SUPT3H; SPT3", "gene_names_refseq": "SPT3L; SPT3; SUPT3H", "protein_names_uniprotkb": "Transcription initiation protein SPT3 homolog; SPT3-like protein", "protein_names_refseq": "SPT3-like protein; suppressor of Ty 3 homolog; transcription initiation protein SPT3 homolog isoform 1; transcription initiation protein SPT3 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:8464); (R-HSA-3214847)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "10373431;10786633;10821277;11237011;11564863;15313887;16387653;18206972;18381289;18623064;19187765;20018852;25218447;25576301;25860292;25934476;26992070;27600516;28832583;28834231;28904123;29242379;29632711;30010910;31844290;32157095;32357974;32938616;32983136;33592498;33691108;33968037;33981976;34087483;35051231;35318648;35580925;36241641;9427644;9558366;9674425;9726987;9787080;9880483;9885574", "class_list": "", "function": "Here, genotype at an Osteoarthritis (OA) risk locus correlates with differential DNA methylation, with altered gene expression of both a transcriptional regulator (RUNX2), and a chromatin remodelling protein (SUPT3H)., [RefSeq, PubMed]; Probable transcriptional activator., [UniProtKB, PubMed]; Significance of the formation PVT1- SUPT3H chimeric gene remains unknown and the overexpression of MYC by ectopic promoter on chromosome 6 may be essential to tumor genesis. Publication Status: Online-Only, [RefSeq, PubMed]; We identified rs41314453 as the main genetic determinant of ADAMTS13 activity, and we present preliminary findings for further associations at the ADAMTS13 and SUPT3H loci., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A6NKG9;B2R9Q5;O76066;Q5TAV9;Q86VN7", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0033276 transcription factor TFTC complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000124 SAGA complex", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription;GO:0006366 transcription by RNA polymerase II;GO:0043484 regulation of RNA splicing", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "O75486-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q53R12-1", "uniprot_id": [ { "id": "T4S20_HUMAN", "url": "https://www.uniprot.org/uniprot/Q53R12", "type": "external" } ], "mass": 25075.0, "length": 229, "protein_name": "Transmembrane 4 L6 family member 20", "gene_name": "TM4SF20", "organism": "Human", "refseq_name": "transmembrane 4 L6 family member 20", "refseq_ac": [ { "id": "NP_079071", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079071", "type": "external" } ], "gene_names_uniprotkb": "TM4SF20; PRO994", "gene_names_refseq": "PRO994; SLI5; TCCE518; TM4SF20", "protein_names_uniprotkb": "Transmembrane 4 L6 family member 20", "protein_names_refseq": "transmembrane 4 L6 family member 20", "tax_id": 9606, "disease": "specific language impairment (Disease Ontology:DOID:0060244)", "pathway": " (hsa:79853)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;12975309;20479760;23810381;25310401;27499293;27893789;30484775;30808712;35051231;39894887", "class_list": "", "function": "Ceramide inverts the membrane orientation of TMS4SF20, creating a form of TM4SF20 that stimulates the cleavage of CREB3L1. GeneRIF: TM4SF20 is the first protein shown to undergo Regulated Alternative Translocation in response to ceramide. In the absence of ceramide, the N terminus of the first transmembrane helix of TM4SF20 is inserted into the ER lumen. This form blocks activation of CREB3L1, a membrane-bound transcription factor. In the presence of ceramide, the membrane topology of TM4SF20 is inverted. The inverted form stimulates CREB3L1 cleavage., [RefSeq, PubMed]; Identification of residues critical for topology inversion of the transmembrane protein TM4SF20 through regulated alternative translocation., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Polytopic transmembrane protein that inhibits regulated intramembrane proteolysis (RIP) of CREB3L1, inhibiting its activation and the induction of collagen synthesis (PubMed:25310401, PubMed:27499293). In response to ceramide, which alters TM4SF20 membrane topology, stimulates RIP activation of CREB3L1 (PubMed:27499293). Ceramide reverses the direction through which transmembrane helices are translocated into the endoplasmic reticulum membrane during translation of TM4SF20, this mechanism is called 'regulated alternative translocation' (RAT) and regulates the function of the transmembrane protein (PubMed:27499293)., [UniProtKB, PubMed, PubMed]; TM4SF20 ancestral deletion predisposes carriers to a pediatric disorder of early language delay and cerebral white matter hyperintensities. Erratum:[Am J Hum Genet. 2013 Aug 8;93(2):405], [RefSeq, PubMed]; The protein encoded by this gene is a member of the four-transmembrane L6 superfamily. Members of this family function in various cellular processes including cell proliferation, motility, and adhesion via their interactions with integrins. In human brain tissue, this gene is expressed at high levels in the parietal lobe, occipital lobe, hippocampus, pons, white matter, corpus callosum, and cerebellum. Knockout of the homologous gene in mouse results in a neurobehavioral phenotype with suggested enhanced motor coordination. A deletion mutation in the human gene is associated with specific language impairment-5. [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": 0, "reported_mutagensis": 11, "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": "B2RP42;Q5U609;Q6UWS1;Q9H5X9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0045861 negative regulation of proteolysis", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q53R12-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3MII6-1", "uniprot_id": [ { "id": "TBC25_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3MII6", "type": "external" } ], "mass": 76327.0, "length": 688, "protein_name": "TBC1 domain family member 25", "gene_name": "TBC1D25", "organism": "Human", "refseq_name": "TBC1 domain family member 25 isoform a", "refseq_ac": [ { "id": "NP_001335191", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001335191", "type": "external" } ], "gene_names_uniprotkb": "TBC1D25; OATL1", "gene_names_refseq": "MG81; OATL1; TBC1D25", "protein_names_uniprotkb": "TBC1 domain family member 25", "protein_names_refseq": "5SN3 snoRNA; TBC1 domain family member 25 isoform a; ornithine aminotransferase-like 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:4943); (R-HSA-8854214)", "pathway_count": 2, "publication_count": 54, "publication_id_list": "10202141;11237011;16055087;16395330;17558447;17658474;17901050;18199687;18319245;18466115;18669648;18767875;19651622;19664994;20058876;20068231;20095038;20116244;20363736;20404108;21383079;21458671;22219378;22613832;22762500;22795129;22854040;23019362;23186163;23562278;24275569;24715725;26992070;27374232;27846572;28467828;28657654;28904123;29242379;30379171;30429286;31844290;32157095;32938616;32983136;33298915;33353759;33717175;33936100;34087483;34171305;34357683;34561969;35051231", "class_list": "", "function": "Acts as a GTPase-activating protein specific for RAB33B. Involved in the regulation of autophagosome maturation, the process in which autophagosomes fuse with endosomes and lysosomes., [UniProtKB, PubMed]; Our study showed that adenovirus-mediated antisense ODC and expression inhibits tumor cell growth through blocking the polyamine synthesis pathway., [RefSeq, PubMed]; Rab33b, OATL1 and Myo6 have roles in nanoparticle trafficking in HeLa cells Publication Status: Online-Only, [RefSeq, PubMed]; RabGAP TBC1D25 is involved in human osteoclast activity., [RefSeq, PubMed]; This gene encodes a protein with a TBC domain and functions as a Rab GTPase activating protein. The encoded protein is involved in the fusion of autophagosomes with endosomes and lysosomes. This gene was previously known as ornithine aminotransferase-like 1, but has no similarity to ornithine aminotransferase. [provided by RefSeq, Jan 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 2, "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": "Q08AN9;Q3MII4;Q8TAR9", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0031410 cytoplasmic vesicle;GO:0005776 autophagosome", "go_biological_process": "GO:0006914 autophagy;GO:1901096 regulation of autophagosome maturation", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q3MII6-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UL49-3", "uniprot_id": [ { "id": "TCFL5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UL49", "type": "external" } ], "mass": 52697.0, "length": 500, "protein_name": "Transcription factor-like 5 protein", "gene_name": "TCFL5", "organism": "Human", "refseq_name": "transcription factor-like 5 protein isoform 1", "refseq_ac": [ { "id": "NP_006593", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006593", "type": "external" } ], "gene_names_uniprotkb": "TCFL5; CHA; E2BP1", "gene_names_refseq": "CHA; E2BP-1; Figlb; SOSF1; TCFL5; bHLHe82", "protein_names_uniprotkb": "Transcription factor-like 5 protein; Cha transcription factor; E2BP-1; HPV-16 E2-binding protein 1", "protein_names_refseq": "HPV-16 E2-binding protein 1; cha transcription factor; spermatogenesis- and oogenesis-specific bHLH-containing protein 1; transcription factor-like 5 (basic helix-loop-helix); transcription factor-like 5 protein isoform 1; transcription factor-like 5 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:10732)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11306602;12923186;24588599;29242379;30067948;31530632;32387766;34623757;37516394;9763657", "class_list": "", "function": "Cha is a new bHLH transcription factor that negatively regulates upstream transcription factor-dependent transcription, [RefSeq, PubMed]; HPVs16 and 18 commonly are present in normal oral mucosa and emphasize the importance of distinguishing clinical, [RefSeq, PubMed]; Isoform-specific effects of transcription factor TCFL5 on the pluripotency-related genes SOX2 and KLF4 in colorectal cancer development., [RefSeq, PubMed]; Putative transcription factor. Isoform 3 may play a role in early spermatogenesis., [UniProtKB, PubMed]; Report differential expression of TCFL5 in normal human spermatogenesis, testicular mixed germ cell-sex cord stromal tumor, spermatocytic tumor, and seminoma., [RefSeq, PubMed]; TCFL5 knockdown sensitizes DLBCL to doxorubicin treatment via regulation of GPX4., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "O94771;Q9BYW0", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;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_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0001673 male germ cell nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0042127 regulation of cell population proliferation;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q9UL49-3", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UJ78-4", "uniprot_id": [ { "id": "ZMYM5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UJ78", "type": "external" } ], "mass": 74817.0, "length": 669, "protein_name": "Zinc finger MYM-type protein 5", "gene_name": "ZMYM5", "organism": "Human", "refseq_name": "zinc finger MYM-type protein 5 isoform 2", "refseq_ac": [ { "id": "NP_001034738", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034738", "type": "external" } ], "gene_names_uniprotkb": "ZMYM5; HSPC050; ZNF198L1; ZNF237", "gene_names_refseq": "HSPC050; MYM; ZMYM5; ZNF198L1; ZNF237", "protein_names_uniprotkb": "Zinc finger MYM-type protein 5; Zinc finger protein 198-like 1; Zinc finger protein 237", "protein_names_refseq": "zinc finger MYM-type protein 5 isoform 2; zinc finger protein 198-like 1; zinc finger protein 237; zinc finger, MYM-type 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:9205)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "10894931;17126306;25218447;25576301;26992070;27862975;28904123;29493099;29557506;30379171;31092671;31844290;32157095;32357974;32387766;32938616;33298915;33912179;33968037;33981976;34171305;34405274;34509645;35051231;36010968", "class_list": "", "function": "Functions as a transcriptional regulator., [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": 4, "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": "B2R6V1;Q5T6E1;Q5T6E2;Q5T6E4;Q96IY6;Q9NZY5;Q9UBW0;Q9UJ77", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q9UJ78-4", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULZ0-2", "uniprot_id": [ { "id": "T53G3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULZ0", "type": "external" } ], "mass": 12828.0, "length": 124, "protein_name": "TP53-target gene 3 protein", "gene_name": "TP53TG3B; TP53TG3C; TP53TG3D; TP53TG3E; TP53TG3F; TP53TG3", "organism": "Human", "refseq_name": "TP53-target gene 3 protein", "refseq_ac": [ { "id": "NP_001093157", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093157", "type": "external" } ], "gene_names_uniprotkb": "TP53TG3B; TP53TG3C; TP53TG3D; TP53TG3E; TP53TG3F; TP53TG3; TP53TG3A", "gene_names_refseq": "TP53TG3B", "protein_names_uniprotkb": "TP53-target gene 3 protein; TP53-inducible gene 3 protein", "protein_names_refseq": "TP53-inducible gene 3 protein; TP53-target gene 3 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:102724101); (hsa:102724127); (hsa:24150); (hsa:653550); (hsa:729264); (hsa:729355)", "pathway_count": 6, "publication_count": 1, "publication_id_list": "10534768", "class_list": "", "function": "May play a significant role in p53/TP53-mediating signaling pathway., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B2R5K6;Q4KN31;Q9ULY9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q9ULZ0-2", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6SJ96-1", "uniprot_id": [ { "id": "TBPL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6SJ96", "type": "external" } ], "mass": 38035.0, "length": 343, "protein_name": "TATA box-binding protein-like 2", "gene_name": "TBPL2", "organism": "Human", "refseq_name": "TATA box-binding protein-like 2", "refseq_ac": [ { "id": "NP_950248", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_950248", "type": "external" } ], "gene_names_uniprotkb": "TBPL2; TBP2; TRF3", "gene_names_refseq": "TBP2; TBPL2; TRF3", "protein_names_uniprotkb": "TATA box-binding protein-like 2; TATA box-binding protein-related factor 3; TBP-like 2; TBP-related factor 3", "protein_names_refseq": "TATA box-binding protein-like 2; TATA box-binding protein-like protein 2; TATA box-binding protein-related factor 3; TBP-like 2; TBP-like protein 2; TBP-related factor 3", "tax_id": 9606, "disease": "neurodegenerative disease (Disease Ontology:DOID:1289)", "pathway": " (hsa:387332); (R-HSA-9754189)", "pathway_count": 2, "publication_count": 19, "publication_id_list": "11237011;14634207;15110706;17068183;17570761;17704303;18042803;18550259;18729794;21245162;25693565;25921273;25936800;27642674;29234012;32448362;33541821;33966269;9417125", "class_list": "", "function": "A homozygous missense mutation in TBPL2 is associated with oocyte maturation arrest and degeneration., [RefSeq, PubMed]; A recurrent mutation in TBPL2 causes diminished ovarian reserve and female infertility., [RefSeq, PubMed]; Here we report that differentiation of myoblast to myotubes involves the disruption of the canonical holo-TFIID and replacement by a novel TRF3/TAF3 (TBP-related factor 3/TATA-binding protein-associated factor 3) complex., [RefSeq, PubMed]; Study indicates that the TBP2 gene is not responsible for idiopathic primary ovarian insufficiency in the Chinese Han population, [RefSeq, PubMed]; TATA box-binding protein-related factor 3 drives the mesendoderm specification of human embryonic stem cells by globally interacting with the TATA box of key mesendodermal genes. Publication Status: Online-Only, [RefSeq, PubMed]; TRF3 is a nuclear protein that is present in all human and mouse tissues and cell lines examined, [RefSeq, PubMed]; Transcription factor required in complex with TAF3 for the differentiation of myoblasts into myocytes. The complex replaces TFIID at specific promoters at an early stage in the differentiation process (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": 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": "Q17RU8", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0016251 RNA polymerase II general transcription initiation factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006352 DNA-templated transcription initiation", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q6SJ96-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6A9-1", "uniprot_id": [ { "id": "SPCS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6A9", "type": "external" } ], "mass": 18298.0, "length": 169, "protein_name": "Signal peptidase complex subunit 1", "gene_name": "SPCS1", "organism": "Human", "refseq_name": "signal peptidase complex subunit 1", "refseq_ac": [ { "id": "NP_054760", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054760", "type": "external" } ], "gene_names_uniprotkb": "SPCS1; HSPC033; SPC12", "gene_names_refseq": "HSPC033; SPC12; SPC1; SPCS1; YJR010C-A", "protein_names_uniprotkb": "Signal peptidase complex subunit 1; Microsomal signal peptidase 12 kDa subunit; SPase 12 kDa subunit", "protein_names_refseq": "SPase 12 kDa subunit; microsomal signal peptidase 12 kDa subunit; signal peptidase 12kDa; signal peptidase complex 12 kDa subunit; signal peptidase complex subunit 1 homolog; signal peptidase complex subunit 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:28972); (R-HSA-1799339); (R-HSA-381771); (R-HSA-400511); (R-HSA-422085); (R-HSA-9768727); (R-HSA-9828806); (R-HSA-9918432)", "pathway_count": 8, "publication_count": 106, "publication_id_list": "10228156;10366038;10604470;11089560;11237011;11564718;11600536;11756331;11964406;11978683;12050285;12354137;12414809;12540594;12553549;12651102;12810581;12853463;14599721;14719035;14719797;1499644;15126524;15126574;15142980;15256494;15584901;15604212;15619630;16171404;16219666;16469117;16728727;17065399;17261850;17289852;17595255;17681422;18166647;18202141;18396350;18443287;18455985;18491227;18519800;18593849;19001044;19280057;19327128;19628676;20444697;22375065;22869377;23481700;24009510;24023390;24681004;24886551;24966173;25802875;25892735;26208004;26375851;26416966;27255086;27383988;28228593;28510447;28512129;2890159;29557506;29593046;30828317;31154438;32157095;32350084;32357974;32502341;32938616;32983136;33141586;33717175;33981976;34171305;34185709;34388369;35051231;35130329;35215835;35318648;35561310;35580925;36010968;36241641;36284347;37938771;3841689;38793607;3900195;7883856;7982500;8100523;8428636;8632014;8798518;9631292", "class_list": "", "function": "(Microbial infection) Required for the post-translational processing of proteins involved in virion assembly and secretion from flaviviruses such as West Nile virus (WNV), Japanese encephalitis virus (JEV), Dengue virus type 2 (DENV-2), Yellow Fever virus (YFV), Zika virus (ZIKV) and hepatitis C virus (HCV) (PubMed:24009510, PubMed:27383988, PubMed:29593046). Plays a key role in the post-translational processing of flaviviral structural proteins prM, E, and NS1 (PubMed:27383988, PubMed:29593046). In HCV, it is involved in virion assembly where it promotes the interaction between HCV virus proteins NS2 and E2 (PubMed:24009510)., [UniProtKB, PubMed, PubMed, PubMed]; Cis-acting regulatory polymorphisms acting on GNL3 and SPCS1 contribute to the OA association signal at chromosome 3p21, and these genes therefore merit further investigation. Publication Status: Online-Only, [RefSeq, PubMed]; Component of the signal peptidase complex (SPC) which catalyzes the cleavage of N-terminal signal sequences from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum (PubMed:34388369). Dispensable for SPC enzymatic activity (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; SPCS1 plays a key role in the formation of the membrane-associated NS2-E2 complex via its interaction with NS2 and E2, which leads to a coordinating interaction between the structural and non-structural proteins, [RefSeq, PubMed]; SPCS1-Dependent E2-p7 processing determines HCV Assembly efficiency. Publication Status: Online-Only, [RefSeq, PubMed]; The results demonstrate that SPCS1 affects viral replication by interacting with NS2B, thereby influencing the posttranslational processing of Japanese Encephalitis Virus proteins and the assembly of virions. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KNF8;Q9BVW1;X6R2S6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane;GO:0005787 signal peptidase complex", "go_biological_process": "GO:0019082 viral protein processing;GO:0006508 proteolysis;GO:0019068 virion assembly;GO:0045047 protein targeting to ER;GO:0006465 signal peptide processing", "synthesized_glycan_count": 0, "hit_score": 10.9, "record_id": "Q9Y6A9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q04837-1", "uniprot_id": [ { "id": "SSBP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q04837", "type": "external" } ], "mass": 17260.0, "length": 148, "protein_name": "Single-stranded DNA-binding protein, mitochondrial", "gene_name": "SSBP1", "organism": "Human", "refseq_name": "single-stranded DNA-binding protein, mitochondrial isoform 1 precursor", "refseq_ac": [ { "id": "NP_001243439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243439", "type": "external" } ], "gene_names_uniprotkb": "SSBP1; SSBP", "gene_names_refseq": "Mt-SSB; OPA13; SOSS-B1; SSBP1; SSBP; mtSSB", "protein_names_uniprotkb": "Single-stranded DNA-binding protein, mitochondrial; Mt-SSB; MtSSB; PWP1-interacting protein 17", "protein_names_refseq": "PWP1-interacting protein 17; single-stranded DNA binding protein 1, mitochondrial; single-stranded DNA-binding protein, mitochondrial isoform 1 precursor; single-stranded DNA-binding protein, mitochondrial", "tax_id": 9606, "disease": "optic atrophy (Disease Ontology:DOID:5723); optic atrophy 13 with retinal and foveal abnormalities (MONDO:MONDO:0008135)", "pathway": " (hsa:6742); (R-HSA-2151201); (R-HSA-9837999); (R-HSA-9913635)", "pathway_count": 4, "publication_count": 157, "publication_id_list": "10412986;10497183;10608893;10643692;10677218;10713165;11237011;11340167;11809803;11923310;12198491;12374852;12563009;12745923;12975372;14623864;15167897;15522782;15684387;15870080;16079181;16079853;16115876;16428295;16497976;16788062;16890199;16908542;16911507;17031457;17101804;17297443;17437997;17525332;17579211;17715127;17923681;18063578;18187503;18215119;18343819;18680753;18685103;19001277;19356719;19417006;19608861;19837034;19841671;19892738;19951946;20068231;20445207;21953457;22121020;22262461;22383523;22710082;23186163;23201127;23290262;23931759;24315374;24366607;24520911;25550423;25635099;25880248;26253742;26446790;26504172;26811146;26923599;27220468;27226550;27496948;27642048;28377575;28396416;28904123;29242379;29290614;29301859;29557506;29932645;30102370;30120231;30247721;30256971;30429286;30605451;30949702;31222486;31298765;31327635;31530632;31550237;31550240;31611695;31695197;31844290;31848261;32157095;32265295;32350084;32387766;32488085;32502341;32938616;32983136;33257573;33392160;33592498;33691108;33847964;33912179;33968037;34087483;34171305;34357683;34548540;34561969;34704252;34905022;34943861;35008409;35240818;35251023;35526384;35561310;35580925;35819194;35870450;35947649;36180956;36215666;36240223;36284347;36528058;36629048;36744436;37013609;37592734;37938771;39395807;40596516;41398051;7623837;7629110;7799916;7865457;8108407;8333869;8482537;9033597;9178750;9286700", "class_list": "", "function": "Binds preferentially and cooperatively to pyrimidine rich single-stranded DNA (ss-DNA) (PubMed:21953457, PubMed:23290262, PubMed:31550240). In vitro, required to maintain the copy number of mitochondrial DNA (mtDNA) and plays a crucial role during mtDNA replication by stimulating the activity of the replisome components POLG and TWNK at the replication fork (PubMed:12975372, PubMed:15167897, PubMed:21953457, PubMed:26446790, PubMed:31550240). Promotes the activity of the gamma complex polymerase POLG, largely by organizing the template DNA and eliminating secondary structures to favor ss-DNA conformations that facilitate POLG activity (PubMed:21953457, PubMed:26446790, PubMed:31550240). In addition it is able to promote the 5'-3' unwinding activity of the mtDNA helicase TWNK (PubMed:12975372). May also function in mtDNA repair (PubMed:23290262)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Binds preferentially and cooperatively to pyrimidine rich single-stranded DNA (ss-DNA). In vitro, required to maintain the copy number of mitochondrial DNA (mtDNA) and plays a crucial role during mtDNA replication by stimulating the activity of the replisome components POLG and TWNK at the replication fork. Promotes the activity of the gamma complex polymerase POLG, largely by organizing the template DNA and eliminating secondary structures to favor ss-DNA conformations that facilitate POLG activity. In addition it is able to promote the 5'-3' unwinding activity of the mtDNA helicase TWNK. May also function in mtDNA repair., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Characterization of SSBP1-related optic atrophy and foveopathy. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of SSBP1 as a ferroptosis-related biomarker of glioblastoma based on a novel mitochondria-related gene risk model and in vitro experiments. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of SSBP1 as a prognostic marker in human lung adenocarcinoma using bioinformatics approaches., [RefSeq, PubMed]; SSBP1 is a housekeeping gene involved in mitochondrial biogenesis (Tiranti et al., 1995 [PubMed 7789991]). It is also a subunit of a single-stranded DNA (ssDNA)-binding complex involved in the maintenance of genome stability (Huang et al., 2009) [PubMed 19683501].[supplied by OMIM, Feb 2010]., [RefSeq]; SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 5, "reported_glycation": 0, "reported_snv": 5, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003723 RNA binding;GO:0008047 enzyme activator activity;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0042645 mitochondrial nucleoid;GO:0070062 extracellular exosome", "go_biological_process": "GO:0090297 positive regulation of mitochondrial DNA replication;GO:0051289 protein homotetramerization;GO:0006260 DNA replication;GO:0051096 positive regulation of helicase activity;GO:0006264 mitochondrial DNA replication", "synthesized_glycan_count": 0, "hit_score": 16.1, "record_id": "Q04837-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H169-1", "uniprot_id": [ { "id": "STMN4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H169", "type": "external" } ], "mass": 22071.0, "length": 189, "protein_name": "Stathmin-4", "gene_name": "STMN4", "organism": "Human", "refseq_name": "stathmin-4 isoform 2", "refseq_ac": [ { "id": "NP_001269982", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269982", "type": "external" } ], "gene_names_uniprotkb": "STMN4", "gene_names_refseq": "RB3; STMN4", "protein_names_uniprotkb": "Stathmin-4; RB3; Stathmin-like protein B3", "protein_names_refseq": "stathmin-4 isoform 2; stathmin-like 4; stathmin-like protein B3; stathmin-like-protein RB3", "tax_id": 9606, "disease": "", "pathway": " (hsa:81551)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11230166;11237011;28832583;29242379;29557506;31530632;31844290;33633747", "class_list": "", "function": "Exhibits microtubule-destabilizing 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": 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": "B7Z2Z7;B7Z4I9;D3DSS8;D3DSS9;G5EA16;Q2TAB9", "ec_number_list": [], "go_molecular_function": "GO:0015631 tubulin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0030426 growth cone;GO:0043005 neuron projection", "go_biological_process": "GO:0031110 regulation of microtubule polymerization or depolymerization;GO:0031175 neuron projection development;GO:0007019 microtubule depolymerization", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q9H169-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T5C0-1", "uniprot_id": [ { "id": "STXB5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T5C0", "type": "external" } ], "mass": 127573.0, "length": 1151, "protein_name": "Syntaxin-binding protein 5", "gene_name": "STXBP5", "organism": "Human", "refseq_name": "syntaxin-binding protein 5 isoform b", "refseq_ac": [ { "id": "NP_001121187", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121187", "type": "external" } ], "gene_names_uniprotkb": "STXBP5; LLGL3", "gene_names_refseq": "LGL3; LLGL3; Nbla04300; STXBP5", "protein_names_uniprotkb": "Syntaxin-binding protein 5; Lethal(2) giant larvae protein homolog 3; Tomosyn-1", "protein_names_refseq": "lethal(2) giant larvae protein homolog 3; putative protein product of Nbla04300; syntaxin-binding protein 5 isoform b; tomosyn-1; tomosyn", "tax_id": 9606, "disease": "", "pathway": " (hsa:134957)", "pathway_count": 1, "publication_count": 51, "publication_id_list": "10066450;11237011;17081983;18088087;18669648;23186163;24275569;25505266;25880248;26992070;27846572;28904123;29493099;29557506;29972863;30429286;31201948;31212131;31844290;32157095;32350084;32357974;32387766;32488085;32851733;32897882;32938616;33141586;33298915;33392160;33592498;33912179;33965377;33968037;34087483;34171305;34185709;34357683;34405274;34509645;34932366;35051231;35318648;35561310;35580925;36010968;36241641;36284347;37938771;38665916;9620695", "class_list": "", "function": "A haplotype containing the STXBP5 Asn436Ser (rs1039084) mutation is associated with type 1 von Willebrand disease in a Swedish population., [RefSeq, PubMed]; Aberrant hypermethylation induced downregulation of antisense lncRNA STXBP5-AS1 and its sense gene STXBP5 correlate with tumorigenesis of glioma., [RefSeq, PubMed]; Characterization of a related rat gene, [RefSeq, PubMed]; Characterization of a related rat protein, [RefSeq, PubMed]; Genetic evidence for an inhibitory role of tomosyn in insulin-stimulated GLUT4 exocytosis., [RefSeq, PubMed]; Interaction networks of Weibel-Palade body regulators syntaxin-3 and syntaxin binding protein 5 in endothelial cells., [RefSeq, PubMed]; Plays a regulatory role in calcium-dependent exocytosis and neurotransmitter release. Inhibits membrane fusion between transport vesicles and the plasma membrane. May modulate the assembly of trans-SNARE complexes between transport vesicles and the plasma membrane. Inhibits translocation of GLUT4 from intracellular vesicles to the plasma membrane. Competes with STXBP1 for STX1 binding (By similarity)., [UniProtKB]; STXBP5-AS1 might function as a ceRNA to drive CC cells proliferation and invasion via regulating miR-96-5p/PTEN axis., [RefSeq, PubMed]; Syntaxin 1 is a component of the 7S and 20S SNARE complexes which are involved in docking and fusion of synaptic vesicles with the presynaptic plasma membrane. This gene encodes a syntaxin 1 binding protein. In rat, a similar protein dissociates syntaxin 1 from the Munc18/n-Sec1/rbSec1 complex to form a 10S complex, an intermediate which can be converted to the 7S SNARE complex. Thus this protein is thought to be involved in neurotransmitter release by stimulating SNARE complex formation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "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": "Q14DF3;Q5T5C1;Q5T5C2;Q8NBG8;Q96NG9", "ec_number_list": [], "go_molecular_function": "GO:0045159 myosin II binding;GO:0005096 GTPase activator activity;GO:0019905 syntaxin binding;GO:0017075 syntaxin-1 binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005892 acetylcholine-gated channel complex;GO:0008021 synaptic vesicle", "go_biological_process": "GO:0015031 protein transport;GO:0006887 exocytosis;GO:0010807 regulation of synaptic vesicle priming;GO:0006893 Golgi to plasma membrane transport;GO:0045921 positive regulation of exocytosis", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q5T5C0-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IVW8-1", "uniprot_id": [ { "id": "SPNS2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IVW8", "type": "external" } ], "mass": 58044.0, "length": 549, "protein_name": "Sphingosine-1-phosphate transporter SPNS2", "gene_name": "SPNS2", "organism": "Human", "refseq_name": "sphingosine-1-phosphate transporter SPNS2", "refseq_ac": [ { "id": "NP_001118230", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001118230", "type": "external" } ], "gene_names_uniprotkb": "SPNS2", "gene_names_refseq": "DFNB115; SLC62A2; SLC63A2; SPNS2", "protein_names_uniprotkb": "Sphingosine-1-phosphate transporter SPNS2; Protein spinster homolog 2", "protein_names_refseq": "SPNS sphingolipid transporter 2; protein spinster homolog 2; solute carrier family 63 member 2; sphingosine-1-phosphate transporter SPNS2", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness 115 (Disease Ontology:DOID:0111643); neuronal ceroid lipofuscinosis (Disease Ontology:DOID:14503); sphingolipidosis (Disease Ontology:DOID:1927)", "pathway": " (hsa:124976); (R-HSA-1660661)", "pathway_count": 2, "publication_count": 72, "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;19005213;19074308;19233134;19416851;19506037;20061445;20110355;20182505;21084291;21620961;22517924;22970244;23180825;23602659;23754960;24569996;24715725;24782409;25330231;25788259;28575652;29557506;29563527;30484775;30973865;31848261;31895563;33912179;34671931;35051231;35409383;35614326;36010968;36902339;36907437;37217939;37224812;37358015;37390971;37728571;4339164;4817756;9188692;9312549;9363775", "class_list": "", "function": "Enhancing Spns2/S1P in macrophages alleviates hyperinflammation and prevents immunosuppression in sepsis., [RefSeq, PubMed]; Iron Deficiency Increases Phosphorylation of SP1 to Upregulate SPNS2 Expression in Hepatocellular Carcinoma., [RefSeq, PubMed]; Lipid transporter that specifically mediates export of sphingosine-1-phosphate (sphing-4-enine 1-phosphate, S1P) and sphinganine-1-phosphate in the lymph, thereby playing a role in lymphocyte trafficking (PubMed:19074308, PubMed:21084291, PubMed:23180825). S1P is a bioactive signaling molecule that regulates many physiological processes important for the development and for the immune system (PubMed:19074308, PubMed:23180825). Regulates levels of S1P and the S1P gradient that exists between the high circulating concentrations of S1P and low tissue levels that control lymphocyte trafficking (PubMed:19074308, PubMed:23180825). Required for the egress of T-cells from lymph nodes during an immune response by mediating S1P secretion, which generates a gradient that enables activated T-cells to access lymph (By similarity). Also required for the egress of immature B-cells from the bone marrow (By similarity). In contrast, not involved in S1P release from red blood cells (By similarity). Involved in auditory function (PubMed:30973865). S1P release in the inner ear is required for maintenance of the endocochlear potential in the cochlea (By similarity). In addition to export, also able to mediate S1P import (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Long non-coding RNA HOXA-AS3 facilitates the malignancy in colorectal cancer by miR-4319/SPNS2 axis., [RefSeq, PubMed]; Spinster homolog 2 reduces malignancies of glioblastoma via PTEN/PI3K/AKT pathway., [RefSeq, PubMed]; Spns2 is an S1P transporter in vivo that plays a role in regulation not only of blood S1P but also lymph node and lymph S1P levels and consequently influences lymphocyte trafficking and lymphatic vessel network organization., [RefSeq, PubMed]; Spns2 plays key roles in regulating the cellular functions in non-small cell lung cancer (NSCLC) cells Publication Status: Online-Only, [RefSeq, PubMed]; Structural and functional insights into Spns2-mediated transport of sphingosine-1-phosphate., [RefSeq, PubMed]; The protein encoded by this gene is a transporter of sphingosine 1-phosphate, a secreted lipid that is important in cardiovascular, immunological, and neural development. Defects in this gene are a cause of early onset progressive hearing loss. [provided by RefSeq, Jul 2016]., [RefSeq]; The sphingosine 1-phosphate transporter, SPNS2, functions as a transporter of the phosphorylated form of the immunomodulating agent FTY720., [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": 1, "reported_glycation": 0, "reported_snv": 17, "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": "B9A1T3", "ec_number_list": [], "go_molecular_function": "GO:0022857 transmembrane transporter activity;GO:0046624 sphingolipid transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0010008 endosome membrane", "go_biological_process": "GO:0003376 sphingosine-1-phosphate receptor signaling pathway;GO:0006869 lipid transport;GO:0030148 sphingolipid biosynthetic process;GO:0007605 sensory perception of sound;GO:2000404 regulation of T cell migration", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q8IVW8-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60602-1", "uniprot_id": [ { "id": "TLR5_HUMAN", "url": "https://www.uniprot.org/uniprot/O60602", "type": "external" } ], "mass": 97800.0, "length": 858, "protein_name": "Toll-like receptor 5", "gene_name": "TLR5", "organism": "Human", "refseq_name": "toll-like receptor 5 precursor", "refseq_ac": [ { "id": "NP_003259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003259", "type": "external" } ], "gene_names_uniprotkb": "TLR5; TIL3", "gene_names_refseq": "MELIOS; SLE1; SLEB1; TIL3; TLR5", "protein_names_uniprotkb": "Toll-like receptor 5; Toll/interleukin-1 receptor-like protein 3", "protein_names_refseq": "systemic lupus erythematosus susceptibility 1; toll-like receptor 5 precursor; toll/interleukin-1 receptor-like protein 3", "tax_id": 9606, "disease": "Legionnaires' disease (Disease Ontology:DOID:10457); cystic fibrosis (Disease Ontology:DOID:1485); alcohol use disorder (Disease Ontology:DOID:1574); cystitis (Disease Ontology:DOID:1679); chronic granulomatous disease (Disease Ontology:DOID:3265); autoimmune disease (Disease Ontology:DOID:417); melioidosis (Disease Ontology:DOID:5052); ankylosing spondylitis (Disease Ontology:DOID:7147); perinatal necrotizing enterocolitis (Disease Ontology:DOID:8677); systemic lupus erythematosus (Disease Ontology:DOID:9074); systemic lupus erythematosus, susceptibility to, 1 (MONDO:MONDO:0011138); legionnaire disease, susceptibility to (MONDO:MONDO:0012057); melioidosis, susceptibility to (MONDO:MONDO:0014251)", "pathway": " (hsa:7100); (R-HSA-168176); (R-HSA-5602680); (R-HSA-5603037); (R-HSA-975871)", "pathway_count": 5, "publication_count": 50, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11323673;11489966;11960013;12138165;12140561;12297423;12447442;12637671;12807870;14623910;14625308;15241424;15340161;16024789;16027372;16439799;17141195;17157808;17442957;17485511;17516623;17890055;17893200;18070982;18438411;18490781;18669862;18810425;19179655;19224918;19592493;19924287;20485341;20557879;20855887;20966070;22173220;23447684;24316379;24778236;29934223;37823415;38213148;38482010;8837778;9430229;9435236;9596645", "class_list": "", "function": "A stop codon polymorphism of Toll-like receptor 5 is associated with resistance to systemic lupus erythematosus. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Expression of mRNA-TLR-5 Gene in Patients with Endometriosis using Real-time PCR in Tehran, Iran., [RefSeq, PubMed]; Identification of toll-like receptor 5 and acyl-CoA synthetase long chain family member 1 as hub genes are correlated with the severe forms of COVID-19 by Weighted gene co-expression network analysis., [RefSeq, PubMed]; Our results do not indicate a major influence of these putative functional TLR5 and TLR9 single nucleotide polymorphisms on the susceptibility to (or protection from) systemic lupus erythematosus. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Pattern recognition receptor (PRR) located on the cell surface that participates in the activation of innate immunity and inflammatory response (PubMed:11323673, PubMed:18490781). Recognizes small molecular motifs named pathogen-associated molecular pattern (PAMPs) expressed by pathogens and microbe-associated molecular patterns (MAMPs) usually expressed by resident microbiota (PubMed:29934223). Upon ligand binding such as bacterial flagellins, recruits intracellular adapter proteins MYD88 and TRIF leading to NF-kappa-B activation, cytokine secretion and induction of the inflammatory response (PubMed:11489966, PubMed:20855887). Plays thereby an important role in the relationship between the intestinal epithelium and enteric microbes and contributes to the gut microbiota composition throughout life (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; TLR5-deficiency controls dendritic cell subset development in an autoimmune diabetes-susceptible model. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the toll-like receptor (TLR) family, which plays a fundamental role in pathogen recognition and activation of innate immune responses. These receptors recognize distinct pathogen-associated molecular patterns that are expressed on infectious agents. The protein encoded by this gene recognizes bacterial flagellin, the principal component of bacterial flagella and a virulence factor. The activation of this receptor mobilizes the nuclear factor NF-kappaB, which in turn activates a host of inflammatory-related target genes. Mutations in this gene have been associated with both resistance and susceptibility to systemic lupus erythematosus, and susceptibility to Legionnaire disease.[provided by RefSeq, Dec 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 7, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 7, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 7, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 48, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 13, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B1AZ05;B3Y633;B9VJ63;D1CS80;D3DTB8;O15456;Q32MI2;Q32MI3", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0005149 interleukin-1 receptor binding;GO:0038187 pattern recognition receptor activity;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006954 inflammatory response;GO:0045087 innate immune response;GO:0071260 cellular response to mechanical stimulus;GO:0032757 positive regulation of interleukin-8 production;GO:0002224 toll-like receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "O60602-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75204-1", "uniprot_id": [ { "id": "TM127_HUMAN", "url": "https://www.uniprot.org/uniprot/O75204", "type": "external" } ], "mass": 25842.0, "length": 238, "protein_name": "Transmembrane protein 127", "gene_name": "TMEM127", "organism": "Human", "refseq_name": "transmembrane protein 127 isoform 1", "refseq_ac": [ { "id": "NP_001180233", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180233", "type": "external" } ], "gene_names_uniprotkb": "TMEM127", "gene_names_refseq": "TMEM127", "protein_names_uniprotkb": "Transmembrane protein 127", "protein_names_refseq": "transmembrane protein 127 isoform 1", "tax_id": 9606, "disease": "pheochromocytoma (Disease Ontology:DOID:0050771)", "pathway": " (hsa:55654)", "pathway_count": 1, "publication_count": 56, "publication_id_list": "11237011;18507432;18691976;20154675;20923864;21156949;24715725;25502872;25732826;26154972;26992070;27862975;28228285;28467828;28514659;28832583;28904123;29242379;29314611;29547888;29557506;29632711;29786170;30315122;30429286;30484775;30573663;30833945;31092671;31154438;31217245;31844290;32157095;32161166;32350084;32488085;32526160;32575117;32938616;32983136;33051659;33298915;33392160;33592498;33912179;33936100;33968037;34171305;34357683;35051231;35154160;35251023;35580925;36010968;36215666;37659079", "class_list": "", "function": "Controls cell proliferation acting as a negative regulator of TOR signaling pathway mediated by mTORC1. May act as a tumor suppressor., [UniProtKB, PubMed]; Functional Characterization of TMEM127 Variants Reveals Novel Insights into Its Membrane Topology and Trafficking., [RefSeq, PubMed]; Genotype-Phenotype Features of Germline Variants of the TMEM127 Pheochromocytoma Susceptibility Gene: A 10-Year Update., [RefSeq, PubMed]; Germline mutations in TMEM127 confer susceptibility to pheochromocytoma and identify TMEM127 as a tumor suppressor gene. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Pathological and genomic data demonstrated that a TMEM127 gene mutation not previously described was causative of a new case of familial bilateral pheochromocytoma., [RefSeq, PubMed]; TMEM127 suppresses tumor development by promoting RET ubiquitination, positioning, and degradation., [RefSeq, PubMed]; The Tumour Suppressor TMEM127 Is a Nedd4-Family E3 Ligase Adaptor Required by Salmonella SteD to Ubiquitinate and Degrade MHC Class II Molecules., [RefSeq, PubMed]; This gene encodes a transmembrane protein with four predicted transmembrane domains. The protein is associated with a subpopulation of vesicular organelles corresponding to early endosomal structures, with the Golgi, and with lysosomes, and may participate in protein trafficking between these structures. Mutations in this gene and several other genes cause pheochromocytomas. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Aug 2022]., [RefSeq]; We found that under nutrient-rich conditions TMEM127 expression reduces mTORC1 recruitment to Rags. In addition, TMEM127 interacts with LAMTOR in an amino acid-dependent manner and decreases the LAMTOR1-vATPase association, while TMEM127-vATPase binding requires intact lysosomal acidification but is amino acid independent, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "D3DXH0", "ec_number_list": [], "go_molecular_function": "GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0008285 negative regulation of cell population proliferation;GO:0032007 negative regulation of TOR signaling;GO:0032006 regulation of TOR signaling", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "O75204-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49842-4", "uniprot_id": [ { "id": "WHR1_HUMAN", "url": "https://www.uniprot.org/uniprot/P49842", "type": "external" } ], "mass": 28465.0, "length": 254, "protein_name": "Winged helix repair factor 1", "gene_name": "WHR1", "organism": "Human", "refseq_name": "winged helix repair factor 1 isoform 2", "refseq_ac": [ { "id": "NP_115830", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115830", "type": "external" } ], "gene_names_uniprotkb": "WHR1; G11; RP1; STK19; TWH19", "gene_names_refseq": "D6S60E; D6S60; G11; HLA-RP1; RP1; STK19; TWH19; WHR1", "protein_names_uniprotkb": "Winged helix repair factor 1; Inactive serine/threonine-protein kinase 19; Protein G11; Protein RP1; Tandem winged helix protein formerly known as STK19", "protein_names_refseq": "MHC class III HLA-RP1; Tandem Winged Helix protein previously known as STK19; inactive serine/threonine-protein kinase 19; nuclear serine/threonine protein kinase; serine/threonine kinase 19; serine/threonine-protein kinase 19; tandem winged helix protein formerly known as STK19; winged helix repair factor 1 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:8859)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "14656967;17344846;27920218;28832583;29242379;29632046;29786170;30712867;32531245;32531246;38252411;38890355;39353615;39547223;39547228;39547229;8012361;8132574;8575831;9812991", "class_list": "", "function": "DNA-binding protein which is required for efficient transcription-coupled nucleotide excision repair (TC-NER) (PubMed:38252411, PubMed:38890355, PubMed:39353615, PubMed:39547223, PubMed:39547228, PubMed:39547229). Acts as part of a TC-NER complex which assembles and interacts with RNA polymerase II (RNAPII) when it stalls at DNA lesions (PubMed:39547223, PubMed:39547228, PubMed:39547229). TC-NER complex subunit UVSSA binds to the GTF2H1/p62 subunit of the TFIIH transcription factor complex, tethering TFIIH to the TC-NER complex (PubMed:39547228). WHR1/STK19 then interacts with the XPD helicase subunit of TFIIH which guides TFIIH to DNA downstream of the stalled RNAPII, ensuring DNA repair (PubMed:39353615, PubMed:39547228, PubMed:39547229). Directly interacts with RNAPII and also binds to downstream DNA (PubMed:39547229). Promotes the timely removal of DNA damage-stalled RNAPII, allowing downstream NER factors to access DNA lesions (PubMed:39547228, PubMed:39547229). Required for monoubiquitination of UVSSA (PubMed:39353615). Regulates repositioning and stabilization of UVSSA within the TC-NER complex (PubMed:39547223). Stimulates ubiquitination of RNAPII complex member RBP1 (PubMed:39547223). Also binds to RNA and regulates the expression levels of many mRNAs (PubMed:38252411, PubMed:38890355)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a serine/threonine kinase which localizes predominantly to the nucleus. Its specific function is unknown; it is possible that phosphorylation of this protein is involved in transcriptional regulation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6 and expresses two transcript variants. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 19, "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": "A6NF95;A6NFW8;B0QZR5;Q13159;Q31617;Q5JP77;Q5ST72;Q5ST75", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0003690 double-stranded DNA binding;GO:0003725 double-stranded RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0016607 nuclear speck", "go_biological_process": "GO:0046579 positive regulation of Ras protein signal transduction;GO:0006281 DNA repair;GO:1903518 positive regulation of single strand break repair", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "P49842-4", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZMZ3-1", "uniprot_id": [ { "id": "SYNE3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZMZ3", "type": "external" } ], "mass": 112216.0, "length": 975, "protein_name": "Nesprin-3", "gene_name": "SYNE3", "organism": "Human", "refseq_name": "nesprin-3 isoform 1", "refseq_ac": [ { "id": "NP_689805", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689805", "type": "external" } ], "gene_names_uniprotkb": "SYNE3; C14orf139; C14orf49; LINC00341", "gene_names_refseq": "C14orf139; C14orf49; KASH3; LINC00341; NCRNA00341; NET53; Nesp3; SYNE3", "protein_names_uniprotkb": "Nesprin-3; KASH domain-containing protein 3; KASH3; Nuclear envelope spectrin repeat protein 3", "protein_names_refseq": "KASH domain-containing protein 3; long intergenic non-protein coding RNA 341; nesprin-3 isoform 1; nesprin-3; nuclear envelope spectrin repeat protein 3; uncharacterized protein C14orf113", "tax_id": 9606, "disease": "Huntington's disease (Disease Ontology:DOID:12858)", "pathway": " (hsa:161176)", "pathway_count": 1, "publication_count": 84, "publication_id_list": "10.1038/emboj.2013.79;11237011;16330710;18396275;18827015;18991276;19615748;20068231;21937718;22424782;22518138;22544926;23481700;23584533;24714562;24715725;25418920;25576301;25880248;25892735;26154972;26375851;26728094;26992070;27846572;27920218;28063628;28218747;28228285;28514659;28649982;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29789417;29901114;30315122;30379171;30410026;30429286;30524438;30672021;31217245;31844290;32157095;32357974;32387766;32488085;32502341;32700968;32897882;32938616;32948197;32983136;33058875;33141586;33298915;33633747;33717175;33912179;33936100;33968037;33981976;34171305;34211107;34405274;34509645;34932366;35051231;35318648;35580925;36010968;36241641;37938771;40914422", "class_list": "", "function": "As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. Probable anchoring protein which tethers the nucleus to the cytoskeleton by binding PLEC which can associate with the intermediate filament system. Plays a role in the regulation of aortic epithelial cell morphology, and is required for flow-induced centrosome polarization and directional migration in aortic endothelial cells., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Association with human nesprin-3 appeared to be stronger for torsinADeltaE than for torsinA. TorsinA also associated with the KASH domains of nesprin-1 and -2, [RefSeq, PubMed]; Expression profile of SYNE3 and bioinformatic analysis of its prognostic value and functions in tumors. Publication Status: Online-Only, [RefSeq, PubMed]; LINC00341 interacts with miR-141 to suppress its functional binding to the 3'-untranslated region of YAF2 messenger RNA whereby supporting chondrocyte survival and preventing osteoarthritis progression., [RefSeq, PubMed]; Long Noncoding RNAs as Bone Marrow Stem Cell Regulators in Osteoporosis., [RefSeq, PubMed]; SPAG4, in cooperation with Nesprin3, has a fundamental pathological function in the migration of lung carcinoma cells., [RefSeq, PubMed]; Structural Analysis of Different LINC Complexes Reveals Distinct Binding Modes., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "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": "A6H8H3;Q86SX5;Q8N7G8", "ec_number_list": [], "go_molecular_function": "GO:0051015 actin filament binding;GO:0140444 cytoskeleton-nuclear membrane anchor activity", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005737 cytoplasm;GO:0005791 rough endoplasmic reticulum;GO:0016020 membrane;GO:0031965 nuclear membrane", "go_biological_process": "GO:0007010 cytoskeleton organization;GO:0008360 regulation of cell shape;GO:0090150 establishment of protein localization to membrane;GO:0007097 nuclear migration", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "Q6ZMZ3-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P59543-1", "uniprot_id": [ { "id": "T2R20_HUMAN", "url": "https://www.uniprot.org/uniprot/P59543", "type": "external" } ], "mass": 35358.0, "length": 309, "protein_name": "Taste receptor type 2 member 20", "gene_name": "TAS2R20", "organism": "Human", "refseq_name": "taste receptor type 2 member 20", "refseq_ac": [ { "id": "NP_795370", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_795370", "type": "external" } ], "gene_names_uniprotkb": "TAS2R20; TAS2R49", "gene_names_refseq": "T2R20; T2R49; T2R56; TAS2R20; TAS2R49", "protein_names_uniprotkb": "Taste receptor type 2 member 20; T2R49; T2R56; Taste receptor type 2 member 49; Taste receptor type 2 member 56", "protein_names_refseq": "taste receptor type 2 member 20; taste receptor type 2 member 56; taste receptor, type 2, member 49", "tax_id": 9606, "disease": "", "pathway": " (hsa:259295); (R-HSA-418594); (R-HSA-420499); (R-HSA-9717207)", "pathway_count": 4, "publication_count": 79, "publication_id_list": "10761935;11007482;11208605;11696554;11917125;12015988;12120503;12139982;12379855;12581520;12584440;1325650;1329206;14634208;15194188;15353592;15385606;15496549;15576628;15738140;15951850;16634148;16923326;17167479;17506496;18434541;18577758;19104071;19696921;20022913;20033988;20555319;21148030;21422378;21795555;23121374;23632330;23674604;24157691;24214976;24235081;24360415;24633359;24715725;2534964;25853419;26377607;27071541;2748346;28256214;2834384;29466837;29614098;29659026;29741879;29744740;30013099;30563861;34171305;35051231;7476890;7617140;7620613;7623957;7720699;7759551;7908515;7937899;8015379;8288584;8406495;8887960;9065781;9131252;9144337;9144651;9473604;9844003;9872316", "class_list": "", "function": "Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; This gene encodes a member of the taste receptor two family of class C G-protein coupled receptors. Receptors of this family have a short extracellular N-terminus, seven transmembrane helices, three extracellular loops and three intracellular loops, and an intracellular C-terminus. Members of this family are expressed in a subset of taste receptor cells, where they function in bitter taste reception, as well as in non-gustatory cells including those of the brain, reproductive organs, respiratory system, and gastrointestinal system. This gene maps to the taste receptor gene cluster on chromosome 12p13. [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": 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": 15, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "P59549;Q2HIZ4;Q496D8;Q645X9", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0033038 bitter taste receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "P59543-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q969E4-1", "uniprot_id": [ { "id": "TCAL3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q969E4", "type": "external" } ], "mass": 22502.0, "length": 200, "protein_name": "Transcription elongation factor A protein-like 3", "gene_name": "TCEAL3", "organism": "Human", "refseq_name": "transcription elongation factor A protein-like 3", "refseq_ac": [ { "id": "NP_001006934", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001006934", "type": "external" } ], "gene_names_uniprotkb": "TCEAL3; MSTP072", "gene_names_refseq": "TCEAL3; WEX8", "protein_names_uniprotkb": "Transcription elongation factor A protein-like 3; TCEA-like protein 3; Transcription elongation factor S-II protein-like 3", "protein_names_refseq": "TCEA-like protein 3; transcription elongation factor A (SII)-like 3; transcription elongation factor A protein-like 3; transcription elongation factor S-II protein-like 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:85012)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "10051408;17081983;17287340;17525332;18077418;18510355;19651622;21406692;23301498;29557506;29789417;30429286;31848261;35051231", "class_list": "", "function": "Characterizes TCEAL1, another member of the human TCEAL gene family., [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB]; This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family contain TFA domains and may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. Multiple family members are located on the X chromosome. Alternative splicing results in multiple transcript variants encoding a single isoform. [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": 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": "D3DXA4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q969E4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5QJE6-1", "uniprot_id": [ { "id": "TDIF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5QJE6", "type": "external" } ], "mass": 84469.0, "length": 756, "protein_name": "Deoxynucleotidyltransferase terminal-interacting protein 2", "gene_name": "DNTTIP2", "organism": "Human", "refseq_name": "deoxynucleotidyltransferase terminal-interacting protein 2", "refseq_ac": [ { "id": "NP_055412", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055412", "type": "external" } ], "gene_names_uniprotkb": "DNTTIP2; ERBP; TDIF2", "gene_names_refseq": "DNTTIP2; ERBP; FCF2; HSU15552; LPTS-RP2; TdIF2", "protein_names_uniprotkb": "Deoxynucleotidyltransferase terminal-interacting protein 2; Estrogen receptor-binding protein; LPTS-RP2; LPTS-interacting protein 2; TdIF2; TdT-interacting factor 2; Terminal deoxynucleotidyltransferase-interacting factor 2", "protein_names_refseq": "LPTS-interacting protein 2; acidic 82 kDa protein mRNA; deoxynucleotidyltransferase terminal-interacting protein 2; estrogen receptor binding protein; tdT-interacting factor 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:30836)", "pathway_count": 1, "publication_count": 112, "publication_id_list": "11237011;12786946;15047147;16964243;17081983;18212344;18220336;18452278;18669648;18767875;18991276;19413330;19415658;19651622;19664995;19690332;19691289;20068230;20068231;21406692;21668587;21872626;23186163;23301498;23481700;24714562;25218447;25418920;25576301;25645385;25772364;25880248;26154972;26375851;26728094;26992070;27543614;27600516;27726376;27846572;27862975;27920218;28218747;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29331515;29351928;29393594;29493099;29508533;29557506;29605689;29632046;29632711;29769354;29786170;30315122;30379171;30410026;30429286;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32522876;32897882;32938616;32983136;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34078123;34087483;34171305;34357683;34509645;34516797;34561969;34932366;35051231;35251023;35318648;35561310;35580925;36010968;36241641;36284347;37938771;38151292;40596516;40914422", "class_list": "", "function": "Depletion of DNTTIP2 Induces Cell Cycle Arrest in Pancreatic Cancer Cells., [RefSeq, PubMed]; Regulates the transcriptional activity of DNTT and ESR1. May function as a chromatin remodeling protein (PubMed:12786946, PubMed:15047147). 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, PubMed]; The TdIF2 might promote hrDNAP activity by suppressing Tip60's HAT activity and promoting UBF acetylation., [RefSeq, PubMed]; This gene is thought to be involved in chromatin remodeling and gene transcription. The encoded nuclear protein binds to and enhances the transcriptional activity of the estrogen receptor alpha, and also interacts with terminal deoxynucleotidyltransferase. The expression profile of this gene is a potential biomarker for chronic obstructive pulmonary disease. [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": 50, "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": "Q12987;Q53H59;Q5TFJ4;Q6TLI0;Q76MJ8;Q86WX9", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0032040 small-subunit processome", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006396 RNA processing;GO:0042274 ribosomal small subunit biogenesis;GO:0030490 maturation of SSU-rRNA", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "Q5QJE6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0AVI4-1", "uniprot_id": [ { "id": "TM129_HUMAN", "url": "https://www.uniprot.org/uniprot/A0AVI4", "type": "external" } ], "mass": 40464.0, "length": 362, "protein_name": "E3 ubiquitin-protein ligase TM129", "gene_name": "TMEM129", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase TM129 isoform a", "refseq_ac": [ { "id": "NP_001120738", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120738", "type": "external" } ], "gene_names_uniprotkb": "TMEM129", "gene_names_refseq": "D4S2561E; TMEM129", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase TM129; 2.3.2.27; RING-type E3 ubiquitin transferase TM129", "protein_names_refseq": "E3 ubiquitin-protein ligase TM129 isoform a; E3 ubiquitin-protein ligase TM129; RING-type E3 ubiquitin transferase TM129; transmembrane protein 129, E3 ubiquitin protein ligase", "tax_id": 9606, "disease": "", "pathway": " (hsa:92305); (R-HSA-8866654)", "pathway_count": 2, "publication_count": 59, "publication_id_list": "10562279;11237011;11740563;15215855;15215856;16307923;16868077;17108083;17130289;17726030;18316726;18359941;18719106;19208625;19410543;19723507;21203937;21329877;21396873;21554508;22021426;24662292;24715725;24807418;24979766;25030448;25170678;25936802;26086376;26154972;26210183;26216882;26344566;26350214;26711259;27569044;27597759;27798111;27854284;28218747;28904123;29493099;29557506;30410026;31217245;31844290;32157095;32938616;33298915;33537174;33912179;33968037;34171305;35580925;35941660;36010968;36241641;8625414;8991089", "class_list": "", "function": "E3 ubiquitin-protein ligase involved in ER-associated protein degradation, preferentially associates with the E2 enzyme UBE2J2. Exploited by viral US11 proteins to mediate HLA class I proteins degradation., [UniProtKB, PubMed]; Identification of TMEM129, encoding a ubiquitin-protein ligase, as an effector gene of osteoarthritis genetic risk. Publication Status: Online-Only, [RefSeq, PubMed]; TMEM129 contains an unusual cysteine-only RING with intrinsic E3 ligase activity and is recruited to US11 via Derlin-1., [RefSeq, PubMed]; TMEM129 is an integral part of the Endoplasmic Reticulum-resident dislocation complex mediating US11-induced HLA class I degradation. Publication Status: Online-Only, [RefSeq, PubMed]; TRC8 and TMEM129 are endoplasmic reticulum-associated degradation ubiquitin E3 ligases for viral and cellular targeting of MHC class I. (Review) Review article, [RefSeq, PubMed]; This insertion in the endoplasmic reticulum membrane positions the C-terminal really interesting new gene (RING) domain of TMEM129 in the cytosol, making it available to catalyze ubiquitination reactions that are required for cytosolic degradation of secretory proteins. 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": "A6NH49;A6NI98;D3DVP8", "ec_number_list": [ { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:0016020 membrane", "go_biological_process": "GO:0016567 protein ubiquitination;GO:0000209 protein polyubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0036503 ERAD pathway;GO:0006986 response to unfolded protein", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "A0AVI4-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TDR2-1", "uniprot_id": [ { "id": "STK35_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TDR2", "type": "external" } ], "mass": 58051.0, "length": 534, "protein_name": "Serine/threonine-protein kinase 35", "gene_name": "STK35", "organism": "Human", "refseq_name": "serine/threonine-protein kinase 35", "refseq_ac": [ { "id": "NP_543026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_543026", "type": "external" } ], "gene_names_uniprotkb": "STK35; CLIK1; PDIK1; STK35L1", "gene_names_refseq": "CLIK1; STK35L1; STK35", "protein_names_uniprotkb": "Serine/threonine-protein kinase 35; 2.7.11.1; CLIK-1; CLP-36-interacting kinase 1; PDLIM1-interacting kinase 1; Serine/threonine-protein kinase 35 L1", "protein_names_refseq": "CLIK-1; CLP-36 interacting kinase; CLP-36-interacting kinase 1; PDLIM1-interacting kinase 1; serine threonine kinase 35 long form; serine/threonine-protein kinase 35 L1; serine/threonine-protein kinase 35", "tax_id": 9606, "disease": "", "pathway": " (hsa:140901)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "11237011;11973348;18691976;19756140;21964068;23481700;25576301;25645385;26992070;27600516;27846572;28063628;28228285;28832583;29242379;29414823;29557506;29632046;30524438;30620550;31092671;31844290;32157095;32387766;32488085;32502341;32938616;32983136;33592498;33691108;33912179;33968037;34087483;34405274;34509645;34932366;35021089;35051231;36010968;36241641;40596516", "class_list": "", "function": "Analysis of the STK35L proteins in human and in sea squirts Publication Status: Online-Only, [RefSeq, PubMed]; Constitutive overexpression of STK35 proteins enhances caspase-independent cell death under oxidative stress conditions., [RefSeq, PubMed]; Results establish the CLP-36 PDZ-LIM protein as an adapter, recruiting the Clik1 kinase to actin stress fibers in nonmuscle cells, and suggest that Clik1 represents a novel regulator of actin stress fibers, [RefSeq, PubMed]; SCP4-STK35/PDIK1L complex is a dual phospho-catalytic signaling dependency in acute myeloid leukemia., [RefSeq, PubMed]; STK35 knockdown enhanced apoptosis. Expression of the active forms and the activity of two major executioner caspases, caspase 3 and caspase 7, were also increased in osteosarcoma cells with STK35 silenced., [RefSeq, PubMed]; The protein encoded by this gene is a kinase that is predominantly found in the nucleus. However, it can interact with PDLIM1/CLP-36 in the cytoplasm and localize to actin stress fibers. The encoded protein may be a regulator of actin stress fibers in nonmuscle cells. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 1, "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": "B2RBM3;C7ENV8;Q2NKW6;Q5T3R1;Q5T3R2;Q96AB4;Q9BZ06", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO: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:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0010972 negative regulation of G2/M transition of mitotic cell cycle;GO:0110031 negative regulation of G2/MI transition of meiotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q8TDR2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NGB0-2", "uniprot_id": [ { "id": "T191C_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NGB0", "type": "external" } ], "mass": 34809.0, "length": 302, "protein_name": "Transmembrane protein 191C", "gene_name": "TMEM191C", "organism": "Human", "refseq_name": "transmembrane protein 191C isoform 2", "refseq_ac": [ { "id": "NP_001193981", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193981", "type": "external" } ], "gene_names_uniprotkb": "TMEM191C", "gene_names_refseq": "TMEM191C", "protein_names_uniprotkb": "Transmembrane protein 191C", "protein_names_refseq": "KB-1323B2.6; transmembrane protein 191C isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:645426)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", 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0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A1B0GW53", "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": "A6NGB0-2", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NJG2-1", "uniprot_id": [ { "id": "SWAHD_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NJG2", "type": "external" } ], "mass": 33803.0, "length": 315, "protein_name": "Ankyrin repeat domain-containing protein SOWAHD", "gene_name": "SOWAHD", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein SOWAHD", "refseq_ac": [ { "id": "NP_001099046", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099046", "type": "external" } ], "gene_names_uniprotkb": "SOWAHD; ANKRD58", "gene_names_refseq": "ANKRD58; SOWAHD", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein SOWAHD; Ankyrin repeat domain-containing protein 58; Protein sosondowah homolog D", "protein_names_refseq": "ankyrin repeat domain 58; ankyrin repeat domain-containing protein 58; ankyrin repeat domain-containing protein SOWAHD; protein sosondowah homolog D", "tax_id": 9606, "disease": "", "pathway": " (hsa:347454)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "24715725;26375851;26992070;28649982;28832583;29632711;29786170;30429286;32502341;32983136;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, 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"0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IV01-1", "uniprot_id": [ { "id": "SYT12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IV01", "type": "external" } ], "mass": 46537.0, "length": 421, "protein_name": "Synaptotagmin-12", "gene_name": "SYT12", "organism": "Human", "refseq_name": "synaptotagmin-12 isoform a", "refseq_ac": [ { "id": "NP_001171351", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171351", "type": "external" } ], "gene_names_uniprotkb": "SYT12", "gene_names_refseq": "SYT12; sytXII", "protein_names_uniprotkb": "Synaptotagmin-12; Synaptotagmin XII; SytXII", "protein_names_refseq": "synaptotagmin-12 isoform a; synaptotagmin-XII", "tax_id": 9606, "disease": "", "pathway": " (hsa:91683); (R-HSA-6794361)", "pathway_count": 2, "publication_count": 34, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11604393;15540461;16242404;16624946;16846852;17190793;17897391;18812509;18829961;20064387;20064388;20519524;21282647;25378172;29786170;30484775;30779550;32108133;32161166;32350084;32938616;33537174;34171305;35580925;36215666;36241641;7695896;7736595;8576240;9069287;9808458;9927700", "class_list": "", "function": "Studies of the orthologous gene in rat have shown that spontaneous synaptic-vesicle exocytosis is selectively modulated by synaptotagmin 12., [RefSeq, PubMed]; Synaptic vesicle phosphoprotein that enhances spontaneous neurotransmitter release but does not effect induced neurotransmitter release (By similarity). Unlike other synaptotagmins, it does not bind Ca(2+) or phospholipids (By similarity). Essential for mossy-fiber long-term potentiation in the hippocampus (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Synaptotagmin 12 (SYT12) Gene Expression Promotes Cell Proliferation and Progression of Lung Adenocarcinoma and Involves the Phosphoinositide 3-Kinase (PI3K)/AKT/Mammalian Target of Rapamycin (mTOR) Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate calcium-dependent regulation of membrane trafficking in synaptic transmission. Studies of the orthologous gene in rat have shown that the encoded protein selectively modulates spontaneous synaptic-vesicle exocytosis and may also be involved in regulating calcium independent secretion in nonneuronal cells. Alternative splicing results in multiple transcript variants. The gene has previously been referred to as synaptotagmin XI but has been renamed synaptotagmin XII to be standard with mouse and rat official nomenclature.[provided by RefSeq, Apr 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0005544 calcium-dependent phospholipid binding;GO:0000149 SNARE binding;GO:0061891 calcium ion sensor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030672 synaptic vesicle membrane;GO:0070382 exocytic vesicle;GO:0098686 hippocampal mossy fiber to CA3 synapse", "go_biological_process": "GO:0016192 vesicle-mediated transport;GO:0060291 long-term synaptic potentiation;GO:0017158 regulation of calcium ion-dependent exocytosis;GO:0048792 spontaneous exocytosis of neurotransmitter;GO:0099171 presynaptic modulation of chemical synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q8IV01-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7L8C5-1", "uniprot_id": [ { "id": "SYT13_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7L8C5", "type": "external" } ], "mass": 46885.0, "length": 426, "protein_name": "Synaptotagmin-13", "gene_name": "SYT13", "organism": "Human", "refseq_name": "synaptotagmin-13 isoform 1", "refseq_ac": [ { "id": "NP_065877", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065877", "type": "external" } ], "gene_names_uniprotkb": "SYT13; KIAA1427", "gene_names_refseq": "SYT13", "protein_names_uniprotkb": "Synaptotagmin-13; Synaptotagmin XIII; SytXIII", "protein_names_refseq": "synaptotagmin XIII; synaptotagmin-13 isoform 1; sytXIII", "tax_id": 9606, "disease": "small intestine carcinoid neuroendocrine tumor (Disease Ontology:DOID:0050925); stomach cancer (Disease Ontology:DOID:10534); breast cancer (Disease Ontology:DOID:1612); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); lung adenocarcinoma (Disease Ontology:DOID:3910); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:57586)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11543631;18202767;20840848;28657654;29741294;30833945;31055693;31848261;34171305;35051231;35580925;35753051;36284347;36630025;37074911;39046915;39097602", "class_list": "", "function": "Heterozygous knockout of Synaptotagmin13 phenocopies ALS features and TP53 activation in human motor neurons. Publication Status: Online-Only, [RefSeq, PubMed]; Human SYT13 functions as a liver tumor suppressor gene that complements a molecular defect in rat liver tumor cells resulting in a normalized cellular phenotype in vitro and suppression of tumorigenicity in vivo, [RefSeq, PubMed]; May be involved in transport vesicle docking to the plasma membrane., [UniProtKB]; Role of synaptotagmin 13 (SYT13) in promoting breast cancer and signaling pathways., [RefSeq, PubMed]; SYT13 expression in gastric cancer is associated with peritoneal metastases., [RefSeq, PubMed]; SYT13 levels were significantly associated with shorter peritoneal recurrence-free survival (PRFS) and overall survival in patients with gastric cancer; positive levels of SYT13 and CEA mRNA demonstrated the highest hazards ratio for peritoneal recurrence, [RefSeq, PubMed]; Synaptotagmin 13 Could Drive the Progression of Esophageal Squamous Cell Carcinoma Through Upregulating ACRV1., [RefSeq, PubMed]; The highly expressed calcium-insensitive synaptotagmin-11 and synaptotagmin-13 modulate insulin secretion., [RefSeq, PubMed]; These studies combine to suggest that SYT13 is a liver tumor suppressor gene and that its function may be mediated through pathways implicated in mesenchymal to epithelial transition, [RefSeq, PubMed]; This gene encodes a member of the large synaptotagmin protein family. Family members have an extracellular N-terminal transmembrane domain and a cytoplasmic C terminus with two tandem C2 domains (C2A and C2B). Synaptotogmin family members can form homo- and heteromeric complexes with each other. They also have different biochemical properties and developmental profiles, and patterns of tissue distribution. Synaptotagmins function as membrane traffickers in multicellular organisms. Two alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 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": 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": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 6, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8K4P4;D3DQP1;Q9BQS3;Q9H041;Q9P2C0", "ec_number_list": [], "go_molecular_function": "GO:0005544 calcium-dependent phospholipid binding;GO:0000149 SNARE binding;GO:0061891 calcium ion sensor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030424 axon;GO:0030133 transport vesicle;GO:0030672 synaptic vesicle membrane;GO:0070382 exocytic vesicle", "go_biological_process": "GO:0016192 vesicle-mediated transport;GO:0017158 regulation of calcium ion-dependent exocytosis;GO:2000300 regulation of synaptic vesicle exocytosis;GO:0099502 calcium-dependent activation of synaptic vesicle fusion", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q7L8C5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14804-1", "uniprot_id": [ { "id": "TAAR5_HUMAN", "url": "https://www.uniprot.org/uniprot/O14804", "type": "external" } ], "mass": 38242.0, "length": 337, "protein_name": "Trace amine-associated receptor 5", "gene_name": "TAAR5", "organism": "Human", "refseq_name": "trace amine-associated receptor 5", "refseq_ac": [ { "id": "NP_003958", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003958", "type": "external" } ], "gene_names_uniprotkb": "TAAR5; PNR", "gene_names_refseq": "PNR; TAAR5; taR-5", "protein_names_uniprotkb": "Trace amine-associated receptor 5; Putative neurotransmitter receptor; TaR-5; Trace amine receptor 5; hTaar5", "protein_names_refseq": "putative neurotransmitter receptor; trace amine receptor 5; trace amine-associated receptor 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:9038); (R-HSA-375280); (R-HSA-418555)", "pathway_count": 3, "publication_count": 67, "publication_id_list": "11007482;11459929;12036966;12058044;12106601;12180353;12860470;13549488;14671004;1517224;15718104;15765929;15769620;15951850;16313925;16687412;16878137;16923326;17168849;17218486;18044684;18577758;18828673;19105585;19876791;19929708;20381629;20559446;21036126;2163110;23393561;23481700;2417744;24687066;2491850;2553411;2553705;25706283;26417854;2871555;29443750;29557506;29602314;30833991;3127824;31279028;31399091;31983287;32226383;32497535;32540603;32618402;32715661;33035477;33049737;33091337;34445502;35494241;37225986;6085243;8340388;8514797;8672451;9263355;9417641;9464258;9651336", "class_list": "", "function": "Human trace amine-associated receptor TAAR5 can be activated by trimethylamine., [RefSeq, PubMed]; Olfactory receptor specific for trimethylamine, a trace amine (PubMed:23393561). Also activated at lower level by dimethylethylamine (PubMed:23393561). Trimethylamine is a bacterial metabolite found in some animal odors, and to humans it is a repulsive odor associated with bad breath and spoiled food (PubMed:23393561). Trimethylamine-binding causes a conformation change that triggers signaling via G(s)-class of G alpha proteins (GNAL or GNAS) (PubMed:23393561)., [UniProtKB, PubMed]; Pattern of TAAR5 Expression in the Human Brain Based on Transcriptome Datasets Analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Previous studies reported TAAR expression in brain. This paper found TAAR expression only in olfactory epithelial cells and that each TAAR detects a unique set of amine ligands. TAARs seem to function as a family of chemosensory receptors for amines., [RefSeq, PubMed]; Sequence Variants in TAAR5 and Other Loci Affect Human Odor Perception and Naming., [RefSeq, PubMed]; The murine and human TAAR5 (hTAAR5) display significant basal activity in the Gq/11 pathway. 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": 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": "D8KZS1;Q2M1V1;Q4VBL1;Q5VUQ3;Q6NTA8", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0001594 trace-amine receptor activity;GO:1990081 trimethylamine receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0050890 cognition;GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "O14804-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60347-1", "uniprot_id": [ { "id": "TBC12_HUMAN", "url": "https://www.uniprot.org/uniprot/O60347", "type": "external" } ], "mass": 85626.0, "length": 775, "protein_name": "TBC1 domain family member 12", "gene_name": "TBC1D12", "organism": "Human", "refseq_name": "TBC1 domain family member 12", "refseq_ac": [ { "id": "NP_056003", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056003", "type": "external" } ], "gene_names_uniprotkb": "TBC1D12; KIAA0608", "gene_names_refseq": "TBC1D12", "protein_names_uniprotkb": "TBC1 domain family member 12", "protein_names_refseq": "TBC1 domain family member 12", "tax_id": 9606, "disease": "", "pathway": " (hsa:23232)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "18669648;19690332;23186163;27846572;28384198;31844290;32157095;32265295;32357974;32387766;32938616;32983136;33298915;33968037;34171305;35051231;35580925;39531497", "class_list": "", "function": "RAB11A-binding protein that plays a role in neurite outgrowth., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q5VYA6;Q8WX26;Q8WX59;Q9UG83", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0019899 enzyme binding", "go_cellular_component": "GO:0055037 recycling endosome;GO:0005776 autophagosome", "go_biological_process": "GO:0016192 vesicle-mediated transport;GO:2000785 regulation of autophagosome assembly", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "O60347-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C7X1-1", "uniprot_id": [ { "id": "TBC3H_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C7X1", "type": "external" } ], "mass": 62219.0, "length": 549, "protein_name": "TBC1 domain family member 3H", "gene_name": "TBC1D3H", "organism": "Human", "refseq_name": "TBC1 domain family member 3H", "refseq_ac": [ { "id": "NP_001116864", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116864", "type": "external" } ], "gene_names_uniprotkb": "TBC1D3H", "gene_names_refseq": "TBC1D3H", "protein_names_uniprotkb": "TBC1 domain family member 3H", "protein_names_refseq": "TBC1 domain family member 3-like; TBC1 domain family member 3H", "tax_id": 9606, "disease": "", "pathway": " (hsa:729877)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "16863688;21030649", "class_list": "", "function": "Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (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": "A6NH17;A8MZ78", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005768 endosome;GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "P0C7X1-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P52823-1", "uniprot_id": [ { "id": "STC1_HUMAN", "url": "https://www.uniprot.org/uniprot/P52823", "type": "external" } ], "mass": 27621.0, "length": 247, "protein_name": "Stanniocalcin-1", "gene_name": "STC1", "organism": "Human", "refseq_name": "stanniocalcin-1 precursor", "refseq_ac": [ { "id": "NP_003146", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003146", "type": "external" } ], "gene_names_uniprotkb": "STC1; STC", "gene_names_refseq": "STC1; STC", "protein_names_uniprotkb": "Stanniocalcin-1; STC-1", "protein_names_refseq": "stanniocalcin-1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:6781)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "10.1038/emboj.2013.79;15340161;23584533;29557506;30429286;30779550;32157095;33592498;33968037;35051231;37607946;37975233;38768671;39215105;39218976;7489828;8700837;9794484", "class_list": "", "function": "A20 promotes colorectal cancer immune evasion by upregulating STC1 expression to block 'eat-me' signal. Publication Status: Online-Only, [RefSeq, PubMed]; MicroRNA-606 inhibits the growth and metastasis of triple-negative breast cancer by targeting Stanniocalcin 1., [RefSeq, PubMed]; STC1 competitively binding betaPIX enhances melanoma progression via YAP nuclear translocation and M2 macrophage recruitment through the YAP/CCL2/VEGFA/AKT feedback loop., [RefSeq, PubMed]; Stanniocalcin 1 and 1,25-dihydroxyvitamin D3 cooperatively regulate bone mineralization by osteoblasts., [RefSeq, PubMed]; Stanniocalcin-1 promotes temozolomide resistance of glioblastoma through regulation of MGMT. Publication Status: Online-Only, [RefSeq, PubMed]; Stimulates renal phosphate reabsorption, and could therefore prevent hypercalcemia., [UniProtKB]; This gene encodes a secreted, homodimeric glycoprotein that is expressed in a wide variety of tissues and may have autocrine or paracrine functions. The gene contains a 5' UTR rich in CAG trinucleotide repeats. The encoded protein contains 11 conserved cysteine residues and is phosphorylated by protein kinase C exclusively on its serine residues. The protein may play a role in the regulation of renal and intestinal calcium and phosphate transport, cell metabolism, or cellular calcium/phosphate homeostasis. Overexpression of human stanniocalcin 1 in mice produces high serum phosphate levels, dwarfism, and increased metabolic rate. This gene has altered expression in hepatocellular, ovarian, and breast cancers. [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": 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": 10, "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": "B4DN22;Q71UE5", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0005179 hormone activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0071320 cellular response to cAMP;GO:0006874 intracellular calcium ion homeostasis;GO:0030336 negative regulation of cell migration;GO:0071456 cellular response to hypoxia;GO:0051926 negative regulation of calcium ion transport", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "P52823-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P59534-1", "uniprot_id": [ { "id": "T2R39_HUMAN", "url": "https://www.uniprot.org/uniprot/P59534", "type": "external" } ], "mass": 38626.0, "length": 338, "protein_name": "Taste receptor type 2 member 39", "gene_name": "TAS2R39", "organism": "Human", "refseq_name": "taste receptor type 2 member 39", "refseq_ac": [ { "id": "NP_795362", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_795362", "type": "external" } ], "gene_names_uniprotkb": "TAS2R39", "gene_names_refseq": "T2R39; T2R57; TAS2R39", "protein_names_uniprotkb": "Taste receptor type 2 member 39; T2R39; T2R57; Taste receptor type 2 member 57", "protein_names_refseq": "taste receptor type 2 member 39; taste receptor type 2 member 57; taste receptor, type 2, member 39", "tax_id": 9606, "disease": "", "pathway": " (hsa:259285); (R-HSA-418594); (R-HSA-420499); (R-HSA-9717207)", "pathway_count": 4, "publication_count": 79, "publication_id_list": "10761935;11007482;11208605;11696554;11917125;12015988;12120503;12139982;12379855;12581520;1325650;1329206;14634208;15194188;15353592;15385606;15496549;15576628;15738140;15951850;16634148;16923326;17167479;17506496;18434541;18577758;19104071;19696921;20022913;20033988;20555319;21148030;21272567;21422378;21670512;21795555;21942422;23121374;23632330;23674604;24157691;24214976;24235081;24360415;24633359;25273142;2534964;25853419;26377607;27071541;2748346;28256214;2834384;29466837;29614098;29659026;29744740;30013099;30563861;35051231;7476890;7617140;7620613;7623957;7720699;7759551;7908515;7937899;8015379;8288584;8406495;8887960;9065781;9131252;9144337;9144651;9473604;9844003;9872316", "class_list": "", "function": "HTAS2R39 is the primary receptor for the bitterness of theaflavins, [RefSeq, PubMed]; Human bitter taste receptors hTAS2R8 and hTAS2R39 display differential functions to recognize bitter peptides., [RefSeq, PubMed]; Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity)., [UniProtKB]; TAS2R14 and TAS2R39 were activated by isoflavones and other isoflavonoids., [RefSeq, PubMed]; The protein encoded by this gene is a bitter taste receptor that detects green tea catechins, soy isoflavones, and theaflavins. The encoded protein is gustducin-linked and may activate alpha gustducin. This gene is intronless. [provided by RefSeq, Dec 2015]., [RefSeq]; These results suggest the participation of hTAS2R39 in the detection of catechins in humans., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A4FUI7;Q3ZCN6;Q645W4", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0033038 bitter taste receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0001580 detection of chemical stimulus involved in sensory perception of bitter taste", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "P59534-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P68371-1", "uniprot_id": [ { "id": "TBB4B_HUMAN", "url": "https://www.uniprot.org/uniprot/P68371", "type": "external" } ], "mass": 49831.0, "length": 445, "protein_name": "Tubulin beta-4B chain", "gene_name": "TUBB4B", "organism": "Human", "refseq_name": "tubulin beta-4B chain", "refseq_ac": [ { "id": "NP_006079", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006079", "type": "external" } ], "gene_names_uniprotkb": "TUBB4B; TUBB2C", "gene_names_refseq": "Beta2; LCAEOD; TUBB2C; TUBB2; TUBB4B", "protein_names_uniprotkb": "Tubulin beta-4B chain; Tubulin beta-2 chain; Tubulin beta-2C chain", "protein_names_refseq": "class IVb beta tubulin; epididymis secretory sperm binding protein; tubulin beta-2 chain; tubulin beta-2C chain; tubulin beta-4B chain; tubulin, beta 2C; tubulin, beta, 2", "tax_id": 9606, "disease": "cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome (Disease Ontology:DOID:0050997); ptosis (Disease Ontology:DOID:0060260); complex cortical dysplasia with other brain malformations 7 (Disease Ontology:DOID:0090132); tubulinopathy (Disease Ontology:DOID:0112227); Leber congenital amaurosis with early-onset deafness (Disease Ontology:DOID:0112240); facial paralysis (Disease Ontology:DOID:13934)", "pathway": " (hsa:10383); (R-HSA-1445148); (R-HSA-190840); (R-HSA-190861); (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-389957); (R-HSA-389960); (R-HSA-389977); (R-HSA-437239); (R-HSA-5610787); (R-HSA-5620912); (R-HSA-5620920); (R-HSA-5620924); (R-HSA-5626467); (R-HSA-5663220); (R-HSA-6798695); (R-HSA-6807878); (R-HSA-6811434); (R-HSA-6811436); (R-HSA-68877); (R-HSA-8852276); (R-HSA-8854518); (R-HSA-8955332); (R-HSA-9609690); (R-HSA-9609736); (R-HSA-9619483); (R-HSA-9646399); (R-HSA-9648025); (R-HSA-9668328); (R-HSA-983189); (R-HSA-9833482)", "pathway_count": 39, "publication_count": 855, "publication_id_list": 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"class_list": "", "function": "Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules. Erratum:[Science. 2024 May 10;384(6696):eadq2178. doi: 10.1126/science.adq2178. PMID: 38723101], [RefSeq, PubMed]; P300 reduces TUBB4B expression to facilitate the biological process of migration and invasion of non-small cell lung cancer cells., [RefSeq, PubMed]; TUBB4B gene mutation in Leber phenotype of congenital amaurosis syndrome associated with early-onset deafness., [RefSeq, PubMed]; Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin., [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": 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": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 6, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A2BFA2;P05217", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005200 structural constituent of cytoskeleton;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0051082 unfolded protein binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0030317 flagellated sperm motility;GO:0000226 microtubule cytoskeleton organization;GO:0042267 natural killer cell mediated cytotoxicity", "synthesized_glycan_count": 0, "hit_score": 86.5, "record_id": "P68371-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5QJ38-1", "uniprot_id": [ { "id": "TCHL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5QJ38", "type": "external" } ], "mass": 99275.0, "length": 904, "protein_name": "Trichohyalin-like protein 1", "gene_name": "TCHHL1", "organism": "Human", "refseq_name": "trichohyalin-like protein 1", "refseq_ac": [ { "id": "NP_001008536", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008536", "type": "external" } ], "gene_names_uniprotkb": "TCHHL1; S100A17; THHL1", "gene_names_refseq": "S100A17; TCHHL1; THHL1", "protein_names_uniprotkb": "Trichohyalin-like protein 1; Basalin; Protein S100-A17; S100 calcium-binding protein A17", "protein_names_refseq": "S100 calcium-binding protein A17; basalin; intermediate filament-associated protein; trichohyalin-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:126637)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "21614011;23376073;29557506;30379171;30524438;33091337;34984527", "class_list": "", "function": "These findings highlight the possibility that TCHHL1 proteins are expressed in growing keratinocytes of the epidermis and might be associated with the proliferation of keratinocytes., [RefSeq, PubMed]; This gene belongs to the S100 fused-type protein (SFTP) gene family, and is located in a cluster of SFTP genes on chromosome 1q21. Several members of this family have been implicated in the development of complex skin disorders. This gene is evolutionarily conserved; its expression appears to be hair-specific and spatially restricted within the distal inner root sheath of the hair follicle. It thus may have an important role in hair morphogenesis. [provided by RefSeq, Aug 2013]., [RefSeq]; Uncommon variants in FLG2 and TCHHL1 are associated with remission of atopic dermatitis in a large longitudinal US cohort., [RefSeq, PubMed]; We identified and characterized a novel S100 fused type protein expressed in hair 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": 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": 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": "B2RPK8;Q5VTJ9", "ec_number_list": [], "go_molecular_function": "GO:0046914 transition metal ion binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q5QJ38-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T4T1-1", "uniprot_id": [ { "id": "T170B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T4T1", "type": "external" } ], "mass": 14360.0, "length": 132, "protein_name": "Transmembrane protein 170B", "gene_name": "TMEM170B", "organism": "Human", "refseq_name": "transmembrane protein 170B", "refseq_ac": [ { "id": "NP_001094299", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094299", "type": "external" } ], "gene_names_uniprotkb": "TMEM170B", "gene_names_refseq": "TMEM170B", "protein_names_uniprotkb": "Transmembrane protein 170B", "protein_names_refseq": "transmembrane protein 170B", "tax_id": 9606, "disease": "", "pathway": " (hsa:100113407)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "28228285;29367600;29557506;30315122;31844290;32938616;35051231;38147699", "class_list": "", "function": "CAFs-derived exosomes promote the development of cervical cancer by regulating miR-18a-5p-TMEM170B signaling axis., [RefSeq, PubMed]; Negatively regulates the canonical Wnt signaling in breast cancer cells. Exerts an inhibitory effect on breast cancer growth by inhibiting CTNNB1 stabilization and nucleus translocation, which reduces the activity of Wnt targets (PubMed:29367600)., [UniProtKB, PubMed]; These results highlight TMEM170B as a novel tumor suppressor target in association with the beta-catenin pathway. 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": 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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0090090 negative regulation of canonical Wnt signaling pathway;GO:0016055 Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q5T4T1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VT97-1", "uniprot_id": [ { "id": "SYDE2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VT97", "type": "external" } ], "mass": 133230.0, "length": 1194, "protein_name": "Rho GTPase-activating protein SYDE2", "gene_name": "SYDE2", "organism": "Human", "refseq_name": "rho GTPase-activating protein SYDE2", "refseq_ac": [ { "id": "NP_115560", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115560", "type": "external" } ], "gene_names_uniprotkb": "SYDE2", "gene_names_refseq": "SYDE2", "protein_names_uniprotkb": "Rho GTPase-activating protein SYDE2; Protein syd-1 homolog 2; Synapse defective protein 1 homolog 2", "protein_names_refseq": "protein syd-1 homolog 2; rho GTPase-activating protein SYDE2; synapse defective 1, Rho GTPase, homolog 2; synapse defective protein 1 homolog 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:84144); (R-HSA-9013149)", "pathway_count": 2, "publication_count": 236, "publication_id_list": "10.1101/2023.09.13.557529;10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;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;11961559;12071859;12093360;12096337;12195014;12221096;12351724;12432077;12531887;12546821;12547822;12650940;12665586;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;16636067;16702231;16762923;16777452;16777849;16862148;16896804;16914516;16968698;17077126;17145773;17196961;17214551;17244649;17583407;17599059;17702745;17765681;17804252;17976533;18006505;18045877;18218625;18249095;18347018;18396277;18426980;18653540;18669648;18838382;19269969;19494238;19605563;19664994;19673492;19690332;19713215;19934221;20400958;20460433;20679435;20810653;21148482;21406692;21542010;21565175;21613211;21730051;21865595;21989057;22004470;22096251;22298643;22407364;22475431;22608513;22734669;22970203;23186163;23209303;23255595;23288169;23434736;23572525;23707487;23718289;23940355;24086303;24259668;24335996;24352656;24859002;24933155;24960694;25024229;25211221;25428919;25576301;25704760;25721503;25795300;25862245;25880248;26129894;26529257;26887924;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27806292;27920218;28114311;28196833;29089502;29242379;29358323;29382922;29557506;30379171;30429286;30853411;31844290;31871319;32157095;32203420;32357974;32938616;33298915;34087483;35051231;35318648;36010968;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8537347;8543060;8643598;8645157;8662891;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9113980;9305890;9438849;9490638;9497316;9582072;9659915;9670022;9792683;9822598;9843499;9988689", "class_list": "", "function": "GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state., [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": 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": 36, "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": "Q5VT96;Q8NDB8;Q9H8A6", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005829 cytosol;GO:0097060 synaptic membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0016477 cell migration;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0090630 activation of GTPase activity;GO:0046578 regulation of Ras protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 24.2, "record_id": "Q5VT97-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6EEV6-1", "uniprot_id": [ { "id": "SUMO4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6EEV6", "type": "external" } ], "mass": 10653.0, "length": 95, "protein_name": "Small ubiquitin-related modifier 4", "gene_name": "SUMO4", "organism": "Human", "refseq_name": "small ubiquitin-related modifier 4", "refseq_ac": [ { "id": "NP_001002255", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002255", "type": "external" } ], "gene_names_uniprotkb": "SUMO4; SMT3H4", "gene_names_refseq": "IDDM5; SMT3H4; SUMO-4; SUMO4; dJ281H8.4", "protein_names_uniprotkb": "Small ubiquitin-related modifier 4; SUMO-4; Small ubiquitin-like protein 4", "protein_names_refseq": "SMT3 suppressor of mif two 3 homolog 2; SMT3 suppressor of mif two 3 homolog 4; insulin-dependent diabetes mellitus 5; small ubiquitin-like modifier 4 protein; small ubiquitin-related modifier 4", "tax_id": 9606, "disease": "type 1 diabetes mellitus 5 (Disease Ontology:DOID:0110744)", "pathway": " (hsa:387082)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "12901503;15123604;15247916;15678134;15678135;15678137;16198310;16236267;28689037;28941036;30779550;31848261;32161166;32237992;35503374;37066695", "class_list": "", "function": "A SUMO4 initiator codon variant in amyotrophic lateral sclerosis reduces SUMO4 expression and alters stress granule dynamics., [RefSeq, PubMed]; Both donor and recipient SUMO4 rs237025 polymorphisms contribute to the development of new-onset diabetes mellitus after liver transplantation., [RefSeq, PubMed]; Donor SUMO4 rs237025 genetic variant was associated with higher tacrolimus C/D ratios in the early period after liver transplantation, which might be related to the down-regulation of CYP3A5 enzyme through the NF-kB signalling pathway., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Small ubiquitin-related modifier (SUMO) 3 and SUMO4 gene polymorphisms in Parkinson's disease., [RefSeq, PubMed]; The association of five polymorphisms with diabetic retinopathy in a Chinese population., [RefSeq, PubMed]; This gene is a member of the SUMO gene family. This family of genes encode small ubiquitin-related modifiers that are attached to proteins and control the target proteins' subcellular localization, stability, or activity. The protein described in this record is located in the cytoplasm and specifically modifies IKBA, leading to negative regulation of NF-kappa-B-dependent transcription of the IL12B gene. A specific polymorphism in this SUMO gene, which leads to the M55V substitution, has been associated with type I diabetes. The RefSeq contains this polymorphism. [provided by RefSeq, Jul 2008]., [RefSeq]; Ubiquitin-like protein which can be covalently attached to target lysines as a monomer. Does not seem to be involved in protein degradation and may modulate protein subcellular localization, stability or activity. Upon oxidative stress, conjugates to various anti-oxidant enzymes, chaperones, and stress defense proteins. May also conjugate to NFKBIA, TFAP2A and FOS, negatively regulating their transcriptional activity, and to NR3C1, positively regulating its transcriptional activity. Covalent attachment to its substrates requires prior activation by the E1 complex SAE1-SAE2 and linkage to the E2 enzyme UBE2I., [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": 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": "A1L3W5", "ec_number_list": [], "go_molecular_function": "GO:0044389 ubiquitin-like protein ligase binding;GO:0031386 protein tag activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016604 nuclear body;GO:0106068 SUMO ligase complex", "go_biological_process": "GO:0016925 protein sumoylation;GO:0045892 negative regulation of DNA-templated transcription;GO:0034599 cellular response to oxidative stress;GO:0043122 regulation of canonical NF-kappaB signal transduction;GO:0043388 positive regulation of DNA binding", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q6EEV6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6IEE7-1", "uniprot_id": [ { "id": "T132E_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6IEE7", "type": "external" } ], "mass": 116150.0, "length": 1074, "protein_name": "Transmembrane protein 132E", "gene_name": "TMEM132E", "organism": "Human", "refseq_name": "transmembrane protein 132E precursor", "refseq_ac": [ { "id": "NP_001291367", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291367", "type": "external" } ], "gene_names_uniprotkb": "TMEM132E", "gene_names_refseq": "DFNB99; TMEM132E", "protein_names_uniprotkb": "Transmembrane protein 132E", "protein_names_refseq": "transmembrane protein 132E precursor", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness 99 (Disease Ontology:DOID:0111634)", "pathway": " (hsa:124842)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;11237011;14569139;23584533;25331638;29557506;30459171;31154438;31656313;31848261;32929005;35051231;36284347", "class_list": "", "function": "Hair cell alpha9alpha10 nicotinic acetylcholine receptor functional expression regulated by ligand binding and deafness gene products., [RefSeq, PubMed]; Required for normal inner ear hair cell function and hearing., [UniProtKB, PubMed]; The authors present a second Autosomal-recessive (AR) nonsyndromic hearing impairment (NSHI) family with TMEM132E variants which strengthens the evidence of the involvement of this gene in the etiology of ARNSHI. Erratum:[J Hum Genet. 2022 Mar;67(3):181. doi: 10.1038/s10038-021-00951-9. PMID: 34526652], [RefSeq, PubMed]; Whole-exome sequencing revealed a homozygous missense mutation (c.1259G>A, p.Arg420Gln) in the gene-encoding transmembrane protein 132E (TMEM132E) as the causative variant of autosomal-recessive nonsyndromic hearing loss., [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": 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": 38, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 1, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A0A0J9YW40;Q8WUF4;Q8WVA5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane;GO:0044297 cell body", "go_biological_process": "GO:0035677 posterior lateral line neuromast hair cell development", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q6IEE7-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IZX4-1", "uniprot_id": [ { "id": "TAF1L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IZX4", "type": "external" } ], "mass": 207302.0, "length": 1826, "protein_name": "Transcription initiation factor TFIID subunit 1-like", "gene_name": "TAF1L", "organism": "Human", "refseq_name": "transcription initiation factor TFIID subunit 1-like", "refseq_ac": [ { "id": "NP_722516", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_722516", "type": "external" } ], "gene_names_uniprotkb": "TAF1L", "gene_names_refseq": "TAF(II)210; TAF1L; TAF2A2", "protein_names_uniprotkb": "Transcription initiation factor TFIID subunit 1-like; TAF(II)210; TBP-associated factor 1-like; TBP-associated factor 210 kDa; Transcription initiation factor TFIID 210 kDa subunit", "protein_names_refseq": "TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like; TBP-associated factor 1-like; TBP-associated factor 210 kDa; TBP-associated factor RNA polymerase 1-like; transcription initiation factor TFIID 210 kDa subunit; transcription initiation factor TFIID subunit 1-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:138474); (R-HSA-167161); (R-HSA-167162); (R-HSA-167172); (R-HSA-674695); (R-HSA-6804756); (R-HSA-73776); (R-HSA-73779); (R-HSA-75953); (R-HSA-76042)", "pathway_count": 10, "publication_count": 97, "publication_id_list": "10024882;10199401;10435622;10500146;10570149;10604467;10673500;10673501;10710310;10723029;10884347;11239457;11433015;11447225;11486021;11511362;11546806;11551930;11739720;11740489;11780126;11784853;11859374;11884399;12064478;12217962;12393879;12676794;12702766;12851404;12914926;1310361;14702041;15053879;15489290;15866171;16322561;17108107;17344846;17349958;17591690;18490454;19121998;1939271;19965871;20959462;21317932;22464331;23000554;23485397;23676219;23783831;24145406;2449431;24874608;25880248;26154972;27571988;27600516;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29557506;30315122;30410026;32174793;33298915;33392160;33592498;33912179;33936100;34087483;34171305;35051231;36010968;37541260;7151173;7601352;7660122;7660129;7660130;8156590;8330735;8370526;8465201;8490964;8946909;9256425;9353262;9405375;9450929;9489704;9925639", "class_list": "", "function": "Arose by retroposition of a processed TAF(II)250 mRNA during primate evolution, replaces its function only in male meiosis., [RefSeq, PubMed]; May act as a functional substitute for TAF1/TAFII250 during male meiosis, when sex chromosomes are transcriptionally silenced., [UniProtKB, PubMed]; TAF1 and TAF1L genes harbored not only somatic mutations but also mutational ITH., [RefSeq, PubMed]; TAF1L promotes development of oral squamous cell carcinoma via decreasing autophagy-dependent apoptosis. Publication Status: Online-Only, [RefSeq, PubMed]; This locus is intronless, and apparently arose in the primate lineage from retrotransposition of the transcript from the multi-exon TAF1 locus on the X chromosome. The gene is expressed in male germ cells, and the product has been shown to function interchangeably with the TAF1 product. [provided by RefSeq, Aug 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 86, "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": "Q0VG57", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0004674 protein serine/threonine kinase activity;GO:0017025 TBP-class protein binding;GO:0004402 histone acetyltransferase activity;GO:0016251 RNA polymerase II general transcription initiation factor activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005669 transcription factor TFIID complex", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0045893 positive regulation of DNA-templated transcription;GO:0007140 male meiotic nuclear division;GO:0051123 RNA polymerase II preinitiation complex assembly", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "Q8IZX4-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N300-1", "uniprot_id": [ { "id": "SVBP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N300", "type": "external" } ], "mass": 7808.0, "length": 66, "protein_name": "Small vasohibin-binding protein", "gene_name": "SVBP", "organism": "Human", "refseq_name": "small vasohibin-binding protein", "refseq_ac": [ { "id": "NP_955374", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_955374", "type": "external" } ], "gene_names_uniprotkb": "SVBP; CCDC23", "gene_names_refseq": "CCDC23; NEDAHM; SPG94; SVBP", "protein_names_uniprotkb": "Small vasohibin-binding protein; Coiled coil domain-containing protein 23", "protein_names_refseq": "coiled-coil domain containing 23; coiled-coil domain-containing protein 23; small vasohibin-binding protein", "tax_id": 9606, "disease": "neurodevelopmental disorder with ataxia, hypotonia, and microcephaly (MONDO:MONDO:0032816)", "pathway": " (hsa:374969); (R-HSA-8955332)", "pathway_count": 2, "publication_count": 39, "publication_id_list": "1520276;15890843;16901895;17244817;17244818;17360631;17499049;18331838;19524510;19531357;20519502;20736312;21074048;22614011;23358242;25103237;25418920;25468068;25957412;26811146;27879017;28063628;28832583;28904123;29146868;29146869;29242379;30315122;30429286;30607023;31171830;31235910;31235911;31270470;31324789;31363758;32265295;32387766;7452228", "class_list": "", "function": "Enhances the tyrosine carboxypeptidase activity of VASH1 and VASH2, thereby promoting the removal of the C-terminal tyrosine residue of alpha-tubulin (PubMed:29146869, PubMed:31171830, PubMed:31235910, PubMed:31235911, PubMed:31270470, PubMed:31324789). This activity is critical for spindle function and accurate chromosome segregation during mitosis since microtubule detyrosination regulates mitotic spindle length and postioning (PubMed:31171830). Also required to enhance the solubility and secretion of VASH1 and VASH2 (PubMed:20736312, PubMed:27879017, PubMed:30607023). Plays a role in axon and excitatory synapse formation (PubMed:31235911)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Identified a novel UPS regulatory system in which essential domain architecture (VASH-PS) of VASHs, comprising regions VASH191-180 and VASH280-169 , regulate the cytosolic punctate structure formation in the absence of SVBP., [RefSeq, PubMed]; SVBP is not only involved in angiogenesis, but also has vital functions in the central nervous system. Biallelic loss-of-function variants in SVBP lead to intellectual disability., [RefSeq, PubMed]; SVBP(CCDC23)acts as a secretory chaperone for VASH1., [RefSeq, PubMed]; The authors identified a core heterodimeric complex of human small vasohibin-binding protein (SVBP) and vasohibin 1 (VASH1) that catalyzes the detyrosination of a peptide derived from C-terminus of alpha-tubulin. Erratum:[Cell Res. 2019 Sep;29(9):778. doi: 10.1038/s41422-019-0215-y. PMID: 31395957], [RefSeq, PubMed]; This study describes the crystal and solution structure of the tubulin carboxypeptidase complex between vasohibin (VASH1) and small vasohibin-binding protein (SVBP), which folds in a long helix, which stabilizes the VASH1 catalytic domain., [RefSeq, PubMed]; This study examined the crystal structures of human vasohibin 1 and 2 in complex with small vasohibin-binding protein (SVBP) in the absence and presence of different inhibitors and a C-terminal alpha-tubulin peptide., [RefSeq, PubMed]; VASH2 contributes to the angiogenesis in hepatocellular carcinoma via an SVBP-mediated paracrine mechanism., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 15, "reported_glycation": 0, "reported_snv": 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": "A8K5P1;D3DPW7", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0016504 peptidase activator activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005856 cytoskeleton;GO:0045177 apical part of cell", "go_biological_process": "GO:0006508 proteolysis;GO:0010596 negative regulation of endothelial cell migration;GO:0009306 protein secretion;GO:0031397 negative regulation of protein ubiquitination;GO:0061564 axon development", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q8N300-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TAV4-1", "uniprot_id": [ { "id": "STML3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TAV4", "type": "external" } ], "mass": 32135.0, "length": 291, "protein_name": "Stomatin-like protein 3", "gene_name": "STOML3", "organism": "Human", "refseq_name": "stomatin-like protein 3 isoform 2", "refseq_ac": [ { "id": "NP_001137505", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137505", "type": "external" } ], "gene_names_uniprotkb": "STOML3", "gene_names_refseq": "Epb7.2l; SRO; STOML3", "protein_names_uniprotkb": "Stomatin-like protein 3; SLP-3", "protein_names_refseq": "EPB72-like 3; SLP-3; erythrocyte band 7 integral membrane protein; protein 7.2B; stomatin (EPB72)-like 3; stomatin-like protein 3 isoform 2; stomatin-like protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:161003); (R-HSA-2672351)", "pathway_count": 2, "publication_count": 98, "publication_id_list": "10564087;10642508;10720933;10767424;10830164;10831588;11182090;11588175;11687798;11734858;11842292;11904445;11956057;12393854;12907679;1379744;14584882;14634667;15010458;15044642;15147738;15318163;15504734;15505377;15916532;15919655;16219661;16813530;16849430;16850186;17381423;17448995;17699613;17881003;18000046;18063579;18310267;18400985;18449189;18508966;18662336;18724360;19153159;19307298;19380724;19387438;19620632;19808995;19953639;20388639;20466723;20525693;20538786;21040849;21527911;21984732;22002868;22538188;22773952;22946059;2298749;23112050;2321095;23616951;24366607;2536303;26359375;26562072;27600516;28071645;28154142;28228285;28790369;29242379;29557506;29789417;31611695;31844290;32983136;34087483;35051231;7588753;7665160;7795595;8041726;8112288;8383669;8533761;8544406;8626462;8809036;9037075;9395096;9571199;9662395;9700209;9719863;9744806", "class_list": "", "function": "Amplification of the STOML3 gene is associated with mesenchymal differentiation in gliosarcoma., [RefSeq, PubMed]; Required for the function of many mechanoreceptors. Modulate mechanotransduction channels and acid-sensing ion channels (ASIC) proteins. Potentiates PIEZO1 and PIEZO2 function by increasing their sensitivity to mechanical stimulations., [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": 2, "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": "B4E285;Q5JS35", "ec_number_list": [], "go_molecular_function": "GO:0008200 ion channel inhibitor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005929 cilium;GO:0045121 membrane raft", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "Q8TAV4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WUJ0-1", "uniprot_id": [ { "id": "STYX_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WUJ0", "type": "external" } ], "mass": 25492.0, "length": 223, "protein_name": "Serine/threonine/tyrosine-interacting protein", "gene_name": "STYX", "organism": "Human", "refseq_name": "serine/threonine/tyrosine-interacting protein", "refseq_ac": [ { "id": "NP_001124173", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124173", "type": "external" } ], "gene_names_uniprotkb": "STYX", "gene_names_refseq": "STYX", "protein_names_uniprotkb": "Serine/threonine/tyrosine-interacting protein; Inactive tyrosine-protein phosphatase STYX; Phosphoserine/threonine/tyrosine interaction protein", "protein_names_refseq": "inactive tyrosine-protein phosphatase STYX; phosphoserine/threonine/tyrosine interaction protein; protein tyrosine phosphatase-like protein; serine/threonine/tyrosine-interacting protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:6815)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "18058037;19369647;23186163;23847209;26992070;27397612;27893789;28007894;28228285;28408485;28514659;28832583;28834231;28904123;29242379;29331515;29485866;29508533;29557506;29786170;30315122;30429286;30981757;31217245;31844290;32157095;32239181;32502341;32897882;32983136;33592498;33717175;33968037;33981976;34171305;35318648;35580925;9633825", "class_list": "", "function": "Catalytically inactive phosphatase (PubMed:23847209). Acts as a nuclear anchor for MAPK1/MAPK3 (ERK1/ERK2) (PubMed:23847209). Modulates cell-fate decisions and cell migration by spatiotemporal regulation of MAPK1/MAPK3 (ERK1/ERK2) (PubMed:23847209). By binding to the F-box of FBXW7, prevents the assembly of FBXW7 into the SCF E3 ubiquitin-protein ligase complex, and thereby inhibits degradation of its substrates (PubMed:28007894). Plays a role in spermatogenesis (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Results suggest that STYX is a pseudophosphatase that uses the 'competitor' and 'anchor' mode of action to exert its biologic roles. [review] Review article, [RefSeq, PubMed]; STYX bound to the F-box and WD repeat domain-containing7 (FBXW7) protein and inhibited its function. Co-regulation of STYX and FBXW7 expression reversed the biological changes mediated by regulation of STYX expression alone in CRC cells., [RefSeq, PubMed]; STYX/FBXW7 axis participates in the development of endometrial cancer cell via Notch-mTOR signaling pathway., [RefSeq, PubMed]; The authors show that STYX binds to the F-box domain of FBXW7 and disables its recruitment into the SCF ubiquitin ligase complex. Erratum:[EMBO J. 2018 Mar 15;37(6):e99170. doi: 10.15252/embj.201899170. PMID: 29545456], [RefSeq, PubMed]; The protein encoded by this gene is a pseudophosphatase, able to bind potential substrates but lacking an active catalytic loop. The encoded protein may be involved in spermiogenesis. Two transcript variants encoding the same protein have been found for these genes. [provided by RefSeq, Oct 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "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": "B9EJG0;Q99850", "ec_number_list": [], "go_molecular_function": "GO:1990444 F-box domain binding;GO:0001691 pseudophosphatase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0032091 negative regulation of protein binding;GO:0070372 regulation of ERK1 and ERK2 cascade;GO:0062026 negative regulation of SCF-dependent proteasomal ubiquitin-dependent catabolic process", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q8WUJ0-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96RI9-1", "uniprot_id": [ { "id": "TAAR9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96RI9", "type": "external" } ], "mass": 39016.0, "length": 348, "protein_name": "Trace amine-associated receptor 9", "gene_name": "TAAR9", "organism": "Human", "refseq_name": "trace amine-associated receptor 9", "refseq_ac": [ { "id": "NP_778227", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_778227", "type": "external" } ], "gene_names_uniprotkb": "TAAR9; TA3; TAR3; TRAR3", "gene_names_refseq": "TA3; TAAR9; TAR3; TAR9; TRAR3", "protein_names_uniprotkb": "Trace amine-associated receptor 9; TaR-3; TaR-9; Trace amine receptor 3; Trace amine receptor 9", "protein_names_refseq": "trace amine receptor 3; trace amine receptor 9; trace amine-associated receptor 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:134860); (R-HSA-375280); (R-HSA-418555)", "pathway_count": 3, "publication_count": 60, "publication_id_list": "11007482;11459929;12036966;12058044;12106601;12180353;12860470;13549488;14671004;1517224;15765929;15769620;15951850;16313925;16687412;16878137;16923326;17168849;17218486;18044684;18577758;18828673;19105585;19876791;19929708;20006992;20381629;21036126;2163110;2417744;24687066;2491850;2553411;2553705;26417854;2871555;29443750;29557506;29602314;30833991;3127824;31279028;31399091;31983287;32226383;32497535;32540603;32618402;32715661;33049737;34600890;35051231;38253038;6085243;8340388;8514797;8672451;9263355;9417641;9651336", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Olfactory receptor specific for trace amines, such as N,N-dimethylcyclohexylamine (DMCHA) and beta-phenylethylamine (beta-PEA) (By similarity). In contrast to mouse and rat orthologs, not activated by triethylamine, cadaverine (CAD) or spermidine (PubMed:34600890). Trace amine compounds are enriched in animal body fluids and act on trace amine-associated receptors (TAARs) to elicit both intraspecific and interspecific innate behaviors (By similarity). Trace amine-binding causes a conformation change that triggers signaling via G(s)-class of G alpha proteins (GNAL or GNAS) (By similarity). In mature olfactory sensory neurons, TAAR9 is coupled with GNAL/G(olf)G alpha protein and mediates activation of adenylate cyclase activity to activate cAMP signaling and eventually transmit odorant signals to achieve membrane depolarization (By similarity). In immature olfactory sensory neurons, TAAR9 is coupled with GNAS/G(s) G alpha proteins (By similarity)., [UniProtKB, PubMed, UniProtKB]; Previous studies reported TAAR expression in brain. This paper found TAAR expression only in olfactory epithelial cells and that each TAAR detects a unique set of amine ligands. TAARs seem to function as a family of chemosensory receptors for amines., [RefSeq, PubMed]; TAAR9 is a member of a large family of rhodopsin G protein-coupled receptors (GPCRs, or GPRs). GPCRs contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM, Jul 2005]., [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": 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": 19, "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": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0001594 trace-amine receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q96RI9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BRU2-1", "uniprot_id": [ { "id": "TCAL7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BRU2", "type": "external" } ], "mass": 12324.0, "length": 100, "protein_name": "Transcription elongation factor A protein-like 7", "gene_name": "TCEAL7", "organism": "Human", "refseq_name": "transcription elongation factor A protein-like 7", "refseq_ac": [ { "id": "NP_001335187", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001335187", "type": "external" } ], "gene_names_uniprotkb": "TCEAL7", "gene_names_refseq": "TCEAL7; WEX5", "protein_names_uniprotkb": "Transcription elongation factor A protein-like 7; TCEA-like protein 7; Transcription elongation factor S-II protein-like 7", "protein_names_refseq": "TCEA-like protein 7; transcription elongation factor A (SII)-like 7; transcription elongation factor A protein-like 7; transcription elongation factor S-II protein-like 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:56849)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "15870691;18806825;19966855;20454512;23372750;31321645;31402274;31848261;32952069", "class_list": "", "function": "A role for candidate tumor-suppressor gene TCEAL7 in the regulation of c-Myc activity, cyclin D1 levels and cellular transformation is reported., [RefSeq, PubMed]; Alteration of TCEAL7 expression levels in recombination-based alternative lengthening of telomeres and telomerase-positive cells affects hTERT expression, [RefSeq, PubMed]; Findings show that TCEAL7 expression is down-regulated in non-small cell lung cancer (NSCLC) like in other human cancers. This down-regulation was also associated with CCND1 over-expression in lung tumors., [RefSeq, PubMed]; Long non-coding RNA HAND2-AS1 inhibits gastric cancer progression by suppressing TCEAL7 expression via targeting miR-769-5p., [RefSeq, PubMed]; Our study suggests that TCEAL7 might serve as a candidate tumor suppressor and a potential prognostic biomarker in gastric carcinogenesis., [RefSeq, PubMed]; Plays a role in the negative regulation of NF-kappa-B signaling at the basal level by modulating transcriptional activity of NF-kappa-B on its target gene promoters. Associates with cyclin D1 promoter containing Myc E-box sequence and transcriptionally represses cyclin D1 expression. Regulates telomerase reverse transcriptase expression and telomerase activity in both ALT (alternative lengthening of telomeres)and telomerase-positive cell lines., [UniProtKB, PubMed, PubMed, PubMed]; TCEAL7 is a cell death regulatory protein that is frequently inactivated in ovarian cancers, and may function as a tumor suppressor., [RefSeq, PubMed]; These results suggest that miR-301a promotes radiation resistance by repressing anti-oncogene TCEAL7 expression and then activity of the 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B3KSV2;Q96AT4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q9BRU2-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXQ6-1", "uniprot_id": [ { "id": "T121B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXQ6", "type": "external" } ], "mass": 58425.0, "length": 578, "protein_name": "Transmembrane protein 121B", "gene_name": "TMEM121B", "organism": "Human", "refseq_name": "transmembrane protein 121B isoform b", "refseq_ac": [ { "id": "NP_001156551", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001156551", "type": "external" } ], "gene_names_uniprotkb": "TMEM121B; CECR6", "gene_names_refseq": "CECR6; TMEM121B", "protein_names_uniprotkb": "Transmembrane protein 121B; Cat eye syndrome critical region protein 6", "protein_names_refseq": "cat eye syndrome chromosome region, candidate 6; cat eye syndrome critical region protein 6; transmembrane protein 121B isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:27439)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11381032;20237496;25892735;29237092;30379171;31154438;31848261;33912179;35051231;35154160", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "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": "A8MYY1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9BXQ6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H4B7-1", "uniprot_id": [ { "id": "TBB1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H4B7", "type": "external" } ], "mass": 50327.0, "length": 451, "protein_name": "Tubulin beta-1 chain", "gene_name": "TUBB1", "organism": "Human", "refseq_name": "tubulin beta-1 chain", "refseq_ac": [ { "id": "NP_110400", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_110400", "type": "external" } ], "gene_names_uniprotkb": "TUBB1", "gene_names_refseq": "MACTHC1; TUBB1", "protein_names_uniprotkb": "Tubulin beta-1 chain", "protein_names_refseq": "tubulin beta-1 chain; tubulin, beta 1", "tax_id": 9606, "disease": "cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome (Disease Ontology:DOID:0050997); ptosis (Disease Ontology:DOID:0060260); autosomal dominant isolated macrothrombocytopenia 1 (Disease Ontology:DOID:0090102); complex cortical dysplasia with other brain malformations 7 (Disease Ontology:DOID:0090132); tubulinopathy (Disease Ontology:DOID:0112227); facial paralysis (Disease Ontology:DOID:13934); hypokalemic periodic paralysis (Disease Ontology:DOID:14452)", "pathway": " (hsa:81027); (R-HSA-1445148); (R-HSA-190840); (R-HSA-190861); (R-HSA-2132295); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-3371497); (R-HSA-380320); (R-HSA-389957); (R-HSA-389960); (R-HSA-389977); (R-HSA-437239); (R-HSA-5610787); (R-HSA-5620920); (R-HSA-5620924); (R-HSA-5626467); (R-HSA-5663220); (R-HSA-6807878); (R-HSA-6811434); (R-HSA-6811436); (R-HSA-68877); (R-HSA-8852276); (R-HSA-8955332); (R-HSA-9609690); (R-HSA-9609736); (R-HSA-9619483); (R-HSA-9646399); (R-HSA-9648025); (R-HSA-9668328); (R-HSA-983189); (R-HSA-9833482)", "pathway_count": 32, "publication_count": 781, "publication_id_list": 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"class_list": "", "function": "ADAM19 and TUBB1 Correlate with Tumor Infiltrating Immune Cells and Predicts Prognosis in Osteosarcoma., [RefSeq, PubMed]; Associations between TUBB-WWOX SNPs, their haplotypes, gene-gene, and gene-environment interactions and dyslipidemia., [RefSeq, PubMed]; Biophysical analysis of carboxy-terminal tail conformation of human beta-tubulin isotypes, [RefSeq, PubMed]; Expanding the genetic spectrum of TUBB1-related thrombocytopenia. Erratum:[Blood Adv. 2023 Mar 28;7(6):877. doi: 10.1182/bloodadvances.2022007189. PMID: 36920438], [RefSeq, PubMed]; Identification of a pathogenic TUBB1 variant in a Chinese family with congenital macrothrombocytopenia through whole genome sequencing., [RefSeq, PubMed]; Identification of novel TUBB1 variants in patients with macrothrombocytopenia. Publication Status: Online-Only, [RefSeq, PubMed]; SLPI localizes in part along the megakaaryocyte and platelet cytoskeleton by virtue of specific interactions with beta1 tubulin., [RefSeq, PubMed]; The TUBB1 Q43P polymorphism, by causing a lower reactivity in platelets carrying the variant form of b1-tubulin, protects against thrombotic disorders but increases the risk of intracerebral hemorrhage in men., [RefSeq, PubMed]; The platelet Q43P beta1-tubulin substitution is frequent in the healthy population and may protect men against arterial thrombosis GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is specifically expressed in platelets and megakaryocytes and may be involved in proplatelet production and platelet release. A mutations in this gene is associated with autosomal dominant macrothrombocytopenia. Two pseudogenes of this gene are found on chromosome Y.[provided by RefSeq, Jul 2010]., [RefSeq]; Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 9409, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005200 structural constituent of cytoskeleton;GO:0005525 GTP binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0097229 sperm end piece;GO:0005737 cytoplasm;GO:0005874 microtubule;GO:0005929 cilium;GO:0070062 extracellular exosome", "go_biological_process": "GO:0030878 thyroid gland development;GO:0046785 microtubule polymerization;GO:0000278 mitotic cell cycle;GO:0070527 platelet aggregation;GO:0000226 microtubule cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 78.4, "record_id": "Q9H4B7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H853-1", "uniprot_id": [ { "id": "TBA4B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H853", "type": "external" } ], "mass": 27551.0, "length": 241, "protein_name": "Tubulin-like protein alpha-4B", "gene_name": "TUBA4B", "organism": "Human", "refseq_name": "tubulin-like protein alpha-4B", "refseq_ac": [ { "id": "NP_001342150", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001342150", "type": "external" } ], "gene_names_uniprotkb": "TUBA4B; TUBA4", "gene_names_refseq": "TUBA4B; TUBA4", "protein_names_uniprotkb": "Tubulin-like protein alpha-4B; 3.6.5.-; Alpha-tubulin 4B", "protein_names_refseq": "putative tubulin-like protein alpha-4B; tubulin, alpha 4b (pseudogene); tubulin, alpha 4; tubulin-like protein alpha-4B", "tax_id": 9606, "disease": "", "pathway": " (hsa:80086); (R-HSA-1445148); (R-HSA-190840); (R-HSA-190861); (R-HSA-2132295); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-3371497); (R-HSA-380320); (R-HSA-389960); (R-HSA-389977); (R-HSA-437239); (R-HSA-5626467); (R-HSA-5663220); (R-HSA-6807878); (R-HSA-6811434); (R-HSA-6811436); (R-HSA-68877); (R-HSA-8852276); (R-HSA-8955332); (R-HSA-9609690); (R-HSA-9609736); (R-HSA-9619483); (R-HSA-9646399); (R-HSA-9648025); (R-HSA-9668328); (R-HSA-983189); (R-HSA-9833482)", "pathway_count": 28, "publication_count": 618, "publication_id_list": 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"class_list": "", "function": "Low expression TUBA4B in NSCLC tissue., [RefSeq, PubMed]; Low expression of lncRNA TUBA4B promotes proliferation and inhibits apoptosis of colorectal cancer cells via regulating P15 and P16 expressions., [RefSeq, PubMed]; The low expression of TUBA4B was significantly associated with poor overall survival, disease-free survival, and recurrence-free survival in cancer patients., [RefSeq, PubMed]; Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed ofalpha- and beta-tubulin heterodimers., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "6.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.-", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "5.6.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.3", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "2.4.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.41", "type": "external" }, { "id": "3.4.22.49", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.49", "type": "external" }, { "id": "5.3.99.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.17.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.-", "type": "external" }, { "id": "3.4.17.24", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.24", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.1.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.-", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.124", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.124", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "6.-.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.-.-.-", "type": "external" }, { "id": "5.6.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.1", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" } ], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0005525 GTP binding;GO:0016787 hydrolase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005874 microtubule", "go_biological_process": "GO:0007017 microtubule-based process", "synthesized_glycan_count": 0, "hit_score": 62.1, "record_id": "Q9H853-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NSE4-1", "uniprot_id": [ { "id": "SYIM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NSE4", "type": "external" } ], "mass": 113792.0, "length": 1012, "protein_name": "Isoleucine--tRNA ligase, mitochondrial", "gene_name": "IARS2", "organism": "Human", "refseq_name": "isoleucine--tRNA ligase, mitochondrial precursor", "refseq_ac": [ { "id": "NP_060530", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060530", "type": "external" } ], "gene_names_uniprotkb": "IARS2", "gene_names_refseq": "CAGSSS; IARS2; ILERS", "protein_names_uniprotkb": "Isoleucine--tRNA ligase, mitochondrial; 6.1.1.5; IleRS; Isoleucyl-tRNA synthetase", "protein_names_refseq": "isoleucine tRNA ligase 2, mitochondrial; isoleucine--tRNA ligase, mitochondrial precursor; isoleucine-tRNA synthetase 2, mitochondrial; isoleucyl-tRNA synthetase, mitochondrial; mitochondrial isoleucine tRNA synthetase", "tax_id": 9606, "disease": "mitochondrial metabolism disease (Disease Ontology:DOID:700); cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome (MONDO:MONDO:0014455)", "pathway": " (hsa:55699); (R-HSA-379726); (R-HSA-9837999)", "pathway_count": 3, "publication_count": 114, "publication_id_list": "10.1101/2023.09.13.557529;10329163;10684970;10764807;10828066;11923310;12198491;12690580;14623864;15274629;15522782;15779907;15870080;16115876;16300924;17081983;17101804;17297443;17384640;17579211;17847012;19209188;19608861;19841671;20068231;20112406;20877624;22262461;22645359;22710082;23201127;23301498;23931759;24315374;24520911;24715725;25130867;25576301;25880248;25892735;26504172;26923599;26992070;27078007;27496948;27642048;28228285;28328135;28377575;28396416;28510447;28649982;28904123;29242379;29301859;29557506;29632046;29769354;29914532;29932645;30041933;30120231;30315122;30419932;30429286;30779550;30832756;30833945;31154438;31217245;31327635;31530632;31695197;31844290;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33141586;33257573;33327715;33392160;33537174;33592498;33633747;33912179;33968037;33981976;34171305;34357683;34509645;34704252;34725712;34943861;35051231;35870450;36215666;36241641;36629048;38665916;39169373;39302247;7623837;7755634;8078941;9278442;9466989", "class_list": "", "function": "Aminoacyl-tRNA synthetase that catalyzes the specific attachment of isoleucine to its cognate tRNA (tRNA(Ile))., [UniProtKB, UniProtKB]; Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAS, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of isoleucine-tRNA synthetase exist, a cytoplasmic form and a mitochondrial form. This gene encodes the mitochondrial isoleucine-tRNA synthetase which belongs to the class-I aminoacyl-tRNA synthetase family. [provided by RefSeq, Dec 2014]., [RefSeq]; Biallelic IARS2 mutations presenting as sideroblastic anemia. Publication Status: Online-Only, [RefSeq, PubMed]; IARS2 knockdown can inhibit acute myeloid leukemia HL-60 cell proliferation and cause cell cycle arrest at the G1 phase by regulating the p53/p21/PCNA/eIF4E pathways., [RefSeq, PubMed]; IARS2 mutations lead to Leigh syndrome with a combined oxidative phosphorylation deficiency. Publication Status: Online-Only, [RefSeq, PubMed]; Meta-analysis of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Patients with this very rare mutation present with a myriad of ocular findings, including infantile cataract, neurotrophic keratitis, corneal opacification, and orbital myopathy., [RefSeq, PubMed]; This study is the first report of clinical findings associated with IARS2 mutations. Erratum:[Hum Mutat. 2015 Feb;36(2):281. Thiffaut, Isabelle [corrected to Thiffault, Isabelle]], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "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": "B2RPG8;Q1M2P9;Q6PI85;Q7L439;Q86WU9;Q96D91;Q9H9Q8;Q9NW42", "ec_number_list": [ { "id": "2.3.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.1", "type": "external" }, { "id": "1.4.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.1.3", "type": "external" }, { "id": "1.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.3", "type": "external" }, { "id": "6.4.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.4.1.3", "type": "external" }, { "id": "7.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.2.2", "type": "external" }, { "id": "4.2.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.2", "type": "external" }, { "id": "5.6.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.7", "type": "external" }, { "id": "1.2.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.4.1", "type": "external" }, { "id": "2.3.1.168", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.168", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "4.98.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:4.98.1.1", "type": "external" }, { "id": "1.1.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.38", "type": "external" }, { "id": "2.3.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.9", "type": "external" }, { "id": "7.1.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.2", "type": "external" }, { "id": "1.2.1.36", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.36", "type": "external" }, { "id": "1.7.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.7.1.-", "type": "external" }, { "id": "1.2.1.28", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.28", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "1.1.1.37", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.37", "type": "external" }, { "id": "6.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.5", "type": "external" }, { "id": "5.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.8", "type": "external" }, { "id": "1.3.8.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.1", "type": "external" }, { "id": "1.3.8.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.5", "type": "external" }, { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "2.3.3.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.10", "type": "external" }, { "id": "2.8.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.3.5", "type": "external" }, { "id": "3.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.1", "type": "external" }, { "id": "1.2.4.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.4.2", "type": "external" }, { "id": "5.3.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.21", "type": "external" }, { "id": "2.7.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "1.1.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.35", "type": "external" }, { "id": "2.7.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.23", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "1.1.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.62", "type": "external" }, { "id": "1.1.1.239", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.239", "type": "external" }, { "id": "1.1.1.178", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.178", "type": "external" }, { "id": "1.1.1.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.53", "type": "external" }, { "id": "1.1.1.159", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.159", "type": "external" }, { "id": "4.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.3", "type": "external" }, { "id": "2.3.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.41", "type": "external" } ], "go_molecular_function": "GO:0002161 aminoacyl-tRNA deacylase activity;GO:0004822 isoleucine-tRNA ligase activity;GO:0005524 ATP binding;GO:0000049 tRNA binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006428 isoleucyl-tRNA aminoacylation;GO:0006418 tRNA aminoacylation for protein translation;GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 11.9, "record_id": "Q9NSE4-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NYV8-1", "uniprot_id": [ { "id": "T2R14_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NYV8", "type": "external" } ], "mass": 36160.0, "length": 317, "protein_name": "Taste receptor type 2 member 14", "gene_name": "TAS2R14", "organism": "Human", "refseq_name": "taste receptor type 2 member 14", "refseq_ac": [ { "id": "NP_076411", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_076411", "type": "external" } ], "gene_names_uniprotkb": "TAS2R14", "gene_names_refseq": "T2R14; TAS2R14; TRB1", "protein_names_uniprotkb": "Taste receptor type 2 member 14; T2R14; TRB1; Taste receptor family B member 1", "protein_names_refseq": "taste receptor type 2 member 14; taste receptor, family B, member 1; taste receptor, type 2, member 14", "tax_id": 9606, "disease": "", "pathway": " (hsa:50840); (R-HSA-418594); (R-HSA-420499); (R-HSA-9717207)", "pathway_count": 4, "publication_count": 85, "publication_id_list": "10761934;10761935;11007482;11208605;11696554;11917125;12015988;12120503;12139982;12581520;1325650;1329206;14634208;15194188;15353592;15385606;15496549;15576628;15738140;15951850;16335952;16634148;16720576;16923326;17167479;17506496;18434541;18577758;19104071;19696921;20022913;20033988;20555319;21148030;21422378;21795555;23121374;23632330;23674604;24157691;24214976;24235081;24360415;24633359;2534964;25853419;26377607;27071541;2748346;28256214;2834384;29466837;29557506;29614098;29659026;29744740;29769354;30013099;30563861;33559200;34684394;34747964;35051231;36662576;38600377;38776963;7476890;7617140;7620613;7623957;7720699;7759551;7908515;7937899;8015379;8288584;8406495;8887960;9065781;9131252;9144337;9144651;9473604;9844003;9872316", "class_list": "", "function": "A Par3/LIM Kinase/Cofilin Pathway Mediates Human Airway Smooth Muscle Relaxation by TAS2R14., [RefSeq, PubMed]; Bitter taste TAS2R14 activation by intracellular tastants and cholesterol., [RefSeq, PubMed]; Bitter taste receptor T2R14 detects quorum sensing molecules from cariogenic Streptococcus mutans and mediates innate immune responses in gingival epithelial cells., [RefSeq, PubMed]; Gustducin-linked G protein-coupled receptor that plays a role in the perception of bitterness (PubMed:38600377, PubMed:38776963). The activity of this receptor stimulates GNAT3, activating the gustducin G protein pathway (PubMed:38600377, PubMed:38776963). Likely plays a role in sensing the chemical composition of the gastrointestinal content and other extra-oral tissues via the inhibitory G protein pathways (PubMed:38600377, PubMed:38776963)., [UniProtKB, PubMed, PubMed]; Identification and molecular docking of peptides from Mizuhopecten yessoensis myosin as human bitter taste receptor T2R14 blockers. Publication Status: Online-Only, [RefSeq, PubMed]; Neuropeptide Y Reduces Nasal Epithelial T2R Bitter Taste Receptor-Stimulated Nitric Oxide Production. Publication Status: Online-Only, [RefSeq, PubMed]; This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 27, "reported_glycation": 0, "reported_snv": 7, "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": "Q645X3", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0008527 taste receptor activity;GO:0033038 bitter taste receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0001580 detection of chemical stimulus involved in sensory perception of bitter taste", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "Q9NYV8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NER0-1", "uniprot_id": [ { "id": "TBC3F_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NER0", "type": "external" } ], "mass": 62185.0, "length": 549, "protein_name": "TBC1 domain family member 3F", "gene_name": "TBC1D3F", "organism": "Human", "refseq_name": "TBC1 domain family member 3F", "refseq_ac": [ { "id": "NP_115634", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115634", "type": "external" } ], "gene_names_uniprotkb": "TBC1D3F; TBC1D3E", "gene_names_refseq": "TBC1D3F", "protein_names_uniprotkb": "TBC1 domain family member 3F", "protein_names_refseq": "TBC1 domain family member 3F; TBC1 domain family member 3; prostate cancer gene 17 protein; protein TRE17-alpha", "tax_id": 9606, "disease": "", "pathway": " (hsa:84218)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;12359748;16863688;21030649;35051231", "class_list": "", "function": "Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity)., [UniProtKB]; PRC17 is amplified in 15% of prostate cancers, it is highly overexpressed in approximately one-half of metastatic prostate tumors., [RefSeq, PubMed]; We describe eight highly related TBC1D3 paralogues located on Chromosome 17q12 that display specific transcription patterns in human tissues, and that pattern is altered in several primary prostate tumors in comparison to healthy prostate tissues., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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:0005096 GTPase activator activity", "go_cellular_component": "GO:0005768 endosome;GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A6NER0-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96CE8-1", "uniprot_id": [ { "id": "T4S18_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96CE8", "type": "external" } ], "mass": 22277.0, "length": 201, "protein_name": "Transmembrane 4 L6 family member 18", "gene_name": "TM4SF18", "organism": "Human", "refseq_name": "transmembrane 4 L6 family member 18", "refseq_ac": [ { "id": "NP_001171652", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171652", "type": "external" } ], "gene_names_uniprotkb": "TM4SF18", "gene_names_refseq": "L6D; TM4SF18", "protein_names_uniprotkb": "Transmembrane 4 L6 family member 18", "protein_names_refseq": "transmembrane 4 L6 family member 18", "tax_id": 9606, "disease": "", "pathway": " (hsa:116441)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;30897168;35051231;36209368", "class_list": "", "function": "Immune-related gene TM4SF18 could promote the metastasis of gastric cancer cells and predict the prognosis of gastric cancer patients., [RefSeq, PubMed]; TM4SF18 is highly expressed in pancreatic ductal adenocarcinoma (PDAC) tumor epithelium, expressed in normal acinar tissue and weakly expressed in normal ducts. Although there is minimal expression in normal ducts, study observed increased TM4SF18 levels in preneoplastic ducts and tumor epithelium. Knockdown of the TM4SF18 protein led to a significant decrease in Capan-1 cell growth. 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": "B2R8K0;D3DNH5", "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": "Q96CE8-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXR5-1", "uniprot_id": [ { "id": "TLR10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXR5", "type": "external" } ], "mass": 94564.0, "length": 811, "protein_name": "Toll-like receptor 10", "gene_name": "TLR10", "organism": "Human", "refseq_name": "toll-like receptor 10 isoform a precursor", "refseq_ac": [ { "id": "NP_001017388", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017388", "type": "external" } ], "gene_names_uniprotkb": "TLR10; PRO358", "gene_names_refseq": "CD290; TLR10", "protein_names_uniprotkb": "Toll-like receptor 10", "protein_names_refseq": "toll-like receptor 10 isoform a precursor", "tax_id": 9606, "disease": "asthma (Disease Ontology:DOID:2841); pulmonary tuberculosis (Disease Ontology:DOID:2957); glucose metabolism disease (Disease Ontology:DOID:4194); primary immunodeficiency disease (Disease Ontology:DOID:612); collagen disease (Disease Ontology:DOID:854)", "pathway": " (hsa:81793); (R-HSA-168142); (R-HSA-5603037); (R-HSA-975871)", "pathway_count": 4, "publication_count": 72, "publication_id_list": "11237011;11267672;11960013;12138165;12140561;12297423;12447442;12637671;12975309;14625308;15728506;16024789;17141195;17485511;17890055;17893200;18070982;18332149;18438411;18752252;18810425;19224918;19592493;19924287;20348427;20485341;20568250;22544926;23124277;23328677;24190977;24316379;24397554;24715725;25418920;25880248;26992070;27846572;27862975;28904123;29242379;29393594;29437277;29557506;29632046;30315122;30410026;31154438;31844290;31848261;32350084;32357974;32502341;32983136;33141586;33298915;33691108;33717175;33912179;33936100;34357683;34371177;34561969;34932366;35051231;35154160;35580925;36581221;37938771;38995177;8837778;9430229", "class_list": "", "function": "Analysis of chimeric receptors containing the TLR10 extracellular recognition domain indicates that human TLR10 cooperates with TLR2 in sensing of microbes and fungi but possesses a signaling function distinct from that of other TLR2 subfamily members., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Participates in the innate immune response to microbial agents. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response (By similarity)., [UniProtKB]; TLR10 (CD290) Is a Regulator of Immune Responses in Human Plasmacytoid Dendritic Cells., [RefSeq, PubMed]; The TLR10 structure is in good agreement with available biochemical data on TLR receptors and is likely to provide a good model for the physiological dimer., [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 (PAMPs) 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. This gene is most highly expressed in lymphoid tissues such as spleen, lymph node, thymus, and tonsil. Multiple alternatively spliced transcript variants which encode different protein isoforms have been found for this gene. [provided by RefSeq, Aug 2010]., [RefSeq]", "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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 45, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "A8K7L1;B3Y668;D1CS21;D1CS22;Q32MI7;Q32MI8;Q5FWG4;Q6UXL3", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0042802 identical protein binding;GO:0071723 lipopeptide binding;GO:0038023 signaling receptor activity;GO:0035663 Toll-like receptor 2 binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0043235 receptor complex", "go_biological_process": "GO:0071221 cellular response to bacterial lipopeptide;GO:0006954 inflammatory response;GO:0006955 immune response;GO:0045087 innate immune response;GO:0002224 toll-like receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q9BXR5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WUY1-1", "uniprot_id": [ { "id": "THEM6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WUY1", "type": "external" } ], "mass": 23865.0, "length": 208, "protein_name": "Protein THEM6", "gene_name": "THEM6", "organism": "Human", "refseq_name": "protein THEM6 isoform 1", "refseq_ac": [ { "id": "NP_057731", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057731", "type": "external" } ], "gene_names_uniprotkb": "THEM6; C8orf55; PSEC0098", "gene_names_refseq": "C8orf55; DSCD75; THEM6", "protein_names_uniprotkb": "Protein THEM6; Mesenchymal stem cell protein DSCD75; Thioesterase superfamily member 6", "protein_names_refseq": "UPF0670 protein C8orf55; UPF0670 protein THEM6; mesenchymal stem cell protein DSCD75; protein THEM6 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:51337)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "11237011;16303743;24275569;25576301;26621454;26992070;27862975;28510447;28832583;29242379;29557506;30429286;30779550;31611695;31844290;32157095;32350084;32488085;32938616;33298915;33936100;33968037;33981976;34019948;34357683;38081884", "class_list": "", "function": "THEM6 is a prognostic biomarker for breast cancer and is associated with immune infiltration. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B2RDN6;Q8NBN2;Q9NYI2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q8WUY1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q93075-1", "uniprot_id": [ { "id": "TATD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q93075", "type": "external" } ], "mass": 85023.0, "length": 761, "protein_name": "3'-5' RNA nuclease TATDN2", "gene_name": "TATDN2", "organism": "Human", "refseq_name": "3'-5' RNA nuclease TATDN2", "refseq_ac": [ { "id": "NP_055575", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055575", "type": "external" } ], "gene_names_uniprotkb": "TATDN2; KIAA0218", "gene_names_refseq": "TATDN2", "protein_names_uniprotkb": "3'-5' RNA nuclease TATDN2; 3.1.13.-; TatD DNase domain containing 2", "protein_names_refseq": "3'-5' RNA nuclease TATDN2; putative deoxyribonuclease TATDN2", "tax_id": 9606, "disease": "", "pathway": " (hsa:9797); (R-HSA-381038)", "pathway_count": 2, "publication_count": 51, "publication_id_list": "10601334;10827079;11237011;12204115;15302935;15466936;16461360;16539657;18664523;18669648;18954468;20800603;20934997;21282569;24129315;24715725;25418920;25576301;25892735;26375851;26992070;28411811;28832583;28834231;28904123;29242379;29351928;29393594;29493099;29769354;29786170;31217245;31844290;31848261;32157095;32502341;32938616;32983136;33298915;33633747;33968037;34171305;35051231;35580925;37217939;37953292;7590364;8666242;9037597;9450183;9473480", "class_list": "", "function": "Describes transcription of the non-coding RNA GHRLOS, including potential read-through transcription from the TATDN2 locus. Publication Status: Online-Only, [RefSeq, PubMed]; Mg(2+)-dependent 3'RNA exonuclease and endonuclease that resolves R-loops via specific degradation of R-loop RNA structure (PubMed:37953292). Shows no activity against D-loop and minimal activity against the RNA strand of an RNA-DNA hybrid duplex oligomer. Has no 3' or 5' exonuclease activity, no uracil glycosylase activity, and no 5' flap endonuclease activity on DNA substrates (PubMed:37953292). May have a role in maintaining genomic stability through its role in R-loop resolution (PubMed:37953292)., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; TATDN2 resolution of R-loops is required for survival of BRCA1-mutant 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": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 22, "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": "Q3MIL9;Q5BKU0", "ec_number_list": [ { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0004527 exonuclease activity;GO:0016788 hydrolase activity, acting on ester bonds", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q93075-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43680-1", "uniprot_id": [ { "id": "TCF21_HUMAN", "url": "https://www.uniprot.org/uniprot/O43680", "type": "external" } ], "mass": 19715.0, "length": 179, "protein_name": "Transcription factor 21", "gene_name": "TCF21", "organism": "Human", "refseq_name": "transcription factor 21", "refseq_ac": [ { "id": "NP_003197", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003197", "type": "external" } ], "gene_names_uniprotkb": "TCF21; BHLHA23; POD1", "gene_names_refseq": "POD1; TCF21; bHLHa23", "protein_names_uniprotkb": "Transcription factor 21; Capsulin; Class A basic helix-loop-helix protein 23; Epicardin; Pod-1; Podocyte-expressed 1; TCF-21; bHLHa23", "protein_names_refseq": "capsulin; class A basic helix-loop-helix protein 23; epicardin; pod-1; podocyte-expressed 1; transcription factor 21", "tax_id": 9606, "disease": "ventricular septal defect (Disease Ontology:DOID:1657); coronary artery disease (Disease Ontology:DOID:3393)", "pathway": " (hsa:6943)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "10572052;24714562;28063628;28228285;28855257;28904123;29557506;29789417;30315122;30429286;31844290;32357974;33717175;33912179;34185709;35051231;35580925;35603952;36284347;36581221;36997664;37391023;38197316;38250610;9733105", "class_list": "", "function": "Involved in epithelial-mesenchymal interactions in kidney and lung morphogenesis that include epithelial differentiation and branching morphogenesis. May play a role in the specification or differentiation of one or more subsets of epicardial cell types., [UniProtKB]; N-type calcium channel v2.2 is a target of TCF21 in adrenocortical carcinomas., [RefSeq, PubMed]; TCF21 encodes a transcription factor of the basic helix-loop-helix family. The TCF21 product is mesoderm specific, and expressed in embryonic epicardium, mesenchyme-derived tissues of lung, gut, gonad, and both mesenchymal and glomerular epithelial cells in the kidney. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; TCF21 rs2327429 and TCF21 rs12190287 are associated with colorectal cancer in a Chinese population., [RefSeq, PubMed]; Transcription factor 21 accelerates vascular calcification in mice by activating the IL-6/STAT3 signaling pathway and the interplay between VSMCs and ECs., [RefSeq, PubMed]; Transcription factor 21 gene and prognosis in a coronary population., [RefSeq, PubMed]; Transcription factor 21 rs12190287 polymorphism is related to stable angina and ST elevation myocardial infarction in a Chinese Population. 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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "E1P581;O43545;Q6ICV0;Q9BZ14", "ec_number_list": [], "go_molecular_function": "GO:0046983 protein dimerization activity;GO:0042826 histone deacetylase 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:0000981 DNA-binding transcription factor 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:0007530 sex determination;GO:0060435 bronchiole development;GO:0072162 metanephric mesenchymal cell differentiation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "O43680-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95988-1", "uniprot_id": [ { "id": "TCL1B_HUMAN", "url": "https://www.uniprot.org/uniprot/O95988", "type": "external" } ], "mass": 14846.0, "length": 128, "protein_name": "T-cell leukemia/lymphoma protein 1B", "gene_name": "TCL1B", "organism": "Human", "refseq_name": "T-cell leukemia/lymphoma protein 1B", "refseq_ac": [ { "id": "NP_004909", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004909", "type": "external" } ], "gene_names_uniprotkb": "TCL1B; TCL1", "gene_names_refseq": "SYN-1; TCL1B; TML1", "protein_names_uniprotkb": "T-cell leukemia/lymphoma protein 1B; Oncogene TCL-1B; Oncogene TCL1B; SYN-1; Syncytiotrophoblast-specific protein; TCL1/MTCP1-like protein 1", "protein_names_refseq": "T cell leukemia/lymphoma 1B; T-cell leukemia/lymphoma protein 1B; T-cell lymphoma/leukemia 1B; TCL1/ MTCP1-like 1; oncogene TCL-1B; syncytiotrophoblast-specific protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:9623)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "10077617;10344735;10983986;11707444;20228224;20800603", "class_list": "", "function": "Enhances the phosphorylation and activation of AKT1 and AKT2., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Subcellular localization of activated AKT is dependent on TCL1B expression in estrogen receptor- and progesterone receptor-expressing breast cancer, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A6NEK7;Q6IAR7;Q9UBQ4", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0043539 protein serine/threonine kinase activator activity", "go_cellular_component": "", "go_biological_process": "GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "O95988-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01848-1", "uniprot_id": [ { "id": "TRAC_HUMAN", "url": "https://www.uniprot.org/uniprot/P01848", "type": "external" } ], "mass": 15717.0, "length": 140, "protein_name": "T cell receptor alpha chain constant", "gene_name": "TRAC", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRAC; TCRA", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor alpha chain constant", "protein_names_refseq": "", "tax_id": 9606, "disease": "immunodeficiency 7 (Disease Ontology:DOID:0111977)", "pathway": " (R-HSA-198933); (R-HSA-202424); (R-HSA-202427); (R-HSA-202430); (R-HSA-202433); (R-HSA-389948)", "pathway_count": 6, "publication_count": 182, "publication_id_list": "10499918;10671560;10698680;10716940;10746781;10747096;10790433;10811803;11048639;11237011;11265639;11358993;11390650;11489943;11513152;11556966;11607830;11752630;11807247;11827988;11857637;11858820;11861603;11884229;11955593;11955595;11955599;12213321;12429093;12473184;12483297;12485116;12588680;12660731;12796775;12893276;12938237;12947224;14510693;14514672;14719373;14970179;15034010;15040585;15084594;15122200;15125833;15136729;15145317;15155468;15187158;15304001;15358536;15371334;15489910;15489916;15534202;15541655;15541657;15580655;15607800;15778510;15781451;15800062;15851719;15864273;16014749;16056267;16079912;16091383;16129954;16339513;16356853;16356855;16364187;16380601;16461343;16551255;16612002;16737824;16754721;16893496;16904340;16928187;16978534;17045824;17047224;17057721;17072321;17135271;17237375;17337780;17363905;17468049;17496917;17548359;17652306;17728323;18031695;18037897;18055229;18173375;18209062;18234675;18593354;18759926;19149696;19349973;19359216;19592130;20346773;20452950;20730098;21154117;21206088;21241660;21543337;21800138;21841309;21877119;22396535;22426112;22645359;23302904;23524462;23580664;23695528;23929856;24305946;24600447;24715725;2530588;25493333;25703557;25716998;26154972;26284469;26300885;26992070;27791034;27862975;28165004;28265006;28904123;29493099;29557506;29863979;30410026;30429286;30522017;31217245;31313098;31844290;32357974;32502341;32561536;33141586;36284347;3873654;3875483;7479848;7531291;7542404;7565724;8178173;8520027;8550590;8601309;8798379;8824201;8995416;9115214;9252186;9285412;9314561;9362451;9687533;9700512;9730896;9846482;9850860;9990853", "class_list": "", "function": "Constant region of T cell receptor (TR) alpha chain (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn, ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 2, "reported_glycation": 0, "reported_snv": 0, "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": "A0A087WWC6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0042105 alpha-beta T cell receptor complex;GO:0042101 T cell receptor complex", "go_biological_process": "GO:0046631 alpha-beta T cell activation;GO:0050852 T cell receptor signaling pathway;GO:0009617 response to bacterium;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 18.6, "record_id": "P01848-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0CG34-1", "uniprot_id": [ { "id": "TB15A_HUMAN", "url": "https://www.uniprot.org/uniprot/P0CG34", "type": "external" } ], "mass": 5229.0, "length": 45, "protein_name": "Thymosin beta-15A", "gene_name": "TMSB15A", "organism": "Human", "refseq_name": "thymosin beta-15A", "refseq_ac": [ { "id": "NP_068832", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068832", "type": "external" } ], "gene_names_uniprotkb": "TMSB15A; TMSL8; TMSNB", "gene_names_refseq": "TMSB15A; TMSB15; TMSL8; TMSNB; Tb15; TbNB", "protein_names_uniprotkb": "Thymosin beta-15A; NB thymosin beta; Thymosin-like protein 8", "protein_names_refseq": "thymosin beta-15A; thymosin, beta, identified in neuroblastoma cells; thymosin-like 8; thymosin-like protein 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:11013)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "12665801;17888914;18452710;18754322;19296525;23079573;8946830;9039501", "class_list": "", "function": "Findings suggest that increased thymosin beta15 expression correlates with the progression and metastasis of non-small cell lung cancer, [RefSeq, PubMed]; Human thymosin beta neuroblastoma has a higher affinity for actin in comparison to thymosin beta4 and promotes cell migration., [RefSeq, PubMed]; Identification of thymosin beta15, the rat homolog of human thymosin beta 15/thymosin beta NB/thymosin-like 8. Thymosin beta15 levels increase in human prostate cancer, correlating positively with Gleason tumor grade., [RefSeq, PubMed]; Our data show that the TMSB15A and TMSB15B isoforms have distinct expression patterns in different tumor cell lines and tissues., [RefSeq, PubMed]; Plays an important role in the organization of the cytoskeleton. Binds to and sequesters actin monomers (G actin) and therefore inhibits actin polymerization., [UniProtKB, UniProtKB]; Thymosin beta 15A (TMSB15A) is a predictor of chemotherapy response in triple-negative breast cancer., [RefSeq, PubMed]; Thymosin beta15 (Tbeta15) was translocated into nuclei following kainic acid (KA) treatments in a subset of entorhinal cortex neurons which are the population that undergo delayed apoptosis after KA treatment., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A8K614;Q99406", "ec_number_list": [], "go_molecular_function": "GO:0003785 actin monomer binding;GO:0140311 protein sequestering activity", "go_cellular_component": "GO:0031941 filamentous actin", "go_biological_process": "GO:0007015 actin filament organization;GO:0030334 regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "P0CG34-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DJG4-1", "uniprot_id": [ { "id": "SMA2L_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DJG4", "type": "external" } ], "mass": 53028.0, "length": 465, "protein_name": "Sperm microtubule associated protein 2-like", "gene_name": "SPMAP2L", "organism": "Human", "refseq_name": "sperm microtubule associated protein 2-like", "refseq_ac": [ { "id": "NP_001243404", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243404", "type": "external" } ], "gene_names_uniprotkb": "SPMAP2L; THEGL", "gene_names_refseq": "SPMAP2L; THEGL", "protein_names_uniprotkb": "Sperm microtubule associated protein 2-like; Testicular haploid expressed gene protein-like; Theg spermatid-like protein", "protein_names_refseq": "sperm microtubule associated protein 2-like; testicular haploid expressed gene protein-like; theg spermatid protein like; theg spermatid-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:100506564)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "28904123;32157095;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": 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": 0.7, "record_id": "P0DJG4-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DP42-1", "uniprot_id": [ { "id": "T225B_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DP42", "type": "external" } ], "mass": 25027.0, "length": 221, "protein_name": "Transmembrane protein 225B", "gene_name": "TMEM225B", "organism": "Human", "refseq_name": "transmembrane protein 225B", "refseq_ac": [ { "id": "NP_001182470", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182470", "type": "external" } ], "gene_names_uniprotkb": "TMEM225B", "gene_names_refseq": "GS1-259H13.2; TMEM225B", "protein_names_uniprotkb": "Transmembrane protein 225B", "protein_names_refseq": "transmembrane protein 225-like; transmembrane protein 225B", "tax_id": 9606, "disease": "", "pathway": " (hsa:100289187)", "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": "P0DP42-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51854-3", "uniprot_id": [ { "id": "TKTL1_HUMAN", "url": "https://www.uniprot.org/uniprot/P51854", "type": "external" } ], "mass": 65333.0, "length": 596, "protein_name": "Transketolase-like protein 1", "gene_name": "TKTL1", "organism": "Human", "refseq_name": "transketolase-like protein 1 isoform c", "refseq_ac": [ { "id": "NP_001139406", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139406", "type": "external" } ], "gene_names_uniprotkb": "TKTL1; TKR; TKT2", "gene_names_refseq": "TKR; TKT2; TKTL1", "protein_names_uniprotkb": "Transketolase-like protein 1; 2.2.1.1; TK 2; Transketolase 2; Transketolase-related protein", "protein_names_refseq": "TK 2; transketolase-2; transketolase-like protein 1 isoform c; transketolase-related protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:8277)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "15991799;16465194;16969476;17321041;26992070;28832583;29557506;29632711;32157095;32387766;33109565;33141586;33326930;33392160;34509645;35051231;35408935;36074851;37378867;8838793", "class_list": "", "function": "Apo10 and TKTL1 in blood macrophages as biomarkers for differentiating lung cancer from benign lung lesions: a comparative study with conventional biomarkers., [RefSeq, PubMed]; Catalyzes the transfer of a two-carbon ketol group from a ketose donor to an aldose acceptor, via a covalent intermediate with the cofactor thiamine pyrophosphate (By similarity). Thus, catalyzes the reversible transfer of a two-carbon ketol group from sedoheptulose-7-phosphate to glyceraldehyde-3-phosphate, producing xylulose-5-phosphate and ribose-5-phosphate (By similarity). The phosphate group of the substrate plays a role in stabilizing the substrate-thiamine intermediate while preventing the formation of the reactive enamine intermediate (By similarity). Can also use fructose-6-phosphate as a ketose donor (By similarity)., [UniProtKB, UniProtKB]; CircDUSP16 Contributes to Cell Development in Esophageal Squamous Cell Carcinoma by Regulating miR-497-5p/TKTL1 Axis., [RefSeq, PubMed]; Demonstrate the presence of a second transketolase enzyme (TKTL1) in humans. This protein and its mutations and clinical implications are characterized., [RefSeq, PubMed]; During fetal neocortex development, may be essential to maintain the full number of basal radial glia (bRG). bRG are neural progenitor cells that undergo asymmetric divisions, generating a bRG (self-renewal) and a neuron, in contrast to basal intermediate progenitors (bIPs), which typically divide once to give rise to 2 neurons. bRG generate more cortical neurons over time than bIPs., [UniProtKB, PubMed]; Findings strongly indicate that overexpression of TKTL1 is responsible for observed tumor-specific effects of transketolase enzyme reactions, [RefSeq, PubMed]; Human TKTL1 implies greater neurogenesis in frontal neocortex of modern humans than Neanderthals., [RefSeq, PubMed]; TKTL1 Knockdown Impairs Hypoxia-Induced Glucose-6-phosphate Dehydrogenase and Glyceraldehyde-3-phosphate Dehydrogenase Overexpression. Publication Status: Online-Only, [RefSeq, PubMed]; TKTL1 upregulation is a common phenomenon in gastric cancer and cancer of the gastroesophageal junction leading to an enhanced, oxygen-independent glucose usage which might contribute to a more aggressive tumor growth, [RefSeq, PubMed]; The protein encoded by this gene is a transketolase that acts as a homodimer and catalyzes the conversion of sedoheptulose 7-phosphate and D-glyceraldehyde 3-phosphate to D-ribose 5-phosphate and D-xylulose 5-phosphate. This reaction links the pentose phosphate pathway with the glycolytic pathway. Variations in this gene may be the cause of Wernicke-Korsakoff syndrome. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]., [RefSeq]; These results indicate that TKTL1 gene influences total transketolase activity and cell proliferation in human hepatoma cells. GeneRIF: RNAi-mediated suppression of TKTL1 in hepatoma cells significantly reduces total transketolase activity and inhibits proliferation. Findings suggest that TKTL1 plays an important role in glycometabolism and cell cycle progression in tumors., [RefSeq, PubMed]; Use of AKR1C1 and TKTL1 in the Diagnosis of Low-grade Squamous Intraepithelial Lesions from Mexican Women., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A8K896;Q5TYJ8;Q5TYJ9;Q8TC75", "ec_number_list": [ { "id": "2.2.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.2.1.1", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0030976 thiamine pyrophosphate binding;GO:0004802 transketolase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0006772 thiamine metabolic process;GO:0006007 glucose catabolic process", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "P51854-3", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14DG7-1", "uniprot_id": [ { "id": "T132B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14DG7", "type": "external" } ], "mass": 119477.0, "length": 1078, "protein_name": "Transmembrane protein 132B", "gene_name": "TMEM132B", "organism": "Human", "refseq_name": "transmembrane protein 132B isoform b", "refseq_ac": [ { "id": "NP_001273148", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273148", "type": "external" } ], "gene_names_uniprotkb": "TMEM132B; KIAA1786; KIAA1906", "gene_names_refseq": "TMEM132B", "protein_names_uniprotkb": "Transmembrane protein 132B", "protein_names_refseq": "transmembrane protein 132B isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:114795)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "10.1101/2023.09.13.557529;11237011;24190977;25645385;25803036;27600516;29557506;31844290;32157095;32161166;32387766;32488085;33592498;34509645;35051231;35561310;35580925;36010968", "class_list": "", "function": "TMEM132B is differentially expressed in intracranial aneurysm samples as compared to controls. 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": 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": 45, "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": "A2RRG8;Q8NA73;Q96JN9;Q96PY1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q14DG7-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15814-1", "uniprot_id": [ { "id": "TBCC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15814", "type": "external" } ], "mass": 39248.0, "length": 346, "protein_name": "Tubulin-specific chaperone C", "gene_name": "TBCC", "organism": "Human", "refseq_name": "tubulin-specific chaperone C", "refseq_ac": [ { "id": "NP_003183", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003183", "type": "external" } ], "gene_names_uniprotkb": "TBCC", "gene_names_refseq": "CFC; TBCC", "protein_names_uniprotkb": "Tubulin-specific chaperone C; CFC; Tubulin-folding cofactor C", "protein_names_refseq": "tubulin-specific chaperone C", "tax_id": 9606, "disease": "", "pathway": " (hsa:6903); (R-HSA-389977)", "pathway_count": 2, "publication_count": 52, "publication_id_list": "10831612;11847227;12417528;18669648;19413330;20068231;20384997;20740604;22028797;22100072;22223895;23186163;23481700;25576301;25645385;26154972;26992070;27600516;27846572;28832583;28834231;29242379;29393594;29557506;29786170;30429286;30779550;31154438;31844290;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33936100;33968037;33981976;34087483;34509645;35051231;35318648;36010968;36241641;38665916;39531497;8706133;9265649", "class_list": "", "function": "A testable model for TBCC N-terminal domain/tubulin recognition in which the highly charged N-terminus as well as residues from the three helices and the loops interact with the acidic hypervariable regions of tubulin monomers, [RefSeq, PubMed]; Cofactor C is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. [provided by RefSeq, Jul 2008]., [RefSeq]; Functional overlap with retinitis pigmenosa 2 protein, [RefSeq, PubMed]; Microtubule dynamicity was reduced in breast cancer cells overexpressing TBCC. Cell cycle distribution was altered in cells containing larger amounts of TBCC. TBCC had little effect on cell proliferation. Publication Status: Online-Only, [RefSeq, PubMed]; Tubulin-folding protein; involved in the final step of the tubulin folding 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q53Y43;Q5T787", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005096 GTPase activator activity;GO:0051087 protein-folding chaperone binding;GO:0015631 tubulin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005874 microtubule;GO:0032391 photoreceptor connecting cilium", "go_biological_process": "GO:0006457 protein folding;GO:0007021 tubulin complex assembly;GO:0007023 post-chaperonin tubulin folding pathway", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q15814-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q69YZ2-1", "uniprot_id": [ { "id": "T200B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q69YZ2", "type": "external" } ], "mass": 32750.0, "length": 307, "protein_name": "Transmembrane protein 200B", "gene_name": "TMEM200B", "organism": "Human", "refseq_name": "transmembrane protein 200B", "refseq_ac": [ { "id": "NP_001003682", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003682", "type": "external" } ], "gene_names_uniprotkb": "TMEM200B; TTMB", "gene_names_refseq": "TMEM200B; TTMB", "protein_names_uniprotkb": "Transmembrane protein 200B; Transmembrane protein TTMA; Two transmembrane domain-containing family member B", "protein_names_refseq": "transmembrane protein 200B; transmembrane protein TTMA; two transmembrane B; two transmembrane domain-containing family member B", "tax_id": 9606, "disease": "", "pathway": " (hsa:399474)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "29242379;32938616;33968037;34932366;35051231", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q6P2G8;Q6P2Q5", "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": "Q69YZ2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6IPX1-1", "uniprot_id": [ { "id": "TBC3C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6IPX1", "type": "external" } ], "mass": 62187.0, "length": 549, "protein_name": "TBC1 domain family member 3C", "gene_name": "TBC1D3C", "organism": "Human", "refseq_name": "TBC1 domain family member 3C", "refseq_ac": [ { "id": "NP_001001418", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001418", "type": "external" } ], "gene_names_uniprotkb": "TBC1D3C; TBC1D3D", "gene_names_refseq": "PRC17; TBC1D3A; TBC1D3C; TBC1D3", "protein_names_uniprotkb": "TBC1 domain family member 3C", "protein_names_refseq": "Prostate cancer gene 17 protein; Protein TRE17-alpha; Rab GTPase-activating protein PRC17; TBC1 domain family member 3C-like protein ENSP00000341742; TBC1 domain family member 3C/3D; TBC1 domain family member 3C", "tax_id": 9606, "disease": "", "pathway": " (hsa:101060321); (hsa:414060); (hsa:729873)", "pathway_count": 3, "publication_count": 5, "publication_id_list": "12604796;16863688;21030649;28422741;39467635", "class_list": "", "function": "Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity)., [UniProtKB]; Decoupling actin assembly from microtubule disassembly by TBC1D3C-mediated direct GEF-H1 activation. Publication Status: Online-Only, [RefSeq, PubMed]; The Tre2 (USP6) oncogene is derived from the chimeric fusion of two genes, USP32 (NY-REN-60), and TBC1D3., [RefSeq, PubMed]; This gene represents one of a cluster of related genes found on chromosome 17. The proteins encoded by this gene family contain a TBC (Tre-2, Bub2p, and Cdc16p) domain and may be involved in GTPase signaling and vesicle trafficking. [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": 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": "", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005768 endosome;GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q6IPX1-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6IPX3-1", "uniprot_id": [ { "id": "TCAL6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6IPX3", "type": "external" } ], "mass": 22298.0, "length": 200, "protein_name": "Transcription elongation factor A protein-like 6", "gene_name": "TCEAL6", "organism": "Human", "refseq_name": "transcription elongation factor A protein-like 6 isoform 1", "refseq_ac": [ { "id": "NP_001354719", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001354719", "type": "external" } ], "gene_names_uniprotkb": "TCEAL6", "gene_names_refseq": "TCEAL6; WEX2", "protein_names_uniprotkb": "Transcription elongation factor A protein-like 6; TCEA-like protein 6; Transcription elongation factor S-II protein-like 6", "protein_names_refseq": "TCEA-like protein 6; transcription elongation factor A (SII)-like 6; transcription elongation factor A protein-like 6 isoform 1; transcription elongation factor A protein-like 6; transcription elongation factor S-II protein-like 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:158931)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "34278492", "class_list": "", "function": "Hsa_circ_0101119 facilitates the progression of cervical cancer via an interaction with EIF4A3 to inhibit TCEAL6 expression., [RefSeq, PubMed]; 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": 2, "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": "Q5H9J8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q6IPX3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZT07-1", "uniprot_id": [ { "id": "TBCD9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZT07", "type": "external" } ], "mass": 143229.0, "length": 1266, "protein_name": "TBC1 domain family member 9", "gene_name": "TBC1D9", "organism": "Human", "refseq_name": "TBC1 domain family member 9", "refseq_ac": [ { "id": "NP_055945", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055945", "type": "external" } ], "gene_names_uniprotkb": "TBC1D9; KIAA0882; TBC1D9A", "gene_names_refseq": "GRAMD9; MDR1; TBC1D9", "protein_names_uniprotkb": "TBC1 domain family member 9; TBC1 domain family member 9A", "protein_names_refseq": "TBC1 domain family member 9A; TBC1 domain family member 9; TBC1 domain family, member 9 (with GRAM domain)", "tax_id": 9606, "disease": "nephrotic syndrome type 20 (Disease Ontology:DOID:0070357)", "pathway": " (hsa:23158)", "pathway_count": 1, "publication_count": 53, "publication_id_list": "16355344;18228020;19077034;22296392;24715725;25418920;25542144;25645385;25880248;27846572;27862975;27920218;28218747;28832583;28834231;29393594;29557506;29632711;29786170;30315122;30410026;30429286;30779550;31154438;31217245;31844290;31848261;32034138;32157095;32357974;32387766;32502341;32938616;32983136;33123756;33141586;33298915;33592498;33912179;33936100;33968037;33981976;34087483;34171305;34509645;34932366;35051231;35154160;35318648;35580925;36241641;36284347;37938771", "class_list": "", "function": "CD34+ leukemic subpopulation predominantly displays lower spontaneous apoptosis and has higher expression levels of MDR19TBC1 domain family member 9 (with GRAM domain) ) genes than CD34- cells in childhood AML, [RefSeq, PubMed]; May act as a GTPase-activating protein for Rab family protein(s)., [UniProtKB]; Plasma levels of atazanavir were significantly higher in patients with MDR1 genotype CC than in those with CT or TT, and bilirubin levels correlated with atazanavir concentrations., [RefSeq, PubMed]; TBC1D9 controls TBK1 activation during xenophagy and mitophagy through Ca(2+)-dependent ubiquitin-recognition.TBC1D9 is involved in TBK1 phosphorylation. Publication Status: Online-Only, [RefSeq, PubMed]; The MDR1 gene CT/TT genotype of C3435T was significantly associated with a shorter progression-free survival (PFS) and overall survival (OS)., [RefSeq, PubMed]; This study concluded that diindolylmethane induces pregnane X receptor -regulated CYP3A4 and MDR1 gene 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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6H8U8;D3DNZ1;O94958", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0005509 calcium ion binding", "go_cellular_component": "", "go_biological_process": "GO:0003008 system process", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q6ZT07-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86YL5-1", "uniprot_id": [ { "id": "TDRP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86YL5", "type": "external" } ], "mass": 20403.0, "length": 185, "protein_name": "Testis development-related protein", "gene_name": "TDRP", "organism": "Human", "refseq_name": "testis development-related protein isoform 2", "refseq_ac": [ { "id": "NP_001243042", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243042", "type": "external" } ], "gene_names_uniprotkb": "TDRP; C8orf42", "gene_names_refseq": "C8orf42; Inm01; TDRP1; TDRP2; TDRP", "protein_names_uniprotkb": "Testis development-related protein; Protein INM01", "protein_names_refseq": "testis development-related protein isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:157695)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "15163304;20170638;24667176;27069551;28832583;29393594;29557506;30429286;31682009;32157095;34171305;34185709;35051231;37938771;39894887", "class_list": "", "function": "Contributes to normal sperm motility, but not essential for male fertility., [UniProtKB, UniProtKB]; Single nucleotide polymorphisms on genetic loci SOD2, MBP and C8orf42were not found significantly associated with advanced age-related macular degeneration in a Chinese cohort Publication Status: Online-Only, [RefSeq, PubMed]; TDRP expression in healthy human palatal mucosa is strongly negatively correlated with serum cotinine levels, [RefSeq, PubMed]; These current data demonstrated that as a nuclear factor, TDRP1 might play an important role in spermatogenesis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B6VF03;B9EG53", "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:0007283 spermatogenesis", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q86YL5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IUE1-1", "uniprot_id": [ { "id": "TF2LX_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IUE1", "type": "external" } ], "mass": 26675.0, "length": 241, "protein_name": "Homeobox protein TGIF2LX", "gene_name": "TGIF2LX", "organism": "Human", "refseq_name": "homeobox protein TGIF2LX", "refseq_ac": [ { "id": "NP_620410", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_620410", "type": "external" } ], "gene_names_uniprotkb": "TGIF2LX; TGIFLX", "gene_names_refseq": "TGIF2LX; TGIFLX", "protein_names_uniprotkb": "Homeobox protein TGIF2LX; TGF-beta-induced transcription factor 2-like protein; TGFB-induced factor 2-like protein, X-linked; TGIF-like on the X", "protein_names_refseq": "TGF-beta-induced transcription factor 2-like protein; TGFB-induced factor 2-like protein, X-linked; TGFB-induced factor 2-like, X-linked; TGIF-like on the X; homeobox protein TGIF2LX", "tax_id": 9606, "disease": "", "pathway": " (hsa:90316)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "12226713;18384077;18663611;29485866;29557506;29960902;33091337;35494241;36510989", "class_list": "", "function": "Association of TGIFLX/Y mRNA expression with azoospermia in infertile men.(, [RefSeq, PubMed]; May have a transcription role in testis., [UniProtKB]; Most prostate tumors (73.5%) express at least one of these genes (TGIFLX and TGIFLY), although different patterns of mRNA expression were observed. These results suggest an association of TGIFLX/Y expression with the progression of prostate cancer., [RefSeq, PubMed]; Regulation of long non-coding RNAs XIST and ROR induced by homeodomain protein TGIF2LX in colorectal cancer., [RefSeq, PubMed]; This gene encodes a member of the TALE/TGIF homeobox family of transcription factors. Testis-specific expression suggests that this gene may play a role in spermatogenesis. A homolog of this gene lies within the male specific region of chromosome Y, in a block of sequence that is thought to be the result of a large X-to-Y transposition. [provided by RefSeq, Jul 2008]., [RefSeq]; To the best of our knowledge, this is the first report that proposes Nir1, Nir2, and Fhit genes might be regulated by homeodomain protein TGIF2LX in colorectal adenocarcinoma 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": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5JRM9;Q8TD48", "ec_number_list": [], "go_molecular_function": "GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q8IUE1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N4L1-1", "uniprot_id": [ { "id": "T151A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N4L1", "type": "external" } ], "mass": 51278.0, "length": 468, "protein_name": "Transmembrane protein 151A", "gene_name": "TMEM151A", "organism": "Human", "refseq_name": "transmembrane protein 151A", "refseq_ac": [ { "id": "NP_694998", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_694998", "type": "external" } ], "gene_names_uniprotkb": "TMEM151A; TMEM151", "gene_names_refseq": "DYT36; EKD3; TMEM151A; TMEM151", "protein_names_uniprotkb": "Transmembrane protein 151A", "protein_names_refseq": "transmembrane protein 151A; transmembrane protein 151", "tax_id": 9606, "disease": "episodic kinesigenic dyskinesia 3 (Disease Ontology:DOID:0060944)", "pathway": " (hsa:256472)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "28228285;31844290;34518509;34711800;34820915;35083789;35587630;35727387;36724570;36856871;38253038;39454747", "class_list": "", "function": "Features Differ Between Paroxysmal Kinesigenic Dyskinesia Patients with PRRT2 and TMEM151A Variants., [RefSeq, PubMed]; TMEM151A Variants Cause Paroxysmal Kinesigenic Dyskinesia: A Large-Sample Study., [RefSeq, PubMed]; TMEM151A as an alternative to PRRT2 in paroxysmal kinesigenic dyskinesia: About three new cases., [RefSeq, PubMed]; TMEM151A variants associated with paroxysmal kinesigenic dyskinesia., [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": 18, "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": "Q8ND14", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0030424 axon;GO:0030425 dendrite;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q8N4L1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q969F1-1", "uniprot_id": [ { "id": "TF3C6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q969F1", "type": "external" } ], "mass": 24049.0, "length": 213, "protein_name": "General transcription factor 3C polypeptide 6", "gene_name": "GTF3C6", "organism": "Human", "refseq_name": "general transcription factor 3C polypeptide 6", "refseq_ac": [ { "id": "NP_612417", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_612417", "type": "external" } ], "gene_names_uniprotkb": "GTF3C6; C6orf51; CDA020; NPD020", "gene_names_refseq": "C6orf51; GTF3C6; TFIIIC35; bA397G5.3", "protein_names_uniprotkb": "General transcription factor 3C polypeptide 6; TFIIIC 35 kDa subunit; TFIIIC35; Transcription factor IIIC 35 kDa subunit; Transcription factor IIIC subunit 6", "protein_names_refseq": "TFIIIC 35 kDa subunit; general transcription factor 3C polypeptide 6; general transcription factor IIIC, polypeptide 6, alpha 35kDa; transcription factor IIIC 35 kDa subunit; transcription factor IIIC 35kDa; transcription factor IIIC subunit 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:112495); (R-HSA-749476); (R-HSA-76061); (R-HSA-76066)", "pathway_count": 4, "publication_count": 28, "publication_id_list": "11419933;12381659;17409385;1946469;21406692;23481700;2404611;28514659;28832583;28904123;29632711;31844290;32502341;32938616;32983136;33633747;33912179;33936100;34171305;35561310;35580925;39894887;7568218;7995525;8407894;8423814;9171375;9312031", "class_list": "", "function": "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, PubMed]; RNA polymerases are unable to initiate RNA synthesis in the absence of additional proteins called general transcription factors (GTFs). GTFs assemble in a complex on the DNA promoter and recruit the RNA polymerase. GTF3C family proteins (e.g., GTF3C1, MIM 603246) are essential for RNA polymerase III to make a number of small nuclear and cytoplasmic RNAs, including 5S RNA (MIM 180420), tRNA, and adenovirus-associated (VA) RNA of both cellular and viral origin.[supplied by OMIM, Mar 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q5VXN2", "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:0016604 nuclear body", "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": 3.1, "record_id": "Q969F1-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96BN2-1", "uniprot_id": [ { "id": "TADA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96BN2", "type": "external" } ], "mass": 37382.0, "length": 335, "protein_name": "Transcriptional adapter 1", "gene_name": "TADA1", "organism": "Human", "refseq_name": "transcriptional adapter 1", "refseq_ac": [ { "id": "NP_444281", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_444281", "type": "external" } ], "gene_names_uniprotkb": "TADA1; TADA1L", "gene_names_refseq": "ADA1; HFI1; STAF42; TADA1L; TADA1; hADA1", "protein_names_uniprotkb": "Transcriptional adapter 1; SPT3-associated factor 42; STAF42; Transcriptional adapter 1-like protein", "protein_names_refseq": "SPT3-associated factor 42 (STAF42); transcriptional adapter 1-like protein; transcriptional adapter 1; transcriptional adaptor 1 (HFI1 homolog, yeast)", "tax_id": 9606, "disease": "", "pathway": " (hsa:117143); (R-HSA-3214847)", "pathway_count": 2, "publication_count": 79, "publication_id_list": "10786633;10821277;11564863;15313887;16387653;18381289;18623064;19064610;19187765;19536175;20018852;21872626;21993680;22287124;23481700;24366607;24714562;25418920;25505266;25576301;25645385;26375851;26728094;26758079;26992070;27600516;27920218;28218747;28228285;28649982;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29786170;30315122;30410026;30429286;30833945;31154438;31217245;31222486;31530632;31844290;31998317;32157095;32265295;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33392160;33592498;33691108;33912179;33936100;33968037;34087483;34171305;34932366;35051231;35494241;35561310;35580925;36010968;36241641;36284347;9427644;9558366;9880483", "class_list": "", "function": "Differences between mother and fetus in ADA(1) phenotype may influence the ratio BW/PW in healthy women and reproductive success in RSA women., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Probably involved in transcriptional regulation., [UniProtKB]; TADA1L is a protein subunit of the human STAGA complex (SPT3; (MIM 602947)/TAF9 (MIM 600822)/GCN5 (MIM 602301) acetyltransferase complex), which is a chromatin-modifying multiprotein complex (Martinez et al., 2001 [PubMed 11564863]).[supplied by OMIM, Apr 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": 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": "A8K4J9", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000124 SAGA complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045893 positive regulation of DNA-templated transcription;GO:0043484 regulation of RNA splicing;GO:0006282 regulation of DNA repair", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q96BN2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96BZ9-1", "uniprot_id": [ { "id": "TBC20_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96BZ9", "type": "external" } ], "mass": 45855.0, "length": 403, "protein_name": "TBC1 domain family member 20", "gene_name": "TBC1D20", "organism": "Human", "refseq_name": "TBC1 domain family member 20", "refseq_ac": [ { "id": "NP_653229", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_653229", "type": "external" } ], "gene_names_uniprotkb": "TBC1D20; C20orf140", "gene_names_refseq": "C20orf140; TBC1D20; WARBM4", "protein_names_uniprotkb": "TBC1 domain family member 20", "protein_names_refseq": "TBC1 domain family member 20", "tax_id": 9606, "disease": "Warburg micro syndrome 4 (Disease Ontology:DOID:0110719)", "pathway": " (hsa:128637); (R-HSA-204005); (R-HSA-8854214)", "pathway_count": 3, "publication_count": 125, "publication_id_list": "10202141;10445031;10559959;10679020;10747087;10788476;10825291;10903204;10982397;11035026;11237011;11285137;11306556;11927603;12070132;12235121;15037235;16055087;16303754;16395330;16495487;16624868;16912714;17005010;17038314;17192411;17287728;17316621;17562788;17658474;17684057;17686842;17901050;18199687;18319245;18466115;18843296;19077034;19164740;19638414;19656848;20095038;20116244;20363736;20404108;20545907;20679433;20966969;21383079;21458671;21478858;21532587;21689688;22013193;22157747;22219378;22491470;22613832;22675024;22762500;22795129;22854040;23019362;23236136;23378591;23479643;23481700;23562278;23698585;23864707;24119662;24239381;24714562;24715725;24891604;24917561;25202031;25406594;25492864;25576301;25586378;25619252;26063829;26992070;27846572;27862975;27920218;28228285;28832583;28834231;28904123;29242379;29557506;29632711;29789417;30429286;30833945;31154438;31217245;31530632;31844290;31848261;32157095;32162791;32387766;32488085;32502341;32740904;32938616;33141586;33298915;33968037;34171305;34509645;35051231;35580925;36010968;8221884;8620540;8663406;9094723;9150144;9177194;9307973;9647643", "class_list": "", "function": "GTPase-activating protein (GAP) specific for Rab1 and Rab2 small GTPase families for which it can accelerate the intrinsic GTP hydrolysis rate by more than five orders of magnitude (PubMed:23236136). Also shows GAP activity for RAB18 GTPase (PubMed:26063829). Promotes RAB18 dissociation from the endoplasmic reticulum (ER) membrane into the cytosol, probably through stimulating RAB18 GTP-hydrolysis (PubMed:26063829). Involved in maintaining endoplasmic reticulum structure (PubMed:24891604)., [UniProtKB, PubMed, PubMed, PubMed]; Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans., [RefSeq, PubMed]; Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran., [RefSeq, PubMed]; Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights. Review article, [RefSeq, PubMed]; TBC1D20 was found to be the first known GAP for Rab1, which is implicated in the regulation of anterograde traffic between the endoplasmic reticulum and the Golgi complex, [RefSeq, PubMed]; The NS5A interaction with TBC1D20 and Rab1 is essential for the viral life cycle., [RefSeq, PubMed]; This gene encodes a protein that belongs to a family of GTPase activator proteins of Rab-like small GTPases. The encoded protein and its cognate GTPase, Rab1, bind the nonstructural protein 5A (NS5A) of the hepatitis C virus (HCV) to mediate viral replication. Depletion of this protein inhibits replication of the virus and HCV infection. Mutations in this gene are associated with Warburg micro syndrome 4. Alternative splicing results in multiple transcript variants. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K6I3;B9A6M1;Q5JWQ7;Q6ZSY8;Q96NE1;Q9BYM7;Q9H140", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0031965 nuclear membrane;GO:0005789 endoplasmic reticulum membrane;GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane", "go_biological_process": "GO:0046726 positive regulation by virus of viral protein levels in host cell;GO:0044829 host-mediated activation of viral genome replication;GO:0090110 COPII-coated vesicle cargo loading;GO:0043547 positive regulation of GTPase activity;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 12.6, "record_id": "Q96BZ9-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BQ87-1", "uniprot_id": [ { "id": "TBL1Y_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BQ87", "type": "external" } ], "mass": 56688.0, "length": 522, "protein_name": "F-box-like/WD repeat-containing protein TBL1Y", "gene_name": "TBL1Y", "organism": "Human", "refseq_name": "F-box-like/WD repeat-containing protein TBL1Y", "refseq_ac": [ { "id": "NP_150600", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_150600", "type": "external" } ], "gene_names_uniprotkb": "TBL1Y; TBL1", "gene_names_refseq": "DFNY2; TBL1Y; TBL1", "protein_names_uniprotkb": "F-box-like/WD repeat-containing protein TBL1Y; Transducin beta-like protein 1Y; Transducin-beta-like protein 1, Y-linked", "protein_names_refseq": "F-box-like/WD repeat-containing protein TBL1Y; transducin beta-like 1; transducin beta-like protein 1Y; transducin-beta-like protein 1, Y-linked", "tax_id": 9606, "disease": "sensory system disease (Disease Ontology:DOID:0050155); Y-linked deafness 2 (Disease Ontology:DOID:0111758)", "pathway": " (hsa:90665)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "11237011;18511697;19605777;21189284;22280357;26070566;28218747;28853286;29437277;29557506;29769354;30341416;30410026;32157095;32350084;32502341;32938616;33123756;33968037;33981976;34932366;35051231;35251023;35318648;35580925;38253038;40914422", "class_list": "", "function": "F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units. Plays an essential role in transcription activation mediated by nuclear receptors. Probably acts as integral component of corepressor complexes that mediates the recruitment of the 19S proteasome complex, leading to the subsequent proteasomal degradation of transcription repressor complexes, thereby allowing cofactor exchange (By similarity)., [UniProtKB]; Investigated 12 single-nucleotide polymorphisms in Y-linked neuroligin 4, transducin b-like 1, and eukaryotic translation initiation factor 1a genes, results suggest a Y chromosome effect in autism GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Our findings suggest that TBL1Y is involved in the genesis of non-syndromic coarctation of the aorta., [RefSeq, PubMed]; Reducing TBL1Y cellular level using siRNA approach influenced cardiac differentiation by reducing its efficacy as well as increasing the probability of impaired contractions; proposed reclassification of TBL1Y as 'found missing protein', [RefSeq, PubMed]; TBL1 is required to protect GPS2 from degradation, with methylation of GPS2 by arginine methyltransferase PRMT6 regulating the interaction with TBL1 and inhibiting proteasome-dependent degradation., [RefSeq, PubMed]; TBL1Y mutation causes syndromic hearing loss. Pathogenic variant affects protein expression and stability., [RefSeq, PubMed]; Taken together,these findings suggest that TBL1 controls NF-kB activation by recruiting NF-kB to its target gene promoter., [RefSeq, PubMed]; The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This gene is highly similar to TBL1X gene in nucleotide sequence and protein sequence, but the TBL1X gene is located on chromosome X and this gene is on chromosome Y. This gene has three alternatively spliced transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A1L4B3", "ec_number_list": [], "go_molecular_function": "GO:0003714 transcription corepressor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;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": 3.2, "record_id": "Q9BQ87-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NR00-1", "uniprot_id": [ { "id": "TCIM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NR00", "type": "external" } ], "mass": 12337.0, "length": 106, "protein_name": "Transcriptional and immune response regulator", "gene_name": "TCIM", "organism": "Human", "refseq_name": "transcriptional and immune response regulator", "refseq_ac": [ { "id": "NP_064515", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064515", "type": "external" } ], "gene_names_uniprotkb": "TCIM; C8orf4; TC1", "gene_names_refseq": "C8orf4; TC-1; TC1; TCIM", "protein_names_uniprotkb": "Transcriptional and immune response regulator; TC-1; Thyroid cancer protein 1", "protein_names_refseq": "human thyroid cancer 1; protein C8orf4; thyroid cancer protein 1; transcriptional and immune response regulator", "tax_id": 9606, "disease": "", "pathway": " (hsa:56892)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "11056052;15087392;16424001;16730711;17520678;17603013;18959821;19684084;20878554;24941347;25985737;29331515;29557506;29789417;30429286;30833945;31026067;31081098;31374065;31844290;34171305;35051231;36284347;37938771", "class_list": "", "function": "A significant association was found between the copy-number deletions of C8orf4 and the risk of hematological malignancies., [RefSeq, PubMed]; Correlations of ultrasound and pathological features of thyroid carcinoma with TC-1 mRNA and protein expression., [RefSeq, PubMed]; Data indicate that TC1 is a novel upstream regulator of the Wnt/beta-catenin pathway that enhances aggressive behavior of cancers, [RefSeq, PubMed]; Overexpression of TC-1 may be important in thyroid carcinogenesis., [RefSeq, PubMed]; Seems to be involved in the regulation of cell growth an differentiation, may play different and opposite roles depending on the tissue or cell type. May enhance the WNT-CTNNB1 pathway by relieving antagonistic activity of CBY1 (PubMed:16424001, PubMed:16730711). Enhances the proliferation of follicular dendritic cells (PubMed:16730711). Plays a role in the mitogen-activated MAPK2/3 signaling pathway, positively regulates G1-to-S-phase transition of the cell cycle (PubMed:18959821). In endothelial cells, enhances key inflammatory mediators and inflammatory response through the modulation of NF-kappaB transcriptional regulatory activity (PubMed:19684084). Involved in the regulation of heat shock response, seems to play a positive feedback with HSF1 to modulate heat-shock downstream gene expression (PubMed:17603013). Plays a role in the regulation of hematopoiesis even if the mechanisms are unknown (By similarity). In cancers such as thyroid or lung cancer, it has been described as promoter of cell proliferation, G1-to-S-phase transition and inhibitor of apoptosis (PubMed:15087392, PubMed:24941347). However, it negatively regulates self-renewal of liver cancer cells via suppresion of NOTCH2 signaling (PubMed:25985737)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; TC-1 over expression is transforming and may link with the FGFR pathway in a subset of breast cancer., [RefSeq, PubMed]; The expressions of C8orf4 (TCIM) and beta-catenin increase synergystically in cervical squamous cell carcinoma (CSCC) and high-grade intraepithelial lesions compared with low-grade lesions and normal cervical tissues. The methylation level of C8orf4 is decreased in CSCCs and is responsible for the increased expression of C8orf4., [RefSeq, PubMed]; The lncRNA H19 serves as a competing endogenous RNA (ceRNA) for miR-30a to augment miR-30a downstream target C8orf4, therefore modulating adipogenic differentiation in adipose tissue-derived mesenchymal stem cells., [RefSeq, PubMed]; This gene encodes a small, monomeric, predominantly unstructured protein that functions as a positive regulator of the Wnt/beta-catenin signaling pathway. This protein interacts with a repressor of beta-catenin mediated transcription at nuclear speckles. It is thought to competitively block interactions of the repressor with beta-catenin, resulting in up-regulation of beta-catenin target genes. The encoded protein may also play a role in the NF-kappaB and ERK1/2 signaling pathways. Expression of this gene may play a role in the proliferation of several types of cancer including thyroid cancer, breast cancer and hematological malignancies. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0005112 Notch binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016607 nuclear speck", "go_biological_process": "GO:1901224 positive regulation of non-canonical NF-kappaB signal transduction;GO:0006355 regulation of DNA-templated transcription;GO:0006915 apoptotic process;GO:0034605 cellular response to heat;GO:0045746 negative regulation of Notch signaling pathway", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q9NR00-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NRH3-1", "uniprot_id": [ { "id": "TBG2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NRH3", "type": "external" } ], "mass": 51092.0, "length": 451, "protein_name": "Tubulin gamma-2 chain", "gene_name": "TUBG2", "organism": "Human", "refseq_name": "tubulin gamma-2 chain isoform 2", "refseq_ac": [ { "id": "NP_057521", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057521", "type": "external" } ], "gene_names_uniprotkb": "TUBG2", "gene_names_refseq": "TUBG2", "protein_names_uniprotkb": "Tubulin gamma-2 chain; Gamma-2-tubulin", "protein_names_refseq": "gamma-2-tubulin; tubulin gamma 2 chain; tubulin gamma-2 chain isoform 2", "tax_id": 9606, "disease": "complex cortical dysplasia with other brain malformations 4 (Disease Ontology:DOID:0090138)", "pathway": " (hsa:27175); (R-HSA-380270); (R-HSA-380320)", "pathway_count": 3, "publication_count": 21, "publication_id_list": "10903841;11956313;12221128;16462731;22235350;22424782;22806905;23921553;24366607;24714562;27015882;28119396;29557506;30379171;30429286;33981976;36581221;38305685;7769006;7790358;8838651", "class_list": "", "function": "Expression of gamma-tubulin2 along with gamma-tubulin1 and a novel TUBG2 splice variant are identified., [RefSeq, PubMed]; Gamma-tubulin 2 is able to nucleate microtubules and substitute for gamma-tubulin 1 Erratum:[PLoS One. 2012;7(6): doi/10.1371/annotation/5dd084b1-20e6-4e1f-88e0-dfe05289da08], [RefSeq, PubMed]; Our results reveal for the first time an increased expression of TUBG1 and TUBG2 in lung cancer, [RefSeq, PubMed]; That in the face of predominant gamma-tubulin-1 expression, the accumulation of gamma-tubulin-2 in mature neurons and neuroblastoma cells during oxidative stress may denote a prosurvival role of gamma-tubulin-2 in neurons, [RefSeq, PubMed]; Tubulin is the major constituent of microtubules, protein filaments consisting of alpha- and beta-tubulin heterodimers (PubMed:38305685). Gamma-tubulin is a key component of the gamma-tubulin ring complex (gTuRC) which mediates microtubule nucleation (PubMed:38305685). The gTuRC regulates the minus-end nucleation of alpha-beta tubulin heterodimers that grow into microtubule protafilaments, a critical step in centrosome duplication and spindle formation (PubMed:38305685)., [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": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NDI4;Q32NB2", "ec_number_list": [], "go_molecular_function": "GO:0005525 GTP binding;GO:0005198 structural molecule activity;GO:0140490 microtubule nucleator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005819 spindle;GO:0005829 cytosol", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0007020 microtubule nucleation;GO:0007052 mitotic spindle organization;GO:0000070 mitotic sister chromatid segregation;GO:0031122 cytoplasmic microtubule organization", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q9NRH3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UKZ4-1", "uniprot_id": [ { "id": "TEN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UKZ4", "type": "external" } ], "mass": 305011.0, "length": 2725, "protein_name": "Teneurin-1", "gene_name": "TENM1", "organism": "Human", "refseq_name": "teneurin-1 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001156750", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001156750", "type": "external" } ], "gene_names_uniprotkb": "TENM1; ODZ1; TNM1", "gene_names_refseq": "ODZ1; ODZ3; TEN-M1; TEN1; TENM1; TNM1; TNM; ten-1", "protein_names_uniprotkb": "Teneurin-1; Protein Odd Oz/ten-m homolog 1; Ten-1 ECD; Ten-1 extracellular domain; Ten-1; Ten-m1; Tenascin-M1; Teneurin transmembrane protein 1", "protein_names_refseq": "odz (odd Oz/ten-m, Drosophila) homolog 3; odz, odd Oz/ten-m homolog 1(Drosophila); protein Odd Oz/ten-m homolog 1; tenascin M1; teneurin-1 isoform 1 precursor; teneurin-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10178)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "10.1101/2023.09.13.557529;10341219;10556288;11237011;16959974;18669648;23092983;29671580;30192525;31154438;31217245;31222486;32157095;32938616;32983136;33141586;33592498;33968037;34376733;34388204;35051231;35054927;35318648;36010968;36193505;37074911;38253038;38727302", "class_list": "", "function": "A Potential Four-Gene Signature and Nomogram for Predicting the Overall Survival of Papillary Thyroid Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Glioblastoma invasion factor ODZ1 is induced by microenvironmental signals through activation of a Stat3-dependent transcriptional pathway. Publication Status: Online-Only, [RefSeq, PubMed]; HIF2alpha Upregulates the Migration Factor ODZ1 under Hypoxia in Glioblastoma Stem Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability. Publication Status: Online-Only, [RefSeq, PubMed]; Induces gene transcription activation., [UniProtKB, UniProtKB, UniProtKB]; Involved in neural development, regulating the establishment of proper connectivity within the nervous system. May function as a cellular signal transducer (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Plays a role in the regulation of neuroplasticity in the limbic system. Mediates a rapid reorganization of actin- and tubulin-based cytoskeleton elements with an increase in dendritic arborization and spine density formation of neurons in the hippocampus and amygdala. Induces BDNF transcription inhibition in neurons. Activates the mitogen-activated protein (MAP) kinase 2 (MEK2) and extracellular signal-regulated kinase (ERK) cascade. Also acts as a bioactive neuroprotective peptide on limbic neurons of the brain and regulates stress-induced behavior: attenuates alkalosis-associated necrotic cell death and the effects of corticotropin-releasing factor (CRF) on c-fos/FOS induction and on the reinstatement of cocaine seeking (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; The Invasion Factor ODZ1 Is Upregulated through an Epidermal Growth Factor Receptor-Induced Pathway in Primary Glioblastoma Cells. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the tenascin family and teneurin subfamily. It is expressed in the neurons and may function as a cellular signal transducer. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]., [RefSeq]", "predicted_glycosites": 9, "predicted_n_glycosites": 8, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 111, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 16, "disease_count": 0, "glyco_site_count": 16, "binding_glycan_count": 0, "secondary_ac_list": "B2RTR5;Q5JZ17", "ec_number_list": [], "go_molecular_function": "GO:0008201 heparin binding;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006955 immune response;GO:0007218 neuropeptide signaling pathway;GO:0007399 nervous system development;GO:0008285 negative regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q9UKZ4-1", "record_type": "protein", "filter_code": "0000000.1000101.001000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UL54-1", "uniprot_id": [ { "id": "TAOK2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UL54", "type": "external" } ], "mass": 138251.0, "length": 1235, "protein_name": "Serine/threonine-protein kinase TAO2", "gene_name": "TAOK2", "organism": "Human", "refseq_name": "serine/threonine-protein kinase TAO2 isoform 3", "refseq_ac": [ { "id": "NP_001238972", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001238972", "type": "external" } ], "gene_names_uniprotkb": "TAOK2; KIAA0881; MAP3K17; PRO7431; PSK1; PSK", "gene_names_refseq": "MAP3K17; PSK1-BETA; PSK1; PSK; TAO1; TAO2; TAOK2; Tao2beta", "protein_names_uniprotkb": "Serine/threonine-protein kinase TAO2; 2.7.11.1; Kinase from chicken homolog C; PSK-1; PSK1; Prostate-derived STE20-like kinase 1; Prostate-derived sterile 20-like kinase 1; Thousand and one amino acid protein kinase 2; hKFC-C", "protein_names_refseq": "PSK-1; hKFC-C; kinase from chicken homolog C; prostate derived STE20-like kinase PSK; prostate-derived STE20-like kinase 1; prostate-derived sterile 20-like kinase 1; serine/threonine-protein kinase TAO2 isoform 3; serine/threonine-protein kinase TAO2; thousand and one amino acid protein kinase 2", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); chromosome 16p11.2 deletion syndrome, 593-kb (Disease Ontology:DOID:0070515); cancer (Disease Ontology:DOID:162); central nervous system disease (Disease Ontology:DOID:331)", "pathway": " (hsa:9344)", "pathway_count": 1, "publication_count": 82, "publication_id_list": "10660600;11279118;12639963;12665513;12975309;13679851;16893890;17158878;17396146;18691976;19226137;19369195;19691289;20068231;20159944;22544926;23186163;23481700;24275569;24714562;24715725;25576301;25645385;25892735;26992070;27600516;27862975;27920218;28228285;28649982;28830982;28832583;28834231;29242379;29393594;29557506;29632046;29632711;29786170;30315122;30429286;30620550;30833945;31154438;31222486;31844290;31848261;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34357683;34509645;34879262;34932366;35051231;35141166;35318648;35580925;36010968;36241641;36284347;37813295;37938771", "class_list": "", "function": "Comprehensive split TEV based protein-protein interaction screening reveals TAOK2 as a key modulator of Hippo signalling to limit growth., [RefSeq, PubMed]; Serine/threonine-protein kinase involved in different processes such as membrane blebbing and apoptotic bodies formation DNA damage response and MAPK14/p38 MAPK stress-activated MAPK cascade. Phosphorylates itself, MBP, activated MAPK8, MAP2K3, MAP2K6 and tubulins. Activates the MAPK14/p38 MAPK signaling pathway through the specific activation and phosphorylation of the upstream MAP2K3 and MAP2K6 kinases. In response to DNA damage, involved in the G2/M transition DNA damage checkpoint by activating the p38/MAPK14 stress-activated MAPK cascade, probably by mediating phosphorylation of upstream MAP2K3 and MAP2K6 kinases. Isoform 1, but not isoform 2, plays a role in apoptotic morphological changes, including cell contraction, membrane blebbing and apoptotic bodies formation. This function, which requires the activation of MAPK8/JNK and nuclear localization of C-terminally truncated isoform 1, may be linked to the mitochondrial CASP9-associated death pathway. Isoform 1 binds to microtubules and affects their organization and stability independently of its kinase activity. Prevents MAP3K7-mediated activation of CHUK, and thus NF-kappa-B activation, but not that of MAPK8/JNK. May play a role in the osmotic stress-MAPK8 pathway. Isoform 2, but not isoform 1, is required for PCDH8 endocytosis. Following homophilic interactions between PCDH8 extracellular domains, isoform 2 phosphorylates and activates MAPK14/p38 MAPK which in turn phosphorylates isoform 2. This process leads to PCDH8 endocytosis and CDH2 cointernalization. Both isoforms are involved in MAPK14 phosphorylation., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; TAOK2 is an ER-localized kinase that catalyzes the dynamic tethering of ER to microtubules., [RefSeq, PubMed]; The circRNA circSIAE Inhibits Replication of Coxsackie Virus B3 by Targeting miR-331-3p and Thousand and One Amino-Acid Kinase 2. Publication Status: Online-Only, [RefSeq, PubMed]; We characterize a compound that inhibits TAOK1 and TAOK2 activity with IC50 values of 11 to 15 nmol/L, is ATP-competitive, and targets these kinases selectively. TAOK inhibition or depletion in centrosome-amplified SKBR3 or BT549 breast cancer cell models increases the mitotic population, the percentages of mitotic cells displaying amplified centrosomes and multipolar spindles, induces cell death, and inhibits cell growt, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 3, "reported_glycation": 0, "reported_snv": 23, "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": "A5PKY1;A7MCZ2;B2RN35;B7ZM88;O94957;Q6UW73;Q7LC09;Q9NSW2", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0031434 mitogen-activated protein kinase kinase binding;GO:0048156 tau protein binding;GO:0038191 neuropilin binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 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"https://www.uniprot.org/uniprot/A8MWL7", "type": "external" } ], "mass": 12177.0, "length": 114, "protein_name": "Transmembrane protein 14DP", "gene_name": "TMEM14DP", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TMEM14DP; TMEM14D", "gene_names_refseq": "", "protein_names_uniprotkb": "Transmembrane protein 14DP", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 4, "publication_id_list": "24715725;31844290;32357974;33912179", "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, 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"go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A8MYB1-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14925-1", "uniprot_id": [ { "id": "TIM23_HUMAN", "url": "https://www.uniprot.org/uniprot/O14925", "type": "external" } ], "mass": 21943.0, "length": 209, "protein_name": "Mitochondrial import inner membrane translocase subunit Tim23", "gene_name": "TIMM23", "organism": "Human", "refseq_name": "mitochondrial import inner membrane translocase subunit Tim23", "refseq_ac": [ { "id": "NP_006318", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006318", "type": "external" } ], "gene_names_uniprotkb": "TIMM23; TIM23", "gene_names_refseq": "TIM23; TIMM23", "protein_names_uniprotkb": "Mitochondrial import inner membrane translocase subunit Tim23", "protein_names_refseq": "mitochondrial import inner membrane translocase subunit Tim23; translocase of inner mitochondrial membrane 23 homolog; translocase of the inner mitochondrial membrane", "tax_id": 9606, "disease": "muscular atrophy (Disease Ontology:DOID:767)", "pathway": " (hsa:100287932); (R-HSA-1268020)", "pathway_count": 2, "publication_count": 88, "publication_id_list": "10.1101/2023.09.13.557529;10339406;14726512;15044455;15254020;15644312;15683237;16185709;16849325;17510655;18174896;18678864;19409522;19453276;19767391;19962426;20593814;21750375;22869377;23041349;23263864;23481700;23597483;23811401;24714562;24715725;25315652;25418920;25576301;25645385;25892735;26154972;26375851;26697887;26992070;27397612;27600516;27846572;27862975;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30379171;30410026;30429286;30833945;31154438;31844290;31848261;31998317;32157095;32265295;32488085;32502341;32983136;33141586;33197464;33298915;33592498;33717175;33936100;34171305;34211107;34357683;34561969;34932366;35051231;35705054;36284347;37044213;37160114;37938771;40596516", "class_list": "", "function": "Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane (PubMed:10339406). Has a role in the activation of stress-induced mitophagy by protecting PINK1 from OMA1-mediated degradation and facilitating its accumulation at the outer mitochondrial membrane in response to depolarization (PubMed:37160114)., [UniProtKB, PubMed, PubMed]; Mitochondrial Oxidative Stress Induces Rapid Intermembrane Space/Matrix Translocation of Apurinic/Apyrimidinic Endonuclease 1 Protein through TIM23 Complex., [RefSeq, PubMed]; NOX4-TIM23 interaction regulates NOX4 mitochondrial import and metabolic reprogramming., [RefSeq, PubMed]; The protein encoded by this gene is part of a complex located in the inner mitochondrial membrane that mediates the transport of transit peptide-containing proteins across the membrane. Multiple transcript variants, one protein-coding and others not protein-coding, have been found 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": 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": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q53FF8;Q5T1E6;Q6P5S5", "ec_number_list": [], "go_molecular_function": "GO:0008320 protein transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005758 mitochondrial intermembrane space;GO:0005744 TIM23 mitochondrial import inner membrane translocase complex", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0006626 protein targeting to mitochondrion;GO:0030150 protein import into mitochondrial matrix;GO:0061734 type 2 mitophagy", "synthesized_glycan_count": 0, "hit_score": 9.4, "record_id": "O14925-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P03979-1", "uniprot_id": [ { "id": "TRGV3_HUMAN", "url": "https://www.uniprot.org/uniprot/P03979", "type": "external" } ], "mass": 13664.0, "length": 118, "protein_name": "T cell receptor gamma variable 3", "gene_name": "TRGV3", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRGV3; TCRGV3", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor gamma variable 3; T-cell receptor gamma V-gamma-1.1 region", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 8, "publication_id_list": "23348415;24387714;24600447;25674089;28920588;29557506;3453106;3458221", "class_list": "", "function": "V region of the variable domain of T cell receptor (TR) gamma chain that participates in the antigen recognition (PubMed:24600447). Gamma-delta TRs recognize a variety of self and foreign non-peptide antigens frequently expressed at the epithelial boundaries between the host and external environment, including endogenous lipids presented by MH-like protein CD1D and phosphoantigens presented by butyrophilin-like molecule BTN3A1. Upon antigen recognition induces rapid, innate-like immune responses involved in pathogen clearance and tissue repair (PubMed:23348415, PubMed:28920588). Binding of gamma-delta TR complex to antigen triggers phosphorylation of immunoreceptor tyrosine-based activation motifs (ITAMs) in the CD3 chains by the LCK and FYN kinases, allowing the recruitment, phosphorylation, and activation of ZAP70 that facilitates phosphorylation of the scaffolding proteins LCP2 and LAT. This lead to the formation of a supramolecular signalosome that recruits the phospholipase PLCG1, resulting in calcium mobilization and ERK activation, ultimately leading to T cell expansion and differentiation into effector cells (PubMed:25674089). Gamma-delta TRs are produced through somatic rearrangement of a limited repertoire of variable (V), diversity (D), and joining (J) genes. The potential diversity of gamma-delta TRs is conferred by the unique ability to rearrange (D) genes in tandem and to utilize all three reading frames. The combinatorial diversity is considerably increased by the sequence exonuclease trimming and random nucleotide (N) region additions which occur during the V-(D)-J rearrangements (PubMed:24387714)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0A075B6L3", "ec_number_list": [], "go_molecular_function": "GO:0042605 peptide antigen binding;GO:0042287 MHC protein binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0042101 T cell receptor complex", "go_biological_process": "GO:0006955 immune response;GO:0045087 innate immune response;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "P03979-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0CAT3-1", "uniprot_id": [ { "id": "TLXNB_HUMAN", "url": "https://www.uniprot.org/uniprot/P0CAT3", "type": "external" } ], "mass": 13375.0, "length": 122, "protein_name": "Putative TLX1 neighbor protein", "gene_name": "TLX1NB", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TLX1NB; TDI", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative TLX1 neighbor protein; TLX1 divergent gene protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "17303350", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "P0CAT3-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P34981-1", "uniprot_id": [ { "id": "TRFR_HUMAN", "url": "https://www.uniprot.org/uniprot/P34981", "type": "external" } ], "mass": 45085.0, "length": 398, "protein_name": "Thyrotropin-releasing hormone receptor", "gene_name": "TRHR", "organism": "Human", "refseq_name": "thyrotropin-releasing hormone receptor", "refseq_ac": [ { "id": "NP_003292", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003292", "type": "external" } ], "gene_names_uniprotkb": "TRHR", "gene_names_refseq": "CHNG7; TRH-R; TRHR", "protein_names_uniprotkb": "Thyrotropin-releasing hormone receptor; TRH-R; Thyroliberin receptor", "protein_names_refseq": "thyroliberin receptor; thyrotropin-releasing hormone receptor", "tax_id": 9606, "disease": "congenital hypothyroidism (Disease Ontology:DOID:0050328); congenital nongoitrous hypothyroidism 7 (Disease Ontology:DOID:0111836); hypertension (Disease Ontology:DOID:10763)", "pathway": " (hsa:7201); (R-HSA-375276); (R-HSA-416476)", "pathway_count": 3, "publication_count": 128, "publication_id_list": "10079109;10100623;10191087;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10567430;10604470;10727532;10854085;10861009;10899166;11015615;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;19213692;23446738;23690594;24906252;2649896;26735259;27496565;2841328;28419241;3086311;31092671;3202875;3366244;3525564;3856870;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7797512;7905839;7918619;7937899;8035319;8062389;8063797;8185599;8201839;8243797;8248172;8294032;8373420;8381365;8383682;8395824;8396925;8440682;8463333;8503909;8615752;8664309;8666380;8702752;8703031;873923;8770906;8823230;9141550;9171878;9305846;9521323;9530155;9593744;9607765;9685625;9722565;9770463;9792798;9832121;9851594;9886052", "class_list": "", "function": "Receptor for thyrotropin-releasing hormone (TRH). Upon ligand binding, this G protein-coupled receptor triggers activation of the phosphatidylinositol (IP3)-calcium-protein kinase C (PKC) pathway., [UniProtKB, PubMed, PubMed]; This gene encodes a G protein-coupled receptor for thyrotropin-releasing hormone (TRH). Upon binding to TRH, this receptor activates the inositol phospholipid-calcium-protein kinase C transduction pathway. Mutations in this gene have been associated with generalized thyrotropin-releasing hormone resistance. [provided by RefSeq, Sep 2011]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "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": "Q2M339", "ec_number_list": [], "go_molecular_function": "GO:0004997 thyrotropin-releasing hormone receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007200 phospholipase C-activating G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 12.9, "record_id": "P34981-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96MM3-1", "uniprot_id": [ { "id": "ZFP42_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96MM3", "type": "external" } ], "mass": 34802.0, "length": 310, "protein_name": "Zinc finger protein 42 homolog", "gene_name": "ZFP42", "organism": "Human", "refseq_name": "zinc finger protein 42 homolog", "refseq_ac": [ { "id": "NP_001291287", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291287", "type": "external" } ], "gene_names_uniprotkb": "ZFP42; REX1; ZNF754", "gene_names_refseq": "REX-1; REX1; ZFP42; ZNF754; zfp-42", "protein_names_uniprotkb": "Zinc finger protein 42 homolog; REX-1; Reduced expression protein 1; Zfp-42; Zinc finger protein 754; hREX-1", "protein_names_refseq": "REX1 transcription factor; reduced expression 1; reduced expression protein 1; zinc finger protein 42 homolog; zinc finger protein 754", "tax_id": 9606, "disease": "", "pathway": " (hsa:132625)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "12110702;15790780;16344273;16424014;16865673;18452278;20068231;30221575;31409905;34183450", "class_list": "", "function": "Involved in the reprogramming of X-chromosome inactivation during the acquisition of pluripotency. Required for efficient elongation of TSIX, a non-coding RNA antisense to XIST. Binds DXPas34 enhancer within the TSIX promoter. Involved in ES cell self-renewal (By similarity)., [UniProtKB]; MAPCs express the OCT4 and REX1 transcription factors, two specific markers of undifferentiated embryonic stem (ES) cells., [RefSeq, PubMed]; REX-1 Represses RASSF1a and Activates the MEK/ERK Pathway to Promote Tumorigenesis in Prostate Cancer., [RefSeq, PubMed]; REX1 functions in normal adult epithelial cells and tumorigenic stem cells., [RefSeq, PubMed]; REX1 overexpression could play a crucial role in the metastasis and invasion of cervical cancer by upregulating the activity of the JAK2/STAT3 pathway by trans-suppressing SOCS1 expression., [RefSeq, PubMed]; ZFP42 missense mutation was identified in patients with multilocus imprinting disturbances. ZFP42 pathogenic mutation affects protein conformation and 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": 2, "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": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DP65;Q8WXE2", "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:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005667 transcription regulator complex;GO:0000785 chromatin;GO:0031519 PcG protein complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0008584 male gonad development;GO:0008585 female gonad development;GO:0051321 meiotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q96MM3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H4I3-1", "uniprot_id": [ { "id": "TRABD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H4I3", "type": "external" } ], "mass": 42321.0, "length": 376, "protein_name": "TraB domain-containing protein", "gene_name": "TRABD", "organism": "Human", "refseq_name": "traB domain-containing protein isoform c", "refseq_ac": [ { "id": "NP_001307417", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307417", "type": "external" } ], "gene_names_uniprotkb": "TRABD; PP2447; TTG2", "gene_names_refseq": "LP6054; PP2447; TRABD", "protein_names_uniprotkb": "TraB domain-containing protein; Protein TTG2", "protein_names_refseq": "traB domain-containing protein isoform c; traB domain-containing protein", "tax_id": 9606, "disease": "neurodegenerative disease (Disease Ontology:DOID:1289)", "pathway": " (hsa:80305)", "pathway_count": 1, "publication_count": 80, "publication_id_list": "11214971;11237011;18477386;18991276;23186163;23481700;23783831;24366607;24714562;25418920;25576301;25645385;25802875;25880248;25892735;26154972;26375851;26728094;26992070;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28514659;28649982;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29632046;29769354;29786170;30315122;30410026;30429286;30779550;31154438;31222486;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34185709;34357683;34932366;35051231;35561310;35580925;36010968;36241641;36284347;37217939;37938771;38843396;40105103;40914422", "class_list": "", "function": "Along with MFN2, MIGA2 and PLD6 promotes mitochondrial clustering and fusion (PubMed:38843396). May play a role in mitochondrial import of proteins, such as that of SLC25A19 (PubMed:40105103)., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 9, "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": "Q19CC5;Q96ED8;Q9H7N1;Q9UGX6;Q9UGX7", "ec_number_list": [], "go_molecular_function": "GO:0160204 mitochondrion-mitochondrion outer membrane tether activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0140596 TOM complex", "go_biological_process": "GO:0070585 protein localization to mitochondrion;GO:0008053 mitochondrial fusion", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "Q9H4I3-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UWJ1-1", "uniprot_id": [ { "id": "SL9D1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UWJ1", "type": "external" } ], "mass": 75598.0, "length": 677, "protein_name": "Solute carrier family 9 member D1", "gene_name": "SLC9D1", "organism": "Human", "refseq_name": "solute carrier family 9 member D1 isoform 1 precursor", "refseq_ac": [ { "id": "NP_060375", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060375", "type": "external" } ], "gene_names_uniprotkb": "SLC9D1; C13orf11; PRO4976; TMCO3", "gene_names_refseq": "C13orf11; SLC9D1; TMCO3", "protein_names_uniprotkb": "Solute carrier family 9 member D1; Putative LAG1-interacting protein; Transmembrane and coiled-coil domain-containing protein 3", "protein_names_refseq": "putative LAG1-interacting protein; solute carrier family 9 member D1 isoform 1 precursor; transmembrane and coiled-coil domain-containing protein 3; transmembrane and coiled-coil domains 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:55002)", "pathway_count": 1, "publication_count": 50, "publication_id_list": "10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;11237011;12975309;24190977;24366607;24715725;25576301;25813380;26992070;27484837;27846572;27862975;28218747;28834231;28904123;29437277;29493099;29557506;29786170;30429286;30459171;31844290;32157095;32350084;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33537174;33592498;33912179;33968037;33981976;34185709;34405274;34509645;35051231;35251023;35494241;35580925;36010968;36241641;37554015;38665916;38755265;40285646", "class_list": "", "function": "M2 macrophage-derived exosomal circTMCO3 acts through miR-515-5p and ITGA8 to enhance malignancy in ovarian cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Probable Na(+):H(+) or K(+):H(+) antiporter (Probable). Upon IGF1-dependent phosphorylation, facilitates the membrane translocation and activation of AKT1 (PubMed:40285646)., [UniProtKB, PubMed, PubMed]; TMCO3, a Putative K[+] :Proton Antiporter at the Golgi Apparatus, Is Important for Longitudinal Growth in Mice and Humans., [RefSeq, PubMed]; This gene encodes a member of the monovalent cation:proton antiporter 2 (CPA2) family of transporter proteins. Members of this family typically couple the export of monovalent cations, such as potassium or sodium, to the import of protons across cellular membranes. Mutations in this gene have been identified in patients with a rare inherited vision defect, cornea guttata with anterior polar cataract. [provided by RefSeq, Mar 2017]., [RefSeq]; This study reveals, for the first time, that mutations in TMCO3 are associated with cornea guttata and anterior polar cataract, warranting further investigation into the pathogenesis of this disorder. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q5JSB1;Q6NUN1;Q8NG29;Q8TCI6;Q96EA6;Q9NWT2", "ec_number_list": [], "go_molecular_function": "GO:0015386 potassium:proton antiporter activity;GO:0043495 protein-membrane adaptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0051897 positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q6UWJ1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P275-1", "uniprot_id": [ { "id": "UBP36_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P275", "type": "external" } ], "mass": 122908.0, "length": 1123, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 36", "gene_name": "USP36", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 36 isoform 2", "refseq_ac": [ { "id": "NP_001308220", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308220", "type": "external" } ], "gene_names_uniprotkb": "USP36; KIAA1453", "gene_names_refseq": "DUB1; USP36", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 36; 2.3.2.-; 3.4.19.12; Deubiquitinating enzyme 36; Ubiquitin thioesterase 36; Ubiquitin-specific-processing protease 36", "protein_names_refseq": "deubiquitinating enzyme 36; ubiquitin carboxyl-terminal hydrolase 36 isoform 2; ubiquitin carboxyl-terminal hydrolase 36; ubiquitin specific protease 36; ubiquitin thioesterase 36; ubiquitin-specific-processing protease 36", "tax_id": 9606, "disease": "congenital heart disease (Disease Ontology:DOID:1682); primary ovarian insufficiency (Disease Ontology:DOID:5426)", "pathway": " (hsa:57602)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12429849;14715245;15254734;17081983;18669648;19208757;19690332;20068231;21268071;21406692;22622177;22902402;23186163;25775507;27445338;29273634;29274341;29557506;30429286;31844290;32157095;32357974;32488085;32502341;32897882;32938616;32983136;33298915;33592498;33633747;33717175;33912179;33968037;34087483;34171305;34932366;35051231;35494241;35580925;35989368;36912080;38261467;38876304;39152465;39215346;39356143", "class_list": "", "function": "DUB-1 is present ubuquitously within cells and has deubiitinating enzyme activity in vivo and in vitro., [RefSeq, PubMed]; Deubiquitinase essential for the regulation of nucleolar structure and function (PubMed:19208757, PubMed:22902402, PubMed:29273634). Required for cell and organism viability (PubMed:19208757, PubMed:22902402, PubMed:29273634). Plays an important role in ribosomal RNA processing and protein synthesis, which is mediated, at least in part, through deubiquitination of DHX33, NPM1 and FBL, regulating their protein stability (PubMed:19208757, PubMed:22902402, PubMed:29273634, PubMed:36912080). Functions as a transcriptional repressor by deubiquiting histone H2B at the promoters of genes critical for cellular differentiation, such as CDKN1A, thereby preventing histone H3 'Lys-4' trimethylation (H3K4) (PubMed:29274341). Specifically deubiquitinates MYC in the nucleolus, leading to prevent MYC degradation by the proteasome: acts by specifically interacting with isoform 3 of FBXW7 (FBW7gamma) in the nucleolus and counteracting ubiquitination of MYC by the SCF(FBW7) complex (PubMed:25775507). In contrast, it does not interact with isoform 1 of FBXW7 (FBW7alpha) in the nucleoplasm (PubMed:25775507). Interacts to and regulates the actions of E3 ubiquitin-protein ligase NEDD4L over substrates such as NTRK1, KCNQ2 and KCNQ3, affecting their expression an functions (PubMed:27445338). Deubiquitinates SOD2, regulates SOD2 protein stability (PubMed:21268071). Deubiquitinase activity is required to control selective autophagy activation by ubiquitinated proteins (PubMed:22622177). Promotes CEP63 stabilization through 'Lys-48'-linked deubiquitination leading to increased stability (PubMed:35989368). Acts as a SUMO ligase to promote EXOSC10 sumoylation critical for the nucleolar RNA exosome function in rRNA processing (PubMed:36912080). Binds to pre-rRNAs (PubMed:36912080)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes., [UniProtKB, UniProtKB, UniProtKB]; Germline USP36 Mutation Confers Resistance to EGFR-TKIs by Upregulating MLLT3 Expression in Patients with Non-Small Cell Lung Cancer., [RefSeq, PubMed]; This gene encodes a member of the peptidase C19 or ubiquitin-specific protease family of cysteine proteases. Members of this family remove ubiquitin molecules from polyubiquitinated proteins. The encoded protein may deubiquitinate and stabilize the transcription factor c-Myc, also known as MYC, an important oncoprotein known to be upregulated in most human cancers. The encoded protease may also regulate the activation of autophagy. This gene exhibits elevated expression in some breast and lung cancers. [provided by RefSeq, Mar 2016]., [RefSeq]; USP36 SUMOylates Las1L and Promotes Its Function in Pre-Ribosomal RNA ITS2 Processing., [RefSeq, PubMed]; USP36 inhibits apoptosis by deubiquitinating cIAP1 and survivin in colorectal cancer cells., [RefSeq, PubMed]; USP36 promotes tumorigenesis and tamoxifen resistance in breast cancer by deubiquitinating and stabilizing ERalpha. Publication Status: Online-Only, [RefSeq, PubMed]; USP36 regulates the proliferation, survival, and differentiation of hFOB1.19 osteoblast. 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": 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": 10, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 46, "reported_interactions": 0, "missing_score": 9641, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q05C98;Q05DD0;Q6IQ38;Q8NDM8;Q9NVC8", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0016740 transferase activity;GO:0004843 cysteine-type deubiquitinase activity;GO:1990380 K48-linked deubiquitinase activity;GO:0140936 histone H2B deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016607 nuclear speck", "go_biological_process": "GO:0007000 nucleolus organization;GO:2000232 regulation of rRNA processing;GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:1903955 positive regulation of protein targeting to mitochondrion", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q9P275-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6I4-1", "uniprot_id": [ { "id": "UBP3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6I4", "type": "external" } ], "mass": 58897.0, "length": 520, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 3", "gene_name": "USP3", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 3 isoform 2", "refseq_ac": [ { "id": "NP_001243631", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243631", "type": "external" } ], "gene_names_uniprotkb": "USP3", "gene_names_refseq": "SIH003; UBP; USP3", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 3; 3.4.19.12; Deubiquitinating enzyme 3; Ubiquitin thioesterase 3; Ubiquitin-specific-processing protease 3", "protein_names_refseq": "deubiquitinating enzyme 3; ubiquitin carboxyl-terminal hydrolase 3 isoform 2; ubiquitin carboxyl-terminal hydrolase 3; ubiquitin thioesterase 3; ubiquitin thiolesterase 3; ubiquitin-specific-processing protease 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:9960); (R-HSA-5689880)", "pathway_count": 2, "publication_count": 110, "publication_id_list": "10444327;10480896;10982817;11237011;11566882;11923872;12917689;12917691;14661020;15053880;15916963;16214042;16901786;16964248;17290220;17443180;17873522;17980597;17981138;18172164;18467330;18632802;18636086;19015242;19135894;19188362;19363159;19398555;19424180;19838211;19874889;19910467;20096447;20228808;20368735;20445134;20501646;21239494;21362556;21571647;21596315;21659512;21849505;21962518;22029577;22085928;22128162;22216260;22743239;23159851;23395819;23481700;23486064;23824326;23825189;24056413;24196443;24260525;24366338;24493797;24715725;24896179;25197364;25305019;25418920;25578727;25645385;25880248;25892735;26154972;26375851;26992070;27920218;28228285;28514659;28807825;28832583;28834231;28904123;29242379;29393594;29632046;29769354;31217245;31844290;32157095;32357974;32387766;32502341;32897882;32938616;32983136;33298915;33912179;33968037;34087483;34509645;34932366;35051231;35580925;36010968;36050480;36284347;37170124;37921189;37971847;38502867;38531846;38651282;7578059", "class_list": "", "function": "CRISPR/Cas9-based genome-wide screening of the deubiquitinase subfamily identifies USP3 as a protein stabilizer of REST blocking neuronal differentiation and promotes neuroblastoma tumorigenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Deubiquitinase that plays a role in several cellular processes including transcriptional regulation, cell cycle progression or innate immunity. In response to DNA damage, deubiquitinates monoubiquitinated target proteins such as histone H2A and H2AX and thereby counteracts RNF168- and RNF8-mediated ubiquitination. In turn, participates in the recruitment of DNA damage repair factors to DNA break sites (PubMed:24196443). Required for proper progression through S phase and subsequent mitotic entry (PubMed:17980597). Acts as a positive regulator of TP53 by deubiquitinating and stabilizing it to promote normal cell proliferation and transformation (PubMed:28807825). Participates in establishing tolerance innate immune memory through non-transcriptional feedback. Mechanistically, negatively regulates TLR-induced NF-kappa-B signaling by targeting and removing the 'Lys-63'-linked polyubiquitin chains on MYD88 (PubMed:37971847). Negatively regulates the activation of type I interferon signaling by mediating 'Lys-63'-linked polyubiquitin chains on RIGI and IFIH1 (PubMed:24366338). Also deubiquitinates ASC/PYCARD, the central adapter mediating the assembly and activation of most inflammasomes, and thereby promotes inflammasome activation (PubMed:36050480)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The role of UCP3 gene in functional status and survival at old age., [RefSeq, PubMed]; USP3 inhibition is Active Against Chemo-resistant Hepatocellular Carcinoma Anchorage-independent Growth via Suppressing Wnt/beta-catenin., [RefSeq, PubMed]; USP3 promotes cisplatin resistance in non-small cell lung cancer cells by suppressing ACOT7-regulated ferroptosis., [RefSeq, PubMed]; USP3 promotes osteosarcoma progression via deubiquitinating EPHA2 and activating the PI3K/AKT signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; USP3: Key deubiquitylation enzyme in human diseases. Review article, [RefSeq, PubMed]; Ubiquitin-specific protease 3 (USP3) is a deubiquitinating enzyme for monoubiquitinated histones H2A and H2B; USP3 dynamically associates with chromatin and deubiquitinates H2A/H2B 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": 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": "B4DVU5;F5H1A6;Q8WVD0", "ec_number_list": [ { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042393 histone binding;GO:0004843 cysteine-type deubiquitinase activity;GO:0140936 histone H2B deubiquitinase activity;GO:0140950 histone H2A deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006281 DNA repair;GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0140861 DNA repair-dependent chromatin remodeling", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "Q9Y6I4-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P67936-1", "uniprot_id": [ { "id": "TPM4_HUMAN", "url": "https://www.uniprot.org/uniprot/P67936", "type": "external" } ], "mass": 28522.0, "length": 248, "protein_name": "Tropomyosin alpha-4 chain", "gene_name": "TPM4", "organism": "Human", "refseq_name": "tropomyosin alpha-4 chain isoform Tpm4.1cy", "refseq_ac": [ { "id": "NP_001138632", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138632", "type": "external" } ], "gene_names_uniprotkb": "TPM4", "gene_names_refseq": "BDPLT25; HEL-S-108; TPM4", "protein_names_uniprotkb": "Tropomyosin alpha-4 chain; TM30p1; Tropomyosin-4", "protein_names_refseq": "TM30p1; epididymis secretory protein Li 108; tropomyosin alpha-4 chain isoform Tpm4.1cy; tropomyosin alpha-4 chain", "tax_id": 9606, "disease": "dilated cardiomyopathy (Disease Ontology:DOID:12930); blood platelet disease (Disease Ontology:DOID:2218); bleeding disorder, platelet-type, 25 (MONDO:MONDO:0957580)", "pathway": " (hsa:7171); (R-HSA-390522); (R-HSA-445355); (R-HSA-9013424); (R-HSA-9725370)", "pathway_count": 5, "publication_count": 232, "publication_id_list": "10216106;10556217;10702393;10706082;10706887;10747208;10934142;10991994;11110708;11237011;11242081;11280786;11310834;11457814;11504915;11532985;11751994;11850821;11889009;11943732;11988758;12048254;12112524;12185581;12424201;12665801;12750159;12800156;1286667;12920229;12934099;14506282;14521508;14627618;14962911;15169778;15208656;15374880;15377279;15588951;156362;15895073;16153455;16161041;16170336;16825495;16871283;16939498;16959974;17055381;17086210;17353907;17355222;17416736;17483340;17625570;18097461;1836432;18452557;18593892;18594010;18701132;18724359;18923523;18923524;18923525;18974361;1930128;19380584;19456272;19459784;19608861;20068231;20454865;21134980;21164297;21213368;21415216;21494621;21596819;21656749;21838707;21847362;22223895;22249260;22327622;22339630;22347464;22421042;22544926;22570254;22658521;22778174;23104988;23139213;23186163;23201355;23239810;23481700;23661334;23834404;23957430;24029068;24060861;24366607;24445538;24475247;24496003;24518094;24613930;24714562;24736082;24872348;2526655;25342631;25393796;25421750;25576301;25645385;25813404;25921060;26001147;26062823;26154972;26301689;26362469;26375851;26992070;27245569;27479822;27573755;27600516;2764880;27679490;27846572;27862975;27874193;27920218;28134622;28218747;28228285;28404650;28467828;28659337;28741090;28741662;28832583;28834231;28904123;29242379;29331515;29455642;29493099;29508533;29557506;29632711;29786170;29789417;29873274;30131584;30315122;30410026;30429286;30524438;30692217;30779550;31154438;31366041;31530632;31844290;31848261;31871319;31937595;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33214551;33298915;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34433824;34509645;34561969;34758189;34932366;35008409;35051231;35132862;35170221;35318648;35580925;36010968;3612796;36215666;36284347;36344495;36993958;37217939;37328795;3780718;37938771;3865200;38665916;39990658;40596516;40914422;7824924;8633037;8858389;9481611;9598563;9600334;9778532;9819383;9855623", "class_list": "", "function": "Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments (By similarity). Binds calcium (PubMed:1836432). Plays a role in platelet biogenesis., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Integrated pan-cancer analysis and experimental verification of the roles of tropomyosin 4 in gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; LncRNA SFTA1P promotes cervical cancer progression by interaction with PTBP1 to facilitate TPM4 mRNA degradation. Publication Status: Online-Only, [RefSeq, PubMed]; MicroRNA-5195-3p mediated malignant biological behaviour of insulin-resistant liver cancer cells via SOX9 and TPM4. Publication Status: Online-Only, [RefSeq, PubMed]; Rare missense variants in Tropomyosin-4 (TPM4) are associated with platelet dysfunction, cytoskeletal defects, and excessive bleeding. Erratum:[J Thromb Haemost. 2022 Jun;20(6):1511. doi: 10.1111/jth.15719. PMID: 35596517], [RefSeq, PubMed]; This gene encodes a member of the tropomyosin family of actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosins are dimers of coiled-coil proteins that polymerize end-to-end along the major groove in most actin filaments. They provide stability to the filaments and regulate access of other actin-binding proteins. In muscle cells, they regulate muscle contraction by controlling the binding of myosin heads to the actin filament. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 3, "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": "P07226;Q15659;Q5U0D9;Q9BU85;Q9H8Q3;Q9UCS1;Q9UCS2;Q9UCS3;Q9UCS4", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity;GO:0051015 actin filament binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005884 actin filament;GO:0005925 focal adhesion;GO:0016020 membrane", "go_biological_process": "GO:0006936 muscle contraction;GO:0007015 actin filament organization;GO:0030220 platelet formation;GO:0001649 osteoblast differentiation", "synthesized_glycan_count": 0, "hit_score": 23.6, "record_id": "P67936-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WZ04-1", "uniprot_id": [ { "id": "TOMT_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WZ04", "type": "external" } ], "mass": 32155.0, "length": 291, "protein_name": "Transmembrane O-methyltransferase", "gene_name": "TOMT", "organism": "Human", "refseq_name": "transmembrane O-methyltransferase isoform LRTOMT2a", "refseq_ac": [ { "id": "NP_001138780", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138780", "type": "external" } ], "gene_names_uniprotkb": "TOMT; COMT2; LRTOMT; PP7517", "gene_names_refseq": "CFAP111; DFNB63; LRRC51-TOMT; LRRC51; LRTOMT", "protein_names_uniprotkb": "Transmembrane O-methyltransferase; 2.1.1.6; Catechol O-methyltransferase 2; Protein LRTOMT2", "protein_names_refseq": "leucine rich transmembrane and 0-methyltransferase domain containing; transmembrane O-methyltransferase isoform LRTOMT2a", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness 63 (Disease Ontology:DOID:0110515)", "pathway": " (hsa:120356740); (hsa:220074); (R-HSA-379397)", "pathway_count": 3, "publication_count": 21, "publication_id_list": "11237011;15498874;17066295;17166180;17211611;18794526;18953341;20976142;23053991;24847974;25645385;25788562;28281779;30524438;32517708;34514748;35051231;36928321;4398930;7703232;8515683", "class_list": "", "function": "A genome wide linkage analysis of nonsyndromic deafness segregating in a consanguineous Pakistani family (PKDF537) was used to identify DFNB63, a new locus for congenital profound sensorineural hearing loss., [RefSeq, PubMed]; A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family. Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones (By similarity). Required for auditory function (PubMed:18794526). Component of the cochlear hair cell's mechanotransduction (MET) machinery. Involved in the assembly of the asymmetric tip-link MET complex. Required for transportation of TMC1 and TMC2 proteins into the mechanically sensitive stereocilia of the hair cells. The function in MET is independent of the enzymatic activity (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB]; Deep analysis of the LRTOMTc.242G>A variant in non-syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical studies., [RefSeq, PubMed]; Haplotype analysis defined a 5.55 Mb critical region between microsatellite markers D11S4136 and D11S4081., [RefSeq, PubMed]; Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness., [RefSeq, PubMed]; LRTOMT gene is the second cause of congenital hearing impairment in Moroccan patients., [RefSeq, PubMed]; Nonsense mutation in the human ortholog of the murine Comt2 gene that causes nonsyndromic deafness, [RefSeq, PubMed]; Results indicate that mutations in the LRT)MT gene lead to alterations in the LRTOMT2 protein and might be involved in progressive sensorineural hearing loss., [RefSeq, PubMed]; The locus associated with ARNSHI, [RefSeq, PubMed]; This locus represents naturally occurring readthrough transcription between the neighboring LRRC51 (leucine-rich repeat containing 51) and TOMT (transmembrane O-methyltransferase) genes on chromosome 11. The readthrough transcript encodes a fusion protein that shares sequence identity with each individual gene product. Multiple reports implicate mutations in this gene in nonsyndromic deafness.[provided by RefSeq, Feb 2021]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B7Z816", "ec_number_list": [ { "id": "2.1.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.6", "type": "external" } ], "go_molecular_function": "GO:0016206 catechol O-methyltransferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0045177 apical part of cell", "go_biological_process": "GO:0032502 developmental process;GO:0007605 sensory perception of sound;GO:0042417 dopamine metabolic process;GO:0042420 dopamine catabolic process;GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q8WZ04-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P20396-1", "uniprot_id": [ { "id": "TRH_HUMAN", "url": "https://www.uniprot.org/uniprot/P20396", "type": "external" } ], "mass": 27404.0, "length": 242, "protein_name": "Pro-thyrotropin-releasing hormone", "gene_name": "TRH", "organism": "Human", "refseq_name": "thyrotropin releasing hormone preproprotein", "refseq_ac": [ { "id": "NP_009048", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009048", "type": "external" } ], "gene_names_uniprotkb": "TRH", "gene_names_refseq": "Pro-TRH; TRF; TRH", "protein_names_uniprotkb": "Pro-thyrotropin-releasing hormone; Pro-TRH; Prothyroliberin; Protirelin; TRF; TSH-releasing factor; Thyroliberin; Thyrotropin-releasing factor", "protein_names_refseq": "TSH-releasing factor; pro-thyrotropin-releasing hormone; prothyroliberin; protirelin; thyrotropin releasing hormone preproprotein; thyrotropin-releasing factor", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763); hypothyroidism (Disease Ontology:DOID:1459)", "pathway": " (hsa:7200); (R-HSA-375276); (R-HSA-416476)", "pathway_count": 3, "publication_count": 125, "publication_id_list": "10079109;10100623;10191087;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10567430;10604470;10727532;10854085;10861009;10899166;11015615;11237011;11322507;11385580;11457843;11562423;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;19825978;2126343;23446738;23690594;24906252;2649896;27496565;2841328;29557506;30081853;3086311;3202875;3366244;33968037;33991314;3525564;36291567;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": "As a component of the hypothalamic-pituitary-thyroid axis, it controls the secretion of thyroid-stimulating hormone (TSH) and is involved in thyroid hormone synthesis regulation. It also operates as modulator of hair growth. It promotes hair-shaft elongation, prolongs the hair cycle growth phase (anagen) and antagonizes its termination (catagen) by TGFB2. It stimulates proliferation and inhibits apoptosis of hair matrix keratinocytes., [UniProtKB, PubMed]; Cg01009664 of TRH as a potential biomarker for oral squamous cell carcinoma and oropharyngeal squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Functions as a regulator of the biosynthesis of TSH in the anterior pituitary gland and as a neurotransmitter/ neuromodulator in the central and peripheral nervous systems., [UniProtKB, UniProtKB]; Identification of the Thyrotropin-Releasing Hormone (TRH) as a Novel Biomarker in the Prognosis for Acute Myeloid Leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; Is the link between elevated TSH and gestational diabetes mellitus dependant on diagnostic criteria and thyroid antibody status: a systematic review and meta-analysis., [RefSeq, PubMed]; This gene encodes a member of the thyrotropin-releasing hormone family. Cleavage of the encoded proprotein releases mature thyrotropin-releasing hormone, which is a tripeptide hypothalamic regulatory hormone. The human proprotein contains six thyrotropin-releasing hormone tripeptides. Thyrotropin-releasing hormone is involved in the regulation and release of thyroid-stimulating hormone, as well as prolactin. Deficiency of this hormone has been associated with hypothalamic hypothyroidism. [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": 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": "B2R8R1;Q2TB83", "ec_number_list": [], "go_molecular_function": "GO:0008437 thyrotropin-releasing hormone activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0030141 secretory granule", "go_biological_process": "GO:0007165 signal transduction;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007267 cell-cell signaling;GO:0009755 hormone-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 12.6, "record_id": "P20396-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P08582-1", "uniprot_id": [ { "id": "TRFM_HUMAN", "url": "https://www.uniprot.org/uniprot/P08582", "type": "external" } ], "mass": 80215.0, "length": 738, "protein_name": "Melanotransferrin", "gene_name": "MELTF", "organism": "Human", "refseq_name": "melanotransferrin isoform 1 preproprotein", "refseq_ac": [ { "id": "NP_005920", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005920", "type": "external" } ], "gene_names_uniprotkb": "MELTF; MAP97; MFI2", "gene_names_refseq": "CD228; MAP97; MELTF; MFI2; MTF1; MTf", "protein_names_uniprotkb": "Melanotransferrin; Melanoma-associated antigen p97", "protein_names_refseq": "antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5; melanotransferrin isoform 1 preproprotein; membrane-bound transferrin-like protein", "tax_id": 9606, "disease": "chromosome 3q29 microdeletion syndrome (Disease Ontology:DOID:0060419)", "pathway": " (hsa:4241); (R-HSA-163125); (R-HSA-381426); (R-HSA-8957275)", "pathway_count": 4, "publication_count": 124, "publication_id_list": "10.1101/2023.09.13.557529;10026136;10077652;10218588;10512690;10614670;10681634;10810289;10898936;10912521;10951195;10990447;11072085;11158056;11237011;11250653;11264294;11316783;11522292;11606061;11739083;11751371;11788658;12241545;12379487;12466191;12810533;12904166;1370451;1383255;15126567;15308688;1544447;15469690;15485880;15525596;15642270;1633859;17047378;17249697;17312271;17985932;21654843;23090970;23481700;24190977;2419904;2443973;2463331;2476804;2479552;25502872;25576301;25645385;26091039;26375851;26758079;26992070;27397612;27600516;27920218;28228285;28514659;28649982;28832583;28834231;28904123;29242379;29632046;29741879;29786170;30833945;31092671;31217245;31530632;31844290;31848261;32157095;32350084;32488085;32502341;32938616;33392160;33592498;33912179;33931586;33968037;34171305;3422494;34357683;34433824;34932366;35051231;35154160;35251023;35561310;35580925;36284347;36303086;37074911;37820570;38326645;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7556058;7588299;7683646;7689487;8300636;8781553;8817670;8894645;8964575;9497324;9709957;9733769;9786878;9922210", "class_list": "", "function": "Characterizing ATP processing by the AAA+ protein p97 at the atomic level., [RefSeq, PubMed]; Involved in iron cellular uptake. Seems to be internalized and then recycled back to the cell membrane. Binds a single atom of iron per subunit. Could also bind zinc., [UniProtKB, PubMed, UniProtKB, UniProtKB]; MELTF Might Regulate Ferroptosis, Pyroptosis, and Autophagy in Platelet-Rich Plasma-Mediated Endometrial Epithelium Regeneration., [RefSeq, PubMed]; The E2F1/MELTF axis fosters the progression of lung adenocarcinoma by regulating the Notch signaling pathway., [RefSeq, PubMed]; The hypoxia sensitive metal transcription factor MTF-1 activates NCX1 brain promoter and participates in remote postconditioning neuroprotection in stroke. Erratum:[Cell Death Dis. 2023 Jul 31;14(7):484. doi: 10.1038/s41419-023-05942-6. PMID: 37524689] Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a cell-surface glycoprotein found on melanoma cells. The protein shares sequence similarity and iron-binding properties with members of the transferrin superfamily. The importance of the iron binding function has not yet been identified. This gene resides in the same region of chromosome 3 as members of the transferrin superfamily. Alternative splicing results in two transcript variants. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 8621, "biomarker_type": "", "glycan_count": 13, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q9BQE2", "ec_number_list": [], "go_molecular_function": "GO:0005506 iron ion binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005769 early endosome;GO:0005788 endoplasmic reticulum lumen;GO:0005886 plasma membrane", "go_biological_process": "GO:0010756 positive regulation of plasminogen activation;GO:1900025 negative regulation of substrate adhesion-dependent cell spreading;GO:0006826 iron ion transport;GO:0090091 positive regulation of extracellular matrix disassembly", "synthesized_glycan_count": 0, "hit_score": 14.1, "record_id": "P08582-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P0U1-1", "uniprot_id": [ { "id": "TOM7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P0U1", "type": "external" } ], "mass": 6248.0, "length": 55, "protein_name": "Mitochondrial import receptor subunit TOM7 homolog", "gene_name": "TOMM7", "organism": "Human", "refseq_name": "mitochondrial import receptor subunit TOM7 homolog", "refseq_ac": [ { "id": "NP_061932", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061932", "type": "external" } ], "gene_names_uniprotkb": "TOMM7; AD-014; TOM7; TOMM07", "gene_names_refseq": "GMPGS; TOM7; TOMM7", "protein_names_uniprotkb": "Mitochondrial import receptor subunit TOM7 homolog; Translocase of outer membrane 7 kDa subunit homolog", "protein_names_refseq": "mitochondrial import receptor subunit TOM7 homolog; translocase of outer membrane 7 kDa subunit homolog; translocase of outer mitochondrial membrane 7 homolog", "tax_id": 9606, "disease": "Garg-Mishra progeroid syndrome (MONDO:MONDO:0957953)", "pathway": " (hsa:54543); (R-HSA-1268020); (R-HSA-5205685)", "pathway_count": 3, "publication_count": 100, "publication_id_list": "10647823;10931946;11237011;12198123;14726512;15254020;15644312;15683237;16185709;16849325;17510655;18174896;18331822;18678864;18802091;19409522;19432818;19453276;19767391;19962426;20126261;20593814;20712405;21115803;21136679;21194381;21617041;21750375;23041349;23597483;23811401;24270810;24660806;24714562;24715725;24751536;24784582;25315652;25418920;25474007;25527497;25576301;25645385;25810538;26116755;26154972;26365381;26697887;26811146;26929215;26992070;27035970;27247382;27600516;28218747;28832583;28904123;29242379;29393594;29394115;29437277;29493099;29557506;29632046;29786170;29995846;30315122;30484775;30733118;30833945;31154438;31222486;31530632;31844290;31848261;32157095;32161166;32296703;32387766;32488085;32897882;32938616;32983136;33392160;33592498;33691108;33912179;34347503;34357683;34932366;35154160;35318648;35580925;36215666;36241641;36282599;36284347;36299998;38287189;40080546", "class_list": "", "function": "Component of the translocase of the outer membrane of mitochondria (TOM) complex essential for the recognition and translocation of cytosolically synthesized mitochondrial preproteins (PubMed:40080546). The TOM complex associates with the ion channel VDAC2 and PINK1 kinase at depolarized mitochondria, this interaction stabilizes PINK1 at the outer mitochondrial membrane and triggers downstream mitophagy by the recruitment of the E3 ubiquitin ligase PRKN (PubMed:40080546)., [UniProtKB, PubMed, PubMed, PubMed]; Levels of Tom22 in mitochondria accelerate the rate of Tom7 assembly into the mature TOM complex., [RefSeq, PubMed]; Mitochondrial membrane potential loss-dependent PINK1 import arrest does not result solely from Tim23 inactivation but also through an actively regulated 'tug of war' between Tom7 and OMA1., [RefSeq, PubMed]; The receptor subunit Tom20 is dynamically associated with the TOM complex in mitochondria of human cells., [RefSeq, PubMed]; This gene encodes a subunit of the translocase of the outer mitochondrial membrane. The encoded protein regulates the assembly and stability of the translocase complex. [provided by RefSeq, Oct 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "O95939", "ec_number_list": [], "go_molecular_function": "GO:0008320 protein transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005742 mitochondrial outer membrane translocase complex", "go_biological_process": "GO:0045040 protein insertion into mitochondrial outer membrane;GO:1903955 positive regulation of protein targeting to mitochondrion;GO:0031647 regulation of protein stability;GO:0030150 protein import into mitochondrial matrix;GO:1905091 positive regulation of type 2 mitophagy", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "Q9P0U1-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6QAJ8-1", "uniprot_id": [ { "id": "TM220_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6QAJ8", "type": "external" } ], "mass": 17754.0, "length": 160, "protein_name": "Transmembrane protein 220", "gene_name": "TMEM220", "organism": "Human", "refseq_name": "transmembrane protein 220 isoform 1", "refseq_ac": [ { "id": "NP_001004313", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004313", "type": "external" } ], "gene_names_uniprotkb": "TMEM220", "gene_names_refseq": "TMEM220", "protein_names_uniprotkb": "Transmembrane protein 220", "protein_names_refseq": "transmembrane protein 220 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:388335)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;25576301;27329150;32502341;34321624;34622496;35051231", "class_list": "", "function": "Downregulation of TMEM220 promotes tumor progression in Hepatocellular Carcinoma., [RefSeq, PubMed]; MAL and TMEM220 were specifically methylated and were down-regulated in human gastric cancer, [RefSeq, PubMed]; Prognostic signatures and potential pathogenesis of eRNAs-related genes in colon adenocarcinoma., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A1YRJ4;B2RNE4;B4DJ52;B9EGW3", "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": "Q6QAJ8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q969P6-1", "uniprot_id": [ { "id": "TOP1M_HUMAN", "url": "https://www.uniprot.org/uniprot/Q969P6", "type": "external" } ], "mass": 69872.0, "length": 601, "protein_name": "DNA topoisomerase I, mitochondrial", "gene_name": "TOP1MT", "organism": "Human", "refseq_name": "DNA topoisomerase I, mitochondrial isoform 2", "refseq_ac": [ { "id": "NP_001245375", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001245375", "type": "external" } ], "gene_names_uniprotkb": "TOP1MT", "gene_names_refseq": "TOP1MT", "protein_names_uniprotkb": "DNA topoisomerase I, mitochondrial; 5.6.2.1; TOP1mt", "protein_names_refseq": "DNA topoisomerase I, mitochondrial isoform 2; mitochondrial topoisomerase IB; topoisomerase (DNA) I, mitochondrial", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:116447)", "pathway_count": 1, "publication_count": 59, "publication_id_list": "11237011;11526219;20068231;23481700;24715725;25418920;25576301;25880248;26992070;27600516;27846572;27920218;28218747;28228285;28514659;28834231;28904123;29242379;29493099;29508533;29557506;29632711;29786170;30379171;30410026;30484775;30524438;30779550;30833945;31530632;31844290;31848261;32157095;32357974;32387766;32488085;32502341;32897882;32983136;33123756;33298915;33592498;33912179;33936100;33968037;33981976;34087483;34171305;34405274;34509645;34932366;35051231;35580925;36010968;36030054;36215039;36284347;37129502;37923603", "class_list": "", "function": "Activation of the cGAS-STING innate immune response in cells with deficient mitochondrial topoisomerase TOP1MT., [RefSeq, PubMed]; Association of TOP1MT with immune infiltration and checkpoint in colorectal cance., [RefSeq, PubMed]; Functional characterization of two variants of mitochondrial topoisomerase TOP1MT that impact regulation of the mitochondrial genome., [RefSeq, PubMed]; Releases the supercoiling and torsional tension of DNA introduced during duplication of mitochondrial DNA by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at a target site in duplex DNA. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(3'-phosphotyrosyl)-enzyme intermediate and the expulsion of a 5'-OH DNA strand. The free DNA strand then rotates around the intact phosphodiester bond on the opposing strand, thus removing DNA supercoils. Finally, in the religation step, the DNA 5'-OH attacks the covalent intermediate to expel the active-site tyrosine and restore the DNA phosphodiester backbone (By similarity)., [UniProtKB, PubMed]; Releases the supercoiling and torsional tension of DNA introduced during the DNA replication and transcription by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at the specific target site 5'-[CT]CCTTp site in duplex DNA. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(3'-phosphotyrosyl)-enzyme intermediate and the expulsion of a 5'-OH DNA strand. The free DNA strand then undergoes passage around the unbroken strand thus removing DNA supercoils. Finally, in the religation step, the DNA 5'-OH attacks the covalent intermediate to expel the active-site tyrosine and restore the DNA phosphodiester backbone., [UniProtKB, UniProtKB]; This gene encodes a mitochondrial DNA topoisomerase that plays a role in the modification of DNA topology. The encoded protein is a type IB topoisomerase and catalyzes the transient breaking and rejoining of DNA to relieve tension and DNA supercoiling generated in the mitochondrial genome during replication and transcription. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]., [RefSeq]; Two type I topoisomerases maintain DNA topology in human mitochondria., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B7ZAR5;E7ES89;Q86ST4;Q86V82", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003917 DNA topoisomerase type I (single strand cut, ATP-independent) activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0042645 mitochondrial nucleoid;GO:0005694 chromosome", "go_biological_process": "GO:0006260 DNA replication;GO:0006265 DNA topological change", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q969P6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96RU2-1", "uniprot_id": [ { "id": "UBP28_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96RU2", "type": "external" } ], "mass": 122491.0, "length": 1077, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 28", "gene_name": "USP28", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 28 isoform h", "refseq_ac": [ { "id": "NP_001333187", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333187", "type": "external" } ], "gene_names_uniprotkb": "USP28; KIAA1515", "gene_names_refseq": "USP28", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 28; 3.4.19.12; Deubiquitinating enzyme 28; Ubiquitin thioesterase 28; Ubiquitin-specific-processing protease 28", "protein_names_refseq": "deubiquitinating enzyme 28; ubiquitin carboxyl-terminal hydrolase 28 isoform h; ubiquitin thioesterase 28; ubiquitin thiolesterase 28; ubiquitin-specific-processing protease 28", "tax_id": 9606, "disease": "", "pathway": " (hsa:57646); (R-HSA-5689880)", "pathway_count": 2, "publication_count": 109, "publication_id_list": "10.1101/2023.09.13.557529;10444327;10982817;11237011;11566882;11597335;11923872;12917689;12917691;14661020;15053880;15916963;16214042;16901786;16964248;17290220;17443180;17525332;17558397;17873522;17980597;17981138;18172164;18467330;18632802;18636086;18662541;19015242;19135894;19188362;19363159;19398555;19424180;19838211;19874889;19910467;20046830;20068231;20096447;20228808;20368735;20501646;21239494;21362556;21571647;21596315;21659512;21849505;21962518;22029577;22085928;22128162;22216260;23159851;23186163;23301498;23395819;23486064;23824326;23825189;24056413;24260525;24275569;24493797;24623306;24715725;24896179;25197364;25305019;25578727;26154972;26811146;26992070;27600516;28904123;29557506;30418433;30484775;31092671;31844290;31938050;32157095;32357974;32488085;32502341;32897882;32938616;32983136;33298915;33592498;33691108;33912179;33968037;33981976;34087483;34171305;34185709;35051231;35580925;36010968;36215666;36241641;37230388;37450415;37938771;38227944;38498222;38547292;7578059", "class_list": "", "function": "Comprehensive prognostic and immunological analysis of Ubiquitin Specific Peptidase 28 in pan-cancers and identification of its role in hepatocellular carcinoma cell lines., [RefSeq, PubMed]; Control of cell proliferation by memories of mitosis., [RefSeq, PubMed]; Deubiquitinase involved in DNA damage response checkpoint and MYC proto-oncogene stability. Involved in DNA damage induced apoptosis by specifically deubiquitinating proteins of the DNA damage pathway such as CLSPN. Also involved in G2 DNA damage checkpoint, by deubiquitinating CLSPN, and preventing its degradation by the anaphase promoting complex/cyclosome (APC/C). In contrast, it does not deubiquitinate PLK1. Specifically deubiquitinates MYC in the nucleoplasm, leading to prevent MYC degradation by the proteasome: acts by specifically interacting with isoform 1 of FBXW7 (FBW7alpha) in the nucleoplasm and counteracting ubiquitination of MYC by the SCF(FBW7) complex. In contrast, it does not interact with isoform 4 of FBXW7 (FBW7gamma) in the nucleolus, allowing MYC degradation and explaining the selective MYC degradation in the nucleolus. Deubiquitinates ZNF304, hence preventing ZNF304 degradation by the proteasome and leading to the activated KRAS-mediated promoter hypermethylation and transcriptional silencing of tumor suppressor genes (TSGs) in a subset of colorectal cancers (CRC) cells (PubMed:24623306)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; High expression levels of USP28 are found in colon and breast carcinomas, and stabilization of MYC by USP28 is essential for tumour-cell proliferation., [RefSeq, PubMed]; Molecular cloning of USP28 & characterization of alternatively spliced products and tissue-specific isoforms, [RefSeq, PubMed]; The deubiquitinase USP28 maintains the expression of the transcription factor MYCN and is essential in neuroblastoma cells., [RefSeq, PubMed]; The dimeric deubiquitinase USP28 integrates 53BP1 and MYC functions to limit DNA damage., [RefSeq, PubMed]; The protein encoded by this gene is a deubiquitinase involved in the DNA damage pathway and DNA damage-induced apoptosis. Overexpression of this gene is seen in several cancers. [provided by RefSeq, Oct 2016]., [RefSeq]; USP28 promotes tumorigenesis and cisplatin resistance by deubiquitinating MAST1 protein in cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; Using a human cell line that faithfully recapitulated the Chk2-p53-PUMA pathway, we show that USP28 is required to stabilize Chk2 and 53BP1 in response to DNA damage., [RefSeq, PubMed]; Usp28 dissociates from Fbw7alpha in response to UV irradiation, providing a mechanism how Fbw7-mediated degradation of Myc is enhanced upon DNA damage., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 7, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 44, "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": "B0YJC0;B0YJC1;Q6NZX9;Q9P213", "ec_number_list": [ { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" } ], "go_molecular_function": "GO:0004843 cysteine-type deubiquitinase activity;GO:0101005 deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0016604 nuclear body;GO:0032991 protein-containing complex", "go_biological_process": "GO:0006281 DNA repair;GO:0008283 cell population proliferation;GO:0016579 protein deubiquitination;GO:0006974 DNA damage response;GO:0042771 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "Q96RU2-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T215-1", "uniprot_id": [ { "id": "TPC3L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T215", "type": "external" } ], "mass": 20566.0, "length": 181, "protein_name": "Trafficking protein particle complex subunit 3-like protein", "gene_name": "TRAPPC3L", "organism": "Human", "refseq_name": "trafficking protein particle complex subunit 3-like protein", "refseq_ac": [ { "id": "NP_001132916", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001132916", "type": "external" } ], "gene_names_uniprotkb": "TRAPPC3L; BET3L", "gene_names_refseq": "BET3L; TRAPPC3L; bA259P20.2", "protein_names_uniprotkb": "Trafficking protein particle complex subunit 3-like protein; BET3-like protein; TRAPPC3-like protein", "protein_names_refseq": "BET3-like protein; TRAPPC3-like protein; trafficking protein particle complex 3 like; trafficking protein particle complex subunit 3 like; trafficking protein particle complex subunit 3-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:100128327)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;21525244;25576301;30484775;33392160", "class_list": "", "function": "May play a role in vesicular transport from endoplasmic reticulum to Golgi., [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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5T213;Q5T214", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0033106 cis-Golgi network membrane;GO:0030008 TRAPP complex;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0006891 intra-Golgi vesicle-mediated transport;GO:0048193 Golgi vesicle transport", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q5T215-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H6X4-1", "uniprot_id": [ { "id": "TM134_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H6X4", "type": "external" } ], "mass": 21586.0, "length": 195, "protein_name": "Transmembrane protein 134", "gene_name": "TMEM134", "organism": "Human", "refseq_name": "transmembrane protein 134 isoform b", "refseq_ac": [ { "id": "NP_001072118", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001072118", "type": "external" } ], "gene_names_uniprotkb": "TMEM134", "gene_names_refseq": "TMEM134", "protein_names_uniprotkb": "Transmembrane protein 134", "protein_names_refseq": "transmembrane protein 134 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:80194)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;22855487;27899274;28218747;28904123;29437277;31848261;32157095", "class_list": "", "function": "Screen identified a novel LMP1-binding protein, transmembrane protein 134; Tmem134 affected LMP1-induced NF-kappaB induction, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q08AK4;Q6PJN3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0016020 membrane;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q9H6X4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P0T7-1", "uniprot_id": [ { "id": "TMEM9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P0T7", "type": "external" } ], "mass": 20574.0, "length": 183, "protein_name": "Proton-transporting V-type ATPase complex assembly regulator TMEM9", "gene_name": "TMEM9", "organism": "Human", "refseq_name": "proton-transporting V-type ATPase complex assembly regulator TMEM9 isoform b precursor", "refseq_ac": [ { "id": "NP_001275499", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275499", "type": "external" } ], "gene_names_uniprotkb": "TMEM9; DERP4; HSPC186; PRO1248; PSEC0012; TMEM9A", "gene_names_refseq": "DERM4; TMEM9A; TMEM9", "protein_names_uniprotkb": "Proton-transporting V-type ATPase complex assembly regulator TMEM9; Dermal papilla-derived protein 4; Protein TMEM9; Transmembrane protein 9; v-ATPase assembly regulator TMEM9", "protein_names_refseq": "dermal papilla-derived protein 4; proton-transporting V-type ATPase complex assembly regulator TMEM9 isoform b precursor; proton-transporting V-type ATPase complex assembly regulator TMEM9; v-ATPase assembly regulator TMEM9", "tax_id": 9606, "disease": "", "pathway": " (hsa:252839)", "pathway_count": 1, "publication_count": 53, "publication_id_list": "10.1101/2023.09.13.557529;11230166;11237011;12359240;12975309;16303743;18541524;18578522;18669648;19651622;19690332;20068231;21406692;23186163;24190977;25645385;26992070;27220462;27397612;28904123;29557506;29741879;30059200;30119033;30374053;30429286;31154438;31611695;31844290;32157095;32350084;32357974;32380568;32938616;33968037;34019948;34087483;34171305;34357683;34846842;35251023;35254053;35289036;35318648;35580925;36010968;36215666;36336962;36596527;37541260;38664392;39078420;41018975", "class_list": "", "function": "Lysosomal TMEM9-LAMTOR4-controlled mTOR signaling integrity is required for mammary tumorigenesis., [RefSeq, PubMed]; Phylogenetically conserved, widely expressed transmembrane protein with a potential, but unknown function in intracellular transport that localizes to lysosomes and late endosomes, [RefSeq, PubMed]; TMEM9 activates Rab9-dependent alternative autophagy through interaction with Beclin1. Publication Status: Online-Only, [RefSeq, PubMed]; TMEM9 knockdown by RNA interference resulted in G1 arrest., [RefSeq, PubMed]; TMEM9 plays a significant role in TNF-alpha-enhanced cytokines (IL-6 and IL-1beta) secretion in LX-2 cells and that the canonical Wnt/beta-catenin signaling pathway is involved in the induction of these cytokine expressions., [RefSeq, PubMed]; TMEM9 promotes lung adenocarcinoma progression via activating the MEK/ERK/STAT3 pathway to induce VEGF expression. Publication Status: Online-Only, [RefSeq, PubMed]; TMEM9B is a key component of inflammatory signaling pathways and suggest that endosomal or lysosomal compartments regulate these pathways, [RefSeq, PubMed]; Transmembrane protein that binds to and facilitates the assembly of lysosomal proton-transporting V-type ATPase (v-ATPase), resulting in enhanced lysosomal acidification and trafficking (PubMed:30374053). By bringing the v-ATPase accessory protein ATP6AP2 and the v-ATPase subunit ATP6V0D1 together, allows v-ATPase complex formation and activation (PubMed:30374053). TMEM9-controlled vesicular acidification induces hyperactivation of Wnt/beta-catenin signaling, involved in development, tissue homeostasis and tissue regeneration, through lysosomal degradation of adenomatous polyposis coli/APC (PubMed:30374053, PubMed:32380568). In the liver, involved in hepatic regeneration (PubMed:32380568)., [UniProtKB, PubMed, PubMed]; Tumor-Promoting Properties of TMEM9A in Breast Cancer Progression via Activating the Wnt/beta-Catenin Signaling Pathway., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 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": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B1ALM6;Q96NQ9;Q9BQF5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005764 lysosome;GO:0005765 lysosomal membrane;GO:0005770 late endosome;GO:0032585 multivesicular body membrane", "go_biological_process": "GO:0015031 protein transport;GO:0090263 positive regulation of canonical Wnt signaling pathway;GO:0048388 endosomal lumen acidification;GO:0007042 lysosomal lumen acidification;GO:0042176 regulation of protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q9P0T7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86UV7-1", "uniprot_id": [ { "id": "TRI73_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86UV7", "type": "external" } ], "mass": 28517.0, "length": 250, "protein_name": "Tripartite motif-containing protein 73", "gene_name": "TRIM73", "organism": "Human", "refseq_name": "tripartite motif-containing protein 73", "refseq_ac": [ { "id": "NP_944606", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_944606", "type": "external" } ], "gene_names_uniprotkb": "TRIM73; TRIM50B", "gene_names_refseq": "TRIM50B; TRIM73", "protein_names_uniprotkb": "Tripartite motif-containing protein 73; Tripartite motif-containing protein 50B", "protein_names_refseq": "tripartite motif-containing protein 50B; tripartite motif-containing protein 73", "tax_id": 9606, "disease": "", "pathway": " (hsa:375593)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;18398435", "class_list": "", "function": "Maps within the critical region of Williams-Beuren syndrome., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q8N0S3", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0045087 innate immune response", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q86UV7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "B7Z8K6-1", "uniprot_id": [ { "id": "TRDC_HUMAN", "url": "https://www.uniprot.org/uniprot/B7Z8K6", "type": "external" } ], "mass": 17085.0, "length": 153, "protein_name": "T cell receptor delta constant", "gene_name": "TRDC", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRDC", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor delta constant", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 11, "publication_id_list": "11237011;11459064;23348415;24387714;24600447;25674089;28920588;32561536;32983136;3413078;35051231", "class_list": "", "function": "Constant region of T cell receptor (TR) delta chain that participates in the antigen recognition (PubMed:24600447). Gamma-delta TRs recognize a variety of self and foreign non-peptide antigens frequently expressed at the epithelial boundaries between the host and external environment, including endogenous lipids presented by MH-like protein CD1D and phosphoantigens presented by butyrophilin-like molecule BTN3A1. Upon antigen recognition induces rapid, innate-like immune responses involved in pathogen clearance and tissue repair (PubMed:23348415, PubMed:28920588). Binding of gamma-delta TR complex to antigen triggers phosphorylation of immunoreceptor tyrosine-based activation motifs (ITAMs) in the CD3 chains by the LCK and FYN kinases, allowing the recruitment, phosphorylation, and activation of ZAP70 that facilitates phosphorylation of the scaffolding proteins LCP2 and LAT. This lead to the formation of a supramolecular signalosome that recruits the phospholipase PLCG1, resulting in calcium mobilization and ERK activation, ultimately leading to T cell expansion and differentiation into effector cells (PubMed:25674089). Gamma-delta TRs are produced through somatic rearrangement of a limited repertoire of variable (V), diversity (D), and joining (J) genes. The potential diversity of gamma-delta TRs is conferred by the unique ability to rearrange (D) genes in tandem and to utilize all three reading frames. The combinatorial diversity is considerably increased by the sequence exonuclease trimming and random nucleotide (N) region additions which occur during the V-(D)-J rearrangements (PubMed:24387714)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 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": 2, "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_cellular_component": "GO:0005886 plasma membrane;GO:0042101 T cell receptor complex;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0050852 T cell receptor signaling pathway;GO:0002250 adaptive immune response;GO:0046629 gamma-delta T cell activation", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "B7Z8K6-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86WS5-1", "uniprot_id": [ { "id": "TMPSC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86WS5", "type": "external" } ], "mass": 38605.0, "length": 348, "protein_name": "Transmembrane protease serine 12", "gene_name": "TMPRSS12", "organism": "Human", "refseq_name": "transmembrane protease serine 12 precursor", "refseq_ac": [ { "id": "NP_872365", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872365", "type": "external" } ], "gene_names_uniprotkb": "TMPRSS12", "gene_names_refseq": "CT151; TMPRSS12", "protein_names_uniprotkb": "Transmembrane protease serine 12; 3.4.21.-", "protein_names_refseq": "testicular tissue protein Li 208; transmembrane (C-terminal) protease, serine 12; transmembrane protease serine 12 precursor; transmembrane protease, serine 12", "tax_id": 9606, "disease": "", "pathway": " (hsa:283471)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;23436708;35051231;35547804;36215666", "class_list": "", "function": "Required for male fertility (By similarity). Plays a critical role in sperm capacitation and acrosome reactions during fertilization, and also plays a role in the regulation of proteins involved in spermatogenesis (By similarity). Regulates protein pathways that promote chromosomal synapsis formation, double-strand break repair, formation of the inner mitochondrial membrane cristae and apoptosis in developing sperm (By similarity). Required for normal sperm motility and binding to the zona pellucida, potentially via a role in ADAM3 protein maturation (By similarity)., [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": 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": "B9ZVX2", "ec_number_list": [], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0001669 acrosomal vesicle", "go_biological_process": "GO:0007283 spermatogenesis;GO:0016485 protein processing;GO:0007338 single fertilization;GO:0001675 acrosome assembly;GO:1902492 positive regulation of sperm capacitation", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q86WS5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z402-1", "uniprot_id": [ { "id": "TMC7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z402", "type": "external" } ], "mass": 83502.0, "length": 723, "protein_name": "Transmembrane channel-like protein 7", "gene_name": "TMC7", "organism": "Human", "refseq_name": "transmembrane channel-like protein 7 isoform b", "refseq_ac": [ { "id": "NP_001153836", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153836", "type": "external" } ], "gene_names_uniprotkb": "TMC7", "gene_names_refseq": "TMC7", "protein_names_uniprotkb": "Transmembrane channel-like protein 7", "protein_names_refseq": "transmembrane channel-like protein 7 isoform b; transmembrane channel-like protein 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:79905)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12812529;12906855;23186163;28411811;29557506;31844290;32157095;32938616;33968037;34171305;34185709;35051231;36713450;38568807", "class_list": "", "function": "Acts as an inhibitory modulator of PIEZO2 mechanosensitive channel in dorsal root ganglion (DRG) neurons through physical interactions or interference with the interaction between PIEZO2 and the cytoskeleton., [UniProtKB, UniProtKB]; Identification of EMT-related alternative splicing event of TMC7 to promote invasion and migration of pancreatic cancer. Publication Status: Online-Only, [RefSeq, PubMed]; TMC7 functions as a suppressor of Piezo2 in primary sensory neurons blunting peripheral mechanotransduction., [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 38, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "E7ERB6;Q5H9Q8;Q7Z5M4;Q86WX0;Q9H766", "ec_number_list": [], "go_molecular_function": "GO:0008200 ion channel inhibitor activity;GO:0008381 mechanosensitive monoatomic ion channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043025 neuronal cell body", "go_biological_process": "GO:0050954 sensory perception of mechanical stimulus", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q7Z402-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6NUQ4-1", "uniprot_id": [ { "id": "TM214_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6NUQ4", "type": "external" } ], "mass": 77151.0, "length": 689, "protein_name": "Transmembrane protein 214", "gene_name": "TMEM214", "organism": "Human", "refseq_name": "transmembrane protein 214 isoform 2", "refseq_ac": [ { "id": "NP_001077059", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001077059", "type": "external" } ], "gene_names_uniprotkb": "TMEM214; PP446", "gene_names_refseq": "TMEM214", "protein_names_uniprotkb": "Transmembrane protein 214", "protein_names_refseq": "transmembrane protein 214 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:54867)", "pathway_count": 1, "publication_count": 84, "publication_id_list": "10.1101/2023.09.13.557529;11237011;15498874;19651622;20068231;23661706;24366607;24714562;24715725;25576301;26154972;26992070;27600516;27846572;27862975;27920218;28218747;28228285;28510447;28832583;28834231;28855257;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30410026;30429286;30484775;30524438;30779550;31217245;31844290;31848261;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34211107;34357683;34509645;34561969;34932366;35051231;35154160;35561310;35580925;36010968;36215666;36241641;36284347;37217939;37938771;38665916;40914422", "class_list": "", "function": "Critical mediator, in cooperation with CASP4, of endoplasmic reticulum-stress induced apoptosis. Required or the activation of CASP4 following endoplasmic reticulum stress., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; TMEM214 is essential for endoplasmic reticulum (ER) stress-induced apoptosis by acting as an anchor for recruitment of procaspase 4 to the ER and its subsequent activation., [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": 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": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "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": "A6NNF2;B3KUI9;B5MCD8;D6W547;Q53SW1;Q69YH4;Q8NC45;Q8WZ37;Q9NXH2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005789 endoplasmic reticulum membrane;GO:0005881 cytoplasmic microtubule", "go_biological_process": "GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q6NUQ4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NVE5-1", "uniprot_id": [ { "id": "UBP40_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NVE5", "type": "external" } ], "mass": 140130.0, "length": 1235, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 40", "gene_name": "USP40", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 40 isoform 2", "refseq_ac": [ { "id": "NP_060688", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060688", "type": "external" } ], "gene_names_uniprotkb": "USP40", "gene_names_refseq": "USP40", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 40; 3.4.19.12; Deubiquitinating enzyme 40; Ubiquitin thioesterase 40; Ubiquitin-specific-processing protease 40", "protein_names_refseq": "deubiquitinating enzyme 40; ubiquitin carboxyl-terminal hydrolase 40 isoform 2; ubiquitin carboxyl-terminal hydrolase 40; ubiquitin specific protease 40; ubiquitin thioesterase 40; ubiquitin thiolesterase 40; ubiquitin-specific-processing protease 40", "tax_id": 9606, "disease": "", "pathway": " (hsa:55230)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "11237011;14715245;16917932;24715725;25645385;26992070;27846572;28832583;28904123;29508533;29557506;29930882;30429286;30484775;30779550;31046799;31844290;31848261;32157095;32357974;32502341;32938616;33537174;33592498;33912179;33968037;33981976;35051231;35580925;36010968;36241641;38307937;38308285;38537774", "class_list": "", "function": "Da suggest that genetic variants in USP40 affect the risk for late-onset Parkinson disease (PD), which is consistent with the predicted role of the ubiquitination pathway in PD etiology. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Deubiquitinating enzyme that plays a key role in maintaining endothelial cell (EC) barrier integrity and regulating apoptosis and inflammation. Stabilizes Claudin-1/CLDN1 by cleaving its polyubiquitin chains, thereby protecting tight junction structure (PubMed:38308285). Prevents EC barrier disruption by inhibiting RhoA activation and reducing phosphorylation of myosin light chain and cofilin. Suppresses EC inflammation by inhibiting NF-kappa-B activation, decreasing ICAM1 expression, and reducing leukocyte adhesion to ECs (PubMed:38307937). Mediates these protective effects in part via deubiquitination and inactivation of heat shock protein 90-beta/HSP90AB1 (PubMed:38307937). Targets CFLAR for 'Lys-48'-linked deubiquitination, stabilizing its protein levels. This interaction is facilitated by the adapter protein GMEB1, which enhances USP40-CFLAR binding. Through CFLAR stabilization, USP40 inhibits pro-caspase-8 activation and protects against apoptosis (PubMed:31046799). Additionally, USP40 stabilizes HINT1, an activator of p53/TP53, thereby maintaining p53/TP53 levels and sustaining the HINT1-p53/TP53 axis (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP40 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Mar 2008]., [RefSeq]; Our findings show the de-ubiquitinase USP40 regulates the ubiquitination and degradation of CFLARL; and GMEB1 acts as a bridge protein for USP40 and CFLARL. Mechanistically, we found GMEB1 inhibits the activation of CASP8 by modulating ubiquitination and degradation of CFLARL Publication Status: Online-Only, [RefSeq, PubMed]; USP40 promotes hepatocellular carcinoma cell proliferation, migration and stemness by deubiquitinating and stabilizing Claudin1. Publication Status: Online-Only, [RefSeq, PubMed]; USP40 promotes hepatocellular carcinoma progression through a YAP/USP40 positive feedback loop., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6NX38;Q70EL0", "ec_number_list": [], "go_molecular_function": "GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0043066 negative regulation of apoptotic process;GO:0031647 regulation of protein stability", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q9NVE5-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P2H8-1", "uniprot_id": [ { "id": "TMM53_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P2H8", "type": "external" } ], "mass": 31630.0, "length": 277, "protein_name": "Transmembrane protein 53", "gene_name": "TMEM53", "organism": "Human", "refseq_name": "transmembrane protein 53 isoform 2", "refseq_ac": [ { "id": "NP_001287675", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287675", "type": "external" } ], "gene_names_uniprotkb": "TMEM53; NET4", "gene_names_refseq": "CTDI; NET4; TMEM53", "protein_names_uniprotkb": "Transmembrane protein 53; Nuclear envelope transmembrane protein 4", "protein_names_refseq": "novel DUF829 domain-containing protein; nuclear envelope transmembrane protein 4; transmembrane protein 53 isoform 2", "tax_id": 9606, "disease": "craniotubular dysplasia Ikegawa type (Disease Ontology:DOID:0112340)", "pathway": " (hsa:79639)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11237011;25418920;26154972;26811146;27920218;28218747;28514659;28832583;28834231;29242379;29393594;29437277;30315122;31530632;31844290;31848261;32157095;32938616;33592498;33824347;33912179;33968037;34357683", "class_list": "", "function": "Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Ensures normal bone formation, through the negative regulation of bone morphogenetic protein (BMP) signaling in osteoblast lineage cells by blocking cytoplasm-nucleus translocation of phosphorylated SMAD1/5/9 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B4DKG0;Q5JPH2;Q6IA07;Q9H6E2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0031965 nuclear membrane;GO:0005640 nuclear outer membrane", "go_biological_process": "GO:0046822 regulation of nucleocytoplasmic transport;GO:0030514 negative regulation of BMP signaling pathway;GO:0045668 negative regulation of osteoblast differentiation;GO:0030279 negative regulation of ossification", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q6P2H8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96BF3-1", "uniprot_id": [ { "id": "TMIG2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96BF3", "type": "external" } ], "mass": 30675.0, "length": 282, "protein_name": "Transmembrane and immunoglobulin domain-containing protein 2", "gene_name": "TMIGD2", "organism": "Human", "refseq_name": "transmembrane and immunoglobulin domain-containing protein 2 isoform 3", "refseq_ac": [ { "id": "NP_001295161", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295161", "type": "external" } ], "gene_names_uniprotkb": "TMIGD2; CD28H; IGPR1; PRO9879", "gene_names_refseq": "CD28H; IGPR-1; IGPR1; TMIGD2", "protein_names_uniprotkb": "Transmembrane and immunoglobulin domain-containing protein 2; CD28 homolog; IGPR-1; Immunoglobulin and proline-rich receptor 1", "protein_names_refseq": "CD28 homologue; CD28 homolog; immunoglobulin and proline-rich receptor 1; immunoglobulin-containing and proline-rich receptor 1; transmembrane and immunoglobulin domain-containing protein 2 isoform 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:126259)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;12975309;15340161;19690332;22419821;23784006;27838321;28920928;30548441;31089395;31341021;32978258;33962630;35175496;35933091;37261362", "class_list": "", "function": "Authors identified IGPR-1, also called TMIGD2, gene as a novel cell adhesion receptor that is expressed in various human organs and tissues, mainly in cells with epithelium and endothelium origins., [RefSeq, PubMed]; B7 homologue 5 (B7-H5), was identified as a specific ligand for CD28H., [RefSeq, PubMed]; B7-H5/CD28H is a co-stimulatory signal pathway, and expression of B7-H5 is associated with improved disease prognosis in patients with pancreatic cancer., [RefSeq, PubMed]; Cell adhesion molecule IGPR-1 activates AMPK connecting cell adhesion to autophagy., [RefSeq, PubMed]; HHLA2 Activates the JAK/STAT Signaling Pathway by Binding to TMIGD2 in Hepatocellular Carcinoma Cells., [RefSeq, PubMed]; High TMIGD2 expression levels in oral squamous cell carcinoma cells indicate poor prognosis. TMIGD2 expression inversely correlated with the TIM3, LAG3, and B7H3 levels. Publication Status: Online-Only, [RefSeq, PubMed]; KIR3DL3-HHLA2 and TMIGD2-HHLA2 pathways: The dual role of HHLA2 in immune responses and its potential therapeutic approach for cancer immunotherapy. Review article, [RefSeq, PubMed]; NEDD4 regulates ubiquitination and stability of the cell adhesion molecule IGPR-1 via lysosomal pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in cell-cell interaction, cell migration, and angiogenesis. Through interaction with HHLA2, costimulates T-cells in the context of TCR-mediated activation. Enhances T-cell proliferation and cytokine production via an AKT-dependent signaling cascade., [UniProtKB, PubMed, PubMed]; TMIGD2 as a potential therapeutic target in glioma patients. Publication Status: Online-Only, [RefSeq, PubMed]; The authors demonstrate that IGPR-1 is localized to endothelial adherens junctions and, through trans-homophilic dimerization, regulates endothelial cell-cell adhesion and barrier function., [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": 4, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q6UW59", "ec_number_list": [], "go_molecular_function": "GO:0015026 coreceptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043005 neuron projection", "go_biological_process": "GO:0031295 T cell costimulation;GO:0045766 positive regulation of angiogenesis;GO:0001819 positive regulation of cytokine production;GO:0042104 positive regulation of activated T cell proliferation", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q96BF3-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15393-1", "uniprot_id": [ { "id": "TMPS2_HUMAN", "url": "https://www.uniprot.org/uniprot/O15393", "type": "external" } ], "mass": 53859.0, "length": 492, "protein_name": "Transmembrane protease serine 2", "gene_name": "TMPRSS2", "organism": "Human", "refseq_name": "transmembrane protease serine 2 isoform 1", "refseq_ac": [ { "id": "NP_001128571", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128571", "type": "external" } ], "gene_names_uniprotkb": "TMPRSS2; PRSS10", "gene_names_refseq": "PRSS10; TMPRSS2", "protein_names_uniprotkb": "Transmembrane protease serine 2; 3.4.21.122; Serine protease 10", "protein_names_refseq": "epitheliasin; serine protease 10; transmembrane protease serine 2 isoform 1; transmembrane protease, serine 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:7113); (R-HSA-9678110); (R-HSA-9694614); (R-HSA-9733458)", "pathway_count": 4, "publication_count": 104, "publication_id_list": "11169526;11237011;11245484;11414763;14647384;15010527;15140961;15163706;15474033;15537383;16166518;16962401;17918732;19321428;20382709;20926566;21068237;21325420;22496216;22816037;23105391;23536651;23966399;24027332;24227843;25122198;26018085;26311884;26953343;27277342;27550352;29557506;29741879;30237853;32125455;32142651;32149769;32179150;32327758;32345140;32362314;32404436;32437018;32512386;32532959;32653452;32660890;32703818;32721790;32942285;32970989;32995803;33051876;33082293;33082294;33298900;33303459;33309272;33310888;33493182;33493263;33494095;33497607;33522642;33554856;33581114;33609497;33774649;33827113;33890572;34023935;34052578;34087483;34159616;34171305;34179075;34213849;34235261;34235568;34324210;34431042;34504087;34510494;34528721;34542788;34561887;34611326;34613786;34732583;34782609;34929169;35051231;35343766;35676539;37074911;37990007;38868968;38964326;38964328;38964329;38964470;39183295;39280326;9325052", "class_list": "", "function": "(Microbial infection) Facilitates human coronaviruses SARS-CoV and SARS-CoV-2 infections via two independent mechanisms, proteolytic cleavage of ACE2 receptor which promotes viral uptake, and cleavage of coronavirus spike glycoproteins which activates the glycoprotein for host cell entry (PubMed:24227843, PubMed:32142651, PubMed:32404436, PubMed:33051876, PubMed:34159616, PubMed:35676539, PubMed:37990007). The cleavage of SARS-COV2 spike glycoprotein occurs between the S2 and S2' site (PubMed:32703818). Upon SARS-CoV-2 infection, increases syncytia formation by accelerating the fusion process (PubMed:33051876, PubMed:34159616, PubMed:35676539). Proteolytically cleaves and activates the spike glycoproteins of human coronavirus 229E (HCoV-229E) and human coronavirus EMC (HCoV-EMC) and the fusion glycoproteins F0 of Sendai virus (SeV), human metapneumovirus (HMPV), human parainfluenza 1, 2, 3, 4a and 4b viruses (HPIV). Essential for spread and pathogenesis of influenza A virus (strains H1N1, H3N2 and H7N9); involved in proteolytic cleavage and activation of hemagglutinin (HA) protein which is essential for viral infectivity., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; (Microbial infection) Receptor for human coronavirus HKU1-CoV, acts synergistically with disialoside glycans to facilitate the entry of the virus. After binding to cell-surface disialoside glycans, the viral S protein interacts with the inactive form of TMPRSS2 and inhibits its protease activity., [UniProtKB, PubMed, PubMed, PubMed]; Association of ACE2 and TMPRSS2 genes variants with disease severity and most important biomarkers in COVID-19 patients in Bosnia and Herzegovina., [RefSeq, PubMed]; No evidence that ACE2 or TMPRSS2 drive population disparity in COVID risks. Publication Status: Online-Only, [RefSeq, PubMed]; Novel proteolytic activation of Ebolavirus glycoprotein GP by TMPRSS2 and cathepsin L at an uncharted position can compensate for furin cleavage., [RefSeq, PubMed]; Plasma membrane-anchored serine protease that cleaves at arginine residues (PubMed:32703818, PubMed:35676539, PubMed:37990007, PubMed:38964328). Participates in proteolytic cascades of relevance for the normal physiologic function of the prostate (PubMed:25122198). Androgen-induced TMPRSS2 activates several substrates that include pro-hepatocyte growth factor/HGF, the protease activated receptor-2/F2RL1 or matriptase/ST14 leading to extracellular matrix disruption and metastasis of prostate cancer cells (PubMed:15537383, PubMed:25122198, PubMed:26018085). In addition, activates trigeminal neurons and contribute to both spontaneous pain and mechanical allodynia (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Role of ACE2 and TMPRSS2 polymorphisms on COVID-19 outcome and disease severity in adult patients: A prospective cohort study in a tertiary hospital, Indonesia., [RefSeq, PubMed]; TMPRSS2 and glycan receptors synergistically facilitate coronavirus entry., [RefSeq, PubMed]; This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a type II transmembrane domain, a receptor class A domain, a scavenger receptor cysteine-rich domain and a protease domain. Serine proteases are known to be involved in many physiological and pathological processes. This gene was demonstrated to be up-regulated by androgenic hormones in prostate cancer cells and down-regulated in androgen-independent prostate cancer tissue. The protease domain of this protein is thought to be cleaved and secreted into cell media after autocleavage. This protein also facilitates entry of viruses into host cells by proteolytically cleaving and activating viral envelope glycoproteins. Viruses found to use this protein for cell entry include Influenza virus and the human coronaviruses HCoV-229E, MERS-CoV, SARS-CoV and SARS-CoV-2 (COVID-19 virus). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 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": 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": 1, "reported_phosphosites": 0, "reported_mutagensis": 39, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 10, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K6Z8;B2R8E5;B7Z459;D3DSJ2;F8WES1;Q6GTK7;Q9BXX1", "ec_number_list": [ { "id": "3.4.21.122", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.122", "type": "external" }, { "id": "3.4.21.75", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.75", "type": "external" }, { "id": "3.4.17.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.23", "type": "external" }, { "id": "3.4.17.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.-", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" } ], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006508 proteolysis;GO:0046598 positive regulation of viral entry into host cell;GO:0016540 protein autoprocessing;GO:0098670 entry receptor-mediated virion attachment to host cell", "synthesized_glycan_count": 0, "hit_score": 11.7, "record_id": "O15393-1", "record_type": "protein", "filter_code": "0001000.1100101.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6PF06-1", "uniprot_id": [ { "id": "TM10B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6PF06", "type": "external" } ], "mass": 36124.0, "length": 316, "protein_name": "tRNA methyltransferase 10 homolog B", "gene_name": "TRMT10B", "organism": "Human", "refseq_name": "tRNA methyltransferase 10 homolog B isoform b", "refseq_ac": [ { "id": "NP_001273879", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273879", "type": "external" } ], "gene_names_uniprotkb": "TRMT10B; RG9MTD3", "gene_names_refseq": "RG9MTD3; TRMT10B; bA3J10.9", "protein_names_uniprotkb": "tRNA methyltransferase 10 homolog B; 2.1.1.221; RNA (guanine-9-)-methyltransferase domain-containing protein 3; tRNA (guanine(9)-N(1))-methyltransferase TRMT10B", "protein_names_refseq": "RNA (guanine-9-) methyltransferase domain containing 3; RNA (guanine-9-)-methyltransferase domain-containing protein 3; tRNA (guanine(9)-N(1))-methyltransferase TRMT10B; tRNA methyltransferase 10 homolog B isoform b; tRNA methyltransferase 10 homolog B", "tax_id": 9606, "disease": "", "pathway": " (hsa:158234)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;23042678;25418920;26811146;28832583;29242379;30379171;31292261;32157095;32392304;34171305;34357683", "class_list": "", "function": "Demonstrate that human TRMT10A (hTRMT10A) and human TRMT10B (hTRMT10B) are not biochemically redundant, [RefSeq, PubMed]; Functional characterization of the human tRNA methyltransferases TRMT10A and TRMT10B., [RefSeq, PubMed]; S-adenosyl-L-methionine-dependent guanine N(1)-methyltransferase that catalyzes the formation of N(1)-methylguanine at position 9 (m1G9) in tRNAs (PubMed:23042678). Probably not able to catalyze formation of N(1)-methyladenine at position 9 (m1A9) in tRNAs (PubMed:23042678)., [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": 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": "B7Z216;B7Z3D3;Q05DJ4;Q5QP83;Q8NAG2;Q96N36", "ec_number_list": [ { "id": "2.1.1.221", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.221", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "2.1.1.218", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.218", "type": "external" } ], "go_molecular_function": "GO:0000049 tRNA binding;GO:0052905 tRNA (guanosine(9)-N1)-methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005743 mitochondrial inner membrane;GO:0005829 cytosol", "go_biological_process": "GO:0045039 protein insertion into mitochondrial inner membrane;GO:0002939 tRNA N1-guanine methylation", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q6PF06-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NCL8-1", "uniprot_id": [ { "id": "TM116_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NCL8", "type": "external" } ], "mass": 27464.0, "length": 245, "protein_name": "Transmembrane protein 116", "gene_name": "TMEM116", "organism": "Human", "refseq_name": "transmembrane protein 116 isoform 2", "refseq_ac": [ { "id": "NP_001180382", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180382", "type": "external" } ], "gene_names_uniprotkb": "TMEM116", "gene_names_refseq": "TMEM116", "protein_names_uniprotkb": "Transmembrane protein 116", "protein_names_refseq": "transmembrane protein 116 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:89894)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;23481700;28832583;31092671;32161166;32357974;32387766;32938616;33912179;34185709;34789718;37293153", "class_list": "", "function": "TMEM116 is required for lung cancer cell motility and metastasis through PDK1 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "G3V1W7;G5E985;Q6NSH5;Q8IZ66", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane;GO:0016020 membrane", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q8NCL8-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NDY8-1", "uniprot_id": [ { "id": "TMM52_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NDY8", "type": "external" } ], "mass": 22122.0, "length": 209, "protein_name": "Transmembrane protein 52", "gene_name": "TMEM52", "organism": "Human", "refseq_name": "transmembrane protein 52 precursor", "refseq_ac": [ { "id": "NP_848640", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_848640", "type": "external" } ], "gene_names_uniprotkb": "TMEM52; PRO9864", "gene_names_refseq": "TMEM52", "protein_names_uniprotkb": "Transmembrane protein 52", "protein_names_refseq": "transmembrane protein 52 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:339456)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;12975309;33968037;35494241", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q4VXS6;Q6UX25", "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": "Q8NDY8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P45378-1", "uniprot_id": [ { "id": "TNNT3_HUMAN", "url": "https://www.uniprot.org/uniprot/P45378", "type": "external" } ], "mass": 31825.0, "length": 269, "protein_name": "Troponin T, fast skeletal muscle", "gene_name": "TNNT3", "organism": "Human", "refseq_name": "troponin T, fast skeletal muscle isoform 3", "refseq_ac": [ { "id": "NP_001036245", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036245", "type": "external" } ], "gene_names_uniprotkb": "TNNT3", "gene_names_refseq": "DA2B2; TNNT3; TNTF; beta-TnTF", "protein_names_uniprotkb": "Troponin T, fast skeletal muscle; Beta-TnTF; Fast skeletal muscle troponin T; TnTf; fTnT", "protein_names_refseq": "troponin T type 3 (skeletal, fast); troponin T, fast skeletal muscle isoform 3; troponin T, fast skeletal muscle", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); intrinsic cardiomyopathy (Disease Ontology:DOID:0060036); distal arthrogryposis type 2B (Disease Ontology:DOID:0111599); distal arthrogryposis type 2B2 (Disease Ontology:DOID:0111601); nemaline myopathy (Disease Ontology:DOID:3191)", "pathway": " (hsa:7140); (R-HSA-390522)", "pathway_count": 2, "publication_count": 16, "publication_id_list": "10747208;11237011;12865991;19142688;21402185;23481700;25337069;26774798;26915936;29557506;29596868;29786170;31844290;34766372;8062920;8172653", "class_list": "", "function": "The TnT3 appears to contribute to age-related sarcopenia and possibly other age-related deficiencies such as muscle insulin resistance and beta cell dysfunction by interacting with TnT3-binding sequences in the promoter area of p53-related genes, among others, and consequently modulating the transcriptional regulation of these target genes., [RefSeq, PubMed]; The binding of Ca(2+) to the trimeric troponin complex initiates the process of muscle contraction. Increased Ca(2+) concentrations produce a conformational change in the troponin complex that is transmitted to tropomyosin dimers situated along actin filaments. The altered conformation permits increased interaction between a myosin head and an actin filament which, ultimately, produces a muscle contraction. The troponin complex has protein subunits C, I, and T. Subunit C binds Ca(2+) and subunit I binds to actin and inhibits actin-myosin interaction. Subunit T binds the troponin complex to the tropomyosin complex and is also required for Ca(2+)-mediated activation of actomyosin ATPase activity. There are 3 different troponin T genes that encode tissue-specific isoforms of subunit T for fast skeletal-, slow skeletal-, and cardiac-muscle. This gene encodes fast skeletal troponin T protein; also known as troponin T type 3. Alternative splicing results in multiple transcript variants encoding additional distinct troponin T type 3 isoforms. A developmentally regulated switch between fetal/neonatal and adult troponin T type 3 isoforms occurs. Additional splice variants have been described but their biological validity has not been established. Mutations in this gene may cause distal arthrogryposis multiplex congenita type 2B (DA2B). [provided by RefSeq, Oct 2009]., [RefSeq]; The distal arthrogryposis-linked p.R63C variant promotes the stability and nuclear accumulation of TNNT3., [RefSeq, PubMed]; The presence of the p.(Arg63His) missense mutation at position 63 of TNNT3 was confirmed through direct cycle sequencing of genomic DNA in six affected South African family members for whom DNA had been archived. Publication Status: Online-Only, [RefSeq, PubMed]; Three homologous genes have evolved in vertebrates to encode three muscle type-specific TnT isoforms: TNNT1 for slow skeletal muscle TnT, TNNT2 for cardiac muscle TnT, and TNNT3 for fast skeletal muscle TnT. Review article, [RefSeq, PubMed]; Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8MQ76;A8MSW1;B3KPX3;B7WP64;B7ZL26;B7ZVV9;Q12975;Q12976;Q12977;Q12978;Q17RG9;Q6FH29;Q6N056;Q86TH6", "ec_number_list": [], "go_molecular_function": "GO:0030172 troponin C binding;GO:0048306 calcium-dependent protein binding;GO:0005523 tropomyosin binding;GO:0031013 troponin I binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005861 troponin complex", "go_biological_process": "GO:0003009 skeletal muscle contraction;GO:0045214 sarcomere organization;GO:0006942 regulation of striated muscle contraction;GO:0043462 regulation of ATP-dependent activity;GO:1903612 positive regulation of calcium-dependent ATPase activity", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "P45378-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IWV7-1", "uniprot_id": [ { "id": "UBR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IWV7", "type": "external" } ], "mass": 200211.0, "length": 1749, "protein_name": "E3 ubiquitin-protein ligase UBR1", "gene_name": "UBR1", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase UBR1", "refseq_ac": [ { "id": "NP_777576", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_777576", "type": "external" } ], "gene_names_uniprotkb": "UBR1", "gene_names_refseq": "JBS; UBR1", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase UBR1; 2.3.2.27; N-recognin-1; Ubiquitin-protein ligase E3-alpha-1; Ubiquitin-protein ligase E3-alpha-I", "protein_names_refseq": "E3 ubiquitin-protein ligase UBR1; E3a ligase; N-recognin-1; RING-type E3 ubiquitin transferase UBR1; ubiquitin ligase E3 alpha-I; ubiquitin-protein ligase E3-alpha-1; ubiquitin-protein ligase E3-alpha-I; ubiquitin-protein ligase E3-alpha", "tax_id": 9606, "disease": "metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); cardiovascular system disease (Disease Ontology:DOID:1287); neurodegenerative disease (Disease Ontology:DOID:1289); Johanson-Blizzard syndrome (Disease Ontology:DOID:14694); atherosclerosis (Disease Ontology:DOID:1936)", "pathway": " (hsa:197131); (R-HSA-983168)", "pathway_count": 2, "publication_count": 119, "publication_id_list": "11062501;11237011;11350924;12434312;12646216;14734113;15224091;15224092;15317757;15548684;15571818;16311597;16595681;16849449;16954532;17525332;18162545;18662542;18691976;19028597;19352404;19369195;19452197;19489725;19690332;19851334;19874575;19940261;20068231;20298436;20835242;21931868;22072859;22424782;2261476;23186163;23481700;24275569;24599544;24714562;24715725;25418920;25576301;25645385;25892735;26149651;26154972;26375851;26992070;27600516;27846572;28218747;28228285;28392261;28510447;28514659;28657654;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29769354;29786170;30192525;30315122;30429286;30484775;30524438;30779550;30833945;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32265295;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33298915;33537174;33592498;33691108;33717175;33912179;33968037;34171305;34185709;34211107;34357683;34509645;34932366;35051231;35233680;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37057345;37938771;39181686;9380723;9653112;9668046", "class_list": "", "function": "E3 ubiquitin-protein ligase which is a component of the N-end rule pathway (PubMed:15548684, PubMed:16311597, PubMed:18162545, PubMed:20835242, PubMed:28392261). Recognizes and binds proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation (PubMed:18162545, PubMed:20835242, PubMed:28392261). Recognizes both type-1 and type-2 N-degrons, containing positively charged amino acids (Arg, Lys and His) and bulky and hydrophobic amino acids, respectively (PubMed:18162545). Does not ubiquitinate proteins that are acetylated at the N-terminus (PubMed:20835242). In contrast, it strongly binds methylated N-degrons (PubMed:28392261). Binds leucine and is a negative regulator of the leucine-mTOR signaling pathway, thereby controlling cell growth (PubMed:20298436)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Identification of Ubr1 as an amino acid sensor of steatosis in liver and muscle., [RefSeq, PubMed]; The N-end rule pathway is one proteolytic pathway of the ubiquitin system. The recognition component of this pathway, encoded by this gene, binds to a destabilizing N-terminal residue of a substrate protein and participates in the formation of a substrate-linked multiubiquitin chain. This leads to the eventual degradation of the substrate protein. The protein described in this record has a RING-type zinc finger and a UBR-type zinc finger. Mutations in this gene have been associated with Johanson-Blizzard syndrome. [provided by RefSeq, Jul 2008]., [RefSeq]; UBR1 is a prognostic biomarker and therapeutic target associated with immune cell infiltration in gastric cancer., [RefSeq, PubMed]; Ubiquitin ligase protein which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Ubr1-induced selective endophagy/autophagy protects against the endosomal and Ca(2+)-induced proteostasis disease stress. 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": 32, "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": "O60708;O75492;Q14D45;Q68DN9;Q8IWY6;Q96JY4", "ec_number_list": [ { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "2.3.2.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.34", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0070728 L-leucine binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000151 ubiquitin ligase complex;GO:0000502 proteasome complex", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination;GO:0032007 negative regulation of TOR signaling;GO:0071233 cellular response to L-leucine;GO:0071596 ubiquitin-dependent protein catabolic process via the N-end rule pathway", "synthesized_glycan_count": 0, "hit_score": 12.2, "record_id": "Q8IWV7-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H1E5-1", "uniprot_id": [ { "id": "TMX4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H1E5", "type": "external" } ], "mass": 38952.0, "length": 349, "protein_name": "Thioredoxin-related transmembrane protein 4", "gene_name": "TMX4", "organism": "Human", "refseq_name": "thioredoxin-related transmembrane protein 4 precursor", "refseq_ac": [ { "id": "NP_066979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066979", "type": "external" } ], "gene_names_uniprotkb": "TMX4; KIAA1162; PRO938; PSEC0095; TXNDC13", "gene_names_refseq": "DJ971N18.2; PDIA14; TMX4; TXNDC13", "protein_names_uniprotkb": "Thioredoxin-related transmembrane protein 4; Thioredoxin domain-containing protein 13", "protein_names_refseq": "protein disulfide isomerase family A, member 14; thioredoxin domain containing 13; thioredoxin domain-containing protein 13; thioredoxin-related transmembrane protein 4 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:56255)", "pathway_count": 1, "publication_count": 46, "publication_id_list": "11237011;12975309;16303743;17081983;19651622;19811453;20056998;20068231;22045338;23481700;26992070;27452731;27862975;28218747;28228285;28832583;28855257;28904123;29242379;29493099;29557506;29741879;30410026;30429286;31154438;31844290;31848261;32157095;32350084;32488085;32502341;32938616;33592498;33936100;33968037;34019948;34171305;34561969;35051231;35251023;35254053;35580925;36010968;37074911;40596516;40914422", "class_list": "", "function": "Data identify a novel transmembrane Trx-like protein 4 (TMX4), in the ER of mammalian cells, and confirm that the Trx-like domain has reductase activity in vitro., [RefSeq, PubMed]; Data show that features not commonly found in other PDIs characterize TMX4 and suggest unique functional properties of the protein. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and C-terminal ASP/GLU-rich calcium binding domain. Unlike most members of this gene family, it lacks a C-terminal ER-retention sequence. The encoded protein has been shown to have reductase activity in vitro. [provided by RefSeq, Jan 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q8N4P7;Q8NCC1;Q9UJA1;Q9ULQ8", "ec_number_list": [], "go_molecular_function": "GO:0015036 disulfide oxidoreductase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:0012505 endomembrane system;GO:0005637 nuclear inner membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q9H1E5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15326-1", "uniprot_id": [ { "id": "ZMY11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15326", "type": "external" } ], "mass": 70963.0, "length": 602, "protein_name": "Zinc finger MYND domain-containing protein 11", "gene_name": "ZMYND11", "organism": "Human", "refseq_name": "zinc finger MYND domain-containing protein 11 isoform c", "refseq_ac": [ { "id": "NP_001189393", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189393", "type": "external" } ], "gene_names_uniprotkb": "ZMYND11; BRAM1; BS69", "gene_names_refseq": "BRAM1; BS69; MRD30; ZMYND11", "protein_names_uniprotkb": "Zinc finger MYND domain-containing protein 11; Adenovirus 5 E1A-binding protein; Bone morphogenetic protein receptor-associated molecule 1; Protein BS69", "protein_names_refseq": "adenovirus 5 E1A-binding protein; bone morphogenetic protein receptor-associated molecule 1; zinc finger MYND domain-containing protein 11 isoform c; zinc finger MYND domain-containing protein 11", "tax_id": 9606, "disease": "autosomal dominant intellectual developmental disorder 30 (Disease Ontology:DOID:0070060); stomach cancer (Disease Ontology:DOID:10534)", "pathway": " (hsa:10771)", "pathway_count": 1, "publication_count": 70, "publication_id_list": "10734313;11237011;11733528;12181323;15947784;16382137;16565076;17525332;18669648;19379743;19691289;19766626;20068231;20138174;23186163;23372760;23915195;24590075;24675531;24714562;24715725;25217958;25218447;25593309;25772364;25880248;26154972;26655721;26845565;26992070;27846572;28832583;29242379;29437277;29493099;29557506;30315122;30379171;30410026;31844290;32157095;32357974;32502341;32512976;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33594072;33717175;33981976;34087483;34171305;34185709;34216016;34561969;34932366;35051231;35318648;35580925;35705031;36010968;36241641;36284347;37938771;7621829", "class_list": "", "function": "(Microbial infection) Inhibits Epstein-Barr virus EBNA2-mediated transcriptional activation and host cell proliferation, through direct interaction., [UniProtKB, PubMed]; Chromatin reader that specifically recognizes and binds histone H3.3 trimethylated at 'Lys-36' (H3.3K36me3) and regulates RNA polymerase II elongation. Does not bind other histone H3 subtypes (H3.1 or H3.2) (By similarity). Colocalizes with highly expressed genes and functions as a transcription corepressor by modulating RNA polymerase II at the elongation stage. Binds non-specifically to dsDNA (PubMed:24675531). Acts as a tumor-suppressor by repressing a transcriptional program essential for tumor cell growth., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; MicroRNA-196b promotes cell growth and metastasis of ovarian cancer by targeting ZMYND11., [RefSeq, PubMed]; Oncogenic ZMYND11-MBTD1 fusion protein anchors the NuA4/TIP60 histone acetyltransferase complex to the coding region of active genes., [RefSeq, PubMed]; The C-terminal Mynd domain of BS69 (amino acids 516-561) or Mynd domains of the Caenorhabditis elegans proteins Bra-1 and Bra-2 bind not only to E1A but also to the Epstein-Barr virus EBNA2 oncoprotein and the Myc-related cellular protein MGA, [RefSeq, PubMed]; The adenovirus E1A binding protein BS69 is a corepressor of transcription through recruitment of N-CoR., [RefSeq, PubMed]; The protein encoded by this gene was first identified by its ability to bind the adenovirus E1A protein. The protein localizes to the nucleus. It functions as a transcriptional repressor, and expression of E1A inhibits this repression. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]; ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder., [RefSeq, PubMed]; ZMYND11-MBTD1 induces leukemogenesis through hijacking NuA4/TIP60 acetyltransferase complex and a PWWP-mediated chromatin association mechanism. 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": 17, "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": "B2R6G8;B7Z293;F6UH50;Q2LD45;Q2LD46;Q2LD47;Q2LD48;Q5VUI1;Q8N4B3", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0003714 transcription corepressor activity;GO:0003690 double-stranded DNA binding;GO:0140003 histone H3K36me3 reader activity;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005694 chromosome", "go_biological_process": "GO:0034243 regulation of transcription elongation by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0051607 defense response to virus;GO:0045892 negative regulation of DNA-templated transcription;GO:0043124 negative regulation of canonical NF-kappaB signal transduction", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q15326-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5BJD5-1", "uniprot_id": [ { "id": "TM41B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5BJD5", "type": "external" } ], "mass": 32513.0, "length": 291, "protein_name": "Transmembrane protein 41B", "gene_name": "TMEM41B", "organism": "Human", "refseq_name": "transmembrane protein 41B isoform 2", "refseq_ac": [ { "id": "NP_001158502", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158502", "type": "external" } ], "gene_names_uniprotkb": "TMEM41B; KIAA0033", "gene_names_refseq": "TMEM41B", "protein_names_uniprotkb": "Transmembrane protein 41B; Protein stasimon", "protein_names_refseq": "protein stasimon; stasimon; transmembrane protein 41B isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:440026)", "pathway_count": 1, "publication_count": 81, "publication_id_list": "11237011;17074750;18446792;18691976;19651622;20068231;22869377;23186163;23481700;23555621;24715725;25576301;25645385;25892735;26154972;26375851;26992070;27600516;27846572;27862975;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29508533;29557506;29632711;29786170;30093494;30126924;30315122;30352685;30429286;30484775;30524438;30779550;30833945;30933966;31154438;31217245;31844290;31848261;31998317;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33338421;33382968;33392160;33592498;33717175;33850023;33912179;33929485;33936100;33968037;34015269;34043740;34171305;34211107;34509645;34932366;35051231;35251023;35318648;35494241;35536318;35580925;36010968;36241641;36284347;37938771", "class_list": "", "function": "(Microbial infection) Critical host factor required for infection by human coronaviruses SARS-CoV-2, HCoV-OC43, HCoV-NL63, and HCoV-229E, as well as all flaviviruses tested such as Zika virus and Yellow fever virus (PubMed:33338421, PubMed:33382968). Required post-entry of the virus to facilitate the ER membrane remodeling necessary to form replication organelles (PubMed:33382968)., [UniProtKB, PubMed, PubMed, PubMed]; Phospholipid scramblase involved in lipid homeostasis and membrane dynamics processes (PubMed:33850023, PubMed:33929485, PubMed:34015269). Has phospholipid scramblase activity toward cholesterol and phosphatidylserine, as well as phosphatidylethanolamine and phosphatidylcholine (PubMed:33850023, PubMed:33929485, PubMed:34015269). Required for autophagosome formation: participates in early stages of autophagosome biogenesis at the endoplasmic reticulum (ER) membrane by reequilibrating the leaflets of the ER as lipids are extracted by ATG2 (ATG2A or ATG2B) to mediate autophagosome assembly (PubMed:30093494, PubMed:30126924, PubMed:30933966, PubMed:33850023, PubMed:33929485, PubMed:34015269, PubMed:34043740). In addition to autophagy, involved in other processes in which phospholipid scramblase activity is required (PubMed:33850023). Required for normal motor neuron development (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; TMEM41B is a host factor required for the replication of diverse coronaviruses including SARS-CoV-2. Publication Status: Online-Only, [RefSeq, PubMed]; TMEM41B is a novel ER-localized regulator of autophagosome biogenesis and lipid mobilization., [RefSeq, PubMed]; TMEM41B is an integral endoplasmic reticulum (ER) membrane protein distantly related to the established autophagy factor vacuole membrane protein 1 (VMP1), and the data show that these two factors play related, albeit not fully overlapping, roles in autophagosome biogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; These results suggest that TMEM41B and VMP1 function together at an early step of autophagosome formation., [RefSeq, PubMed]; VMP1 and TMEM41B are essential for DMV formation during beta-coronavirus infection., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "D3DQU9;E9PP29;Q15055;Q4G0P0", "ec_number_list": [ { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "1.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.5", "type": "external" } ], "go_molecular_function": "GO:0017128 phospholipid scramblase activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane;GO:0044233 mitochondria-associated endoplasmic reticulum membrane contact site;GO:0016020 membrane", "go_biological_process": "GO:0000045 autophagosome assembly;GO:0007399 nervous system development;GO:0044830 host-mediated perturbation of viral RNA genome replication;GO:0032365 intracellular lipid transport", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "Q5BJD5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TGY1-1", "uniprot_id": [ { "id": "TMCO4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TGY1", "type": "external" } ], "mass": 67910.0, "length": 634, "protein_name": "Transmembrane and coiled-coil domain-containing protein 4", "gene_name": "TMCO4", "organism": "Human", "refseq_name": "transmembrane and coiled-coil domain-containing protein 4 isoform 1", "refseq_ac": [ { "id": "NP_859070", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_859070", "type": "external" } ], "gene_names_uniprotkb": "TMCO4", "gene_names_refseq": "TMCO4", "protein_names_uniprotkb": "Transmembrane and coiled-coil domain-containing protein 4", "protein_names_refseq": "transmembrane and coiled-coil domain-containing protein 4 isoform 1; transmembrane and coiled-coil domain-containing protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:255104)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "11237011;25576301;26992070;27862975;28904123;29557506;30429286;30484775;31217245;31844290;32157095;32265295;32350084;32357974;32488085;32502341;32938616;33592498;33912179;33968037;34357683;35051231;35580925;36010968;36215666;36241641;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": 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": "Q5TGY2;Q6MZN5;Q7Z6K6;Q9UQP4;Q9Y3K1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q5TGY1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94876-1", "uniprot_id": [ { "id": "TMCC1_HUMAN", "url": "https://www.uniprot.org/uniprot/O94876", "type": "external" } ], "mass": 72083.0, "length": 653, "protein_name": "Transmembrane and coiled-coil domains protein 1", "gene_name": "TMCC1", "organism": "Human", "refseq_name": "transmembrane and coiled-coil domains protein 1 isoform c", "refseq_ac": [ { "id": "NP_001121696", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121696", "type": "external" } ], "gene_names_uniprotkb": "TMCC1; KIAA0779", "gene_names_refseq": "TMCC1", "protein_names_uniprotkb": "Transmembrane and coiled-coil domains protein 1", "protein_names_refseq": "transmembrane and coiled-coil domains protein 1 isoform c", "tax_id": 9606, "disease": "alcohol-related neurodevelopmental disorder (Disease Ontology:DOID:0050667)", "pathway": " (hsa:23023)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "11237011;17081983;18578522;18691976;18767875;19651622;19664994;19690332;20058876;21406692;23186163;24275569;24454821;26758079;29393594;30220460;31092671;31844290;32161166;32938616;33981976;34171305;35051231;36284347", "class_list": "", "function": "Endoplasmic reticulum membrane protein that promotes endoplasmic reticulum-associated endosome fission (PubMed:30220460). Localizes to contact sites between the endoplasmic reticulum and endosomes and acts by promoting recruitment of the endoplasmic reticulum to endosome tubules for fission (PubMed:30220460). Endosome membrane fission of early and late endosomes is essential to separate regions destined for lysosomal degradation from carriers to be recycled to the plasma membrane (PubMed:30220460)., [UniProtKB, PubMed]; Roles of TMCC1 in ER organization Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K5Y3;B4DE04;Q68E06;Q8IXM8", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005791 rough endoplasmic reticulum;GO:0005829 cytosol;GO:0005789 endoplasmic reticulum membrane;GO:0012505 endomembrane system;GO:0140284 endoplasmic reticulum-endosome membrane contact site", "go_biological_process": "GO:0016197 endosomal transport;GO:0007029 endoplasmic reticulum organization;GO:0090148 membrane fission;GO:0097750 endosome membrane tubulation;GO:0140285 endosome fission", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "O94876-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60507-1", "uniprot_id": [ { "id": "TPST1_HUMAN", "url": "https://www.uniprot.org/uniprot/O60507", "type": "external" } ], "mass": 42188.0, "length": 370, "protein_name": "Protein-tyrosine sulfotransferase 1", "gene_name": "TPST1", "organism": "Human", "refseq_name": "protein-tyrosine sulfotransferase 1", "refseq_ac": [ { "id": "NP_003587", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003587", "type": "external" } ], "gene_names_uniprotkb": "TPST1", "gene_names_refseq": "TANGO13A; TPST1", "protein_names_uniprotkb": "Protein-tyrosine sulfotransferase 1; 2.8.2.20; TPST-1; Tyrosylprotein sulfotransferase 1", "protein_names_refseq": "TPST-1; protein-tyrosine sulfotransferase 1; transport and golgi organization 13 homolog A", "tax_id": 9606, "disease": "colorectal adenocarcinoma (Disease Ontology:DOID:0050861)", "pathway": " (hsa:8460); (R-HSA-156584); (R-HSA-163841); (R-HSA-9674519)", "pathway_count": 4, "publication_count": 75, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10199779;10224133;10503886;10512730;11016445;11077054;11154739;11237011;11457664;11739018;12032733;12039030;12056800;12145317;12372849;12889478;14622112;14633848;14672934;15102834;15137908;15358107;1554716;16859706;18606703;18672380;1898735;19158273;19343046;19413330;22195972;2268288;23472069;23479625;23481380;23481700;23584533;24971579;25059662;25079514;25660941;25813380;26238632;28821720;29632046;31844290;32157095;32265295;32350084;32938616;33298915;33592498;33912179;34357683;35051231;35251023;36215666;37074911;37217939;38665916;6139755;6770210;7678732;7779757;8051097;8185618;8697101;9034160;9463486;9501187;9566739;9733778;9852044", "class_list": "glycogene", "function": "Catalyzes the O-sulfation of tyrosine residues within acidic motifs of polypeptides, using 3'-phosphoadenylyl sulfate (PAPS) as cosubstrate., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Results exclude TPST1 as the causative gene for Shwachman-Diamond syndrome, [RefSeq, PubMed]; Shear stress-dependent downregulation of TPST1 in human endothelium involves protein kinase C Erratum:[Biochem Biophys Res Commun 2002 Jul 26;295(4):1033], [RefSeq, PubMed]; TPST1 rs3757417T>G polymorphisms are associated with colorectal cancer., [RefSeq, PubMed]; TPST1 was significantly negatively correlated with the expression of cMet in lung cancer and may be a negative prognostic biomarker of lung cancer., [RefSeq, PubMed]; Up-regulation of TPST-1 and tyrosine sulfation of CXCR4 by LMP1 might be a potential mechanism contributing to nasopharyngeal carcinoma metastasis, [RefSeq, PubMed]", "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": 1, "reported_o_glycosites_with_glycan": 15, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 15, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 15, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 396, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 1, "glyco_site_count": 16, "binding_glycan_count": 0, "secondary_ac_list": "A4D2M0;Q6FGM7", "ec_number_list": [ { "id": "2.8.2.20", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.20", "type": "external" } ], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0008476 protein-tyrosine sulfotransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005796 Golgi lumen;GO:0016020 membrane;GO:0005802 trans-Golgi network", "go_biological_process": "GO:0043687 post-translational protein modification;GO:0050427 3'-phosphoadenosine 5'-phosphosulfate metabolic process;GO:0006478 peptidyl-tyrosine sulfation", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "O60507-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100100000001.110.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12974-1", "uniprot_id": [ { "id": "TP4A2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12974", "type": "external" } ], "mass": 19127.0, "length": 167, "protein_name": "Protein tyrosine phosphatase type IVA 2", "gene_name": "PTP4A2", "organism": "Human", "refseq_name": "protein tyrosine phosphatase type IVA 2 isoform 3", "refseq_ac": [ { "id": "NP_001182029", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182029", "type": "external" } ], "gene_names_uniprotkb": "PTP4A2; BM-008; PRL2; PTPCAAX2", "gene_names_refseq": "HH13; HH7-2; HU-PP-1; OV-1; PRL-2; PRL2; PTP4A2; PTP4A; PTPCAAX2; ptp-IV1a; ptp-IV1b", "protein_names_uniprotkb": "Protein tyrosine phosphatase type IVA 2; 3.1.3.48; HU-PP-1; OV-1; PRL-2; PTP(CAAXII); Protein-tyrosine phosphatase 4a2; Protein-tyrosine phosphatase of regenerating liver 2", "protein_names_refseq": "PTP(CAAXII); phosphatase of regenerating liver 2; protein tyrosine phosphatase IVA2; protein tyrosine phosphatase IVA; protein tyrosine phosphatase type IVA 2 isoform 3; protein tyrosine phosphatase type IVA 2; protein tyrosine phosphatase type IVA, member 2; protein-tyrosine phosphatase of regenerating liver 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:8073); (R-HSA-8873719)", "pathway_count": 2, "publication_count": 63, "publication_id_list": "10940933;11141079;11237011;11389151;11447212;11675392;11734337;12235145;12516958;14643450;16401880;1648736;17114793;17411337;18532927;19603039;22694141;24023390;25341920;26969162;27846572;27920218;28063628;28228285;28514659;28832583;28834231;28904123;29242379;29314611;29393594;29632046;29769354;30429286;30524438;31092671;31844290;32350084;32387766;32733084;32788364;33298915;33691108;33717175;33968037;34357683;35051231;35251023;36581221;36972446;7490091;7957092;7991565;8164745;8349690;8375503;8513495;8529999;8631982;8661118;8662963;8836150;9018080", "class_list": "", "function": "A FRET-based screening method to detect potential inhibitors of the binding of CNNM3 to PRL2. Publication Status: Online-Only, [RefSeq, PubMed]; Mechanism of PRL2 phosphatase-mediated PTEN degradation and tumorigenesis., [RefSeq, PubMed]; Protein tyrosine phosphatase which stimulates progression from G1 into S phase during mitosis. Promotes tumors. Inhibits geranylgeranyl transferase type II activity by blocking the association between RABGGTA and RABGGTB., [UniProtKB, PubMed]; The protein encoded by this gene belongs to a small class of the protein tyrosine phosphatase (PTP) family. PTPs are cell signaling molecules that play regulatory roles in a variety of cellular processes. PTPs in this class contain a protein tyrosine phosphatase catalytic domain and a characteristic C-terminal prenylation motif. This PTP has been shown to primarily associate with plasmic and endosomal membrane through its C-terminal prenylation. This PTP was found to interact with the beta-subunit of Rab geranylgeranyltransferase II (beta GGT II), and thus may function as a regulator of GGT II activity. Overexpression of this gene in mammalian cells conferred a transformed phenotype, which suggested its role in tumorigenesis. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 11, 12 and 17. [provided by RefSeq, Aug 2010]., [RefSeq]; This study established the existence of a magnesium transporter protein complex (PTP4A2/CNNM3/TRPM7) governing the cellular uptake of this divalent cation. Moreover, PTP4A2 acts as a magnesium biosensor, controlling the activity of this complex to reprogram cellular metabolism., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K9I8;B4DM39;D3DPP0;E9PGJ6;O00649;Q15197;Q15259;Q15260;Q15261;R4GN50", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.21", "type": "external" }, { "id": "3.1.3.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.18", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.5", "type": "external" }, { "id": "3.1.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.5.1.60", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.60", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" } ], "go_molecular_function": "GO:0004857 enzyme inhibitor activity;GO:0004725 protein tyrosine phosphatase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q12974-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZNB5-1", "uniprot_id": [ { "id": "XNDC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZNB5", "type": "external" } ], "mass": 25996.0, "length": 234, "protein_name": "Protein XNDC1N", "gene_name": "LOC100133315; XNDC1N-ZNF705EP-ALG1L9P; XNDC1N", "organism": "Human", "refseq_name": "protein XNDC1N isoform 1", "refseq_ac": [ { "id": "NP_001362776", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001362776", "type": "external" } ], "gene_names_uniprotkb": "LOC100133315; XNDC1N-ZNF705EP-ALG1L9P; XNDC1N; XNDC1N-ZNF705EP-ALG1L9P", "gene_names_refseq": "XNDC1N", "protein_names_uniprotkb": "Protein XNDC1N; XRCC1 N-terminal domain-containing 1 N-terminal like", "protein_names_refseq": "XRCC1 N-terminal domain containing 1-like protein; protein XNDC1N isoform 1; protein XNDC1N; putative short transient receptor potential channel 2-like protein; trpC2-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:100133315)", "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:0003684 damaged DNA binding", "go_cellular_component": "GO:0005730 nucleolus;GO:0005634 nucleus", "go_biological_process": "GO:0000012 single strand break repair", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q6ZNB5-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P36941-1", "uniprot_id": [ { "id": "TNR3_HUMAN", "url": "https://www.uniprot.org/uniprot/P36941", "type": "external" } ], "mass": 46709.0, "length": 435, "protein_name": "Tumor necrosis factor receptor superfamily member 3", "gene_name": "LTBR", "organism": "Human", "refseq_name": "tumor necrosis factor receptor superfamily member 3 isoform 2", "refseq_ac": [ { "id": "NP_001257916", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257916", "type": "external" } ], "gene_names_uniprotkb": "LTBR; D12S370; TNFCR; TNFR3; TNFRSF3", "gene_names_refseq": "D12S370; LT-BETA-R; LTBR; TNF-R-III; TNFCR; TNFR-RP; TNFR2-RP; TNFR3; TNFRSF3", "protein_names_uniprotkb": "Tumor necrosis factor receptor superfamily member 3; Lymphotoxin-beta receptor; TNF-RIII; TNFR-III; Tumor necrosis factor C receptor; Tumor necrosis factor receptor 2-related protein; Tumor necrosis factor receptor type III", "protein_names_refseq": "lymphotoxin B receptor; lymphotoxin beta receptor (TNFR superfamily, member 3); tumor necrosis factor C receptor; tumor necrosis factor receptor 2-related protein; tumor necrosis factor receptor superfamily member 3 isoform 2; tumor necrosis factor receptor type III", "tax_id": 9606, "disease": "psoriasis (Disease Ontology:DOID:8893)", "pathway": " (hsa:4055); (R-HSA-5668541); (R-HSA-5676594)", "pathway_count": 3, "publication_count": 87, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10085077;10207006;10359578;10797013;10799510;11237011;11728344;11853672;12374738;12529173;12571250;12721620;12787562;15084608;15368291;15585864;15644327;15824857;17636564;18635759;18691976;18997792;18997794;19241374;19426221;19815541;20068231;20385556;20483727;21081755;21091114;23090970;23584533;23667509;24190977;24248355;24298274;24432023;25152365;25576301;25645385;25813380;29507355;29557506;29632711;31154438;31540894;31844290;32157095;32350084;32357974;32488085;32938616;32983136;33392160;33537174;34078123;34185709;35051231;35251023;35580925;35987137;36010968;36215666;37074911;38175686;38248473;38599071;39894887;7544915;7639698;8171323;8486360;8521496;8663299;8702708;8995654;9122217;9247583;9367155;9511754;9626059;9718306;9852070", "class_list": "", "function": "A LIGHT-HVEM/LTbetaR axis contributes to the fibrosis of intrauterine adhesion., [RefSeq, PubMed]; Comprehensive analysis reveals that LTBR is a immune-related biomarker for glioma., [RefSeq, PubMed]; Receptor for the heterotrimeric lymphotoxin containing LTA and LTB, and for TNFS14/LIGHT (PubMed:24248355). Activates NF-kappa-B signaling pathway upon stimulation with lymphotoxin (LTA(1)-LTB(2)) (PubMed:24248355). Promotes apoptosis via TRAF3 and TRAF5. May play a role in the development of lymphoid organs., [UniProtKB, PubMed, PubMed, PubMed]; Systematic analysis of the prognostic value and immunological function of LTBR in human cancer., [RefSeq, PubMed]; This gene encodes a member of the tumor necrosis factor receptor superfamily. The major ligands of this receptor include lymphotoxin alpha/beta and tumor necrosis factor ligand superfamily member 14. The encoded protein plays a role in signalling during the development of lymphoid and other organs, lipid metabolism, immune response, and programmed cell death. Activity of this receptor has also been linked to carcinogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 3, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 1, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B7Z1D2;D3DUR2;F5GXE7", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005886 plasma membrane", "go_biological_process": "GO:0036145 dendritic cell homeostasis;GO:0006955 immune response;GO:0007165 signal transduction;GO:0046330 positive regulation of JNK cascade;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "P36941-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6NUM6-1", "uniprot_id": [ { "id": "TYW1B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6NUM6", "type": "external" } ], "mass": 76946.0, "length": 668, "protein_name": "S-adenosyl-L-methionine-dependent tRNA 4-demethylwyosine synthase TYW1B", "gene_name": "TYW1B", "organism": "Human", "refseq_name": "S-adenosyl-L-methionine-dependent tRNA 4-demethylwyosine synthase TYW1B isoform 1", "refseq_ac": [ { "id": "NP_001138912", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138912", "type": "external" } ], "gene_names_uniprotkb": "TYW1B; RSAFD2", "gene_names_refseq": "LINC00069; NCRNA00069; RSAFD2; TYW1B", "protein_names_uniprotkb": "S-adenosyl-L-methionine-dependent tRNA 4-demethylwyosine synthase TYW1B; 4.1.3.44; Radical S-adenosyl methionine and flavodoxin domain-containing protein 2; tRNA wybutosine-synthesizing protein 1 homolog B", "protein_names_refseq": "S-adenosyl-L-methionine-dependent tRNA 4-demethylwyosine synthase TYW1B isoform 1; S-adenosyl-L-methionine-dependent tRNA 4-demethylwyosine synthase TYW1B; long intergenic non-protein coding RNA 69; radical S-adenosyl methionine and flavodoxin domain-containing protein 2; radical S-adenosyl methionine and flavodoxin domains 1; tRNA wybutosine-synthesizing protein 1 homolog B; tRNA-yW synthesizing protein 1 homolog B (non-protein coding)", "tax_id": 9606, "disease": "", "pathway": " (hsa:441250)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "11237011;25418920;25645385;26375851;26929215;28218747;28228285;28832583;28834231;29242379;29393594;29508533;29557506;29632046;29632711;30410026;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;33091337;33298915;33392160;33537174;33592498;33717175;33912179;33968037;35251023;35318648;35580925;36241641;36284347", "class_list": "", "function": "Involved in the biosynthesis of wybutosine, a hyper modified guanosine with a tricyclic base located at position 37 of eukaryotic phenylalanine tRNA (tRNA(Phe)) that contributes to maintenance of the translational reading frame (By similarity). Catalyzes the condensation of N-methylguanine with 2 carbon atoms from pyruvate to form the tricyclic 4-demethylwyosine, an intermediate in wybutosine biosynthesis (By similarity)., [UniProtKB, UniProtKB]; Wybutosine is a hypermodified guanosine found in phenylalanine tRNA. Wybutosine functions to stabilize codon-anticodon interactions during ribosome decoding and therefore supports the maintenance of the reading frame. In yeast, the homolog of this gene is essential for the synthesis of wybutosine. The human genome contains two closely related genes that putatively function in wybutosine synthesis. The open reading frame of this locus is disrupted in some individuals. Thus, this locus appears to be an evolving pseudogene, but may still be functional in some members of the population. [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": 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": "A0A087WZB2;A6NG09;B4DFY2;Q3KQX2", "ec_number_list": [ { "id": "4.1.3.44", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.3.44", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0051539 4 iron, 4 sulfur cluster binding;GO:0010181 FMN binding;GO:0102521 tRNA-4-demethylwyosine synthase activity;GO:0003824 catalytic activity", "go_cellular_component": "", "go_biological_process": "GO:0031591 wybutosine biosynthetic process;GO:0008033 tRNA processing", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q6NUM6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NI27-1", "uniprot_id": [ { "id": "THOC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NI27", "type": "external" } ], "mass": 182775.0, "length": 1593, "protein_name": "THO complex subunit 2", "gene_name": "THOC2", "organism": "Human", "refseq_name": "THO complex subunit 2 isoform 1", "refseq_ac": [ { "id": "NP_001075019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075019", "type": "external" } ], "gene_names_uniprotkb": "THOC2; CXorf3", "gene_names_refseq": "AMC7; CXorf3; MRX12; MRX35; THO2; THOC2; XLID12; dJ506G2.1; hTREX120", "protein_names_uniprotkb": "THO complex subunit 2; Tho2; hTREX120", "protein_names_refseq": "THO complex 2; THO complex subunit 2 isoform 1", "tax_id": 9606, "disease": "X-linked intellectual disability-short stature-overweight syndrome (Disease Ontology:DOID:0112056); arthrogryposis multiplex congenita 7, X-linked (MONDO:MONDO:0975826)", "pathway": " (hsa:57187); (R-HSA-159236); (R-HSA-72187)", "pathway_count": 3, "publication_count": 156, "publication_id_list": "10228171;10323864;10489353;10668806;11073998;11237011;11256625;11259411;11259602;11579093;11739738;11756420;11979277;12093754;12871933;15833825;15870275;15998806;16314397;16964243;17000901;17081983;17190602;17322306;17697703;17924679;17984224;18364396;18411249;18423201;18452278;18669648;18691976;18767875;18957205;18974867;19413330;19651622;19664994;19836239;20068230;20068231;20129943;20573985;20844015;21406692;21947206;22207203;22424782;22645359;22893130;22898188;22928037;23186163;23222130;23299939;23481700;23826332;24244187;24275569;24714562;24715725;25418920;25505266;25576301;25645385;25662211;25836925;25892735;26024233;26154972;26166480;26992070;27600516;27846572;27920218;28218747;28228285;28510447;28514659;28649982;28832583;28834231;28860189;28904123;29242379;29351928;29393594;29437277;29493099;29557506;29632046;29632711;29769354;29786170;29851191;30315122;30379171;30410026;30484775;30524438;31154438;31217245;31680623;31844290;32116545;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33191911;33214551;33298915;33392160;33465208;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34405274;34509645;34561969;34932366;34976470;35051231;35154160;35251023;35561310;35580925;36010968;36215666;36241641;36284347;37020021;37217939;37938771;37945483;40596516;9618489;9660949", "class_list": "", "function": "(Microbial infection) The TREX complex is essential for the export of Kaposi's sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production., [UniProtKB, PubMed]; Component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA (PubMed:15833825, PubMed:15998806, PubMed:17190602). Required for efficient export of polyadenylated RNA and spliced mRNA (PubMed:23222130). The THOC1-THOC2-THOC3 core complex alone is sufficient to bind export factor NXF1-NXT1 and promote ATPase activity of DDX39B; in the complex THOC2 is the only component that directly interacts with DDX39B (PubMed:33191911). TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NXF1 pathway (PubMed:15833825, PubMed:15998806, PubMed:17190602). Required for NXF1 localization to the nuclear rim (PubMed:22893130). THOC2 (and probably the THO complex) is involved in releasing mRNA from nuclear speckle domains., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Study presents detailed clinical assessment and functional studies on a de novo variant in a female with an epileptic encephalopathy and discuss an additional four families with rare variants in THOC2 with supportive evidence for pathogenicity., [RefSeq, PubMed]; THOC2 mutations implicate mRNA-export pathway in X-linked intellectual disability., [RefSeq, PubMed]; THOC2 reduction repressed melanoma cell proliferation and invasion, and induced cell apoptosis., [RefSeq, PubMed]; The TREX multiprotein complex binds specifically to spliced mRNAs to facilitate mRNA export. The protein encoded by this gene is a member of the THO complex, a subset of the TREX complex. The encoded protein interacts with the THOC1 protein.[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": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 22, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A6NM50;Q5JZ12;Q6IN92;Q9H8I6", "ec_number_list": [], "go_molecular_function": "GO:0003729 mRNA binding", "go_cellular_component": "GO:0000347 THO complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016607 nuclear speck", "go_biological_process": "GO:0016973 poly(A)+ mRNA export from nucleus;GO:0006397 mRNA processing;GO:0006406 mRNA export from nucleus;GO:0010977 negative regulation of neuron projection development;GO:0008380 RNA splicing", "synthesized_glycan_count": 0, "hit_score": 16.5, "record_id": "Q8NI27-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NVV0-1", "uniprot_id": [ { "id": "TM38B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NVV0", "type": "external" } ], "mass": 32510.0, "length": 291, "protein_name": "Trimeric intracellular cation channel type B", "gene_name": "TMEM38B", "organism": "Human", "refseq_name": "trimeric intracellular cation channel type B", "refseq_ac": [ { "id": "NP_060582", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060582", "type": "external" } ], "gene_names_uniprotkb": "TMEM38B; C9orf87; TRICB", "gene_names_refseq": "C9orf87; D4Ertd89e; OI14; TMEM38B; TRIC-B; TRICB; bA219P18.1", "protein_names_uniprotkb": "Trimeric intracellular cation channel type B; TRIC-B; TRICB; Transmembrane protein 38B", "protein_names_refseq": "trimeric intracellular cation channel type B", "tax_id": 9606, "disease": "osteogenesis imperfecta type 14 (Disease Ontology:DOID:0110343)", "pathway": " (hsa:55151)", "pathway_count": 1, "publication_count": 51, "publication_id_list": "11237011;18669648;18691976;18978678;19007248;20068231;20800603;23054245;23316006;24715725;25576301;25892735;26758079;26911354;26992070;27441836;27893789;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29632046;29769354;30315122;30410026;31154438;31217245;31844290;32157095;32161166;32265295;32350084;32357974;32387766;32983136;33298915;33392160;33717175;33912179;33968037;34171305;34357683;35051231;35251023;35580925;37348683;38556553", "class_list": "", "function": "Absence of TMEM38B causes osteogenesis imperfecta by dysregulation of calcium flux kinetics in the endoplasmic reticulum, impacting multiple collagen-specific chaperones and modifying enzymes. Publication Status: Online-Only, [RefSeq, PubMed]; Absence of TRIC-B from type XIV Osteogenesis Imperfecta osteoblasts alters cell adhesion and mitochondrial function - A multi-omics study., [RefSeq, PubMed]; Intracellular monovalent cation channel required for maintenance of rapid intracellular calcium release. Acts as a potassium counter-ion channel that functions in synchronization with calcium release from intracellular stores. Activated by increased cytosolic Ca(2+) levels., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; TMEM38B mutations could lead to a rare form of OI, with an autosomal recessive pattern of inheritance. We identified two novel mutations (c.455-7T>G in intron 3 and c.507G>A in exon 4) in TMEM38B in three Chinese children with OI. The two mutations created a new acceptor splice site (p.R151_G152insVL) and a novel downstream termination codon (p.W169X), respectively, [RefSeq, PubMed]; This gene encodes an intracellular monovalent cation channel that functions in maintenance of intracellular calcium release. Mutations in this gene may be associated with autosomal recessive osteogenesis. [provided by RefSeq, Oct 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q5JR63;Q5SVN5;Q5SVN6;Q5VTE2;Q6IA97", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0042802 identical protein binding;GO:0005267 potassium channel activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005783 endoplasmic reticulum;GO:0031965 nuclear membrane;GO:0005789 endoplasmic reticulum membrane;GO:0033017 sarcoplasmic reticulum membrane", "go_biological_process": "GO:0051279 regulation of release of sequestered calcium ion into cytosol;GO:0071805 potassium ion transmembrane transport;GO:0014808 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q9NVV0-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WU68-1", "uniprot_id": [ { "id": "U2AF4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WU68", "type": "external" } ], "mass": 25744.0, "length": 220, "protein_name": "Splicing factor U2AF 26 kDa subunit", "gene_name": "U2AF1L4", "organism": "Human", "refseq_name": "splicing factor U2AF 26 kDa subunit isoform 1", "refseq_ac": [ { "id": "NP_001035515", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035515", "type": "external" } ], "gene_names_uniprotkb": "U2AF1L4; U2AF1-RS3; U2AF1L3", "gene_names_refseq": "U2AF1-RS3; U2AF1L3V1; U2AF1L3; U2AF1L4; U2AF1RS3; U2af26", "protein_names_uniprotkb": "Splicing factor U2AF 26 kDa subunit; U2 auxiliary factor 26; U2 small nuclear RNA auxiliary factor 1-like protein 3; U2 small nuclear RNA auxiliary factor 1-like protein 4; U2(RNU2) small nuclear RNA auxiliary factor 1-like protein 3; U2AF1-like 4; U2AF1-like protein 3", "protein_names_refseq": "U2 auxiliary factor 26; U2 small nuclear RNA auxiliary factor 1-like 3; U2 small nuclear RNA auxiliary factor 1-like protein 3; U2 small nuclear RNA auxiliary factor 1-like protein 4; U2(RNU2) small nuclear RNA auxiliary factor 1-like 3; U2(RNU2) small nuclear RNA auxiliary factor 1-like protein 3; U2AF1-like 4; U2AF1-like protein 3; splicing factor U2AF 26 kDa subunit isoform 1; splicing factor U2AF 26 kDa subunit", "tax_id": 9606, "disease": "", "pathway": " (hsa:199746); (R-HSA-159236); (R-HSA-72163); (R-HSA-72187); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 6, "publication_count": 164, "publication_id_list": "10228171;10323864;10489353;10668806;10669729;10882114;11014198;11060040;11073998;11101529;11233976;11237011;11256625;11259411;11259602;11579093;11739738;11747608;11756420;11979277;11991638;12093754;12176931;12411573;12414731;12477934;12871933;14519844;14625303;14713954;14749727;14762106;15037765;15084397;15565158;15998806;16314397;16314458;16809785;17000901;17095540;17128255;17190602;17312947;17332742;17606899;17984224;18288197;18322460;18364396;18411249;18423201;18460468;18593880;18957205;19103666;19165350;19217410;19536130;19836239;20129943;20423332;20573985;20695905;20844015;20980672;21295486;21536652;2176635;21911577;21947206;22022969;22110043;22207203;22365833;22813749;22893130;22928037;22959432;22961380;23222130;23236153;23246698;23299939;23345524;23826332;23874216;24076191;24149845;24196718;24244187;24304693;24448447;24737827;24914973;25301780;25301781;25555158;2558966;25662211;25836925;26092250;26385511;26420826;26969736;27108190;27143377;27377154;27459055;27683217;28062851;28076346;28096519;28502770;28781166;28904123;28911096;29186539;29274231;29301961;29360106;29361316;2963332;29902443;30139799;30257008;30315277;30599162;30705154;30728453;30765414;30833945;30975767;31154438;31409651;32116123;32179686;32329775;32494006;32816001;33177556;33243851;33446560;34171305;34301950;34822310;35051231;35177536;35215846;35385551;3757028;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9618489;9659921;9660949;9671485;9701291;9731529", "class_list": "", "function": "A 269 bp region located between the PSENEN and U2AF1L4 human genes is a genuine bidirectional promoter regulating a concerted divergent transcription of these genes., [RefSeq, PubMed]; Differential isoform expression and interaction with the P32 regulatory protein controls the subcellular localization of the splicing factor U2AF26, [RefSeq, PubMed]; One of the conservative regions is responsible for the enhancer activity and is able to interact with proteins of HeLa cell nuclear extract., [RefSeq, PubMed]; RNA-binding protein that function as a pre-mRNA splicing factor. Plays a critical role in both constitutive and enhancer-dependent splicing by mediating protein-protein interactions and protein-RNA interactions required for accurate 3'-splice site selection. Acts by enhancing the binding of U2AF2 to weak pyrimidine tracts. Also participates in the regulation of alternative pre-mRNA splicing. Activates exon 5 skipping of PTPRC during T-cell activation; an event reversed by GFI1. Binds to RNA at the AG dinucleotide at the 3'-splice site (By similarity). Shows a preference for AGC or AGA (By similarity)., [UniProtKB, UniProtKB]; The zinc finger domains in U2AF26 and U2AF35 have diverse functionalities including a role in controlling translation., [RefSeq, PubMed]; U2AF1L4 gene expression is regulated by cytokines in activated T 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": 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": "A6NKI8;Q56UU3", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0030628 pre-mRNA 3'-splice site binding;GO:0003723 RNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016607 nuclear speck;GO:0005681 spliceosomal complex;GO:0089701 U2AF complex", "go_biological_process": "GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 16.5, "record_id": "Q8WU68-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16890-1", "uniprot_id": [ { "id": "TPD53_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16890", "type": "external" } ], "mass": 22449.0, "length": 204, "protein_name": "Tumor protein D53", "gene_name": "TPD52L1", "organism": "Human", "refseq_name": "tumor protein D53 isoform 2", "refseq_ac": [ { "id": "NP_001003395", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003395", "type": "external" } ], "gene_names_uniprotkb": "TPD52L1", "gene_names_refseq": "D53; TPD52L1; TPD53", "protein_names_uniprotkb": "Tumor protein D53; Tumor protein D52-like 1; hD53", "protein_names_refseq": "tumor protein D52 like 1; tumor protein D53 isoform 2; tumor protein D53", "tax_id": 9606, "disease": "", "pathway": " (hsa:7164); (R-HSA-432722)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "10394364;11237011;11590181;11604418;11694590;11994746;15102850;16155256;17116749;18212344;18669648;19651622;20068231;20166139;23186163;23481700;24129315;24275569;25576301;26992070;27600516;27862975;28834231;29242379;29393594;29557506;29786170;30484775;30779550;31154438;31844290;31848261;32387766;32938616;33537174;34087483;34185709;35318648;35580925;37938771;8374173;8524399;8670264;8812487;9484778", "class_list": "", "function": "This gene encodes a member of a family of proteins that contain coiled-coil domains and may form hetero- or homomers. The encoded protein is involved in cell proliferation and calcium signaling. It also interacts with the mitogen-activated protein kinase kinase kinase 5 (MAP3K5/ASK1) and positively regulates MAP3K5-induced apoptosis. Multiple alternatively spliced transcript variants have been observed. [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": 11, "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": "A8K757;A8K772;A8MUD2;A8MUJ7;A8MW70;F6V707;O43397;Q5TC99;Q5TDQ0;Q9BUQ6;Q9C054", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0046330 positive regulation of JNK cascade;GO:0000086 G2/M transition of mitotic cell cycle;GO:2001235 positive regulation of apoptotic signaling pathway;GO:0043406 positive regulation of MAP kinase activity", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q16890-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y3Q3-1", "uniprot_id": [ { "id": "TMED3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y3Q3", "type": "external" } ], "mass": 24777.0, "length": 217, "protein_name": "Transmembrane emp24 domain-containing protein 3", "gene_name": "TMED3", "organism": "Human", "refseq_name": "transmembrane emp24 domain-containing protein 3 isoform c precursor", "refseq_ac": [ { "id": "NP_001317305", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317305", "type": "external" } ], "gene_names_uniprotkb": "TMED3; C15orf22; PRO1078", "gene_names_refseq": "C15orf22; P24B; TMED3; p24g4; p24gamma4; p26", "protein_names_uniprotkb": "Transmembrane emp24 domain-containing protein 3; Membrane protein p24B; p24 family protein gamma-4; p24gamma4; p26", "protein_names_refseq": "integral type I protein; membrane protein p24B; p24 family protein gamma-4; testis tissue sperm-binding protein Li 48e; transmembrane emp24 domain-containing protein 3 isoform c precursor; transmembrane emp24 domain-containing protein 3; transmembrane emp24 protein transport domain containing 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:23423); (R-HSA-6807878); (R-HSA-6811434)", "pathway_count": 3, "publication_count": 208, "publication_id_list": "10052452;10318838;10445031;10559959;10679020;10761932;10852829;10903204;10921873;11035033;11172815;11237011;11285137;11306556;11461920;11493604;11689559;11703931;11726511;11739780;11748249;12047556;12070132;12237308;12388752;12634853;12975309;14504276;14654841;14742712;15029241;15037235;15272311;15616190;15632110;15728195;15813748;15878873;16030262;1631136;16571679;16633337;16723730;1680566;16912714;16926190;16940185;17113389;17253781;17274799;17360540;17429068;17451557;17697703;17760859;17927562;17956946;18086915;18182008;18283113;18287528;18524849;18809720;1898986;19015319;19109418;19151722;19164740;19296914;19369418;1957170;19631211;19758564;20005805;20112406;20136777;20357002;20427317;20462495;20534429;20637885;21219331;21550981;21689688;21844168;21872626;21993680;22013193;22094269;22304919;22761906;23396477;23481700;23839779;24119662;24714562;24715725;24806965;24920608;25364732;25436559;25492864;25576301;25645385;25880248;26154972;26992070;27397612;27543614;27600516;27846572;27862975;27901021;27920218;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30410026;30429286;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32350084;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33633747;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34357683;34429402;34509645;34561969;34758370;34932366;35051231;35154160;35318648;35358714;35561310;35580925;35951089;36010968;36241641;36284347;37938771;38411267;7691276;7844144;8001155;8128252;8132710;8221884;8253837;8505331;8620540;8636227;8991093;9114004;9150144;9177194;9244307;9288971;9323141;9380700;9382863;9405360;9490716;9671725;9751720;9990005", "class_list": "", "function": "AIM1, ERGIC1, and TPX2 were shown to be highly expressed especially in prostate cancer tissues, and high mRNA expression of ERGIC1 and TMED3 associated with AR and ERG oncogene expression, [RefSeq, PubMed]; Analysis and Validation of TMED3 correlates with poor prognosis and tumor immune infiltration of glioma., [RefSeq, PubMed]; Potential role in vesicular protein trafficking, mainly in the early secretory pathway. Contributes to the coupled localization of TMED2 and TMED10 in the cis-Golgi network., [UniProtKB, PubMed]; Study demonstrates that transmembrane p24 trafficking protein 3 (TMED3) promotes hepatocellular carcinoma (HCC) metastasis and is a potential prognostic biomarker in hepatocellular carcinoma. Study propose that TMED3 promotes HCC metastasis through IL-11/STAT3 signaling. Publication Status: Online-Only, [RefSeq, PubMed]; TMED3 exerts a protumor function in non-small cell lung cancer by enhancing the Wnt/beta-catenin pathway via regulation of AKT., [RefSeq, PubMed]; TMED3 promotes the progression and development of lung squamous cell carcinoma by regulating EZR. Publication Status: Online-Only, [RefSeq, PubMed]; TMED3 stabilizes SMAD2 by counteracting NEDD4-mediated ubiquitination to promote ovarian cancer., [RefSeq, PubMed]; This genome-wide screen has identified two novel metastatic suppressors: TMED3 and SOX12, the knockdown of which increases metastatic growth after direct seeding., [RefSeq, PubMed]; Trafficking protein TMED3 promotes esophageal 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A8K069;B4DN05;Q2T9F8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0030134 COPII-coated ER to Golgi transport vesicle;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0007030 Golgi organization;GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 20.9, "record_id": "Q9Y3Q3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96A57-1", "uniprot_id": [ { "id": "TM230_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96A57", "type": "external" } ], "mass": 13188.0, "length": 120, "protein_name": "Transmembrane protein 230", "gene_name": "TMEM230", "organism": "Human", "refseq_name": "transmembrane protein 230 isoform 2", "refseq_ac": [ { "id": "NP_001009924", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009924", "type": "external" } ], "gene_names_uniprotkb": "TMEM230; C20orf30; HSPC274; PRO4992", "gene_names_refseq": "C20orf30; HSPC274; TMEM230; dJ1116H23.2.1", "protein_names_uniprotkb": "Transmembrane protein 230", "protein_names_refseq": "UPF0414 transmembrane protein C20orf30; transmembrane protein 230 isoform 2", "tax_id": 9606, "disease": "late onset Parkinson's disease (Disease Ontology:DOID:0060892); Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:29058)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "11237011;12975309;18452278;18578522;18669648;19413330;19651622;19690332;20058876;20068231;20230923;21048031;23186163;25576301;25892735;27270108;27600516;28218747;28904123;29393594;29437277;29769354;31844290;32157095;32938616;33212219;33298915;33912179;34087483;34357683;35580925;36241641;38387257;38612777;38960477", "class_list": "", "function": "Controversy of TMEM230 Associated with Parkinson's Disease. Review article, [RefSeq, PubMed]; Involved in trafficking and recycling of synaptic vesicles., [UniProtKB, PubMed]; Loci on chromosome 20 interact with rs16969968 to influence cigarettes per day in European ancestry individuals., [RefSeq, PubMed]; Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator), [RefSeq, PubMed]; TMEM230 mutation is associated with Parkinson's disease., [RefSeq, PubMed]; This gene encodes a multi-pass transmembrane protein that belongs to the TMEM134/TMEM230 protein family. The encoded protein localizes to secretory and recycling vesicle in the neuron and may be involved in synaptic vesicles trafficking and recycling. Mutations in this gene may be linked to familial Parkinson's disease. [provided by RefSeq, Mar 2017]., [RefSeq]; Transmembrane Protein TMEM230, Regulator of Glial Cell Vascular Mimicry and Endothelial Cell Angiogenesis in High-Grade Heterogeneous Infiltrating Gliomas and Glioblastoma. Publication Status: Online-Only, [RefSeq, PubMed]; Transmembrane protein TMEM230, regulator of metalloproteins and motor proteins in gliomas and gliosis. 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": 7, "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": "B2RDM8;D3DVZ9;Q0VGC8;Q5TDS5;Q96ES2;Q9P0A7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005769 early endosome;GO:0016020 membrane;GO:0030424 axon;GO:0055037 recycling endosome;GO:0012505 endomembrane system", "go_biological_process": "GO:0048489 synaptic vesicle transport;GO:0098930 axonal transport", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q96A57-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92956-1", "uniprot_id": [ { "id": "TNR14_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92956", "type": "external" } ], "mass": 30392.0, "length": 283, "protein_name": "Tumor necrosis factor receptor superfamily member 14", "gene_name": "TNFRSF14", "organism": "Human", "refseq_name": "tumor necrosis factor receptor superfamily member 14 isoform 1 precursor", "refseq_ac": [ { "id": "NP_003811", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003811", "type": "external" } ], "gene_names_uniprotkb": "TNFRSF14; HVEA; HVEM; PRO509", "gene_names_refseq": "ATAR; CD270; HVEA; HVEM; LIGHTR; TNFRSF14; TR2", "protein_names_uniprotkb": "Tumor necrosis factor receptor superfamily member 14; Herpes virus entry mediator A; Herpesvirus entry mediator A; HveA; TR2; Tumor necrosis factor receptor-like 2", "protein_names_refseq": "CD40-like protein; herpes virus entry mediator A; tumor necrosis factor receptor superfamily member 14 isoform 1 precursor; tumor necrosis factor receptor superfamily member 14; tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator); tumor necrosis factor receptor-like gene2", "tax_id": 9606, "disease": "arteriosclerosis (Disease Ontology:DOID:2349); myocardial infarction (Disease Ontology:DOID:5844)", "pathway": " (hsa:8764); (R-HSA-5669034); (R-HSA-9927353)", "pathway_count": 3, "publication_count": 73, "publication_id_list": "10.1038/emboj.2013.79;10074428;10359578;10398604;10484778;10597252;10615125;10754304;11237011;11511370;11571266;11756979;11882293;11911831;12189164;12796776;12949498;12975309;14656435;15340161;15356117;15470070;15568026;16169851;16501042;1655907;16932752;17632511;18193050;18571443;18606301;19413330;19915044;20032458;20222921;20307208;20510730;20979233;21300286;22197273;22664871;22801960;23584533;23761635;24070496;24275569;27600516;28832583;29242379;29508533;29557506;29786170;29789417;31844290;31848261;32157095;32357974;34561969;35051231;37033927;37331297;37722959;38831106;7913952;8120384;8871664;8898196;9153189;9162022;9162061;9462508;9696799;9878548", "class_list": "", "function": "(Microbial infection) Acts as a receptor for Herpes simplex virus 1/HHV-1., [UniProtKB, PubMed, PubMed, PubMed]; (Microbial infection) Acts as a receptor for Herpes simplex virus 2/HHV-2., [UniProtKB, PubMed, PubMed]; Genetic deletion of HVEM in a leukemia B cell line promotes a preferential increase of PD-1[-] stem cell-like T cells over PD-1[+] T cells curbing tumor progression. Publication Status: Online-Only, [RefSeq, PubMed]; Increased expression of TNFRSF14 and LIGHT in biliary epithelial cells of patients with primary sclerosing cholangitis., [RefSeq, PubMed]; MIF promotes Th17 cell differentiation in Hashimoto's thyroiditis by binding HVEM and activating NF-kappaB signaling pathway., [RefSeq, PubMed]; Receptor for four distinct ligands: The TNF superfamily members TNFSF14/LIGHT and homotrimeric LTA/lymphotoxin-alpha and the immunoglobulin superfamily members BTLA and CD160, altogether defining a complex stimulatory and inhibitory signaling network (PubMed:10754304, PubMed:18193050, PubMed:23761635, PubMed:9462508). Signals via the TRAF2-TRAF3 E3 ligase pathway to promote immune cell survival and differentiation (PubMed:19915044, PubMed:9153189, PubMed:9162022). Participates in bidirectional cell-cell contact signaling between antigen presenting cells and lymphocytes. In response to ligation of TNFSF14/LIGHT, delivers costimulatory signals to T cells, promoting cell proliferation and effector functions (PubMed:10754304). Interacts with CD160 on NK cells, enhancing IFNG production and anti-tumor immune response (PubMed:23761635). In the context of bacterial infection, acts as a signaling receptor on epithelial cells for CD160 from intraepithelial lymphocytes, triggering the production of antimicrobial proteins and pro-inflammatory cytokines (By similarity). Upon binding to CD160 on activated CD4+ T cells, down-regulates CD28 costimulatory signaling, restricting memory and alloantigen-specific immune response (PubMed:18193050). May interact in cis (on the same cell) or in trans (on other cells) with BTLA (By similarity) (PubMed:19915044). In cis interactions, appears to play an immune regulatory role inhibiting in trans interactions in naive T cells to maintain a resting state. In trans interactions, can predominate during adaptive immune response to provide survival signals to effector T cells (By similarity) (PubMed:19915044)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; The BTLA-HVEM axis restricts CAR T cell efficacy in cancer., [RefSeq, PubMed]; This gene encodes a member of the TNF (tumor necrosis factor) receptor superfamily. The encoded protein functions in signal transduction pathways that activate inflammatory and inhibitory T-cell immune response. It binds herpes simplex virus (HSV) viral envelope glycoprotein D (gD), mediating its entry into cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 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": 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": 2, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 20, "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": "B3KW30;B9DI89;Q6IB95;Q8N634;Q8WXR1;Q96J31;Q9UM65", "ec_number_list": [], "go_molecular_function": "GO:0031625 ubiquitin protein ligase binding;GO:0001618 virus receptor activity;GO:0048018 receptor ligand activity;GO:0005031 tumor necrosis factor receptor activity;GO:0019955 cytokine binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0002725 negative regulation of T cell cytokine production;GO:0006955 immune response;GO:0007166 cell surface receptor signaling pathway;GO:0045087 innate immune response;GO:0050829 defense response to Gram-negative bacterium", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q92956-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60296-1", "uniprot_id": [ { "id": "TRAK2_HUMAN", "url": "https://www.uniprot.org/uniprot/O60296", "type": "external" } ], "mass": 101419.0, "length": 914, "protein_name": "Trafficking kinesin-binding protein 2", "gene_name": "TRAK2", "organism": "Human", "refseq_name": "trafficking kinesin-binding protein 2", "refseq_ac": [ { "id": "NP_055864", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055864", "type": "external" } ], "gene_names_uniprotkb": "TRAK2; ALS2CR3; KIAA0549", "gene_names_refseq": "ALS2CR3; CALS-C; GRIF-1; GRIF1; MILT2; OIP98; TRAK2", "protein_names_uniprotkb": "Trafficking kinesin-binding protein 2; Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 3 protein", "protein_names_refseq": "O-linked N-acetylglucosamine transferase interacting protein 98; amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3; amyotrophic lateral sclerosis 2 chromosomal region candidate gene 3 protein; gamma-aminobutyric acid(A) receptor-interacting factor; milton homolog 2; trafficking kinesin-binding protein 2; trafficking protein, kinesin binding 2", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 68 (Disease Ontology:DOID:0112204); neurodegenerative disease (Disease Ontology:DOID:1289)", "pathway": " (hsa:66008); (R-HSA-9013419); (R-HSA-9013425)", "pathway_count": 3, "publication_count": 46, "publication_id_list": "11161814;11237011;12034717;16630562;18491316;19103291;23186163;25653102;26658612;27600516;27862975;28655204;28832583;29242379;29393594;29493099;29557506;29632046;29694881;29786170;30111583;30513825;31479585;31844290;32157095;32161166;32267991;32387766;32938616;32938750;32983136;33392160;33912179;33981976;34019948;34321481;35051231;35251023;35289036;35580925;36010968;36284347;38253038;38665916;39302247;41350704", "class_list": "", "function": "Full-length APC promotes assembly of the Miro-1/Milton-2 complex., [RefSeq, PubMed]; Identification, molecular cloning and characterization, [RefSeq, PubMed]; May regulate endosome-to-lysosome trafficking of membrane cargo, including EGFR., [UniProtKB]; MiR-487b and TRAK2 that form an axis to regulate the aggressiveness of osteosarcoma, are potential therapeutic targets and prognostic biomarkers., [RefSeq, PubMed]; Mitochondrial adaptor TRAK2 activates and functionally links opposing kinesin and dynein motors. Publication Status: Online-Only, [RefSeq, PubMed]; TRAK2 is a novel regulator of LXR-mediated ABCA1 expression, cholesterol efflux, and HDL biogenesis. TRAK2 may therefore be an important target in the development of anti-atherosclerotic therapies., [RefSeq, PubMed]; This study showed that the TRAK2 was more prevalent in dendrites of hippocampal neurons. In cortical neurons, TRAK2 was equally distributed between axons and dendrites., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "E7EV21;Q8WVH7;Q96NS2;Q9C0K5;Q9C0K6", "ec_number_list": [], "go_molecular_function": "GO:0030911 TPR domain binding;GO:0005102 signaling receptor binding;GO:0019899 enzyme binding;GO:0017022 myosin binding;GO:0019894 kinesin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005769 early endosome;GO:0005829 cytosol", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0006493 protein O-linked glycosylation;GO:0006605 protein targeting;GO:0008333 endosome to lysosome transport;GO:0048813 dendrite morphogenesis", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "O60296-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N394-1", "uniprot_id": [ { "id": "TMTC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N394", "type": "external" } ], "mass": 94130.0, "length": 836, "protein_name": "Protein O-mannosyl-transferase TMTC2", "gene_name": "TMTC2", "organism": "Human", "refseq_name": "protein O-mannosyl-transferase TMTC2 isoform 2", "refseq_ac": [ { "id": "NP_001307250", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307250", "type": "external" } ], "gene_names_uniprotkb": "TMTC2", "gene_names_refseq": "IBDBP1; TMTC2", "protein_names_uniprotkb": "Protein O-mannosyl-transferase TMTC2; 2.4.1.109; Transmembrane O-mannosyltransferase targeting cadherins 2; Transmembrane and tetratricopeptide repeat-containing 2", "protein_names_refseq": "protein O-mannosyl-transferase TMTC2 isoform 2; protein O-mannosyl-transferase TMTC2; transmembrane and TPR repeat-containing protein 2; transmembrane and tetratricopeptide repeat containing 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:160335)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "11237011;18519826;19386601;19625618;24764305;25576301;25645385;25892735;26992070;27311106;28834231;28973932;29242379;29557506;30620550;30729851;30779550;30833945;31094927;31154438;31844290;31848261;32157095;32161166;32387766;32488085;32938616;33436046;33592498;33968037;33981976;35051231;35580925;36284347", "class_list": "", "function": "A previously uncharacterized gene, TMTC2, has been identified as a candidate for causing progressive sensorineural hearing loss in humans. This finding identifies a novel locus that causes autosomal dominant SNHL., [RefSeq, PubMed]; Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [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]; Findings provide an important link between aneuploidy and the stress pathways activated by Aurora B inhibition and also support the use of Aurora B inhibitors in combination therapy for treatment of cancer., [RefSeq, PubMed]; Metastasizing pleomorphic adenomas with recurrent PLAG1/HMGA2 gene rearrangements and a novel HMGA2-TMTC2 fusion., [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Polymorphism rs7961953 in TMTC2 gene is not associated with primary open-angle glaucoma., [RefSeq, PubMed]; TMTC2 expression induced by HIF-2alpha., [RefSeq, PubMed]; The protein encoded by this gene is an integral membrane protein localized to the endoplasmic reticulum (ER). The encoded protein contains many tetratricopeptide repeats, sequences known for being involved in protein-protein interactions. This protein binds both the calcium uptake pump SERCA2B and the carbohydrate-binding chaperone calnexin, and it appears to play a role in calcium homeostasis in the ER. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]., [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., [UniProtKB, PubMed, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 30, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RCU7;Q8N2K8", "ec_number_list": [ { "id": "2.4.1.109", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.109", "type": "external" } ], "go_molecular_function": "GO:0004169 dolichyl-phosphate-mannose-protein mannosyltransferase activity;GO:0000030 mannosyltransferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:0016020 membrane", "go_biological_process": "GO:0055074 calcium ion homeostasis;GO:0035269 protein O-linked glycosylation via mannose", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q8N394-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P55327-1", "uniprot_id": [ { "id": "TPD52_HUMAN", "url": "https://www.uniprot.org/uniprot/P55327", "type": "external" } ], "mass": 24327.0, "length": 224, "protein_name": "Tumor protein D52", "gene_name": "TPD52", "organism": "Human", "refseq_name": "tumor protein D52 isoform 1", "refseq_ac": [ { "id": "NP_001020423", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020423", "type": "external" } ], "gene_names_uniprotkb": "TPD52", "gene_names_refseq": "D52; N8L; PC-1; PrLZ; TPD52; hD52", "protein_names_uniprotkb": "Tumor protein D52; Protein N8", "protein_names_refseq": "prostate and colon associated protein; prostate leucine zipper; protein N8; tumor protein D52 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:7163); (R-HSA-432722)", "pathway_count": 2, "publication_count": 80, "publication_id_list": "10394364;11237011;11590181;11604418;11694590;11994746;14996714;15102850;16155256;17081983;17116749;17287340;18212344;18452278;18669648;18707149;18767875;18832449;19615748;19732746;20032513;20068231;20166139;20946871;23481700;24715725;25502872;25576301;25810538;26375851;26992070;27846572;28657654;28832583;29242379;29508533;29557506;29789417;30315122;30524438;30573663;30833945;31154438;31217245;31222486;31373491;31530632;31844290;31848261;31998317;32157095;32350084;32387766;32488085;32938616;32983136;33465208;33936100;33968037;34019948;34185709;34357683;34932366;35051231;35154160;35194188;35580925;36241641;37140169;37564195;37833790;39097779;40136647;40596516;7796418;8374173;8524399;8632896;8670264;9484778", "class_list": "", "function": "Alternative splicing may contribute to abnormally enhanced PrLZ levels in prostate cancer, and interaction with 14-3-3 proteins may be a mechanism by which PrLZ promotes cell proliferation and survival during prostate cancer development and progression., [RefSeq, PubMed]; Androgen receptor suppresses lung cancer invasion and increases cisplatin response via decreasing TPD52 expression. Publication Status: Online-Only, [RefSeq, PubMed]; Cross talk of tumor protein D52 (TPD52) with KLF9, PKCepsilon, and MicroRNA 223 in ovarian cancer. Publication Status: Online-Only, [RefSeq, PubMed]; KLF7 enhances the invasion and migration of colorectal cancer cells via the miR-139-5p/TPD52 axis., [RefSeq, PubMed]; Long noncoding RNA FTX promotes epithelial-mesenchymal transition of epithelial ovarian cancer through modulating miR-7515/TPD52 and activating Met/Akt/mTOR., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 11, "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": 4, "binding_glycan_count": 0, "secondary_ac_list": "B7Z414;C9J502;D0UFD1;D0UFD2;D0UFD3;D0UFD4;D0UFD5;E5RKB4;Q13056;Q53EK8;Q6FGP3;Q6FGS3;Q86YZ2;Q9UCX8", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0030183 B cell differentiation;GO:0009653 anatomical structure morphogenesis;GO:0046903 secretion", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "P55327-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NBT3-1", "uniprot_id": [ { "id": "TM145_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NBT3", "type": "external" } ], "mass": 55534.0, "length": 493, "protein_name": "Transmembrane protein 145", "gene_name": "TMEM145", "organism": "Human", "refseq_name": "transmembrane protein 145 isoform 2 precursor", "refseq_ac": [ { "id": "NP_775904", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775904", "type": "external" } ], "gene_names_uniprotkb": "TMEM145", "gene_names_refseq": "TMEM145", "protein_names_uniprotkb": "Transmembrane protein 145", "protein_names_refseq": "transmembrane protein 145 isoform 2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:284339)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "10.1101/2023.09.13.557529;11237011;25157982;25892735;29393594;31844290;32161166;32357974;32387766;36215666;37217939", "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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0019236 response to pheromone", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q8NBT3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HC07-1", "uniprot_id": [ { "id": "TM165_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HC07", "type": "external" } ], "mass": 34906.0, "length": 324, "protein_name": "Putative divalent cation/proton antiporter TMEM165", "gene_name": "TMEM165", "organism": "Human", "refseq_name": "putative divalent cation/proton antiporter TMEM165 precursor", "refseq_ac": [ { "id": "NP_060945", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060945", "type": "external" } ], "gene_names_uniprotkb": "TMEM165; TPARL", "gene_names_refseq": "CDG2K; FT27; GDT1; SLC64A1; TMEM165; TMPT27; TPARL", "protein_names_uniprotkb": "Putative divalent cation/proton antiporter TMEM165; Transmembrane protein 165; Transmembrane protein PT27; Transmembrane protein TPARL", "protein_names_refseq": "TPA regulated locus; putative divalent cation/proton antiporter TMEM165 precursor; putative divalent cation/proton antiporter TMEM165; transmembrane protein PT27; transmembrane protein TPARL", "tax_id": 9606, "disease": "congenital disorder of glycosylation type II (Disease Ontology:DOID:0050571); congenital disorder of glycosylation type IIk (Disease Ontology:DOID:0070263)", "pathway": " (hsa:55858)", "pathway_count": 1, "publication_count": 60, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10931946;11237011;22683087;23430531;23569283;23575229;23584533;25502872;25576301;25813380;25892735;27008884;27452731;27600516;28218747;28467828;28514659;28832583;28904123;29242379;29393594;29437277;29508533;29557506;29769354;29786170;30459171;31217245;31415112;31611695;31652305;31844290;32047108;32157095;32350084;32387766;32488085;32700771;32938616;32983136;33633747;33717175;33912179;33968037;34171305;34357683;34509645;34846842;35051231;35251023;35580925;36010968;36215666;36284347;37062452;38253038;40307207;40596516", "class_list": "glycogene", "function": "Defects in TMEM165 affect both Ca2+ and pH homeostasis., [RefSeq, PubMed]; Fetal bovine serum impacts the observed N-glycosylation defects in TMEM165 KO HEK cells., [RefSeq, PubMed]; Insights into the regulation of cellular Mn[2+] homeostasis via TMEM165., [RefSeq, PubMed]; Putative divalent cation:proton antiporter that exchanges calcium or manganese ions for protons across the Golgi membrane. Mediates the reversible transport of calcium or manganese to the Golgi lumen driven by the proton gradient and possibly the membrane potential generated by V-ATPase. Provides calcium or manganese cofactors to resident Golgi enzymes and contributes to the maintenance of an acidic luminal Golgi pH required for proper functioning of the secretory pathway (By similarity) (PubMed:22683087, PubMed:23569283, PubMed:27008884, PubMed:32047108). Promotes Ca(2+) storage within the Golgi lumen of the mammary epithelial cells to be then secreted into milk (By similarity). The transport mechanism and stoichiometry remains to be elucidated., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, UniProtKB]; Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies. Erratum:[J Inherit Metab Dis. 2022 Nov;45(6):1206. doi: 10.1002/jimd.12424. PMID: 36343938], [RefSeq, PubMed]; TMEM165 was constitutively degraded in lysosomes in the absence of SPCA1., [RefSeq, PubMed]; The human Golgi protein TMEM165 transports calcium and manganese in yeast and bacterial cells., [RefSeq, PubMed]; This gene encodes a predicted transmembrane protein with a perinuclear Golgi-like distribution in fibroblasts. Mutations in this gene are associated with the autosomal recessive disorder congenital disorder of glycosylation, type IIk. Knockdown of this gene's expression causes decreased sialylation in HEK cells and suggests this gene plays a role in terminal Golgi glycosylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]., [RefSeq]; We identified TMEM165 (also named TPARL) as a gene involved in congenital disorders of glycosylation (CDG)., [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": 2, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 356, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 2, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A8K3P8;B4DHW1;Q9BTN9;Q9NZ34", "ec_number_list": [], "go_molecular_function": "GO:0015297 antiporter activity;GO:0015085 calcium ion transmembrane transporter activity;GO:0005384 manganese ion transmembrane transporter activity;GO:0046873 metal ion transmembrane transporter activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0032588 trans-Golgi network membrane;GO:0005765 lysosomal membrane;GO:0010008 endosome membrane", "go_biological_process": "GO:0006816 calcium ion transport;GO:0006874 intracellular calcium ion homeostasis;GO:0006487 protein N-linked glycosylation;GO:0070588 calcium ion transmembrane transport;GO:0006828 manganese ion transport", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q9HC07-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001000.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A5PLL7-1", "uniprot_id": [ { "id": "PEDS1_HUMAN", "url": "https://www.uniprot.org/uniprot/A5PLL7", "type": "external" } ], "mass": 31135.0, "length": 270, "protein_name": "Plasmanylethanolamine desaturase 1", "gene_name": "PEDS1", "organism": "Human", "refseq_name": "plasmanylethanolamine desaturase 1 isoform 2", "refseq_ac": [ { "id": "NP_001155977", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155977", "type": "external" } ], "gene_names_uniprotkb": "PEDS1; KUA; PEDS; TMEM189", "gene_names_refseq": "CarF; KUA; PEDS1; TMEM189", "protein_names_uniprotkb": "Plasmanylethanolamine desaturase 1; 1.14.19.77; Transmembrane protein 189", "protein_names_refseq": "CarF homolog; plasmanylethanolamine desaturase 1 isoform 2; transmembrane protein 189", "tax_id": 9606, "disease": "", "pathway": " (hsa:387521); (hsa:387522)", "pathway_count": 2, "publication_count": 60, "publication_id_list": "11076860;11237011;11280764;15201997;20112406;20128819;21048031;21932426;24992895;25418920;25505266;25662406;26154972;26929215;27549314;27703488;27846572;28218747;28228285;28416261;28622427;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29938870;30410026;31154438;31604315;31844290;31848261;31998317;32157095;32209662;32236612;32387766;32488085;32502341;32897882;32938616;32983136;33437477;33592498;33633747;33859415;33912179;33968037;34357683;35051231;35580925;35843092;36241641", "class_list": "", "function": "Co-transcription of this gene and the neighboring downstream gene (ubiquitin-conjugating enzyme E2 variant 1) generates a rare read-through transcript, which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. The protein encoded by this individual gene lacks a UEV1 domain but includes three transmembrane regions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]., [RefSeq]; Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator), [RefSeq, PubMed]; Plasmanylethanolamine desaturase involved in plasmalogen biogenesis in the endoplasmic reticulum membrane (PubMed:31604315, PubMed:32209662, PubMed:33859415). Plasmalogens are glycerophospholipids with a hydrocarbon chain linked by a vinyl ether bond at the glycerol sn-1 position, and are involved in antioxidative and signaling mechanisms (PubMed:31604315)., [UniProtKB, PubMed, PubMed, PubMed]; TMEM189 could functionally replace CarF in M. xanthus, and knockout of TMEM189 in a human cell line eliminated plasmalogens; study reveals TMEM189 as the long-sought desaturase for animal plasmalogen biosynthesis, [RefSeq, PubMed]; TMEM189 promotes breast cancer through inhibition of autophagy-regulated ferroptosis., [RefSeq, PubMed]; These results assign the TMEM189 gene to plasmanylethanolamine desaturase and suggest that the previously characterized phenotype of Tmem189-deficient mice may be caused by a lack of plasmalogens., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 12, "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": [ { "id": "1.14.19.77", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.19.77", "type": "external" } ], "go_molecular_function": "GO:0050207 plasmanylethanolamine desaturase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:0016020 membrane", "go_biological_process": "GO:0006631 fatty acid metabolic process;GO:0008611 ether lipid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "A5PLL7-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BRZ2-1", "uniprot_id": [ { "id": "TRI56_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BRZ2", "type": "external" } ], "mass": 81488.0, "length": 755, "protein_name": "E3 ubiquitin-protein ligase TRIM56", "gene_name": "TRIM56", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase TRIM56", "refseq_ac": [ { "id": "NP_112223", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112223", "type": "external" } ], "gene_names_uniprotkb": "TRIM56; RNF109", "gene_names_refseq": "RNF109; TRIM56", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase TRIM56; 2.3.2.27; RING finger protein 109; Tripartite motif-containing protein 56", "protein_names_refseq": "E3 ubiquitin-protein ligase TRIM56; RING finger protein 109; RING-type E3 ubiquitin transferase TRIM56; tripartite motif-containing protein 56", "tax_id": 9606, "disease": "", "pathway": " (hsa:81844); (R-HSA-3134975)", "pathway_count": 2, "publication_count": 95, "publication_id_list": "11237011;17081983;18691976;19651622;20068231;21074459;21289118;21862588;22388039;22745133;22948160;23186163;23222971;23481700;24275569;24714562;24715725;25253338;25418920;25576301;25645385;25892735;26154972;26375851;26728094;26992070;27600516;27846572;27862975;27920218;28063628;28084320;28228285;28254787;28352266;28649982;28832583;28834231;28904123;29242379;29426904;29493099;29508533;29557506;29632046;29769354;29786170;29789417;30315122;30379171;30410026;30429286;30524438;31154438;31217245;31251739;31530632;31844290;31848261;31937595;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34211107;34509645;34932366;35051231;35561310;35580925;35952808;36010968;36902478;37938771;38348047;38556084;39059592;39348396;40914422", "class_list": "", "function": "E3 ubiquitin-protein ligase that plays a key role in innate antiviral immunity by mediating ubiquitination of CGAS and STING1 (PubMed:21289118, PubMed:29426904). In response to pathogen- and host-derived double-stranded DNA (dsDNA), targets STING1 to 'Lys-63'-linked ubiquitination, thereby promoting its homodimerization, a step required for the production of type I interferon IFN-beta (By similarity). Also mediate monoubiquitination of CGAS, thereby promoting CGAS oligomerization and subsequent activation (PubMed:29426904). Promotes also TNFalpha-induced NF-kappa-B signaling by mediating 'Lys-63'-linked ubiquitination TAK1, leading to enhanced interaction between TAK1 and CHUK/IKKalpha (PubMed:35952808). Independently of its E3 ubiquitin ligase activity, positive regulator of TLR3 signaling. Potentiates extracellular double stranded RNA (dsRNA)-induced expression of IFNB1 and interferon-stimulated genes ISG15, IFIT1/ISG56, CXCL10, OASL and CCL5/RANTES (PubMed:22948160). Promotes establishment of an antiviral state by TLR3 ligand and TLR3-mediated chemokine induction following infection by hepatitis C virus (PubMed:22948160). Acts as a restriction factor of Zika virus through direct interaction with the viral RNA via its C-terminal region (PubMed:31251739)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Key roles for phosphorylation and the Coiled-coil domain in TRIM56-mediated positive regulation of TLR3-TRIF-dependent innate immunity., [RefSeq, PubMed]; PGRMC1 promotes NSCLC stemness phenotypes by disrupting TRIM56-mediated ubiquitination of AHR., [RefSeq, PubMed]; TRIM56 is an essential component of the TLR3 antiviral signaling pathway and reveal a novel role for TRIM56 in innate antiviral immunity., [RefSeq, PubMed]; TRIM56 is an interferon-inducible E3 ubiquitin ligase that modulates STING to confer double-stranded DNA-mediated innate immune responses., [RefSeq, PubMed]; TRIM56 restricts Coxsackievirus B infection by mediating the ubiquitination of viral RNA-dependent RNA polymerase 3D. Publication Status: Online-Only, [RefSeq, PubMed]; TRIM56: a promising prognostic immune biomarker for glioma revealed by pan-cancer and single-cell analysis. Publication Status: Online-Only, [RefSeq, PubMed]; The Functions of TRIM56 in Antiviral Innate Immunity and Tumorigenesis. Review article Publication Status: Online-Only, [RefSeq, PubMed]; These data demonstrate that TRIM56 is a novel antiviral host factor that restricts pestivirus infection., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 2, "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": "Q6PJS5;Q86VT6;Q8N2H8;Q8NAC0;Q9H031", "ec_number_list": [ { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0045087 innate immune response;GO:0051607 defense response to virus;GO:1901224 positive regulation of non-canonical NF-kappaB signal transduction;GO:0070534 protein K63-linked ubiquitination;GO:0060340 positive regulation of type I interferon-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "Q9BRZ2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96MH6-1", "uniprot_id": [ { "id": "DIESL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96MH6", "type": "external" } ], "mass": 37425.0, "length": 324, "protein_name": "DGAT1/2-independent enzyme synthesizing storage lipids", "gene_name": "TMEM68", "organism": "Human", "refseq_name": "DGAT1/2-independent enzyme synthesizing storage lipids isoform 1", "refseq_ac": [ { "id": "NP_001273586", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273586", "type": "external" } ], "gene_names_uniprotkb": "TMEM68", "gene_names_refseq": "DIESL; MGAT/DGAT; TMEM68", "protein_names_uniprotkb": "DGAT1/2-independent enzyme synthesizing storage lipids; 2-acylglycerol/1,2-diacylglycerol O-acyltransferase; 2.3.1.-; 2.3.1.20; 2.3.1.22; DIESL; MGAT/DGAT; Monoacylglycerol/Diacylglycerol O-acyltransferase; Transmembrane protein 68", "protein_names_refseq": "2-acylglycerol/1,2-diacylglycerol O-acyltransferase; DGAT1/2-independent enzyme synthesizing storage lipids isoform 1; DGAT1/2-independent enzyme synthesizing storage lipids; monoacylglycerol/Diacylglycerol O-acyltransferase", "tax_id": 9606, "disease": "", "pathway": " (hsa:137695)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;26992070;28904123;29437277;31844290;32157095;32938616;32983136;36768334;37648867", "class_list": "", "function": "Catalytic subunit of the alternative triglyceride biosynthesis pathway, which mediates formation of triacylglycerol from diacylglycerol and membrane phospholipids (PubMed:37648867). Synthesizes triacylglycerol at the expense of membrane phospholipids, such as phosphatidylcholine (PC) and its ether-linked form (ePC), thereby altering the composition of membranes (PubMed:37648867). The alternative triglyceride biosynthesis pathway is probably required to provide the energy required for rapid growth when fuel sources are limiting (PubMed:37648867). It maintains mitochondrial function during periods of extracellular lipid starvation (PubMed:37648867). Can also use acyl-CoA as donor: acts as a acyl-CoA:monoacylglycerol acyltransferase (MGAT), but also shows acyl-CoA:diacylglycerol acyltransferase (DGAT) activity (By similarity)., [UniProtKB, UniProtKB, PubMed]; Identification of an alternative triglyceride biosynthesis pathway., [RefSeq, PubMed]; Transmembrane Protein 68 Functions as an MGAT and DGAT Enzyme for Triacylglycerol Biosynthesis. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "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": "Q658X6;Q8WUD2", "ec_number_list": [ { "id": "2.3.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.20", "type": "external" }, { "id": "2.3.1.76", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.76", "type": "external" }, { "id": "2.3.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.22", "type": "external" }, { "id": "2.3.1.75", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.75", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.62", "type": "external" } ], "go_molecular_function": "GO:0004144 diacylglycerol O-acyltransferase activity;GO:0003846 2-acylglycerol O-acyltransferase activity;GO:0046027 phospholipid:diacylglycerol acyltransferase activity;GO:0016746 acyltransferase activity", "go_cellular_component": "GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0019432 triglyceride biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q96MH6-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13445-1", "uniprot_id": [ { "id": "TMED1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13445", "type": "external" } ], "mass": 25206.0, "length": 227, "protein_name": "Transmembrane emp24 domain-containing protein 1", "gene_name": "TMED1", "organism": "Human", "refseq_name": "transmembrane emp24 domain-containing protein 1 precursor", "refseq_ac": [ { "id": "NP_006849", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006849", "type": "external" } ], "gene_names_uniprotkb": "TMED1; IL1RL1LG; IL1RL1L", "gene_names_refseq": "IL1RL1LG; Il1rl1l; TMED1; Tp24; p24g1", "protein_names_uniprotkb": "Transmembrane emp24 domain-containing protein 1; Interleukin-1 receptor-like 1 ligand; Putative T1/ST2 receptor-binding protein; Tp24; p24 family protein gamma-1; p24gamma1", "protein_names_refseq": "IL1RL1-binding protein; interleukin 1 receptor-like 1 ligand; p24 family protein gamma-1; putative T1/ST2 receptor-binding protein; transmembrane emp24 domain-containing protein 1 precursor; transmembrane emp24 domain-containing protein 1; transmembrane emp24 protein transport domain containing 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:11018)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "10852829;11237011;12237308;16959974;19892738;23319592;27726376;28218747;28904123;29242379;29314611;29437277;29632711;30315122;31530632;31844290;32119511;32357974;32614325;32897882;32938616;32983136;33043033;33091337;33298915;33392160;33936100;33968037;34357683;34634369;34725712;35051231;35154160;36010968;36241641;38665916;8621446", "class_list": "", "function": "Potential role in vesicular protein trafficking, mainly in the early secretory pathway. May act as a cargo receptor at the lumenal side for incorporation of secretory cargo molecules into transport vesicles and may be involved in vesicle coat formation at the cytoplasmic side. Plays a positive role in IL-33-mediated IL-8 and IL-6 production by interacting with interleukin-33 receptor IL1RL1 (PubMed:23319592). Also plays a role in the modulation of innate immune signaling through the cGAS-STING pathway by interacting with RNF26 (PubMed:32614325)., [UniProtKB, PubMed, PubMed]; Structural and thermodynamic analyses of human TMED1 (p24gamma1) Golgi dynamics., [RefSeq, PubMed]; The GOLD domain-containing protein TMED1 is involved in interleukin-33 signaling, [RefSeq, PubMed]; This gene belongs to the TMED (transmembrane emp24 domain-containing) protein family, which is involved in the vesicular trafficking of proteins. The protein encoded by this gene was identified by its interaction with interleukin 1 receptor-like 1 (IL1RL1) and may play a role in innate immunity. This protein lacks any similarity to other interleukin 1 ligands. Alternative splicing results in multiple transcript variants of this gene. [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": 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": "", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0030134 COPII-coated ER to Golgi transport vesicle;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0007165 signal transduction;GO:0007267 cell-cell signaling;GO:0045087 innate immune response;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q13445-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UJV3-1", "uniprot_id": [ { "id": "TRIM1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UJV3", "type": "external" } ], "mass": 83210.0, "length": 735, "protein_name": "Probable E3 ubiquitin-protein ligase MID2", "gene_name": "MID2", "organism": "Human", "refseq_name": "probable E3 ubiquitin-protein ligase MID2 isoform 1", "refseq_ac": [ { "id": "NP_036348", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036348", "type": "external" } ], "gene_names_uniprotkb": "MID2; FXY2; RNF60; TRIM1", "gene_names_refseq": "FXY2; MID2; MRX101; RNF60; TRIM1; XLID101", "protein_names_uniprotkb": "Probable E3 ubiquitin-protein ligase MID2; 2.3.2.27; Midin-2; Midline defect 2; Midline-2; RING finger protein 60; RING-type E3 ubiquitin transferase MID2; Tripartite motif-containing protein 1", "protein_names_refseq": "RING finger protein 60; RING-type E3 ubiquitin transferase MID2; midin 2; midline defect 2; probable E3 ubiquitin-protein ligase MID2 isoform 1; probable E3 ubiquitin-protein ligase MID2; tripartite motif protein 1; tripartite motif-containing protein 1", "tax_id": 9606, "disease": "non-syndromic X-linked intellectual disability 101 (Disease Ontology:DOID:0112048)", "pathway": " (hsa:11043)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "10400986;10644436;11237011;11806752;24115387;30779550;30833945;31154438;31848261;33968037;33981976;34087483;34171305;35051231;35266954;38467738;38755678", "class_list": "", "function": "CircTRIM1 encodes TRIM1-269aa to promote chemoresistance and metastasis of TNBC via enhancing CaM-dependent MARCKS translocation and PI3K/AKT/mTOR activation. Publication Status: Online-Only, [RefSeq, PubMed]; E3 ubiquitin ligase that plays a role in microtubule stabilization. Mediates the 'Lys-48'-linked polyubiquitination of LRRK2 to drive its localization to microtubules and its proteasomal degradation in neurons. This ubiquitination inhibits LRRK2 kinase activation by RAB29 (PubMed:35266954)., [UniProtKB, PubMed, PubMed]; Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies., [RefSeq, PubMed]; MID2 coiled-coil motifs mediate both homo- and heterodimerization, a prerequisite for association of the MID-alpha 4 complex with microtubules., [RefSeq, PubMed]; The E3 ligase TRIM1 ubiquitinates LRRK2 and controls its localization, degradation, and toxicity., [RefSeq, PubMed]; The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to microtubular structures in the cytoplasm. Alternate splicing of this gene results in two 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A6NEL8;A6PVI5;Q5JYF5;Q8WWK1;Q9UJR9", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0008017 microtubule binding;GO:0008270 zinc ion binding;GO:0019899 enzyme binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005874 microtubule;GO:0070062 extracellular exosome", "go_biological_process": "GO:0032897 negative regulation of viral transcription;GO:0044790 suppression of viral release by host;GO:0045087 innate immune response;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0010508 positive regulation of autophagy", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q9UJV3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35125-1", "uniprot_id": [ { "id": "UBP6_HUMAN", "url": "https://www.uniprot.org/uniprot/P35125", "type": "external" } ], "mass": 158658.0, "length": 1406, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 6", "gene_name": "USP6", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 6", "refseq_ac": [ { "id": "NP_001291213", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291213", "type": "external" } ], "gene_names_uniprotkb": "USP6; HRP1; TRE2", "gene_names_refseq": "HRP1; TRE17; TRE2; TRESMCR; Tre-2; USP6-short; USP6", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 6; 3.4.19.12; Deubiquitinating enzyme 6; Proto-oncogene TRE-2; RN-tre; Ubiquitin thioesterase 6; Ubiquitin-specific-processing protease 6", "protein_names_refseq": "RN-tre; TBC1D3 and USP32 fusion; deubiquitinating enzyme 6; hyperpolymorphic gene 1; proto-oncogene TRE-2; ubiquitin carboxyl-terminal hydrolase 6; ubiquitin specific peptidase 6 (Tre-2 oncogene); ubiquitin specific protease 6 (Tre-2 oncogene); ubiquitin thioesterase 6; ubiquitin thiolesterase 6; ubiquitin-specific protease USP6; ubiquitin-specific-processing protease 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:9098)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "12604796;12612085;14521938;15026324;15509780;1565468;16127172;18669648;19077034;20418905;23481700;25892735;27600516;27846572;27862975;28832583;28904123;29242379;29769354;30315122;31154438;31844290;31848261;32157095;32357974;32387766;32488085;32938616;33691108;33968037;34211107;34509645;35051231;35580925;35926707;36010968;36205240;36241641;36504363;38651320;39167308;8247125", "class_list": "", "function": "Deubiquitinase with an ATP-independent isopeptidase activity, cleaving at the C-terminus of the ubiquitin moiety. Catalyzes its own deubiquitination. In vitro, isoform 2, but not isoform 3, shows deubiquitinating activity. Promotes plasma membrane localization of ARF6 and selectively regulates ARF6-dependent endocytic protein trafficking. Is able to initiate tumorigenesis by inducing the production of matrix metalloproteinases following NF-kappa-B activation. May act as a GTPase-activating protein for RAB3A (PubMed:19077034)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Frequency of translocation of USP-6 in the aneurysmal bone cyst of the jaw., [RefSeq, PubMed]; Histopathogenesis of bone- and soft-tissue tumor spectrum with USP6 gene rearrangement: multiple partners involved in the tissue repair process. Review article, [RefSeq, PubMed]; Nodular Fasciitis of the Buccal Mucosa with a Novel USP6 Gene Rearrangement: A Case Report and Review of the Literature. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Recurrent USP6 rearrangement in a subset of atypical myofibroblastic tumours of the soft tissues: low-grade myofibroblastic sarcoma or atypical/malignant nodular fasciitis?, [RefSeq, PubMed]; Ubiquitin-specific protease TRE17/USP6 promotes tumor cell invasion through the regulation of glycoprotein CD147 intracellular trafficking., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B9A6N0;Q15634;Q86WP6;Q8IWT4", "ec_number_list": [], "go_molecular_function": "GO:0005516 calmodulin binding;GO:0003676 nucleic acid binding;GO:0004197 cysteine-type endopeptidase activity;GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0055037 recycling endosome", "go_biological_process": "GO:0036211 protein modification process;GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0060627 regulation of vesicle-mediated transport;GO:0099149 regulation of postsynaptic neurotransmitter receptor internalization", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "P35125-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2T9K0-1", "uniprot_id": [ { "id": "TMM44_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2T9K0", "type": "external" } ], "mass": 52201.0, "length": 475, "protein_name": "Transmembrane protein 44", "gene_name": "TMEM44", "organism": "Human", "refseq_name": "transmembrane protein 44 isoform b", "refseq_ac": [ { "id": "NP_001011655", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001011655", "type": "external" } ], "gene_names_uniprotkb": "TMEM44", "gene_names_refseq": "TMEM44", "protein_names_uniprotkb": "Transmembrane protein 44", "protein_names_refseq": "transmembrane protein 44 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:93109)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11237011;23186163;23481700;24715725;26154972;27862975;28218747;28514659;28904123;29242379;29437277;29769354;30315122;30620550;31217245;31844290;32387766;32488085;32938616;33392160;33592498;33968037;34357683;34433824;35051231;36581221;37561335;38253038", "class_list": "", "function": "TMEM44 as a Novel Prognostic Marker for Kidney Renal Clear Cell Carcinoma is Associated with Tumor Invasion, Migration and Immune Infiltration., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 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": "A1L3V7;B7ZLZ5;B7ZLZ6;C9JJ62;E9PGA9;Q0P6F7;Q6ZT47;Q8IXR1;Q8N4G3", "ec_number_list": [], "go_molecular_function": "GO:0015174 basic amino acid transmembrane transporter activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q2T9K0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96LD4-1", "uniprot_id": [ { "id": "TRI47_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96LD4", "type": "external" } ], "mass": 69532.0, "length": 638, "protein_name": "E3 ubiquitin-protein ligase TRIM47", "gene_name": "TRIM47", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase TRIM47", "refseq_ac": [ { "id": "NP_258411", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_258411", "type": "external" } ], "gene_names_uniprotkb": "TRIM47; GOA; RNF100", "gene_names_refseq": "GOA; RNF100; TRIM47", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase TRIM47; 2.3.2.27; Gene overexpressed in astrocytoma protein; RING finger protein 100; Tripartite motif-containing protein 47", "protein_names_refseq": "E3 ubiquitin-protein ligase TRIM47; RING finger protein 100; gene overexpressed in astrocytoma protein; tripartite motif-containing protein 47", "tax_id": 9606, "disease": "", "pathway": " (hsa:91107)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "11237011;11511098;16964243;17081983;20068231;23186163;24129315;24275569;25576301;25645385;26873435;26992070;27583843;27862975;29291351;29314611;29557506;30779550;31154438;31844290;31848261;32157095;32161166;32357974;32502341;32938616;33298915;33968037;33981976;34433666;35051231;35251023;35580925;36203070;36215666;36288633;38614226;39331575", "class_list": "", "function": "E3 ubiquitin-protein ligase that mediates the ubiquitination and proteasomal degradation of CYLD., [UniProtKB, PubMed]; Study shows that protein and gene expression level of TRIM47 are up-regulated in prostate neoplasm., [RefSeq, PubMed]; TRIM47 activates NF-kappaB signaling via PKC-epsilon/PKD3 stabilization and contributes to endocrine therapy resistance in breast cancer., [RefSeq, PubMed]; TRIM47 promotes glioma angiogenesis by suppressing Smad4., [RefSeq, PubMed]; TRIM47 promotes ovarian cancer cell proliferation, migration, and invasion by activating STAT3 signaling. Publication Status: Online-Only, [RefSeq, PubMed]; TRIM47-CDO1 axis dictates hepatocellular carcinoma progression by modulating ferroptotic cell death through the ubiquitin-proteasome system., [RefSeq, PubMed]; These results suggest that rs1055129 in TRIM47 is not associated with leukoaraiosis (LA) risk in the Chinese population. However, the association of rs1055129 (TRIM47) with LA before Bonferroni correction and Sidak correction is worth highlighting., [RefSeq, PubMed]; White matter hyperintensity genetic risk factor TRIM47 regulates autophagy in brain endothelial 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": 3, "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": "Q96AD0;Q96GU5;Q9BRN7", "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:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005829 cytosol;GO:0098794 postsynapse", "go_biological_process": "GO:0016567 protein ubiquitination;GO:0150052 regulation of postsynapse assembly", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q96LD4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IVF5-1", "uniprot_id": [ { "id": "TIAM2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IVF5", "type": "external" } ], "mass": 190103.0, "length": 1701, "protein_name": "Rho guanine nucleotide exchange factor TIAM2", "gene_name": "TIAM2", "organism": "Human", "refseq_name": "rho guanine nucleotide exchange factor TIAM2 isoform b", "refseq_ac": [ { "id": "NP_001010927", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010927", "type": "external" } ], "gene_names_uniprotkb": "TIAM2; KIAA2016; STEF", "gene_names_refseq": "STEF; TIAM-2; TIAM2", "protein_names_uniprotkb": "Rho guanine nucleotide exchange factor TIAM2; SIF and TIAM1-like exchange factor; T-lymphoma invasion and metastasis-inducing protein 2; TIAM-2", "protein_names_refseq": "SIF and TIAM1-like exchange factor; T cell lymphoma invasion and metastasis 2; T-lymphoma invasion and metastasis-inducing protein 2; rho guanine nucleotide exchange factor TIAM2 isoform b; rho guanine nucleotide exchange factor TIAM2", "tax_id": 9606, "disease": "cataract 48 (Disease Ontology:DOID:0070354); neurodevelopmental disorder with language delay and seizures (Disease Ontology:DOID:0070444)", "pathway": " (hsa:26230); (R-HSA-193648); (R-HSA-1989781); (R-HSA-416482); (R-HSA-9013149)", "pathway_count": 5, "publication_count": 297, "publication_id_list": "10232922;10364228;10464238;10490598;10508610;10512681;10523665;10523675;10526156;10559246;10579713;10699171;10699464;10777541;10873802;10958683;11007481;11058585;11085924;11149925;11237011;11267664;11283606;11294240;11313914;11373293;11396949;11431473;11432776;11584276;11672528;11704860;11707441;11742120;11756498;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11900975;11912491;11961559;12071859;12093360;12096337;12097334;12101119;12118000;12123608;12177166;12195014;12221096;12351724;12432077;12433842;12505311;12515866;12531887;12546821;12547822;12582161;12650940;12665586;12857875;12877655;12923183;14512443;14514689;1464587;14673001;14675773;14718541;15023524;15033976;15064355;15067378;15107133;15130092;15133129;15147912;15302923;15339924;15342493;15470142;15485661;15507211;15579468;15601624;15611138;15635043;15699075;15728722;15749160;15850391;15858067;15897194;15951850;16002401;16112081;16116428;16184169;16212495;16243036;16380219;16473593;16492808;16507994;16519628;16636067;16702231;16762923;16777452;16777849;16862148;16896804;16914516;16923326;16968698;16972786;17077126;17145773;17196961;17214551;17244649;17583407;17599059;17702745;17765681;17804252;17976533;18006505;18045877;18218625;18249095;18347018;18374420;18396277;18426980;18540824;18577758;18653540;18719978;18838382;18848529;19088433;19212140;19269969;19494238;19605563;19664994;19673492;19710929;19713215;19934221;19934321;20110263;20400958;20460433;20679435;20810653;21148482;21542010;21565175;21613211;21730051;21865595;21989057;22004470;22096251;22298643;22407364;22475431;22608513;22661716;22734669;22970203;23209303;23255595;23288169;23434736;23572525;23707487;23718289;23940355;24086303;24196956;24259668;24335996;24352656;24859002;24933155;24960694;25024229;25211221;25414122;25428919;25576301;25704760;25721503;25795300;25862245;26129894;26529257;26811146;26887924;27072905;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27806292;28114311;28196833;28832583;28855257;29089502;29242379;29358323;29382922;29393594;29557506;29769354;30007591;30379171;30524438;30853411;31844290;31871319;32203420;32357974;32502341;32897882;32938616;33284659;33298915;33912179;33936100;33968037;34731623;34932366;35051231;36010968;37801065;38347632;7479768;7512369;7559638;7673236;7685352;7721814;7753201;7835339;7892212;7937899;8021274;8107774;8537347;8543060;8617235;8643598;8645157;8647822;8662891;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8990121;8994827;9012850;9013646;9099726;9113980;9305890;9308960;9438849;9490638;9497316;9520479;9582072;9659915;9670022;9748239;9792683;9796816;9822598;9843499;9988689", "class_list": "", "function": "Elevated TIAM2 expression promotes tumor progression and is associated with unfavorable prognosis in pancreatic cancer., [RefSeq, PubMed]; FARP1, ARHGEF39, and TIAM2 are essential receptor tyrosine kinase effectors for Rac1-dependent cell motility in human lung adenocarcinoma., [RefSeq, PubMed]; Modulates the activity of RHO-like proteins and connects extracellular signals to cytoskeletal activities. Acts as a GDP-dissociation stimulator protein that stimulates the GDP-GTP exchange activity of RHO-like GTPases and activates them. Mediates extracellular laminin signals to activate Rac1, contributing to neurite growth. Involved in lamellipodial formation and advancement of the growth cone of embryonic hippocampal neurons. Promotes migration of neurons in the cerebral cortex. When overexpressed, induces membrane ruffling accompanied by the accumulation of actin filaments along the altered plasma membrane (By similarity). Activates specifically RAC1, but not CDC42 and RHOA., [UniProtKB, PubMed]; Novel genetic markers for chronic kidney disease in a geographically isolated population of Indigenous Australians: Individual and multiple phenotype genome-wide association study. Publication Status: Online-Only, [RefSeq, PubMed]; STEF protein is a guanine nucleotide exchange factor that specifically activates Rac1 in vitro and in cultured cells, which may lead to changes in the actin cytoskeletal network., [RefSeq, PubMed]; Stef gene expressed in a stage- and region-specific manner in the mouse brain, [RefSeq, PubMed]; TIAM2S-positive microglia enhance inflammation and neurotoxicity through soluble ICAM-1-mediated immune priming., [RefSeq, PubMed]; This gene encodes a guanine nucleotide exchange factor. A highly similar mouse protein specifically activates ras-related C3 botulinum substrate 1, converting this Rho-like guanosine triphosphatase (GTPase) from a guanosine diphosphate-bound inactive state to a guanosine triphosphate-bound active state. The encoded protein may play a role in neural cell development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 52, "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": "B2RP56;C9JZV2;Q6NXN9;Q6ZUP9;Q9UFG6;Q9UKV9;Q9UKW0", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0030027 lamellipodium;GO:0030426 growth cone", "go_biological_process": "GO:0051056 regulation of small GTPase mediated signal transduction;GO:0007264 small GTPase-mediated signal transduction;GO:0050772 positive regulation of axonogenesis", "synthesized_glycan_count": 0, "hit_score": 30.0, "record_id": "Q8IVF5-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BZD7-1", "uniprot_id": [ { "id": "TMG3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BZD7", "type": "external" } ], "mass": 25875.0, "length": 231, "protein_name": "Transmembrane gamma-carboxyglutamic acid protein 3", "gene_name": "PRRG3", "organism": "Human", "refseq_name": "transmembrane gamma-carboxyglutamic acid protein 3 isoform 1", "refseq_ac": [ { "id": "NP_076987", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_076987", "type": "external" } ], "gene_names_uniprotkb": "PRRG3; PRGP3; TMG3", "gene_names_refseq": "PRGP3; PRRG3; TMG3", "protein_names_uniprotkb": "Transmembrane gamma-carboxyglutamic acid protein 3; Proline-rich Gla protein 3; Proline-rich gamma-carboxyglutamic acid protein 3", "protein_names_refseq": "proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane); proline-rich Gla protein 3; proline-rich gamma-carboxyglutamic acid protein 3; transmembrane gamma-carboxyglutamic acid protein 3 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:79057)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11171957;11237011", "class_list": "", "function": "This gene encodes a protein which contains a vitamin K-dependent carboxylation/gamma-carboxyglutamic domain. The encoded protein is a member of a family of vitamin K-dependent transmembrane proteins which contain a glutamate-rich extracellular domain. [provided by RefSeq, Aug 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A1A523;A1A575;Q8N2N6", "ec_number_list": [], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0016020 membrane;GO:0005576 extracellular region", "go_biological_process": "GO:0006508 proteolysis;GO:0007596 blood coagulation", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q9BZD7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UXN7-1", "uniprot_id": [ { "id": "TO20L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UXN7", "type": "external" } ], "mass": 17700.0, "length": 152, "protein_name": "TOMM20-like protein 1", "gene_name": "TOMM20L", "organism": "Human", "refseq_name": "TOMM20-like protein 1", "refseq_ac": [ { "id": "NP_997260", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997260", "type": "external" } ], "gene_names_uniprotkb": "TOMM20L; PRO34772", "gene_names_refseq": "TOMM20L; UNQ9438", "protein_names_uniprotkb": "TOMM20-like protein 1", "protein_names_refseq": "TOMM20-like protein 1; translocase of outer mitochondrial membrane 20 homolog type I; translocase of outer mitochondrial membrane 20 homolog-like", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:387990)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;12975309", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RPR0", "ec_number_list": [], "go_molecular_function": "GO:0030943 mitochondrion targeting sequence binding", "go_cellular_component": "GO:0005742 mitochondrial outer membrane translocase complex", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0006605 protein targeting;GO:0030150 protein import into mitochondrial matrix;GO:0016031 tRNA import into mitochondrion", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q6UXN7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13595-1", "uniprot_id": [ { "id": "TRA2A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13595", "type": "external" } ], "mass": 32689.0, "length": 282, "protein_name": "Transformer-2 protein homolog alpha", "gene_name": "TRA2A", "organism": "Human", "refseq_name": "transformer-2 protein homolog alpha isoform 2", "refseq_ac": [ { "id": "NP_001269686", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269686", "type": "external" } ], "gene_names_uniprotkb": "TRA2A", "gene_names_refseq": "AWMS1; HSU53209; TRA2A", "protein_names_uniprotkb": "Transformer-2 protein homolog alpha; TRA-2 alpha; TRA2-alpha; Transformer-2 protein homolog A", "protein_names_refseq": "TRA-2 alpha; TRA2-alpha; Tra2alpha; htra-2 alpha; putative MAPK activating protein PM24; transformer-2 alpha; transformer-2 protein homolog A; transformer-2 protein homolog alpha isoform 2; transformer-2 protein homolog alpha", "tax_id": 9606, "disease": "", "pathway": " (hsa:29896)", "pathway_count": 1, "publication_count": 53, "publication_id_list": "11237011;16964243;17081983;17322306;17924679;18212344;18452278;18669648;18707149;18767875;19007248;19369195;19413330;19651622;19664994;19664995;20068230;20068231;20166139;21406692;23186163;24714562;25418920;25880248;26929215;26992070;27869121;28411811;28649982;28904123;29493099;30429286;30779550;31217245;31530632;31844290;31848261;32157095;32372707;32897882;32983136;33214551;33592498;33968037;34019948;34932366;35051231;35561310;35580925;35635094;38665916;8799144;9546399", "class_list": "", "function": "Sequence-specific RNA-binding protein which participates in the control of pre-mRNA splicing., [UniProtKB, PubMed]; TRA2A-induced upregulation of LINC00662 regulates blood-brain barrier permeability by affecting ELK4 mRNA stability in Alzheimer's microenvironment., [RefSeq, PubMed]; This gene is a member of the transformer 2 homolog family and encodes a protein with several RRM (RNA recognition motif) domains. This phosphorylated nuclear protein binds to specific RNA sequences and plays a role in the regulation of pre-mRNA splicing. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]., [RefSeq]; Transformer 2 alpha homolog is a downstream gene of hypoxia-inducible factor 1 subunit alpha and is involved in the progression of pancreatic cancer., [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": 49, "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": "B4DQI6;B4DUA9;E9PD75", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005681 spliceosomal complex", "go_biological_process": "GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q13595-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96B42-1", "uniprot_id": [ { "id": "TMM18_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96B42", "type": "external" } ], "mass": 16265.0, "length": 140, "protein_name": "Transmembrane protein 18", "gene_name": "TMEM18", "organism": "Human", "refseq_name": "transmembrane protein 18 isoform 1", "refseq_ac": [ { "id": "NP_690047", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_690047", "type": "external" } ], "gene_names_uniprotkb": "TMEM18", "gene_names_refseq": "TMEM18; lncND", "protein_names_uniprotkb": "Transmembrane protein 18", "protein_names_refseq": "transmembrane protein 18 isoform 1", "tax_id": 9606, "disease": "abdominal obesity-metabolic syndrome 1 (Disease Ontology:DOID:14221); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:129787)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "11237011;18559506;19079261;19164386;19240061;21980424;25418920;25576301;26992070;27893789;28228285;28514659;28834231;28904123;29242379;29393594;29632046;30315122;31154438;31628562;31844290;32157095;32228543;32488085;33086065;33537174;33936100;33968037;33981976;35318648;35580925;36010968;36678137;37938771", "class_list": "", "function": "Association of the Variant rs7561317 Downstream of the TMEM18 Gene with Overweight/Obesity and Related Anthropometric Traits in a Sample of Pakistani Population., [RefSeq, PubMed]; Drinking Habits and Physical Activity Interact and Attenuate Obesity Predisposition of TMEM18 Polymorphisms Carriers. Publication Status: Online-Only, [RefSeq, PubMed]; Loci near TMEM18 (rs6548238), CDKAL1 (rs7754840), and FAIM2 (rs7138803) may be associated with obesity-related indicators, and loci near TMEM18 (rs6548238) and FAIM2 (rs7138803) may increase susceptibility of concurrent type 2 diabetes associated with obesity. Publication Status: Online-Only, [RefSeq, PubMed]; 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]; Overexpression of TMEM18 is associated with glioma, [RefSeq, PubMed]; The Obesity-Susceptibility Gene TMEM18 Promotes Adipogenesis through Activation of PPARG., [RefSeq, PubMed]; Transcription repressor. Sequence-specific ssDNA and dsDNA binding protein, with preference for GCT end CTG repeats. Cell migration modulator which enhances the glioma-specific migration ability of neural stem cells (NSC) and neural precursor cells (NPC)., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D6W4X9;Q8N5H2;Q9NTH3", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0031965 nuclear membrane", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0016477 cell migration", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q96B42-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94759-1", "uniprot_id": [ { "id": "TRPM2_HUMAN", "url": "https://www.uniprot.org/uniprot/O94759", "type": "external" } ], "mass": 171198.0, "length": 1503, "protein_name": "Transient receptor potential cation channel subfamily M member 2", "gene_name": "TRPM2", "organism": "Human", "refseq_name": "transient receptor potential cation channel subfamily M member 2 isoform 2", "refseq_ac": [ { "id": "NP_001307279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307279", "type": "external" } ], "gene_names_uniprotkb": "TRPM2; EREG1; KNP3; LTRPC2; TRPC7", "gene_names_refseq": "EREG1; KNP3; LTRPC2; LTrpC-2; NUDT9H; NUDT9L1; TRPC7; TRPM2", "protein_names_uniprotkb": "Transient receptor potential cation channel subfamily M member 2; Estrogen-responsive element-associated gene 1 protein; LTrpC-2; LTrpC2; Long transient receptor potential channel 2; Transient receptor potential channel 7; Transient receptor potential melastatin 2; TrpC7", "protein_names_refseq": "estrogen-responsive element-associated gene 1 protein; long transient receptor potential channel 2; transient receptor potential cation channel subfamily M member 2 isoform 2; transient receptor potential channel 7; transient receptor potential melastatin 2", "tax_id": 9606, "disease": "transient cerebral ischemia (Disease Ontology:DOID:224)", "pathway": " (hsa:7226); (R-HSA-3295583); (R-HSA-6798695)", "pathway_count": 3, "publication_count": 98, "publication_id_list": "10.1101/2023.09.13.557529;11050376;11226139;11237011;11243859;11301059;11385575;11509734;11804595;11960981;12015988;12594222;1422598;14634208;15561722;15708008;16601673;18491316;19171771;19454650;20025796;20650899;20660597;20716668;21209280;22493272;23650620;24366607;25389312;25418920;25562606;25576301;25620041;25765567;25855297;25892735;25918360;26154972;26992070;27068538;27383051;27600516;27846572;27893789;27920218;28218747;28228285;28467828;28775320;28832583;28834231;28904123;29242379;29393594;29437277;29508533;29557506;29632046;29745897;29769354;29786170;30315122;30410026;30429286;30467180;30524438;31513012;31844290;31848261;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33912179;33924946;33936100;34357683;34509645;34788616;35051231;35580925;37762313;37906101;38242853;38734586;39044361;8692836;9806837", "class_list": "", "function": "Endoplasmic Reticulum Stress-Related Ten-Biomarker Risk Classifier for Survival Evaluation in Epithelial Ovarian Cancer and TRPM2: A Potential Therapeutic Target of Ovarian Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Evolutionary trajectory of TRPM2 channel activation by adenosine diphosphate ribose and calcium., [RefSeq, PubMed]; Identification of Ligands for Ion Channels: TRPM2., [RefSeq, PubMed]; Lacks cation channel activity and negatively regulates the channel activity of isoform 1. Negatively regulates susceptibility to cell death in reposponse to oxidative stress., [UniProtKB, PubMed]; Lacks cation channel activity. Does not mediate cation transport in response to oxidative stress or ADP-ribose., [UniProtKB, PubMed]; Nonselective, voltage-independent cation channel that mediates Na(+) and Ca(2+) influx, leading to increased cytoplasmic Ca(2+) levels (PubMed:11385575, PubMed:11509734, PubMed:11804595, PubMed:12594222, PubMed:15561722, PubMed:16601673, PubMed:19171771, PubMed:20660597, PubMed:25620041, PubMed:27068538, PubMed:27383051, PubMed:28775320, PubMed:29745897, PubMed:30467180, PubMed:31513012, PubMed:34788616). Functions as a ligand-gated ion channel, gated by intracellular adenosine diphosphate ribose (ADP-ribose), Ca(2+), warm temperature, and oxidative stress (PubMed:19171771, PubMed:25620041, PubMed:28775320, PubMed:30467180). The precise physiological activators are under debate; the true, physiological activators may be ADP-ribose and ADP-ribose-2'-phosphate (PubMed:20650899, PubMed:25918360). Binding of ADP-ribose to the cytoplasmic Nudix domain causes a conformation change; the channel is primed but still requires Ca(2+) binding to trigger channel opening (PubMed:19171771, PubMed:25620041, PubMed:28775320, PubMed:29745897, PubMed:30467180). Extracellular Ca(2+) passes through the channel and increases channel activity (PubMed:19171771). Contributes to Ca(2+) release from intracellular stores in response to ADP-ribose (PubMed:19454650). Plays a role in numerous processes that involve signaling via intracellular Ca(2+) levels (Probable). Besides, mediates the release of lysosomal Zn(2+) stores in response to reactive oxygen species, leading to increased cytosolic Zn(2+) levels (PubMed:25562606, PubMed:27068538). Plays a role in mediating behavorial and physiological responses to moderate heat and thereby contributes to body temperature homeostasis. Plays a role in insulin secretion, a process that requires increased cytoplasmic Ca(2+) levels (By similarity). Required for normal IFNG and cytokine secretion and normal innate immune immunity in response to bacterial infection. Required for normal phagocytosis and cytokine release by macrophages exposed to zymosan (in vitro) (PubMed:22493272). Plays a role in dendritic cell differentiation and maturation, and in dendritic cell chemotaxis via its role in regulating cytoplasmic Ca(2+) levels (By similarity). Plays a role in the regulation of the reorganization of the actin cytoskeleton and filopodia formation in response to reactive oxygen species via its role in increasing cytoplasmic Ca(2+) and Zn(2+) levels (PubMed:27068538). Confers susceptibility to cell death following oxidative stress (PubMed:12594222, PubMed:25562606)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; TRPM2-L Participates in the Interleukin-6 Pathway to Enhance Tumor Growth in Prostate Cancer by Hypoxia-Inducible Factor-1alpha., [RefSeq, PubMed]; Targeting Transient Receptor Potential Melastatin-2 (TRPM2) Enhances Therapeutic Efficacy of Third Generation EGFR Inhibitors against EGFR Mutant Lung Cancer., [RefSeq, PubMed]; The protein encoded by this gene forms a tetrameric cation channel that is permeable to calcium, sodium, and potassium and is regulated by free intracellular ADP-ribose. The encoded protein is activated by oxidative stress and confers susceptibility to cell death. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. Additional transcript variants of this gene have been described, but their full-length nature is not known. [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": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 39, "reported_glycation": 0, "reported_snv": 40, "reported_interactions": 0, "missing_score": 9671, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DSL6;Q5KTC2;Q6J3P5;Q96KN6;Q96Q93", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0005262 calcium channel activity;GO:0005509 calcium ion binding;GO:0005261 monoatomic cation channel activity;GO:0005272 sodium channel activity;GO:0015278 intracellularly gated calcium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0035579 specific granule membrane;GO:0043204 perikaryon;GO:0070821 tertiary granule membrane;GO:0005764 lysosome", "go_biological_process": "GO:0071577 zinc ion transmembrane transport;GO:0001659 temperature homeostasis;GO:0014074 response to purine-containing compound;GO:0032956 regulation of actin cytoskeleton organization;GO:0051289 protein homotetramerization", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "O94759-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P59282-1", "uniprot_id": [ { "id": "TPPP2_HUMAN", "url": "https://www.uniprot.org/uniprot/P59282", "type": "external" } ], "mass": 18503.0, "length": 170, "protein_name": "Tubulin polymerization-promoting protein family member 2", "gene_name": "TPPP2", "organism": "Human", "refseq_name": "tubulin polymerization-promoting protein family member 2", "refseq_ac": [ { "id": "NP_776245", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_776245", "type": "external" } ], "gene_names_uniprotkb": "TPPP2; C14orf8", "gene_names_refseq": "C14orf8; CT152; P18; TPPP/p18; TPPP2; p25beta", "protein_names_uniprotkb": "Tubulin polymerization-promoting protein family member 2; Protein p25-beta; TPPP/p18", "protein_names_refseq": "protein p25-beta; tubulin polymerization-promoting protein family member 2", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:122664)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;17105200;23436708;30680919", "class_list": "", "function": "Probable regulator of microtubule dynamics required for sperm motility (Probable). In contrast to other members of the family, has no microtubule bundling activity (PubMed:17105200)., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q2VYF3", "ec_number_list": [], "go_molecular_function": "GO:0015631 tubulin binding", "go_cellular_component": "GO:0005829 cytosol;GO:0036126 sperm flagellum;GO:0005737 cytoplasm", "go_biological_process": "GO:0046785 microtubule polymerization;GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0032273 positive regulation of protein polymerization;GO:1901317 regulation of flagellated sperm motility", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "P59282-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q969Z4-1", "uniprot_id": [ { "id": "TR19L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q969Z4", "type": "external" } ], "mass": 46092.0, "length": 430, "protein_name": "Tumor necrosis factor receptor superfamily member 19L", "gene_name": "RELT", "organism": "Human", "refseq_name": "tumor necrosis factor receptor superfamily member 19L isoform 1 precursor", "refseq_ac": [ { "id": "NP_116260", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_116260", "type": "external" } ], "gene_names_uniprotkb": "RELT; TNFRSF19L", "gene_names_refseq": "AI3C; RELT; TNFRSF19L; TRLT", "protein_names_uniprotkb": "Tumor necrosis factor receptor superfamily member 19L; Receptor expressed in lymphoid tissues", "protein_names_refseq": "RELT tumor necrosis factor receptor; receptor expressed in lymphoid tissues; tumor necrosis factor receptor superfamily member 19L isoform 1 precursor", "tax_id": 9606, "disease": "amelogenesis imperfecta type 3C (Disease Ontology:DOID:0111722)", "pathway": " (hsa:84957)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "11237011;11313261;15340161;16389068;16530727;18491316;19969290;22052202;23186163;26992070;28467828;28688764;29242379;29317506;29508533;29632046;29786170;30506946;31844290;32052416;32350084;32502341;32983136;33592498;33912179;33936100;33968037;34121605;34357683;34932366;35051231;35251023", "class_list": "", "function": "Collectively, this study provides more insights into RELT expression, RELT family member function, and the mechanism of RELT-induced death., [RefSeq, PubMed]; May play a role in apoptosis (PubMed:19969290, PubMed:28688764). Induces activation of MAPK14/p38 and MAPK8/JNK MAPK cascades, when overexpressed (PubMed:16530727). Involved in dental enamel formation (PubMed:30506946)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; May play a role in apoptosis. Induces activation of MAPK14/p38 and MAPK8/JNK MAPK cascades, when overexpressed. Involved in dental enamel formation., [UniProtKB, UniProtKB, UniProtKB]; New missense variants in RELT causing hypomineralised amelogenesis imperfecta., [RefSeq, PubMed]; RELT promotes the growth of esophageal squamous cell carcinoma by activating the NF-kappaB pathway., [RefSeq, PubMed]; Receptor expressed in lymphoid tissue (RELT) and its novel homologues RELL1 and RELL2 co-localize with one another at the plasma membrane., [RefSeq, PubMed]; The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is especially abundant in hematologic tissues. It has been shown to activate the NF-kappaB pathway and selectively bind TNF receptor-associated factor 1 (TRAF1). This receptor is capable of stimulating T-cell proliferation in the presence of CD3 signaling, which suggests its regulatory role in immune response. Two alternatively spliced transcript variants of this gene encoding the same protein have been reported. [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": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q86V34;Q96JU1;Q9BUX7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0006915 apoptotic process;GO:0097186 amelogenesis", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q969Z4-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UJW2-1", "uniprot_id": [ { "id": "TINAG_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UJW2", "type": "external" } ], "mass": 54605.0, "length": 476, "protein_name": "Tubulointerstitial nephritis antigen", "gene_name": "TINAG", "organism": "Human", "refseq_name": "tubulointerstitial nephritis antigen", "refseq_ac": [ { "id": "NP_055279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055279", "type": "external" } ], "gene_names_uniprotkb": "TINAG", "gene_names_refseq": "TIN-AG; TINAG", "protein_names_uniprotkb": "Tubulointerstitial nephritis antigen; TIN-Ag", "protein_names_refseq": "tubulointerstitial nephritis antigen", "tax_id": 9606, "disease": "", "pathway": " (hsa:27283)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "10.1101/2023.09.13.557529;10652240;10752525;11237011;1466368;1762287;20157734;28832583;29242379;29557506;30459171;31981812;3553704;37074911;8770961;9643646", "class_list": "", "function": "An hTIN-ag defect may be a potent cause of end-stage renal failure in childhood., [RefSeq, PubMed]; Mediates adhesion of proximal tubule epithelial cells via integrins alpha3-beta1 and alphaV-beta3. This is a non catalytic peptidase C1 family protein., [UniProtKB, PubMed]; TINAG mutation as a genetic cause of pectus excavatum., [RefSeq, PubMed]; This gene encodes a glycoprotein that is restricted within the kidney to the basement membranes underlying the epithelium of Bowman's capsule and proximal and distal tubules. Autoantibodies against this protein are found in sera of patients with tubulointerstital nephritis, membranous nephropathy and anti-glomerular basement membrane nephritis. Ontogeny studies suggest that the expression of this antigen is developmentally regulated in a precise spatial and temporal pattern throughout nephrogenesis. [provided by RefSeq, Nov 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": 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": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 36, "reported_interactions": 0, "missing_score": 3939, "biomarker_type": "", "glycan_count": 47, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q5T467;Q9UJW1;Q9ULZ4", "ec_number_list": [], "go_molecular_function": "GO:0000166 nucleotide binding;GO:0004197 cysteine-type endopeptidase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005764 lysosome;GO:0005604 basement membrane", "go_biological_process": "GO:0006508 proteolysis;GO:0007155 cell adhesion", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q9UJW2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BX73-1", "uniprot_id": [ { "id": "TM2D2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BX73", "type": "external" } ], "mass": 22871.0, "length": 214, "protein_name": "TM2 domain-containing protein 2", "gene_name": "TM2D2", "organism": "Human", "refseq_name": "TM2 domain-containing protein 2 isoform b precursor", "refseq_ac": [ { "id": "NP_001019551", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019551", "type": "external" } ], "gene_names_uniprotkb": "TM2D2; BLP1", "gene_names_refseq": "BLP1; TM2D2", "protein_names_uniprotkb": "TM2 domain-containing protein 2; BBP-like protein 1; Beta-amyloid-binding protein-like protein 1", "protein_names_refseq": "BBP-like protein 1; TM2 domain-containing protein 2 isoform b precursor; TM2 domain-containing protein 2; beta-amyloid-binding protein-like protein 1", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652)", "pathway": " (hsa:83877)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "10.1074/mcp.M114.046862;11237011;11278849;25576301;25645385;25813380;25892735;28649982;28832583;28904123;29242379;29557506;29769354;30833945;31154438;31217245;31530632;31844290;32938616;33592498;33936100;33968037;34087483;34171305;34433824;35580925;36581221;37938771;39894887", "class_list": "", "function": "The protein encoded by this gene contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily. This protein has sequence and structural similarities to the beta-amyloid binding protein (BBP), but, unlike BBP, it does not regulate a response to beta-amyloid peptide. This protein may have regulatory roles in cell death or proliferation signal cascades. This gene has multiple alternatively spliced transcript variants which encode two different isoforms. [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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "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": "B2RBK4;D3DSX8;Q8N0X9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q9BX73-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0V1-1", "uniprot_id": [ { "id": "TM168_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0V1", "type": "external" } ], "mass": 79755.0, "length": 697, "protein_name": "Transmembrane protein 168", "gene_name": "TMEM168", "organism": "Human", "refseq_name": "transmembrane protein 168", "refseq_ac": [ { "id": "NP_001274426", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274426", "type": "external" } ], "gene_names_uniprotkb": "TMEM168", "gene_names_refseq": "TMEM168", "protein_names_uniprotkb": "Transmembrane protein 168", "protein_names_refseq": "transmembrane protein 168", "tax_id": 9606, "disease": "", "pathway": " (hsa:64418)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "11230166;11237011;19240061;25576301;25892735;27600516;28218747;28228285;28467828;28514659;28904123;29242379;29314611;29393594;29437277;29557506;29769354;30573663;30940290;31154438;31217245;31611695;31844290;32157095;32175648;32350084;32357974;32387766;32502341;33043033;33392160;33912179;33981976;34086898;34357683;34932366;35051231;36215666", "class_list": "", "function": "Data suggested that siRNA-TMEM168 (siTMEM168) prevented viability of U87 and U373 cells, induced cell cycle arrest (G0/G1 phase) and promoted apoptosis, and the mechanisms involved in blocking Wnt/beta-catenin pathway, as evidenced by reducing expression of beta-catenin, C-myc, cyclin D1, and survivin., [RefSeq, PubMed]; Identification of transmembrane protein 168 mutation in familial Brugada syndrome., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Plays a key role in maintaining the cardiac electrical stability by modulating cell surface expression of SCN5A (PubMed:32175648). May play a role in the modulation of anxiety behavior by regulating GABAergic neuronal system in the nucleus accumbens (By similarity)., [UniProtKB, PubMed, UniProtKB]; Transmembrane protein 168 mutation reduces cardiomyocyte cell surface expression of Nav1.5 through alphaB-crystallin intracellular dynamics. Erratum:[J Biochem. 2022 Mar 31;171(4):467. doi: 10.1093/jb/mvab152. PMID: 35137094], [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": 21, "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": "A4D0T9;B4DDS0;Q8NEK4;Q9H8J2", "ec_number_list": [], "go_molecular_function": "GO:0017080 sodium channel regulator activity", "go_cellular_component": "GO:0031965 nuclear membrane;GO:0030133 transport vesicle", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q9H0V1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P03986-1", "uniprot_id": [ { "id": "TRGC2_HUMAN", "url": "https://www.uniprot.org/uniprot/P03986", "type": "external" } ], "mass": 21698.0, "length": 189, "protein_name": "T cell receptor gamma constant 2", "gene_name": "TRGC2", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRGC2; TCRGC2", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor gamma constant 2", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 11, "publication_id_list": "11237011;11459064;23348415;24387714;24600447;25674089;2879283;28920588;3458221;35051231;35251023", "class_list": "", "function": "Constant region of T cell receptor (TR) gamma chain that participates in the antigen recognition (PubMed:24600447). Gamma-delta TRs recognize a variety of self and foreign non-peptide antigens frequently expressed at the epithelial boundaries between the host and external environment, including endogenous lipids presented by MH-like protein CD1D and phosphoantigens presented by butyrophilin-like molecule BTN3A1. Upon antigen recognition induces rapid, innate-like immune responses involved in pathogen clearance and tissue repair (PubMed:23348415, PubMed:28920588). Binding of gamma-delta TR complex to antigen triggers phosphorylation of immunoreceptor tyrosine-based activation motifs (ITAMs) in the CD3 chains by the LCK and FYN kinases, allowing the recruitment, phosphorylation, and activation of ZAP70 that facilitates phosphorylation of the scaffolding proteins LCP2 and LAT. This lead to the formation of a supramolecular signalosome that recruits the phospholipase PLCG1, resulting in calcium mobilization and ERK activation, ultimately leading to T cell expansion and differentiation into effector cells (PubMed:25674089). Gamma-delta TRs are produced through somatic rearrangement of a limited repertoire of variable (V), diversity (D), and joining (J) genes. The potential diversity of gamma-delta TRs is conferred by the unique ability to rearrange (D) genes in tandem and to utilize all three reading frames. The combinatorial diversity is considerably increased by the sequence exonuclease trimming and random nucleotide (N) region additions which occur during the V-(D)-J rearrangements (PubMed:24387714)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 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": 18, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A0A075B6R6", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0042101 T cell receptor complex", "go_biological_process": "GO:0006955 immune response;GO:0050852 T cell receptor signaling pathway;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "P03986-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14142-1", "uniprot_id": [ { "id": "TRI14_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14142", "type": "external" } ], "mass": 49773.0, "length": 442, "protein_name": "Tripartite motif-containing protein 14", "gene_name": "TRIM14", "organism": "Human", "refseq_name": "tripartite motif-containing protein 14", "refseq_ac": [ { "id": "NP_055603", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055603", "type": "external" } ], "gene_names_uniprotkb": "TRIM14; KIAA0129", "gene_names_refseq": "TRIM14", "protein_names_uniprotkb": "Tripartite motif-containing protein 14", "protein_names_refseq": "tripartite motif protein TRIM14; tripartite motif-containing protein 14", "tax_id": 9606, "disease": "", "pathway": " (hsa:9830); (R-HSA-877300)", "pathway_count": 2, "publication_count": 103, "publication_id_list": "10067896;10986460;11237011;11331580;11972023;12040185;12438563;12446674;12915721;1396683;14586410;14722222;1508672;15143187;15322115;15388922;15530433;16237089;16467876;17125875;18362138;18591661;20049711;20130243;20304997;20363976;22711689;23061660;23481700;24379373;24417533;24714562;24715725;25418920;26154972;26375851;26728094;26992070;27578425;27666593;27846572;27920218;28218747;28228285;28476934;28832583;28834231;28904123;29053956;29242379;29317506;29393594;29437277;29493099;29508533;29557506;29786170;30150992;30315122;30410026;30524438;31844290;32350084;32357974;32387766;32404352;32502341;32938616;32983136;33141586;33239784;33298915;33392160;33717175;33936100;34087483;34932366;35051231;35145029;35580925;36284347;37562033;37628777;38267812;38697463;38816350;7510216;7514165;7530745;7615558;7617032;7657660;7673114;7690989;7796299;8156998;8176225;8483949;8530158;8550631;8631301;9111318;9143706", "class_list": "", "function": "Circ_RPPH1 facilitates progression of breast cancer via miR-1296-5p/TRIM14 axis., [RefSeq, PubMed]; Plays an essential role in the innate immune defense against viruses and bacteria (PubMed:30150992, PubMed:32404352). Promotes the 'Lys-48'-linked ubiquitination and subsequent degradation of hepatitis C virus NS5A leading to the inhibition of viral replication (PubMed:27578425). Also plays a role in the inhibition of ebolavirus infection by enhancing IFN-beta and NF-kappa-B activation after binding to the viral protein NP (PubMed:37562033). Facilitates the type I IFN response by interacting with MAVS at the outer mitochondria membrane and thereby recruiting NF-kappa-B essential modulator IKBKG/NEMO to the MAVS signalosome, leading to the activation of both the IFN regulatory factor 3/IRF3 and NF-kappa-B pathways (PubMed:24379373). Positively regulates the CGAS-induced type I interferon signaling pathway by stabilizing CGAS and inhibiting its autophagic degradation (PubMed:27666593). Acts as a scaffold between TBK1 and STAT3 to promote phosphorylation of STAT3 and resolve interferon-stimulated gene (ISG) expression (PubMed:32404352). Inhibits the transcriptional activity of SPI1 in a dose-dependent manner (By similarity). Also inhibits OPTN-mediated selective autophagic degradation of KDM4D and thereby negatively regulates H3K9me2 and H3K9me3. Mechanistically, recruits USP14 to remove the 'Lys-63'-linked ubiquitination of KDM4D, preventing its recognition by OPTN and subsequent degradation (PubMed:35145029)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; TRIM14 Overexpression Induces Chemoresistance and Malignant Behaviors of Hepatocellular Carcinoma Cells by Activating the STAT3/HIF-1alpha Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; TRIM14 suppressed the progression of NSCLC via hexosamine biosynthesis pathway., [RefSeq, PubMed]; The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies and its function has not been determined. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]., [RefSeq]; Trim14-IkappaBalpha Signaling Regulates Chronic Inflammatory Pain in Rats and Osteoarthritis 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": 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": "A8K9W0;E7EQC4;F8W956;Q548W9;Q5TBQ8;Q6ZWL7;Q9BRD8;Q9C020", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0003713 transcription coactivator activity;GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005741 mitochondrial outer membrane;GO:0045335 phagocytic vesicle", "go_biological_process": "GO:0032897 negative regulation of viral transcription;GO:0006954 inflammatory response;GO:0045087 innate immune response", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "Q14142-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q03169-1", "uniprot_id": [ { "id": "TNAP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q03169", "type": "external" } ], "mass": 72661.0, "length": 654, "protein_name": "Tumor necrosis factor alpha-induced protein 2", "gene_name": "TNFAIP2", "organism": "Human", "refseq_name": "tumor necrosis factor alpha-induced protein 2 isoform 1", "refseq_ac": [ { "id": "NP_006282", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006282", "type": "external" } ], "gene_names_uniprotkb": "TNFAIP2", "gene_names_refseq": "B94; EXOC3L3; TNFAIP2", "protein_names_uniprotkb": "Tumor necrosis factor alpha-induced protein 2; Primary response gene B94 protein; TNF alpha-induced protein 2", "protein_names_refseq": "exocyst complex component 3-like 3; primary response gene B94 protein; tumor necrosis factor alpha-induced protein 2 isoform 1; tumor necrosis factor, alpha induced protein 2", "tax_id": 9606, "disease": "focal segmental glomerulosclerosis (Disease Ontology:DOID:1312)", "pathway": " (hsa:7127)", "pathway_count": 1, "publication_count": 69, "publication_id_list": "11237011;1374453;19339270;19913121;22645359;24715725;25418920;25505266;25576301;26024233;26154972;26811146;26992070;27543614;27862975;27920218;28063628;28228285;28514659;28649982;28832583;28860189;28904123;29242379;29331515;29393594;29493099;29557506;29632046;29786170;30315122;30410026;30429286;30779550;31217245;31373491;31844290;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33123756;33298915;33592498;33633747;33717175;33912179;33936100;33968037;33981976;34087483;34112215;34171305;34185709;34509645;34561969;34932366;35051231;35580925;36010968;36215666;36241641;36243694;36284347;37525222;38271140", "class_list": "", "function": "May play a role as a mediator of inflammation and angiogenesis., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Pan-cancer analysis of oncogenic TNFAIP2 identifying its prognostic value and immunological function in acute myeloid leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; STAT1 epigenetically regulates LCP2 and TNFAIP2 by recruiting EP300 to contribute to the pathogenesis of inflammatory bowel disease. Publication Status: Online-Only, [RefSeq, PubMed]; TNFAIP2 confers cisplatin resistance in head and neck squamous cell carcinoma via KEAP1/NRF2 signaling. Publication Status: Online-Only, [RefSeq, PubMed]; The miR-146b-3p/TNFAIP2 axis regulates cell differentiation in acute myeloid leukaemia., [RefSeq, PubMed]; This gene was identified as a gene whose expression can be induced by the tumor necrosis factor alpha (TNF) in umbilical vein endothelial cells. The expression of this gene was shown to be induced by retinoic acid in a cell line expressing a oncogenic version of the retinoic acid receptor alpha fusion protein, which suggested that this gene may be a retinoic acid target gene in acute promyelocytic leukemia. [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": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q86VI0", "ec_number_list": [], "go_molecular_function": "GO:0000149 SNARE binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0000145 exocyst", "go_biological_process": "GO:0051601 exocyst localization;GO:0001525 angiogenesis;GO:0030154 cell differentiation;GO:0006887 exocytosis", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q03169-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z2V1-1", "uniprot_id": [ { "id": "TNT_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z2V1", "type": "external" } ], "mass": 23111.0, "length": 217, "protein_name": "Protein TNT", "gene_name": "C16orf82", "organism": "Human", "refseq_name": "protein TNT", "refseq_ac": [ { "id": "NP_001139017", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139017", "type": "external" } ], "gene_names_uniprotkb": "C16orf82", "gene_names_refseq": "C16orf82; TNT", "protein_names_uniprotkb": "Protein TNT", "protein_names_refseq": "protein TNT", "tax_id": 9606, "disease": "", "pathway": " (hsa:162083)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;31154438;31222486;33592498", "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": "B9EGC2;Q8NEF0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q7Z2V1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q70CQ2-1", "uniprot_id": [ { "id": "UBP34_HUMAN", "url": "https://www.uniprot.org/uniprot/Q70CQ2", "type": "external" } ], "mass": 404233.0, "length": 3546, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 34", "gene_name": "USP34", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 34", "refseq_ac": [ { "id": "NP_055524", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055524", "type": "external" } ], "gene_names_uniprotkb": "USP34; KIAA0570; KIAA0729", "gene_names_refseq": "USP34", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 34; 3.4.19.12; Deubiquitinating enzyme 34; Ubiquitin thioesterase 34; Ubiquitin-specific-processing protease 34", "protein_names_refseq": "deubiquitinating enzyme 34; ubiquitin carboxyl-terminal hydrolase 34; ubiquitin specific protease 34; ubiquitin thioesterase 34; ubiquitin thiolesterase 34; ubiquitin-specific-processing protease 34", "tax_id": 9606, "disease": "", "pathway": " (hsa:9736); (R-HSA-201681); (R-HSA-5689880)", "pathway_count": 3, "publication_count": 186, "publication_id_list": "10198061;10444327;10982817;11029007;11237011;11357136;11448771;11493532;11566882;11923872;12205098;12223464;12917689;12917691;14636582;14661020;14715245;14981260;15053880;15084453;15208637;15345747;15454084;15459103;15916963;16116452;16214042;16280981;16554443;16723543;16901786;16964248;16971168;17234765;17290220;17443180;17525332;17873522;17980597;17981138;18077418;18077588;18172164;18423204;18452278;18467330;18632802;18636086;18669648;19000841;19015242;19135894;19188362;19363159;19398555;19424180;19619488;19651622;19690332;19838211;19874889;19910467;20004982;20068231;20096447;20228808;20368735;20501646;21239494;21362556;21383061;21571647;21596315;21659512;21849505;21875946;21962518;22000856;22014570;22029577;22085928;22128162;22216260;22299025;22411803;22544926;22653731;22773843;23159851;23186163;23256519;23395819;23481700;23486064;23791946;23824326;23825189;24056413;24260525;24275569;24493797;24715725;24896179;25197364;25305019;25576301;25578727;25645385;25892735;26154972;26375851;26992070;27846572;27862975;27920218;28218747;28228285;28649982;28832583;28834231;28904123;29242379;29437277;29493099;29508533;29557506;29632711;29769354;29786170;30315122;30379171;30410026;30429286;30524438;30585151;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32783291;32897882;32938616;32983136;33298915;33537174;33592498;33691108;33912179;33968037;33981976;34087483;34171305;34185709;34405274;34433824;34509645;34561969;34932366;35051231;35318648;35494241;35561310;35580925;35588869;36010968;36215666;36241641;36284347;37217939;37865315;37938771;38167292;7578059;9135132;9391096;9501980", "class_list": "", "function": "An siRNA library screen identifies CYLD and USP34 as deubiquitinases that regulate GPCR-p38 MAPK signaling and distinct inflammatory responses., [RefSeq, PubMed]; Axin associates with ubiquitin-specific protease 34 (USP34); results indicate USP34 controls the levels of axin and positively modulate Wnt signaling by acting downstream of beta-catenin stabilization through controlling the nuclear accumulation of axin, [RefSeq, PubMed]; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes., [UniProtKB, UniProtKB]; Stabilization of Pin1 by USP34 promotes Ubc9 isomerization and protein sumoylation in glioma stem cells. Publication Status: Online-Only, [RefSeq, PubMed]; Structural Insights into the Catalytic Mechanism and Ubiquitin Recognition of USP34., [RefSeq, PubMed]; The deubiquitinase USP34 stabilizes SOX2 and induces cell survival and drug resistance in laryngeal squamous cell carcinoma., [RefSeq, PubMed]; The study unveils a previously unknown function of USP34 in regulating the metabolic stability of gp78., [RefSeq, PubMed]; Ubiquitin hydrolase that can remove conjugated ubiquitin from AXIN1 and AXIN2, thereby acting as a regulator of Wnt signaling pathway. Acts as an activator of the Wnt signaling pathway downstream of the beta-catenin destruction complex by deubiquitinating and stabilizing AXIN1 and AXIN2, leading to promote nuclear accumulation of AXIN1 and AXIN2 and positively regulate beta-catenin (CTNBB1)-mediated transcription. Recognizes and hydrolyzes the peptide bond at the C-terminal Gly of ubiquitin. Involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins., [UniProtKB, PubMed, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 32, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 80, "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": "A8MWD0;B3KWU9;O60316;O94834;Q3B777;Q6P6C9;Q7L8P6;Q8N3T9;Q8TBW2;Q9UGA1", "ec_number_list": [ { "id": "2.4.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.-", "type": "external" }, { "id": "2.4.2.30", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.30", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" } ], "go_molecular_function": "GO:0004197 cysteine-type endopeptidase activity;GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0031647 regulation of protein stability;GO:0016055 Wnt signaling pathway;GO:0090263 positive regulation of canonical Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 19.0, "record_id": "Q70CQ2-1", "record_type": "protein", "filter_code": "0000000.1100101.001000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O96008-1", "uniprot_id": [ { "id": "TOM40_HUMAN", "url": "https://www.uniprot.org/uniprot/O96008", "type": "external" } ], "mass": 37893.0, "length": 361, "protein_name": "Mitochondrial import receptor subunit TOM40 homolog", "gene_name": "TOMM40", "organism": "Human", "refseq_name": "mitochondrial import receptor subunit TOM40 homolog", "refseq_ac": [ { "id": "NP_001122388", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122388", "type": "external" } ], "gene_names_uniprotkb": "TOMM40; C19orf1; PEREC1; TOM40", "gene_names_refseq": "C19orf1; D19S1177E; PER-EC1; PEREC1; TOM40; TOMM40", "protein_names_uniprotkb": "Mitochondrial import receptor subunit TOM40 homolog; Protein Haymaker; Translocase of outer membrane 40 kDa subunit homolog; p38.5", "protein_names_refseq": "mitochondrial import receptor subunit TOM40 homolog; mitochondrial outer membrane protein; p38.5; protein Haymaker; translocase of outer membrane 40 kDa subunit homolog; translocase of outer mitochondrial membrane 40 homolog", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); neurodegenerative disease (Disease Ontology:DOID:1289); cerebral infarction (Disease Ontology:DOID:3526)", "pathway": " (hsa:10452); (R-HSA-1268020); (R-HSA-5205685)", "pathway_count": 3, "publication_count": 113, "publication_id_list": "10520737;11237011;11745481;12198123;14726512;15254020;15644312;15683237;16185709;16849325;17510655;18174896;18331822;18678864;19409522;19432818;19453276;19767391;19962426;20068231;20126261;20593814;20712405;21115803;21194381;21617041;21750375;22419819;23041349;23301498;23481700;23597483;23811401;24660806;24751536;24784582;25315652;25418920;25474007;25502872;25527497;26116755;26365381;26375851;26697887;26992070;27035970;27247382;27452731;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29394115;29557506;29786170;29995846;30315122;30429286;30484775;30524438;30779550;31206022;31530632;31611695;31844290;31848261;32157095;32296703;32350084;32387766;32488085;32897882;32938616;32983136;33141586;33298915;33465208;33592498;33691108;33912179;33936100;33968037;34229054;34357683;34725712;34932366;35051231;35083852;35138101;35154160;35251023;35318648;35561310;35580925;36215666;36241641;36284347;36835494;37718796;37804609;37874111;37938771;38287189;38665916;38978225;40080546;40596516;40914422", "class_list": "", "function": "Alzheimer's disease cortical morphological phenotypes are associated with TOMM40'523-APOE haplotypes., [RefSeq, PubMed]; BRG1 promotes liver cancer cell proliferation and metastasis by enhancing mitochondrial function and ATP5A1 synthesis through TOMM40., [RefSeq, PubMed]; Channel-forming protein that forms part of the translocase of the outer mitochondrial membrane (TOM) complex essential for the recognition and translocation of cytosolically synthesized mitochondrial preproteins (PubMed:15644312, PubMed:31206022, PubMed:40080546). The TOM complex associates with the ion channel VDAC2 and PINK1 kinase at depolarized mitochondria, this interaction stabilizes PINK1 at the outer mitochondrial membrane and triggers downstream mitophagy by the recruitment of the E3 ubiquitin ligase PRKN (PubMed:40080546). Plays a role in the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) by forming a complex with BCAP31 and mediating the translocation of Complex I components from the cytosol to the mitochondria (PubMed:31206022)., [UniProtKB, PubMed, PubMed, PubMed]; Genotypic Effects of the TOMM40'523 Variant and APOE on Longitudinal Cognitive Change over 4 Years: The TOMMORROW Study., [RefSeq, PubMed]; TOMM40 '523 Genotype Distinguishes Patterns of Cognitive Improvement for Executive Function in APOEvarepsilon3 Homozygotes., [RefSeq, PubMed]; TOMM40 Genetic Variants Cause Neuroinflammation in Alzheimer's Disease. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is localized in the outer membrane of the mitochondria. It is the channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM) complex that is essential for import of protein precursors into mitochondria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A0A024R0P9;Q86VW4;Q8WY09;Q8WY10;Q8WY11;Q9BR95", "ec_number_list": [], "go_molecular_function": "GO:0015288 porin activity;GO:0008320 protein transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005743 mitochondrial inner membrane;GO:0016020 membrane;GO:0044233 mitochondria-associated endoplasmic reticulum membrane contact site", "go_biological_process": "GO:0045040 protein insertion into mitochondrial outer membrane;GO:0006811 monoatomic ion transport;GO:0006626 protein targeting to mitochondrion;GO:0030150 protein import into mitochondrial matrix", "synthesized_glycan_count": 0, "hit_score": 11.7, "record_id": "O96008-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96AN5-1", "uniprot_id": [ { "id": "TM143_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96AN5", "type": "external" } ], "mass": 51715.0, "length": 459, "protein_name": "Transmembrane protein 143", "gene_name": "TMEM143", "organism": "Human", "refseq_name": "transmembrane protein 143 isoform d", "refseq_ac": [ { "id": "NP_001290469", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290469", "type": "external" } ], "gene_names_uniprotkb": "TMEM143; PRO19813", "gene_names_refseq": "TMEM143", "protein_names_uniprotkb": "Transmembrane protein 143", "protein_names_refseq": "transmembrane protein 143 isoform d", "tax_id": 9606, "disease": "", "pathway": " (hsa:55260)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;12975309;19913121;20628086;20877624;25505266;27920218;28904123;29769354;31844290;32357974;32387766;35051231", "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]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A8K656;Q6UXY4;Q9NV49", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q96AN5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P57727-1", "uniprot_id": [ { "id": "TMPS3_HUMAN", "url": "https://www.uniprot.org/uniprot/P57727", "type": "external" } ], "mass": 49405.0, "length": 454, "protein_name": "Transmembrane protease serine 3", "gene_name": "TMPRSS3", "organism": "Human", "refseq_name": "transmembrane protease serine 3 isoform 4", "refseq_ac": [ { "id": "NP_001243246", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243246", "type": "external" } ], "gene_names_uniprotkb": "TMPRSS3; ECHOS1; PRO382; TADG12", "gene_names_refseq": "DFNB10; DFNB8; ECHOS1; TADG12; TMPRSS3", "protein_names_uniprotkb": "Transmembrane protease serine 3; 3.4.21.-; Serine protease TADG-12; Tumor-associated differentially-expressed gene 12 protein", "protein_names_refseq": "serine protease TADG-12; transmembrane protease serine 3 isoform 4; transmembrane protease, serine 3; tumor-associated differentially-expressed gene 12 protein", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness 8 (Disease Ontology:DOID:0110527); sensorineural hearing loss (Disease Ontology:DOID:10003); pancreatic ductal carcinoma (Disease Ontology:DOID:3587)", "pathway": " (hsa:64699)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11068177;11137999;11237011;11424922;11462234;11907649;12393794;12975309;15447792;16021470;25576301;29393594;29557506;31844290;31998317;33936100;34185709;35318648;35580925;35961784;37331337;37777971;39118504", "class_list": "", "function": "Genotype-Phenotype Correlations in TMPRSS3 (DFNB10/DFNB8) with Emphasis on Natural History. Review article, [RefSeq, PubMed]; Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated with Non-syndromic Deafness in Moroccan Families., [RefSeq, PubMed]; Identification of mutations in TMPRSS3 in Pakistani families with recessive, nonsyndromic congenital deafness. Publication Status: Online-Only, [RefSeq, PubMed]; Probable serine protease that plays a role in hearing. Acts as a permissive factor for cochlear hair cell survival and activation at the onset of hearing and is required for saccular hair cell survival (By similarity). Activates ENaC (in vitro)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; TMPRSS3 expression is limited in spiral ganglion neurons: implication for successful cochlear implantation. Review article, [RefSeq, PubMed]; This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a serine protease domain, a transmembrane domain, an LDL receptor-like domain, and a scavenger receptor cysteine-rich domain. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified by its association with both congenital and childhood onset autosomal recessive deafness. This gene is expressed in fetal cochlea and many other tissues, and is thought to be involved in the development and maintenance of the inner ear or the contents of the perilymph and endolymph. This gene was also identified as a tumor-associated gene that is overexpressed in ovarian tumors. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]., [RefSeq]; [Late-onset hereditary hearing loss caused by TMPRSS3 compound heterozygous mutations]., [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": 1, "reported_glycation": 0, "reported_snv": 18, "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": "D3DSJ6;Q5USC7;Q6ZMC3", "ec_number_list": [], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0017080 sodium channel regulator activity;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0043025 neuronal cell body;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006508 proteolysis;GO:0016485 protein processing;GO:0006883 intracellular sodium ion homeostasis;GO:0007605 sensory perception of sound", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "P57727-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15016-1", "uniprot_id": [ { "id": "TRI66_HUMAN", "url": "https://www.uniprot.org/uniprot/O15016", "type": "external" } ], "mass": 149469.0, "length": 1351, "protein_name": "Tripartite motif-containing protein 66", "gene_name": "TRIM66", "organism": "Human", "refseq_name": "tripartite motif-containing protein 66 isoform 1", "refseq_ac": [ { "id": "NP_055633", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055633", "type": "external" } ], "gene_names_uniprotkb": "TRIM66; C11orf29; KIAA0298", "gene_names_refseq": "C11orf29; TIF1DELTA; TIF1D; TRIM66", "protein_names_uniprotkb": "Tripartite motif-containing protein 66", "protein_names_refseq": "transcriptional intermediary factor 1 delta; tripartite motif-containing protein 66 isoform 1; tripartite motif-containing protein 66", "tax_id": 9606, "disease": "", "pathway": " (hsa:9866)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;11528127;15322135;23481700;25593309;26247633;28228285;28832583;29242379;29393594;34613933;34706523;35254053;35301175;35912155;38084627", "class_list": "", "function": "Circ-SATB2 (hsa_circ_0008928) and miR-150-5p are regulators of TRIM66 in the regulation of NSCLC cell growth and metastasis of NSCLC cells via the ceRNA pathway., [RefSeq, PubMed]; Data suggest a role for transcriptional intermediary factor 1 (TIF1) delta in heterochromatin-mediated gene silencing during postmeiotic phases of spermatogenesis., [RefSeq, PubMed]; Knockdown of TRIM66 in MDA-MB-468 triple negative breast cancer cell line suppresses proliferation and promotes apoptosis through EGFR signaling., [RefSeq, PubMed]; May function as transcription repressor; The repressive effects are mediated, at least in part, by recruitment of deacetylase activity. May play a role as negative regulator of postmeiotic genes acting through CBX3 complex formation and centromere association (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; TRIM66 Promotes Malignant Progression of Non-Small-Cell Lung Cancer Cells via Targeting MMP9. Publication Status: Online-Only, [RefSeq, PubMed]; TRIM66 hastens the malignant progression of non-small cell lung cancer via modulating MMP9-mediated TGF-beta/SMAD pathway., [RefSeq, PubMed]; TRIM66 may act as an oncogene through suppressing apoptosis pathway and promoting TGF-beta signaling in osteosarcoma carcinogenesis. TRIM66 may be a prognostic factor and potential therapeutic target in osteosarcoma., [RefSeq, PubMed]; Zhoushi Qi Ling decoction represses docetaxel resistance and glycolysis of castration-resistant prostate cancer via regulation of SNHG10/miR-1271-5p/TRIM66 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": 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": "A0A2R8YEA1;Q9BQQ4", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0003682 chromatin binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin;GO:0005654 nucleoplasm;GO:0010369 chromocenter", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "O15016-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WWA1-1", "uniprot_id": [ { "id": "TMM40_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WWA1", "type": "external" } ], "mass": 25495.0, "length": 233, "protein_name": "Transmembrane protein 40", "gene_name": "TMEM40", "organism": "Human", "refseq_name": "transmembrane protein 40 isoform a", "refseq_ac": [ { "id": "NP_001271335", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001271335", "type": "external" } ], "gene_names_uniprotkb": "TMEM40", "gene_names_refseq": "TMEM40", "protein_names_uniprotkb": "Transmembrane protein 40", "protein_names_refseq": "transmembrane protein 40 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:55287)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;12665801;18452278;19367720;20166139;29351801;29557506;30320346;30429286", "class_list": "", "function": "Study found that TMEM40 expression was increased in tongue squamous cell carcinoma (TSCC) tissues and associated with clinicopathological parameters. Further results indicated that TMEM40 promoted TSCC development and progression via regulation of p53, Bax and MMP9., [RefSeq, PubMed]; TMEM40 represents a potential oncogene, which exert a crucial role in the proliferation and apoptosis via the p53 signaling pathway in bladder 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": 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": "C9JID5;Q8NAL4;Q9NUZ4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8WWA1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WUH6-1", "uniprot_id": [ { "id": "TM263_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WUH6", "type": "external" } ], "mass": 11748.0, "length": 116, "protein_name": "Transmembrane protein 263", "gene_name": "TMEM263", "organism": "Human", "refseq_name": "transmembrane protein 263 isoform a", "refseq_ac": [ { "id": "NP_001306590", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306590", "type": "external" } ], "gene_names_uniprotkb": "TMEM263; C12orf23", "gene_names_refseq": "C12orf23; TMEM263", "protein_names_uniprotkb": "Transmembrane protein 263", "protein_names_refseq": "UPF0444 transmembrane protein C12orf23; transmembrane protein 263 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:90488)", "pathway_count": 1, "publication_count": 59, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;11237011;23584533;24714562;25502872;25576301;25645385;26154972;26375851;26728094;26758079;26992070;27397612;27846572;27862975;28228285;28510447;28657654;28832583;28834231;29237092;29242379;29493099;29508533;29557506;29632711;29786170;30315122;30429286;31154438;31373491;31844290;31848261;31998317;32157095;32161166;32502341;32938616;32938750;32983136;33091337;33298915;33465208;33592498;34019948;34238371;34932366;35051231;35254053;35580925;36010968;36241641;36284347;37938771;39302247;39534244;40307207;40596516", "class_list": "", "function": "May play a role in bone development., [UniProtKB, PubMed]; TMEM263: a novel candidate gene implicated in human autosomal recessive severe lethal skeletal dysplasia. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 9, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 9, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 9, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "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": "B3KMN9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q8WUH6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62068-1", "uniprot_id": [ { "id": "UBP46_HUMAN", "url": "https://www.uniprot.org/uniprot/P62068", "type": "external" } ], "mass": 42442.0, "length": 366, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 46", "gene_name": "USP46", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 46 isoform 2", "refseq_ac": [ { "id": "NP_001127695", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127695", "type": "external" } ], "gene_names_uniprotkb": "USP46", "gene_names_refseq": "USP46", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 46; 3.4.19.12; Deubiquitinating enzyme 46; Ubiquitin thioesterase 46; Ubiquitin-specific-processing protease 46", "protein_names_refseq": "deubiquitinating enzyme 46; ubiquitin carboxyl-terminal hydrolase 46 isoform 2; ubiquitin carboxyl-terminal hydrolase 46; ubiquitin thioesterase 46; ubiquitin thiolesterase 46; ubiquitin-specific-processing protease 46", "tax_id": 9606, "disease": "", "pathway": " (hsa:64854)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "11237011;14715245;19075014;19260141;20147737;22043315;23481700;25418920;26388029;26811146;27650958;30315122;30379171;30466959;30779550;31530632;31844290;33592498;33691108;33844468;33936100;33968037;34357683;34932366;35051231;36241641;36335636;37798301;39432777", "class_list": "", "function": "Deubiquitinating enzyme that plays a role in behavior, possibly by regulating GABA action. May act by mediating the deubiquitination of GAD1/GAD67 (By similarity). Has almost no deubiquitinating activity by itself and requires the interaction with WDR48 to have a high activity (PubMed:19075014, PubMed:26388029). Not involved in deubiquitination of monoubiquitinated FANCD2 (PubMed:19075014)., [UniProtKB, UniProtKB, PubMed, PubMed]; Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP46 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Jun 2009]., [RefSeq]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The USP46 complex deubiquitylates LRP6 to promote Wnt/beta-catenin signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Two novel multisubunit deubiquitinating enzyme complexes containing USP12 and USP46, respectively. Both complexes contain the UAF1 protein as a bona fide subunit. Interestingly, UAF1, [RefSeq, PubMed]; Ubiquitin specific protease 46 potentiates triple negative breast cancer development by stabilizing PGAM1-mediated glycolysis., [RefSeq, PubMed]; WDR20 prevents hepatocellular carcinoma senescence by orchestrating the simultaneous USP12/46-mediated deubiquitination of c-Myc., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B7Z3Y7;B7Z675;B7Z7S3;G8ACC7;Q80V95;Q9H7U4;Q9H9T8", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0031647 regulation of protein stability;GO:0090263 positive regulation of canonical Wnt signaling pathway;GO:0032228 regulation of synaptic transmission, GABAergic", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "P62068-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q93038-1", "uniprot_id": [ { "id": "TNR25_HUMAN", "url": "https://www.uniprot.org/uniprot/Q93038", "type": "external" } ], "mass": 45385.0, "length": 417, "protein_name": "Tumor necrosis factor receptor superfamily member 25", "gene_name": "TNFRSF25", "organism": "Human", "refseq_name": "tumor necrosis factor receptor superfamily member 25 isoform 12 precursor", "refseq_ac": [ { "id": "NP_001034753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034753", "type": "external" } ], "gene_names_uniprotkb": "TNFRSF25; APO3; DDR3; DR3; PRO779; TNFRSF12; WSL1; WSL", "gene_names_refseq": "APO-3; DDR3; DR3; LARD; TNFRSF12; TNFRSF25; TR3; TRAMP; WSL-1; WSL-LR", "protein_names_uniprotkb": "Tumor necrosis factor receptor superfamily member 25; Apo-3; Apoptosis-inducing receptor AIR; Apoptosis-mediating receptor DR3; Apoptosis-mediating receptor TRAMP; Death receptor 3; LARD; Lymphocyte-associated receptor of death; Protein WSL-1; Protein WSL", "protein_names_refseq": "apoptosis inducing receptor; apoptosis-inducing receptor AIR; apoptosis-mediating receptor DR3; apoptosis-mediating receptor TRAMP; death domain receptor 3 soluble form; death receptor beta; lymphocyte-associated receptor of death; protein WSL-1; tumor necrosis factor receptor superfamily member 25 isoform 12 precursor; tumor necrosis factor receptor superfamily member 25; tumor necrosis factor receptor superfamily, member 12 (translocating chain-association membrane protein)", "tax_id": 9606, "disease": "", "pathway": " (hsa:8718); (R-HSA-5669034)", "pathway_count": 2, "publication_count": 55, "publication_id_list": "10074428;10359578;10398604;10484778;10597252;10615125;11237011;11571266;11882293;11911831;12189164;12949498;12975309;14656435;14759258;15356117;15470070;16501042;1655907;17632511;18571443;18606301;20032458;20222921;20307208;20510730;20979233;21300286;21722370;22197273;22664871;22801960;24070496;25892735;28228285;30979585;31608721;31628153;31637018;32397343;33177161;35051231;35063404;38253038;7913952;8120384;8871664;8875942;8934525;8994832;9052839;9114039;9446802;9878548;9915703", "class_list": "", "function": "Co-Expression and Functional Interactions of Death Receptor 3 and E-Selectin in Clear Cell Renal Cell Carcinoma., [RefSeq, PubMed]; Receptor for TNFSF12/APO3L/TWEAK. Interacts directly with the adapter TRADD. Mediates activation of NF-kappa-B and induces apoptosis. May play a role in regulating lymphocyte homeostasis., [UniProtKB, PubMed, PubMed, PubMed]; Syndecan 4, galectin 2, and death receptor 3 (DR3) as novel proteins in pathophysiology of preeclampsia., [RefSeq, PubMed]; TL1A-DR3 Plasma Levels Are Predictive of HIV-1 Disease Control, and DR3 Costimulation Boosts HIV-1-Specific T Cell Responses., [RefSeq, PubMed]; The Role of TNFR2 and DR3 in the In Vivo Expansion of Tregs in T Cell Depleting Transplantation Regimens. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The identifies a new inflammatory mechanism in Mucosal-associated invariant T cells linking the DR3/TL1A axis with amplification of TCR-dependent and -independent effector functions, particularly inducing excessive innate TNF-alpha production., [RefSeq, PubMed]; The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is expressed preferentially in the tissues enriched in lymphocytes, and it may play a role in regulating lymphocyte homeostasis. This receptor has been shown to stimulate NF-kappa B activity and regulate cell apoptosis. The signal transduction of this receptor is mediated by various death domain containing adaptor proteins. Knockout studies in mice suggested the role of this gene in the removal of self-reactive T cells in the thymus. Multiple alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported, most of which are potentially secreted molecules. The alternative splicing of this gene in B and T cells encounters a programmed change upon T-cell activation, which predominantly produces full-length, membrane bound isoforms, and is thought to be involved in controlling lymphocyte proliferation induced by T-cell activation. [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": 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": 3, "reported_glycation": 0, "reported_snv": 11, "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": "B1ALX2;B1ALX3;B7ZLL7;O00275;O00276;O00277;O00278;O00279;O00280;O14865;O14866;P78507;P78515;Q17RU4;Q92983;Q93036;Q93037;Q99722;Q99830;Q99831;Q9BY86;Q9UME0;Q9UME1;Q9UME5", "ec_number_list": [], "go_molecular_function": "GO:0005031 tumor necrosis factor receptor activity;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0007166 cell surface receptor signaling pathway;GO:0006915 apoptotic process;GO:0097190 apoptotic signaling pathway;GO:0042981 regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q93038-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96FX7-1", "uniprot_id": [ { "id": "TRM61_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96FX7", "type": "external" } ], "mass": 31382.0, "length": 289, "protein_name": "tRNA (adenine(58)-N(1))-methyltransferase catalytic subunit TRMT61A", "gene_name": "TRMT61A", "organism": "Human", "refseq_name": "tRNA (adenine(58)-N(1))-methyltransferase catalytic subunit TRMT61A", "refseq_ac": [ { "id": "NP_689520", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689520", "type": "external" } ], "gene_names_uniprotkb": "TRMT61A; C14orf172; TRM61", "gene_names_refseq": "C14orf172; GCD14; Gcd14p; TRM61; TRMT61A; hTRM61", "protein_names_uniprotkb": "tRNA (adenine(58)-N(1))-methyltransferase catalytic subunit TRMT61A; 2.1.1.-; 2.1.1.220; mRNA methyladenosine-N(1)-methyltransferase catalytic subunit TRMT61A; tRNA(m1A58)-methyltransferase subunit TRMT61A; tRNA(m1A58)MTase subunit TRMT61A", "protein_names_refseq": "mRNA methyladenosine-N(1)-methyltransferase catalytic subunit TRMT61A; tRNA (adenine(58)-N(1))-methyltransferase catalytic subunit TRMT61A; tRNA (adenine-N(1)-)-methyltransferase catalytic subunit TRM61; tRNA (adenine-N(1)-)-methyltransferase catalytic subunit TRMT61A; tRNA methyltransferase 61 homolog A; tRNA(m1A58)-methyltransferase subunit TRM61; tRNA(m1A58)-methyltransferase subunit TRMT61A; tRNA(m1A58)MTase subunit TRM61; tRNA(m1A58)MTase subunit TRMT61A", "tax_id": 9606, "disease": "", "pathway": " (hsa:115708); (R-HSA-6782315)", "pathway_count": 2, "publication_count": 74, "publication_id_list": "10430867;10982862;11027153;11111046;11237011;12403464;15861136;15870694;15994936;16043508;16424344;17071714;18567810;19017811;19414587;19690332;20123966;20308323;20354154;20584901;21059936;21131277;22223895;22344696;22591353;22995836;23042678;23048041;23381944;23604283;24126054;24204302;24715725;24901367;25261850;25404562;25916855;26154972;26160102;26234676;26310293;26470919;26992070;27055666;28510447;28832583;29072297;29107537;29557506;29632046;29786170;31481669;31844290;31848261;32357974;32387766;32502341;33141586;33298915;33592498;33717175;33936100;34211107;34229054;34561969;34728628;34932366;35051231;35580925;36010968;36610787;40914422;9430663;9851972", "class_list": "", "function": "Catalytic subunit of tRNA (adenine-N(1)-)-methyltransferase, which catalyzes the formation of N(1)-methyladenine at position 58 (m1A58) in initiator methionyl-tRNA (PubMed:16043508). Catalytic subunit of mRNA N(1)-methyltransferase complex, which mediates methylation of adenosine residues at the N(1) position of a small subset of mRNAs: N(1) methylation takes place in tRNA T-loop-like structures of mRNAs and is only present at low stoichiometries (PubMed:29072297, PubMed:29107537)., [UniProtKB, PubMed, PubMed, PubMed]; N(1)-methyladenosine methylation in tRNA drives liver tumourigenesis by regulating cholesterol metabolism. Publication Status: Online-Only, [RefSeq, PubMed]; The TRM61 heterotetramer is the only active species, both subunits are required for orientating tRNA for catalysis at Trm61., [RefSeq, PubMed]; We suggest that PKCA tightly controls TRM6/61 activity to prevent translation deregulation that would favor neoplastic 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NN78;Q8N7Q9", "ec_number_list": [ { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "2.1.1.218", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.218", "type": "external" }, { "id": "2.1.1.221", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.221", "type": "external" }, { "id": "2.1.1.220", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.220", "type": "external" } ], "go_molecular_function": "GO:0061953 mRNA (adenine-N1-)-methyltransferase activity;GO:0160107 tRNA (adenine(58)-N1)-methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0031515 tRNA (m1A) methyltransferase complex", "go_biological_process": "GO:0006397 mRNA processing;GO:0030488 tRNA methylation", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q96FX7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2M3C6-1", "uniprot_id": [ { "id": "TM266_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2M3C6", "type": "external" } ], "mass": 57626.0, "length": 523, "protein_name": "Transmembrane protein 266", "gene_name": "TMEM266", "organism": "Human", "refseq_name": "transmembrane protein 266", "refseq_ac": [ { "id": "NP_689548", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689548", "type": "external" } ], "gene_names_uniprotkb": "TMEM266; C15orf27; HVRP1", "gene_names_refseq": "C15orf27; HVRP1; HsHVRP1; TMEM266; hTMEM266", "protein_names_uniprotkb": "Transmembrane protein 266; HV1-related protein 1; HsHVRP1; hTMEM266", "protein_names_refseq": "Hv1 related protein 1; transmembrane protein 266; transmembrane protein C15orf27", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 4, "publication_id_list": "11237011;22020278;25165868;30810529", "class_list": "", "function": "Here the authors show that hTMEM266 forms oligomers, undergoes both rapid (micros) and slow (ms) structural rearrangements in response to changes in voltage, and contains a Zn(2+) binding site that can regulate the slow conformational transition. Our results demonstrate that the S1-S4 domain in hTMEM266 is a functional voltage sensor. Publication Status: Online-Only, [RefSeq, PubMed]; Results identified HVRP1, a voltage sensing domains-containing protein primarily expressed in the central nervous system with high expression in cerebellar tissues particularly in the granule layer. Publication Status: Online-Only, [RefSeq, PubMed]; Voltage-sensor protein present on the post-synaptic side of glutamatergic mossy fibers and granule cells in the cerebellum (PubMed:25165868, PubMed:30810529). Despite the presence of a voltage-sensor segment, does not form a functional ion channel and its precise role remains unclear (PubMed:25165868, PubMed:30810529). Undergoes both rapid and slow structural rearrangements in response to changes in voltage (PubMed:30810529). Contains a zinc-binding site that can regulate the slow conformational transition (PubMed:30810529)., [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": 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": "Q8N993;Q96LL5", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0022832 voltage-gated channel activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0030425 dendrite;GO:0043204 perikaryon", "go_biological_process": "GO:0006811 monoatomic ion transport;GO:0055085 transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q2M3C6-1", "record_type": "protein", "filter_code": "0000000.0100100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULS5-1", "uniprot_id": [ { "id": "TMCC3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULS5", "type": "external" } ], "mass": 53785.0, "length": 477, "protein_name": "Transmembrane and coiled-coil domain protein 3", "gene_name": "TMCC3", "organism": "Human", "refseq_name": "transmembrane and coiled-coil domain protein 3 isoform 2", "refseq_ac": [ { "id": "NP_001287965", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287965", "type": "external" } ], "gene_names_uniprotkb": "TMCC3; KIAA1145", "gene_names_refseq": "TMCC3", "protein_names_uniprotkb": "Transmembrane and coiled-coil domain protein 3", "protein_names_refseq": "transmembrane and coiled-coil domain protein 3 isoform 2; transmembrane and coiled-coil domain protein 3; transmembrane and coiled-coil domains 3; transmembrane and coiled-coil domains protein 3", "tax_id": 9606, "disease": "alcohol-related neurodevelopmental disorder (Disease Ontology:DOID:0050667)", "pathway": " (hsa:57458)", "pathway_count": 1, "publication_count": 40, "publication_id_list": "11237011;18707149;20306291;22544926;23481700;24454821;25505266;26375851;26992070;27697108;28228285;28832583;28904123;29242379;29393594;29508533;29557506;29632046;30220460;30315122;31154438;31530632;31696206;31844290;31998317;32357974;32488085;32938616;33298915;33691108;33717175;33742122;33968037;34171305;34405274;35051231;35154160;35580925;36284347;37217939", "class_list": "", "function": "A TMCC3 mutant lacking the N-terminal coiled-coil domain abolished localization to tubular network of the endoplasmic reticulum, suggesting that TMCC3 localized independently of binding to atlastins., [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; TMCC3 proteins are localized in endoplasmic reticulum through transmembrane domains and polymerized with other TMCC3 protein an 1-3-3 proteins., [RefSeq, PubMed]; Transmembrane and coiled-coil domain family 3 (TMCC3) regulates breast cancer stem cell and AKT activation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8IWB2", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0071889 14-3-3 protein binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:0012505 endomembrane system;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q9ULS5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UM00-3", "uniprot_id": [ { "id": "TMCO1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UM00", "type": "external" } ], "mass": 27079.0, "length": 239, "protein_name": "Calcium load-activated calcium channel", "gene_name": "TMCO1", "organism": "Human", "refseq_name": "calcium load-activated calcium channel isoform a", "refseq_ac": [ { "id": "NP_061899", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061899", "type": "external" } ], "gene_names_uniprotkb": "TMCO1; PNAS-10; PNAS-136; PRO177; TMCC4", "gene_names_refseq": "CFSMR1; HP10122; PCIA3; PNAS-136; TMCC4; TMCO1", "protein_names_uniprotkb": "Calcium load-activated calcium channel; CLAC channel; GEL complex subunit TMCO1; Transmembrane and coiled-coil domain-containing protein 1; Transmembrane and coiled-coil domains protein 4; Xenogeneic cross-immune protein PCIA3", "protein_names_refseq": "CLAC channel; Ca(2+) load-activated Ca(2+) channel; GEL complex subunit TMCO1; calcium load-activated calcium channel isoform a; calcium load-activated calcium channel; putative membrane protein; transmembrane and coiled-coil domain-containing protein 1; transmembrane and coiled-coil domains 4; xenogeneic cross-immune protein PCIA3", "tax_id": 9606, "disease": "craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome (Disease Ontology:DOID:0081072); craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 (Disease Ontology:DOID:0081124); primary open angle glaucoma (Disease Ontology:DOID:1070)", "pathway": " (hsa:54499)", "pathway_count": 1, "publication_count": 92, "publication_id_list": "10393320;12975309;15004565;17081983;18669648;18691976;20018682;20068231;21532571;22570627;22714896;22869377;23320496;24194475;24714562;24715725;25576301;25645385;25810538;25892735;26154972;26375851;26728094;26992070;27212239;27397612;27600516;27846572;27862975;28063628;28218747;28228285;28832583;28834231;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29774024;29786170;29789417;30315122;30410026;30429286;30484775;31092671;31217245;31844290;31848261;31998317;32157095;32265295;32387766;32488085;32502341;32820719;32897882;32938616;32983136;33141586;33465208;33592498;33717175;33912179;33968037;34019948;34087483;34171305;34509645;34561969;34932366;35051231;35121659;35318648;35580925;36010968;36215666;36241641;36261522;36284347;36581221;36708876;37527660;37938771;38372107;40596516", "class_list": "", "function": "Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 in two new patients with the same homozygous TMCO1 variant and review of the literature. Review article, [RefSeq, PubMed]; Endoplasmic reticulum (ER) calcium-selective channel preventing intracellular Ca2(+) stores from overfilling and maintaining calcium homeostasis in the ER (PubMed:27212239). In response to endoplasmic reticulum (ER) Ca2(+) overloading, assembles into a homotetramer, forming a functional calcium-selective channel facilitating Ca2(+) release (PubMed:27212239). Mediates ER Ca2(+) homeostasis in osteoblasts and plays a key role in bone formation, via the CaMKII-HDAC4-RUNX2 signaling axis (By similarity). Component of the multi-pass translocon (MPT) complex that mediates insertion of multi-pass membrane proteins into the lipid bilayer of membranes (PubMed:32820719, PubMed:36261522). The MPT complex takes over after the SEC61 complex: following membrane insertion of the first few transmembrane segments of proteins by the SEC61 complex, the MPT complex occludes the lateral gate of the SEC61 complex to promote insertion of subsequent transmembrane regions (PubMed:36261522). Within the MPT complex, the GEL subcomplex may mediate insertion of transmembrane regions into the membrane (PubMed:36261522)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; IASPP suppresses Gp78-mediated TMCO1 degradation to maintain Ca(2+) homeostasis and control tumor growth and drug resistance., [RefSeq, PubMed]; Intraocular pressure (IOP)was significantly associated with rs11656696, located in GAS7 at 17p13.1 and with rs7555523, located in TMCO1 at 1q24.1.These data suggest that we have identified two clinically relevant genes involved in IOP regulation., [RefSeq, PubMed]; Repeat polymorphisms underlie top genetic risk loci for glaucoma and colorectal cancer., [RefSeq, PubMed]; TMCO1 regulates cell proliferation, metastasis and EMT signaling through CALR, promoting ovarian cancer progression and cisplatin resistance. Publication Status: Online-Only, [RefSeq, PubMed]; This locus encodes a transmembrane protein. Mutations at this locus have been associated with craniofacial dysmorphism, skeletal anomalies, and cognitive disability. Mutations at this locus have also been associated with open angle glaucoma blindness. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]., [RefSeq]; This report shows a TMCO1 sequence variant being associated with a genetic disorder in humans., [RefSeq, PubMed]; This study shows a relationship between genetic variation in and around TMCO1 with age at diagnosis of POAG and provides clues to the potential cellular function/s of this gene. Publication Status: Online-Only, [RefSeq, PubMed]; We report a genome-wide association study for open-angle glaucoma (OAG) blindness at tnco1 and cdkn2b loci., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 2, "reported_glycation": 0, "reported_snv": 3, "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": "B2REA0;J9JIE6;O75545;Q9BZS3;Q9BZU8", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0005262 calcium channel activity;GO:0043022 ribosome binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0031966 mitochondrial membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0001503 ossification;GO:0070588 calcium ion transmembrane transport;GO:0006983 ER overload response;GO:0032469 endoplasmic reticulum calcium ion homeostasis;GO:0160063 multi-pass transmembrane protein insertion into ER membrane", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "Q9UM00-3", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9C030-1", "uniprot_id": [ { "id": "TRIM6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9C030", "type": "external" } ], "mass": 56400.0, "length": 488, "protein_name": "Tripartite motif-containing protein 6", "gene_name": "TRIM6", "organism": "Human", "refseq_name": "tripartite motif-containing protein 6 isoform 1", "refseq_ac": [ { "id": "NP_001003818", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003818", "type": "external" } ], "gene_names_uniprotkb": "TRIM6; RNF89", "gene_names_refseq": "RNF89; TRIM6", "protein_names_uniprotkb": "Tripartite motif-containing protein 6; 2.3.2.27; RING finger protein 89; RING-type E3 ubiquitin transferase TRIM6", "protein_names_refseq": "RING finger protein 89; RING-type E3 ubiquitin transferase TRIM6; tripartite motif-containing protein 6 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:117854); (R-HSA-877300)", "pathway_count": 2, "publication_count": 80, "publication_id_list": "10067896;10986460;11013086;11237011;11331580;11972023;12040185;12438563;12446674;12915721;1396683;14586410;14722222;1508672;15143187;15322115;15388922;15530433;16237089;16467876;16775307;17125875;17156811;18362138;18591661;20049711;20130243;20304997;20363976;21680743;23061660;24417533;24714562;24882218;25576301;25892735;26375851;26992070;27622505;28679761;28832583;28834231;29242379;30484775;30779550;31694946;31844290;32938616;33239784;33968037;33981976;34171305;35051231;35263596;35533195;36010968;36241641;36284347;37236551;37759698;38420829;38515377;38813007;7510216;7514165;7530745;7615558;7617032;7657660;7673114;7690989;7796299;8156998;8176225;8483949;8530158;8550631;8631301;9111318;9143706", "class_list": "", "function": "(Microbial infection) Ubiquitinates ebolavirus protein VP35 leading to enhanced viral transcriptase activity., [UniProtKB, PubMed, PubMed]; E3 ubiquitin ligase that plays a crucial role in the activation of the IKBKE-dependent branch of the type I interferon signaling pathway (PubMed:24882218, PubMed:31694946). In concert with the ubiquitin-conjugating E2 enzyme UBE2K, synthesizes unanchored 'Lys-48'-linked polyubiquitin chains that promote the oligomerization and autophosphorylation of IKBKE leading to stimulation of an antiviral response (PubMed:24882218). Also ubiquitinates MYC and inhibits its transcription activation activity, maintaining the pluripotency of embryonic stem cells (By similarity). Promotes the association of unanchored 'Lys-48'-polyubiquitin chains with DHX16 leading to enhanced RIGI-mediated innate antiviral immune response (PubMed:35263596)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Heterologous RING, B-box 2, and CC domains from related TRIM proteins can functionally substitute for TRIM5alpha(rh) domains., [RefSeq, PubMed]; TRIM6 Promotes ROS-Mediated Inflammasome Activation and Pyroptosis in Renal Tubular Epithelial Cells via Ubiquitination and Degradation of GPX3 Protein., [RefSeq, PubMed]; TRIM6 facilitates SARS-CoV-2 proliferation by catalyzing the K29-typed ubiquitination of NP to enhance the ability to bind viral genomes., [RefSeq, PubMed]; TRIM6 silencing for inhibiting growth and angiogenesis of gliomas by regulating VEGFA., [RefSeq, PubMed]; TRIM6: An Upregulated Biomarker with Prognostic Significance and Immune Correlations in Gliomas. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, B-box type 1 and B-box type 2 domain, and a coiled-coil region. The protein localizes to the nucleus, but its specific function has not been identified. This gene is mapped to chromosome 11p15, where it resides within a TRIM gene cluster. Alternative splicing results in multiple transcript variants. A read-through transcript from this gene into the downstream TRIM34 gene has also been observed, which results in a fusion product from these neighboring family members. [provided by RefSeq, Oct 2010]., [RefSeq]; Tripartite motif protein 6 promotes hepatocellular carcinoma progression via multiple 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": 0, "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": "A8K2A7;B4DDQ5;Q86WZ8;Q9HCR1", "ec_number_list": [ { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.7.84", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.84", "type": "external" }, { "id": "1.8.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.4.-", "type": "external" }, { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "6.3.2.n3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.n3", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0019901 protein kinase binding;GO:0030674 protein-macromolecule adaptor activity;GO:0042802 identical protein binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0010629 negative regulation of gene expression;GO:0010800 positive regulation of peptidyl-threonine phosphorylation;GO:0032496 response to lipopolysaccharide;GO:0033138 positive regulation of peptidyl-serine phosphorylation;GO:0045087 innate immune response", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q9C030-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51580-1", "uniprot_id": [ { "id": "TPMT_HUMAN", "url": "https://www.uniprot.org/uniprot/P51580", "type": "external" } ], "mass": 28180.0, "length": 245, "protein_name": "Thiopurine S-methyltransferase", "gene_name": "TPMT", "organism": "Human", "refseq_name": "thiopurine S-methyltransferase isoform 1", "refseq_ac": [ { "id": "NP_000358", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000358", "type": "external" } ], "gene_names_uniprotkb": "TPMT", "gene_names_refseq": "TPMTD; TPMT", "protein_names_uniprotkb": "Thiopurine S-methyltransferase; 2.1.1.67; Thiopurine methyltransferase", "protein_names_refseq": "S-adenosyl-L-methionine:thiopurine S-methyltransferase; thiopurine S-methyltransferase isoform 1", "tax_id": 9606, "disease": "inflammatory bowel disease (Disease Ontology:DOID:0050589); poor metabolism of thiopurines 1 (Disease Ontology:DOID:0061004); poor metabolism of thiopurines (Disease Ontology:DOID:0080172); leukopenia (Disease Ontology:DOID:615); alopecia (Disease Ontology:DOID:987); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:7172); (R-HSA-156581); (R-HSA-5578995); (R-HSA-9748787)", "pathway_count": 4, "publication_count": 117, "publication_id_list": "10208641;10331075;10514445;10644686;10751626;10840050;10978155;11511179;12163696;12435799;12590576;12697733;13981612;15747503;15788214;15802809;15819814;15850391;15943548;16220112;16267626;16407288;16476125;16530731;16717136;16789994;17243178;17301077;17885628;17996297;18318008;18452278;18484748;18539146;18669648;18767875;19413330;19415658;19608861;19651622;19664994;19690332;197968;20068231;20166139;20216118;20230923;211390;21193388;21723252;22444596;23096567;23481700;23816837;24275569;24734162;24824603;24974183;25645385;25892735;26238318;26375851;26992070;27570878;28510447;28832583;28904123;29482072;29557506;29632711;29769354;29786170;30315122;30429286;30987408;31844290;31848261;32157095;32350084;32502341;32938616;32983136;33717175;33912179;33968037;35051231;35580925;36010968;36284347;36946340;37556121;37865284;38159853;40914422;5767308;657528;6989049;7628307;7862671;8226881;8316220;8561894;8644731;8670112;8968737;9099726;9132023;9175157;9177237;9246020;9336428;942489;9453052;9586999;9711875;9931345;9931346", "class_list": "", "function": "Catalyzes the S-methylation of thiopurine drugs such as 6-mercaptopurine (also called mercaptopurine, 6-MP or its brand name Purinethol) and 6-thioguanine (also called tioguanine or 6-TG) using S-adenosyl-L-methionine as the methyl donor (PubMed:18484748, PubMed:657528). TPMT activity modulates the cytotoxic effects of thiopurine prodrugs. A natural substrate for this enzyme has yet to be identified., [UniProtKB, PubMed, PubMed]; Differential molecular mechanisms of substrate recognition by selenium methyltransferases, INMT and TPMT, in selenium detoxification and excretion., [RefSeq, PubMed]; Observational study of genetic testing. (HuGE Navigator), [RefSeq, PubMed]; TPMT gene polymorphisms (c.238G>C, c.460G>A and c.719A>G) in a healthy Venezuelan population., [RefSeq, PubMed]; The c.415C>T polymorphism in NUDT15 is more frequent than the polymorphisms in TPMT in Chilean patients who use thiopurine drugs., [RefSeq, PubMed]; This gene encodes the enzyme that metabolizes thiopurine drugs via S-adenosyl-L-methionine as the S-methyl donor and S-adenosyl-L-homocysteine as a byproduct. Thiopurine drugs such as 6-mercaptopurine are used as chemotherapeutic agents. Genetic polymorphisms that affect this enzymatic activity are correlated with variations in sensitivity and toxicity to such drugs within individuals, causing thiopurine S-methyltransferase deficiency. Related pseudogenes have been identified on chromosomes 3, 18 and X. [provided by RefSeq, Aug 2014]., [RefSeq]; Transcriptome analysis reveals involvement of thiopurine S-methyltransferase in oxidation-reduction processes., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 6, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O14806;O15423;O15424;O15425;O15426;O15515;O15548;O43213;Q5VUK6;Q9UBE6;Q9UBT8;Q9UE62", "ec_number_list": [ { "id": "2.1.1.67", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.67", "type": "external" } ], "go_molecular_function": "GO:0008119 thiopurine S-methyltransferase activity;GO:1904047 S-adenosyl-L-methionine binding", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0006805 xenobiotic metabolic process;GO:0042178 xenobiotic catabolic process;GO:0006139 nucleobase-containing compound metabolic process;GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 12.0, "record_id": "P51580-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TBZ5-1", "uniprot_id": [ { "id": "ZN502_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TBZ5", "type": "external" } ], "mass": 62920.0, "length": 544, "protein_name": "Zinc finger protein 502", "gene_name": "ZNF502", "organism": "Human", "refseq_name": "zinc finger protein 502", "refseq_ac": [ { "id": "NP_001127912", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127912", "type": "external" } ], "gene_names_uniprotkb": "ZNF502", "gene_names_refseq": "ZNF502", "protein_names_uniprotkb": "Zinc finger protein 502", "protein_names_refseq": "zinc finger protein 502", "tax_id": 9606, "disease": "", "pathway": " (hsa:91392)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;25556234;30379171;30429286;31154438;31848261;32938616;37902191", "class_list": "", "function": "ENAH-202 promotes cancer progression in oral squamous cell carcinoma by regulating ZNF502/VIM axis., [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB]; Results present initial characterization of key proteins Cav2 and CFL1 as cellular factors that colocalize with M in viral inclusions and filaments and ZNF502 protein which appears to interact with RSV M in the nucleus., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 21, "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: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:0006355 regulation of DNA-templated transcription;GO:0044794 host-mediated activation of viral process;GO:0019076 viral release from host cell", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q8TBZ5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92519-1", "uniprot_id": [ { "id": "TRIB2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92519", "type": "external" } ], "mass": 38801.0, "length": 343, "protein_name": "Tribbles homolog 2", "gene_name": "TRIB2", "organism": "Human", "refseq_name": "tribbles homolog 2", "refseq_ac": [ { "id": "NP_067675", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067675", "type": "external" } ], "gene_names_uniprotkb": "TRIB2; TRB2", "gene_names_refseq": "C5FW; GS3955; TRB2; TRIB2", "protein_names_uniprotkb": "Tribbles homolog 2; TRB-2", "protein_names_refseq": "tribbles homolog 2", "tax_id": 9606, "disease": "glucose metabolism disease (Disease Ontology:DOID:4194)", "pathway": " (hsa:28951)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "11237011;15299019;15950723;17344846;24089522;25645385;26992070;27041596;27515988;27600516;28218747;28832583;29242379;29437277;29557506;29786170;30379171;30410026;30783092;31154438;31222486;31844290;32157095;32983136;33592498;33912179;33968037;33981976;35051231;35561310;35580925;36010968;36284347;36710479;36884349;37083954;38254916;38394623", "class_list": "", "function": "Anti-TRB2 antibody activities were detected in several autoimmune uveitis patients but not in control subjects, suggesting that TRB2 is a uveitis-associated candidate autoantigen., [RefSeq, PubMed]; Interacts with MAPK kinases and regulates activation of MAP kinases. Does not display kinase activity (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Polymorphisms in TRIB2 and CAPRIN2 Genes Contribute to the Susceptibility to High Myopia-Induced Cataract in Han Chinese Population. Publication Status: Online-Only, [RefSeq, PubMed]; TRIB2 safeguards naive T cell homeostasis during aging., [RefSeq, PubMed]; TRIB2-Mediated Modulation of AMPK Promotes Hepatic Insulin Resistance., [RefSeq, PubMed]; This gene encodes one of three members of the Tribbles family. The Tribbles members share a Trb domain, which is homologous to protein serine-threonine kinases, but lacks the active site lysine and probably lacks a catalytic function. The Tribbles proteins interact and modulate the activity of signal transduction pathways in a number of physiological and pathological processes. This Tribbles member induces apoptosis of cells mainly of the hematopoietic origin. It has been identified as a protein up-regulated by inflammatory stimuli in myeloid (THP-1) cells, and also as an oncogene that inactivates the transcription factor C/EBPalpha (CCAAT/enhancer-binding protein alpha) and causes acute myelogenous leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]., [RefSeq]; Tribbles Genes in Gastric Cancer: A Tumor-Suppressive Role for TRIB2. Publication Status: Online-Only, [RefSeq, PubMed]; Upregulation of Tribbles decreases body weight and increases sleep duration., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R851;D6W510", "ec_number_list": [], "go_molecular_function": "GO:0055106 ubiquitin-protein transferase regulator activity;GO:0031434 mitogen-activated protein kinase kinase binding;GO:0031625 ubiquitin protein ligase binding;GO:0004860 protein kinase inhibitor activity;GO:0061629 RNA polymerase II-specific DNA-binding transcription factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005856 cytoskeleton", "go_biological_process": "GO:0032693 negative regulation of interleukin-10 production;GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process;GO:0045599 negative regulation of fat cell differentiation;GO:0043405 regulation of MAP kinase activity", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q92519-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96HE8-1", "uniprot_id": [ { "id": "TMM80_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96HE8", "type": "external" } ], "mass": 15709.0, "length": 143, "protein_name": "Transmembrane protein 80", "gene_name": "TMEM80", "organism": "Human", "refseq_name": "transmembrane protein 80 isoform 4", "refseq_ac": [ { "id": "NP_001263182", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263182", "type": "external" } ], "gene_names_uniprotkb": "TMEM80", "gene_names_refseq": "TMEM80", "protein_names_uniprotkb": "Transmembrane protein 80", "protein_names_refseq": "transmembrane protein 80 isoform 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:283232)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;19880432;27920218;28832583;29242379;29632711;30429286", "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": "A0A0A0MS80;A8MQ01;A8MXY8;B7WNU5;B7Z7W9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane;GO:0035869 ciliary transition zone;GO:0005929 cilium", "go_biological_process": "GO:1905515 non-motile cilium assembly", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q96HE8-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96MV1-1", "uniprot_id": [ { "id": "TLCD4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96MV1", "type": "external" } ], "mass": 30041.0, "length": 263, "protein_name": "TLC domain-containing protein 4", "gene_name": "TLCD4", "organism": "Human", "refseq_name": "TLC domain-containing protein 4", "refseq_ac": [ { "id": "NP_001186608", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186608", "type": "external" } ], "gene_names_uniprotkb": "TLCD4; TMEM56", "gene_names_refseq": "TLCD4; TMEM56", "protein_names_uniprotkb": "TLC domain-containing protein 4; Transmembrane protein 56", "protein_names_refseq": "TLC domain-containing protein 4; transmembrane protein 56", "tax_id": 9606, "disease": "", "pathway": " (hsa:148534)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;19608861;29769354;35051231;35494241;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": 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": "B2RPI2;D3DT48", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane", "go_biological_process": "GO:0055088 lipid homeostasis", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q96MV1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TBZ6-1", "uniprot_id": [ { "id": "TM10A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TBZ6", "type": "external" } ], "mass": 39719.0, "length": 339, "protein_name": "tRNA methyltransferase 10 homolog A", "gene_name": "TRMT10A", "organism": "Human", "refseq_name": "tRNA methyltransferase 10 homolog A isoform 1", "refseq_ac": [ { "id": "NP_001128137", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128137", "type": "external" } ], "gene_names_uniprotkb": "TRMT10A; RG9MTD2", "gene_names_refseq": "HEL-S-88; MSSGM1; MSSGM; RG9MTD2; TRM10; TRMT10A", "protein_names_uniprotkb": "tRNA methyltransferase 10 homolog A; 2.1.1.221; RNA (guanine-9-)-methyltransferase domain-containing protein 2; tRNA (guanine(9)-N(1))-methyltransferase TRMT10A", "protein_names_refseq": "RNA (guanine-9-)-methyltransferase domain-containing protein 2; epididymis secretory protein Li 88; tRNA (guanine(9)-N(1))-methyltransferase TRMT10A; tRNA methyltransferase 10 homolog A isoform 1; tRNA methyltransferase 10 homolog A", "tax_id": 9606, "disease": "glucose metabolism disease (Disease Ontology:DOID:4194); microcephaly, short stature, and impaired glucose metabolism 1 (MONDO:MONDO:0000208)", "pathway": " (hsa:93587); (R-HSA-6782315)", "pathway_count": 2, "publication_count": 60, "publication_id_list": "10430867;10982862;11027153;11111046;11237011;12403464;15861136;15870694;15994936;16043508;16424344;16959974;17071714;18567810;19017811;19414587;19651622;20123966;20308323;20354154;20584901;21059936;21131277;22344696;22591353;22995836;23042678;23048041;23186163;23381944;23604283;24126054;24204302;24901367;25053765;25261850;25404562;25576301;25892735;25916855;26160102;26310293;26526202;26535115;27055666;28514659;28832583;29242379;31481669;31844290;32213595;32387766;32392304;32488085;33912179;35051231;36610787;38950903;9430663;9851972", "class_list": "", "function": "Functional characterization of the human tRNA methyltransferases TRMT10A and TRMT10B., [RefSeq, PubMed]; S-adenosyl-L-methionine-dependent guanine N(1)-methyltransferase that catalyzes the formation of N(1)-methylguanine at position 9 (m1G9) in tRNAs (PubMed:23042678, PubMed:25053765). Probably not able to catalyze formation of N(1)-methyladenine at position 9 (m1A9) in tRNAs (PubMed:23042678)., [UniProtKB, PubMed, PubMed]; TRMT10A dysfunction is associated with abnormalities in glucose homeostasis, short stature and microcephaly., [RefSeq, PubMed]; TRMT10A dysfunction perturbs codon translation of initiator methionine and glutamine and impairs brain functions in mice., [RefSeq, PubMed]; This gene encodes a protein that belongs to the tRNA (Guanine-1)-methyltransferase family. A similar gene in yeast modifies several different tRNA species. Mutations in this gene are associated with microcephaly, short stature, and impaired glucose metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]., [RefSeq]; This is the first study describing the impact of TRMT10A deficiency in mammals, highlighting a role in the pathogenesis of microcephaly and early onset diabetes., [RefSeq, PubMed]; Transcripts with increased m(6)A upon TRMT10A ablation contain an overrepresentation of m(1)G9-containing tRNAs codons read by tRNA(Gln(TTG)), tRNA(Arg(CCG)), and tRNA(Thr(CGT)) These findings collectively reveal the presence of coordinated mRNA and tRNA methylations and demonstrate a mechanism for regulating gene expression through the interactions between mRNA and tRNA modifying enzymes., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "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": "B2R8X7;Q9Y2T9", "ec_number_list": [ { "id": "2.1.1.221", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.221", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "2.1.1.218", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.218", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0000049 tRNA binding;GO:0052905 tRNA (guanosine(9)-N1)-methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0030488 tRNA methylation;GO:0002939 tRNA N1-guanine methylation;GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q8TBZ6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5J7-1", "uniprot_id": [ { "id": "TIM9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5J7", "type": "external" } ], "mass": 10378.0, "length": 89, "protein_name": "Mitochondrial import inner membrane translocase subunit Tim9", "gene_name": "TIMM9", "organism": "Human", "refseq_name": "mitochondrial import inner membrane translocase subunit Tim9 isoform a", "refseq_ac": [ { "id": "NP_001291414", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291414", "type": "external" } ], "gene_names_uniprotkb": "TIMM9; TIM9A; TIM9; TIMM9A", "gene_names_refseq": "TIM9A; TIM9; TIMM9", "protein_names_uniprotkb": "Mitochondrial import inner membrane translocase subunit Tim9", "protein_names_refseq": "mitochondrial import inner membrane translocase subunit Tim9 isoform a; mitochondrial import inner membrane translocase subunit Tim9; translocase of inner mitochondrial membrane 9 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:26520); (R-HSA-1268020); (R-HSA-9837999)", "pathway_count": 3, "publication_count": 84, "publication_id_list": "10552927;10611480;11237011;11489896;11923310;12198491;14623864;14726512;15254020;15522782;15644312;15683237;15870080;16115876;16185709;16387659;16849325;17101804;17297443;17510655;17579211;18174896;18678864;19409522;19453276;19767391;19841671;19962426;20593814;21750375;22262461;22710082;23041349;23201127;23597483;23811401;23931759;24315374;24520911;25315652;26504172;26697887;26923599;26992070;27496948;27642048;27920218;28377575;28396416;28467828;28832583;28834231;29242379;29301859;29508533;29932645;30120231;30192525;30779550;30833945;31327635;31695197;31844290;31848261;31998317;32157095;32357974;32488085;32897882;32938616;33141586;33257573;33912179;33968037;34171305;34704252;34932366;34943861;35051231;35580925;35870450;36629048;37938771;7623837", "class_list": "", "function": "In contrast to yeast, only a small fraction of Tim9-Tim10a-Tim10b complex is in a stable association with Tim22, [RefSeq, PubMed]; Mitochondrial intermembrane chaperone that participates in the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. May also be required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space., [UniProtKB, PubMed]; Mitochondrial intermembrane chaperone that participates in the import and insertion of some multi-pass transmembrane proteins into the mitochondrial inner membrane. Also required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; TIMM9 belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane.[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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R584", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042803 protein homodimerization activity;GO:0051087 protein-folding chaperone binding;GO:0032977 membrane insertase activity;GO:0140318 protein transporter activity", "go_cellular_component": "GO:0042719 mitochondrial intermembrane space chaperone complex;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005758 mitochondrial intermembrane space", "go_biological_process": "GO:0015031 protein transport;GO:0045039 protein insertion into mitochondrial inner membrane;GO:0006626 protein targeting to mitochondrion;GO:0007605 sensory perception of sound", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "Q9Y5J7-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UL52-1", "uniprot_id": [ { "id": "TM11E_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UL52", "type": "external" } ], "mass": 47696.0, "length": 423, "protein_name": "Transmembrane protease serine 11E", "gene_name": "TMPRSS11E", "organism": "Human", "refseq_name": "transmembrane protease serine 11E precursor", "refseq_ac": [ { "id": "NP_054777", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054777", "type": "external" } ], "gene_names_uniprotkb": "TMPRSS11E; DESC1; PRO1461; TMPRSS11E2", "gene_names_refseq": "DESC1; TMPRSS11E2; TMPRSS11E", "protein_names_uniprotkb": "Transmembrane protease serine 11E; 3.4.21.-; Serine protease DESC1; Transmembrane protease serine 11E2", "protein_names_refseq": "serine protease DESC1; transmembrane protease serine 11E precursor; transmembrane protease serine 11E2; transmembrane protease, serine 11E", "tax_id": 9606, "disease": "", "pathway": " (hsa:28983)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11161383;11237011;12975309;14696115;17388811;25122802;26856390;29557506;35580925;35951670", "class_list": "", "function": "DESC1 may suppress esophageal squamous cell carcinoma development by sensitizing cells to apoptosis under an apoptotic stimulus through downregulating the EGFR/AKT signaling pathway., [RefSeq, PubMed]; Elevated expression of the membrane-anchored serine protease TMPRSS11E in NSCLC progression., [RefSeq, PubMed]; Serine protease which possesses both gelatinolytic and caseinolytic activities. Shows a preference for Arg in the P1 position., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Study demonstrates that two cellular serine proteases, DESC1 and MSPL, activate influenza viruses and emerging coronaviruses in cell culture and, because of their expression in human lung tissue, might promote viral spread in the infected host, [RefSeq, PubMed]; The domain of DESC1 exhibits a trypsin-like serine proteinase fold with a thrombin-like S1 pocket, a urokinase-type plasminogen activator-type S2 pocket, to accept small residues, and an open hydrophobic S3/S4 cavity to accept large hydrophobic residues., [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": 27, "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": "A6NL71;Q14DC8;Q6UW31", "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:0005886 plasma membrane", "go_biological_process": "GO:0006508 proteolysis;GO:0016485 protein processing;GO:0050890 cognition", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q9UL52-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BYE2-1", "uniprot_id": [ { "id": "TMPSD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BYE2", "type": "external" } ], "mass": 63167.0, "length": 586, "protein_name": "Transmembrane protease serine 13", "gene_name": "TMPRSS13", "organism": "Human", "refseq_name": "transmembrane protease serine 13 isoform 1", "refseq_ac": [ { "id": "NP_001070731", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070731", "type": "external" } ], "gene_names_uniprotkb": "TMPRSS13; MSP; TMPRSS11", "gene_names_refseq": "MSPL; MSPS; MSP; TMPRSS11; TMPRSS13", "protein_names_uniprotkb": "Transmembrane protease serine 13; 3.4.21.-; Membrane-type mosaic serine protease; Mosaic serine protease", "protein_names_refseq": "membrane-type mosaic serine protease; transmembrane protease serine 13 isoform 1; transmembrane protease, serine 11; transmembrane protease, serine 13", "tax_id": 9606, "disease": "", "pathway": " (hsa:84000)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11237011;11267681;17981585;20219906;20977675;28710277;29242379;30620550;32502341;32868877;33671076;33820827;34019948;34562451;35051231;35796294;36131918", "class_list": "", "function": "Cloning of MSPL/TMPRSS13, which may play roles in the proteolytic processing of prohormones, precursors of growth factors, and also play roles in the pathogenicity of many viruses and bacteria in vivo Publication Status: Online-Only, [RefSeq, PubMed]; Crystal structure of inhibitor-bound human MSPL that can activate high pathogenic avian influenza. Publication Status: Online-Only, [RefSeq, PubMed]; IL4I1 binds to TMPRSS13 and competes with SARS-CoV-2 spike. Publication Status: Online-Only, [RefSeq, PubMed]; Posttranslational modifications of serine protease TMPRSS13 regulate zymogen activation, proteolytic activity, and cell surface localization., [RefSeq, PubMed]; Results suggest that TMPRSS13 functions as an HGF-converting protease, the activity of which may be regulated by HAI-1, [RefSeq, PubMed]; Serine protease (PubMed:20977675, PubMed:28710277, PubMed:34562451). Cleaves the proform of PRSS8/prostasin to form the active protein (PubMed:34562451). Cleaves the proform of HGF to form the active protein which promotes MAPK signaling (PubMed:20977675). Promotes the formation of the stratum corneum and subsequently the epidermal barrier in embryos (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; TMPRSS11D and TMPRSS13 Activate the SARS-CoV-2 Spike Protein. Publication Status: Online-Only, [RefSeq, PubMed]; The authors report that serine proteases, MSPL and its splice variant TMPRSS13, are novel candidates for proteases processing HA proteins of highly pathogenic avian influenza (HPAI) viruses., [RefSeq, PubMed]; The cell-surface anchored serine protease TMPRSS13 promotes breast cancer progression and resistance to chemotherapy., [RefSeq, PubMed]; This gene encodes a member of the type II transmembrane serine protease family. The encoded protein contains a type II transmembrane domain, a receptor class A domain, a scavenger receptor cysteine-rich domain and a protease domain. Transmembrane serine proteases are regulated by protease inhibitors and known to function in development, homeostasis, infection, and tumorigenesis. This protein facilitates entry of viruses into host cells by proteolytically cleaving and activating viral envelope glycoproteins. [provided by RefSeq, Aug 2021]., [RefSeq]", "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": 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": 10, "reported_glycation": 0, "reported_snv": 36, "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": "B4DTM9;E9PIJ5;E9PRA0;F8WAJ3;J3KQC6;Q1RMF8;Q86YM4;Q96JY8;Q9BYE1", "ec_number_list": [], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0072562 blood microparticle", "go_biological_process": "GO:0016485 protein processing", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q9BYE2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UXY8-1", "uniprot_id": [ { "id": "TMC5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UXY8", "type": "external" } ], "mass": 114797.0, "length": 1006, "protein_name": "Transmembrane channel-like protein 5", "gene_name": "TMC5", "organism": "Human", "refseq_name": "transmembrane channel-like protein 5 isoform a", "refseq_ac": [ { "id": "NP_001098718", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001098718", "type": "external" } ], "gene_names_uniprotkb": "TMC5; PRO33604", "gene_names_refseq": "TMC5", "protein_names_uniprotkb": "Transmembrane channel-like protein 5", "protein_names_refseq": "transmembrane channel-like protein 5 isoform a; transmembrane channel-like protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:79838)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;12812529;12906855;12975309;18649358;29393594;29557506;31356847;33968037;33981976;35051231;35580925;36284347;37217939", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Probable component of an ion channel (Probable). Molecular function hasn't been characterized yet (Probable)., [UniProtKB]; This findings revealed that TMC5 promoted prostate cancer cell proliferation through cell cycle regulation and could be a powerful and hopeful target for prostate cancer treatment., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q68DK8;Q8IY20;Q8NHV6;Q9H8I7", "ec_number_list": [], "go_molecular_function": "GO:0008381 mechanosensitive monoatomic ion channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q6UXY8-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2C9-1", "uniprot_id": [ { "id": "TLR6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2C9", "type": "external" } ], "mass": 91880.0, "length": 796, "protein_name": "Toll-like receptor 6", "gene_name": "TLR6", "organism": "Human", "refseq_name": "toll-like receptor 6 precursor", "refseq_ac": [ { "id": "NP_006059", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006059", "type": "external" } ], "gene_names_uniprotkb": "TLR6", "gene_names_refseq": "CD286; TLR6", "protein_names_uniprotkb": "Toll-like receptor 6", "protein_names_refseq": "toll-like receptor 6 precursor", "tax_id": 9606, "disease": "infective endocarditis (Disease Ontology:DOID:0060000); aspergillosis (Disease Ontology:DOID:13564); alcohol use disorder (Disease Ontology:DOID:1574); asthma (Disease Ontology:DOID:2841); pulmonary tuberculosis (Disease Ontology:DOID:2957); tuberculosis (Disease Ontology:DOID:399); glucose metabolism disease (Disease Ontology:DOID:4194); rhinitis (Disease Ontology:DOID:4483); primary immunodeficiency disease (Disease Ontology:DOID:612); collagen disease (Disease Ontology:DOID:854); perinatal necrotizing enterocolitis (Disease Ontology:DOID:8677); bacterial pneumonia (Disease Ontology:DOID:874)", "pathway": " (hsa:10333); (R-HSA-1236974); (R-HSA-166058); (R-HSA-168188); (R-HSA-5602498); (R-HSA-5603041); (R-HSA-5686938); (R-HSA-9833110)", "pathway_count": 8, "publication_count": 129, "publication_id_list": "10.1101/2023.09.13.557529;10231569;10364168;10426996;10465784;10490993;10549626;11123271;11237011;11441107;11509636;11544529;11607032;11724772;11960013;12110890;12138165;12140561;12214235;12297423;12447441;12447442;12637671;12724322;12817025;14625308;14976261;14977973;15585605;15944945;16024789;16213021;16439361;16751103;16754682;16834340;16855214;16878026;16880211;17141195;17485511;17726518;17767165;17878161;17878374;17890055;17893200;18070880;18070982;18178856;18354232;18420935;18438411;18559343;18669862;18692471;18810425;18829464;18990700;19112167;19217269;19224918;19498957;19506249;19509286;19592493;19592497;20037584;20410276;20473308;20485341;20966070;21606490;21618349;21871094;22090124;22153078;22344226;22454496;22489132;23446148;23613522;24316379;24833748;24840642;25083866;25088687;25502872;25854864;25880347;27742543;28218747;28228285;28467828;28514659;28904123;29437277;29769354;30115681;30315122;30410026;30573663;31608988;31844290;32350084;32387766;32938616;32983136;33141586;33298915;33717175;33912179;34275341;34357683;34509645;34563610;34932366;35051231;35494241;36010968;36102648;37217939;37232814;37938771;38885924;7685021;8837778;9008162;9430229", "class_list": "", "function": "Bifidobacterium bifidum Strain BB1 Inhibits Tumor Necrosis Factor-alpha-Induced Increase in Intestinal Epithelial Tight Junction Permeability via Toll-Like Receptor-2/Toll-Like Receptor-6 Receptor Complex-Dependent Stimulation of Peroxisome Proliferator-Activated Receptor gamma and Suppression of NF-kappaB p65., [RefSeq, PubMed]; High TLR6 Expression Status Predicts a More Favorable Prognosis after Esophagectomy for Locally Advanced Thoracic Esophageal Squamous Cell Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Participates in the innate immune response to Gram-positive bacteria and fungi. Specifically recognizes diacylated and, to a lesser extent, triacylated lipopeptides (PubMed:20037584). In response to diacylated lipopeptides, forms the activation cluster TLR2:TLR6:CD14:CD36, this cluster triggers signaling from the cell surface and subsequently is targeted to the Golgi in a lipid-raft dependent pathway (PubMed:16880211). Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response. 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 TLR2 (PubMed:11441107). In complex with TLR4, promotes sterile inflammation in monocytes/macrophages in response to oxidized low-density lipoprotein (oxLDL) or amyloid-beta 42. In this context, the initial signal is provided by oxLDL- or amyloid-beta 42-binding to CD36. This event induces the formation of a heterodimer of TLR4 and TLR6, which is rapidly internalized and triggers inflammatory response, leading to the NF-kappa-B-dependent production of CXCL1, CXCL2 and CCL9 cytokines, via MYD88 signaling pathway, and CCL5 cytokine, via TICAM1 signaling pathway, as well as IL1B secretion (PubMed:11441107, PubMed:20037584)., [UniProtKB, PubMed, PubMed, PubMed]; Synergistic effect of genetic polymorphisms in TLR6 and TLR10 genes on the risk of pulmonary tuberculosis in a Moldavian population., [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 (PAMPs) 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. This receptor functionally interacts with toll-like receptor 2 to mediate cellular response to bacterial lipoproteins. A Ser249Pro polymorphism in the extracellular domain of the encoded protein may be associated with an increased of asthma is some populations.[provided by RefSeq, Jan 2011]., [RefSeq]; Variants of Toll-like receptor 6 associated with tuberculosis susceptibility in the Chinese Tibetan population., [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": 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": 3, "reported_glycation": 0, "reported_snv": 33, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 12, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "B3Y640;B6CH35;B6RFS4;B6RFS5;Q2NKL3", "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:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0043235 receptor complex;GO:0045121 membrane raft;GO:0030670 phagocytic vesicle membrane", "go_biological_process": "GO:0046209 nitric oxide metabolic process;GO:0043032 positive regulation of macrophage activation;GO:0034136 negative regulation of toll-like receptor 2 signaling pathway;GO:0042496 detection of diacyl bacterial lipopeptide;GO:0001774 microglial cell activation", "synthesized_glycan_count": 0, "hit_score": 13.4, "record_id": "Q9Y2C9-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NV66-1", "uniprot_id": [ { "id": "TYW1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NV66", "type": "external" } ], "mass": 83702.0, "length": 732, "protein_name": "S-adenosyl-L-methionine-dependent tRNA 4-demethylwyosine synthase TYW1", "gene_name": "TYW1", "organism": "Human", "refseq_name": "S-adenosyl-L-methionine-dependent tRNA 4-demethylwyosine synthase TYW1", "refseq_ac": [ { "id": "NP_060734", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060734", "type": "external" } ], "gene_names_uniprotkb": "TYW1; RSAFD1", "gene_names_refseq": "RSAFD1; TYW1A; TYW1; YPL207W", "protein_names_uniprotkb": "S-adenosyl-L-methionine-dependent tRNA 4-demethylwyosine synthase TYW1; 4.1.3.44; Radical S-adenosyl methionine and flavodoxin domain-containing protein 1; tRNA wybutosine-synthesizing protein 1 homolog; tRNA-yW-synthesizing protein", "protein_names_refseq": "S-adenosyl-L-methionine-dependent tRNA 4-demethylwyosine synthase TYW1; radical S-adenosyl methionine and flavodoxin domain-containing protein 1; radical S-adenosyl methionine and flavodoxin domains 1; tRNA wybutosine-synthesizing protein 1 homolog; tRNA-yW synthesizing protein 1 homolog A", "tax_id": 9606, "disease": "", "pathway": " (hsa:55253); (R-HSA-6782861)", "pathway_count": 2, "publication_count": 32, "publication_id_list": "11237011;15248782;20739293;20972222;22761755;23887145;26024233;26154972;26811146;26992070;28218747;28904123;29437277;29493099;29557506;30379171;30410026;31217245;31844290;32157095;32357974;32387766;32502341;32897882;32938616;33298915;33717175;34357683;34509645;35051231;35580925;36581221", "class_list": "", "function": "Involved in the biosynthesis of wybutosine, a hyper modified guanosine with a tricyclic base located at position 37 of eukaryotic phenylalanine tRNA (tRNA(Phe)) that contributes to maintenance of the translational reading frame. Catalyzes the condensation of N-methylguanine with 2 carbon atoms from pyruvate to form the tricyclic 4-demethylwyosine, an intermediate in wybutosine biosynthesis., [UniProtKB, UniProtKB]; Wybutosine (yW) is a hypermodified guanosine found in phenylalanine tRNA adjacent to the anticodon that stabilizes codon-anticodon interactions in the ribosome. In yeast, the homolog of this gene is essential for the synthesis of wybutosine. Alternative splicing results in multiple transcript variants. [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": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6PJG8;Q75MG8;Q75MN3;Q86V12;Q8IVS7;Q9H9C4", "ec_number_list": [ { "id": "4.1.3.44", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.3.44", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0051539 4 iron, 4 sulfur cluster binding;GO:0010181 FMN binding;GO:0102521 tRNA-4-demethylwyosine synthase activity", "go_cellular_component": "", "go_biological_process": "GO:0031591 wybutosine biosynthetic process;GO:0008033 tRNA processing", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q9NV66-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NYL9-1", "uniprot_id": [ { "id": "TMOD3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NYL9", "type": "external" } ], "mass": 39595.0, "length": 352, "protein_name": "Tropomodulin-3", "gene_name": "TMOD3", "organism": "Human", "refseq_name": "tropomodulin-3", "refseq_ac": [ { "id": "NP_055362", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055362", "type": "external" } ], "gene_names_uniprotkb": "TMOD3", "gene_names_refseq": "TMOD3; UTMOD", "protein_names_uniprotkb": "Tropomodulin-3; U-Tmod; Ubiquitous tropomodulin", "protein_names_refseq": "tropomodulin 3 (ubiquitous); tropomodulin-3; ubiquitous tropomodulin", "tax_id": 9606, "disease": "", "pathway": " (hsa:29766); (R-HSA-390522); (R-HSA-9013418); (R-HSA-9696264)", "pathway_count": 4, "publication_count": 109, "publication_id_list": "10662549;10747208;11237011;11940653;12707310;12842009;15095301;15107402;15738000;17012745;17322306;17928307;18452278;18669648;18835386;18991276;18996843;19413330;19415658;19651622;19664994;20068231;20166139;20811643;21406692;23186163;23301498;23481700;24275569;24366607;24608665;24714562;25575350;25576301;25645385;26154972;26280982;26728094;26768311;26969432;26992070;27543614;27600516;27846572;27862975;27920218;27941885;28228285;28510447;28649982;28832583;28834231;28904123;29242379;29393594;29485866;29508533;29557506;29632711;29786170;30192525;30315122;30833945;30864730;31154438;31217245;31222486;31313392;31530632;31844290;31848261;31871319;31998317;32037094;32157095;32161166;32350084;32387766;32488085;32502341;32897882;32938616;32983136;33091337;33214551;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34561969;35051231;35132862;35251023;35580925;36010968;36215666;36284347;37126682;37563820;37938771;40596516;8649376", "class_list": "", "function": "Blocks the elongation and depolymerization of the actin filaments at the pointed end. The Tmod/TM complex contributes to the formation of the short actin protofilament, which in turn defines the geometry of the membrane skeleton (By similarity)., [UniProtKB]; Capping of actin filament pointed ends by Tmod3 inhibits cell migration and reveal a novel control mechanism for regulation of actin filaments in lamellipodia., [RefSeq, PubMed]; Clinicopathological Characteristics, Prognosis, and Correlated Tumor Cell Function of Tropomodulin-3 in Pancreatic Adenocarcinoma., [RefSeq, PubMed]; Findings show that the pointed-end capping protein Tmod3 contributes to epithelial cell shape within confluent monolayers of polarized epithelial cells, [RefSeq, PubMed]; Levels of TM1, TM2 and TM3 are reduced in human transitional cell carcinoma cells, but significantly upregulated by inhibition of the mitogen-activated protein kinase-signaling pathway, [RefSeq, PubMed]; TMOD3 expression was found to be elevated in liver cancer cells and tissues. In the in vitro experiments, liver cancer cell proliferation, invasion and migration were inhibited by TMOD3 knockdown and promoted by ectopic expression of TMOD3. TMOD3 overexpression activated MAPK/ERK signaling and increased the levels of other targets of this pathway., [RefSeq, PubMed]; The Tmod3 isoform may regulate actin dynamics differently in cells than the previously described tropomodulin isoforms, [RefSeq, PubMed]; These findings reveal that Tmod3 enhances aggressive behavior of hepatocellular carcinoma (HCC) both in vitro and in vivo by interacting with EFGR and by activating the PI3K-AKT signaling pathway. Erratum:[Mol Carcinog. 2022 Sep;61(9):892-893. doi: 10.1002/mc.23444. PMID: 35801417], [RefSeq, PubMed]; Tropomodulins Control the Balance between Protrusive and Contractile Structures by Stabilizing Actin-Tropomyosin 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": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B2R6G7;Q9NT43;Q9NZR0", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0098641 cadherin binding involved in cell-cell adhesion;GO:0005523 tropomyosin binding", "go_cellular_component": "GO:0005856 cytoskeleton;GO:0005912 adherens junction;GO:0005865 striated muscle thin filament;GO:0030016 myofibril;GO:0005737 cytoplasm", "go_biological_process": "GO:0006936 muscle contraction;GO:0007015 actin filament organization;GO:0051694 pointed-end actin filament capping;GO:0030239 myofibril assembly", "synthesized_glycan_count": 0, "hit_score": 11.2, "record_id": "Q9NYL9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0C3-1", "uniprot_id": [ { "id": "TM117_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0C3", "type": "external" } ], "mass": 60185.0, "length": 514, "protein_name": "Transmembrane protein 117", "gene_name": "TMEM117", "organism": "Human", "refseq_name": "transmembrane protein 117 isoform d", "refseq_ac": [ { "id": "NP_001273142", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273142", "type": "external" } ], "gene_names_uniprotkb": "TMEM117", "gene_names_refseq": "TMEM117", "protein_names_uniprotkb": "Transmembrane protein 117", "protein_names_refseq": "transmembrane protein 117 isoform d", "tax_id": 9606, "disease": "", "pathway": " (hsa:84216)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11230166;11237011;20628086;27391701;28285135;30315122;31844290;32157095;33912179;33981976;35051231;36215666", "class_list": "", "function": "Data suggest that transmembrane protein 117 (TMEM117) probably mediates the signalling of mitochondrial membrane potential (DeltaPsim) loss in endoplasmic reticulum (ER) stress-mediated mitochondria cell death., [RefSeq, PubMed]; Involved in endoplasmic reticulum (ER) stress-induced cell death pathway., [UniProtKB, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane", "go_biological_process": "GO:0070059 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q9H0C3-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N7U7-1", "uniprot_id": [ { "id": "TPRX1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N7U7", "type": "external" } ], "mass": 40603.0, "length": 411, "protein_name": "Tetra-peptide repeat homeobox protein 1", "gene_name": "TPRX1", "organism": "Human", "refseq_name": "tetra-peptide repeat homeobox protein 1 isoform 2", "refseq_ac": [ { "id": "NP_940881", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_940881", "type": "external" } ], "gene_names_uniprotkb": "TPRX1", "gene_names_refseq": "TPRX1; TPRX", "protein_names_uniprotkb": "Tetra-peptide repeat homeobox protein 1", "protein_names_refseq": "CRX like homeobox 2; tetra-peptide repeat homeobox 1; tetra-peptide repeat homeobox protein 1 isoform 2; tetra-peptide repeat homeobox protein 1", "tax_id": 9606, "disease": "colorectal adenocarcinoma (Disease Ontology:DOID:0050861)", "pathway": " (hsa:284355); (R-HSA-9819196)", "pathway_count": 2, "publication_count": 19, "publication_id_list": "11237011;22209328;23934149;24278031;24715725;26360614;26951377;27062923;28459456;28459457;31630170;32350084;33141586;34267371;35051231;35251023;35314832;35402882;36074823", "class_list": "", "function": "Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the TPRX homeobox gene family. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor expressed after fertilization required for zygotic genome activation (ZGA), a critical event in early embryonic development during which the developmental control passes from maternally provided mRNAs to the expression of the zygotic genome after fertilization (PubMed:35314832, PubMed:36074823). Binds and activates expression of key ZGA marker genes, such as NANOGNB, ZSCAN4, DUXB, KLF5 and DPPA3 (PubMed:36074823). Binds to regulatory DNA sequences containing a 5'-TAATCC-3' sequence motif (PubMed:36074823)., [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": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A5D8Y3;B2RPL5", "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:0005654 nucleoplasm;GO:0000785 chromatin;GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0160021 maternal-to-zygotic transition of gene expression", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q8N7U7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43280-1", "uniprot_id": [ { "id": "TREA_HUMAN", "url": "https://www.uniprot.org/uniprot/O43280", "type": "external" } ], "mass": 66568.0, "length": 583, "protein_name": "Trehalase", "gene_name": "TREH", "organism": "Human", "refseq_name": "trehalase isoform 2 precursor", "refseq_ac": [ { "id": "NP_001287994", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287994", "type": "external" } ], "gene_names_uniprotkb": "TREH; TREA", "gene_names_refseq": "TREA; TREHD; TREH; TRE", "protein_names_uniprotkb": "Trehalase; 3.2.1.28; Alpha,alpha-trehalase; Alpha,alpha-trehalose glucohydrolase", "protein_names_refseq": "alpha,alpha-trehalose glucohydrolase; trehalase (brush-border membrane glycoprotein); trehalase isoform 2 precursor", "tax_id": 9606, "disease": "diarrhea-vomiting due to trehalase deficiency (MONDO:MONDO:0012803)", "pathway": " (hsa:11181); (R-HSA-189085)", "pathway_count": 2, "publication_count": 41, "publication_id_list": "10769135;11085997;11237011;12547908;12692040;14616060;15299664;16584180;1697585;18824549;19241384;19435888;19955176;20356844;23468175;2452973;26156397;27701424;27862975;28406212;28981117;29393594;30315122;31154438;3227291;32387766;36284347;37074911;3800897;3897250;4737205;5104075;6466686;7487100;7836450;7906143;807575;8773341;8951031;9427547;9446624", "class_list": "glycogene;glycosylhydrolase", "function": "In conclusion, we identified four novel loci (TGFA, PIK3R1, FGFR3 and TREH) and confirmed two loci known to be associated with cartilage thickness.The identified associations were not caused by rare exonic variants. This is the first report linking TGFA to human Osteoarthritis, which may serve as a new target for future therapies. Publication Status: Online-Only, [RefSeq, PubMed]; Intestinal trehalase is probably involved in the hydrolysis of ingested trehalose., [UniProtKB, PubMed, PubMed]; Results suggest a significant association between the RETL1, TREH, and PHLDB1 genes and GBM development in the Han Chinese population Publication Status: Online-Only, [RefSeq, PubMed]; These results indicate that trehalose has anti-apoptotic effects through the suppression of oxidative stress-induced mitochondrial injury and ER stress which is dependent on the promotion of autophagic flux and the induction of selective autophagy Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an enzyme that hydrolyses trehalose, a disaccharide formed from two glucose molecules found mainly in fungi, plants, and insects. A partial duplication of this gene is located adjacent to this locus on chromosome 11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]., [RefSeq]; Variants in TREH control trehalase activity, and although one of these variants is also reproducibly associated with T2D, it is likely that the effect of the SNP on risk of T2D occurs by a mechanism different than affecting trehalase activity., [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": 745, "reported_interactions": 0, "missing_score": 9474, "biomarker_type": "", "glycan_count": 29, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q32MB9;Q53FY8", "ec_number_list": [ { "id": "3.2.1.28", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.28", "type": "external" } ], "go_molecular_function": "GO:0004555 alpha,alpha-trehalase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0098552 side of membrane", "go_biological_process": "GO:0009887 animal organ morphogenesis;GO:0005991 trehalose metabolic process;GO:0005993 trehalose catabolic process", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "O43280-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010000.101.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15650-1", "uniprot_id": [ { "id": "TRIP4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15650", "type": "external" } ], "mass": 66146.0, "length": 581, "protein_name": "Activating signal cointegrator 1", "gene_name": "TRIP4", "organism": "Human", "refseq_name": "activating signal cointegrator 1 isoform 2", "refseq_ac": [ { "id": "NP_001308853", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308853", "type": "external" } ], "gene_names_uniprotkb": "TRIP4; RQT4", "gene_names_refseq": "ASC-1; ASC1; HsT17391; MDCDC; SMABF1; TRIP4; ZC2HC5", "protein_names_uniprotkb": "Activating signal cointegrator 1; ASC-1; TR-interacting protein 4; TRIP-4; Thyroid receptor-interacting protein 4", "protein_names_refseq": "TR-interacting protein 4; TRIP-4; activating signal cointegrator 1 isoform 2; activating signal cointegrator 1; thyroid receptor-interacting protein 4; zinc finger, C2HC5-type", "tax_id": 9606, "disease": "spinal muscular atrophy with congenital bone fractures 1 (MONDO:MONDO:0014806); congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome (MONDO:MONDO:0014896)", "pathway": " (hsa:9325); (R-HSA-9954716)", "pathway_count": 2, "publication_count": 82, "publication_id_list": "10454579;11237011;12077347;12390891;15592455;18669648;20068231;20873783;23186163;23481700;24366607;24714562;25219498;25576301;26154972;26375851;26728094;26758079;26924529;26992070;27008887;27397612;27600516;27862975;28065601;28132843;28218747;28685749;28832583;28834231;29242379;29393594;29437277;29557506;29632711;29786170;30293783;30315122;30410026;30429286;30524438;31154438;31799605;31844290;31848261;31937595;31998317;32099016;32157095;32387766;32488085;32502341;32579943;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33912179;33968037;33981976;34087483;34171305;34204919;34405274;34509645;34932366;35051231;35276412;35580925;36215666;36241641;36284347;36302773;37718780;37938771;38582862;40914422;7776974", "class_list": "", "function": "ASC1 complex related conditions: Two novel paediatric patients with TRIP4 pathogenic variants and review of literature. Review article, [RefSeq, PubMed]; Inherited Defects of the ASC-1 Complex in Congenital Neuromuscular Diseases. Review article Publication Status: Online-Only, [RefSeq, PubMed]; LINC00668 promoted non-small lung cancer progression by miR-518c-3p/TRIP4 axis., [RefSeq, PubMed]; Structure and mechanisms of transport of human Asc1/CD98hc amino acid transporter. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a subunit of the tetrameric nuclear activating signal cointegrator 1 (ASC-1) complex, which associates with transcriptional coactivators, nuclear receptors and basal transcription factors to facilitate nuclear receptors-mediated transcription. This protein is localized in the nucleus and contains an E1A-type zinc finger domain, which mediates interaction with transcriptional coactivators and ligand-bound nuclear receptors, such as thyroid hormone receptor and retinoid X receptor alpha, but not glucocorticoid receptor. Mutations in this gene are associated with spinal muscular atrophy with congenital bone fractures-1 (SMABF1). [provided by RefSeq, Apr 2016]., [RefSeq]; Transcription coactivator which associates with nuclear receptors, transcriptional coactivators including EP300, CREBBP and NCOA1, and basal transcription factors like TBP and TFIIA to facilitate nuclear receptors-mediated transcription (PubMed:10454579, PubMed:25219498). May thereby play an important role in establishing distinct coactivator complexes under different cellular conditions (PubMed:10454579, PubMed:25219498). Plays a role in thyroid hormone receptor and estrogen receptor transactivation (PubMed:10454579, PubMed:25219498). Also involved in androgen receptor transactivation (By similarity). Plays a pivotal role in the transactivation of NF-kappa-B, SRF and AP1 (PubMed:12077347). Acts as a mediator of transrepression between nuclear receptor and either AP1 or NF-kappa-B (PubMed:12077347). May play a role in the development of neuromuscular junction (PubMed:26924529). May play a role in late myogenic differentiation (By similarity). Also functions as part of the RQC trigger (RQT) complex that activates the ribosome quality control (RQC) pathway, a pathway that degrades nascent peptide chains during problematic translation (PubMed:32099016, PubMed:32579943, PubMed:36302773)., [UniProtKB, 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B2RAS0;Q96ED7;Q9UKH0", "ec_number_list": [], "go_molecular_function": "GO:0002020 protease binding;GO:0003713 transcription coactivator activity;GO:0008270 zinc ion binding;GO:0019901 protein kinase binding;GO:0030331 nuclear estrogen receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol", "go_biological_process": "GO:0072344 rescue of stalled ribosome;GO:0032790 ribosome disassembly;GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "Q15650-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z404-2", "uniprot_id": [ { "id": "TMC4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z404", "type": "external" } ], "mass": 79208.0, "length": 712, "protein_name": "Voltage-gated chloride channel TMC4", "gene_name": "TMC4", "organism": "Human", "refseq_name": "voltage-gated chloride channel TMC4 isoform 1", "refseq_ac": [ { "id": "NP_001138775", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138775", "type": "external" } ], "gene_names_uniprotkb": "TMC4", "gene_names_refseq": "TMC4", "protein_names_uniprotkb": "Voltage-gated chloride channel TMC4; Transmembrane channel-like protein 4", "protein_names_refseq": "testicular tissue protein Li 204; transmembrane channel-like protein 4; voltage-gated chloride channel TMC4 isoform 1; voltage-gated chloride channel TMC4", "tax_id": 9606, "disease": "", "pathway": " (hsa:147798)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "12812529;12906855;24715725;25645385;26850495;29242379;29557506;29572551;29786170;29789417;31844290;32938616;33141586;33392160;34087483;34185709;34429071;34468713;35051231;35318648;35494241;35580925;36215666;39894887", "class_list": "", "function": "Report no association between the TMC4 rs641738 variant and the development and severity of NAFLD in individuals of European descent., [RefSeq, PubMed]; This study explored the role of rs641738 C/T located in TMC4 exon 1 (p.Gly17Glu) and 500 bases- downstream of MBOAT7 gene (TMC4/MBOAT7), in the genetic risk for developing nonalcoholic fatty liver disease (NAFLD). No evidence was found of association between rs641738 and either NAFLD (Cochran-Armitage test for trend, p = 0.529) or the disease severity (p = 0.61). Publication Status: Online-Only, [RefSeq, PubMed]; Voltage-gated chloride channel involved in high-concentration salt taste sensation (PubMed:34429071, PubMed:34468713). Depolarization induced by high NaCl concentration may trigger the activation of TMC4-mediated chloride influx into taste bud cells, helping the return to resting potential (PubMed:34429071). Also allows permeation of organic anions including gluconate, but their current amplitudes at positive potentials are less than that of chloride (PubMed:34429071). Involved in pH and temperature-dependent modulation of salty taste (PubMed:34468713)., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q7Z5M3;Q8N5E4;Q8TBS7", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "1.8.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" } ], "go_molecular_function": "GO:0005247 voltage-gated chloride channel activity;GO:0008381 mechanosensitive monoatomic ion channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q7Z404-2", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BQ16-3", "uniprot_id": [ { "id": "TICN3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BQ16", "type": "external" } ], "mass": 49429.0, "length": 436, "protein_name": "Testican-3", "gene_name": "SPOCK3", "organism": "Human", "refseq_name": "testican-3 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001035249", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035249", "type": "external" } ], "gene_names_uniprotkb": "SPOCK3; PRO771; TICN3", "gene_names_refseq": "HSAJ1454; SPOCK3; TES-3; TICN3", "protein_names_uniprotkb": "Testican-3; SPARC/osteonectin, CWCV, and Kazal-like domains proteoglycan 3", "protein_names_refseq": "SPARC/osteonectin, cwcv and kazal like domains proteoglycan 3; sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3; testican-3 isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:50859); (R-HSA-1592389)", "pathway_count": 2, "publication_count": 50, "publication_id_list": "10.1038/emboj.2013.79;11751414;11830519;12975309;1311314;1371271;1390635;1480033;1783204;18702456;19144404;2159879;2169257;2176865;2269296;23584533;2383557;24292267;2546891;2551898;2557753;29557506;3058116;35051231;37563543;38856164;39392048;4216367;6263256;7669817;7746327;7780967;7826345;7890645;7896811;7981201;8015608;8194591;8314771;8530478;8576151;8621565;8645182;8663255;8804434;9261109;9346290;9422744;9578462;9632662", "class_list": "glycogene", "function": "High expression of testican 3 is associated with adult T-cell leukemia., [RefSeq, PubMed]; May participate in diverse steps of neurogenesis. Inhibits the processing of pro-matrix metalloproteinase 2 (MMP-2) by MT1-MMP and MT3-MMP. May interfere with tumor invasion., [UniProtKB]; Mechanism of prognostic marker SPOCK3 affecting malignant progression of prostate cancer and construction of prognostic model. Publication Status: Online-Only, [RefSeq, PubMed]; Proteins linking APOE varepsilon4 with Alzheimer's disease., [RefSeq, PubMed]; SPOCK: Master regulator of malignant tumors (Review). Review article, [RefSeq, PubMed]; The results of this study suggest that SPOCK3 may modify the genetic risk for Attention-deficit/hyperactivity disorder and personality disorders, [RefSeq, PubMed]; This gene encodes a member of a novel family of calcium-binding proteoglycan proteins that contain thyroglobulin type-1 and Kazal-like domains. The encoded protein and may play a role in adult T-cell leukemia by inhibiting the activity of membrane-type matrix metalloproteinases. Alternatively spliced transcript variants encoding multiple isoforms have been observed 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": 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": 667, "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": "B2R7M7;B3KR67;B4DGK5;B4DHB4;B4DHV3;B4DI46;B4DJY3;E7EP61;F5H099;O75705;Q6UW53;Q96Q26", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0005539 glycosaminoglycan binding;GO:0008191 metalloendopeptidase inhibitor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0140150 gel phase of interstitial matrix", "go_biological_process": "GO:0010951 negative regulation of endopeptidase activity;GO:2000146 negative regulation of cell motility;GO:0010810 regulation of cell-substrate adhesion", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q9BQ16-3", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JTD0-1", "uniprot_id": [ { "id": "TJAP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JTD0", "type": "external" } ], "mass": 61821.0, "length": 557, "protein_name": "Tight junction-associated protein 1", "gene_name": "TJAP1", "organism": "Human", "refseq_name": "tight junction-associated protein 1 isoform a", "refseq_ac": [ { "id": "NP_001139488", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139488", "type": "external" } ], "gene_names_uniprotkb": "TJAP1; PILT; TJP4", "gene_names_refseq": "PILT; TJAP1; TJP4", "protein_names_uniprotkb": "Tight junction-associated protein 1; Protein incorporated later into tight junctions; Tight junction protein 4", "protein_names_refseq": "protein incorporated later into tight junctions; tight junction associated protein 1 (peripheral); tight junction protein 4 (peripheral); tight junction-associated protein 1 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:93643)", "pathway_count": 1, "publication_count": 52, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11602598;16964243;18088087;18669648;19690332;20068231;21406692;22645359;23186163;23481700;24275569;24714562;25576301;25645385;26992070;27846572;27862975;28467828;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632711;29786170;30429286;31154438;31217245;31844290;31848261;31998317;32157095;32350084;32897882;32938616;32983136;33298915;33392160;33592498;33633747;33691108;33968037;34171305;34561969;35051231;35580925;36010968", "class_list": "", "function": "Plays a role in regulating the structure of the Golgi apparatus., [UniProtKB, UniProtKB]; This gene encodes a tight junction-associated protein. Incorporation of the encoded protein into tight junctions occurs at a late stage of formation of the junctions. The encoded protein localizes to the Golgi and may function in vesicle trafficking. Alternatively spliced transcript variants have been described. A related pseudogene exists on the X chromosome. [provided by RefSeq, Mar 2009]., [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": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "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": "Q05BH9;Q5JTD1;Q5JWW1;Q68DB2;Q6P2P3;Q9H7V7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005768 endosome;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0005923 bicellular tight junction;GO:0005802 trans-Golgi network", "go_biological_process": "GO:0007030 Golgi organization", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q5JTD0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q68CL5-2", "uniprot_id": [ { "id": "TPGS2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q68CL5", "type": "external" } ], "mass": 33318.0, "length": 300, "protein_name": "Tubulin polyglutamylase complex subunit 2", "gene_name": "TPGS2", "organism": "Human", "refseq_name": "tubulin polyglutamylase complex subunit 2 isoform 2", "refseq_ac": [ { "id": "NP_001258878", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258878", "type": "external" } ], "gene_names_uniprotkb": "TPGS2; C18orf10; HMFN0601; L17", "gene_names_refseq": "C18orf10; HMFN0601; L17; PGs2; TPGS2", "protein_names_uniprotkb": "Tubulin polyglutamylase complex subunit 2; PGs2", "protein_names_refseq": "polyglutamylase subunit 2; tubulin polyglutamylase complex subunit 2 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:25941); (R-HSA-8955332)", "pathway_count": 2, "publication_count": 78, "publication_id_list": "1520276;15221005;15334068;15890843;16901895;17244817;17244818;17360631;17499049;18331838;19524510;19531357;20519502;21074048;22645359;23358242;23481700;24397554;25103237;25468068;25576301;25880248;25957412;26154972;26758079;26811146;26992070;27600516;27862975;28218747;28832583;28834231;28904123;29146868;29437277;29493099;29508533;29557506;29786170;30315122;30410026;30484775;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33717175;33912179;33936100;33968037;33981976;34171305;34509645;34782749;34932366;35051231;35318648;35580925;36010968;36241641;37938771;7452228", "class_list": "", "function": "Subunit of the tubulin polyglutamylase complex (TPGC). The complex mediates cilia and flagella polyglutamylation which is essential for their biogenesis and motility., [UniProtKB, PubMed]; This gene encodes a protein that is a component of the neuronal polyglutamylase complex, which plays a role in post-translational addition of glutamate residues to C-terminal tubulin tails. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B4DIX2;K7EIJ9;Q4KN59;Q8WTU3;Q96BT9;Q9Y435", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005874 microtubule;GO:0034451 centriolar satellite", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q68CL5-2", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H497-1", "uniprot_id": [ { "id": "TOR3A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H497", "type": "external" } ], "mass": 46199.0, "length": 397, "protein_name": "Torsin-3A", "gene_name": "TOR3A", "organism": "Human", "refseq_name": "torsin-3A precursor", "refseq_ac": [ { "id": "NP_071766", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071766", "type": "external" } ], "gene_names_uniprotkb": "TOR3A; ADIR", "gene_names_refseq": "ADIR2; ADIR; TOR3A", "protein_names_uniprotkb": "Torsin-3A; ATP-dependent interferon-responsive protein; Torsin family 3 member A", "protein_names_refseq": "ATP-dependant interferon response protein 1; ATP-dependant interferon responsive; ATP-dependent interferon-responsive protein; epididymis secretory sperm binding protein; torsin-3A precursor; torsin-3A", "tax_id": 9606, "disease": "torsion dystonia 1 (Disease Ontology:DOID:0060730); Parkinson's disease (Disease Ontology:DOID:14330); dystonia (Disease Ontology:DOID:543)", "pathway": " (hsa:64222)", "pathway_count": 1, "publication_count": 71, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11863361;20015956;20237496;22645359;23481700;24190977;24397554;24715725;25418920;25576301;25802875;25892735;26811146;26992070;27920218;28218747;28228285;28649982;28832583;28834231;28855257;28904123;29242379;29393594;29437277;29493099;29557506;29769354;29786170;30315122;30410026;30484775;30524438;30779550;31154438;31217245;31747682;31844290;31848261;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32897882;32983136;33298915;33392160;33633747;33691108;33717175;33912179;33936100;33968037;34171305;34185709;34357683;34509645;34561969;35051231;35251023;35580925;36241641;37074911;37938771;39894887;40914422", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Our study identified five new loci associated with VKH susceptibility and identified a functional variant (lnc-TOR3A-1:1/rs3829794) that confers risk for VKH, which is possibly mediated by modulating gene expression, proliferation of lymphocytes, and regulation of anti-inflammatory cytokine 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": 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": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DSY0;B7ZB65;Q5M7Y7;Q8WVA7;Q8WWM2;Q9H495;Q9H6E7", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0070062 extracellular exosome;GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q9H497-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y3B3-1", "uniprot_id": [ { "id": "TMED7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y3B3", "type": "external" } ], "mass": 25172.0, "length": 224, "protein_name": "Transmembrane emp24 domain-containing protein 7", "gene_name": "TMED7", "organism": "Human", "refseq_name": "transmembrane emp24 domain-containing protein 7 precursor", "refseq_ac": [ { "id": "NP_861974", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_861974", "type": "external" } ], "gene_names_uniprotkb": "TMED7; CGI-109", "gene_names_refseq": "CGI-109; TMED7; Tag; p24g3; p24gamma3; p27", "protein_names_uniprotkb": "Transmembrane emp24 domain-containing protein 7; p24 family protein gamma-3; p24gamma3; p27", "protein_names_refseq": "p24 family protein gamma-3; transmembrane emp24 domain-containing protein 7 precursor; transmembrane emp24 domain-containing protein 7; transmembrane emp24 protein transport domain containing 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:100302736); (hsa:51014); (R-HSA-6807878); (R-HSA-6811434)", "pathway_count": 4, "publication_count": 196, "publication_id_list": "10.1101/2023.09.13.557529;10052452;10318838;10359607;10445031;10559959;10679020;10761932;10903204;10921873;11035033;11172815;11237011;11285137;11306556;11461920;11493604;11689559;11703931;11726511;11739780;11748249;12047556;12070132;12237308;12388752;12634853;14504276;14654841;14742712;15029241;15037235;15272311;15616190;15632110;15728195;15813748;15878873;16030262;16303743;1631136;16571679;16633337;16723730;1680566;16912714;16926190;16940185;17113389;17253781;17274799;17360540;17429068;17451557;17760859;17927562;17956946;18086915;18182008;18283113;18287528;18524849;18809720;1898986;19015319;19109418;19151722;19164740;19296914;19369418;1957170;19631211;19758564;20005805;20136777;20357002;20427317;20462495;20534429;20637885;21048031;21219331;21550981;21689688;21844168;21993680;22013193;22094269;22304919;22426228;23396477;23481700;23839779;24119662;24190977;24366607;24714562;24806965;25074978;25364732;25436559;25492864;25576301;25645385;25880248;26375851;26992070;27397612;27543614;27600516;27862975;28218747;28228285;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632711;29741879;29786170;30315122;30410026;30429286;30779550;30833945;31154438;31217245;31222486;31530632;31611695;31844290;31848261;31998317;32119511;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34171305;34357683;34561969;34725712;35051231;35154160;35251023;35318648;35580925;36010968;36241641;36284347;38665916;38838015;7691276;7844144;8001155;8128252;8132710;8221884;8253837;8505331;8620540;8636227;8991093;9114004;9150144;9177194;9244307;9288971;9323141;9380700;9382863;9405360;9490716;9671725;9751720;9990005", "class_list": "", "function": "Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator), [RefSeq, PubMed]; Potential role in vesicular protein trafficking, mainly in the early secretory pathway. Appears to play a role in the biosynthesis of secreted cargo including processing and post-translational modifications., [UniProtKB]; TMED7 is essential for TAG-mediated disruption of the TRAM/TRIF complex and the degradation of toll-like receptor 4 Publication Status: Online-Only, [RefSeq, PubMed]; TMED7 is required to initiate and mediate the delivery of TLR4 to the plasma membrane Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q8NBU8;Q8WUU6;Q96K51", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0030134 COPII-coated ER to Golgi transport vesicle;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0007030 Golgi organization;GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 20.7, "record_id": "Q9Y3B3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BSF4-1", "uniprot_id": [ { "id": "TIM29_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BSF4", "type": "external" } ], "mass": 29233.0, "length": 260, "protein_name": "Mitochondrial import inner membrane translocase subunit Tim29", "gene_name": "TIMM29", "organism": "Human", "refseq_name": "mitochondrial import inner membrane translocase subunit Tim29", "refseq_ac": [ { "id": "NP_612367", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_612367", "type": "external" } ], "gene_names_uniprotkb": "TIMM29; c19orf52", "gene_names_refseq": "C19orf52; TIM29; TIMM29", "protein_names_uniprotkb": "Mitochondrial import inner membrane translocase subunit Tim29; TIM29", "protein_names_refseq": "mitochondrial import inner membrane translocase subunit Tim29; uncharacterized protein C19orf52", "tax_id": 9606, "disease": "Sengers syndrome (Disease Ontology:DOID:0080132)", "pathway": " (hsa:90580)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "11237011;25505266;25880248;26154972;26992070;27554484;27600516;27718247;28218747;28228285;28832583;28834231;29242379;29331515;29437277;30315122;30429286;31530632;31844290;31848261;32157095;32488085;32983136;33125709;33141586;33592498;33968037;33981976;34211107;34561969;36241641;38294104", "class_list": "", "function": "Component of the TIM22 complex, a complex that mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. The TIM22 complex forms a twin-pore translocase that uses the membrane potential as the external driving force. Required for the stability of the TIM22 complex and functions in the assembly of the TIMM22 protein into the TIM22 complex. May facilitate cooperation between TIM22 and TOM complexes by interacting with TOMM40., [UniProtKB, PubMed, PubMed]; Defining the architecture of the human TIM22 complex by chemical crosslinking., [RefSeq, PubMed]; Here, the authors identify Tim29 (C19orf52) as a novel, metazoan-specific subunit of the human TIM22 complex. The protein is integrated into the mitochondrial inner membrane with it's C-terminus exposed to the intermembrane space. Publication Status: Online-Only, [RefSeq, PubMed]; TIM22 and TIM29 inhibit HBV replication by up-regulating SRSF1 expression., [RefSeq, PubMed]; TIM29 is required for the structural integrity of the TIM22 complex and for import of substrate proteins by the carrier translocase, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q96EY6;Q96IT8", "ec_number_list": [], "go_molecular_function": "GO:0140318 protein transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005758 mitochondrial intermembrane space;GO:0042721 TIM22 mitochondrial import inner membrane insertion complex", "go_biological_process": "GO:0015031 protein transport;GO:0045039 protein insertion into mitochondrial inner membrane", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q9BSF4-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43399-1", "uniprot_id": [ { "id": "TPD54_HUMAN", "url": "https://www.uniprot.org/uniprot/O43399", "type": "external" } ], "mass": 22238.0, "length": 206, "protein_name": "Tumor protein D54", "gene_name": "TPD52L2", "organism": "Human", "refseq_name": "tumor protein D54 isoform h", "refseq_ac": [ { "id": "NP_001230821", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230821", "type": "external" } ], "gene_names_uniprotkb": "TPD52L2", "gene_names_refseq": "D54; TPD52L2; TPD54", "protein_names_uniprotkb": "Tumor protein D54; Tumor protein D52-like 2; hD54", "protein_names_refseq": "HCCR-binding protein 2; tumor protein D52 like 2; tumor protein D54 isoform h; tumor protein D54", "tax_id": 9606, "disease": "", "pathway": " (hsa:7165)", "pathway_count": 1, "publication_count": 96, "publication_id_list": "11237011;11549320;16620967;17081983;17287340;17322306;18212344;18452278;18491316;18669648;18691976;18707149;19367720;19413330;19415658;19651622;19664995;19690332;20058876;20068231;20166139;20230923;21406692;22223895;23186163;24275569;24715725;25576301;25645385;25810538;26992070;27600516;27846572;27862975;27920218;28218747;28657654;28832583;28904123;29106517;29237092;29242379;29317506;29351928;29557506;29632046;29786170;29789417;30059200;30315122;30410026;30429286;30620550;31154438;31217245;31373491;31492838;31530632;31844290;31848261;32157095;32350084;32357974;32387766;32574038;32938616;32983136;33141586;33214551;33298915;33392160;33465208;33592498;33912179;33968037;34019948;34185709;34357683;34427635;34509645;35051231;35132862;35154160;35251023;35254053;35318648;35513511;35580925;36010968;36071863;36241641;38665916;39534244;40136647;40596516;9838088", "class_list": "", "function": "Intracellular wetting mediates contacts between liquid compartments and membrane-bound organelles., [RefSeq, PubMed]; Investigation of Transcript Variant 6 of TPD52L2 as a Prognostic and Predictive Biomarker in Basal-Like MDA-MB-231 and MDA-MB-453 Cell Lines for Breast Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; TPD52L2 is an important biomarker influencing glioblastoma prognosis, [RefSeq, PubMed]; The results indicate that tumor protein D52-like 2 genes are not ubiquitously expressed in leukemic bone marrow in children, and that RNA sample parameters may influence measures of gene expression more than commonly appreciated., [RefSeq, PubMed]; This gene encodes a member of the tumor protein D52-like family. These proteins are characterized by an N-terminal coiled-coil motif that is used to form homo- and heteromeric complexes with other tumor protein D52-like proteins. Expression of this gene may be a marker for breast cancer and acute lymphoblastic leukemia. 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 12. [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": 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": 15, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B4DPJ6;E1P5G7;O43398;Q5JWU5;Q5JWU6;Q5JWU8;Q5U0E0;Q9H3Z6", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0042127 regulation of cell population proliferation;GO:0005975 carbohydrate metabolic process", "synthesized_glycan_count": 0, "hit_score": 10.6, "record_id": "O43399-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H3N1-1", "uniprot_id": [ { "id": "TMX1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H3N1", "type": "external" } ], "mass": 31791.0, "length": 280, "protein_name": "Thioredoxin-related transmembrane protein 1", "gene_name": "TMX1", "organism": "Human", "refseq_name": "thioredoxin-related transmembrane protein 1 precursor", "refseq_ac": [ { "id": "NP_110382", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_110382", "type": "external" } ], "gene_names_uniprotkb": "TMX1; PRO268; PSEC0085; TMX; TXNDC1; TXNDC", "gene_names_refseq": "PDIA11; TMX1; TMX; TXNDC1; TXNDC", "protein_names_uniprotkb": "Thioredoxin-related transmembrane protein 1; 5.3.4.1; Protein disulfide-isomerase TMX1; Thioredoxin domain-containing protein 1; Transmembrane Trx-related protein", "protein_names_refseq": "protein disulfide isomerase family A, member 11; protein disulfide-isomerase TMX1; thioredoxin domain containing 1; thioredoxin domain-containing protein 1; thioredoxin-related transmembrane protein 1 precursor; transmembrane Trx-related protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:81542)", "pathway_count": 1, "publication_count": 72, "publication_id_list": "11152479;11237011;11782012;12975309;15302935;16303743;17081983;18088087;18318008;18452278;18491316;18578522;18669648;18691976;18767875;19369195;19413330;19651622;19690332;19741092;20058876;20068231;20166139;20230923;21406692;22045338;22228764;23186163;23481700;24715725;25469497;25505266;25576301;27452731;27502484;27920218;28228285;29242379;29493099;29508533;29932915;30315122;30425049;31154438;31217245;31304984;31844290;32157095;32161166;32350084;32387766;32502341;33043033;33141586;33298915;33691108;33936100;33940944;33968037;34019948;34087483;34171305;34725712;35051231;35251023;35318648;36215666;37648867;38147024;38665916;40307207;40914422", "class_list": "", "function": "TMX family genes and their association with prognosis, immune infiltration, and chemotherapy in human pan-cancer. Erratum:[Aging (Albany NY). 2024 Jun 30;16(12):10666-10667. doi: 10.18632/aging.205990. PMID: 38967984], [RefSeq, PubMed]; TMX1 is enriched on the mitochondria-associated membrane. Targeting TMX to the MAM requires palmitoylation of two membrane-proximal cytosolic cysteines., [RefSeq, PubMed]; These results suggest a specific role for transmembrane thioredoxin-related protein TMX and its mechanism of action in redox-based ER quality control., [RefSeq, PubMed]; Thiol Isomerases Orchestrate Thrombosis and Hemostasis. Review article, [RefSeq, PubMed]; Thioredoxin domain-containing protein that participates in various redox reactions through the reversible oxidation of its active center dithiol to a disulfide and catalyze dithiol-disulfide exchange reactions (PubMed:11152479, PubMed:37648867). Acts as a key inhibitor of the alternative triglyceride biosynthesis pathway by inhibiting the activity of TMEM68/DIESL at the endoplasmic reticulum, thereby restricting accumulation of triacylglycerol (PubMed:37648867). The alternative triglyceride biosynthesis pathway mediates formation of triacylglycerol from diacylglycerol and membrane phospholipids (PubMed:37648867). Acts as a protein disulfide isomerase by catalyzing formation or reduction of disulfide bonds (PubMed:22228764, PubMed:29932915). Specifically mediates formation of disulfide bonds of transmembrane proteins at the endoplasmic reticulum membrane (PubMed:22228764). Involved in endoplasmic reticulum-associated degradation (ERAD) via its protein disulfide isomerase activity by acting on folding-defective polypeptides at the endoplasmic reticulum membrane (PubMed:29932915). Acts as a negative regulator of platelet aggregation following secretion in the extracellular space (PubMed:30425049). Acts as a regulator of endoplasmic reticulum-mitochondria contact sites via its ability to regulate redox signals (PubMed:27502484, PubMed:31304984). Regulates endoplasmic reticulum-mitochondria Ca(2+) flux (PubMed:27502484)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, and one transmembrane domain. Unlike most members of this gene family, it lacks a C-terminal ER-retention sequence. The mature membrane-bound protein can both oxidize and reduce disulfide bonds and acts selectively on membrane-associated polypeptides. [provided by RefSeq, Jan 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R7A4;Q8N487;Q8NBN5;Q9Y4T6", "ec_number_list": [], "go_molecular_function": "GO:0015036 disulfide oxidoreductase activity;GO:0004857 enzyme inhibitor activity;GO:0015035 protein-disulfide reductase activity;GO:0003756 protein disulfide isomerase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005730 nucleolus;GO:0005783 endoplasmic reticulum;GO:0031966 mitochondrial membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0051924 regulation of calcium ion transport;GO:0034976 response to endoplasmic reticulum stress;GO:1904294 positive regulation of ERAD pathway;GO:0010868 negative regulation of triglyceride biosynthetic process;GO:0090331 negative regulation of platelet aggregation", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q9H3N1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43508-1", "uniprot_id": [ { "id": "TNF12_HUMAN", "url": "https://www.uniprot.org/uniprot/O43508", "type": "external" } ], "mass": 27216.0, "length": 249, "protein_name": "Tumor necrosis factor ligand superfamily member 12", "gene_name": "TNFSF12", "organism": "Human", "refseq_name": "tumor necrosis factor ligand superfamily member 12 proprotein", "refseq_ac": [ { "id": "NP_003800", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003800", "type": "external" } ], "gene_names_uniprotkb": "TNFSF12; APO3L; DR3LG; PRO207", "gene_names_refseq": "APO3L; DR3LG; TNF12; TNFSF12; TNLG4A; TWEAK", "protein_names_uniprotkb": "Tumor necrosis factor ligand superfamily member 12; APO3 ligand; TNF-related weak inducer of apoptosis; TWEAK", "protein_names_refseq": "APO3 ligand; APO3/DR3 ligand; TNF-related WEAK inducer of apoptosis; tumor necrosis factor (ligand) superfamily, member 12; tumor necrosis factor ligand 4A; tumor necrosis factor ligand superfamily member 12 proprotein; tumor necrosis factor superfamily member 12", "tax_id": 9606, "disease": "", "pathway": " (hsa:407977); (hsa:8742); (R-HSA-5668541); (R-HSA-5676594)", "pathway_count": 4, "publication_count": 55, "publication_id_list": "10085077;10359578;10797013;11237011;11728344;11853672;12374738;12411489;12529173;12571250;12721620;12787562;12975309;14961121;15084608;15368291;15585864;15644327;15824857;17081983;17636564;18635759;18997792;18997794;19241374;19426221;19815541;20385556;20483727;20610643;21081755;21091114;23667509;24248355;24298274;24432023;25152365;29393594;30459171;37466605;38437928;38932454;38995299;7544915;7639698;8521496;8663299;8702708;9122217;9247583;9367155;9405449;9560343;9718306;9852070", "class_list": "", "function": "Binds to FN14 and possibly also to TNRFSF12/APO3. Weak inducer of apoptosis in some cell types. Mediates NF-kappa-B activation. Promotes angiogenesis and the proliferation of endothelial cells. Also involved in induction of inflammatory cytokines. Promotes IL8 secretion., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Full-length, membrane-anchored TWEAK can function as a juxtacrine signaling molecule and activate the NF-kappaB pathway, [RefSeq, PubMed]; Genetically predicted TWEAK mediates the association between lipidome and Keratinocyte Carcinomas., [RefSeq, PubMed]; Membrane TWEAK is superior to soluble TWEAK with respect to activation of the classical NF-kappa B pathway, whereas both TWEAK variants are potent inducers of TNFR-associated factor-2 depletion, NF-kappaB-inducing kinase accumulation and p100 processing., [RefSeq, PubMed]; Sarcopenia is associated with hypomethylation of TWEAK and increased plasma levels of TWEAK and its downstream inflammatory factor TNF-alpha in older adults: A case-control study., [RefSeq, PubMed]; Sclerostin and TNF-related weak inducer of apoptosis: can they be important in the patients with glomerulonephritis? Publication Status: Online-Only, [RefSeq, PubMed]; The Relationship between Serum TWEAK Levels and Carotid Intima-media Thickness in Patients with Fabry Disease., [RefSeq, PubMed]; The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein is a ligand for the FN14/TWEAKR receptor. This cytokine has overlapping signaling functions with TNF, but displays a much wider tissue distribution. This cytokine, which exists in both membrane-bound and secreted forms, can induce apoptosis via multiple pathways of cell death in a cell type-specific manner. This cytokine is also found to promote proliferation and migration of endothelial cells, and thus acts as a regulator of angiogenesis. Alternative splicing results in multiple transcript variants. Some transcripts skip the last exon of this gene and continue into the second exon of the neighboring TNFSF13 gene; such read-through transcripts are contained in GeneID 407977, TNFSF12-TNFSF13. [provided by RefSeq, Oct 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "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": "Q8IZK7;Q8WUZ7", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005125 cytokine activity;GO:0005164 tumor necrosis factor receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0001525 angiogenesis;GO:0006955 immune response;GO:0007165 signal transduction;GO:0030154 cell differentiation;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "O43508-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NS69-1", "uniprot_id": [ { "id": "TOM22_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NS69", "type": "external" } ], "mass": 15522.0, "length": 142, "protein_name": "Mitochondrial import receptor subunit TOM22 homolog", "gene_name": "TOMM22", "organism": "Human", "refseq_name": "mitochondrial import receptor subunit TOM22 homolog", "refseq_ac": [ { "id": "NP_064628", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064628", "type": "external" } ], "gene_names_uniprotkb": "TOMM22; TOM22", "gene_names_refseq": "1C9-2; MST065; MSTP065; TOM22; TOMM22", "protein_names_uniprotkb": "Mitochondrial import receptor subunit TOM22 homolog; 1C9-2; Translocase of outer membrane 22 kDa subunit homolog; hTom22", "protein_names_refseq": "mitochondrial import receptor Tom22; mitochondrial import receptor subunit TOM22 homolog; translocase of outer membrane 22 kDa subunit homolog; translocase of outer mitochondrial membrane 22 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:56993); (R-HSA-1268020); (R-HSA-5205685)", "pathway_count": 3, "publication_count": 107, "publication_id_list": "10900208;10982837;12198123;14726512;15254020;15644312;15683237;16185709;16849325;17081983;17510655;18174896;18331822;18578522;18669648;18678864;19409522;19413330;19432818;19453276;19651622;19691289;19767391;19962426;20058876;20068231;20126261;20593814;20712405;21115803;21194381;21406692;21617041;21750375;22223895;22544926;23041349;23186163;23481700;23597483;23811401;24660806;24715725;24751536;24784582;25315652;25418920;25474007;25527497;25576301;26116755;26154972;26365381;26697887;26811146;26992070;27035970;27247382;27452731;28228285;28832583;29242379;29393594;29394115;29508533;29632046;29995846;30315122;30484775;31530632;31611695;31844290;32157095;32161166;32296703;32350084;32357974;32387766;32488085;32897882;32938616;33141586;33298915;33392160;33537174;33592498;33691108;33912179;33936100;33968037;34087483;34171305;34211107;34357683;34405274;34433824;34509645;34932366;35051231;35251023;35733257;36010968;36215666;36241641;37878010;38287189;40080546", "class_list": "", "function": "Central receptor component of the translocase of the outer membrane of mitochondria (TOM) complex essential for the recognition and translocation of cytosolically synthesized mitochondrial preproteins (PubMed:40080546). Together with the peripheral receptor TOMM20, functions as the transit peptide receptor and facilitates the movement of preproteins into the translocation pore (PubMed:10982837). The TOM complex associates with the ion channel VDAC2 and PINK1 kinase at depolarized mitochondria, this interaction stabilizes PINK1 at the outer mitochondrial membrane and triggers downstream mitophagy by the recruitment of the E3 ubiquitin ligase PRKN (PubMed:40080546). Required for the translocation across the mitochondrial outer membrane of cytochrome P450 monooxygenases (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; Levels of Tom22 in mitochondria accelerate the rate of Tom7 assembly into the mature TOM complex., [RefSeq, PubMed]; Mitochondrial Translocase TOMM22 Is Overexpressed in Pancreatic Cancer and Promotes Aggressive Growth by Modulating Mitochondrial Protein Import and Function., [RefSeq, PubMed]; Structural basis of Tom20 and Tom22 cytosolic domains as the human TOM complex receptors., [RefSeq, PubMed]; The protein encoded by this gene is an integral membrane protein of the mitochondrial outer membrane. The encoded protein interacts with TOMM20 and TOMM40, and forms a complex with several other proteins to import cytosolic preproteins into the mitochondrion. [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": 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:0008320 protein transmembrane transporter activity;GO:0030943 mitochondrion targeting sequence binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0016020 membrane;GO:0005742 mitochondrial outer membrane translocase complex", "go_biological_process": "GO:0045040 protein insertion into mitochondrial outer membrane;GO:0006886 intracellular protein transport;GO:0006626 protein targeting to mitochondrion;GO:0030150 protein import into mitochondrial matrix", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "Q9NS69-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NDV4-1", "uniprot_id": [ { "id": "TMM8B_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NDV4", "type": "external" } ], "mass": 51941.0, "length": 472, "protein_name": "Transmembrane protein 8B", "gene_name": "TMEM8B", "organism": "Human", "refseq_name": "transmembrane protein 8B isoform a", "refseq_ac": [ { "id": "NP_001036054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036054", "type": "external" } ], "gene_names_uniprotkb": "TMEM8B; C9orf127; NGX6", "gene_names_refseq": "C9orf127; FP588; LINC00950; NAG-5; NAG5; NGX6a; NGX6; TMEM8B", "protein_names_uniprotkb": "Transmembrane protein 8B; Nasopharyngeal carcinoma-associated gene 6 protein; Protein NAG-5; Protein NGX6", "protein_names_refseq": "nasopharyngeal carcinoma expressed 6; nasopharyngeal carcinoma related protein; nasopharyngeal carcinoma-associated gene 6 protein; transmembrane protein 8B isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:51754)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;11565907;12918109;15498789;15723283;17270023;17641538;24715725;25418920;25882097;26261522;26880583;28228285;29243779;31154438;31844290;32387766;32502341;32938616;33300077;34357683;35051231", "class_list": "", "function": "Down-regulation may be closely associated with tumorigenesis and metastasis of colorectal carcinoma; may not contribute to development and progression of gastric carcinoma., [RefSeq, PubMed]; From our analysis, variants in the genes ABCB4, TP53AIP1, ARHGAP32 and TMEM88B were identified linked to the alexithymia phenotype., [RefSeq, PubMed]; May function as a regulator of the EGFR pathway. Probable tumor suppressor which may function in cell growth, proliferation and adhesion., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; NGX6 is lowly expressed in nasopharyngeal carcinoma, and it can inhibit the proliferation and invasion of nasopharyngeal carcinoma cells., [RefSeq, PubMed]; NGX6 plays a role in cell adhesion modulation in NPC cells., [RefSeq, PubMed]; NGX6 possesses various biological functions, such as regulating protein expression of related genes, involving cell signal transduction pathways, negatively controlling cell cycle progression, inhibiting angiogenesis, and increasing the sensitivity of patients to anti-cancer drugs. Review. Review article, [RefSeq, PubMed]; Nasopharyngeal carcinomaassociated gene 6 inhibits cell viability, migration, invasion and induces apoptosis in osteosarcoma cells by inactivating the Wnt/betacatenin signaling pathway., [RefSeq, PubMed]; Ultrasonographic features are associated with NGX6 expression in invasive ductal breast carcinoma. NGX6 is involved in the invasion and metastasis activity of IDBC. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 2, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 3, "binding_glycan_count": 0, "secondary_ac_list": "B3KQF3;O75539;Q49AB1;Q4KMX5;Q5TCW5;Q9HBY2;Q9P0U7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0007160 cell-matrix adhesion;GO:0007346 regulation of mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "A6NDV4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15050-1", "uniprot_id": [ { "id": "TRNK1_HUMAN", "url": "https://www.uniprot.org/uniprot/O15050", "type": "external" } ], "mass": 336221.0, "length": 2925, "protein_name": "TPR and ankyrin repeat-containing protein 1", "gene_name": "TRANK1", "organism": "Human", "refseq_name": "TPR and ankyrin repeat-containing protein 1 isoform 2", "refseq_ac": [ { "id": "NP_055646", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055646", "type": "external" } ], "gene_names_uniprotkb": "TRANK1; KIAA0342; LBA1", "gene_names_refseq": "LBA1; TRANK1", "protein_names_uniprotkb": "TPR and ankyrin repeat-containing protein 1; Lupus brain antigen 1 homolog", "protein_names_refseq": "TPR and ankyrin repeat-containing protein 1 isoform 2; TPR and ankyrin repeat-containing protein 1; lupus brain antigen 1 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:9881)", "pathway_count": 1, "publication_count": 50, "publication_id_list": "11237011;22182935;23481700;24714562;25576301;25892735;26154972;26375851;26992070;27397612;27846572;27862975;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29437277;29493099;29508533;29557506;29632046;29769354;29786170;29789417;30192525;30315122;30379171;30484775;30833945;31154438;31844290;31848261;31937595;32161166;32387766;32502341;32791513;33392160;33592498;33737391;34014031;34185709;34992606;36215666;36284347;39531497;41018975", "class_list": "", "function": "Impaired blood-brain barrier in the microbiota-gut-brain axis: Potential role of bipolar susceptibility gene TRANK1. Review article, [RefSeq, PubMed]; Independent replications and integrative analyses confirm TRANK1 as a susceptibility gene for bipolar disorder., [RefSeq, PubMed]; Kleine-Levin syndrome is associated with birth difficulties and genetic variants in the TRANK1 gene loci., [RefSeq, PubMed]; New Evidence of Gut Microbiota Involvement in the Neuropathogenesis of Bipolar Depression by TRANK1 Modulation: Joint Clinical and Animal Data. Publication Status: Online-Only, [RefSeq, PubMed]; The results of this study suggested that significant novel association signals near the genes TRANK1 and provide supportive evidence for the previously reported association signals near ANK3 and within the 3p21.1 locus. Erratum:[Mol Psychiatry. 2013 Feb;18(2):264-6. Farmer, A [added]; McGuffin, P [added]; Craig, I [added]; Lewis, C [added]; Hosang, G [added]; Cohen-Woods, S [added]; Vincent, J B [added]; Kennedy, J L [added]; Strauss, J [added]], [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": 61, "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": "Q8N8K0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "O15050-1", "record_type": "protein", "filter_code": "0000000.1000101.001000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TDI7-1", "uniprot_id": [ { "id": "TMC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TDI7", "type": "external" } ], "mass": 102610.0, "length": 906, "protein_name": "Transmembrane channel-like protein 2", "gene_name": "TMC2", "organism": "Human", "refseq_name": "transmembrane channel-like protein 2", "refseq_ac": [ { "id": "NP_542789", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_542789", "type": "external" } ], "gene_names_uniprotkb": "TMC2; C20orf145; PRO1928", "gene_names_refseq": "C20orf145; TMC2", "protein_names_uniprotkb": "Transmembrane channel-like protein 2; Transmembrane cochlear-expressed protein 2", "protein_names_refseq": "transmembrane channel-like protein 2; transmembrane cochlear-expressed gene 2; transmembrane cochlear-expressed protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:117532); (R-HSA-9662360); (R-HSA-9662361)", "pathway_count": 3, "publication_count": 16, "publication_id_list": "10025409;10821263;11163272;11237011;11850618;12975309;18077418;18259073;23481700;24715725;25892735;27798174;31154438;31844290;33141586;35051231", "class_list": "", "function": "Autozygosity by descent analysis of 2 markers bordering the TMC2 gene allowed us to rule out its association with deafness within these families., [RefSeq, PubMed]; But the great majority of evidence is consistent with these TMCs as pore-forming subunits of the long-sought hair-cell transduction channel. [review], [RefSeq, PubMed]; Pore-forming subunit of the mechanotransducer (MET) non-selective cation channel complex located at the tips of stereocilia of cochlear hair cells and that mediates sensory transduction in the auditory system (PubMed:11850618). The MET complex is composed of two dimeric pore-forming ion-conducting transmembrane TMC (TMC1 or TMC2) subunits, and aided by several auxiliary proteins including LHFPL5, TMIE, CIB2/3 and TOMT, and the tip-link PCDH15. MET channel is activated by tension in the tip-link extending from the side wall of one stereocilium to the tip of the adjacent shorter stereocilium, where the channel is located (By similarity). TMC2 MET channel is highly permeable to calcium and likely transports monovalent cations. Also involved in vestibular hair cell transduction current of the mammalian inner ear (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB]; This gene encodes a transmembrane protein that is necesssary for mechanotransduction in cochlear hair cells of the inner ear. Mutations in this gene may underlie hereditary disorders of balance and hearing. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 25, "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": "Q5JXT0;Q5JXT1;Q6UWW4;Q6ZS41;Q8N9F3;Q9BYN2;Q9BYN3;Q9BYN4;Q9BYN5", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0005262 calcium channel activity;GO:0008381 mechanosensitive monoatomic ion channel activity;GO:0005245 voltage-gated calcium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0032437 cuticular plate;GO:0032426 stereocilium tip;GO:0032420 stereocilium", "go_biological_process": "GO:0060005 vestibular reflex;GO:0050910 detection of mechanical stimulus involved in sensory perception of sound", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q8TDI7-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z7H5-1", "uniprot_id": [ { "id": "TMED4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z7H5", "type": "external" } ], "mass": 25943.0, "length": 227, "protein_name": "Transmembrane emp24 domain-containing protein 4", "gene_name": "TMED4", "organism": "Human", "refseq_name": "transmembrane emp24 domain-containing protein 4 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001289987", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289987", "type": "external" } ], "gene_names_uniprotkb": "TMED4; ERS25", "gene_names_refseq": "ERS25; GMP25iso; HNLF; TMED4; p24a3; p24alpha3", "protein_names_uniprotkb": "Transmembrane emp24 domain-containing protein 4; ERS25; Endoplasmic reticulum stress-response protein 25; GMP25iso; Putative NF-kappa-B-activating protein 156; p24 family protein alpha-3; p24alpha3", "protein_names_refseq": "endoplasmic reticulum stress-response protein 25 kDa; p24 family protein alpha-3; putative NF-kappa-B-activating protein 156; putative NFkB activating protein HNLF; transmembrane emp24 domain-containing protein 4 isoform 2 precursor; transmembrane emp24 domain-containing protein 4; transmembrane emp24 protein transport domain containing 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:222068)", "pathway_count": 1, "publication_count": 94, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12761501;16112985;18326488;19159218;22424782;23090970;23481700;24190977;24714562;24715725;25418920;25548167;25576301;26154972;26375851;26768311;26992070;27543614;27600516;27846572;27862975;27920218;28218747;28228285;28514659;28832583;28834231;28860189;28904123;29242379;29393594;29437277;29508533;29557506;29632711;29741879;29786170;29789417;30315122;30429286;30484775;30524438;30779550;30833945;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33912179;33968037;33981976;34019948;34171305;34211107;34357683;34405274;34509645;34561969;34725712;34932366;35051231;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37074911;37938771;38253038;38665916;40596516", "class_list": "", "function": "ERS25 may play a critical role in regulation of heat-shock response and apoptosis, [RefSeq, PubMed]; Involved in vesicular protein trafficking, mainly in the early secretory pathway. targeting. Involved in the maintenance of the Golgi apparatus. Appears to play a role in the biosynthesis of secreted cargo including processing. Involved in endoplasmic reticulum stress response. May play a role in the regulation of heat-shock response and apoptosis (By similarity)., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 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": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A4D2K8;B4DFJ4;Q56VW3;Q7Z432;Q8N2P6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0030134 COPII-coated ER to Golgi transport vesicle;GO:0005789 endoplasmic reticulum membrane;GO:0005793 endoplasmic reticulum-Golgi intermediate compartment", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0007030 Golgi organization", "synthesized_glycan_count": 0, "hit_score": 10.5, "record_id": "Q7Z7H5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P28908-1", "uniprot_id": [ { "id": "TNR8_HUMAN", "url": "https://www.uniprot.org/uniprot/P28908", "type": "external" } ], "mass": 63747.0, "length": 595, "protein_name": "Tumor necrosis factor receptor superfamily member 8", "gene_name": "TNFRSF8", "organism": "Human", "refseq_name": "tumor necrosis factor receptor superfamily member 8 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001234", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001234", "type": "external" } ], "gene_names_uniprotkb": "TNFRSF8; CD30; D1S166E", "gene_names_refseq": "CD30; D1S166E; Ki-1; TNFRSF8", "protein_names_uniprotkb": "Tumor necrosis factor receptor superfamily member 8; CD30L receptor; Ki-1 antigen; Lymphocyte activation antigen CD30", "protein_names_refseq": "CD30L receptor; Ki-1 antigen; cytokine receptor CD30; lymphocyte activation antigen CD30; tumor necrosis factor receptor superfamily member 8 isoform 1 precursor; tumor necrosis factor receptor superfamily member 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:943); (R-HSA-5669034)", "pathway_count": 2, "publication_count": 87, "publication_id_list": "10.1038/emboj.2013.79;10074428;10359578;10398604;10484778;10518213;10597252;10615125;11237011;11571266;11882293;11911831;12189164;12557237;12949498;1310894;14656435;15350519;15356117;15470070;16501042;1655907;17632511;18571443;18606301;19690332;20032458;20222921;20307208;20510730;20979233;21300286;21406692;21654843;22197273;22664871;22801960;23186163;23481700;23584533;23719902;24070496;24190977;24715725;25418920;25502872;25810538;27090790;27846572;28467828;28649982;28904123;29242379;29557506;30573663;31611695;31844290;32265295;32350084;32387766;32938616;33298915;33912179;33968037;34078123;34357683;34433824;35051231;35154160;35251023;35494241;37638819;37986346;38211650;38213180;38287746;7527901;7913952;8120384;8391931;8627180;8839832;8871664;8999898;9168896;9511754;9878548", "class_list": "", "function": "CD30 protects EBV-positive diffuse large B-cell lymphoma cells against mitochondrial dysfunction through BNIP3-mediated mitophagy., [RefSeq, PubMed]; Differential expression of BCL11b and CDKN2A in CD30-positive peripheral T cell lymphoma: Retrospective study., [RefSeq, PubMed]; EBV-positive Nodal T-Cell and NK-Cell Lymphoma: A Study of 26 Cases Including a Subset With Strong CD30 Expression Mimicking Anaplastic Large Cell Lymphoma., [RefSeq, PubMed]; Expression and Clinical Significance of CD30 and CD56 in Lymphoblastic Lymphoma: A Retrospective Analysis on Paraffin-Embedded Tissues by Immunohistochemistry., [RefSeq, PubMed]; Receptor for TNFSF8/CD30L (PubMed:8391931). May play a role in the regulation of cellular growth and transformation of activated lymphoblasts. Regulates gene expression through activation of NF-kappa-B (PubMed:8999898)., [UniProtKB, PubMed, PubMed]; The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is expressed by activated, but not by resting, T and B cells. TRAF2 and TRAF5 can interact with this receptor, and mediate the signal transduction that leads to the activation of NF-kappaB. This receptor is a positive regulator of apoptosis, and also has been shown to limit the proliferative potential of autoreactive CD8 effector T cells and protect the body against autoimmunity. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]., [RefSeq]; Variant histology of pediatric nodular lymphocyte-predominant Hodgkin lymphoma with IgD and CD30 expression., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "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": 4, "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": 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": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "B1AN79;B9EGD9;D3YTD8;Q6P4D9", "ec_number_list": [], "go_molecular_function": "GO:0002020 protease binding;GO:0004888 transmembrane signaling receptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0032759 positive regulation of TRAIL production;GO:0007165 signal transduction;GO:0008285 negative regulation of cell population proliferation;GO:0043065 positive regulation of apoptotic process;GO:0032760 positive regulation of tumor necrosis factor production", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "P28908-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100100010001.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NE00-1", "uniprot_id": [ { "id": "S38AC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NE00", "type": "external" } ], "mass": 55679.0, "length": 496, "protein_name": "Putative sodium-coupled neutral amino acid transporter 12", "gene_name": "SLC38A12", "organism": "Human", "refseq_name": "putative sodium-coupled neutral amino acid transporter 12 isoform 2", "refseq_ac": [ { "id": "NP_001308193", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308193", "type": "external" } ], "gene_names_uniprotkb": "SLC38A12; TMEM104", "gene_names_refseq": "SLC38A12; TMEM104", "protein_names_uniprotkb": "Putative sodium-coupled neutral amino acid transporter 12; Solute carrier family 38 member 12", "protein_names_refseq": "putative sodium-coupled neutral amino acid transporter 12 isoform 2; putative sodium-coupled neutral amino acid transporter 12; transmembrane protein 104", "tax_id": 9606, "disease": "", "pathway": " (hsa:54868)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "11237011;17081983;19651622;25502872;26992070;28218747;28228285;28832583;28904123;29242379;29331515;29557506;29786170;30315122;30410026;30429286;30779550;31092671;31154438;31844290;31848261;32157095;32350084;32387766;32488085;33141586;33392160;33912179;33968037;34171305;34185709;34357683;34561969;35051231;35580925;37938771", "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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8TEU1;Q9NT56;Q9NXH1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0006865 amino acid transport;GO:0006814 sodium ion transport", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q8NE00-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13061-1", "uniprot_id": [ { "id": "TRDN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13061", "type": "external" } ], "mass": 81595.0, "length": 729, "protein_name": "Triadin", "gene_name": "TRDN", "organism": "Human", "refseq_name": "triadin isoform 3", "refseq_ac": [ { "id": "NP_001242949", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001242949", "type": "external" } ], "gene_names_uniprotkb": "TRDN", "gene_names_refseq": "CARDAR; CPVT5; TDN; TRDN; TRISK", "protein_names_uniprotkb": "Triadin", "protein_names_refseq": "triadin in skeletal muscle; triadin isoform 3", "tax_id": 9606, "disease": "catecholaminergic polymorphic ventricular tachycardia (Disease Ontology:DOID:0060674); catecholaminergic polymorphic ventricular tachycardia 5 (Disease Ontology:DOID:0060679); dilated cardiomyopathy (Disease Ontology:DOID:12930)", "pathway": " (hsa:10345); (R-HSA-2672351); (R-HSA-5578775)", "pathway_count": 3, "publication_count": 148, "publication_id_list": "10220561;10564087;10642508;10720933;10767424;10830164;10831588;10913253;11062458;11182090;11237011;11588175;11687798;11734858;11842292;11904445;11904675;11956057;12119109;12393854;12659871;12832055;12907679;12953268;1379744;14584882;14634667;15010458;15044642;15147738;15174025;15260953;15318163;15485681;15504734;15505377;15598648;15754088;15916532;15919655;16219661;16754674;16813530;16849430;16850186;1693919;17081983;17224452;17357072;17381423;17448995;17486119;17699613;17881003;17924679;18000046;18025088;18063579;18310267;18400985;18449189;18452278;18508966;18662336;18724360;18995841;19153159;19278978;19307298;19380724;19387438;19413330;19620632;19751721;19808995;19953639;20388639;20388710;20466723;20525693;20538786;21040849;21108950;21527911;21984732;22002868;22210847;2226863;22422768;22427649;22707725;22773952;22946059;22972900;2298749;23112050;2321095;23362265;23549614;23610579;23616951;2430951;24325401;24715725;2477373;2536303;2559024;25994790;26359375;26562072;28071645;28154142;28228285;2838329;28645727;28790369;2953725;29557506;30459171;33633747;35580925;35862102;36215666;37163978;37217939;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": "Cardiomyocyte-Specific Long Noncoding RNA Regulates Alternative Splicing of the Triadin Gene in the Heart., [RefSeq, PubMed]; Cellular and electrophysiological characterization of triadin knockout syndrome using induced pluripotent stem cell-derived cardiomyocytes., [RefSeq, PubMed]; Contributes to the regulation of lumenal Ca2+ release via the sarcoplasmic reticulum calcium release channels RYR1 and RYR2, a key step in triggering skeletal and heart muscle contraction. Required for normal organization of the triad junction, where T-tubules and the sarcoplasmic reticulum terminal cisternae are in close contact (By similarity). Required for normal skeletal muscle strength. Plays a role in excitation-contraction coupling in the heart and in regulating the rate of heart beats., [UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Gene organization and cloning of the major isoform, [RefSeq, PubMed]; This gene encodes an integral membrane protein found in skeletal and cardiac muscle. The encoded protein plays a role in skeletal muscle excitation-contraction coupling as part of the calcium release complex and is required for normal skeletal muscle strength. This protein indirectly links triads and microtubules in skeletal muscle. Mutations in this gene are associated with cardiac arrythmia syndrome and some variants in this gene may be associated with sudden cardiac death. [provided by RefSeq, May 2022]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "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": 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": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A5D6W5;F5H2W7;Q6NSB8", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0030674 protein-macromolecule adaptor activity;GO:0044325 transmembrane transporter binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0014701 junctional sarcoplasmic reticulum membrane;GO:0016529 sarcoplasmic reticulum", "go_biological_process": "GO:0090158 endoplasmic reticulum membrane organization;GO:0006936 muscle contraction;GO:0006874 intracellular calcium ion homeostasis;GO:0060047 heart contraction;GO:0010880 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum", "synthesized_glycan_count": 0, "hit_score": 15.4, "record_id": "Q13061-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100100010001.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z5M5-1", "uniprot_id": [ { "id": "TMC3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z5M5", "type": "external" } ], "mass": 125685.0, "length": 1100, "protein_name": "Transmembrane channel-like protein 3", "gene_name": "TMC3", "organism": "Human", "refseq_name": "transmembrane channel-like protein 3", "refseq_ac": [ { "id": "NP_001074001", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074001", "type": "external" } ], "gene_names_uniprotkb": "TMC3", "gene_names_refseq": "TMC3", "protein_names_uniprotkb": "Transmembrane channel-like protein 3", "protein_names_refseq": "transmembrane channel-like protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:342125)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;12812529;12906855;17924679;23481700;28832583;29242379;29557506;30779550;31844290;35051231;36010968", "class_list": "", "function": "Probable component of an ion channel (Probable). Molecular function hasn't been characterized yet (Probable)., [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 29, "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": "A2RTY2;B2RXJ3;Q7Z405", "ec_number_list": [], "go_molecular_function": "GO:0008381 mechanosensitive monoatomic ion channel activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q7Z5M5-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75762-1", "uniprot_id": [ { "id": "TRPA1_HUMAN", "url": "https://www.uniprot.org/uniprot/O75762", "type": "external" } ], "mass": 127501.0, "length": 1119, "protein_name": "Transient receptor potential cation channel subfamily A member 1", "gene_name": "TRPA1", "organism": "Human", "refseq_name": "transient receptor potential cation channel subfamily A member 1", "refseq_ac": [ { "id": "NP_015628", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_015628", "type": "external" } ], "gene_names_uniprotkb": "TRPA1; ANKTM1", "gene_names_refseq": "ANKTM1; FEPS1; FEPS; TRPA1; p120", "protein_names_uniprotkb": "Transient receptor potential cation channel subfamily A member 1; Ankyrin-like with transmembrane domains protein 1; Transformation-sensitive protein p120; Wasabi receptor; p120", "protein_names_refseq": "ankyrin-like with transmembrane domains 1; transformation-sensitive protein p120; transient receptor potential cation channel subfamily A member 1; wasabi receptor", "tax_id": 9606, "disease": "overactive bladder syndrome (Disease Ontology:DOID:0070355); familial episodic pain syndrome (Disease Ontology:DOID:0111728); familial episodic pain syndrome 1 (Disease Ontology:DOID:0111729); asthma (Disease Ontology:DOID:2841); diabetic neuropathy (Disease Ontology:DOID:9743)", "pathway": " (hsa:8989); (R-HSA-3295583)", "pathway_count": 2, "publication_count": 51, "publication_id_list": "10066796;11050376;11226139;11237011;11243859;11301059;12015988;1422598;14634208;14712238;16500080;17164327;17259981;17567811;19202543;20025796;20547126;20716668;21195050;21402443;21873995;23199233;25389312;25765567;25855297;25892735;27241698;27582506;27600516;28076424;28500286;29557506;30878828;31447178;31844290;31866091;32387766;32488085;32641835;32938616;33121177;33152265;33392160;34171305;35051231;35318648;38072665;38564162;38642892;38963489;39223911", "class_list": "", "function": "Cellular and molecular target for the pungent action of mustard oils; support an emerging role for TRP channel ANKTM1 as an ionotropic cannabinoid receptor, [RefSeq, PubMed]; Critical amino acid residues regulating TRPA1 Zn[2+] response: A comparative study across species., [RefSeq, PubMed]; Discovery of PRDM16-Mediated TRPA1 Induction as the Mechanism for Low Tubulo-Interstitial Fibrosis in Diabetic Kidney Disease., [RefSeq, PubMed]; Human Transient Receptor Potential Ankyrin 1 Channel: Structure, Function, and Physiology. Review article, [RefSeq, PubMed]; Ligand-activated Ca(2+)-permeable, nonselective cation channel involved in pain detection and possibly also in cold perception, oxygen concentration perception, cough, itch, and inner ear function (PubMed:17259981, PubMed:21195050, PubMed:21873995, PubMed:23199233, PubMed:25389312, PubMed:33152265). Has a relatively high Ca(2+) selectivity, with a preference for divalent over monovalent cations (Ca(2+) > Ba(2+) > Mg(2+) > NH4(+) > Li(+) > K(+)), the influx of cation into the cytoplasm leads to membrane depolarization (PubMed:19202543, PubMed:21195050). Has a central role in the pain response to endogenous inflammatory mediators, such as bradykinin and to a diverse array of irritants. Activated by a large variety of structurally unrelated electrophilic and non-electrophilic chemical compounds, such as allylthiocyanate (AITC) from mustard oil or wasabi, cinnamaldehyde, diallyl disulfide (DADS) from garlic, and acrolein, an environmental irritant (PubMed:20547126, PubMed:25389312, PubMed:27241698, PubMed:30878828). Electrophilic ligands activate TRPA1 by interacting with critical N-terminal Cys residues in a covalent manner (PubMed:17164327, PubMed:27241698, PubMed:31866091, PubMed:32641835). Non-electrophile agonists bind at distinct sites in the transmembrane domain to promote channel activation (PubMed:33152265). Also acts as an ionotropic cannabinoid receptor by being activated by delta(9)-tetrahydrocannabinol (THC), the psychoactive component of marijuana (PubMed:25389312). May be a component for the mechanosensitive transduction channel of hair cells in inner ear, thereby participating in the perception of sounds (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; NCS-1 protein regulates TRPA1 channel through the PI3K pathway in breast cancer and neuronal cells., [RefSeq, PubMed]; TRPA1 is a novel substrate for the de-ubiquitinating activity of CYLD, and this de-ubiquitination has the net effect of increasing the cellular pool of TRPA1 proteins., [RefSeq, PubMed]; The role of TRPA1 and TRPV1 in the perception of astringency., [RefSeq, PubMed]; The structure of the protein encoded by this gene is highly related to both the protein ankyrin and transmembrane proteins. The specific function of this protein has not yet been determined; however, studies indicate the function may involve a role in signal transduction and growth control. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 2, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 12, "reported_mutagensis": 24, "reported_glycation": 0, "reported_snv": 62, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A6NIN6", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0097604 temperature-gated cation channel activity;GO:0005262 calcium channel activity;GO:0042802 identical protein binding;GO:0015267 channel activity;GO:0015278 intracellularly gated calcium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030424 axon;GO:0016324 apical plasma membrane;GO:0032421 stereocilium bundle", "go_biological_process": "GO:0070417 cellular response to cold;GO:0071240 cellular response to food;GO:0006811 monoatomic ion transport;GO:0007166 cell surface receptor signaling pathway;GO:0009409 response to cold", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "O75762-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1000100000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IYL2-1", "uniprot_id": [ { "id": "TRM44_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IYL2", "type": "external" } ], "mass": 84629.0, "length": 757, "protein_name": "Probable tRNA (uracil-O(2)-)-methyltransferase", "gene_name": "TRMT44", "organism": "Human", "refseq_name": "probable tRNA (uracil-O(2)-)-methyltransferase isoform 2", "refseq_ac": [ { "id": "NP_689757", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689757", "type": "external" } ], "gene_names_uniprotkb": "TRMT44; C4orf23; METTL19", "gene_names_refseq": "C4orf23; METTL19; TRM44; TRMT44", "protein_names_uniprotkb": "Probable tRNA (uracil-O(2)-)-methyltransferase; 2.1.1.211; Methyltransferase-like protein 19", "protein_names_refseq": "methyltransferase like 19; methyltransferase-like protein 19; probable tRNA (uracil-O(2)-)-methyltransferase isoform 2; probable tRNA (uracil-O(2)-)-methyltransferase", "tax_id": 9606, "disease": "", "pathway": " (hsa:152992); (R-HSA-6782315)", "pathway_count": 2, "publication_count": 55, "publication_id_list": "10430867;10982862;11027153;11111046;11237011;12403464;15861136;15870694;15994936;16043508;16424344;16861910;17071714;18567810;19017811;19414587;20123966;20308323;20354154;20584901;21059936;21131277;21658913;22344696;22591353;22995836;23042678;23048041;23186163;23271734;23381944;23604283;24126054;24204302;24901367;25261850;25404562;25916855;26160102;26310293;26992070;27055666;27846572;28904123;30410026;31481669;31844290;32157095;32357974;32897882;32983136;35051231;36610787;9430663;9851972", "class_list": "", "function": "Adenosyl-L-methionine (AdoMet)-dependent tRNA (uracil-O(2)-)-methyltransferase., [UniProtKB, UniProtKB]; Probable adenosyl-L-methionine (AdoMet)-dependent tRNA (uracil-O(2)-)-methyltransferase., [UniProtKB, UniProtKB]; The protein encoded by this gene is a putative tRNA methyltransferase found in the cytoplasm. Defects in this gene may be a cause of partial epilepsy with pericentral spikes (PEPS), but that has not been proven definitively. [provided by RefSeq, May 2012]., [RefSeq]; This study postulated that Q8IYL2 is a causative gene for PEPS , after exhaustive resequencing and bioinformatic analysis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8NA95", "ec_number_list": [ { "id": "2.1.1.211", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.211", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0016300 tRNA (uridine) methyltransferase activity;GO:0141101 tRNA(Ser) (uridine(44)-2'-O-)-methyltransferase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0030488 tRNA methylation", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q8IYL2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2B1-1", "uniprot_id": [ { "id": "RXLT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2B1", "type": "external" } ], "mass": 51146.0, "length": 443, "protein_name": "Ribitol-5-phosphate xylosyltransferase 1", "gene_name": "RXYLT1", "organism": "Human", "refseq_name": "ribitol-5-phosphate xylosyltransferase 1 isoform 2", "refseq_ac": [ { "id": "NP_001265166", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265166", "type": "external" } ], "gene_names_uniprotkb": "RXYLT1; TMEM5", "gene_names_refseq": "HP10481; MDDGA10; RXYLT1; TMEM5", "protein_names_uniprotkb": "Ribitol-5-phosphate xylosyltransferase 1; 2.4.2.61; Transmembrane protein 5; UDP-D-xylose:ribitol-5-phosphate beta1,4-xylosyltransferase", "protein_names_refseq": "UDP-D-xylose:ribitol-5-phosphate beta1,4-xylosyltransferase; ribitol-5-phosphate xylosyltransferase 1 isoform 2; ribitol-5-phosphate xylosyltransferase 1; transmembrane protein 5; type II membrane protein", "tax_id": 9606, "disease": "Walker-Warburg syndrome (Disease Ontology:DOID:0050560); congenital muscular dystrophy-dystroglycanopathy type A10 (Disease Ontology:DOID:0111239)", "pathway": " (hsa:10329); (R-HSA-9939291)", "pathway_count": 2, "publication_count": 60, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10072769;10545611;11237011;11592034;11709191;11741828;12966029;14627679;15121789;17030669;17034757;17044012;18195152;19587235;22223806;22299025;22522420;23125099;23217329;23359570;23390185;23519211;23584533;24190977;25279697;25279699;25813380;26687144;26923585;27130732;27212206;27493216;27601598;27733679;27909055;28228285;28467828;28834231;29242379;29314611;29477842;29632711;30573663;31020640;31092671;31844290;31949166;32149355;32350084;32938616;33912179;34015330;34171305;35051231;35154160;35251023;36007194", "class_list": "glycogene;glycosyltransferase", "function": "Acts as a UDP-D-xylose:ribitol-5-phosphate beta1,4-xylosyltransferase, which catalyzes the transfer of UDP-D-xylose to ribitol 5-phosphate (Rbo5P) to form the Xylbeta1-4Rbo5P linkage on O-mannosyl glycan (Probable) (PubMed:27733679, PubMed:29477842). Participates in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity (Probable) (PubMed:25279699, PubMed:27601598, PubMed:27733679)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Fukutin, FKRP, and TMEM5 form a complex while maintaining each of their enzyme activities. Data showed that endogenous fukutin and FKRP enzyme activities coexist with TMEM5 enzyme activity, and suggest the possibility that formation of this enzyme complex may contribute to specific and prompt biosynthesis of glycans that are required for dystroglycan function., [RefSeq, PubMed]; RETINAL MANIFESTATIONS OF WALKER-WARBURG SYNDROME IN TWO SIBLINGS WITH RXYLT1 MUTATIONS., [RefSeq, PubMed]; TMEM5 is a UDP-xylosyl transferase that elaborates the O-mannose glycan structure on alpha-dystroglycan. The authors demonstrate in a zebrafish model as well as in a human patient that defects in TMEM5 result in muscular dystrophy in combination with abnormal brain development. Publication Status: Online-Only, [RefSeq, PubMed]; TMEM5 mutations were frequently associated with gonadal dysgenesis and neural tube defects, and ISPD mutations were frequently associated with brain vascular anomalies., [RefSeq, PubMed]; This gene encodes a type II transmembrane protein that is thought to have glycosyltransferase function. Mutations in this gene result in cobblestone lissencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. [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": 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": 613, "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": "A8K017;Q6PKD6", "ec_number_list": [ { "id": "2.7.8.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.8.-", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "2.4.2.61", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.61", "type": "external" } ], "go_molecular_function": "GO:0120053 ribitol beta-1,4-xylosyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane", "go_biological_process": "GO:0006493 protein O-linked glycosylation;GO:0035269 protein O-linked glycosylation via mannose", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q9Y2B1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.100.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96H15-1", "uniprot_id": [ { "id": "TIMD4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96H15", "type": "external" } ], "mass": 41578.0, "length": 378, "protein_name": "T-cell immunoglobulin and mucin domain-containing protein 4", "gene_name": "TIMD4", "organism": "Human", "refseq_name": "T-cell immunoglobulin and mucin domain-containing protein 4 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001140198", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001140198", "type": "external" } ], "gene_names_uniprotkb": "TIMD4; TIM4", "gene_names_refseq": "SMUCKLER; TIM4; TIMD4", "protein_names_uniprotkb": "T-cell immunoglobulin and mucin domain-containing protein 4; T-cell immunoglobulin mucin receptor 4; T-cell membrane protein 4; TIM-4; TIMD-4", "protein_names_refseq": "T-cell immunoglobulin and mucin domain-containing protein 4 isoform 2 precursor; T-cell immunoglobulin and mucin domain-containing protein 4; T-cell immunoglobulin mucin receptor 4; T-cell membrane protein 4; TIM-4; TIMD-4", "tax_id": 9606, "disease": "", "pathway": " (hsa:91937); (R-HSA-9918485)", "pathway_count": 2, "publication_count": 39, "publication_id_list": "11237011;11337487;12682107;15098107;15507651;15838506;16940744;17407086;17439824;18082433;18083575;18266465;23084921;23658209;24029068;24074594;26056282;26212330;26468529;26992070;27832191;27862975;28740388;29557506;29610346;29742433;31720911;31844290;32640697;32703939;33567275;33717175;34067457;34115989;35051231;35580925;35990621;36806050;9931503", "class_list": "", "function": "(Microbial infection) Plays a positive role in exosome-mediated trafficking of HIV-1 virus and its entry into immune cells., [UniProtKB, PubMed]; EphA2 Interacts with Tim-4 through Association between Its FN3 Domain and the IgV Domain of Tim-4. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Phosphatidylserine receptor that plays different role in immune response including phagocytosis of apoptotic cells and T-cell regulation (PubMed:18082433, PubMed:32640697). Involved in efferocytosis, the process by which apoptotic cells are removed by phagocytic cells by promoting the engulfment of apoptotic cells or exogenous particles (PubMed:18082433, PubMed:32703939, PubMed:34067457). Mechanistically, acts by securing apoptotic cells to phagocytes through direct binding to phosphatidylserine present on apoptotic cells, while other engulfment receptors such as MERTK efficiently recognize apoptotic cells and mediate their ingestion (PubMed:32640697). Controls T-cell activation in a bimodal fashion, decreasing the activation of naive T-cells by inducing cell cycle arrest, while increasing proliferation of activated T-cells by activating AKT1 and ERK1/2 phosphorylations and subsequent signaling pathways (By similarity). Also promotes autophagy process by suppressing NLRP3 inflammasome activity via activation of LKB1/PRKAA1 pathway in a phosphatidylserine-dependent mechanism (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Structures of T cell immunoglobulin mucin protein 4 show a metal-Ion-dependent ligand binding site where phosphatidylserine binds., [RefSeq, PubMed]; TIM-4 and TIM-1 are immunologically restricted members of the group of receptors whose recognition of PS is critical for the efficient clearance of apoptotic cells and prevention of autoimmunity., [RefSeq, PubMed]; TIM-4 in macrophages contributes to nasal polyp formation through the TGF-beta1-mediated epithelial to mesenchymal transition in nasal epithelial cells. Publication Status: Online-Only, [RefSeq, PubMed]; TIM-4 orchestrates mitochondrial homeostasis to promote lung cancer progression via ANXA2/PI3K/AKT/OPA1 axis. Publication Status: Online-Only, [RefSeq, PubMed]; The polymorphism of 8570G > A in TIM4 may be associated with allergic asthma in the population of Han nationality from Hubei province of China. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The results demonstrate that Staphylococcus aureus derived Staphylococcal enterotoxin B promotes the TIM4 production in human dendritic cells., [RefSeq, PubMed]; Tim-4(+) cavity-resident macrophages impair anti-tumor CD8(+) T cell immunity., [RefSeq, PubMed]; Tim4 recognizes carbon nanotubes and mediates phagocytosis leading to granuloma formation., [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": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "B5MCL9", "ec_number_list": [], "go_molecular_function": "GO:0001786 phosphatidylserine binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane", "go_biological_process": "GO:0043277 apoptotic cell clearance;GO:0060097 cytoskeletal rearrangement involved in phagocytosis, engulfment", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q96H15-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P40126-1", "uniprot_id": [ { "id": "TYRP2_HUMAN", "url": "https://www.uniprot.org/uniprot/P40126", "type": "external" } ], "mass": 59145.0, "length": 519, "protein_name": "L-dopachrome tautomerase", "gene_name": "DCT", "organism": "Human", "refseq_name": "L-dopachrome tautomerase isoform 2 precursor", "refseq_ac": [ { "id": "NP_001123361", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123361", "type": "external" } ], "gene_names_uniprotkb": "DCT; TYRP2", "gene_names_refseq": "DCT; OCA8; TRP-2; TYRP2", "protein_names_uniprotkb": "L-dopachrome tautomerase; 5.3.3.12; DCT; DT; L-dopachrome Delta-isomerase; TRP-2; TRP2; Tyrosinase-related protein 2", "protein_names_refseq": "DT; L-dopachrome Delta-isomerase; L-dopachrome isomerase; L-dopachrome tautomerase isoform 2 precursor; L-dopachrome tautomerase; TRP2; dopachrome delta-isomerase; dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2); tyrosinase related protein-2", "tax_id": 9606, "disease": "oculocutaneous albinism (Disease Ontology:DOID:0050632); autonomic nervous system disease (Disease Ontology:DOID:11465); polycystic ovary syndrome (Disease Ontology:DOID:11612); hypothyroidism (Disease Ontology:DOID:1459); hyperinsulinism (Disease Ontology:DOID:2018); pancreas disease (Disease Ontology:DOID:26); hyperglycemia (Disease Ontology:DOID:4195); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970); oculocutaneous albinism type 8 (MONDO:MONDO:0030899)", "pathway": " (hsa:1638); (R-HSA-5662702); (R-HSA-9824585)", "pathway_count": 3, "publication_count": 69, "publication_id_list": "10587587;11171088;11237011;11532965;11581168;11777994;11856727;11964381;12028586;12062444;12643545;1321344;1537333;1537334;15543135;15654968;15695812;15729346;15980237;16303920;16704458;17081065;17083485;17182843;17952075;18483556;18697795;18812475;19297406;19389701;19717472;21677667;23266830;23885222;24267888;25093188;25645385;26694611;27600516;27869121;28842328;29778982;29872563;30379171;30515787;31844290;32157095;32488085;32582212;32594746;33100333;34290406;35494241;35580127;35874702;36228153;37586765;4853153;6766744;7813420;7929451;8048919;8148378;8206391;8306979;8530077;8921401;9758418;9770375", "class_list": "", "function": "Plays a role in melanin biosynthesis (PubMed:33100333). Catalyzes the conversion of L-dopachrome into 5,6-dihydroxyindole-2-carboxylic acid (DHICA)., [UniProtKB, PubMed, PubMed]; Plays a role in melanin biosynthesis. Catalyzes the conversion of L-dopachrome into 5,6-dihydroxyindole-2-carboxylic acid (DHICA)., [UniProtKB, UniProtKB]", "predicted_glycosites": 6, "predicted_n_glycosites": 6, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 33, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 10, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q09GT4", "ec_number_list": [ { "id": "5.3.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.2.1", "type": "external" }, { "id": "5.3.3.12", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.12", "type": "external" } ], "go_molecular_function": "GO:0016491 oxidoreductase activity;GO:0005507 copper ion binding;GO:0004167 dopachrome isomerase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0042470 melanosome;GO:0033162 melanosome membrane", "go_biological_process": "GO:0008544 epidermis development;GO:0002052 positive regulation of neuroblast proliferation;GO:0048066 developmental pigmentation;GO:0021847 ventricular zone neuroblast division;GO:0006583 melanin biosynthetic process from tyrosine", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "P40126-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P56180-1", "uniprot_id": [ { "id": "TPTE_HUMAN", "url": "https://www.uniprot.org/uniprot/P56180", "type": "external" } ], "mass": 64322.0, "length": 551, "protein_name": "Putative tyrosine-protein phosphatase TPTE", "gene_name": "TPTE", "organism": "Human", "refseq_name": "putative tyrosine-protein phosphatase TPTE isoform delta", "refseq_ac": [ { "id": "NP_001277153", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277153", "type": "external" } ], "gene_names_uniprotkb": "TPTE", "gene_names_refseq": "CT44; PTEN2; TPTE1; TPTE", "protein_names_uniprotkb": "Putative tyrosine-protein phosphatase TPTE; 3.1.3.48; CT44; Cancer/testis antigen 44; Transmembrane phosphatase with tensin homology; Tumor antigen BJ-HCC-5", "protein_names_refseq": "PTEN-related tyrosine phosphatase; cancer/testis antigen 44; putative tyrosine-protein phosphatase TPTE isoform delta; tensin, putative protein-tyrosine phosphatase; tumor antigen BJ-HCC-5", "tax_id": 9606, "disease": "", "pathway": " (hsa:7179); (R-HSA-1660514)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "10101268;10419465;10559940;10567352;10598804;10764818;10766823;10805725;10806194;11237011;11279162;11706043;11716755;11923287;12324459;14527956;14659893;16959974;17555535;17556371;18950639;19211563;19668216;26350112;31844290;32488085;35051231;38546751;7628435;7761412;8634694;8999962;9148941;9405935;9516481;9878262", "class_list": "", "function": "Could be involved in signal transduction., [UniProtKB]; Overexpression of Transmembrane Phosphatase with Tensin homology (TPTE) in prostate cancer is clinically significant, suggesting its potential as a valuable biomarker. Publication Status: Online-Only, [RefSeq, PubMed]; TPTE sero-reactivity has moderate sensitivity., [RefSeq, PubMed]; This gene encodes a PTEN-related tyrosine phosphatase which may play a role in the signal transduction pathways of the endocrine or spermatogenic function of the testis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 60, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RAP7;C9J6D6;C9JKK8;Q6XPS4;Q6XPS5;Q71JA8;Q8NCS8", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.21", "type": "external" }, { "id": "3.1.3.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.18", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.5", "type": "external" }, { "id": "3.1.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" } ], "go_molecular_function": "GO:0016314 phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity;GO:0005216 monoatomic ion channel activity;GO:0004725 protein tyrosine phosphatase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0006470 protein dephosphorylation", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "P56180-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q70EL4-1", "uniprot_id": [ { "id": "UBP43_HUMAN", "url": "https://www.uniprot.org/uniprot/Q70EL4", "type": "external" } ], "mass": 122809.0, "length": 1123, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 43", "gene_name": "USP43", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 43 isoform 2", "refseq_ac": [ { "id": "NP_001254505", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254505", "type": "external" } ], "gene_names_uniprotkb": "USP43", "gene_names_refseq": "USP43", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 43; 3.4.19.12; Deubiquitinating enzyme 43; Ubiquitin thioesterase 43; Ubiquitin-specific-processing protease 43", "protein_names_refseq": "deubiquitinating enzyme 43; ubiquitin carboxyl-terminal hydrolase 43 isoform 2; ubiquitin carboxyl-terminal hydrolase 43; ubiquitin specific protease 43; ubiquitin thioesterase 43; ubiquitin thiolesterase 43; ubiquitin-specific-processing protease 43", "tax_id": 9606, "disease": "", "pathway": " (hsa:124739); (R-HSA-5656169)", "pathway_count": 2, "publication_count": 38, "publication_id_list": "10801132;10856253;10984059;11006276;11237011;12444249;14715245;15199127;17043239;17389395;18669648;19153606;21143968;21628590;22700975;22859295;23000965;23143872;23593430;24449906;24768535;25576301;27600516;30135474;30379171;30429286;30484775;32938616;35051231;35321978;35580925;36137995;36241641;37050932;38253038;39894887;8658138;8751446", "class_list": "", "function": "Cav2.2-NFAT2-USP43 axis promotes invadopodia formation and breast cancer metastasis through cortactin stabilization. Publication Status: Online-Only, [RefSeq, PubMed]; May recognize and hydrolyze the peptide bond at the C-terminal Gly of ubiquitin. Involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins (By similarity)., [UniProtKB]; Prognostic Value and Oncogenic Effects of Ubiquitin-Specific Protease 43 in Lung Squamous Cell Carcinoma., [RefSeq, PubMed]; Study identifies USP43 to be an H2BK120 deubiquitinase and a potential tumor suppressor and reveals a reciprocally inhibitory loop between USP43 and EGFR/PI3K/AKT, whose imbalance drives breast carcinogenesis, [RefSeq, PubMed]; Ubiquitin-Specific Protease 43 Impacts Pancreatic Ductal Adenocarcinoma Prognosis by Altering Its Proliferation and Infiltration of Surrounding Immune Cells. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 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": "A6NDT9;B7ZLT9;B7ZVX5;Q8N2C5;Q96DQ6", "ec_number_list": [ { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" } ], "go_molecular_function": "GO:0004843 cysteine-type deubiquitinase activity;GO:0019785 ISG15-specific peptidase activity", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0019985 translesion synthesis", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q70EL4-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P25942-1", "uniprot_id": [ { "id": "TNR5_HUMAN", "url": "https://www.uniprot.org/uniprot/P25942", "type": "external" } ], "mass": 30619.0, "length": 277, "protein_name": "Tumor necrosis factor receptor superfamily member 5", "gene_name": "CD40", "organism": "Human", "refseq_name": "tumor necrosis factor receptor superfamily member 5 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001241", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001241", "type": "external" } ], "gene_names_uniprotkb": "CD40; TNFRSF5", "gene_names_refseq": "Bp50; CD40; CDW40; TNFRSF5; p50", "protein_names_uniprotkb": "Tumor necrosis factor receptor superfamily member 5; B-cell surface antigen CD40; Bp50; CD40L receptor; CDw40", "protein_names_refseq": "B cell surface antigen CD40; B cell-associated molecule; CD40 molecule, TNF receptor superfamily member 5; CD40L receptor; tumor necrosis factor receptor superfamily member 5 isoform 1 precursor; tumor necrosis factor receptor superfamily member 5", "tax_id": 9606, "disease": "cutaneous lupus erythematosus (Disease Ontology:DOID:0050169); tick-borne encephalitis (Disease Ontology:DOID:0050175); erythema multiforme (Disease Ontology:DOID:0050185); diffuse large B-cell lymphoma (Disease Ontology:DOID:0050745); follicular lymphoma (Disease Ontology:DOID:0050873); myelodysplastic syndrome (Disease Ontology:DOID:0050908); stroke (Disease Ontology:DOID:0051061); immunodeficiency with hyper IgM type 3 (Disease Ontology:DOID:0060023); non-Hodgkin lymphoma (Disease Ontology:DOID:0060060); colitis (Disease Ontology:DOID:0060180); atrial fibrillation (Disease Ontology:DOID:0060224); dermatomyositis (Disease Ontology:DOID:10223); pre-eclampsia (Disease Ontology:DOID:10591); membranous glomerulonephritis (Disease Ontology:DOID:10976); Graves' disease (Disease Ontology:DOID:12361); dilated cardiomyopathy (Disease Ontology:DOID:12930); Kawasaki disease (Disease Ontology:DOID:13378); melanoma (Disease Ontology:DOID:1909); atherosclerosis (Disease Ontology:DOID:1936); multiple sclerosis (Disease Ontology:DOID:2377); asthma (Disease Ontology:DOID:2841); bronchiolitis (Disease Ontology:DOID:2942); hyperimmunoglobulin syndrome (Disease Ontology:DOID:2959); renal artery obstruction (Disease Ontology:DOID:2972); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); atopic dermatitis (Disease Ontology:DOID:3310); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); acute myocarditis (Disease Ontology:DOID:3951); allergic rhinitis (Disease Ontology:DOID:4481); Ehrlich tumor carcinoma (Disease Ontology:DOID:5050); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); pulmonary hypertension (Disease Ontology:DOID:6432); B-cell lymphoma (Disease Ontology:DOID:707); rheumatoid arthritis (Disease Ontology:DOID:7148); end stage renal disease (Disease Ontology:DOID:783); arthritis (Disease Ontology:DOID:848); chronic myeloid leukemia (Disease Ontology:DOID:8552); ulcerative colitis (Disease Ontology:DOID:8577); Burkitt lymphoma (Disease Ontology:DOID:8584); perinatal necrotizing enterocolitis (Disease Ontology:DOID:8677); Crohn's disease (Disease Ontology:DOID:8778); psoriasis (Disease Ontology:DOID:8893); skin melanoma (Disease Ontology:DOID:8923); autoimmune thrombocytopenic purpura (Disease Ontology:DOID:8924); systemic lupus erythematosus (Disease Ontology:DOID:9074); pemphigus (Disease Ontology:DOID:9182); lichen planus (Disease Ontology:DOID:9201); plasma cell leukemia (Disease Ontology:DOID:9513); multiple myeloma (Disease Ontology:DOID:9538); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:958)", "pathway_count": 1, "publication_count": 47, "publication_id_list": "10.1101/2023.09.13.557529;10984535;11172023;11237011;11675497;11676606;12005438;15340161;24190977;2463309;2475341;25418920;25502872;26375851;26545377;28832583;29242379;29314611;29437277;29508533;29741879;30626607;31331973;31844290;32157095;32350084;32983136;33298915;33912179;33936100;33968037;34078123;34357683;34932366;35154160;35580925;37074911;39242402;39261658;39350313;7530216;7533327;9037712;9432981;9511754;9605317;9718306", "class_list": "", "function": "A call for clinical trials in glioblastoma multiforme for interleukin 4, interleukin 6, interleukin 13 and CD40. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Frequency of CD40-1C>T polymorphism (rs1883832) and association with response to treatment in children with primary immune thrombocytopenia., [RefSeq, PubMed]; Receptor for TNFSF5/CD40LG (PubMed:31331973). Transduces TRAF6- and MAP3K8-mediated signals that activate ERK in macrophages and B cells, leading to induction of immunoglobulin secretion (By similarity)., [UniProtKB, UniProtKB, PubMed]; Receptor for TNFSF5/CD40LG. Transduces TRAF6- and MAP3K8-mediated signals that activate ERK in macrophages and B cells, leading to induction of immunoglobulin secretion., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene is a member of the TNF-receptor superfamily. The encoded protein is a receptor on antigen-presenting cells of the immune system and is essential for mediating a broad variety of immune and inflammatory responses including T cell-dependent immunoglobulin class switching, memory B cell development, and germinal center formation. AT-hook transcription factor AKNA is reported to coordinately regulate the expression of this receptor and its ligand, which may be important for homotypic cell interactions. Adaptor protein TNFR2 interacts with this receptor and serves as a mediator of the signal transduction. The interaction of this receptor and its ligand is found to be necessary for amyloid-beta-induced microglial activation, and thus is thought to be an early event in Alzheimer disease pathogenesis. Mutations affecting this gene are the cause of autosomal recessive hyper-IgM immunodeficiency type 3 (HIGM3). Multiple alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Nov 2014]., [RefSeq]; ZG16 enhances the maturation of dendritic cells via induction of CD40 and contributes to the antitumor immunity in pancreatic 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": 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": 15, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 27, "disease_count": 51, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "E1P5S9;Q53GN5;Q5JY15;Q5U007;Q7M4Q8;Q86YK5;Q9BYU0", "ec_number_list": [], "go_molecular_function": "GO:0019899 enzyme binding;GO:0019904 protein domain specific binding;GO:0031625 ubiquitin protein ligase binding;GO:0003823 antigen binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0043025 neuronal cell body;GO:0070062 extracellular exosome;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0023035 CD40 signaling pathway;GO:0006954 inflammatory response;GO:0043410 positive regulation of MAPK cascade;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006874 intracellular calcium ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "P25942-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q02223-1", "uniprot_id": [ { "id": "TNR17_HUMAN", "url": "https://www.uniprot.org/uniprot/Q02223", "type": "external" } ], "mass": 20165.0, "length": 184, "protein_name": "Tumor necrosis factor receptor superfamily member 17", "gene_name": "TNFRSF17", "organism": "Human", "refseq_name": "tumor necrosis factor receptor superfamily member 17", "refseq_ac": [ { "id": "NP_001183", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001183", "type": "external" } ], "gene_names_uniprotkb": "TNFRSF17; BCMA; BCM", "gene_names_refseq": "BCMA; BCM; CD269; TNFRSF13A; TNFRSF17", "protein_names_uniprotkb": "Tumor necrosis factor receptor superfamily member 17; B-cell maturation protein", "protein_names_refseq": "B cell maturation antigen; B-cell maturation factor; B-cell maturation protein; tumor necrosis factor receptor superfamily member 17", "tax_id": 9606, "disease": "colon carcinoma (Disease Ontology:DOID:1520); multiple myeloma (Disease Ontology:DOID:9538)", "pathway": " (hsa:608); (R-HSA-5669034)", "pathway_count": 2, "publication_count": 82, "publication_id_list": "10074428;10359578;10398604;10484778;10597252;10615125;10801128;10903733;10908663;10973284;11237011;11528522;11571266;11882293;11911831;12189164;12721620;12949498;1396583;14656435;14978097;15356117;15470070;15542592;16501042;1655907;17632511;17825416;18571443;18606301;18991276;20032458;20222921;20307208;20510730;20979233;21300286;22197273;22664871;22801960;23776238;24070496;24190977;25502872;25892735;26154972;27846572;27920218;28446606;28832583;28834231;29242379;29437277;29557506;29632711;29769354;31217245;31530632;31844290;32111817;32157095;32350084;33717175;33912179;33936100;34357683;34433824;34932366;35051231;35154160;35561310;35580925;36346307;37188125;38649856;38783333;38911853;7913952;8120384;8165126;8871664;9878548", "class_list": "", "function": "25-hydroxycholesterol promotes proliferation and metastasis of lung adenocarcinoma cells by regulating ERbeta/TNFRSF17 axis. Publication Status: Online-Only, [RefSeq, PubMed]; BCMA/CD47-directed universal CAR-T cells exhibit excellent antitumor activity in multiple myeloma. Publication Status: Online-Only, [RefSeq, PubMed]; Expression levels and patterns of B-cell maturation antigen in newly diagnosed and relapsed multiple myeloma patients from Indian subcontinent., [RefSeq, PubMed]; Receptor for TNFSF13B/BLyS/BAFF and TNFSF13/APRIL. Promotes B-cell survival and plays a role in the regulation of humoral immunity. Activates NF-kappa-B and JNK., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Soluble B-cell maturation antigen as a monitoring marker for multiple myeloma. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is preferentially expressed in mature B lymphocytes, and may be important for B cell development and autoimmune response. This receptor has been shown to specifically bind to the tumor necrosis factor (ligand) superfamily, member 13b (TNFSF13B/TALL-1/BAFF), and to lead to NF-kappaB and MAPK8/JNK activation. This receptor also binds to various TRAF family members, and thus may transduce signals for cell survival and proliferation. [provided by RefSeq, Jul 2008]., [RefSeq]; Toll-like receptor signaling in multiple myeloma cells promotes the expression of pro-survival genes B-cell lymphoma 2 and MYC and modulates the expression of B-cell maturation antigen. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 13, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q2TQ40", "ec_number_list": [], "go_molecular_function": "GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0007165 signal transduction;GO:0002250 adaptive immune response;GO:0033209 tumor necrosis factor-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "Q02223-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000100000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NFQ8-1", "uniprot_id": [ { "id": "TOIP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NFQ8", "type": "external" } ], "mass": 51263.0, "length": 470, "protein_name": "Torsin-1A-interacting protein 2", "gene_name": "TOR1AIP2", "organism": "Human", "refseq_name": "torsin-1A-interacting protein 2 isoform b", "refseq_ac": [ { "id": "NP_001186189", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186189", "type": "external" } ], "gene_names_uniprotkb": "TOR1AIP2; IFRG15; LULL1", "gene_names_refseq": "IFRG15; LULL1; NET9; TOR1AIP2", "protein_names_uniprotkb": "Torsin-1A-interacting protein 2; Lumenal domain-like LAP1", "protein_names_refseq": "15 kDa interferon-responsive protein; interferon responsive gene 15; lumenal domain like LAP1; torsin A interacting protein 2; torsin-1A-interacting protein 2 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:163590)", "pathway_count": 1, "publication_count": 61, "publication_id_list": "10.1101/2023.09.13.557529;11237011;15767459;18077418;18669648;18691976;19339278;19651622;20068231;21406692;23090970;23186163;23301498;23569223;24190977;24275569;24275647;24715725;25576301;25645385;26811146;26992070;27452731;27490483;27600516;27920218;28832583;29242379;29393594;29557506;29741879;30429286;31154438;31222486;31844290;32157095;32161166;32350084;32357974;32387766;32897882;32938616;32983136;33298915;33465208;33592498;33691108;33968037;34171305;34357683;34405274;34509645;35051231;35251023;35254053;35318648;35580925;36241641;37074911;39302247;40914422", "class_list": "", "function": "A comparison of these structures shows, in atomic detail, the subtle differences in TorsinADeltaE-LULL1 activator interactions that separate the healthy from the diseased state. Publication Status: Online-Only, [RefSeq, PubMed]; Data suggest that LULL1 regulates the distribution and activity of TorA within the ER and NE lumen and reveal functional defects in the mutant protein responsible for DYT1 dystonia., [RefSeq, PubMed]; Identifed a novel transmembrane protein, lumenal domain like LAP1 (LULL1), which appears to interact with torsinA; it resides in the main endoplasmic reticulum., [RefSeq, PubMed]; LAP1 and LULL1 as regulatory cofactors that are responsible for the activation of TorA's ATPase activity., [RefSeq, PubMed]; One of the two protein isoforms encoded by this gene is a type II integral membrane protein found in the endoplasmic reticulum (ER). The encoded protein is a cofactor for the ATPase TorsinA, regulating the amount of TorsinA present in the ER compared to that found in the nuclear envelope. Defects in this protein are a cause of early onset primary dystonia, a neuromuscular disease. The other isoform encoded by this gene is an interferon alpha responsive protein whose cellular role has yet to be determined. [provided by RefSeq, Mar 2017]., [RefSeq]; Required for endoplasmic reticulum integrity. Regulates the distribution of TOR1A between the endoplasmic reticulum and the nuclear envelope as well as induces TOR1A, TOR1B and TOR3A ATPase activity., [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": 3, "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": 3, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 11, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0051117 ATPase binding;GO:0001671 ATPase activator activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0031965 nuclear membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0090435 protein localization to nuclear envelope;GO:0061024 membrane organization;GO:0032781 positive regulation of ATP-dependent activity;GO:0007029 endoplasmic reticulum organization", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q8NFQ8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BUB7-1", "uniprot_id": [ { "id": "TMM70_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BUB7", "type": "external" } ], "mass": 28969.0, "length": 260, "protein_name": "Transmembrane protein 70, mitochondrial", "gene_name": "TMEM70", "organism": "Human", "refseq_name": "transmembrane protein 70, mitochondrial isoform b", "refseq_ac": [ { "id": "NP_001035703", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035703", "type": "external" } ], "gene_names_uniprotkb": "TMEM70", "gene_names_refseq": "MC5DN2; TMEM70", "protein_names_uniprotkb": "Transmembrane protein 70, mitochondrial", "protein_names_refseq": "mitochondrial complex V deficiency, nuclear type 1; transmembrane protein 70, mitochondrial isoform b; transmembrane protein 70, mitochondrial", "tax_id": 9606, "disease": "mitochondrial complex V (ATP synthase) deficiency nuclear type 2 (Disease Ontology:DOID:0060331)", "pathway": " (hsa:54968)", "pathway_count": 1, "publication_count": 50, "publication_id_list": "11237011;18953340;19103153;19913121;20200953;20237496;20335238;20937241;22986587;24576557;24715725;25576301;25880248;26154972;26811146;26992070;27846572;28228285;28904123;29437277;29493099;29557506;30315122;30429286;31652072;31844290;32157095;32275929;32357974;32387766;32938616;32983136;33141586;33298915;33359711;33392160;33633747;33753518;33912179;33968037;33981976;34087483;34171305;34185709;34357683;34509645;35051231;35580925;36010968;36241641", "class_list": "", "function": "ATP synthase deficiency with mutation in TMEM70 should be considered in the diagnosis and management of ill neonates with early onset of muscular hypotonia, HCMP and hypospadias in boys accompanied by lactic acidosis, hyperammonaemia and 3-MGC-uria., [RefSeq, PubMed]; Gene mapping and complementation studies have identified mutations in TMEM70 gene encoding a 30kD mitochondrial protein of unknown function as the cause of hypertrophic cardiomyopathy and encephalopathy., [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Scaffold protein that participates in the c-ring assembly of mitochondrial ATP synthase (F(1)F(0) ATP synthase or complex V) by facilitating the membrane insertion and oligomer formation of the subunit c/ATP5MC1 through its interaction (PubMed:31652072, PubMed:32275929, PubMed:33359711, PubMed:33753518). Therefore, participates in the early stage of mitochondrial ATP synthase biogenesis and also protects subunit c/ATP5MC1 against intramitochondrial proteolysis (PubMed:18953340, PubMed:20937241, PubMed:31652072, PubMed:33359711). In addition, binds the mitochondrial proton-transporting ATP synthase complexes I and may play a role in the stability of its membrane-bound subassemblies (PubMed:32275929)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; TMEM70 and TMEM242 help to assemble the rotor ring of human ATP synthase and interact with assembly factors for complex I., [RefSeq, PubMed]; TMEM70 forms oligomeric scaffolds within mitochondrial cristae promoting in situ assembly of mammalian ATP synthase proton channel., [RefSeq, PubMed]; TMEM70 is involved in mitochondrial ATP synthase biogenesis in higher eukaryotes., [RefSeq, PubMed]; This gene likely encodes a mitochondrial membrane protein. The encoded protein may play a role in biogenesis of mitochondrial ATP synthase. Mutations in this gene have been associated with neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency. Alternatively spliced transcript variants have been described. [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": 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": "E9PDY9;Q9NWY5", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0140260 mitochondrial proton-transporting ATP synthase complex binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0031966 mitochondrial membrane;GO:0030061 mitochondrial crista", "go_biological_process": "GO:0051259 protein complex oligomerization;GO:0051260 protein homooligomerization;GO:0032981 mitochondrial respiratory chain complex I assembly;GO:0033615 mitochondrial proton-transporting ATP synthase complex assembly", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q9BUB7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6GV28-1", "uniprot_id": [ { "id": "TM225_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6GV28", "type": "external" } ], "mass": 25801.0, "length": 225, "protein_name": "Transmembrane protein 225", "gene_name": "TMEM225", "organism": "Human", "refseq_name": "transmembrane protein 225 isoform 1", "refseq_ac": [ { "id": "NP_001013765", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013765", "type": "external" } ], "gene_names_uniprotkb": "TMEM225; PMP22CD", "gene_names_refseq": "PMP22CD; PPP1R154; SPATA47; TMEM225", "protein_names_uniprotkb": "Transmembrane protein 225", "protein_names_refseq": "PMP22 claudin domain-containing protein; protein phosphatase 1, regulatory subunit 154; spermatogenesis associated 47; transmembrane protein 225 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:338661)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;25892735", "class_list": "", "function": "Probably inhibits protein phosphatase 1 (PP1) in sperm via binding to catalytic subunit PPP1CC., [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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0002080 acrosomal membrane;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q6GV28-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q56UQ5-1", "uniprot_id": [ { "id": "TPT1L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q56UQ5", "type": "external" } ], "mass": 15757.0, "length": 140, "protein_name": "TPT1-like protein", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "TPT1-like protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 21, "publication_id_list": "20068231;21654843;21993680;22706990;23481700;25645385;26375851;26728094;27543614;27920218;28228285;28832583;28834231;29242379;29331515;29508533;29632711;29786170;30524438;34357683;36581221", "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": "B2RPQ9;Q6ZTI1", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q56UQ5-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5SRD1-1", "uniprot_id": [ { "id": "TI23B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5SRD1", "type": "external" } ], "mass": 19670.0, "length": 188, "protein_name": "Mitochondrial import inner membrane translocase subunit Tim23B", "gene_name": "TIMM23B-AGAP6; TIMM23B", "organism": "Human", "refseq_name": "mitochondrial import inner membrane translocase subunit Tim23B isoform 1", "refseq_ac": [ { "id": "NP_001277046", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277046", "type": "external" } ], "gene_names_uniprotkb": "TIMM23B-AGAP6; TIMM23B; TIMM23B", "gene_names_refseq": "TIMM23B", "protein_names_uniprotkb": "Mitochondrial import inner membrane translocase subunit Tim23B; TIMM23B", "protein_names_refseq": "mitochondrial import inner membrane translocase subunit Tim23B isoform 1; putative mitochondrial import inner membrane translocase subunit Tim23B", "tax_id": 9606, "disease": "", "pathway": " (hsa:100652748)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "11237011;20707881;22645359;24715725;25576301;25645385;25892735;26024233;26375851;26992070;28228285;28832583;28834231;29242379;29331515;29413900;29508533;29557506;29632711;30429286;30524438;31844290;32157095;32488085;32502341;32897882;32983136;33592498;33633747;33912179;33936100;33968037;33981976;34087483;34171305;35051231;35318648;35561310;35580925;36241641;36581221", "class_list": "", "function": "May participate in the translocation of transit peptide-containing proteins across the mitochondrial inner membrane. the PAM complex (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": 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": "B4DDK6;E7EP42;Q5SRD2", "ec_number_list": [], "go_molecular_function": "GO:0008320 protein transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005744 TIM23 mitochondrial import inner membrane translocase complex", "go_biological_process": "GO:0030150 protein import into mitochondrial matrix", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q5SRD1-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5W0B7-1", "uniprot_id": [ { "id": "TM236_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5W0B7", "type": "external" } ], "mass": 39663.0, "length": 351, "protein_name": "Transmembrane protein 236", "gene_name": "TMEM236", "organism": "Human", "refseq_name": "transmembrane protein 236", "refseq_ac": [ { "id": "NP_001092314", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092314", "type": "external" } ], "gene_names_uniprotkb": "TMEM236; FAM23A; FAM23B", "gene_names_refseq": "FAM23A; FAM23B; TMEM236; bA162I21.2; bA16O1.2", "protein_names_uniprotkb": "Transmembrane protein 236", "protein_names_refseq": "family with sequence similarity 23, member A; family with sequence similarity 23, member B; transmembrane protein 236", "tax_id": 9606, "disease": "", "pathway": " (hsa:653567)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "25576301;29242379;30429286;32157095;32897882;33392160;35051231;35580925", "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": "B2RXH7", "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": "Q5W0B7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q68D42-1", "uniprot_id": [ { "id": "TM215_HUMAN", "url": "https://www.uniprot.org/uniprot/Q68D42", "type": "external" } ], "mass": 25806.0, "length": 235, "protein_name": "Transmembrane protein 215", "gene_name": "TMEM215", "organism": "Human", "refseq_name": "transmembrane protein 215", "refseq_ac": [ { "id": "NP_997723", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997723", "type": "external" } ], "gene_names_uniprotkb": "TMEM215", "gene_names_refseq": "TMEM215", "protein_names_uniprotkb": "Transmembrane protein 215", "protein_names_refseq": "transmembrane protein 215", "tax_id": 9606, "disease": "", "pathway": " (hsa:401498)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "30370660;35051231", "class_list": "", "function": "These results identified TMEM215 as a novel molecule involved in angiogenesis by regulating the survival of endothelial 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": 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": "Q6ZUU2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:2000352 negative regulation of endothelial cell apoptotic process;GO:0002040 sprouting angiogenesis;GO:0062099 negative regulation of programmed necrotic cell death", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q68D42-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6PI78-1", "uniprot_id": [ { "id": "TMM65_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6PI78", "type": "external" } ], "mass": 25498.0, "length": 240, "protein_name": "Transmembrane protein 65", "gene_name": "TMEM65", "organism": "Human", "refseq_name": "transmembrane protein 65", "refseq_ac": [ { "id": "NP_919267", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_919267", "type": "external" } ], "gene_names_uniprotkb": "TMEM65", "gene_names_refseq": "TMEM65", "protein_names_uniprotkb": "Transmembrane protein 65", "protein_names_refseq": "transmembrane protein 65", "tax_id": 9606, "disease": "", "pathway": " (hsa:157378)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "11237011;18767875;23481700;24765583;26403541;26811146;28295037;28904123;29242379;30192525;31154438;31222486;31844290;32488085;32938616;33141586;33968037;34087483;34357683;35051231;36010968;36215666;36241641;37938771;38341472;40200126;40691517", "class_list": "", "function": "A novel homozygous splice variant (c.472+1G>A) in the TMEM65 gene identified in a patient with mitochondrial encephalomyopathy. TMEM65 mutation severely affected mitochondrial content and respiration rate in dermal fibroblasts., [RefSeq, PubMed]; Mitochondrial protein that plays a critical role in the sodium-dependent calcium efflux from mitochondrion (PubMed:40200126, PubMed:40691517). The precise role of TMEM65 in mitochondrial sodium/calcium exchange is however unclear: TMEM65 associates with the SLC8B1/NCLX antiporter and probably promotes the sodium/calcium exchange mediated by SLC8B1/NCLX (PubMed:40200126). According to another report, TMEM65 functions as the mitochondrial sodium/calcium antiporter itself: homodimerization drives formation of a pocket capable of binding calcium (PubMed:40691517). Essential for maintaining proper cardiac intercalated disk (ICD) structure and function as well as cardiac conduction velocity in the heart (By similarity). Its association with SCN1B is required for stabilizing the perinexus in the ICD and for localization of GJA1 and SCN5A to the ICD (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; TMEM65 promotes gastric tumorigenesis by targeting YWHAZ to activate PI3K-Akt-mTOR pathway and is a therapeutic target., [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": 10, "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": "Q8N5G8;Q8WVK5", "ec_number_list": [], "go_molecular_function": "GO:0005432 calcium:sodium antiporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005886 plasma membrane;GO:0014704 intercalated disc;GO:0016020 membrane", "go_biological_process": "GO:0003231 cardiac ventricle development;GO:1903779 regulation of cardiac conduction;GO:0061337 cardiac conduction;GO:0099093 calcium export from the mitochondrion", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q6PI78-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UWW9-1", "uniprot_id": [ { "id": "TM207_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UWW9", "type": "external" } ], "mass": 16116.0, "length": 146, "protein_name": "Transmembrane protein 207", "gene_name": "TMEM207", "organism": "Human", "refseq_name": "transmembrane protein 207 precursor", "refseq_ac": [ { "id": "NP_997199", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997199", "type": "external" } ], "gene_names_uniprotkb": "TMEM207; PRO1784", "gene_names_refseq": "TMEM207; UNQ846", "protein_names_uniprotkb": "Transmembrane protein 207", "protein_names_refseq": "SRSR846; transmembrane protein 207 precursor", "tax_id": 9606, "disease": "epidermal appendage tumor (Disease Ontology:DOID:2433)", "pathway": " (hsa:131920)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "12975309;22226915;23481700;29164763;37293153", "class_list": "", "function": "Enforced expression of TMEM207 abrogated the binding of WWOX to HIF-1alpha, increased HIF-1alpha and GLUT-1 expression, even under normoxic conditions, and promoted tumour growth., [RefSeq, PubMed]; Overexpression of TMEM207 may facilitate invasive activity and metastasis of gastric signet-ring cell carcinoma, which possibly occur through binding to WWOX and attenuation of its function., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0031901 early endosome membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q6UWW9-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZWK6-1", "uniprot_id": [ { "id": "TM11F_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZWK6", "type": "external" } ], "mass": 49410.0, "length": 438, "protein_name": "Transmembrane protease serine 11F", "gene_name": "TMPRSS11F", "organism": "Human", "refseq_name": "transmembrane protease serine 11F", "refseq_ac": [ { "id": "NP_997290", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997290", "type": "external" } ], "gene_names_uniprotkb": "TMPRSS11F; HATL4", "gene_names_refseq": "HATL4; TMPRSS11F", "protein_names_uniprotkb": "Transmembrane protease serine 11F; 3.4.21.-; Airway trypsin-like protease 4", "protein_names_refseq": "airway trypsin-like protease 4; transmembrane protease serine 11F; transmembrane protease, serine 11F", "tax_id": 9606, "disease": "", "pathway": " (hsa:389208)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "28338078;28832583;30843660;35051231", "class_list": "", "function": "Probable serine protease., [UniProtKB]; Results indicate that ectopic HAT-L4 expression is a pathological mechanism in neutrophils and monocytes from acute myeloid leukemia (AML) and that HAT-L4 may be used as a cell surface marker for AML blast detection. Erratum:[Cancer Med. 2025 Mar;14(5):e70700. doi: 10.1002/cam4.70700. PMID: 40025793], [RefSeq, PubMed]; Study reveals a role of HAT-L4 in the epidermal barrier function to prevent body fluid loss, providing another example of cell membrane-bound serine proteases in epidermal development and function. Erratum:[Sci Rep. 2020 Apr 10;10(1):6467. doi: 10.1038/s41598-020-62767-5. PMID: 32277073] 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": "A8MXX2", "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:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0016485 protein processing", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q6ZWK6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z6W1-1", "uniprot_id": [ { "id": "TMCO2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z6W1", "type": "external" } ], "mass": 20071.0, "length": 182, "protein_name": "Transmembrane and coiled-coil domain-containing protein 2", "gene_name": "TMCO2", "organism": "Human", "refseq_name": "transmembrane and coiled-coil domain-containing protein 2", "refseq_ac": [ { "id": "NP_001008740", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008740", "type": "external" } ], "gene_names_uniprotkb": "TMCO2", "gene_names_refseq": "TMCO2; dJ39G22.2", "protein_names_uniprotkb": "Transmembrane and coiled-coil domain-containing protein 2", "protein_names_refseq": "testis tissue sperm-binding protein Li 35a; transmembrane and coiled-coil domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:127391)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "31548259", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q7Z6W1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86T26-1", "uniprot_id": [ { "id": "TM11B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86T26", "type": "external" } ], "mass": 46337.0, "length": 416, "protein_name": "Transmembrane protease serine 11B", "gene_name": "TMPRSS11B", "organism": "Human", "refseq_name": "transmembrane protease serine 11B", "refseq_ac": [ { "id": "NP_872308", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872308", "type": "external" } ], "gene_names_uniprotkb": "TMPRSS11B; HATL5", "gene_names_refseq": "HATL5; TMPRSS11B", "protein_names_uniprotkb": "Transmembrane protease serine 11B; 3.4.21.-; Airway trypsin-like protease 5", "protein_names_refseq": "airway trypsin-like protease 5; transmembrane protease serine 11B; transmembrane protease, serine 11B", "tax_id": 9606, "disease": "", "pathway": " (hsa:132724)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "17975119;19023099;24498351;28228285;28832583;29557506;30463017;35580925", "class_list": "", "function": "Data indicate that TMPRSS11b (BC126195), encoding human airway trypsin-like protease 5 (HATL5), is localized on the cell surface of differentiated epithelial cells in the stratified squamous epithelia of cervix, esophagus, and oral cavity. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Serine protease., [UniProtKB, PubMed]; These findings establish an oncogenic role for TMPRSS11B and provide support for the development of therapies that target this enzyme at the surface of cancer cells., [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": 26, "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": "A8K4D9", "ec_number_list": [], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0016485 protein processing", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q86T26-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N0U2-1", "uniprot_id": [ { "id": "TMM61_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N0U2", "type": "external" } ], "mass": 22170.0, "length": 210, "protein_name": "Transmembrane protein 61", "gene_name": "TMEM61", "organism": "Human", "refseq_name": "transmembrane protein 61", "refseq_ac": [ { "id": "NP_872338", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872338", "type": "external" } ], "gene_names_uniprotkb": "TMEM61", "gene_names_refseq": "TMEM61", "protein_names_uniprotkb": "Transmembrane protein 61", "protein_names_refseq": "transmembrane protein 61", "tax_id": 9606, "disease": "", "pathway": " (hsa:199964)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;35051231", "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": 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": "", "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": "Q8N0U2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N616-1", "uniprot_id": [ { "id": "TM148_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N616", "type": "external" } ], "mass": 12924.0, "length": 119, "protein_name": "Putative uncharacterized protein encoded by LINC00311", "gene_name": "LINC00311", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC00311; NCRNA00311; TMEM148", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC00311", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "30379171;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": 0.5, "record_id": "Q8N616-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N8V8-1", "uniprot_id": [ { "id": "TM105_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N8V8", "type": "external" } ], "mass": 13990.0, "length": 129, "protein_name": "Transmembrane protein 105", "gene_name": "TMEM105", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TMEM105", "gene_names_refseq": "", "protein_names_uniprotkb": "Transmembrane protein 105", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "22706990;29557506", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "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": "Q8N8V8-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TC26-1", "uniprot_id": [ { "id": "TM163_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TC26", "type": "external" } ], "mass": 31469.0, "length": 289, "protein_name": "Transmembrane protein 163", "gene_name": "TMEM163", "organism": "Human", "refseq_name": "transmembrane protein 163", "refseq_ac": [ { "id": "NP_112185", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112185", "type": "external" } ], "gene_names_uniprotkb": "TMEM163", "gene_names_refseq": "DC29; HLD25; SLC30A11; SV31; TMEM163", "protein_names_uniprotkb": "Transmembrane protein 163", "protein_names_refseq": "transmembrane protein 163", "tax_id": 9606, "disease": "hypomyelinating leukodystrophy 25 (Disease Ontology:DOID:0070401); proteinuria (Disease Ontology:DOID:576)", "pathway": " (hsa:81615)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "23209189;23481700;24715725;25130899;31697912;32157095;32492420;33513603;35051231;35455965;35953447;36010968;36204728;36215666", "class_list": "", "function": "A zinc transporter, transmembrane protein 163, is critical for the biogenesis of platelet dense granules., [RefSeq, PubMed]; Data suggest that SNP within TMEM163 (rs998451) and SNP near TMEM163 (rs6723108) are associated with type 2 diabetes and insulin resistance in subjects in India (versus Indo-Europeans and Dravidians). [META-ANALYSIS; Genome-Wide Association Studies], [RefSeq, PubMed]; Functional Study of TMEM163 Gene Variants Associated with Hypomyelination Leukodystrophy. Publication Status: Online-Only, [RefSeq, PubMed]; TMEM163 is a putative zinc transporter, a novel interacting partner for TRPML1, essential for zinc homeostasis., [RefSeq, PubMed]; Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy., [RefSeq, PubMed]; Zinc ion transporter that mediates zinc efflux and plays a crucial role in intracellular zinc homeostasis (PubMed:25130899, PubMed:31697912, PubMed:36204728). Binds the divalent cations Zn(2+), Ni(2+), and to a minor extent Cu(2+) (By similarity). Is a functional modulator of P2X purinoceptors, including P2RX1, P2RX3, P2RX4 and P2RX7 (PubMed:32492420). Plays a role in central nervous system development and is required for myelination, and survival and proliferation of oligodendrocytes (PubMed:35455965)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 4, "reported_glycation": 0, "reported_snv": 6, "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": "Q53QM3;Q53SV7;Q69YH3;Q9UFG3", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0097708 intracellular vesicle;GO:0005886 plasma membrane;GO:0005764 lysosome;GO:0005765 lysosomal membrane;GO:0031902 late endosome membrane", "go_biological_process": "GO:0042552 myelination;GO:0006882 intracellular zinc ion homeostasis;GO:0099180 zinc ion import into synaptic vesicle;GO:0140882 zinc export across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q8TC26-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92748-1", "uniprot_id": [ { "id": "THRSP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92748", "type": "external" } ], "mass": 16561.0, "length": 146, "protein_name": "Thyroid hormone-inducible hepatic protein", "gene_name": "THRSP", "organism": "Human", "refseq_name": "thyroid hormone-inducible hepatic protein", "refseq_ac": [ { "id": "NP_003242", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003242", "type": "external" } ], "gene_names_uniprotkb": "THRSP", "gene_names_refseq": "LPGP1; Lpgp; S14; SPOT14; THRP; THRSP", "protein_names_uniprotkb": "Thyroid hormone-inducible hepatic protein; S14; SPOT14; Spot 14 protein", "protein_names_refseq": "lipogenic protein 1; spot 14 protein; thyroid hormone responsive (SPOT14 homolog, rat); thyroid hormone-inducible hepatic protein", "tax_id": 9606, "disease": "attention deficit hyperactivity disorder (Disease Ontology:DOID:1094)", "pathway": " (hsa:7069); (R-HSA-200425); (R-HSA-9841922)", "pathway_count": 3, "publication_count": 50, "publication_id_list": "10425206;10558993;10559218;10677481;10835357;10882139;11027271;11356169;11790793;12829629;1310260;14517221;14711372;15060529;16380219;17223360;17418816;17761950;18299245;18556348;19043829;19172745;20233797;20457939;20538056;22123817;22871568;24277613;26828774;29557506;29604329;31154438;33329381;35051231;35196258;35715726;7711730;8521497;8521498;9003802;9048718;9065481;9099716;9171241;9344464;9399886;9685390;9691089;9706223;9744270", "class_list": "", "function": "Insulin-inducible THRSP maintains mitochondrial function and regulates sphingolipid metabolism in human adipocytes. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-451a might participate in the free fatty acid-induced hepatic steatosis by regulating the expression of the THRSP gene., [RefSeq, PubMed]; Plays a role in the regulation of lipogenesis, especially in lactating mammary gland. Important for the biosynthesis of triglycerides with medium-length fatty acid chains. May modulate lipogenesis by interacting with MID1IP1 and preventing its interaction with ACACA (By similarity). May function as transcriptional coactivator. May modulate the transcription factor activity of THRB., [UniProtKB, PubMed, PubMed]; THRSP identified as a potential hepatocellular carcinoma marker by integrated bioinformatics analysis and experimental validation., [RefSeq, PubMed]; The protein encoded by this gene is similar to the gene product of S14, a rat gene whose expression is limited to liver and adipose tissue and is controlled by nutritional and hormonal factors. This gene has been shown to be expressed in liver and adipocytes, particularly in lipomatous modules. It is also found to be expressed in lipogenic breast cancers, which suggests a role in controlling tumor lipid metabolism. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R4W7", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0140678 molecular function inhibitor activity;GO:0140677 molecular function activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006629 lipid metabolic process;GO:0006853 carnitine shuttle;GO:0046890 regulation of lipid biosynthetic process;GO:0010866 regulation of triglyceride biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q92748-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q969M1-1", "uniprot_id": [ { "id": "TM40L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q969M1", "type": "external" } ], "mass": 33917.0, "length": 308, "protein_name": "Mitochondrial import receptor subunit TOM40B", "gene_name": "TOMM40L", "organism": "Human", "refseq_name": "mitochondrial import receptor subunit TOM40B isoform 2", "refseq_ac": [ { "id": "NP_001273302", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273302", "type": "external" } ], "gene_names_uniprotkb": "TOMM40L; TOMM40B", "gene_names_refseq": "TOMM40B; TOMM40L", "protein_names_uniprotkb": "Mitochondrial import receptor subunit TOM40B; Protein TOMM40-like", "protein_names_refseq": "mitochondrial import receptor subunit TOM40B isoform 2; mitochondrial import receptor subunit TOM40B; protein TOMM40-like; translocase of outer mitochondrial membrane 40 homolog-like", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); neurodegenerative disease (Disease Ontology:DOID:1289)", "pathway": " (hsa:84134)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "16959974;20877624;26992070;28218747;28832583;28904123;29242379;29393594;29557506;30429286;31844290;32387766;32897882;32938616;32983136;33016906;33912179;33968037;34357683;34509645;35051231;36241641", "class_list": "", "function": "APOEvarepsilon4-TOMM40L Haplotype Increases the Risk of Mild Cognitive Impairment Conversion to Alzheimer's Disease., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Potential channel-forming protein implicated in import of protein precursors into mitochondria., [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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7Z4U0;D3DVG9", "ec_number_list": [], "go_molecular_function": "GO:0015288 porin activity;GO:0008320 protein transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0046930 pore complex;GO:0032991 protein-containing complex;GO:0005742 mitochondrial outer membrane translocase complex", "go_biological_process": "GO:0006811 monoatomic ion transport;GO:0030150 protein import into mitochondrial matrix", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q969M1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96A98-1", "uniprot_id": [ { "id": "TIP39_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96A98", "type": "external" } ], "mass": 11202.0, "length": 100, "protein_name": "Tuberoinfundibular peptide of 39 residues", "gene_name": "PTH2", "organism": "Human", "refseq_name": "parathyroid hormone 2 preproprotein", "refseq_ac": [ { "id": "NP_848544", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_848544", "type": "external" } ], "gene_names_uniprotkb": "PTH2; TIP39; TIPF39", "gene_names_refseq": "PTH2; TIP39", "protein_names_uniprotkb": "Tuberoinfundibular peptide of 39 residues; Parathyroid hormone 2; TIP39", "protein_names_refseq": "parathyroid hormone 2 preproprotein; tuberoinfundibular 39 residue protein; tuberoinfundibular peptide of 39 residues", "tax_id": 9606, "disease": "", "pathway": " (hsa:113091); (R-HSA-373080); (R-HSA-418555)", "pathway_count": 3, "publication_count": 80, "publication_id_list": "10097073;11007482;11297558;11818570;11861531;12036966;12058044;12098667;12106601;12180353;12559132;12754053;12860470;13549488;14671004;14988434;1517224;15498814;15765929;15769620;15951850;16313925;16602827;16687412;16923326;17168849;18044684;18577758;18801728;19105585;19401215;19876791;19929708;20381629;20966082;21036126;2163110;2417744;24687066;2491850;2553411;2553705;26417854;27122244;28094886;2871555;29443750;29602314;30833991;3127824;31279028;31399091;31983287;32226383;32497535;32540603;32618402;32715661;33049737;35051231;3616618;6085243;6950381;7797535;8082781;8198617;8340388;8386612;8397094;8514797;8557170;8612563;8672451;8732687;8770894;8906787;9064337;9263355;9417641;9651336", "class_list": "", "function": "Bit1 promotes TGF-beta2 induced alpha-SMA expression and acts as an positive regulator of EMT., [RefSeq, PubMed]; Modulator of endoplasmic reticulum calcium signalling, [RefSeq, PubMed]; Plays a role as a potent and selective agonist of PTH2R resulting in adenyl cyclase activation and intracellular calcium levels elevation. Induces protein kinase C beta activation, recruitment of beta-arrestin and PTH2R internalization. May inhibit cell proliferation via its action on PTH2R activation. Neuropeptide which may also have a role in spermatogenesis. May activate nociceptors and nociceptive circuits., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The results demonstrate that TIP39 and the PTH2R are expressed in the brain of primates in locations that suggest involvement in regulation of fear, anxiety, reproductive behaviors, release of pituitary hormones, and nociception., [RefSeq, PubMed]; This gene encodes the precursor of a peptide hormone that shares sequence similarity with the parathyroid hormone. This gene is expressed in various regions of the brain where it plays a role in the release of pituitary hormones, anxiety and nociception. The encoded precursor protein is proteolytically processed to generate the biologically active neuropeptide. [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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q96DJ4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0007218 neuropeptide signaling pathway", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q96A98-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96B49-1", "uniprot_id": [ { "id": "TOM6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96B49", "type": "external" } ], "mass": 8002.0, "length": 74, "protein_name": "Mitochondrial import receptor subunit TOM6 homolog", "gene_name": "TOMM6", "organism": "Human", "refseq_name": "mitochondrial import receptor subunit TOM6 homolog", "refseq_ac": [ { "id": "NP_001127965", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127965", "type": "external" } ], "gene_names_uniprotkb": "TOMM6; OBTP; TOM6", "gene_names_refseq": "TOM6; TOMM6", "protein_names_uniprotkb": "Mitochondrial import receptor subunit TOM6 homolog; Overexpressed breast tumor protein; Translocase of outer membrane 6 kDa subunit homolog", "protein_names_refseq": "mitochondrial import receptor subunit TOM6 homolog; translocase of outer membrane 6 kDa subunit homolog; translocase of outer mitochondrial membrane 6 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:100188893); (R-HSA-1268020); (R-HSA-5205685)", "pathway_count": 3, "publication_count": 89, "publication_id_list": "10.1101/2023.09.13.557529;14726512;15254020;15644312;15683237;16185709;16849325;17510655;18174896;18331822;18678864;19409522;19432818;19453276;19767391;19962426;20112406;20126261;20593814;20712405;21115803;21194381;21617041;21750375;23041349;23597483;23811401;24660806;24715725;24751536;24784582;25315652;25418920;25474007;25527497;26116755;26154972;26365381;26697887;26811146;26929215;26992070;27035970;27247382;27846572;27920218;28063628;28228285;28832583;28904123;29242379;29393594;29394115;29557506;29632046;29995846;30315122;30429286;30484775;30620550;31844290;31848261;32157095;32265295;32296703;32387766;32488085;32502341;32938616;33298915;33691108;33936100;33968037;34171305;34357683;34561969;34846842;35051231;35254053;35289036;35318648;36010968;36215666;36241641;36284347;38287189;38838015;39534244;40080546", "class_list": "", "function": "Component of the translocase of the outer membrane of mitochondria (TOM) complex essential for the recognition and translocation of cytosolically synthesized mitochondrial preproteins (PubMed:40080546). The TOM complex associates with the ion channel VDAC2 and PINK1 kinase at depolarized mitochondria, this interaction stabilizes PINK1 at the outer mitochondrial membrane and triggers downstream mitophagy by the recruitment of the E3 ubiquitin ligase PRKN (PubMed:40080546)., [UniProtKB, PubMed]; The human counterparts of Tom5 and Tom6, together with the other components including Tom7, were identified in the preprotein translocase complex., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "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": "B2DG15;Q9UH52", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005742 mitochondrial outer membrane translocase complex", "go_biological_process": "GO:0045040 protein insertion into mitochondrial outer membrane;GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "Q96B49-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96MW7-1", "uniprot_id": [ { "id": "TIGD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96MW7", "type": "external" } ], "mass": 67299.0, "length": 591, "protein_name": "Tigger transposable element-derived protein 1", "gene_name": "TIGD1", "organism": "Human", "refseq_name": "tigger transposable element-derived protein 1", "refseq_ac": [ { "id": "NP_663748", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_663748", "type": "external" } ], "gene_names_uniprotkb": "TIGD1", "gene_names_refseq": "EEYORE; TIGD1", "protein_names_uniprotkb": "Tigger transposable element-derived protein 1", "protein_names_refseq": "tigger transposable element-derived protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:200765)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "18452278;18669648;25892735;26992070;28514659;28834231;28904123;29557506;29769354;30548305;31844290;31848261;32387766;32488085;32938616;33298915;33968037;34087483;34509645;35051231;35254053;35580925;36010968;36215666;37441804;39173230", "class_list": "", "function": "Exploring Cancer Dependency Map genes and immune subtypes in colon cancer, in which TIGD1 contributes to colon cancer progression., [RefSeq, PubMed]; Inding provides evidence that TIGD1 involve in the cell cycle. These findings provide fresh insight into our understanding of TEs in cancers. Next, the detailed mechanism of TIGD1 needs to be studied in the future., [RefSeq, PubMed]; MiR-137 mediated high expression of TIGD1 promotes migration, invasion, and suppresses apoptosis of lung adenocarcinoma., [RefSeq, PubMed]; The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q6P4D2;Q6PIF9", "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": 2.9, "record_id": "Q96MW7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BQJ4-1", "uniprot_id": [ { "id": "TMM47_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BQJ4", "type": "external" } ], "mass": 19998.0, "length": 181, "protein_name": "Transmembrane protein 47", "gene_name": "TMEM47", "organism": "Human", "refseq_name": "transmembrane protein 47", "refseq_ac": [ { "id": "NP_113630", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_113630", "type": "external" } ], "gene_names_uniprotkb": "TMEM47; BCMP1; TM4SF10", "gene_names_refseq": "BCMP1; TM4SF10; TMEM47; VAB-9", "protein_names_uniprotkb": "Transmembrane protein 47; Brain cell membrane protein 1; Transmembrane 4 superfamily member 10", "protein_names_refseq": "brain cell membrane protein 1; transmembrane 4 superfamily member 10; transmembrane protein 47", "tax_id": 9606, "disease": "", "pathway": " (hsa:83604)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11230166;11472633;15345028;21881001;24603971;25489052;25892735;27846572;29557506;32161166;32694168;32945373;33592498;33745390;35051231;36284347", "class_list": "", "function": "A 4-transmembrane protein, related to PMP22/EMPs and the Claudins, localizes to the plasma membrane and the ER. The mRNA is present in high amounts in brain., [RefSeq, PubMed]; Clinical significance and functional role of transmembrane protein 47 (TMEM47) in chemoresistance of hepatocellular carcinoma., [RefSeq, PubMed]; Overexpression of TMEM47 Induces Tamoxifen Resistance in Human Breast Cancer Cells., [RefSeq, PubMed]; Regulates cell junction organization in epithelial cells. May play a role in the transition from adherens junction to tight junction assembly. May regulate F-actin polymerization required for tight junctional localization dynamics and affect the junctional localization of PARD6B. During podocyte differentiation may negatively regulate activity of FYN and subsequently the abundance of nephrin (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Single nucleotide polymorphisms, but no disease-associated mutations, were identified in X-linked mental retardation patients. Publication Status: Online-Only, [RefSeq, PubMed]; TM4SF10, possibly through ADAP, may regulate Fyn activity, [RefSeq, PubMed]; TMEM147 interacts with lamin B receptor, regulates its localization and levels, and affects cholesterol homeostasis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the PMP22/EMP/claudin protein family. The encoded protein is localized to the ER and the plasma membrane. In dogs, transcripts of this gene exist at high levels in the brain. [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": "Q5JR44", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0005912 adherens junction", "go_biological_process": "GO:0098609 cell-cell adhesion", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q9BQJ4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BVC6-1", "uniprot_id": [ { "id": "TM109_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BVC6", "type": "external" } ], "mass": 26210.0, "length": 243, "protein_name": "Voltage-gated monoatomic cation channel TMEM109", "gene_name": "TMEM109", "organism": "Human", "refseq_name": "voltage-gated monoatomic cation channel TMEM109 precursor", "refseq_ac": [ { "id": "NP_076997", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_076997", "type": "external" } ], "gene_names_uniprotkb": "TMEM109", "gene_names_refseq": "SND3; TMEM109; hSND3", "protein_names_uniprotkb": "Voltage-gated monoatomic cation channel TMEM109; Mg23; Mitsugumin-23; Transmembrane protein 109", "protein_names_refseq": "SRP-independent targeting 3 homolog; mg23; mitsugumin-23; voltage-gated monoatomic cation channel TMEM109 precursor; voltage-gated monoatomic cation channel TMEM109", "tax_id": 9606, "disease": "", "pathway": " (hsa:79073)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "20060811;23542032;24715725;26992070;27452731;28063628;28218747;28510447;28832583;29393594;29437277;29493099;29632711;30315122;30410026;30429286;30833945;31217245;31844290;32350084;32502341;32897882;32938616;32983136;33214551;33298915;33691108;34019948;34171305;34229054;34561969;35051231;35289036;36010968;38665916;40596516", "class_list": "", "function": "Functions as a voltage-gated monoatomic cation channel permeable to both potassium and calcium (By similarity). Plays a role in the cellular response to DNA damage (PubMed:23542032)., [UniProtKB, PubMed, UniProtKB]; MG23 is an essential component of ER-generated lethal signals provoked upon DNA damage, specifying cell fate under pathophysiological conditions., [RefSeq, PubMed]; MG23 plays a protective role against UVC by accumulating alphaBC in the close vicinity of the ER, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0022843 voltage-gated monoatomic cation channel activity", "go_cellular_component": "GO:0070062 extracellular exosome;GO:0033017 sarcoplasmic reticulum membrane;GO:0034702 monoatomic ion channel complex;GO:0005640 nuclear outer membrane", "go_biological_process": "GO:0042771 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;GO:0043069 negative regulation of programmed cell death;GO:0071480 cellular response to gamma radiation", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q9BVC6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BZD6-1", "uniprot_id": [ { "id": "TMG4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BZD6", "type": "external" } ], "mass": 25403.0, "length": 226, "protein_name": "Transmembrane gamma-carboxyglutamic acid protein 4", "gene_name": "PRRG4", "organism": "Human", "refseq_name": "transmembrane gamma-carboxyglutamic acid protein 4 precursor", "refseq_ac": [ { "id": "NP_076986", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_076986", "type": "external" } ], "gene_names_uniprotkb": "PRRG4; PRGP4; TMG4", "gene_names_refseq": "PRGP4; PRRG4; TMG4", "protein_names_uniprotkb": "Transmembrane gamma-carboxyglutamic acid protein 4; Proline-rich Gla protein 4; Proline-rich gamma-carboxyglutamic acid protein 4", "protein_names_refseq": "proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane); proline-rich Gla protein 4; proline-rich gamma-carboxyglutamic acid protein 4; transmembrane gamma-carboxyglutamic acid protein 4 precursor; transmembrane gamma-carboxyglutamic acid protein 4", "tax_id": 9606, "disease": "cholangiocarcinoma (Disease Ontology:DOID:4947)", "pathway": " (hsa:79056)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11171957;23873930;24275569;24357251;25892735;28859078;29769354;31844290;32983136;33037408;33968037;35051231", "class_list": "", "function": "Cellular localization and characterization of cytosolic binding partners for Gla domain-containing proteins PRRG4 and PRRG2., [RefSeq, PubMed]; May control axon guidance across the CNS (PubMed:28859078). Prevents the delivery of ROBO1 at the cell surface and down-regulates its expression (PubMed:28859078)., [UniProtKB, PubMed]; PRRG4 could re-localize hRobo1 from the cell surface, suggesting that PRRG4 is a functional homologue of Comm. Comm is required for axon guidance and synapse formation in the fly, so PRRG4 could contribute to the autistic symptoms of WAGR by disturbing either of these processes in the developing human brain. Erratum:[PLoS Genet. 2017 Oct 23;13(10):e1007061. doi: 10.1371/journal.pgen.1007061. PMID: 29059187] Publication Status: Online-Only, [RefSeq, PubMed]; PRRG4 promotes breast cancer metastasis through the recruitment of NEDD4 and downregulation of Robo1., [RefSeq, PubMed]; The unique genotype identified in this study suggested that haploinsufficiencies of PAX6 or PRRG4 included in this region are candidate genes for severe developmental delay and autistic features characteristic of WAGR syndrome., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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:0004252 serine-type endopeptidase activity;GO:0005509 calcium ion binding;GO:0050699 WW domain binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane", "go_biological_process": "GO:0006508 proteolysis;GO:0007596 blood coagulation", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9BZD6-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0I9-1", "uniprot_id": [ { "id": "TKTL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0I9", "type": "external" } ], "mass": 67877.0, "length": 626, "protein_name": "Transketolase-like protein 2", "gene_name": "TKTL2", "organism": "Human", "refseq_name": "transketolase-like protein 2", "refseq_ac": [ { "id": "NP_115512", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115512", "type": "external" } ], "gene_names_uniprotkb": "TKTL2", "gene_names_refseq": "TKTL2", "protein_names_uniprotkb": "Transketolase-like protein 2; 2.2.1.1", "protein_names_refseq": "testis tissue sperm-binding protein Li 39a; transketolase-like protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:84076)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11230166;17321041;20800603;28514659;29557506;30646877;31844290;33968037;34357683;39894887", "class_list": "", "function": "Homology modelling of TKTL1 and TKTL2 using transketolase (TKT) as template, revealed that both could assume a folded structure like TKT. TKTL1/2 presented a cleft of suitable dimensions between the homodimer surfaces that could accommodate the co-factor-substrate. An appropriate cavity and a hydrophobic nodule were also present in TKTL1/2 and implicated in aminopyrimidine and thiazole ring binding in TKT, respectively. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Plays an essential role in total transketolase activity and cell proliferation in cancer cells; after transfection with anti-TKTL1 siRNA, total transketolase activity dramatically decreases and proliferation was significantly inhibited in cancer cells. Plays a pivotal role in carcinogenesis., [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": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4FVB4;Q8NCT0;Q96M82", "ec_number_list": [ { "id": "2.2.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.2.1.1", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0030976 thiamine pyrophosphate binding;GO:0004802 transketolase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9H0I9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NR96-1", "uniprot_id": [ { "id": "TLR9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NR96", "type": "external" } ], "mass": 115860.0, "length": 1032, "protein_name": "Toll-like receptor 9", "gene_name": "TLR9", "organism": "Human", "refseq_name": "toll-like receptor 9 precursor", "refseq_ac": [ { "id": "NP_059138", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059138", "type": "external" } ], "gene_names_uniprotkb": "TLR9; PRO19605", "gene_names_refseq": "CD289; TLR9", "protein_names_uniprotkb": "Toll-like receptor 9", "protein_names_refseq": "toll-like receptor 9 precursor", "tax_id": 9606, "disease": "sinusitis (Disease Ontology:DOID:0050127); lupus nephritis (Disease Ontology:DOID:0080162); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); acute necrotizing pancreatitis (Disease Ontology:DOID:0080998); dermatomyositis (Disease Ontology:DOID:10223); viral pneumonia (Disease Ontology:DOID:10533); mastitis (Disease Ontology:DOID:10690); Human papillomavirus infectious disease (Disease Ontology:DOID:11166); anogenital venereal wart (Disease Ontology:DOID:11168); allergic conjunctivitis (Disease Ontology:DOID:11204); primary biliary cholangitis (Disease Ontology:DOID:12236); cardiovascular system disease (Disease Ontology:DOID:1287); allergic bronchopulmonary aspergillosis (Disease Ontology:DOID:13166); alcoholic liver cirrhosis (Disease Ontology:DOID:14018); cystic fibrosis (Disease Ontology:DOID:1485); alcohol use disorder (Disease Ontology:DOID:1574); breast cancer (Disease Ontology:DOID:1612); squamous cell carcinoma (Disease Ontology:DOID:1749); hepatitis C (Disease Ontology:DOID:1883); hepatitis B (Disease Ontology:DOID:2043); bronchiolitis obliterans (Disease Ontology:DOID:2799); asthma (Disease Ontology:DOID:2841); pulmonary tuberculosis (Disease Ontology:DOID:2957); IgA glomerulonephritis (Disease Ontology:DOID:2986); interstitial lung disease (Disease Ontology:DOID:3082); chronic granulomatous disease (Disease Ontology:DOID:3265); pulmonary fibrosis (Disease Ontology:DOID:3770); lung non-small cell carcinoma (Disease Ontology:DOID:3908); renal cell carcinoma (Disease Ontology:DOID:4450); allergic rhinitis (Disease Ontology:DOID:4481); proteinuria (Disease Ontology:DOID:576); hepatocellular carcinoma (Disease Ontology:DOID:684); chronic kidney disease (Disease Ontology:DOID:784); perinatal necrotizing enterocolitis (Disease Ontology:DOID:8677); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991); systemic lupus erythematosus (Disease Ontology:DOID:9074); cutaneous leishmaniasis (Disease Ontology:DOID:9111)", "pathway": " (hsa:54106); (R-HSA-109704); (R-HSA-1679131); (R-HSA-168138); (R-HSA-9679191); (R-HSA-975110); (R-HSA-975138); (R-HSA-975155)", "pathway_count": 8, "publication_count": 148, "publication_id_list": "10087012;11022119;11022120;11027663;11073981;11130078;11564765;11960013;12138165;12140561;12297423;12447442;12660731;12975309;1381348;14625308;14716310;14751759;15207506;15226270;15361868;15492225;15767370;16024789;16115318;16286015;16362076;16415873;16522641;16847462;16857668;16959974;16973841;17141195;17275357;17452530;17485511;17662961;17878374;17890055;17932028;18070982;18082565;18166152;18305481;18438411;18509083;18512783;18710948;18794297;18810425;18820679;18931679;19079358;19224918;19438505;19451267;19592493;19805105;19924287;19965672;20223979;20485341;20855885;20865800;20966070;21398612;21402738;21604257;21827948;22164301;22174451;22223641;22401777;22552008;22814904;23641311;23857366;24190977;24272870;24342772;24584101;24715725;24855048;25801024;25880248;26002965;26154972;26992070;27846572;27920218;28228285;28314751;28425720;28467828;28832583;28834231;28904123;29242379;29314611;29393594;29508533;29557506;29632711;29769354;29786170;29945920;30201761;30315122;30524438;31048504;31154438;31530632;31844290;31998317;32157095;32350084;32357974;32387766;32502341;32897882;32983136;33298915;33691108;33717175;33936100;34357683;34433824;34932366;35051231;35154160;35318648;35580925;36284347;36581221;37074911;38169466;38850110;38918662;38943920;39078537;39133967;40980882;7543144;8344253;8837778;9430229;9799232", "class_list": "", "function": "Adenosine deaminase 2 regulates the activation of the toll-like receptor 9 in response to nucleic acids., [RefSeq, PubMed]; Impact of TLR9 and TLR7 gene polymorphisms on prognosis and survival of patients with oral squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Investigation of TLR2 (-196 to -174del) and TLR9 (T-1486C) Gene Polymorphisms Association with Inflammatory Bowel Diseases. Publication Status: Online-Only, [RefSeq, PubMed]; Key component of innate and adaptive immunity (PubMed:14716310). TLRs (Toll-like receptors) control host immune response against pathogens through recognition of molecular patterns specific to microorganisms (PubMed:14716310). TLR9 is a nucleotide-sensing TLR which is activated by unmethylated cytidine-phosphate-guanosine (CpG) dinucleotides (PubMed:14716310). Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response (PubMed:11564765, PubMed:17932028, PubMed:40980882). Also acts via ADCY7, leading to cyclic di-AMP (c-di-AMP) synthesis and activation of the NLRP3 inflammasome (By similarity). Plays a role in defense against systemic mouse cytomegalovirus infection (By similarity). Controls lymphocyte response to Helicobacter infection (By similarity). Upon CpG stimulation, induces B-cell proliferation, activation, survival and antibody production (PubMed:23857366)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Loss of Toll-like receptor 9 protects from hepatocellular carcinoma in murine models of chronic liver disease., [RefSeq, PubMed]; Revealing of TLR-9 gene polymorphisms by qPCR HRM technique and their influence on TLR-9 serum level in acute myeloid leukemia patients: Case-control study., [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 (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. Studies in mice and human indicate that this receptor mediates cellular response to unmethylated CpG dinucleotides in bacterial DNA to mount an innate immune response. [provided by RefSeq, Aug 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": 10, "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": 10, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 10, "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": 48, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 37, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "B3Y661;D1CS56;Q6UVZ2;Q9HD68;Q9HD69;Q9HD70;Q9NYC2;Q9NYC3", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0035197 siRNA binding;GO:0045322 unmethylated CpG binding;GO:0005149 interleukin-1 receptor binding;GO:0038187 pattern recognition receptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0045577 regulation of B cell differentiation;GO:0032727 positive regulation of interferon-alpha production;GO:0032741 positive regulation of interleukin-18 production;GO:1901895 negative regulation of ATPase-coupled calcium transmembrane transporter activity;GO:0001774 microglial cell activation", "synthesized_glycan_count": 0, "hit_score": 16.5, "record_id": "Q9NR96-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NR97-1", "uniprot_id": [ { "id": "TLR8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NR97", "type": "external" } ], "mass": 119828.0, "length": 1041, "protein_name": "Toll-like receptor 8", "gene_name": "TLR8", "organism": "Human", "refseq_name": "toll-like receptor 8 isoform 1", "refseq_ac": [ { "id": "NP_057694", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057694", "type": "external" } ], "gene_names_uniprotkb": "TLR8; PRO286", "gene_names_refseq": "CD288; IMD98; TLR-8; TLR8; hTLR8", "protein_names_uniprotkb": "Toll-like receptor 8", "protein_names_refseq": "toll-like receptor 8 isoform 1", "tax_id": 9606, "disease": "immunodeficiency 98 (Disease Ontology:DOID:0061068); COVID-19 (Disease Ontology:DOID:0080600); severe COVID-19 (Disease Ontology:DOID:0081013); anogenital venereal wart (Disease Ontology:DOID:11168); respiratory syncytial virus infectious disease (Disease Ontology:DOID:1273); alcohol use disorder (Disease Ontology:DOID:1574); asthma (Disease Ontology:DOID:2841); pulmonary tuberculosis (Disease Ontology:DOID:2957); atopic dermatitis (Disease Ontology:DOID:3310); allergic rhinitis (Disease Ontology:DOID:4481); rhinitis (Disease Ontology:DOID:4483)", "pathway": " (hsa:51311); (R-HSA-1679131); (R-HSA-168181); (R-HSA-9705671)", "pathway_count": 4, "publication_count": 134, "publication_id_list": "10411278;11022119;11022120;11812998;12019269;12032557;12692549;12759408;12975309;14716310;14976261;14976262;15208624;15226270;16415873;16737960;16857668;16973841;17275357;17452530;17932028;18082565;18166152;18305481;18509083;18810425;18820679;18931679;19079358;19159218;19451267;19537370;19924287;19965672;20855885;20865800;21398612;21402738;21604257;22164301;22223641;22941947;23123977;23520111;24190977;24342772;24855048;25297876;25599397;26929371;27387373;28411811;29152046;29155428;29393594;29557506;29632046;29786170;31283223;31385713;31530632;31778653;31844290;31850239;32157095;32353859;32428392;32433612;32589897;32726803;32728199;32953130;32979938;32983136;33024073;33043033;33060197;33097660;33110251;33349665;33360543;33372174;33372854;33392160;33396605;33440148;33479219;33495715;33512449;33514628;33567255;33592498;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33963333;33989516;33990585;34021074;34054808;34084167;34110168;34166398;34185709;34239064;34290717;34341353;34375313;34400613;34439781;34452305;34471099;34502139;34597346;34932366;34981838;35051231;35102342;35580925;35643212;37051252;37074911;37665747;37723501;38102721;38631842;38971858;8344253;9799232", "class_list": "", "function": "Endosomal receptor that plays a key role in innate and adaptive immunity (PubMed:25297876, PubMed:32433612). Controls host immune response against pathogens through recognition of RNA degradation products specific to microorganisms that are initially processed by RNASET2 (PubMed:31778653). Recognizes GU-rich single-stranded RNA (GU-rich RNA) derived from SARS-CoV-2, SARS-CoV-1 and HIV-1 viruses (PubMed:33718825). Upon binding to agonists, undergoes dimerization that brings TIR domains from the two molecules into direct contact, leading to the recruitment of TIR-containing downstream adapter MYD88 through homotypic interaction (PubMed:23520111, PubMed:25599397, PubMed:26929371, PubMed:33718825). In turn, the Myddosome signaling complex is formed involving IRAK4, IRAK1, TRAF6, TRAF3 leading to activation of downstream transcription factors NF-kappa-B and IRF7 to induce pro-inflammatory cytokines and interferons, respectively (PubMed:16737960, PubMed:17932028, PubMed:29155428)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Erythroid-intrinsic activation of TLR8 impairs erythropoiesis in inherited anemia. Publication Status: Online-Only, [RefSeq, PubMed]; TLR8 aggravates skin inflammation and fibrosis by activating skin fibroblasts in systemic sclerosis. Erratum:[Rheumatology (Oxford). 2024 May 3;63(6):1756. doi: 10.1093/rheumatology/keae193. PMID: 38545742], [RefSeq, PubMed]; TLR8 escapes X chromosome inactivation in human monocytes and CD4[+] T cells. Publication Status: Online-Only, [RefSeq, PubMed]; TLR8-activating miR-146a-3p is an intermediate signal contributing to fetal membrane inflammation in response to bacterial LPS., [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 (PAMPs) 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. This gene is predominantly expressed in lung and peripheral blood leukocytes, and lies in close proximity to another family member, TLR7, on chromosome X. [provided by RefSeq, Jul 2008]., [RefSeq]; Toll-Like Receptor mRNA Levels in Schizophrenia: Association With Complement Factors and Cingulate Gyrus Cortical Thinning., [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": 20, "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": 20, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 20, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 9, "reported_phosphosites": 0, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 65, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 17, "disease_count": 11, "glyco_site_count": 22, "binding_glycan_count": 0, "secondary_ac_list": "B3Y654;D1CS70;D1CS76;Q495P4;Q6UXL6;Q9NYG9", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0042802 identical protein binding;GO:0003725 double-stranded RNA binding;GO:0003727 single-stranded RNA binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane;GO:0009897 external side of plasma membrane;GO:0010008 endosome membrane", "go_biological_process": "GO:0032727 positive regulation of interferon-alpha production;GO:0006954 inflammatory response;GO:0045087 innate immune response;GO:0051607 defense response to virus;GO:0032755 positive regulation of interleukin-6 production", "synthesized_glycan_count": 0, "hit_score": 17.3, "record_id": "Q9NR97-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NX00-1", "uniprot_id": [ { "id": "TM160_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NX00", "type": "external" } ], "mass": 19658.0, "length": 188, "protein_name": "Transmembrane protein 160", "gene_name": "TMEM160", "organism": "Human", "refseq_name": "transmembrane protein 160 precursor", "refseq_ac": [ { "id": "NP_060324", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060324", "type": "external" } ], "gene_names_uniprotkb": "TMEM160", "gene_names_refseq": "TMEM160", "protein_names_uniprotkb": "Transmembrane protein 160", "protein_names_refseq": "transmembrane protein 160 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:54958)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "23186163;25418920;25576301;26154972;27600516;27846572;28218747;28514659;28832583;28904123;29242379;29437277;29493099;29508533;29557506;30429286;30779550;31844290;31848261;32157095;32357974;32502341;32983136;33592498;33936100;33981976;34725712;34932366;34936870;35580925;36010968;36217717;38454413;39534244", "class_list": "", "function": "Knockdown of TMEM160 leads to an increase in reactive oxygen species generation and the induction of the mitochondrial unfolded protein response., [RefSeq, PubMed]; TMEM160 promotes tumor immune evasion and radiotherapy resistance via PD-L1 binding in colorectal 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": 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": 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": "Q9BU41", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q9NX00-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZC2-1", "uniprot_id": [ { "id": "TREM2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZC2", "type": "external" } ], "mass": 25447.0, "length": 230, "protein_name": "Triggering receptor expressed on myeloid cells 2", "gene_name": "TREM2", "organism": "Human", "refseq_name": "triggering receptor expressed on myeloid cells 2 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001258750", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258750", "type": "external" } ], "gene_names_uniprotkb": "TREM2", "gene_names_refseq": "AD17; PLOSL2; TREM-2; TREM2; Trem2a; Trem2b; Trem2c", "protein_names_uniprotkb": "Triggering receptor expressed on myeloid cells 2; TREM-2; Triggering receptor expressed on monocytes 2", "protein_names_refseq": "triggering receptor expressed on monocytes 2; triggering receptor expressed on myeloid cells 2 isoform 2 precursor; triggering receptor expressed on myeloid cells 2a", "tax_id": 9606, "disease": "Alzheimer's disease 17 (Disease Ontology:DOID:0110049); syphilis (Disease Ontology:DOID:4166); frontotemporal dementia (Disease Ontology:DOID:9255); polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 (MONDO:MONDO:0020750)", "pathway": " (hsa:54209); (R-HSA-198933); (R-HSA-2172127); (R-HSA-2424491); (R-HSA-416700)", "pathway_count": 5, "publication_count": 186, "publication_id_list": "10021361;10026222;10049942;10072481;10224278;10449773;10499918;10520995;10604985;10648410;10744696;10746781;10799849;10811803;10940905;11048639;11094073;11114375;11265639;11368773;11390650;11489943;11513152;11556966;11602640;11807247;11857637;11858820;11861603;11907067;11955593;11955595;11955599;12080485;12213321;12471105;12483297;12588680;12645956;12660731;12668644;12754369;12776204;12882840;12911816;12913093;12925681;14707061;14719373;14970179;15034010;15136729;15155468;15184383;15187158;15218527;15265913;15304001;15365099;15534202;15536084;15541655;15550623;15557162;15580655;15607800;15778510;15781451;15800062;15851719;15864273;15883308;15884055;15940674;16014749;16091383;16129954;16339513;16380601;16551255;16623599;16715077;16737824;16754721;16893496;16904340;16920917;16928187;16933987;16938345;17012248;17045824;17057721;17110943;17202323;17237375;17318185;17337780;17483134;17641029;18031695;18037897;18055229;18209062;18234675;18593354;18624290;18629938;18691974;18957693;19149696;19359216;19592130;19592646;19858347;20093094;20484116;20730098;20865034;20890284;21241660;21659545;21800138;21841309;21877119;22396535;23150908;23399524;23695528;2374928;23929856;24078628;24305946;24899047;24990881;25615530;25703557;25716998;25957402;26284469;26300885;27067662;27477018;27589997;27995897;28768830;28802038;28855300;28855301;28923481;29142083;29518356;29752066;29794134;30429286;30442540;31154438;32157095;32387766;32983136;33968037;35580925;36095053;37235776;38899702;38915213;38981007;39032157;7531291;7542404;8178173;8663278;8702662;8955171;8986718;8995416;9285412;9314561;9396765;9490415;9625766;9655483;9690470;9700512;9730896;9830044", "class_list": "", "function": "A systematic review of the role of TREM2 in Alzheimer's disease., [RefSeq, PubMed]; Forms a receptor signaling complex with TYROBP which mediates signaling and cell activation following ligand binding (PubMed:10799849). Acts as a receptor for amyloid-beta protein 42, a cleavage product of the amyloid-beta precursor protein APP, and mediates its uptake and degradation by microglia (PubMed:27477018, PubMed:29518356). Binding to amyloid-beta 42 mediates microglial activation, proliferation, migration, apoptosis and expression of pro-inflammatory cytokines, such as IL6R and CCL3, and the anti-inflammatory cytokine ARG1 (By similarity). Acts as a receptor for lipoprotein particles such as LDL, VLDL, and HDL and for apolipoproteins such as APOA1, APOA2, APOB, APOE, APOE2, APOE3, APOE4, and CLU and enhances their uptake in microglia (PubMed:27477018). Binds phospholipids (preferably anionic lipids) such as phosphatidylserine, phosphatidylethanolamine, phosphatidylglycerol and sphingomyelin (PubMed:29794134). Regulates microglial proliferation by acting as an upstream regulator of the Wnt/beta-catenin signaling cascade (By similarity). Required for microglial phagocytosis of apoptotic neurons (PubMed:24990881). Also required for microglial activation and phagocytosis of myelin debris after neuronal injury and of neuronal synapses during synapse elimination in the developing brain (By similarity). Regulates microglial chemotaxis and process outgrowth, and also the microglial response to oxidative stress and lipopolysaccharide (By similarity). It suppresses PI3K and NF-kappa-B signaling in response to lipopolysaccharide; thus promoting phagocytosis, suppressing pro-inflammatory cytokine and nitric oxide production, inhibiting apoptosis and increasing expression of IL10 and TGFB (By similarity). During oxidative stress, it promotes anti-apoptotic NF-kappa-B signaling and ERK signaling (By similarity). Plays a role in microglial MTOR activation and metabolism (By similarity). Regulates age-related changes in microglial numbers (PubMed:29752066). Triggers activation of the immune responses in macrophages and dendritic cells (PubMed:10799849). Mediates cytokine-induced formation of multinucleated giant cells which are formed by the fusion of macrophages (By similarity). In dendritic cells, receptor of SEMA6D with PLEXNA1 as coreceptor and mediates up-regulation of chemokine receptor CCR7 and dendritic cell maturation and survival (PubMed:11602640). Involved in the positive regulation of osteoclast differentiation (PubMed:12925681)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Homozygosity for R47H in TREM2 and the Risk of Alzheimer's Disease., [RefSeq, PubMed]; Microglia Gravitate toward Amyloid Plaques Surrounded by Externalized Phosphatidylserine via TREM2., [RefSeq, PubMed]; Multimerization of TREM2 is impaired by Alzheimer's disease-associated variants., [RefSeq, PubMed]; Mutations in two genes encoding different subunits of a receptor signaling complex (TYROBP and TREM2) result in an identical disease phenotype Erratum:[Am J Hum Genet. 2003 Jan;72(1):225.], [RefSeq, PubMed]; Nasu-Hakola disease with a novel genetic mutations in the TREM2 gene Erratum:[J Neurol Neurosurg Psychiatry. 2003 Aug;74(8):1165], [RefSeq, PubMed]; Results demonstrate a critical role for TREM-2 in the differentiation of mononuclear myeloid precursors into functional multinucleated osteoclasts, [RefSeq, PubMed]; The human TREM gene cluster at 6p21.1 encodes both activating and inhibitory single IgV domain receptors and includes TREM2., [RefSeq, PubMed]; This gene encodes a membrane protein that forms a receptor signaling complex with the TYRO protein tyrosine kinase binding protein. The encoded protein functions in immune response and may be involved in chronic inflammation by triggering the production of constitutive inflammatory cytokines. Defects in this gene are a cause of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL). Alternative splicing results in multiple transcript variants encoding different isoforms. [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": 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": 7, "reported_glycation": 0, "reported_snv": 8, "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": "Q8N5H8;Q8WYN6", "ec_number_list": [], "go_molecular_function": "GO:0019209 kinase activator activity;GO:0042834 peptidoglycan binding;GO:0004888 transmembrane signaling receptor activity;GO:0005543 phospholipid binding;GO:0030215 semaphorin receptor binding", "go_cellular_component": "GO:0002116 semaphorin receptor complex;GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0044853 plasma membrane raft", "go_biological_process": "GO:0030316 osteoclast differentiation;GO:1904141 positive regulation of microglial cell migration;GO:1903376 regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway;GO:0070345 negative regulation of fat cell proliferation;GO:2001171 positive regulation of ATP biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 18.9, "record_id": "Q9NZC2-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000100000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y584-1", "uniprot_id": [ { "id": "TIM22_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y584", "type": "external" } ], "mass": 20031.0, "length": 194, "protein_name": "Mitochondrial import inner membrane translocase subunit Tim22", "gene_name": "TIMM22", "organism": "Human", "refseq_name": "mitochondrial import inner membrane translocase subunit Tim22", "refseq_ac": [ { "id": "NP_037469", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037469", "type": "external" } ], "gene_names_uniprotkb": "TIMM22; TEX4; TIM22", "gene_names_refseq": "COXPD43; TEX4; TIM22; TIMM22", "protein_names_uniprotkb": "Mitochondrial import inner membrane translocase subunit Tim22; Testis-expressed protein 4", "protein_names_refseq": "mitochondrial import inner membrane translocase subunit Tim22; testis-expressed protein 4; testis-expressed sequence 4; translocase of inner mitochondrial membrane 22 homolog", "tax_id": 9606, "disease": "combined oxidative phosphorylation deficiency 43 (Disease Ontology:DOID:0112116); mitochondrial myopathy (Disease Ontology:DOID:699)", "pathway": " (hsa:29928); (R-HSA-1268020); (R-HSA-9837999)", "pathway_count": 3, "publication_count": 74, "publication_id_list": "10611480;11923310;12198491;14623864;14726512;15254020;15522782;15644312;15683237;15870080;16115876;16185709;16849325;17101804;17297443;17510655;17579211;18174896;18678864;19409522;19453276;19767391;19841671;19962426;20593814;21750375;22262461;22710082;23041349;23201127;23597483;23811401;23931759;24315374;24520911;25315652;25576301;25892735;26504172;26697887;26923599;27265872;27496948;27642048;27718247;28377575;28396416;29301859;29557506;29932645;30120231;30429286;30452684;31154438;31327635;31695197;31844290;31848261;32157095;32901109;33125709;33257573;33476211;33968037;33981976;34171305;34357683;34704252;34943861;35051231;35870450;36629048;38294104;7623837", "class_list": "", "function": "Cryo-EM structure of the human mitochondrial translocase TIM22 complex., [RefSeq, PubMed]; Defining the architecture of the human TIM22 complex by chemical crosslinking., [RefSeq, PubMed]; Essential core component of the TIM22 complex, a complex that mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. In the TIM22 complex, it constitutes the voltage-activated and signal-gated channel. Forms a twin-pore translocase that uses the membrane potential as external driving force in 2 voltage-dependent steps (By similarity)., [UniProtKB, UniProtKB]; In contrast to yeast, only a small fraction of Tim9-Tim10a-Tim10b complex is in a stable association with Tim22., [RefSeq, PubMed]; Multipass transmembrane proteins are brought into mitochondria and inserted into the mitochondrial inner membrane by way of the TIM22 complex. This complex has six subunits and is a twin-pore translocase. The protein encoded by this gene is a subunit of TIM22 and represents the voltage-activated and signal-gated channel. [provided by RefSeq, Jul 2016]., [RefSeq]; TIM22 and TIM29 inhibit HBV replication by up-regulating SRSF1 expression., [RefSeq, PubMed]; The TIM22 complex mediates the import of sideroflexins and is required for efficient mitochondrial one-carbon metabolism., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q9NWI8", "ec_number_list": [], "go_molecular_function": "GO:0008320 protein transmembrane transporter activity;GO:0030943 mitochondrion targeting sequence binding;GO:0140318 protein transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0042721 TIM22 mitochondrial import inner membrane insertion complex", "go_biological_process": "GO:0045039 protein insertion into mitochondrial inner membrane", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q9Y584-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0PJX8-1", "uniprot_id": [ { "id": "TMM82_HUMAN", "url": "https://www.uniprot.org/uniprot/A0PJX8", "type": "external" } ], "mass": 37222.0, "length": 343, "protein_name": "Transmembrane protein 82", "gene_name": "TMEM82", "organism": "Human", "refseq_name": "transmembrane protein 82", "refseq_ac": [ { "id": "NP_001013663", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013663", "type": "external" } ], "gene_names_uniprotkb": "TMEM82", "gene_names_refseq": "TMEM82", "protein_names_uniprotkb": "Transmembrane protein 82", "protein_names_refseq": "transmembrane protein 82", "tax_id": 9606, "disease": "", "pathway": " (hsa:388595)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "23481700;30524438;32983136", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RP27;Q5VVD4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "A0PJX8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NGC4-1", "uniprot_id": [ { "id": "TLCD2_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NGC4", "type": "external" } ], "mass": 28733.0, "length": 264, "protein_name": "TLC domain-containing protein 2", "gene_name": "TLCD2", "organism": "Human", "refseq_name": "TLC domain-containing protein 2", "refseq_ac": [ { "id": "NP_001157879", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157879", "type": "external" } ], "gene_names_uniprotkb": "TLCD2", "gene_names_refseq": "TLCD2", "protein_names_uniprotkb": "TLC domain-containing protein 2", "protein_names_refseq": "TLC domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:727910)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "30509349;32161166;32488085;36241646", "class_list": "", "function": "Inhibition of FLD-1 or TLCD1/2 prevents lipotoxicity by allowing increased levels of membrane phospholipids that contain fluidizing long-chain polyunsaturated fatty acids. Publication Status: Online-Only, [RefSeq, PubMed]; Regulates the composition and fluidity of the plasma membrane (PubMed:30509349). Inhibits the incorporation of membrane-fluidizing phospholipids containing omega-3 long-chain polyunsaturated fatty acids (LCPUFA) and thereby promotes membrane rigidity (PubMed:30509349). Does not appear to have any effect on LCPUFA synthesis (PubMed:30509349)., [UniProtKB, PubMed]; TLCD1 and TLCD2 regulate cellular phosphatidylethanolamine composition and promote the progression of non-alcoholic steatohepatitis. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007009 plasma membrane organization;GO:0055091 phospholipid homeostasis;GO:0071709 membrane assembly;GO:0097035 regulation of membrane lipid distribution", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "A6NGC4-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75509-1", "uniprot_id": [ { "id": "TNR21_HUMAN", "url": "https://www.uniprot.org/uniprot/O75509", "type": "external" } ], "mass": 71845.0, "length": 655, "protein_name": "Tumor necrosis factor receptor superfamily member 21", "gene_name": "TNFRSF21", "organism": "Human", "refseq_name": "tumor necrosis factor receptor superfamily member 21 precursor", "refseq_ac": [ { "id": "NP_055267", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055267", "type": "external" } ], "gene_names_uniprotkb": "TNFRSF21; DR6; PRO868", "gene_names_refseq": "BM-018; CD358; DR6; TNFRSF21", "protein_names_uniprotkb": "Tumor necrosis factor receptor superfamily member 21; Death receptor 6", "protein_names_refseq": "TNFR-related death receptor 6; death receptor 6; tumor necrosis factor receptor superfamily member 21 precursor; tumor necrosis factor receptor superfamily member 21", "tax_id": 9606, "disease": "", "pathway": " (hsa:27242); (R-HSA-1989781)", "pathway_count": 2, "publication_count": 79, "publication_id_list": "10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10777541;11267664;11485735;11714751;12118000;12177166;12505311;12582161;12975309;15067378;15130092;15301860;15635043;16380219;16972786;18540824;18578522;18719978;18848529;19088433;19654028;19710929;19934321;20110263;21463639;21725297;22525750;22761420;23090970;23559013;24190977;24196956;25576301;25813380;28743875;28904123;29242379;29314611;29391424;29393594;29557506;29632046;30429286;30459171;30626607;31154438;31530632;31844290;31848261;32157095;32299063;32350084;32357974;32387766;32488085;32938616;32983136;33592498;33968037;34012073;34171305;34357683;34509645;34775426;35051231;35220214;35251023;35318648;35580925;36010968;37944567;7685352;7892212;8647822;9012850;9714541;9748239", "class_list": "", "function": "CircTNFRSF21, a newly identified circular RNA promotes endometrial carcinoma pathogenesis through regulating miR-1227-MAPK13/ATF2 axis., [RefSeq, PubMed]; DR6 knockout mice are viable and fertile, and show hyperproliferation of T cells when stimulated., [RefSeq, PubMed]; DR6 mediates T cell proliferation and differentiation in mice., [RefSeq, PubMed]; Death Receptor 6 as a Prognostic Marker in Low-grade Glioma., [RefSeq, PubMed]; Gene-based association study of rare variants in children of diverse ancestries implicates TNFRSF21 in the development of allergic asthma., [RefSeq, PubMed]; Long Noncoding RNAs Testis Development Related Gene 1 Aggravates Transforming Growth Factor-beta1-Induced Fibrogenesis and Inflammatory Response of Cardiac Fibroblasts Via miR-605-3p/Tumor Necrosis Factor Receptor Superfamily-21 Axis., [RefSeq, PubMed]; Observational study of genotype prevalence. (HuGE Navigator), [RefSeq, PubMed]; Promotes apoptosis, possibly via a pathway that involves the activation of NF-kappa-B. Can also promote apoptosis mediated by BAX and by the release of cytochrome c from the mitochondria into the cytoplasm. Trophic-factor deprivation triggers the cleavage of surface APP by beta-secretase to release sAPP-beta which is further cleaved to release an N-terminal fragment of APP (N-APP). Negatively regulates oligodendrocyte survival, maturation and myelination. Plays a role in signaling cascades triggered by stimulation of T-cell receptors, in the adaptive immune response and in the regulation of T-cell differentiation and proliferation. Negatively regulates T-cell responses and the release of cytokines such as IL4, IL5, IL10, IL13 and IFNG by Th2 cells. Negatively regulates the production of IgG, IgM and IgM in response to antigens. May inhibit the activation of JNK in response to T-cell stimulation. Also acts as a regulator of pyroptosis: recruits CASP8 in response to reactive oxygen species (ROS) and subsequent oxidation, leading to activation of GSDMC (PubMed:34012073)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the tumor necrosis factor receptor superfamily. The encoded protein activates nuclear factor kappa-B and mitogen-activated protein kinase 8 (also called c-Jun N-terminal kinase 1), and induces cell apoptosis. Through its death domain, the encoded receptor interacts with tumor necrosis factor receptor type 1-associated death domain (TRADD) protein, which is known to mediate signal transduction of tumor necrosis factor receptors. Knockout studies in mice suggest that this gene plays a role in T-helper cell activation, and may be involved in inflammation and immune regulation. [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": 6, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 8, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 8, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 37, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 10, "disease_count": 0, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "B2RDI9;Q0D2P5;Q96D86", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0032693 negative regulation of interleukin-10 production;GO:0032714 negative regulation of interleukin-5 production;GO:0051402 neuron apoptotic process;GO:0006915 apoptotic process;GO:0042130 negative regulation of T cell proliferation", "synthesized_glycan_count": 0, "hit_score": 10.2, "record_id": "O75509-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94826-1", "uniprot_id": [ { "id": "TOM70_HUMAN", "url": "https://www.uniprot.org/uniprot/O94826", "type": "external" } ], "mass": 67455.0, "length": 608, "protein_name": "Mitochondrial import receptor subunit TOM70", "gene_name": "TOMM70", "organism": "Human", "refseq_name": "mitochondrial import receptor subunit TOM70", "refseq_ac": [ { "id": "NP_055635", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055635", "type": "external" } ], "gene_names_uniprotkb": "TOMM70; KIAA0719; TOM70; TOMM70A", "gene_names_refseq": "TOMM70A; TOMM70; Tom70", "protein_names_uniprotkb": "Mitochondrial import receptor subunit TOM70; Mitochondrial precursor proteins import receptor; Translocase of outer membrane 70 kDa subunit; Translocase of outer mitochondrial membrane protein 70", "protein_names_refseq": "mitochondrial import receptor subunit TOM70; mitochondrial precursor proteins import receptor; translocase of outer membrane 70 kDa subunit; translocase of outer mitochondrial membrane 70 homolog A; translocase of outer mitochondrial membrane protein 70", "tax_id": 9606, "disease": "hypothyroidism (Disease Ontology:DOID:1459); congestive heart failure (Disease Ontology:DOID:6000); mitochondrial metabolism disease (Disease Ontology:DOID:700)", "pathway": " (hsa:9868); (R-HSA-1268020); (R-HSA-168928); (R-HSA-5205685); (R-HSA-5689880); (R-HSA-9692916); (R-HSA-9705671)", "pathway_count": 7, "publication_count": 296, "publication_id_list": "10444327;10982817;11566882;11923872;12019269;12200962;12526792;12692549;12759408;12917689;12917691;14661020;14726512;15053880;15208624;15254020;15644312;15683237;15916963;16125763;16127453;16153868;16185709;16214042;16394098;16849325;16901786;16964248;17035307;17081983;17270291;17290220;17392790;17412287;17443180;17510655;17596301;17600090;17761676;17873522;17924679;17980597;17981138;18088087;18172164;18174896;18307765;18331822;18452278;18467330;18578522;18591409;18632802;18636086;18669648;18678864;18691976;18707149;19015242;19017631;19135894;19188362;19363159;19380580;19398035;19398555;19409522;19413330;19415658;19424180;19432818;19453276;19484123;19531363;19608861;19651622;19767391;19838211;19874889;19910467;19962426;20068231;20096447;20126261;20166139;20228808;20230923;20368735;20403326;20501646;20593814;20628368;20712405;21115803;21194381;21239494;21362556;21406692;21571647;21596315;21617041;21659512;21750375;21849505;21962518;22029577;22046132;22085928;22128162;22216260;22223895;22253733;22312431;22941947;23041349;23159851;23186163;23395819;23481700;23483519;23486064;23597483;23811401;23824326;23825189;24056413;24129315;24260525;24275569;24493797;24509444;24622840;24660806;24714562;24751536;24755855;24784582;24854014;24896179;25135833;25197364;25305019;25315652;25474007;25527497;25576301;25578727;25609812;25645385;25764917;25880248;25907116;26116755;26154972;26320399;26365381;26375851;26378163;26697887;26728094;26853435;26992070;27035970;27164085;27203180;27247382;27600516;27920218;28148787;28218747;28228285;28446606;28832583;28834231;28904123;29242379;29294448;29393594;29394115;29493099;29508533;29557506;29632711;29769354;29786170;29789417;29995846;30185776;30315122;30379171;30410026;30429286;30779550;30833945;31034780;31092671;31154438;31231549;31530632;31844290;31848261;31850239;31998317;32157095;32161166;32296703;32350084;32353859;32357974;32387766;32428392;32502341;32589897;32726803;32728199;32897882;32938616;32953130;32979938;32983136;33024073;33060197;33097660;33110251;33214551;33298915;33349665;33360543;33372174;33372854;33392160;33396605;33440148;33479219;33495715;33514628;33567255;33691108;33717175;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33936100;33963333;33968037;33981976;33989516;33990585;34021074;34054808;34084167;34087483;34110168;34166398;34185709;34239064;34290717;34341353;34357683;34375313;34400613;34439781;34452305;34471099;34502139;34509645;34561969;34597346;34932366;35025629;35051231;35102342;35154160;35251023;35318648;35391620;35580925;35643212;36010968;36284347;37051252;37217939;37682539;37938771;38287189;38416681;38665916;38848361;40914422;7578059;9989503", "class_list": "", "function": "Acts as a receptor of the preprotein translocase complex of the outer mitochondrial membrane (TOM complex) (PubMed:12526792). Recognizes and mediates the translocation of mitochondrial preproteins from the cytosol into the mitochondria in a chaperone dependent manner (PubMed:12526792, PubMed:35025629). Mediates TBK1 and IRF3 activation induced by MAVS in response to Sendai virus infection and promotes host antiviral responses during virus infection (PubMed:20628368, PubMed:25609812, PubMed:32728199). Upon Sendai virus infection, recruits HSP90AA1:IRF3:BAX in mitochondrion and the complex induces apoptosis (PubMed:25609812)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Mitochondria shed their outer membrane in response to infection-induced stress., [RefSeq, PubMed]; TOMM70A is ubiquitously expressed in human tissues, maps on chromosome 3q13.1-q13.2 and consists of 12 coding exons spanning over 37 kb., [RefSeq, PubMed]; The Orf9b protein of SARS-CoV-2 modulates mitochondrial protein biogenesis., [RefSeq, PubMed]; This gene encodes an import receptor of the outer mitochondrial membrane that is part of the translocase of the outer membrane complex. This protein is involved in the import of mitochondrial precursor proteins. The protein interacts with the SARS-CoV and SARS-Cov-2 ORF9b proteins. [provided by RefSeq, Dec 2021]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "D3DN48", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0008320 protein transmembrane transporter activity;GO:0030943 mitochondrion targeting sequence binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0016020 membrane;GO:0031966 mitochondrial membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0061052 negative regulation of cell growth involved in cardiac muscle cell development;GO:0097068 response to thyroxine;GO:0045040 protein insertion into mitochondrial outer membrane;GO:0045039 protein insertion into mitochondrial inner membrane;GO:1903955 positive regulation of protein targeting to mitochondrion", "synthesized_glycan_count": 0, "hit_score": 29.9, "record_id": "O94826-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95807-1", "uniprot_id": [ { "id": "TM50A_HUMAN", "url": "https://www.uniprot.org/uniprot/O95807", "type": "external" } ], "mass": 17400.0, "length": 157, "protein_name": "Transmembrane protein 50A", "gene_name": "TMEM50A", "organism": "Human", "refseq_name": "transmembrane protein 50A", "refseq_ac": [ { "id": "NP_055128", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055128", "type": "external" } ], "gene_names_uniprotkb": "TMEM50A; PRO718; SMP1", "gene_names_refseq": "IFNRC; SMP1; TMEM50A", "protein_names_uniprotkb": "Transmembrane protein 50A; Small membrane protein 1", "protein_names_refseq": "cervical cancer oncogene 9; small membrane protein 1; transmembrane protein 50A", "tax_id": 9606, "disease": "", "pathway": " (hsa:23585)", "pathway_count": 1, "publication_count": 68, "publication_id_list": "11230166;12975309;16094384;22223895;23186163;24715725;25418920;25489052;25502872;25576301;26375851;26811146;26992070;27600516;27846572;27862975;27920218;28218747;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29437277;29557506;29769354;29786170;30315122;30410026;30484775;30626607;30779550;31092671;31154438;31217245;31530632;31611695;31844290;31937595;31998317;32157095;32161166;32350084;32357974;32897882;32938616;32983136;33141586;33392160;33691108;33717175;33912179;33968037;34171305;34357683;34932366;35051231;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36581221;37938771", "class_list": "", "function": "This gene is located in the RH gene locus, between the RHD and RHCE genes. The function of its protein product is unknown; however, its sequence has potential transmembrane domains suggesting that it may be an integral membrane protein. Its position between the RH genes suggests that polymorphisms in this gene may be tightly linked to RH haplotypes and may contribute to selective pressure for or against certain RH haplotypes. [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": 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_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0043025 neuronal cell body;GO:0097386 glial cell projection", "go_biological_process": "GO:0032511 late endosome to vacuole transport via multivesicular body sorting pathway", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "O95807-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P23510-1", "uniprot_id": [ { "id": "TNFL4_HUMAN", "url": "https://www.uniprot.org/uniprot/P23510", "type": "external" } ], "mass": 21050.0, "length": 183, "protein_name": "Tumor necrosis factor ligand superfamily member 4", "gene_name": "TNFSF4", "organism": "Human", "refseq_name": "tumor necrosis factor ligand superfamily member 4 isoform 2", "refseq_ac": [ { "id": "NP_001284491", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001284491", "type": "external" } ], "gene_names_uniprotkb": "TNFSF4; TXGP1", "gene_names_refseq": "CD134L; CD252; GP34; OX-40L; OX4OL; TNFSF4; TNLG2B; TXGP1", "protein_names_uniprotkb": "Tumor necrosis factor ligand superfamily member 4; Glycoprotein Gp34; OX40 ligand; OX40L; TAX transcriptionally-activated glycoprotein 1", "protein_names_refseq": "CD134 ligand; OX40 antigen ligand; glycoprotein Gp34; tax-transcriptionally activated glycoprotein 1 (34kD); tumor necrosis factor (ligand) superfamily member 4; tumor necrosis factor ligand 2B; tumor necrosis factor ligand superfamily member 4 isoform 2; tumor necrosis factor superfamily member 4", "tax_id": 9606, "disease": "primary pulmonary hypertension (Disease Ontology:DOID:14557); cervical squamous cell carcinoma (Disease Ontology:DOID:3744); myocardial infarction (Disease Ontology:DOID:5844); systemic lupus erythematosus (Disease Ontology:DOID:9074); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:7292); (R-HSA-5669034)", "pathway_count": 2, "publication_count": 50, "publication_id_list": "10074428;10359578;10398604;10484778;10597252;10615125;11197696;11237011;11571266;11882293;11911831;12189164;12949498;14656435;15356117;15470070;16501042;1655907;16905106;17632511;18059267;18571443;18606301;1996093;20032458;20222921;20307208;20510730;20979233;21300286;22197273;22664871;22801960;24070496;25502872;29493099;31844290;32350084;32502341;33141586;34357683;35154160;38142184;38607026;38982447;7913952;8076595;8120384;8871664;9878548", "class_list": "", "function": "An OX-Tra'Ordinary Tale: The Role of OX40 and OX40L in Atopic Dermatitis. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Association between OX40L polymorphism and type 2 diabetes mellitus in Iranians. Publication Status: Online-Only, [RefSeq, PubMed]; Cytokine that binds to TNFRSF4. Co-stimulates T-cell proliferation and cytokine production., [UniProtKB]; Differential expression of immune checkpoints (OX40/OX40L and PD-1/PD-L1) in decidua of unexplained recurrent spontaneous abortion women., [RefSeq, PubMed]; This gene encodes a cytokine of the tumor necrosis factor (TNF) ligand family. The encoded protein functions in T cell antigen-presenting cell (APC) interactions and mediates adhesion of activated T cells to endothelial cells. Polymorphisms in this gene have been associated with Sjogren's syndrome and systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]., [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": 15, "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": "Q5JZA5;Q8IV74;Q9HCN9", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005125 cytokine activity;GO:0032813 tumor necrosis factor receptor superfamily binding;GO:0005164 tumor necrosis factor receptor binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0032736 positive regulation of interleukin-13 production;GO:0032700 negative regulation of interleukin-17 production;GO:0045626 negative regulation of T-helper 1 cell differentiation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006954 inflammatory response", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "P23510-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P28289-1", "uniprot_id": [ { "id": "TMOD1_HUMAN", "url": "https://www.uniprot.org/uniprot/P28289", "type": "external" } ], "mass": 40569.0, "length": 359, "protein_name": "Tropomodulin-1", "gene_name": "TMOD1", "organism": "Human", "refseq_name": "tropomodulin-1", "refseq_ac": [ { "id": "NP_001159588", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159588", "type": "external" } ], "gene_names_uniprotkb": "TMOD1; D9S57E; TMOD", "gene_names_refseq": "D9S57E; ETMOD; TMOD1; TMOD", "protein_names_uniprotkb": "Tropomodulin-1; E-Tmod; Erythrocyte tropomodulin", "protein_names_refseq": "E-Tmod; e-tropomodulin; erythrocyte tropomodulin; tropomodulin-1", "tax_id": 9606, "disease": "dilated cardiomyopathy (Disease Ontology:DOID:12930)", "pathway": " (hsa:7111); (R-HSA-390522)", "pathway_count": 2, "publication_count": 57, "publication_id_list": "10747208;11054557;1370827;17081983;18452278;20068231;24714562;25250574;25418920;25469497;25576301;25880248;26154972;26375851;26728094;26811146;26929215;27600516;27846572;27920218;28063628;28228285;28514659;28832583;28855257;28904123;29242379;29393594;29508533;29557506;29632046;29786170;30379171;30429286;31217245;31844290;32037094;32265295;32357974;32387766;32502341;32937160;32938616;33141586;33298915;33717175;33912179;34357683;34561969;35051231;35580925;36284347;36316666;37938771;38168645;39276234;8002995", "class_list": "", "function": "Blocks the elongation and depolymerization of the actin filaments at the pointed end (PubMed:38168645). The Tmod/TM complex contributes to the formation of the short actin protofilament, which in turn defines the geometry of the membrane skeleton. May play an important role in regulating the organization of actin filaments by preferentially binding to a specific tropomyosin isoform at its N-terminus., [UniProtKB, PubMed, PubMed]; MicroRNA-885 regulates the growth and epithelial mesenchymal transition of human liver cancer cells by suppressing tropomodulin 1 expression., [RefSeq, PubMed]; Recessive TMOD1 mutation causes childhood cardiomyopathy. Publication Status: Online-Only, [RefSeq, PubMed]; Suggestive evidence of the genetic association of TMOD1 and PTCSC2 polymorphisms with thyroid carcinoma in the Chinese Han population. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the tropomodulin family. The encoded protein is an actin-capping protein that regulates tropomyosin by binding to its N-terminus, inhibiting depolymerization and elongation of the pointed end of actin filaments and thereby influencing the structure of the erythrocyte membrane skeleton. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2009]., [RefSeq]; Tropomodulin1 exacerbates inflammatory response in macrophages by negatively regulating LPS-induced TLR4 endocytosis. Publication Status: Online-Only, [RefSeq, PubMed]; Tropomodulins Control the Balance between Protrusive and Contractile Structures by Stabilizing Actin-Tropomyosin 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": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RB77;Q5T7W3;Q9BUF1", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0005523 tropomyosin binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005884 actin filament;GO:0016020 membrane;GO:0005865 striated muscle thin filament", "go_biological_process": "GO:0006936 muscle contraction;GO:0007015 actin filament organization;GO:0051694 pointed-end actin filament capping;GO:0070307 lens fiber cell development;GO:0030239 myofibril assembly", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "P28289-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P43489-1", "uniprot_id": [ { "id": "TNR4_HUMAN", "url": "https://www.uniprot.org/uniprot/P43489", "type": "external" } ], "mass": 29341.0, "length": 277, "protein_name": "Tumor necrosis factor receptor superfamily member 4", "gene_name": "TNFRSF4", "organism": "Human", "refseq_name": "tumor necrosis factor receptor superfamily member 4 isoform 1 precursor", "refseq_ac": [ { "id": "NP_003318", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003318", "type": "external" } ], "gene_names_uniprotkb": "TNFRSF4; TXGP1L", "gene_names_refseq": "ACT35; CD134; IMD16; OX40; TNFRSF4; TXGP1L", "protein_names_uniprotkb": "Tumor necrosis factor receptor superfamily member 4; ACT35 antigen; OX40L receptor; TAX transcriptionally-activated glycoprotein 1 receptor", "protein_names_refseq": "ACT35 antigen; ATC35 antigen; CD134 antigen; OX40 antigen; OX40 cell surface antigen; OX40 homologue; OX40L receptor; TAX transcriptionally-activated glycoprotein 1 receptor; lymphoid activation antigene ACT35; tax-transcriptionally activated glycoprotein 1 receptor; tumor necrosis factor receptor superfamily member 4 isoform 1 precursor; tumor necrosis factor receptor superfamily member 4", "tax_id": 9606, "disease": "immunodeficiency 16 (Disease Ontology:DOID:0111935); cervical squamous cell carcinoma (Disease Ontology:DOID:3744)", "pathway": " (hsa:7293); (R-HSA-5669034)", "pathway_count": 2, "publication_count": 56, "publication_id_list": "10074428;10359578;10398604;10484778;10597252;10615125;10861060;11237011;11571266;11882293;11911831;12189164;12949498;14656435;15356117;15470070;16501042;1655907;16905106;17632511;18571443;18606301;20032458;20222921;20307208;20510730;20979233;21300286;22197273;22664871;22801960;23674671;23897980;24070496;28446606;29242379;29351928;29786170;30429286;31154438;32983136;35051231;36284347;36591653;37742913;37932534;38142184;38607026;7510240;7704935;7913952;8120384;8871664;9418902;9488716;9878548", "class_list": "", "function": "(Microbial infection) Acts as a receptor for human herpesvirus 6B/HHV-6B., [UniProtKB, PubMed]; An OX-Tra'Ordinary Tale: The Role of OX40 and OX40L in Atopic Dermatitis. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Differential expression of immune checkpoints (OX40/OX40L and PD-1/PD-L1) in decidua of unexplained recurrent spontaneous abortion women., [RefSeq, PubMed]; Elevated expression of TNFRSF4 impacts immune cell infiltration and gene mutation in hepatocellular carcinoma., [RefSeq, PubMed]; Receptor for TNFSF4/OX40L/GP34. Is a costimulatory molecule implicated in long-term T-cell immunity., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Sclerotic-Type Cutaneous Chronic Graft-Versus-Host Disease Exhibits Activation of T Helper 1 and OX40 Cytokines., [RefSeq, PubMed]; The OX40-TRAF6 axis promotes CTLA-4 degradation to augment antitumor CD8[+] T-cell immunity., [RefSeq, PubMed]; The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor has been shown to activate NF-kappaB through its interaction with adaptor proteins TRAF2 and TRAF5. Knockout studies in mice suggested that this receptor promotes the expression of apoptosis inhibitors BCL2 and BCL2lL1/BCL2-XL, and thus suppresses apoptosis. The knockout studies also suggested the roles of this receptor in CD4+ T cell response, as well as in T cell-dependent B cell proliferation and differentiation. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q13663;Q2M312;Q5T7M0", "ec_number_list": [], "go_molecular_function": "GO:0001618 virus receptor activity;GO:0005031 tumor necrosis factor receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0009897 external side of plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006954 inflammatory response;GO:0006955 immune response;GO:0030890 positive regulation of B cell proliferation;GO:0042098 T cell proliferation", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "P43489-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P48788-1", "uniprot_id": [ { "id": "TNNI2_HUMAN", "url": "https://www.uniprot.org/uniprot/P48788", "type": "external" } ], "mass": 21339.0, "length": 182, "protein_name": "Troponin I, fast skeletal muscle", "gene_name": "TNNI2", "organism": "Human", "refseq_name": "troponin I, fast skeletal muscle isoform 1", "refseq_ac": [ { "id": "NP_001139301", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139301", "type": "external" } ], "gene_names_uniprotkb": "TNNI2", "gene_names_refseq": "AMCD2B; DA2B1; DA2B; FSSV; TNNI2; fsTnI", "protein_names_uniprotkb": "Troponin I, fast skeletal muscle; Troponin I, fast-twitch isoform", "protein_names_refseq": "troponin I fast twitch 2; troponin I type 2 (skeletal, fast); troponin I, fast skeletal muscle isoform 1; troponin I, skeletal, fast", "tax_id": 9606, "disease": "distal arthrogryposis (Disease Ontology:DOID:0050646); cardiomyopathy (Disease Ontology:DOID:0050700); arthrogryposis multiplex congenita (Disease Ontology:DOID:0080954); distal arthrogryposis type 2B1 (Disease Ontology:DOID:0111600); heart disease (Disease Ontology:DOID:114); dilated cardiomyopathy (Disease Ontology:DOID:12930); adenocarcinoma (Disease Ontology:DOID:299)", "pathway": " (hsa:7136); (R-HSA-390522)", "pathway_count": 2, "publication_count": 13, "publication_id_list": "10721725;10747208;12592607;28832583;29557506;31844290;33141586;33683712;35051231;36069346;36631501;4369265;8148383", "class_list": "", "function": "A TNNI2 variant c.525G>T causes distal arthrogryposis in a Chinese family., [RefSeq, PubMed]; Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism., [RefSeq, PubMed]; Elevation of fast but not slow troponin I in the circulation of patients with Becker and Duchenne muscular dystrophy., [RefSeq, PubMed]; This gene encodes a fast-twitch skeletal muscle protein, a member of the troponin I gene family, and a component of the troponin complex including troponin T, troponin C and troponin I subunits. The troponin complex, along with tropomyosin, is responsible for the calcium-dependent regulation of striated muscle contraction. Mouse studies show that this component is also present in vascular smooth muscle and may play a role in regulation of smooth muscle function. In addition to muscle tissues, this protein is found in corneal epithelium, cartilage where it is an inhibitor of angiogenesis to inhibit tumor growth and metastasis, and mammary gland where it functions as a co-activator of estrogen receptor-related receptor alpha. This protein also suppresses tumor growth in human ovarian carcinoma. Mutations in this gene cause myopathy and distal arthrogryposis type 2B. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]., [RefSeq]; Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity., [UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "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": "A6NIV8;A6NJU5", "ec_number_list": [], "go_molecular_function": "GO:0031014 troponin T binding;GO:0003779 actin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005861 troponin complex", "go_biological_process": "GO:0003009 skeletal muscle contraction;GO:0045893 positive regulation of DNA-templated transcription;GO:0060048 cardiac muscle contraction", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "P48788-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62072-1", "uniprot_id": [ { "id": "TIM10_HUMAN", "url": "https://www.uniprot.org/uniprot/P62072", "type": "external" } ], "mass": 10333.0, "length": 90, "protein_name": "Mitochondrial import inner membrane translocase subunit Tim10", "gene_name": "TIMM10", "organism": "Human", "refseq_name": "mitochondrial import inner membrane translocase subunit Tim10", "refseq_ac": [ { "id": "NP_036588", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036588", "type": "external" } ], "gene_names_uniprotkb": "TIMM10; TIM10", "gene_names_refseq": "TIM10A; TIM10; TIMM10A; TIMM10", "protein_names_uniprotkb": "Mitochondrial import inner membrane translocase subunit Tim10", "protein_names_refseq": "mitochondrial import inner membrane translocase subunit Tim10; translocase of inner mitochondrial membrane 10 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:26519); (R-HSA-1268020); (R-HSA-9837999)", "pathway_count": 3, "publication_count": 87, "publication_id_list": "10552927;10611480;11489896;11923310;12198491;14623864;14726512;15254020;15522782;15644312;15683237;15870080;16115876;16185709;16387659;16849325;17101804;17297443;17510655;17579211;18174896;18678864;19409522;19453276;19767391;19841671;19962426;20593814;21750375;22262461;22710082;23041349;23201127;23597483;23811401;23931759;24315374;24520911;24715725;25315652;25576301;26504172;26697887;26923599;27496948;27642048;27846572;28377575;28396416;28510447;28832583;29242379;29301859;29557506;29786170;29932645;30120231;30192525;30379171;30779550;31327635;31530632;31695197;31844290;31848261;32157095;32357974;32488085;33141586;33257573;33592498;33691108;33912179;33936100;34704252;34943861;35254053;35318648;35526384;35580925;35870450;36010968;36284347;36629048;37938771;40307207;7623837", "class_list": "", "function": "Mitochondrial intermembrane chaperone that participates in the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. May also be required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space., [UniProtKB, PubMed]; The mitochondrial protein encoded by this gene belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane, functioning as intermembrane space chaperones for the highly insoluble carrier proteins. [provided by RefSeq, Nov 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A8K136;Q9WV99;Q9WVA0;Q9Y5J8", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042803 protein homodimerization activity;GO:0051087 protein-folding chaperone binding;GO:0032977 membrane insertase activity", "go_cellular_component": "GO:0042719 mitochondrial intermembrane space chaperone complex;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005758 mitochondrial intermembrane space;GO:0042721 TIM22 mitochondrial import inner membrane insertion complex", "go_biological_process": "GO:0015031 protein transport;GO:0045039 protein insertion into mitochondrial inner membrane;GO:0006626 protein targeting to mitochondrion;GO:0007605 sensory perception of sound", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "P62072-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JU69-1", "uniprot_id": [ { "id": "TOR2A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JU69", "type": "external" } ], "mass": 35714.0, "length": 321, "protein_name": "Torsin-2A", "gene_name": "TOR2A", "organism": "Human", "refseq_name": "prosalusin isoform c precursor", "refseq_ac": [ { "id": "NP_001127902", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127902", "type": "external" } ], "gene_names_uniprotkb": "TOR2A; HEMBA1005096; PRO21181; PSEC0218; TORP1", "gene_names_refseq": "TOR2A; TORP1", "protein_names_uniprotkb": "Torsin-2A; Torsin family 2 member A; Torsin-related protein 1", "protein_names_refseq": "prosalusin isoform c precursor; prosalusin; salusin-beta; torsin-2A; torsin-related protein 1", "tax_id": 9606, "disease": "torsion dystonia 1 (Disease Ontology:DOID:0060730); Parkinson's disease (Disease Ontology:DOID:14330); dystonia (Disease Ontology:DOID:543)", "pathway": " (hsa:27433)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "10.1101/2023.09.13.557529;12910263;12975309;16303743;16697365;23481700;24190977;24881665;28228285;29242379;29557506;29741879;31844290;32157095;32350084;33717175;33968037;34357683;35051231;35154160;35580925;36581221;37074911;37386856;38063230;38076033;38963051", "class_list": "", "function": "Human salusin beta is a surrogate ligand of mouse MrgA1., [RefSeq, PubMed]; Overexpression of salusin-beta downregulates adipoR1 expression to prevent fatty acid oxidation in HepG2 cells., [RefSeq, PubMed]; Salusin-alpha alleviates lipid metabolism disorders via regulation of the downstream lipogenesis genes through the LKB1/AMPK pathway., [RefSeq, PubMed]; Salusin-beta is an antimicrobial peptide with potent antibacterial activity against Gram-positive microorganisms., [RefSeq, PubMed]; Salusins -alpha and -beta may be endocrine and/or paracrine factors able to increase intracellular calcium concentrations and induce cell mitogenesis. Salusins may also be potent hypotensive peptides., [UniProtKB, PubMed]; TOR2A Variants in Blepharospasm. Publication Status: Online-Only, [RefSeq, PubMed]; The identification and characterization of two related peptides of 28 and 20 amino acids, which we designated salusin-alpha and salusin-beta. Salusins are translated from an alternatively spliced mRNA of TOR2A, [RefSeq, PubMed]; This gene encodes a member of the AAA family of adenosine triphosphatases with similarity to Clp proteases and heat shock proteins. Alternative splicing at this locus results in the translation of multiple isoforms of the encoded protein, some of which contain salusin peptides in the C-terminal region. These peptides may play roles in hypotension, myocardial growth and the induction of mitogenesis, and may also be involved in the pathogenesis of atherosclerosis. The antimicrobial peptide salusin-beta has antibacterial activity. [provided by RefSeq, Nov 2014]., [RefSeq]; Use of salusin beta for predicting atherosclerosis and components of the metabolic syndrome. 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": 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": 5, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A4FU12;A4FU13;Q3ZCN9;Q3ZCP0;Q5JU68;Q66K87;Q6UXW6;Q8NAN5;Q96SL7", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0016887 ATP hydrolysis activity;GO:0005179 hormone activity", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005788 endoplasmic reticulum lumen;GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q5JU69-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5SWH9-1", "uniprot_id": [ { "id": "TMM69_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5SWH9", "type": "external" } ], "mass": 27551.0, "length": 247, "protein_name": "Transmembrane protein 69", "gene_name": "TMEM69", "organism": "Human", "refseq_name": "transmembrane protein 69", "refseq_ac": [ { "id": "NP_057570", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057570", "type": "external" } ], "gene_names_uniprotkb": "TMEM69; C1orf154; HSPC229", "gene_names_refseq": "C1orf154; TMEM69", "protein_names_uniprotkb": "Transmembrane protein 69", "protein_names_refseq": "transmembrane protein 69", "tax_id": 9606, "disease": "", "pathway": " (hsa:51249)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "24715725;25576301;26154972;26992070;27846572;28063628;28904123;29393594;29437277;29557506;29632046;30410026;31217245;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32938616;33123756;33141586;33298915;33392160;33691108;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34405274;34509645;34932366;35051231;35580925;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": 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": "Q3SWW5;Q7Z2G0;Q9P0P9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q5SWH9-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q69YG0-1", "uniprot_id": [ { "id": "TMM42_HUMAN", "url": "https://www.uniprot.org/uniprot/Q69YG0", "type": "external" } ], "mass": 16991.0, "length": 159, "protein_name": "Transmembrane protein 42", "gene_name": "TMEM42", "organism": "Human", "refseq_name": "transmembrane protein 42", "refseq_ac": [ { "id": "NP_653239", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_653239", "type": "external" } ], "gene_names_uniprotkb": "TMEM42", "gene_names_refseq": "TMEM42", "protein_names_uniprotkb": "Transmembrane protein 42", "protein_names_refseq": "transmembrane protein 42", "tax_id": 9606, "disease": "", "pathway": " (hsa:131616)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "27862975;28228285;29769354;31154438;31844290", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q8WUQ6", "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": "Q69YG0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UXZ0-1", "uniprot_id": [ { "id": "TMIG1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UXZ0", "type": "external" } ], "mass": 29185.0, "length": 262, "protein_name": "Transmembrane and immunoglobulin domain-containing protein 1", "gene_name": "TMIGD1", "organism": "Human", "refseq_name": "transmembrane and immunoglobulin domain-containing protein 1 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001306871", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306871", "type": "external" } ], "gene_names_uniprotkb": "TMIGD1; PRO34164; TMIGD", "gene_names_refseq": "TMIGD1; TMIGD; UNQ9372", "protein_names_uniprotkb": "Transmembrane and immunoglobulin domain-containing protein 1", "protein_names_refseq": "AWKS9372; transmembrane and immunoglobulin domain-containing protein 1 isoform 2 precursor; transmembrane and immunoglobulin domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:388364)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "12975309;22299025;24715725;26342724;29557506;29789417;32303178;32508154;33129760;33392160;35481970;37074911", "class_list": "", "function": "Identified TMIGD1 as a novel cell adhesion molecule expressed in kidney epithelial cells that protects kidney epithelial cells from oxidative cell injury to promote cell survival, [RefSeq, PubMed]; May control cell-cell adhesion, cell migration and proliferation, cell morphology, and protects renal epithelial cells from oxidative cell injury to promote cell survival., [UniProtKB, PubMed]; The Role of TMIGD1 as a Tumor Suppressor in Colorectal Cancer., [RefSeq, PubMed]; The mitochondrial outer membrane protein SYNJ2BP interacts with the cell adhesion molecule TMIGD1 and can recruit it to mitochondria. Publication Status: Online-Only, [RefSeq, PubMed]; Transcriptomic identification of TMIGD1 and its relationship with the ileal epithelial cell differentiation in Crohn's disease., [RefSeq, PubMed]; Transmembrane and Immunoglobulin Domain Containing 1, a Putative Tumor Suppressor, Induces G2/M Cell Cycle Checkpoint Arrest in Colon Cancer Cells., [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 9718, "biomarker_type": "", "glycan_count": 6, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A8K2K1;Q6ZMC6", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0098631 cell adhesion mediator activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005912 adherens junction;GO:0009986 cell surface;GO:0043005 neuron projection", "go_biological_process": "GO:0090559 regulation of membrane permeability;GO:0042127 regulation of cell population proliferation;GO:0043066 negative regulation of apoptotic process;GO:0050680 negative regulation of epithelial cell proliferation;GO:0098609 cell-cell adhesion", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q6UXZ0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IU68-1", "uniprot_id": [ { "id": "TMC8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IU68", "type": "external" } ], "mass": 81641.0, "length": 726, "protein_name": "Transmembrane channel-like protein 8", "gene_name": "TMC8", "organism": "Human", "refseq_name": "transmembrane channel-like protein 8", "refseq_ac": [ { "id": "NP_689681", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689681", "type": "external" } ], "gene_names_uniprotkb": "TMC8; EVER2; EVIN2", "gene_names_refseq": "EV2; EVER2; EVIN2; TMC8", "protein_names_uniprotkb": "Transmembrane channel-like protein 8; Epidermodysplasia verruciformis protein 2", "protein_names_refseq": "epidermodysplasia verruciformis 2; epidermodysplasia verruciformis protein 2; transmembrane channel-like protein 8", "tax_id": 9606, "disease": "epidermodysplasia verruciformis (Disease Ontology:DOID:13777); epidermodysplasia verruciformis, susceptibility to, 2 (MONDO:MONDO:0032614)", "pathway": " (hsa:147138)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "12426567;12906855;17081983;18158319;20058876;23186163;23429285;23481700;24715725;25220380;25418920;25576301;25892735;26154972;26992070;27846572;28646613;28832583;28904123;29437277;29493099;29557506;30068544;30410026;31217245;31844290;32350084;32387766;32502341;32917726;33123756;33141586;33298915;33912179;33936100;34357683;34459021;34932366;35051231;35580925;36170758", "class_list": "", "function": "Acts as a regulatory protein involved in the regulation of numerous cellular processes (PubMed:18158319, PubMed:23429285, PubMed:30068544, PubMed:32917726). Together with its homolog TMC6/EVER1, forms a complex with calcium-binding protein CIB1 in lymphocytes and keratynocytes where TMC6 and TMC8 stabilize CIB1 levels and reciprocally (PubMed:30068544, PubMed:32917726). Together with TMC6, also forms a complex with and activates zinc transporter ZNT1 at the ER membrane of keratynocytes, thereby facilitating zinc uptake into the ER (PubMed:18158319). Also inhibits receptor-mediated calcium release from ER stores and calcium activated and volume regulated chloride channels (PubMed:25220380). Down-regulates the activity of transcription factors induced by zinc and cytokines (PubMed:18158319). Also sequesters TRADD which impairs the recruitment of TRAF2 and RIPK1 in the pro-survival complex I and promotes proapoptotic complex II formation, and may therefore be involved in TNF-induced cell death/survival decisions (PubMed:23429285)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Case of epidermodysplasia verruciformis with a novel mutation of TMC8., [RefSeq, PubMed]; Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 8 predicted transmembrane domains and 3 leucine zipper motifs. [provided by RefSeq, Jul 2008]., [RefSeq]; Establishment of a human induced pluripotent stem cell line, KMUGMCi005-A, from a patient with Epidermodysplasia verruciformis (EV) bearing homozygous splicing donor site mutation in the TMC8 gene., [RefSeq, PubMed]; Expression of a TMC6-TMC8-CIB1 heterotrimeric complex in lymphocytes is regulated by each of the components., [RefSeq, PubMed]; Mutations in EVER2 are associated with epidermodysplasia verruciformis., [RefSeq, PubMed]; The relatively high proportion of EV patients without mutation in TMC6/8 indicates the existence of EV-causing mutations in additional, presently unknown gene(s). However, a homozygous TMC8 splice site mutation in our patients resulted in aberrant transcripts which cannot retain the healthy phenotype, [RefSeq, PubMed]; These findings suggest that the disruption of CIB1-EVER1-EVER2-dependent keratinocyte-intrinsic immunity underlies the selective susceptibility to beta-HPVs of epidermodysplasia verruciformis patients., [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": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "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": "Q2YDC0;Q8IWU7;Q8N358;Q8NF04", "ec_number_list": [], "go_molecular_function": "GO:0043120 tumor necrosis factor binding;GO:0008381 mechanosensitive monoatomic ion channel activity;GO:0140311 protein sequestering activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0043065 positive regulation of apoptotic process;GO:0032091 negative regulation of protein binding;GO:0050821 protein stabilization;GO:0043124 negative regulation of canonical NF-kappaB signal transduction;GO:0031333 negative regulation of protein-containing complex assembly", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q8IU68-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IUR5-5", "uniprot_id": [ { "id": "TMTC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IUR5", "type": "external" } ], "mass": 98847.0, "length": 882, "protein_name": "Protein O-mannosyl-transferase TMTC1", "gene_name": "TMTC1", "organism": "Human", "refseq_name": "protein O-mannosyl-transferase TMTC1 isoform 1", "refseq_ac": [ { "id": "NP_001180380", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180380", "type": "external" } ], "gene_names_uniprotkb": "TMTC1; ARG99", "gene_names_refseq": "ARG99; OLF; TMTC1A; TMTC1", "protein_names_uniprotkb": "Protein O-mannosyl-transferase TMTC1; 2.4.1.109; Transmembrane O-mannosyltransferase targeting cadherins 1; Transmembrane and tetratricopeptide repeat-containing 1", "protein_names_refseq": "protein O-mannosyl-transferase TMTC1 isoform 1; protein O-mannosyl-transferase TMTC1; transmembrane and tetratricopeptide repeat containing 1A", "tax_id": 9606, "disease": "", "pathway": " (hsa:83857)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "22771904;24764305;25645385;25892735;26154972;27600516;28973932;29393594;29557506;31844290;32157095;33141586;33392160;33436046;34171305;35051231;36284347;37221403;38232443;38253038", "class_list": "", "function": "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]; Findings provide an important link between aneuploidy and the stress pathways activated by Aurora B inhibition and also support the use of Aurora B inhibitors in combination therapy for treatment of cancer., [RefSeq, PubMed]; Hypomethylation and high expression of the TMTC1 gene in patients with schizophrenia., [RefSeq, PubMed]; O-mannosylation pathway dedicated to cadherins/ protocadherins orchestrated by the four TMTC1-4 genes, [RefSeq, PubMed]; TMTC1 promotes invasiveness of ovarian cancer cells through integrins beta1 and beta4., [RefSeq, PubMed]; 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., [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 34, "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": "D0EP37;F5H8B5;Q6PIU4;Q6ZSM5;Q96N52;Q9BXM2", "ec_number_list": [ { "id": "2.4.1.109", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.109", "type": "external" } ], "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:0006396 RNA processing;GO:0035269 protein O-linked glycosylation via mannose", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q8IUR5-5", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N9X5-1", "uniprot_id": [ { "id": "TMM75_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N9X5", "type": "external" } ], "mass": 15361.0, "length": 138, "protein_name": "Putative protein encoded by LINC02912", "gene_name": "LINC02912", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC02912; TMEM75", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative protein encoded by LINC02912", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "29964097", "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": "B2RPD6;B9EH93", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q8N9X5-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TDI8-1", "uniprot_id": [ { "id": "TMC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TDI8", "type": "external" } ], "mass": 87768.0, "length": 760, "protein_name": "Transmembrane channel-like protein 1", "gene_name": "TMC1", "organism": "Human", "refseq_name": "transmembrane channel-like protein 1", "refseq_ac": [ { "id": "NP_619636", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619636", "type": "external" } ], "gene_names_uniprotkb": "TMC1", "gene_names_refseq": "DFNA36; DFNB11; DFNB7; TMC1", "protein_names_uniprotkb": "Transmembrane channel-like protein 1; Transmembrane cochlear-expressed protein 1", "protein_names_refseq": "transmembrane channel-like protein 1; transmembrane cochlear-expressed protein 1; transmembrane, cochlear expressed, 1", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness 7 (Disease Ontology:DOID:0110520); autosomal dominant nonsyndromic deafness 36 (Disease Ontology:DOID:0110563); sensorineural hearing loss (Disease Ontology:DOID:10003)", "pathway": " (hsa:117531); (R-HSA-9662360); (R-HSA-9662361)", "pathway_count": 3, "publication_count": 17, "publication_id_list": "10025409;10821263;11163272;11237011;11850618;15605408;25388789;30138589;32350084;32938616;34089643;34523024;35089886;35251023;36542715;38066485;39097884", "class_list": "", "function": "A novel splicing variant in the TMC1 gene causes non-syndromic hearing loss in a Chinese family. Publication Status: Online-Only, [RefSeq, PubMed]; GABA signaling triggered by TMC-1/Tmc delays neuronal aging by inhibiting the PKC pathway in C. elegans., [RefSeq, PubMed]; Heterozygous variants in transmembrane channel-like 1 gene cause autosomal recessive nonsyndromic hearing loss. Publication Status: Online-Only, [RefSeq, PubMed]; Novel autosomal dominant TMC1 variants linked to hearing loss: insight into protein-lipid interactions. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Pore-forming subunit of the mechanotransducer (MET) non-selective cation channel complex located at the tips of stereocilia of cochlear hair cells and that mediates sensory transduction in the auditory system (By similarity). The MET complex is composed of two dimeric pore-forming ion-conducting transmembrane TMC (TMC1 or TMC2) subunits, and aided by several auxiliary proteins including LHFPL5, TMIE, CIB2/3 and TOMT, and the tip-link PCDH15 (By similarity). MET channel is activated by tension in the tip-link extending from the side wall of one stereocilium to the tip of the adjacent shorter stereocilium, where the channel is located (By similarity). TMC1 MET channel is highly permeable to calcium and likely transports monovalent cations (By similarity). Also involved in vestibular hair cells transduction current (By similarity)., [UniProtKB, UniProtKB]; Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss., [RefSeq, PubMed]; Role of mutations causing dominant and recessive deafness, [RefSeq, PubMed]; This gene is considered a member of a gene family predicted to encode transmembrane proteins. The specific function of this gene is unknown; however, it is known to be required for normal function of cochlear hair cells. Mutations in this gene have been associated with progressive postlingual hearing loss and profound prelingual deafness. [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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8MVZ2;B1AM91", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0005262 calcium channel activity;GO:0008381 mechanosensitive monoatomic ion channel activity;GO:0005245 voltage-gated calcium channel activity", "go_cellular_component": "GO:0009897 external side of plasma membrane;GO:0032426 stereocilium tip;GO:0032420 stereocilium;GO:0005886 plasma membrane", "go_biological_process": "GO:0060005 vestibular reflex;GO:0050910 detection of mechanical stimulus involved in sensory perception of sound", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q8TDI8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HAV5-1", "uniprot_id": [ { "id": "TNR27_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HAV5", "type": "external" } ], "mass": 32759.0, "length": 297, "protein_name": "Tumor necrosis factor receptor superfamily member 27", "gene_name": "EDA2R", "organism": "Human", "refseq_name": "tumor necrosis factor receptor superfamily member 27 isoform 2", "refseq_ac": [ { "id": "NP_001229239", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229239", "type": "external" } ], "gene_names_uniprotkb": "EDA2R; PRO34080; TNFRSF27; XEDAR", "gene_names_refseq": "EDA-A2R; EDA2R; EDAA2R; TNFRSF27; XEDAR", "protein_names_uniprotkb": "Tumor necrosis factor receptor superfamily member 27; EDA-A2 receptor; X-linked ectodysplasin-A2 receptor", "protein_names_refseq": "EDA-A2 receptor; X-linked EDA receptor; X-linked ectodysplasin-A2 receptor; tumor necrosis factor receptor superfamily member 27 isoform 2; tumor necrosis factor receptor superfamily member 27; tumor necrosis factor receptor superfamily member XEDAR", "tax_id": 9606, "disease": "", "pathway": " (hsa:60401); (R-HSA-5669034)", "pathway_count": 2, "publication_count": 52, "publication_id_list": "10.1101/2023.09.13.557529;10074428;10359578;10398604;10484778;10597252;10615125;11039935;11571266;11882293;11911831;12189164;12270937;12949498;12975309;14656435;15280356;15356117;15470070;16423472;16501042;1655907;17632511;18571443;18606301;20032458;20222921;20307208;20510730;20979233;21300286;22197273;22664871;22801960;23090970;24070496;24190977;28228285;29242379;30429286;31844290;32157095;32938616;35051231;37165186;37807033;38927638;39988718;7913952;8120384;8871664;9878548", "class_list": "", "function": "EDA2R-NIK signalling promotes muscle atrophy linked to cancer cachexia., [RefSeq, PubMed]; Ectodysplasin A2 receptor-NF-kappaB-inducing kinase axis: a new player in muscle wasting to cancer cachexia. Publication Status: Online-Only, [RefSeq, 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]; Isoforms of EDA-A5 and A5',activated NF-kappaB through receptors EDAR and XEDAR, [RefSeq, PubMed]; Receptor for EDA isoform A2, but not for EDA isoform A1. Mediates the activation of the NF-kappa-B and JNK pathways. Activation seems to be mediated by binding to TRAF3 and TRAF6., [UniProtKB, PubMed]; Results establish a major role of TRAF3 and -6 in X-linked ectodermal dysplasia receptor (XEDAR) signaling and in the process of ectodermal differentiation., [RefSeq, PubMed]; The protein encoded by this gene is a type III transmembrane protein of the TNFR (tumor necrosis factor receptor) superfamily, and contains cysteine-rich repeats and a single transmembrane domain. This protein binds to the EDA-A2 isoform of ectodysplasin, which plays an important role in maintenance of hair and teeth. Alternatively spliced transcript variants encodes distinct protein isoforms. [provided by RefSeq, Apr 2016]., [RefSeq]; This study indicates that ectodysplasin A2 receptor may be a biomarker for aging, especially in the context of skeletal muscle, and targeting it could be a potential strategy to mitigate aging-related phenotypes. Publication Status: Online-Only, [RefSeq, PubMed]; XEDAR belongs to a novel class of death receptors that lack a discernible death domain but are capable of activating apoptosis in a caspase 8- and FADD-dependent fashion, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 1, "reported_glycation": 0, "reported_snv": 11, "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": "Q5VYX9;Q5VYY0;Q6UWM2;Q8IZA6", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0005031 tumor necrosis factor receptor activity;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0046330 positive regulation of JNK cascade;GO:0008544 epidermis development;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0019221 cytokine-mediated signaling pathway;GO:0010668 ectodermal cell differentiation", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q9HAV5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HBJ8-1", "uniprot_id": [ { "id": "CLTRN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HBJ8", "type": "external" } ], "mass": 25235.0, "length": 222, "protein_name": "Collectrin", "gene_name": "CLTRN", "organism": "Human", "refseq_name": "collectrin precursor", "refseq_ac": [ { "id": "NP_065716", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065716", "type": "external" } ], "gene_names_uniprotkb": "CLTRN; PRO1312; TMEM27", "gene_names_refseq": "CLTRN; NX-17; NX17; TMEM27", "protein_names_uniprotkb": "Collectrin; Transmembrane protein 27", "protein_names_refseq": "collectrin precursor; collectrin; kidney-specific membrane protein; transmembrane protein 27", "tax_id": 9606, "disease": "", "pathway": " (hsa:57393); (R-HSA-264876)", "pathway_count": 2, "publication_count": 49, "publication_id_list": "10.1101/2023.09.13.557529;10521251;11237011;11278314;11462236;11493706;11707400;11904301;12975309;14617756;14704853;1528899;15331542;15878854;16158220;16158222;16330323;16407158;16714477;16984975;17693757;20308425;21091435;21145486;21308844;21713314;21907142;22628310;25091901;2669954;27417314;2822027;28764560;31184304;31520464;31844290;32350084;32723473;33485965;35251023;36264884;36369873;37074911;3896518;7626024;8916141;9166668;9207799;9631292", "class_list": "", "function": "Collectrin (Tmem27) deficiency in proximal tubules causes hypertension in mice and a TMEM27 variant associates with blood pressure in males in a Latino cohort., [RefSeq, PubMed]; Collectrin has a role in amino acid transpor in the kidney [review] Review article, [RefSeq, PubMed]; Lack of expression of the TMEM27 in conventional renal cell carcinoma defines a group of patients at high risk for cancer-related death., [RefSeq, PubMed]; Maternal serum collectrin levels are significantly lower in patients with preeclampsia than in the control group. There is an inverse correlation between serum collectrin levels and blood pressure., [RefSeq, PubMed]; Plays an important role in amino acid transport by acting as binding partner of amino acid transporters SLC6A18 and SLC6A19, regulating their trafficking on the cell surface and their amino acid transporter activity (By similarity). May also play a role in trafficking of amino acid transporters SLC3A1 and SLC7A9 to the renal cortical cell membrane (By similarity). Regulator of SNARE complex function (PubMed:16330323). Stimulator of beta cell replication (PubMed:16330323)., [UniProtKB, UniProtKB, PubMed]; TMEM27 expression and clinical characteristics and survival in clear cell renal cell carcinoma., [RefSeq, PubMed]; This gene encodes a type 1 transmembrane protein that is important for trafficking amino acid transporters to the apical brush border of proximal tubules. The encoded protein binds to amino acid transporters and regulates their expression on the plasma membrane. It also plays a role in controlling insulin exocytosis by regulating formation of the SNARE (soluble N-ethylmaleimide-sensitive-factor attachment protein receptor) complex in pancreatic beta cells. The extracellular domain of the encoded protein may be cleaved and shed from the plasma membrane specifically in pancreatic beta cells. [provided by RefSeq, Jun 2013]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 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": 9, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 9507, "biomarker_type": "", "glycan_count": 11, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2R9M1;Q6UW07", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0141109 transporter activator activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0031526 brush border membrane", "go_biological_process": "GO:0017156 calcium-ion regulated exocytosis;GO:0035493 SNARE complex assembly;GO:0035773 insulin secretion involved in cellular response to glucose stimulus;GO:0051957 positive regulation of amino acid transport;GO:0089718 amino acid import across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q9HBJ8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NS56-1", "uniprot_id": [ { "id": "TOPRS_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NS56", "type": "external" } ], "mass": 119198.0, "length": 1045, "protein_name": "E3 ubiquitin-protein ligase Topors", "gene_name": "TOPORS", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase Topors isoform 2", "refseq_ac": [ { "id": "NP_001182551", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182551", "type": "external" } ], "gene_names_uniprotkb": "TOPORS; LUN; TP53BPL", "gene_names_refseq": "LUN; P53BP3; RP31; TOPORS; TP53BPL", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase Topors; 2.3.2.27; RING-type E3 ubiquitin transferase Topors; SUMO1-protein E3 ligase Topors; Topoisomerase I-binding RING finger protein; Topoisomerase I-binding arginine/serine-rich protein; Tumor suppressor p53-binding protein 3; p53-binding protein 3; p53BP3", "protein_names_refseq": "E3 ubiquitin-protein ligase Topors isoform 2; RING-type E3 ubiquitin transferase Topors; SUMO1-protein E3 ligase Topors; topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase; topoisomerase I-binding RING finger protein; tumor suppressor p53-binding protein 3", "tax_id": 9606, "disease": "retinitis pigmentosa 31 (Disease Ontology:DOID:0110391)", "pathway": " (hsa:10210); (R-HSA-3899300); (R-HSA-4085377); (R-HSA-4755510)", "pathway_count": 4, "publication_count": 151, "publication_id_list": "10352183;10415337;11124955;11278651;11477070;11792325;11842083;11842245;12083797;12150977;12529333;12679040;12718889;14516784;14651848;15107820;15247280;15302935;15364129;15378033;15735665;15766567;15831457;15958389;15976810;16098147;16122737;16194093;16757475;16906147;17079232;17081983;17081986;17298944;17369852;17535915;17803295;17924349;17942393;18077445;18082607;18211901;18339323;18452278;18488044;18617892;18669648;18691969;18691976;19007248;19053840;19240082;19297320;19413330;19473992;19596686;19615980;19664994;19664995;19690332;19821153;19995069;20068231;20098713;20112406;20176810;20188669;20676127;21338522;21406692;21527249;22467880;22649547;22713328;23186163;23404503;23481700;23673342;24275569;24714562;24715725;25074923;25114211;25218447;25418920;25576301;25645385;25755297;25772364;25800734;25892735;26154972;26375851;26728094;26811146;26872363;26992070;27397612;27600516;27846572;27862975;27869121;27920218;28411811;28453362;28514659;28832583;28834231;28904123;29070839;29242379;29331515;29393594;29493099;29557506;29632046;29786170;30379171;30429286;30833945;31154438;31530632;31844290;31848261;32157095;32161166;32265295;32387766;32488085;32938616;32983136;33298915;33592498;33691108;33717175;33912179;33968037;34171305;34185709;34211107;34932366;35051231;35254173;35318648;35579903;35580925;36010968;36284347;36581221;37938771;9734360", "class_list": "", "function": "A novel mutation of the TOPORS gene was identified, c.2539C>T p.(Arg847Ter), resulting in a premature termination codon and suggesting haploinsufficiency as the pathological mechanism., [RefSeq, PubMed]; Autosomal Dominant Retinitis Pigmentosa-Associated TOPORS Protein Truncating Variants Are Exclusively Located in the Region of Amino Acid Residues 807 to 867., [RefSeq, PubMed]; Functions as an E3 ubiquitin-protein ligase and as an E3 SUMO1-protein ligase. Probable tumor suppressor involved in cell growth, cell proliferation and apoptosis that regulates p53/TP53 stability through ubiquitin-dependent degradation. May regulate chromatin modification through sumoylation of several chromatin modification-associated proteins. May be involved in DNA damage-induced cell death through IKBKE sumoylation., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Mutations of TOPORS identified in families with retinitis pigmentosa., [RefSeq, PubMed]; P26s4 Associates with the C-Terminal Region of TOPORS. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a nuclear protein which is serine and arginine rich, and contains a RING-type zinc finger domain. It is highly expressed in the testis, and functions as an ubiquitin-protein E3 ligase. Mutations in this gene are associated with retinitis pigmentosa type 31. Alternatively spliced transcript variants, encoding different isoforms, have been observed for this locus. [provided by RefSeq, Sep 2010]., [RefSeq]; Topors, a p53 and topoisomerase I binding protein, interacts with the adeno-associated virus (AAV-2) Rep78/68 proteins and enhances AAV-2 gene 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 9, "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": "O43273;Q6P987;Q9NS55;Q9UNR9", "ec_number_list": [ { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" } ], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity;GO:0019789 SUMO transferase activity", "go_cellular_component": "GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0005814 centriole", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0016925 protein sumoylation;GO:0043066 negative regulation of apoptotic process;GO:0006974 DNA damage response;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 15.4, "record_id": "Q9NS56-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NVH6-1", "uniprot_id": [ { "id": "TMLH_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NVH6", "type": "external" } ], "mass": 49518.0, "length": 421, "protein_name": "Trimethyllysine dioxygenase, mitochondrial", "gene_name": "TMLHE", "organism": "Human", "refseq_name": "trimethyllysine dioxygenase, mitochondrial isoform 2 precursor", "refseq_ac": [ { "id": "NP_001171726", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171726", "type": "external" } ], "gene_names_uniprotkb": "TMLHE; TMLH", "gene_names_refseq": "AUTSX6; BBOX2; TMLD; TMLHED; TMLHE; TMLH; XAP130", "protein_names_uniprotkb": "Trimethyllysine dioxygenase, mitochondrial; 1.14.11.8; Epsilon-trimethyllysine 2-oxoglutarate dioxygenase; Epsilon-trimethyllysine hydroxylase; TML dioxygenase; TML hydroxylase; TML-alpha-ketoglutarate dioxygenase; TMLD", "protein_names_refseq": "TML hydroxylase; TML-alpha-ketoglutarate dioxygenase; butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2; epsilon-trimethyllysine 2-oxoglutarate dioxygenase; epsilon-trimethyllysine hydroxylase; trimethyllysine dioxygenase, mitochondrial isoform 2 precursor; trimethyllysine dioxygenase, mitochondrial", "tax_id": 9606, "disease": "autistic disorder (Disease Ontology:DOID:12849); epsilon-trimethyllysine hydroxylase deficiency (MONDO:MONDO:0010469)", "pathway": " (hsa:55217); (R-HSA-71262)", "pathway_count": 2, "publication_count": 44, "publication_id_list": "10702312;11431483;11802770;15754339;17408883;19608861;20599753;21209280;21865298;23092983;26154972;26992070;27965989;28045275;28492696;28904123;2925663;29437277;30315122;30410026;30429286;30898847;30914451;3110140;31844290;32157095;32161166;32357974;32387766;32897882;32938616;32983136;33298915;33592498;33691108;33981976;34185709;34509645;34932366;35051231;36010968;6497835;6795186;9753662", "class_list": "", "function": "By 5' and 3' RACE, we identified and mapped two alternative 5' TMLH first exons and seven alternative 3'-splice variants., [RefSeq, PubMed]; C-terminal region of trimethyllysine hydroxylase, epsilon contains the main determinants for its enzymatic activity including a key H389 residue, [RefSeq, PubMed]; Case Report: complex recombination with deletion in the F8 and duplication in the TMLHE mediated by int22h copies during early embryogenesis in proband's mother., [RefSeq, PubMed]; Converts trimethyllysine (TML) into hydroxytrimethyllysine (HTML) in the carnitine biosynthesis pathway., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Lacks trimethyllysine dioxygenase activity., [UniProtKB, PubMed]; This gene encodes the protein trimethyllysine dioxygenase which is the first enzyme in the carnitine biosynthesis pathway. Carnitine play an essential role in the transport of activated fatty acids across the inner mitochondrial membrane. The encoded protein converts trimethyllysine into hydroxytrimethyllysine. A pseudogene of this gene is found on chromosome X. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]., [RefSeq]; This work demonstrates the importance of the recognition sites that contribute to the enzymatic activity of TMLH: the Fe(II)-binding H242-D244-H389 residues, R391-R398 involved in 2OG binding and several residues (D231, N334 and the aromatic cage comprised of W221, Y217 and Y234) associated with binding of (2S)-N (epsilon)-trimethyllysine. Publication Status: Online-Only, [RefSeq, PubMed]; Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "A8K6M9;B4E3R3;Q5TZB5;Q6IA90;Q8TBT0", "ec_number_list": [ { "id": "1.14.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.8", "type": "external" } ], "go_molecular_function": "GO:0005506 iron ion binding;GO:0050353 trimethyllysine dioxygenase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0045329 carnitine biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q9NVH6-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "C9J1S8-1", "uniprot_id": [ { "id": "TR49D_HUMAN", "url": "https://www.uniprot.org/uniprot/C9J1S8", "type": "external" } ], "mass": 52496.0, "length": 452, "protein_name": "Tripartite motif-containing protein 49D", "gene_name": "TRIM49D1; TRIM49D2", "organism": "Human", "refseq_name": "tripartite motif-containing protein 49D", "refseq_ac": [ { "id": "NP_001098992", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001098992", "type": "external" } ], "gene_names_uniprotkb": "TRIM49D1; TRIM49D2; TRIM49D2P; TRIM49L1; TRIM49L", "gene_names_refseq": "TRIM48L1; TRIM49D2; TRIM49L1; TRIM49L", "protein_names_uniprotkb": "Tripartite motif-containing protein 49D; Tripartite motif-containing protein 49-like protein; Tripartite motif-containing protein 49D1; Tripartite motif-containing protein 49D2", "protein_names_refseq": "tripartite motif-containing protein 49-like protein; tripartite motif-containing protein 49D1; tripartite motif-containing protein 49D", "tax_id": 9606, "disease": "", "pathway": " (hsa:399939); (hsa:729384)", "pathway_count": 2, "publication_count": 5, "publication_id_list": "11237011;22144910;25892735;29242379;30429286", "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": "I1YAP9", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0045087 innate immune response;GO:0010468 regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "C9J1S8-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5SV17-1", "uniprot_id": [ { "id": "TM240_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5SV17", "type": "external" } ], "mass": 19908.0, "length": 173, "protein_name": "Transmembrane protein 240", "gene_name": "TMEM240", "organism": "Human", "refseq_name": "transmembrane protein 240", "refseq_ac": [ { "id": "NP_001108220", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001108220", "type": "external" } ], "gene_names_uniprotkb": "TMEM240; C1orf70", "gene_names_refseq": "C1orf70; SCA21; TMEM240", "protein_names_uniprotkb": "Transmembrane protein 240", "protein_names_refseq": "transmembrane protein 240; transmembrane protein C1orf70", "tax_id": 9606, "disease": "spinocerebellar ataxia 21 (Disease Ontology:DOID:0050972)", "pathway": " (hsa:339453)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;12402269;15148151;25070513;25418920;29053796;32002801;32398064;32535204;35715741;38617829", "class_list": "", "function": "A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1., [RefSeq, PubMed]; Hypermethylation and decreased expression of TMEM240 are potential early-onset biomarkers for colorectal cancer detection, poor prognosis, and early recurrence prediction. Publication Status: Online-Only, [RefSeq, PubMed]; Hypermethylation of TMEM240 predicts poor hormone therapy response and disease progression in breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Neural-specific distribution of transmembrane protein TMEM240 and formation of TMEM240-Body., [RefSeq, PubMed]; Observational study of genotype prevalence. (HuGE Navigator), [RefSeq, PubMed]; The TMEM240 Protein, Mutated in SCA21, Is Expressed in Purkinje Cells and Synaptic Terminals., [RefSeq, PubMed]; The causative mutation of spinocerebellar ataxia 21 is the transmembrane protein gene TMEM240, [RefSeq, PubMed]; This gene encodes a transmembrane-domain containing protein found in the brain and cerebellum. Mutations in this gene result in spinocerebellar ataxia 21. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B9EJG7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0097060 synaptic membrane;GO:0098839 postsynaptic density membrane;GO:0098688 parallel fiber to Purkinje cell synapse;GO:0150053 cerebellar climbing fiber to Purkinje cell synapse;GO:0160045 TMEM240-body", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q5SV17-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0PK05-1", "uniprot_id": [ { "id": "TMM72_HUMAN", "url": "https://www.uniprot.org/uniprot/A0PK05", "type": "external" } ], "mass": 29891.0, "length": 275, "protein_name": "Transmembrane protein 72", "gene_name": "TMEM72", "organism": "Human", "refseq_name": "transmembrane protein 72 isoform 1", "refseq_ac": [ { "id": "NP_001116848", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116848", "type": "external" } ], "gene_names_uniprotkb": "TMEM72; C10orf127; KSP37", "gene_names_refseq": "C10orf127; KSP37; TMEM72", "protein_names_uniprotkb": "Transmembrane protein 72; Kidney-specific secretory protein of 37 kDa", "protein_names_refseq": "kidney-specific secretory protein of 37 kDa; transmembrane protein 72 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:643236)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "36478074;37293153", "class_list": "", "function": "ER export signals mediate plasma membrane localization of transmembrane protein TMEM72., [RefSeq, PubMed]; This gene encodes a transmembrane protein which may be expressed specifically in the kidney. [provided by RefSeq, Sep 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 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"https://www.ncbi.nlm.nih.gov/protein/NP_001078898", "type": "external" } ], "gene_names_uniprotkb": "TMEM213", "gene_names_refseq": "TMEM213", "protein_names_uniprotkb": "Transmembrane protein 213", "protein_names_refseq": "transmembrane protein 213 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:155006)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "29557506;35051231;37293153", "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, 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IFITMD2", "gene_names_refseq": "DSPB2; IFITMD2; TMEM233", "protein_names_uniprotkb": "Transmembrane protein 233; DSPB2; Dispanin subfamily B member 2; Interferon-induced transmembrane domain-containing protein D2", "protein_names_refseq": "dispanin subfamily B member 2; interferon induced transmembrane protein domain containing 2; interferon-induced transmembrane domain-containing protein D2; transmembrane protein 233", "tax_id": 9606, "disease": "", "pathway": " (hsa:387890)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "22363774;37117223", "class_list": "", "function": "Probable accessory protein of voltage-gated sodium channels., [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:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "B4DJY2-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "C9JI98-1", "uniprot_id": [ { "id": "TM238_HUMAN", "url": "https://www.uniprot.org/uniprot/C9JI98", "type": "external" } ], "mass": 18040.0, "length": 176, "protein_name": "Transmembrane protein 238", "gene_name": "TMEM238", "organism": "Human", "refseq_name": "transmembrane protein 238", "refseq_ac": [ { "id": "NP_001177693", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177693", "type": "external" } ], "gene_names_uniprotkb": "TMEM238", "gene_names_refseq": "TMEM238", "protein_names_uniprotkb": "Transmembrane protein 238", "protein_names_refseq": "transmembrane protein 238", "tax_id": 9606, "disease": "", "pathway": " (hsa:388564)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "18669648;25418920;25645385;28832583;29242379;29557506;29632046;30315122;32350084;32357974;33968037;34087483;34357683;35051231;35251023;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": 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_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "C9JI98-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14657-1", "uniprot_id": [ { "id": "TOR1B_HUMAN", "url": "https://www.uniprot.org/uniprot/O14657", "type": "external" } ], "mass": 37979.0, "length": 336, "protein_name": "Torsin-1B", "gene_name": "TOR1B", "organism": "Human", "refseq_name": "torsin-1B isoform 2 precursor", "refseq_ac": [ { "id": "NP_001304822", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304822", "type": "external" } ], "gene_names_uniprotkb": "TOR1B; DQ1; FKSG18", "gene_names_refseq": "DQ1; TOR1B", "protein_names_uniprotkb": "Torsin-1B; 3.6.4.-; Torsin ATPase-1B; Torsin family 1 member B", "protein_names_refseq": "torsin ATPase-1B; torsin B; torsin-1B isoform 2 precursor; torsin-1B", "tax_id": 9606, "disease": "torsion dystonia 1 (Disease Ontology:DOID:0060730); Parkinson's disease (Disease Ontology:DOID:14330); dystonia (Disease Ontology:DOID:543)", "pathway": " (hsa:27348); (R-HSA-8856825)", "pathway_count": 2, "publication_count": 136, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10097102;10436022;10567358;10613896;10769163;10983987;11071885;11076969;11237011;11247302;11454741;11588219;11919637;11927540;11988742;12086608;12221107;12234931;12429842;12451172;12464600;12717448;12944396;12958364;1317852;14662753;14726597;15134832;15147511;1535555;15473838;15671180;15728179;16159959;16459302;16460808;16516836;16723738;16903783;16938275;17267500;17360967;17456551;17522231;17713526;18032517;18166656;18199683;18775314;18819912;19140243;1968060;19696798;19732400;19853559;20015956;20231386;20351096;20669276;21102408;21995445;22118466;22357968;22484487;2257624;22942912;23090970;23481700;23569223;23584533;24186068;24190977;24275647;24384571;24680432;24715725;24746795;25645385;25880248;25892735;26403691;26829388;27920218;28228285;28467828;28514659;28904123;2890644;29242379;29331515;29393594;29557506;29741879;29769354;30779550;30833945;31217245;31611695;31844290;32157095;32350084;32357974;32387766;32938616;33298915;33912179;33936100;33968037;33981976;34171305;3417785;34357683;34433824;34509645;34932366;35051231;35251023;35318648;36010968;36215666;36707670;37074911;37938771;38842687;40914422;7569928;7822302;8553074;8837779;9169477;9288096;9303539;9723620;9812899", "class_list": "", "function": "May serve as a molecular chaperone assisting in the proper folding of secreted and/or membrane proteins. Plays a role in non-neural cells nuclear envelope and endoplasmic reticulum integrity. May have a redundant function with TOR1A in non-neural tissues., [UniProtKB, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Prognostic implications of TOR1B expression across cancer types: a focus on basal-like breast cancer and cellular adaptations to hypoxia. Publication Status: Online-Only, [RefSeq, PubMed]; TOR1B: a predictor of bone metastasis in breast cancer patients. Publication Status: Online-Only, [RefSeq, PubMed]; The induction of a conditional, dominant-negative TorsinB variant provokes a profound reorganization of the endomembrane system into foci containing double membrane structures that are derived from the ER., [RefSeq, PubMed]; The protein encoded by this gene is an ATPase found primarily in the endoplasmic reticulum and nuclear envelope. This gene has a highly-similar neighboring gene, TOR1A, that encodes a protein that is likely to interact in a complex with this protein. Finally, this protein may act as a chaperone and play a role in maintaining the integrity of the nuclear envelope and endoplasmic reticulum. Several transcript variants, some protein-coding and others non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2015]., [RefSeq]; TorsinB is needed for developmental events occurring in the early postnatal phase and is necessary for functional activity throughout life, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 10, "disease_count": 3, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0016887 ATP hydrolysis activity;GO:0019894 kinesin binding", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0031965 nuclear membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0034504 protein localization to nucleus;GO:0006986 response to unfolded protein;GO:0007029 endoplasmic reticulum organization;GO:0071763 nuclear membrane organization", "synthesized_glycan_count": 0, "hit_score": 15.2, "record_id": "O14657-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6PEY1-1", "uniprot_id": [ { "id": "TMM88_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6PEY1", "type": "external" } ], "mass": 17251.0, "length": 159, "protein_name": "Transmembrane protein 88", "gene_name": "TMEM88", "organism": "Human", "refseq_name": "transmembrane protein 88 isoform 1", "refseq_ac": [ { "id": "NP_981956", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_981956", "type": "external" } ], "gene_names_uniprotkb": "TMEM88; TMEM88A", "gene_names_refseq": "TMEM88", "protein_names_uniprotkb": "Transmembrane protein 88", "protein_names_refseq": "transmembrane protein 88 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:92162)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;21044957;22573352;23924634;26325443;28832583;32157095;32463570;32710906;33167758;34057764", "class_list": "", "function": "Inhibits the Wnt/beta-catenin signaling pathway. Crucial for heart development and acts downstream of GATA factors in the pre-cardiac mesoderm to specify lineage commitment of cardiomyocyte development., [UniProtKB, PubMed]; MiRNA-708 acts as an oncogene contributing to tumor growth and disease progression by directly downregulating TMEM88, [RefSeq, PubMed]; MicroRNA-708 modulates Hepatic Stellate Cells activation and enhances extracellular matrix accumulation via direct targeting TMEM88., [RefSeq, PubMed]; TMEM88 associates with Dvl proteins and regulates Wnt signaling in a context-dependent manner, [RefSeq, PubMed]; TMEM88 exhibits an antiproliferative and anti-invasive effect in bladder cancer by downregulating Wnt/beta-catenin signaling., [RefSeq, PubMed]; TMEM88 is crucial for heart development and acts downstream of GATA factors in the pre-cardiac mesoderm to specify lineage commitment of cardiomyocyte., [RefSeq, PubMed]; TMEM88 stimulated triple negative breast cancer cell invasion by interacting with DVL1., [RefSeq, PubMed]; Transmembrane protein 88 exerts a tumor-inhibitory role in thyroid cancer through restriction of Wnt/beta-catenin signaling., [RefSeq, PubMed]; Transmembrane protein 88 inhibits transforming growth factor-beta1-induced-extracellular matrix accumulation and epithelial-mesenchymal transition program in human pleural mesothelial cells through modulating TGF-beta1/Smad 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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:0030165 PDZ domain binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0072659 protein localization to plasma membrane;GO:0090090 negative regulation of canonical Wnt signaling pathway;GO:0050821 protein stabilization;GO:0016055 Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q6PEY1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H6F2-1", "uniprot_id": [ { "id": "TM38A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H6F2", "type": "external" } ], "mass": 33260.0, "length": 299, "protein_name": "Trimeric intracellular cation channel type A", "gene_name": "TMEM38A", "organism": "Human", "refseq_name": "trimeric intracellular cation channel type A", "refseq_ac": [ { "id": "NP_076979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_076979", "type": "external" } ], "gene_names_uniprotkb": "TMEM38A; TRICA", "gene_names_refseq": "TMEM38A; TRIC-A; TRICA", "protein_names_uniprotkb": "Trimeric intracellular cation channel type A; TRIC-A; TRICA; Transmembrane protein 38A", "protein_names_refseq": "trimeric intracellular cation channel type A", "tax_id": 9606, "disease": "", "pathway": " (hsa:79041)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "11237011;17611541;19913121;20112406;20628086;25418920;25469497;25892735;26154972;26811146;26929215;27846572;27920218;28228285;28832583;29242379;29393594;29632046;29769354;30315122;31217245;31844290;32157095;32330125;32357974;32387766;33298915;33717175;33936100;33968037;38327905;38556553", "class_list": "", "function": "Exploring a novel seven-gene marker and mitochondrial gene TMEM38A for predicting cervical cancer radiotherapy sensitivity using machine learning algorithms. Publication Status: Online-Only, [RefSeq, PubMed]; Intracellular monovalent cation channel required for maintenance of rapid intracellular calcium release. Acts as a potassium counter-ion channel that functions in synchronization with calcium release from intracellular stores. Opened by a change of voltage within the sarcoplasmic reticulum lumen., [UniProtKB, UniProtKB, 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]; TRIC-A is a negative regulator of STIM1/Orai1 function.TRIC-A interacts with STIM1 and coclusters at endoplasmic reticulum-plasma membrane junctions. 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": "A8K9P9", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0005267 potassium channel activity", "go_cellular_component": "GO:0031965 nuclear membrane;GO:0070062 extracellular exosome;GO:0016529 sarcoplasmic reticulum;GO:0033017 sarcoplasmic reticulum membrane", "go_biological_process": "GO:0051279 regulation of release of sequestered calcium ion into cytosol;GO:0071805 potassium ion transmembrane transport;GO:0014808 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q9H6F2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C7H9-1", "uniprot_id": [ { "id": "U17L7_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C7H9", "type": "external" } ], "mass": 59751.0, "length": 530, "protein_name": "Inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 7", "gene_name": "USP17L7", "organism": "Human", "refseq_name": "inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 7", "refseq_ac": [ { "id": "NP_001243798", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243798", "type": "external" } ], "gene_names_uniprotkb": "USP17L7", "gene_names_refseq": "USP17L7", "protein_names_uniprotkb": "Inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 7", "protein_names_refseq": "inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 7; ubiquitin specific peptidase 17-like 7", "tax_id": 9606, "disease": "congenital heart disease (Disease Ontology:DOID:1682); primary ovarian insufficiency (Disease Ontology:DOID:5426)", "pathway": " (hsa:392197)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "15780755;17109758", "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:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0031647 regulation of protein stability;GO:0042981 regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "P0C7H9-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q06643-1", "uniprot_id": [ { "id": "TNFC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q06643", "type": "external" } ], "mass": 25390.0, "length": 244, "protein_name": "Lymphotoxin-beta", "gene_name": "LTB", "organism": "Human", "refseq_name": "lymphotoxin-beta isoform a", "refseq_ac": [ { "id": "NP_002332", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002332", "type": "external" } ], "gene_names_uniprotkb": "LTB; TNFC; TNFSF3", "gene_names_refseq": "LTB; TNFC; TNFSF3; TNLG1C; p33", "protein_names_uniprotkb": "Lymphotoxin-beta; LT-beta; TNF-C; Tumor necrosis factor C; Tumor necrosis factor ligand superfamily member 3", "protein_names_refseq": "LT-beta; TNF superfamily member 3; TNF-C; lymphotoxin beta (TNF superfamily, member 3); lymphotoxin-beta isoform a; tumor necrosis factor C; tumor necrosis factor ligand 1C; tumor necrosis factor ligand superfamily member 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:4050); (R-HSA-5668541); (R-HSA-5676594)", "pathway_count": 3, "publication_count": 68, "publication_id_list": "10085077;10202016;10359578;10797013;11728344;11853672;12374738;12529173;12571250;12721620;12787562;14656967;15084608;15368291;15585864;15644327;15824857;17636564;18635759;18997792;18997794;19241374;19426221;19815541;20385556;20483727;21081755;21091114;21850230;23667509;24190977;24248355;24298274;24432023;25152365;25502872;26375851;28467828;28904123;29557506;31154438;31844290;32983136;33298915;33633747;33912179;34078123;34357683;35051231;35580925;35929442;36348017;37919527;37938771;39147874;40914422;7544915;7639698;7916655;8521496;8663299;8702708;9122217;9247583;9299492;9367155;9718306;9852070", "class_list": "", "function": "Cytokine that binds to LTBR/TNFRSF3 (PubMed:24248355). May play a specific role in immune response regulation. Provides the membrane anchor for the attachment of the heterotrimeric complex to the cell surface. Isoform 2 is probably non-functional., [UniProtKB, PubMed]; DNA methylation status of the SPHK1 and LTB genes underlies the clinicopathological diversity of non-alcoholic steatohepatitis-related hepatocellular carcinomas., [RefSeq, PubMed]; Gastrointestinal Symptom Cluster is Associated With Epigenetic Regulation of Lymphotoxin Beta in Oncology Patients Receiving Chemotherapy., [RefSeq, PubMed]; Long Non-Coding RNA AL928768.3 Promotes Rheumatoid Arthritis Fibroblast-Like Synoviocytes Proliferation, Invasion and Inflammation, While Inhibits Apoptosis Via Activating Lymphotoxin Beta Mediated NF-kappaB Signaling Pathway., [RefSeq, PubMed]; Lymphotoxin beta is a type II membrane protein of the TNF family. It anchors lymphotoxin-alpha to the cell surface through heterotrimer formation. The predominant form on the lymphocyte surface is the lymphotoxin-alpha 1/beta 2 complex (e.g. 1 molecule alpha/2 molecules beta) and this complex is the primary ligand for the lymphotoxin-beta receptor. The minor complex is lymphotoxin-alpha 2/beta 1. LTB is an inducer of the inflammatory response system and involved in normal development of lymphoid tissue. Lymphotoxin-beta isoform b is unable to complex with lymphotoxin-alpha suggesting a function for lymphotoxin-beta which is independent of lympyhotoxin-alpha. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]; Lymphotoxin-beta promotes breast cancer bone metastasis colonization and osteolytic 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": 0, "reported_mutagensis": 4, "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": "P78370;Q52LU8;Q99761", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005125 cytokine activity;GO:0005164 tumor necrosis factor receptor binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane", "go_biological_process": "GO:0036145 dendritic cell homeostasis;GO:0006955 immune response;GO:0007165 signal transduction;GO:0007166 cell surface receptor signaling pathway;GO:0007267 cell-cell signaling", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q06643-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q17RH7-1", "uniprot_id": [ { "id": "TPRXL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q17RH7", "type": "external" } ], "mass": 17344.0, "length": 139, "protein_name": "Tetra-peptide repeat homeobox-like protein", "gene_name": "TPRXL", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TPRXL", "gene_names_refseq": "", "protein_names_uniprotkb": "Tetra-peptide repeat homeobox-like protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-9819196)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "22209328;23934149;24278031;26360614;26951377;27062923;28459456;28459457;30379171;31630170;34267371;35402882;36074823", "class_list": "", "function": "Transcription factor required for zygotic genome activation (ZGA), a critical event in early embryonic development during which the developmental control passes from maternally provided mRNAs to the expression of the zygotic genome after fertilization (PubMed:36074823). Protein produced from maternal transcripts that binds and activates expression of key ZGA marker genes, such as NANOGNB, ZSCAN4, DUXB, KLF5 and DPPA3 (PubMed:36074823). Binds to regulatory DNA sequences containing a 5'-TAATCC-3' sequence motif (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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q8NAM5", "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:0005654 nucleoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0160021 maternal-to-zygotic transition of gene expression", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q17RH7-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3KNT9-1", "uniprot_id": [ { "id": "TMM95_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3KNT9", "type": "external" } ], "mass": 19597.0, "length": 176, "protein_name": "Sperm-egg fusion protein TMEM95", "gene_name": "TMEM95", "organism": "Human", "refseq_name": "sperm-egg fusion protein TMEM95 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001307364", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307364", "type": "external" } ], "gene_names_uniprotkb": "TMEM95; PRO34281", "gene_names_refseq": "TMEM95; UNQ9390", "protein_names_uniprotkb": "Sperm-egg fusion protein TMEM95; Transmembrane protein 95", "protein_names_refseq": "sperm-egg fusion protein TMEM95 isoform 1 precursor; sperm-egg fusion protein TMEM95", "tax_id": 9606, "disease": "", "pathway": " (hsa:339168)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "12975309;36161911", "class_list": "", "function": "Human sperm TMEM95 binds eggs and facilitates membrane fusion., [RefSeq, PubMed]; Sperm protein required for fusion of sperm with the egg membrane during fertilization., [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": 2, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7WPI7;Q6UXT3;Q8IW68", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0097524 sperm plasma membrane;GO:0002080 acrosomal membrane", "go_biological_process": "GO:0007342 fusion of sperm to egg plasma membrane involved in single fertilization", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q3KNT9-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P7N7-1", "uniprot_id": [ { "id": "TMM81_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P7N7", "type": "external" } ], "mass": 28468.0, "length": 255, "protein_name": "Transmembrane protein 81", "gene_name": "TMEM81", "organism": "Human", "refseq_name": "transmembrane protein 81 precursor", "refseq_ac": [ { "id": "NP_976310", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_976310", "type": "external" } ], "gene_names_uniprotkb": "TMEM81; PRO7178", "gene_names_refseq": "HC3107; KVLA2788; TMEM81; UNQ2788", "protein_names_uniprotkb": "Transmembrane protein 81", "protein_names_refseq": "transmembrane protein 81 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:388730)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "12975309;29351928;29557506;31154438;31844290;34087483;35494241;39423812", "class_list": "", "function": "Essential fertilization factor required for male fertility. Part of a conserved trimeric sperm complex with the essential fertilization factors IZUMO1 and SPACA6 which bridges sperm and oocyte membranes during fertilization by binding to IZUMO1R/JUNO on the oocyte., [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q6UVZ4", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0035036 sperm-egg recognition", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q6P7N7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UXU6-1", "uniprot_id": [ { "id": "TMM92_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UXU6", "type": "external" } ], "mass": 17229.0, "length": 159, "protein_name": "Transmembrane protein 92", "gene_name": "TMEM92", "organism": "Human", "refseq_name": "transmembrane protein 92 precursor", "refseq_ac": [ { "id": "NP_001161687", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161687", "type": "external" } ], "gene_names_uniprotkb": "TMEM92; PRO19608", "gene_names_refseq": "TMEM92", "protein_names_uniprotkb": "Transmembrane protein 92", "protein_names_refseq": "transmembrane protein 92 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:162461)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "12975309;19834535;32835947;35051231", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Transmembrane protein 92 performs a tumor-promoting function in breast carcinoma by contributing to the cell growth, invasion, migration and epithelial-mesenchymal transition., [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": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q8NBF0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q6UXU6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZMR5-2", "uniprot_id": [ { "id": "TM11A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZMR5", "type": "external" } ], "mass": 47226.0, "length": 418, "protein_name": "Transmembrane protease serine 11A", "gene_name": "TMPRSS11A", "organism": "Human", "refseq_name": "transmembrane protease serine 11A isoform 2", "refseq_ac": [ { "id": "NP_001107859", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001107859", "type": "external" } ], "gene_names_uniprotkb": "TMPRSS11A; ECRG1; HATL1; HESP", "gene_names_refseq": "ECRG1; HATL1; HESP; TMPRSS11A", "protein_names_uniprotkb": "Transmembrane protease serine 11A; 3.4.21.-; Airway trypsin-like protease 1; Epidermal type-II transmembrane serine protease; Esophageal cancer-susceptibility gene 1 protein", "protein_names_refseq": "airway trypsin-like protease 1; epidermal type-II transmembrane serine protease; esophageal cancer-susceptibility gene 1 protein; transmembrane protease serine 11A isoform 2; transmembrane protease, serine 11A", "tax_id": 9606, "disease": "", "pathway": " (hsa:339967)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "10920976;12838346;15095404;16267096;17971341;19052822;19394797;23481570;23548972;23869757;29976755;32675285", "class_list": "", "function": "DNA polymorphisms in the coding region of ECRG1 are associated with poor outcome after surgical resection in esophageal carcinoma. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Data show that the allele types of ECRG1 were Arg/Arg (54.2%), Arg/Gln (45.8%) and Gln/Gln (0.00%), and the allele types of FGFR4 amino acid 388 were Arg/Arg (8.3%), Arg/Gly (54.2%) and Gly/Gly (37.5%)., [RefSeq, PubMed]; ECRG1 Arg290Gln polymorphism significantly affects the susceptibility but not the prognosis of esophageal squamous cell carcinoma patients in low-risk north Indian population., [RefSeq, PubMed]; Findings indicate that ECRG1 may be a candidate tumor suppressor gene for esophageal cancer involved in cell-cycle control, [RefSeq, PubMed]; Intracellular autoactivation of TMPRSS11A, an airway epithelial transmembrane serine protease., [RefSeq, PubMed]; No significant association between single nucleotide polymorphisms Arg/Arg, Arg/Gln and Gln/Gln and survival in oral squamous cell carcinoma GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Probable serine protease which may play a role in cellular senescence. Overexpression inhibits cell growth and induce G1 cell cycle arrest., [UniProtKB]; Show that TMPRSS11A, another member of the TTSP family, cleaves and activates the influenza A virus (FLUAV) HA and the Middle East respiratory syndrome coronavirus spike protein (MERS-S)., [RefSeq, PubMed]; This suggests that substitution of the arginine in the conserved catalytic domain of the ECRG1 protein might reduce its catalytic capacity by impacting its 3-dimensional conformation, thereby causing the genetic susceptibility to ESCC. [review] Review article, [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": 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": 3, "binding_glycan_count": 0, "secondary_ac_list": "J3KNQ8;Q2NKI9;Q6JE90;Q7RTY4;Q86TK8", "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:0005886 plasma membrane", "go_biological_process": "GO:0016485 protein processing", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q6ZMR5-2", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86T82-1", "uniprot_id": [ { "id": "UBP37_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86T82", "type": "external" } ], "mass": 110170.0, "length": 979, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 37", "gene_name": "USP37", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 37", "refseq_ac": [ { "id": "NP_065986", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065986", "type": "external" } ], "gene_names_uniprotkb": "USP37; KIAA1594", "gene_names_refseq": "USP37", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 37; 3.4.19.12; Deubiquitinating enzyme 37; Ubiquitin thioesterase 37; Ubiquitin-specific-processing protease 37", "protein_names_refseq": "deubiquitinating enzyme 37; tmp_locus_50; ubiquitin carboxyl-terminal hydrolase 37; ubiquitin specific protease 37; ubiquitin thioesterase 37; ubiquitin thiolesterase 37; ubiquitin-specific-processing protease 37", "tax_id": 9606, "disease": "", "pathway": " (hsa:57695); (R-HSA-5689880)", "pathway_count": 2, "publication_count": 140, "publication_id_list": "10.1101/2023.09.13.557529;10444327;10982817;11566882;11923872;12917689;12917691;14661020;14715245;15053880;15916963;16214042;16901786;16964248;17081983;17290220;17443180;17873522;17980597;17981138;18172164;18467330;18632802;18636086;18669648;19015242;19135894;19188362;19363159;19398555;19413330;19424180;19838211;19851296;19874889;19910467;20096447;20228808;20368735;20501646;21239494;21362556;21571647;21596315;21659512;21849505;21962518;22029577;22085928;22128162;22216260;23159851;23186163;23395819;23481700;23486064;23824326;23825189;24056413;24260525;24493797;24715725;24896179;25197364;25305019;25418920;25505266;25576301;25578727;25880248;25892735;26154972;26299517;26375851;26992070;27296872;27846572;27920218;28063628;28218747;28228285;28446606;28832583;28834231;28855257;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30379171;30410026;30429286;30524438;30779550;30833945;31154438;31530632;31844290;31848261;31911859;31998317;32157095;32161166;32265295;32357974;32387766;32461361;32502341;32897882;32938616;32983136;33298915;33390801;33691108;33717175;33912179;33968037;33981976;34171305;34509474;34606619;34932366;35051231;35580925;36010968;36241641;36284347;36333840;36581221;37118828;38253038;7578059", "class_list": "", "function": "Deubiquitinase that plays a role in different processes including cell cycle regulation, DNA replication or DNA damage response (PubMed:26299517, PubMed:27296872, PubMed:31911859, PubMed:34509474). Antagonizes the anaphase-promoting complex (APC/C) during G1/S transition by mediating deubiquitination of cyclin-A (CCNA1 and CCNA2), thereby promoting S phase entry. Specifically mediates deubiquitination of 'Lys-11'-linked polyubiquitin chains, a specific ubiquitin-linkage type mediated by the APC/C complex. Phosphorylation at Ser-628 during G1/S phase maximizes the deubiquitinase activity, leading to prevent degradation of cyclin-A (CCNA1 and CCNA2) (PubMed:21596315). Plays an important role in the regulation of DNA replication by stabilizing the licensing factor CDT1 (PubMed:27296872). Also plays an essential role beyond S-phase entry to promote the efficiency and fidelity of replication by deubiquitinating checkpoint kinase 1/CHK1, promoting its stability (PubMed:34509474). Sustains the DNA damage response (DDR) by deubiquitinating and stabilizing the ATP-dependent DNA helicase BLM (PubMed:34606619). Mechanistically, DNA double-strand breaks (DSB) promotes ATM-mediated phosphorylation of USP37 and enhances the binding between USP37 and BLM (PubMed:34606619). Promotes cell migration by deubiquitinating and stabilizing the epithelial-mesenchymal transition (EMT)-inducing transcription factor SNAI (PubMed:31911859). Plays a role in the regulation of mitotic spindle assembly and mitotic progression by associating with chromatin-associated WAPL and stabilizing it through deubiquitination (PubMed:26299517)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The deubiquitinating enzyme USP37 promotes keloid fibroblasts proliferation and collagen production by regulating the c-Myc expression., [RefSeq, PubMed]; USP37 downregulation elevates the Chemical Sensitivity of Human Breast Cancer Cells to Adriamycin. Publication Status: Online-Only, [RefSeq, PubMed]; USP37 promotes deubiquitination of HIF2alpha in kidney cancer., [RefSeq, PubMed]; USP37 regulates DNA damage response through stabilizing and deubiquitinating BLM. Erratum:[Nucleic Acids Res. 2023 Mar 21;51(5):2496-2497. doi: 10.1093/nar/gkad070. PMID: 36744478], [RefSeq, PubMed]; Ubiquitin specific peptidase 37 and PCNA interaction promotes osteosarcoma pathogenesis by modulating replication fork progression. 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": 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": 8, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 25, "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": "A2RUQ8;B7ZM38;B7ZM41;E9PHL3;Q2KHT2;Q53S10;Q7Z3A5;Q9HCH8", "ec_number_list": [ { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" } ], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0004197 cysteine-type endopeptidase activity;GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005694 chromosome", "go_biological_process": "GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0051301 cell division;GO:0031647 regulation of protein stability;GO:0000082 G1/S transition of mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 14.6, "record_id": "Q86T82-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N609-1", "uniprot_id": [ { "id": "TR1L1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N609", "type": "external" } ], "mass": 42162.0, "length": 369, "protein_name": "Translocating chain-associated membrane protein 1-like 1", "gene_name": "TRAM1L1", "organism": "Human", "refseq_name": "translocating chain-associated membrane protein 1-like 1", "refseq_ac": [ { "id": "NP_689615", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689615", "type": "external" } ], "gene_names_uniprotkb": "TRAM1L1", "gene_names_refseq": "TRAM1L1", "protein_names_uniprotkb": "Translocating chain-associated membrane protein 1-like 1", "protein_names_refseq": "translocating chain-associated membrane protein 1-like 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:133022)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "16303743;20332099;24715725;34087483;35051231;36241641", "class_list": "", "function": "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]; Stimulatory or required for the translocation of secretory proteins across the ER membrane., [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": "Q8N2L7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0045048 protein insertion into ER membrane;GO:0006616 SRP-dependent cotranslational protein targeting to membrane, translocation", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8N609-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N9V7-1", "uniprot_id": [ { "id": "TOPZ1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N9V7", "type": "external" } ], "mass": 190927.0, "length": 1692, "protein_name": "Protein TOPAZ1", "gene_name": "TOPAZ1", "organism": "Human", "refseq_name": "protein TOPAZ1", "refseq_ac": [ { "id": "NP_001138502", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138502", "type": "external" } ], "gene_names_uniprotkb": "TOPAZ1; C3orf77", "gene_names_refseq": "C3orf77; TOPAZ1", "protein_names_uniprotkb": "Protein TOPAZ1; Testis- and ovary-specific PAZ domain-containing protein 1", "protein_names_refseq": "protein TOPAZ1; testis and ovary specific PAZ domain containing 1; testis and ovary-specific PAZ domain gene 1; testis- and ovary-specific PAZ domain-containing protein 1; topaz 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:375337)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "24715725;26811146;27920218;29557506;32938616;33633747;35051231;35580925;37217939", "class_list": "", "function": "Important for normal spermatogenesis and male fertility. Specifically required for progression to the post-meiotic stages of spermatocyte development. Seems to be necessary for normal expression levels of a number of testis-expressed gene transcripts, although its role in this process is unclear., [UniProtKB, UniProtKB]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 47, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0030154 cell differentiation;GO:0048137 spermatocyte division", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q8N9V7-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WW62-1", "uniprot_id": [ { "id": "TMED6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WW62", "type": "external" } ], "mass": 27631.0, "length": 240, "protein_name": "Transmembrane emp24 domain-containing protein 6", "gene_name": "TMED6", "organism": "Human", "refseq_name": "transmembrane emp24 domain-containing protein 6 precursor", "refseq_ac": [ { "id": "NP_653277", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_653277", "type": "external" } ], "gene_names_uniprotkb": "TMED6; PRO34237", "gene_names_refseq": "PRO34237; SPLL9146; TMED6; p24g5", "protein_names_uniprotkb": "Transmembrane emp24 domain-containing protein 6; p24 family protein gamma-5; p24gamma5", "protein_names_refseq": "p24 family protein gamma-5; p24gamma5; transmembrane emp24 domain-containing protein 6 precursor; transmembrane emp24 domain-containing protein 6; transmembrane emp24 protein transport domain containing 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:146456)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "12975309;26045774;28904123", "class_list": "", "function": "TMED6-COG8 chimera might act as a novel diagnostic marker in TFE3 translocation renal cell carcinoma. 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": 9, "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": "Q6UXN5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0030134 COPII-coated ER to Golgi transport vesicle;GO:0005789 endoplasmic reticulum membrane;GO:0005793 endoplasmic reticulum-Golgi intermediate compartment", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0007030 Golgi organization", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q8WW62-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96A61-1", "uniprot_id": [ { "id": "TRI52_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96A61", "type": "external" } ], "mass": 34653.0, "length": 297, "protein_name": "E3 ubiquitin-protein ligase TRIM52", "gene_name": "TRIM52", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase TRIM52 isoform 1", "refseq_ac": [ { "id": "NP_116154", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_116154", "type": "external" } ], "gene_names_uniprotkb": "TRIM52; RNF102", "gene_names_refseq": "RNF102; TRIM52", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase TRIM52; 2.3.2.27; RING finger protein 102; Tripartite motif-containing protein 52", "protein_names_refseq": "E3 ubiquitin-protein ligase TRIM52 isoform 1; E3 ubiquitin-protein ligase TRIM52; RING finger protein 102; tripartite motif-containing protein 52", "tax_id": 9606, "disease": "", "pathway": " (hsa:84851)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;20596523;24158625;25505266;27667714;28073078;28904123;29089476;31002351;31133683;32898524;35676608;36010968;38520211", "class_list": "", "function": "(Microbial infection) Exhibits antiviral activity against Japanese encephalitis virus (JEV). Ubiquitinates the viral non-structural protein 2 (NS2A) and targets it for proteasome-mediated degradation., [UniProtKB, PubMed]; A repetitive acidic region contributes to the extremely rapid degradation of the cell-context essential protein TRIM52. Publication Status: Online-Only, [RefSeq, PubMed]; Based on these data, it was speculated that TRIM52 is critical for lung cancer progression and that downregulation of TRIM52 could inhibit cell proliferation by blocking cell cycle progression., [RefSeq, PubMed]; E3 ubiquitin-protein ligase (PubMed:27667714). Positively regulates the NF-kappa-B signaling pathway (PubMed:27667714, PubMed:28073078)., [UniProtKB, PubMed, PubMed]; Long non-coding RNA TRIM52-AS1 sponges microRNA-577 to facilitate diffuse large B cell lymphoma progression via increasing TRIM52 expression., [RefSeq, PubMed]; TRIM52 can promote cell proliferation and HBx may regulate TRIM52 expression via the NF-kappaB signaling pathway in Hepatitis B Virus-Associated Hepatocellular Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; TRIM52 knockdown inhibits proliferation, inflammatory responses and oxidative stress in IL-1beta-induced synovial fibroblasts to alleviate temporomandibular joint osteoarthritis., [RefSeq, PubMed]; TRIM52 positively mediates NF-kappaB to promote the growth of human benign prostatic hyperplasia cells through affecting TRAF2 ubiquitination., [RefSeq, PubMed]; These data suggested that TRIM52 was a positive regulator of the NF-kappaB 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "L0CQ38;Q59G66", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0045087 innate immune response;GO:0051607 defense response to virus;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0016567 protein ubiquitination;GO:0051865 protein autoubiquitination", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q96A61-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96N35-1", "uniprot_id": [ { "id": "TMM83_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96N35", "type": "external" } ], "mass": 15076.0, "length": 136, "protein_name": "Putative uncharacterized protein encoded by LINC00052", "gene_name": "LINC00052", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC00052; NCRNA00052; TMEM83", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC00052; Putative transmembrane protein 83", "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": "Q96N35-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99727-1", "uniprot_id": [ { "id": "TIMP4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99727", "type": "external" } ], "mass": 25503.0, "length": 224, "protein_name": "Metalloproteinase inhibitor 4", "gene_name": "TIMP4", "organism": "Human", "refseq_name": "metalloproteinase inhibitor 4 precursor", "refseq_ac": [ { "id": "NP_003247", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003247", "type": "external" } ], "gene_names_uniprotkb": "TIMP4", "gene_names_refseq": "TIMP-4; TIMP4", "protein_names_uniprotkb": "Metalloproteinase inhibitor 4; TIMP-4; Tissue inhibitor of metalloproteinases 4", "protein_names_refseq": "metalloproteinase inhibitor 4 precursor; metalloproteinase inhibitor 4; tissue inhibitor of metalloproteinase 4; tissue inhibitor of metalloproteinases 4", "tax_id": 9606, "disease": "ductal carcinoma in situ (Disease Ontology:DOID:0060074); renal hypertension (Disease Ontology:DOID:1073); endometrial cancer (Disease Ontology:DOID:1380); nephroblastoma (Disease Ontology:DOID:2154); endometrial carcinoma (Disease Ontology:DOID:2871); ovarian carcinoma (Disease Ontology:DOID:4001); cervical cancer (Disease Ontology:DOID:4362); renal cell carcinoma (Disease Ontology:DOID:4450); congestive heart failure (Disease Ontology:DOID:6000); abdominal aortic aneurysm (Disease Ontology:DOID:7693); prostate carcinoma in situ (Disease Ontology:DOID:8634)", "pathway": " (hsa:7079)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "27600516;31844290;32938616;34379046;34781885;37495273;38069250;38915119;8939999;9693046", "class_list": "", "function": "Altered brain expression and cerebrospinal fluid levels of TIMP4 in cerebral amyloid angiopathy. Publication Status: Online-Only, [RefSeq, PubMed]; Complexes with metalloproteinases (such as collagenases) and irreversibly inactivates them by binding to their catalytic zinc cofactor. Known to act on MMP-1, MMP-2, MMP-3, MMP-7 and MMP-9., [UniProtKB]; Comprehensive analysis of expression, prognosis and immune infiltration for TIMPs in glioblastoma. Publication Status: Online-Only, [RefSeq, PubMed]; Contribution of gene polymorphisms on 3p25 to salivary gland carcinoma, ameloblastoma, and odontogenic keratocyst in the Chinese Han population., [RefSeq, PubMed]; Defect of TIMP4 Is Associated with High Myopia and Participates in Rat Ocular Development in a Dose-Dependent Manner. Publication Status: Online-Only, [RefSeq, PubMed]; The Expression of Matrix Metalloproteinases in Eyes with Intraocular Lymphoma., [RefSeq, PubMed]; This gene belongs to the TIMP gene family. The proteins encoded by this gene family are inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix. The secreted, netrin domain-containing protein encoded by this gene is involved in regulation of platelet aggregation and recruitment and may play role in hormonal regulation and endometrial tissue remodeling. [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": 11, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R7K6", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0008191 metalloendopeptidase inhibitor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0034774 secretory granule lumen", "go_biological_process": "GO:0051045 negative regulation of membrane protein ectodomain proteolysis;GO:0034097 response to cytokine;GO:0009725 response to hormone", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q99727-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BSN7-1", "uniprot_id": [ { "id": "TM204_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BSN7", "type": "external" } ], "mass": 24540.0, "length": 226, "protein_name": "Transmembrane protein 204", "gene_name": "TMEM204", "organism": "Human", "refseq_name": "transmembrane protein 204", "refseq_ac": [ { "id": "NP_001243470", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243470", "type": "external" } ], "gene_names_uniprotkb": "TMEM204; C16orf30; CLP24; PRO21434", "gene_names_refseq": "C16orf30; CLP24; TMEM204", "protein_names_uniprotkb": "Transmembrane protein 204; Claudin-like protein 24", "protein_names_refseq": "claudin-like protein 24; claudin-like protein of 24 kDa; transmembrane protein 204", "tax_id": 9606, "disease": "", "pathway": " (hsa:79652)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "10.1101/2023.09.13.557529;12975309;15206924;18446792;23481700;26154972;29557506;30484775;31154438;36581221", "class_list": "", "function": "C16ORF30 plays a role in cell adhesion and cellular permeability at adherens junctions (Kearsey et al., 2004 [PubMed 15206924]).[supplied by OMIM, Mar 2008]., [RefSeq]; Can influence paracellular permeability. Appears to be involved in cell-cell interactions through adherens., [UniProtKB]; Suggests that CLP24 is a novel, hypoxically regulated tetraspan adherens junction protein that modulates cell adhesion, paracellular permeability and angiogenesis, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 3, "reported_interactions": 0, "missing_score": 9507, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DU76;Q3KRC1;Q9H7G5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005912 adherens junction", "go_biological_process": "GO:0051145 smooth muscle cell differentiation;GO:0030947 regulation of vascular endothelial growth factor receptor signaling pathway;GO:0001945 lymph vessel development", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9BSN7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXU7-1", "uniprot_id": [ { "id": "UBP26_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXU7", "type": "external" } ], "mass": 104047.0, "length": 913, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 26", "gene_name": "USP26", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 26", "refseq_ac": [ { "id": "NP_114113", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_114113", "type": "external" } ], "gene_names_uniprotkb": "USP26", "gene_names_refseq": "SPGFX6; USP26", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 26; 3.4.19.12; Deubiquitinating enzyme 26; Ubiquitin thioesterase 26; Ubiquitin-specific-processing protease 26", "protein_names_refseq": "deubiquitinating enzyme 26; ubiquitin carboxyl-terminal hydrolase 26; ubiquitin specific protease 26; ubiquitin thioesterase 26; ubiquitin thiolesterase 26; ubiquitin-specific processing protease 26", "tax_id": 9606, "disease": "X-linked spermatogenic failure 6 (Disease Ontology:DOID:0070597)", "pathway": " (hsa:83844); (R-HSA-5689880)", "pathway_count": 2, "publication_count": 75, "publication_id_list": "10444327;10982817;11279525;11566882;11923872;12917689;12917691;14661020;15053880;15562280;15916963;15970005;16214042;16901786;16964248;17290220;17443180;17873522;17980597;17981138;18172164;18377898;18467330;18632802;18636086;18927127;19015242;19135894;19188362;19363159;19398555;19424180;19838211;19874889;19910467;20096447;20228808;20368735;20501646;21239494;21362556;21571647;21596315;21659512;21849505;21962518;22029577;22085928;22128162;22216260;23159851;23395819;23486064;23824326;23825189;24056413;24260525;24493797;24896179;25197364;25305019;25578727;28839133;30379171;33592498;33968037;34202084;35051231;35397626;35857630;38064851;38880224;39251623;39531497;7578059", "class_list": "", "function": "Acetylation-dependent deubiquitinase USP26 stabilizes BAG3 to promote breast cancer progression., [RefSeq, PubMed]; Alterations in the USP26 gene may be involved in male infertility or might increase the risk of male infertility. These patients showed 370-371insACA, 494T>C and 1423C>T causing T123-124ins, L165S and H475Y, respectively GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; An RNF12-USP26 amplification loop drives germ cell specification and is disrupted by disease-associated mutations., [RefSeq, PubMed]; Deubiquitinase regulating several biological processes through the deubiquitination of components of these processes (PubMed:20501646, PubMed:28839133). Involved in somatic cell reprogramming through the 'Lys-48'-linked deubiquitination and stabilization of CBX4 and CBX6, two components of the polycomb-repressive complex 1 (PRC1) (PubMed:28839133). Also deubiquitinates and probably stabilizes the androgen receptor (AR), regulating the androgen receptor signaling pathway (PubMed:20501646). May play a role in spermatogenesis (PubMed:34202084)., [UniProtKB, PubMed, PubMed, PubMed]; Machine learning-based classification of deubiquitinase USP26 and its cell proliferation inhibition through stabilizing KLF6 in cervical cancer., [RefSeq, PubMed]; The USP26 gene may be of importance in male reproduction. Mutations in this gene may be associated with male infertility, and may negatively affect testicular function. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases and is a deubiquitinating enzyme (DUB) with His and Cys domains. It is specifically expressed in testis tissue. Mutations in this gene have been associated with Sertoli cell-only syndrome and male infertility. [provided by RefSeq, Jul 2008]., [RefSeq]; USP26 as a hepatitis B virus-induced deubiquitinase primes hepatocellular carcinogenesis by epigenetic remodeling. Publication Status: Online-Only, [RefSeq, PubMed]; USP26 promotes anaplastic thyroid cancer progression by stabilizing TAZ. 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": 1, "reported_glycation": 0, "reported_snv": 29, "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": "B9WRT6;Q5H9H4", "ec_number_list": [ { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" } ], "go_molecular_function": "GO:0004843 cysteine-type deubiquitinase activity;GO:1990380 K48-linked deubiquitinase activity;GO:0101005 deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0036126 sperm flagellum", "go_biological_process": "GO:0006508 proteolysis;GO:0007283 spermatogenesis;GO:0016579 protein deubiquitination;GO:0031647 regulation of protein stability;GO:0000082 G1/S transition of mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q9BXU7-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BYV6-1", "uniprot_id": [ { "id": "TRI55_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BYV6", "type": "external" } ], "mass": 60466.0, "length": 548, "protein_name": "Tripartite motif-containing protein 55", "gene_name": "TRIM55", "organism": "Human", "refseq_name": "tripartite motif-containing protein 55 isoform 2", "refseq_ac": [ { "id": "NP_149047", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149047", "type": "external" } ], "gene_names_uniprotkb": "TRIM55; MURF2; RNF29", "gene_names_refseq": "MURF-2; RNF29; TRIM55; muRF2", "protein_names_uniprotkb": "Tripartite motif-containing protein 55; 2.3.2.27; MuRF-2; MuRF2; Muscle-specific RING finger protein 2; RING finger protein 29", "protein_names_refseq": "muscle specific ring finger 2; muscle-specific RING finger protein 2; ring finger protein 29; tripartite motif-containing protein 55 isoform 2; tripartite motif-containing protein 55", "tax_id": 9606, "disease": "", "pathway": " (hsa:84675)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11243782;12414993;15802564;24865491;25645385;29242379;30779550;31217245;31844290;31866377;32938616;33912179;36737649;37212463;37703582;37816088;38253038;39894887", "class_list": "", "function": "E3 ubiquitin ligase that plays an important role in regulating cardiac development and contractility, muscle growth, metabolism, and fiber-type differentiation. Acts as a critical factor that regulates cardiomyocyte size during development in concert with TRIM63 by regulating E2F1-mediated gene expression (By similarity). Plays a role in apoptosis induction in cardiomyocytes by promoting ubiquitination of the DUSP1 phosphatase. Promotes non-canonical NF-kappa-B signaling and B-cell-mediated immune responses by mediating NFKB2 'Lys-48'-linked ubiquitination and processing. In turn, NFKB2 is further processed by valosin-containing protein/VCP, an ATPase that mediates ubiquitin-dependent protein degradation by the proteasome. May play a role in preventing macrophages from producing inflammatory factors and migrating by downregulating the level of nuclear NF-kappa-B subunit RELA. Also modifies PPARG via polyubiquitination and accelerates PPARG proteasomal degradation to inhibit its activity (PubMed:36737649)., [UniProtKB, UniProtKB, PubMed, PubMed]; Genetic and functional implications of an exonic TRIM55 variant in heart failure., [RefSeq, PubMed]; SUMO-3 promotes the ubiquitin-dependent turnover of TRIM55., [RefSeq, PubMed]; TRIM55 inhibits colorectal cancer development via enhancing protein degradation of c-Myc., [RefSeq, PubMed]; The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. This protein associates transiently with microtubules, myosin, and titin during muscle sarcomere assembly. It may act as a transient adaptor and plays a regulatory role in the assembly of sarcomeres. Four alternatively spliced transcript variants encoding distinct isoforms have been described. [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": 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": "B3KRC0;B3KRJ3;Q53XX3;Q8IUD9;Q8IUE4;Q96DV2;Q96DV3;Q9BYV5", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0061630 ubiquitin protein ligase activity;GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005874 microtubule", "go_biological_process": "GO:0007165 signal transduction;GO:0045087 innate immune response;GO:1901224 positive regulation of non-canonical NF-kappaB signal transduction;GO:0070936 protein K48-linked ubiquitination", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q9BYV6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BZA5-1", "uniprot_id": [ { "id": "TXNG2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BZA5", "type": "external" } ], "mass": 14632.0, "length": 131, "protein_name": "Putative gamma-taxilin 2", "gene_name": "TXLNGY", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TXLNGY; CYorf15A; CYorf15B; TXLNG2P", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative gamma-taxilin 2; Gamma-taxilin 2 pseudogene; Taxilin gamma pseudogene, Y-linked", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "23481700;27862975;28832583", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0019905 syntaxin binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q9BZA5-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NS68-1", "uniprot_id": [ { "id": "TNR19_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NS68", "type": "external" } ], "mass": 46015.0, "length": 423, "protein_name": "Tumor necrosis factor receptor superfamily member 19", "gene_name": "TNFRSF19", "organism": "Human", "refseq_name": "tumor necrosis factor receptor superfamily member 19 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001191387", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191387", "type": "external" } ], "gene_names_uniprotkb": "TNFRSF19; PRO4333; TAJ; TROY", "gene_names_refseq": "TAJ-alpha; TAJ; TNFRSF19; TRADE; TROY", "protein_names_uniprotkb": "Tumor necrosis factor receptor superfamily member 19; TRADE; Toxicity and JNK inducer", "protein_names_refseq": "toxicity and JNK inducer; tumor necrosis factor receptor superfamily member 19 isoform 2 precursor; tumor necrosis factor receptor superfamily member 19", "tax_id": 9606, "disease": "", "pathway": " (hsa:55504)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "10.1101/2023.09.13.557529;10764796;10809768;12975309;15301860;15340161;15694321;17187358;25502872;25645385;25892735;26375851;27600516;27846572;28467828;28489076;28871256;29242379;29314611;29557506;31154438;32157095;32350084;32629176;33537174;33592498;33936100;33968037;34358453;35154160;35351523;35354542;36010968;38047807", "class_list": "", "function": "Can mediate activation of JNK and NF-kappa-B. May promote caspase-independent cell death., [UniProtKB]; Long noncoding RNA SNHG8 promotes chemoresistance in gastric cancer via binding with hnRNPA1 and stabilizing TROY expression., [RefSeq, PubMed]; Observational study of genotype prevalence. (HuGE Navigator), [RefSeq, PubMed]; TNFRSF19 within the 13q12.12 Risk Locus Functions as a Lung Cancer Suppressor by Binding Wnt3a to Inhibit Wnt/beta-Catenin Signaling., [RefSeq, PubMed]; TROY regulates melanoma growth., [RefSeq, PubMed]; TROY signals through JAK1-STAT3 to promote glioblastoma cell migration and resistance., [RefSeq, PubMed]; The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is highly expressed during embryonic development. It has been shown to interact with TRAF family members, and to activate JNK signaling pathway when overexpressed in cells. This receptor is capable of inducing apoptosis by a caspase-independent mechanism, and it is thought to play an essential role in embryonic development. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]., [RefSeq]; Troy/Tnfrsf19 marks epidermal cells that govern interfollicular epidermal renewal and cornification., [RefSeq, PubMed]; Unique molecular characteristics of NAFLD-associated liver cancer accentuate beta-catenin/TNFRSF19-mediated immune evasion., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8KA09;A8KA26;B1AM40;B1AM41;B4E2I6;Q9BXZ9;Q9BY00;Q9NZV2", "ec_number_list": [], "go_molecular_function": "GO:0005031 tumor necrosis factor receptor activity;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0046330 positive regulation of JNK cascade;GO:0006915 apoptotic process;GO:0007254 JNK cascade;GO:0043123 positive regulation of canonical NF-kappaB signal transduction", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q9NS68-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NXH8-1", "uniprot_id": [ { "id": "TOR4A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NXH8", "type": "external" } ], "mass": 46914.0, "length": 423, "protein_name": "Torsin-4A", "gene_name": "TOR4A", "organism": "Human", "refseq_name": "torsin-4A", "refseq_ac": [ { "id": "NP_060193", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060193", "type": "external" } ], "gene_names_uniprotkb": "TOR4A; C9orf167", "gene_names_refseq": "C9orf167; TOR4A", "protein_names_uniprotkb": "Torsin-4A; Torsin family 4 member A", "protein_names_refseq": "torsin family protein C9orf167; torsin-4A", "tax_id": 9606, "disease": "", "pathway": " (hsa:54863); (R-HSA-114608)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "10.1101/2023.09.13.557529;1435334;14630798;15297306;17081983;18669648;18991276;23186163;23640497;24190977;24714562;25576301;27452731;27846572;27862975;28832583;28904123;29242379;30779550;31844290;31848261;32350084;32387766;32488085;32897882;32983136;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34357683;34509645;34932366;35051231;35154160;35251023;35580925;36204885;37074911;38665916;6457647;8467233", "class_list": "", "function": "Delta and Notch-like epidermal growth factor-related receptor suppresses human glioma growth by inhibiting oncogene TOR4A., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 10, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A2BFA4", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005635 nuclear envelope;GO:0005788 endoplasmic reticulum lumen;GO:0016020 membrane;GO:0031093 platelet alpha granule lumen", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q9NXH8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NI03-1", "uniprot_id": [ { "id": "TR64B_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NI03", "type": "external" } ], "mass": 51557.0, "length": 449, "protein_name": "Tripartite motif-containing protein 64B", "gene_name": "TRIM64B", "organism": "Human", "refseq_name": "tripartite motif-containing protein 64B", "refseq_ac": [ { "id": "NP_001157869", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157869", "type": "external" } ], "gene_names_uniprotkb": "TRIM64B", "gene_names_refseq": "TRIM64B", "protein_names_uniprotkb": "Tripartite motif-containing protein 64B", "protein_names_refseq": "Putative tripartite motif-containing protein 64B; tripartite motif-containing protein 64B", "tax_id": 9606, "disease": "", "pathway": " (hsa:642446)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0045087 innate immune response;GO:0010468 regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A6NI03-1", "record_type": "protein", "filter_code": "0000000.1000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "I1YAP6-1", "uniprot_id": [ { "id": "TRI77_HUMAN", "url": "https://www.uniprot.org/uniprot/I1YAP6", "type": "external" } ], "mass": 52450.0, "length": 450, "protein_name": "Tripartite motif-containing protein 77", "gene_name": "TRIM77", "organism": "Human", "refseq_name": "tripartite motif-containing protein 77 isoform 1", "refseq_ac": [ { "id": "NP_001139634", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139634", "type": "external" } ], "gene_names_uniprotkb": "TRIM77; TRIM77P", "gene_names_refseq": "TRIM77P; TRIM77", "protein_names_uniprotkb": "Tripartite motif-containing protein 77", "protein_names_refseq": "TRIM77-isoform; putative tripartite motif-containing protein 64D; putative tripartite motif-containing protein 77; tripartite motif containing 77, pseudogene; tripartite motif-containing protein 77 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:390231)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;22144910;34932366", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0045087 innate immune response;GO:0010468 regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "I1YAP6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94811-1", "uniprot_id": [ { "id": "TPPP_HUMAN", "url": "https://www.uniprot.org/uniprot/O94811", "type": "external" } ], "mass": 23694.0, "length": 219, "protein_name": "Tubulin polymerization-promoting protein", "gene_name": "TPPP", "organism": "Human", "refseq_name": "tubulin polymerization-promoting protein", "refseq_ac": [ { "id": "NP_008961", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008961", "type": "external" } ], "gene_names_uniprotkb": "TPPP; TPPP1", "gene_names_refseq": "TPPP/p25; TPPP1; TPPP; p24; p25alpha; p25", "protein_names_uniprotkb": "Tubulin polymerization-promoting protein; 25 kDa brain-specific protein; 3.6.5.-; TPPP/p25; TPPP; p24; p25-alpha", "protein_names_refseq": "25 kDa brain-specific protein; brain specific protein p25 alpha; glycogen synthase kinase 3 (GSK3) inhibitor p24; p25-alpha; tubulin polymerization-promoting protein", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:11076)", "pathway_count": 1, "publication_count": 43, "publication_id_list": "10083737;15564385;15590652;17027006;17105200;17693641;18028908;18220336;18669648;19413330;20068231;20166139;20308065;20563614;21316364;21565174;21995432;22328514;22484033;23093407;23355470;24275569;25445539;26289831;28228285;28657654;29485866;29557506;29789417;30429286;31154438;31505170;31522887;31844290;31848261;32157095;33831707;34831132;35062349;35580925;37938771;38391951;38972607", "class_list": "", "function": "Anti-Aggregative Effect of the Antioxidant DJ-1 on the TPPP/p25-Derived Pathological Associations of Alpha-Synuclein. Publication Status: Online-Only, [RefSeq, PubMed]; HERV-W Envelope Triggers Abnormal Dopaminergic Neuron Process through DRD2/PP2A/AKT1/GSK3 for Schizophrenia Risk. Publication Status: Online-Only, [RefSeq, PubMed]; Perspective Strategies for Interventions in Parkinsonism: Remedying the Neglected Role of TPPP. Publication Status: Online-Only, [RefSeq, PubMed]; Regulator of microtubule dynamics that plays a key role in myelination by promoting elongation of the myelin sheath (PubMed:31522887). Acts as a microtubule nucleation factor in oligodendrocytes: specifically localizes to the postsynaptic Golgi apparatus region, also named Golgi outpost, and promotes microtubule nucleation, an important step for elongation of the myelin sheath (PubMed:31522887, PubMed:33831707). Required for both uniform polarized growth of distal microtubules as well as directing the branching of proximal processes (PubMed:31522887). Shows magnesium-dependent GTPase activity; the role of the GTPase activity is unclear (PubMed:21316364, PubMed:21995432). In addition to microtubule nucleation activity, also involved in microtubule bundling and stabilization of existing microtubules, thereby maintaining the integrity of the microtubule network (PubMed:17105200, PubMed:17693641, PubMed:18028908, PubMed:26289831). Regulates microtubule dynamics by promoting tubulin acetylation: acts by inhibiting the tubulin deacetylase activity of HDAC6 (PubMed:20308065, PubMed:23093407). Also regulates cell migration: phosphorylation by ROCK1 inhibits interaction with HDAC6, resulting in decreased acetylation of tubulin and increased cell motility (PubMed:23093407). Plays a role in cell proliferation by regulating the G1/S-phase transition (PubMed:23355470). Involved in astral microtubule organization and mitotic spindle orientation during early stage of mitosis; this process is regulated by phosphorylation by LIMK2 (PubMed:22328514)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; TPPP-BRD9 fusion-related gallbladder carcinomas are frequently associated with intracholecystic neoplasia, neuroendocrine carcinoma, and a distinctive small tubular-type adenocarcinoma commonly accompanied with a syringomatous pattern., [RefSeq, PubMed]; TPPP/p25 has a role in stabilization of physiological microtubular ultrastructures and 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": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 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": 13, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 10, "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": "", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0003924 GTPase activity;GO:0008017 microtubule binding;GO:0042803 protein homodimerization activity;GO:0015631 tubulin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005874 microtubule;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0046785 microtubule polymerization;GO:0051301 cell division;GO:0031334 positive regulation of protein-containing complex assembly;GO:0014003 oligodendrocyte development;GO:0032288 myelin assembly", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "O94811-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01850-1", "uniprot_id": [ { "id": "TRBC1_HUMAN", "url": "https://www.uniprot.org/uniprot/P01850", "type": "external" } ], "mass": 19769.0, "length": 176, "protein_name": "T cell receptor beta constant 1", "gene_name": "TRBC1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRBC1", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor beta constant 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-198933); (R-HSA-202424); (R-HSA-202427); (R-HSA-202430); (R-HSA-202433); (R-HSA-389948)", "pathway_count": 6, "publication_count": 166, "publication_id_list": "10499918;10671560;10698680;10716940;10746781;10747096;10790433;10811803;11048639;11237011;11265639;11358993;11390650;11489943;11513152;11556966;11607830;11752630;11807247;11827988;11857637;11858820;11861603;11884229;11955593;11955595;11955599;12213321;12473184;12483297;12485116;12588680;12660731;12796775;12893276;12938237;12947224;14510693;14514672;14719373;14970179;15034010;15040585;15084594;15122200;15125833;15136729;15145317;15155468;15187158;15304001;15358536;15371334;15489910;15489916;15534202;15541655;15541657;15580655;15607800;15778510;15781451;15800062;15851719;15864273;16014749;16056267;16091383;16129954;16339513;16356853;16356855;16364187;16380601;16461343;16551255;16612002;16737824;16754721;16893496;16904340;16928187;16978534;17045824;17047224;17057721;17072321;17135271;17237375;17337780;17363905;17468049;17496917;17548359;17652306;17728323;18031695;18037897;18055229;18173375;18209062;18234675;18593354;18759926;19149696;19167249;19359216;19592130;20346773;20452950;20730098;21154117;21241660;21543337;21800138;21841309;21877119;22396535;22426112;23302904;23524462;23580664;23695528;23929856;24305946;24600447;2530588;25493333;25703557;25716998;26284469;26300885;27791034;27862975;28165004;28265006;29557506;29863979;30522017;31313098;3860845;6336315;7479848;7531291;7542404;7565724;8178173;8520027;8550590;8601309;8650574;8798379;8824201;8995416;9115214;9252186;9285412;9314561;9362451;9382891;9687533;9700512;9730896;9846482;9850860;9990853", "class_list": "", "function": "Constant region of T cell receptor (TR) beta chain (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn, ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462, PubMed:9382891). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 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": 2, "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": "A0A0J9YYE9;A0A5B8;A6NH51", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0042105 alpha-beta T cell receptor complex;GO:0042101 T cell receptor complex;GO:0012505 endomembrane system", "go_biological_process": "GO:0046631 alpha-beta T cell activation;GO:0006955 immune response;GO:0050852 T cell receptor signaling pathway;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 16.7, "record_id": "P01850-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0CI26-1", "uniprot_id": [ { "id": "TR49C_HUMAN", "url": "https://www.uniprot.org/uniprot/P0CI26", "type": "external" } ], "mass": 52933.0, "length": 452, "protein_name": "Tripartite motif-containing protein 49C", "gene_name": "TRIM49C", "organism": "Human", "refseq_name": "tripartite motif-containing protein 49C", "refseq_ac": [ { "id": "NP_001182163", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182163", "type": "external" } ], "gene_names_uniprotkb": "TRIM49C; TRIM49L2", "gene_names_refseq": "TRIM49C; TRIM49L2", "protein_names_uniprotkb": "Tripartite motif-containing protein 49C; Tripartite motif-containing protein 49-like protein 2", "protein_names_refseq": "Tripartite motif-containing protein LOC642612; tripartite motif containing 49-like 2; tripartite motif-containing protein 43B; tripartite motif-containing protein 49-like protein 2; tripartite motif-containing protein 49C", "tax_id": 9606, "disease": "", "pathway": " (hsa:642612)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "32157095;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": 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": "A0AVR7;A0AVR9;Q6DJV1;Q9NS80", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0045087 innate immune response;GO:0010468 regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "P0CI26-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q07283-1", "uniprot_id": [ { "id": "TRHY_HUMAN", "url": "https://www.uniprot.org/uniprot/Q07283", "type": "external" } ], "mass": 253925.0, "length": 1943, "protein_name": "Trichohyalin", "gene_name": "TCHH", "organism": "Human", "refseq_name": "trichohyalin", "refseq_ac": [ { "id": "NP_009044", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009044", "type": "external" } ], "gene_names_uniprotkb": "TCHH; THH; THL; TRHY", "gene_names_refseq": "TCHH; THH; THL; TRHY; UHS3", "protein_names_uniprotkb": "Trichohyalin", "protein_names_refseq": "trichohyalin", "tax_id": 9606, "disease": "uncombable hair syndrome 3 (MONDO:MONDO:0014990)", "pathway": " (hsa:7062); (R-HSA-6809371)", "pathway_count": 2, "publication_count": 55, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11350120;11380615;11590230;12902340;15033990;15337775;15797384;15803139;16061697;16639001;17081983;17515931;17562024;17596512;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21248752;21439340;21654840;21997417;23629652;25926655;26390218;27094591;27460132;27487801;27866708;28832583;29242379;29557506;30379171;31530632;34078123;34110642;35051231;35580925;37643197;7543090;7685034;7686953;8824274;8999895;9395522;9565599", "class_list": "", "function": "Identification of MKI67, TPR , and TCHH Mutations as Prognostic Biomarkers for Patients With Defective Mismatch Repair Colon Cancer Stage II/III., [RefSeq, PubMed]; Intermediate filament-associated protein that associates in regular arrays with keratin intermediate filaments (KIF) of the inner root sheath cells of the hair follicle and the granular layer of the epidermis. It later becomes cross-linked to KIF by isodipeptide bonds. It may serve as scaffold protein, together with involucrin, in the organization of the cell envelope or even anchor the cell envelope to the KIF network. It may be involved in its own calcium-dependent postsynthetic processing during terminal differentiation., [UniProtKB]; Methylome profiling identifies TCHH methylation in CfDNA as a noninvasive marker of liver metastasis in colorectal cancer., [RefSeq, PubMed]; The difference between the twoinduced pluripotent stem cell(IPSC) clones in TCHH methylation did not have an obvious effect on its expression in 3D human epidermal equivalent, suggesting that differentiation and tissue formation may mitigate variations in the iPSC methylome., [RefSeq, PubMed]; The protein encoded by this gene forms crosslinked complexes with itself and keratin intermediate filaments to provide mechanical strength to the hair follicle inner root sheath. The encoded protein also is important for structural integrity of the filiform papillae of the tongue. Defects in this gene are a cause of uncombable hair syndrome. [provided by RefSeq, Feb 2017]., [RefSeq]; The two enzymes PADI3 and TGM3, responsible for posttranslational protein modifications, and their target structural protein TCHH are all involved in hair shaft formation., [RefSeq, PubMed]; To evaluate the relative contribution of these variants, we performed a second genome-wide scan in 709 samples from the Uyghur, an admixed population with both eastern and western Eurasian ancestries. In Uyghurs, both EDAR (rs3827760: P = 1.92 x 10(-12)) and TCHH (rs11803731: P = 1.46 x 10(-3)) are associated with hair straightness, but EDAR (OR 0.415) has a greater effect than TCHH (OR 0.575)., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 50, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5VUI3", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0046914 transition metal ion binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0001533 cornified envelope", "go_biological_process": "GO:0031424 keratinization;GO:0045109 intermediate filament organization", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q07283-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NAM6-1", "uniprot_id": [ { "id": "ZSCA4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NAM6", "type": "external" } ], "mass": 48957.0, "length": 433, "protein_name": "Zinc finger and SCAN domain-containing protein 4", "gene_name": "ZSCAN4", "organism": "Human", "refseq_name": "zinc finger and SCAN domain-containing protein 4", "refseq_ac": [ { "id": "NP_689890", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689890", "type": "external" } ], "gene_names_uniprotkb": "ZSCAN4; ZNF494", "gene_names_refseq": "ZNF494; ZSCAN4", "protein_names_uniprotkb": "Zinc finger and SCAN domain-containing protein 4; Zinc finger protein 494", "protein_names_refseq": "zinc finger and SCAN domain-containing protein 4; zinc finger protein 494", "tax_id": 9606, "disease": "", "pathway": " (hsa:201516); (R-HSA-9819196)", "pathway_count": 2, "publication_count": 18, "publication_id_list": "22209328;23934149;24278031;24840609;26360614;26403970;26951377;27062923;28459456;28459457;31630170;32507861;32668244;34267371;35402882;36074823;36841776;38153767", "class_list": "", "function": "Embryonic stem (ES) cell-specific transcription factor required to regulate ES cell pluripotency. Binds telomeres and plays a key role in genomic stability in ES cells by regulating telomere elongation. Acts as an activator of spontaneous telomere sister chromatid exchange (T-SCE) and telomere elongation in undifferentiated ES cells (By similarity)., [UniProtKB]; Low expression of ZSCAN4 predicts unfavorable outcome in urothelial carcinoma of upper urinary tract and urinary bladder. Publication Status: Online-Only, [RefSeq, PubMed]; The ZSCAN4 gene encodes a protein involved in telomere maintenance and with a key role in the critical feature of mouse embryonic stem (ES) cells, namely, defying cellular senescence and maintaining normal karyotype for many cell divisions in culture (Zalzman et al., 2010 [PubMed 20336070]).[supplied by OMIM, May 2010]., [RefSeq]; The Zscan4-Tet2 Transcription Nexus Regulates Metabolic Rewiring and Enhances Proteostasis to Promote Reprogramming., [RefSeq, PubMed]; The direct interaction between Zscan4 and Rap1 may explain how Zscan4 rapidly increases telomere length, yielding important information about the role of these proteins in telomere biology., [RefSeq, PubMed]; ZSCAN4 facilitates chromatin remodeling and promotes the cancer stem cell phenotype., [RefSeq, PubMed]; ZSCAN4 indirectly interacts with TRF1 in cancer cells. We show that ZSCAN4 plays an important role independent of telomere maintenance pathways (telomerase positive and alternative pathway) or cell lineage., [RefSeq, PubMed]; ZSCAN4-binding motif-TGCACAC is conserved and enriched in CA/TG microsatellites in both mouse and human genomes., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q3MIQ2", "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:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000781 chromosome, telomeric region", "go_biological_process": "GO:0010833 telomere maintenance via telomere lengthening;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045950 negative regulation of mitotic recombination", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q8NAM6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NKD2-1", "uniprot_id": [ { "id": "TSPY2_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NKD2", "type": "external" } ], "mass": 35100.0, "length": 308, "protein_name": "Testis-specific Y-encoded protein 2", "gene_name": "TSPY2", "organism": "Human", "refseq_name": "testis-specific Y-encoded protein 2", "refseq_ac": [ { "id": "NP_072095", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_072095", "type": "external" } ], "gene_names_uniprotkb": "TSPY2; TSPYQ1", "gene_names_refseq": "TSPY2; TSPYQ1", "protein_names_uniprotkb": "Testis-specific Y-encoded protein 2; Testis-specific Y-encoded protein Q1", "protein_names_refseq": "testis-specific Y-encoded protein 2; testis-specific Y-encoded protein Q1", "tax_id": 9606, "disease": "", "pathway": " (hsa:64591)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;29485866", "class_list": "", "function": "May be involved in sperm differentiation and proliferation., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0006334 nucleosome assembly;GO:0007506 gonadal mesoderm development", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "A6NKD2-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T6F2-1", "uniprot_id": [ { "id": "UBAP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T6F2", "type": "external" } ], "mass": 117116.0, "length": 1119, "protein_name": "Ubiquitin-associated protein 2", "gene_name": "UBAP2", "organism": "Human", "refseq_name": "ubiquitin-associated protein 2 isoform 5", "refseq_ac": [ { "id": "NP_001269459", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269459", "type": "external" } ], "gene_names_uniprotkb": "UBAP2; KIAA1491", "gene_names_refseq": "UBAP-2; UBAP2", "protein_names_uniprotkb": "Ubiquitin-associated protein 2; RNA polymerase II degradation factor UBAP2; UBAP-2", "protein_names_refseq": "AD-012 protein; RNA polymerase II degradation factor UBAP2; ubiquitin-associated protein 2 isoform 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:55833)", "pathway_count": 1, "publication_count": 111, "publication_id_list": "10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;11237011;15144186;15592455;18669648;19446021;20068231;20305658;20670673;21740066;22121020;22661428;23186163;23301498;23739027;24129315;24715725;25576301;25810538;25813380;26375851;26811146;26992070;27114449;27121050;27397612;27920218;28218747;28228285;28314751;28510447;28514659;28604694;28657654;28832583;28834231;28904123;29237092;29242379;29249144;29351928;29393594;29437277;29508533;29557506;30059200;30315122;30379171;30397120;30429286;30524438;30620550;30779550;31217245;31373491;31492838;31530632;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32574038;32870666;32897882;32938616;32938750;33214551;33298915;33912179;33936100;33968037;33981976;34019948;34087483;34357683;34725712;34846842;35051231;35132862;35138101;35254053;35289036;35318648;35513511;35561310;35580925;35633597;35705054;36010968;36241641;37340703;37541260;37848033;37938771;37962045;38665916;38838015;39302247;39531497;39534244;40136647;40307207;40596516;40914422;41350704", "class_list": "", "function": "By incorporating the information from bioinformatics and RNA expression analyses, we identified at least two of the most promising risk genes for alcohol dependence: APOER2 and UBAP2, [RefSeq, PubMed]; Novel Circular RNA CircUBAP2 Drives Tumor Progression by Regulating the miR-143/TFAP2B Axis in Prostate Cancer., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; PAICS ubiquitination recruits UBAP2 to trigger phase separation for purinosome assembly., [RefSeq, PubMed]; Recruits the ubiquitination machinery to RNA polymerase II for polyubiquitination, removal and degradation, when the transcription-coupled nucleotide excision repair (TC-NER) machinery fails to resolve DNA damage (PubMed:35633597). May promote the degradation of ANXA2 (PubMed:27121050)., [UniProtKB, PubMed, PubMed]; The protein encoded by this gene contains a UBA (ubiquitin associated) domain, which is characteristic of proteins that function in the ubiquitination pathway. This gene may show increased expression in the adrenal gland and lymphatic tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]., [RefSeq]; UBAP2 serves as a host gene for snoRNAs Review article, [RefSeq, PubMed]; UBAP2/UBAP2L regulate UV-induced ubiquitylation of RNA polymerase II and are the human orthologues of yeast Def1., [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": 86, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 86, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 86, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 133, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 0, "glyco_site_count": 89, "binding_glycan_count": 0, "secondary_ac_list": "Q2M2R4;Q5JV03;Q6PK34;Q8NC94;Q9P237", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0000932 P-body;GO:0005694 chromosome", "go_biological_process": "GO:0010468 regulation of gene expression;GO:0061484 hematopoietic stem cell homeostasis", "synthesized_glycan_count": 0, "hit_score": 20.5, "record_id": "Q5T6F2-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UXI7-1", "uniprot_id": [ { "id": "VITRN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UXI7", "type": "external" } ], "mass": 73930.0, "length": 678, "protein_name": "Vitrin", "gene_name": "VIT", "organism": "Human", "refseq_name": "vitrin isoform 2 precursor", "refseq_ac": [ { "id": "NP_001171440", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171440", "type": "external" } ], "gene_names_uniprotkb": "VIT; PRO1277", "gene_names_refseq": "VIT1; VIT", "protein_names_uniprotkb": "Vitrin", "protein_names_refseq": "vitrin isoform 2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:5212)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "10.1101/2023.09.13.557529;10830112;11237011;12975309;24715725;26992070;29557506;30429286;30459171;31844290", "class_list": "", "function": "Promotes matrix assembly and cell adhesiveness. Plays a role in spinal cord formation by regulating the proliferation and differentiation of neural stem cells., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes an extracellular matrix (ECM) protein. The protein may be associated with cell adhesion and migration. High levels of expression of the protein in specific parts of the brain suggest its likely role in neural development. [provided by RefSeq, Jun 2016]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 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": 0, "reported_glycation": 0, "reported_snv": 32, "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": "A1A526;A6NKI9;A8K7Y4;E9PF47;Q6P7T3;Q96DM8;Q96DT1;Q9UDN0", "ec_number_list": [], "go_molecular_function": "GO:0005539 glycosaminoglycan binding", "go_cellular_component": "GO:0005614 interstitial matrix;GO:0005576 extracellular region", "go_biological_process": "GO:0021510 spinal cord development;GO:0030198 extracellular matrix organization;GO:0010811 positive regulation of cell-substrate adhesion;GO:0007399 nervous system development", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q6UXI7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BU70-1", "uniprot_id": [ { "id": "TRMO_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BU70", "type": "external" } ], "mass": 48587.0, "length": 441, "protein_name": "tRNA (adenine(37)-N6)-methyltransferase", "gene_name": "TRMO", "organism": "Human", "refseq_name": "tRNA (adenine(37)-N6)-methyltransferase isoform 2", "refseq_ac": [ { "id": "NP_001317654", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317654", "type": "external" } ], "gene_names_uniprotkb": "TRMO; C9orf156; HSPC219", "gene_names_refseq": "C9orf156; HSPC219; NAP1; TRMO", "protein_names_uniprotkb": "tRNA (adenine(37)-N6)-methyltransferase; 2.1.1.-; tRNA methyltransferase O", "protein_names_refseq": "Nef (lentivirus myristoylated factor) associated protein 1; Nef associated protein 1; nef-associated protein 1; tRNA (adenine(37)-N6)-methyltransferase isoform 2; tRNA (adenine(37)-N6)-methyltransferase; thioesterase NAP1", "tax_id": 9606, "disease": "", "pathway": " (hsa:51531)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "11237011;19779022;20583170;25063302;26154972;26992070;27397612;27543614;28218747;28832583;28904123;29437277;29485866;29508533;29557506;30315122;31154438;31217245;31844290;32157095;32488085;33091337;33298915;33968037;33981976;34087483;34171305;34932366;35051231;35318648;35580925;9153233", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; S-adenosyl-L-methionine-dependent methyltransferase responsible for the addition of the methyl group in the formation of N6-methyl-N6-threonylcarbamoyladenosine at position 37 (m(6)t(6)A37) of the tRNA anticodon loop of tRNA(Ser)(GCU) (PubMed:25063302). The methyl group of m(6)t(6)A37 may improve the efficiency of the tRNA decoding ability (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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q5T113;Q86SK0;Q9NXJ7;Q9P0Q7", "ec_number_list": [ { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" } ], "go_molecular_function": "GO:0089715 tRNA (L-threonylcarbamoyladenosine(37)-C2) methyltransferase activity", "go_cellular_component": "", "go_biological_process": "GO:0030488 tRNA methylation", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q9BU70-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q969M7-1", "uniprot_id": [ { "id": "UBE2F_HUMAN", "url": "https://www.uniprot.org/uniprot/Q969M7", "type": "external" } ], "mass": 21077.0, "length": 185, "protein_name": "NEDD8-conjugating enzyme UBE2F", "gene_name": "UBE2F-SCLY; UBE2F", "organism": "Human", "refseq_name": "NEDD8-conjugating enzyme UBE2F isoform 1", "refseq_ac": [ { "id": "NP_001265234", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265234", "type": "external" } ], "gene_names_uniprotkb": "UBE2F-SCLY; UBE2F; NCE2; UBE2F", "gene_names_refseq": "NCE2; UBE2F", "protein_names_uniprotkb": "NEDD8-conjugating enzyme UBE2F; 2.3.2.34; NEDD8 carrier protein UBE2F; NEDD8 protein ligase UBE2F; NEDD8-conjugating enzyme 2; RING-type E3 NEDD8 transferase UBE2F; Ubiquitin-conjugating enzyme E2 F", "protein_names_refseq": "NEDD8 carrier protein UBE2F; NEDD8 protein ligase UBE2F; NEDD8-conjugating enzyme 2; NEDD8-conjugating enzyme UBE2F isoform 1; NEDD8-conjugating enzyme UBE2F; RING-type E3 NEDD8 transferase UBE2F; ubiquitin-conjugating enzyme E2F (putative)", "tax_id": 9606, "disease": "", "pathway": " (hsa:140739); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 151, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11062501;11069780;11237011;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22959436;23201271;23300442;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25531226;26344709;26460955;26632597;26906416;26992070;27030794;27222660;27565346;28115426;28832583;28834231;28904123;29153394;29242379;29508533;29557506;30610225;30779550;30833945;31844290;31848261;32005965;32157095;32284348;32357974;32897882;32938616;33184273;33444648;34171305;34783226;35580925;36010968;37217939;38605244;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "(Microbial infection) Following infection by HIV-1 virus, participates to HIV-1 Vif protein-mediated ubiquitination and degradation of APOBEC3G by mediating neddylation of cullin-5 (CUL5)., [UniProtKB, PubMed]; Accepts the ubiquitin-like protein NEDD8 from the UBA3-NAE1 E1 complex and catalyzes its covalent attachment to other proteins (PubMed:19250909, PubMed:23201271). Together with the E3 ubiquitin ligase RNF7/RBX2, specifically neddylates cullin-5 (CUL5) (PubMed:19250909, PubMed:23201271, PubMed:23300442). Does not neddylate CUL1, CUL2, CUL3, CUL4A or CUL4B (PubMed:19250909, PubMed:23201271). Mediates neddylation of the CUL9-RBX1 complex (PubMed:38605244)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Distinct preferences of UBC12 and UBE2F peptides for inhibiting different DCNLs, including the oncogenic DCNL1., [RefSeq, PubMed]; Induction of NEDD8-conjugating enzyme E2 UBE2F by platinum protects lung cancer cells from apoptosis and confers to platinum-insensitivity. Publication Status: Online-Only, [RefSeq, PubMed]; NEDD8-conjugating enzyme E2 UBE2F confers radiation resistance by protecting lung cancer cells from apoptosis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A8K1Z8;B4DDT9;B4DFI1;B4DMK3;B4DZU2;B8ZZG2;C9J212;H9KVB9", "ec_number_list": [ { "id": "6.2.1.45", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.45", "type": "external" }, { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "2.3.2.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.34", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "6.2.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.64", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0061654 NEDD8 conjugating enzyme activity;GO:0005524 ATP binding;GO:0019788 NEDD8 transferase activity;GO:0061631 ubiquitin conjugating enzyme activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:0043687 post-translational protein modification;GO:0045116 protein neddylation;GO:0000209 protein polyubiquitination", "synthesized_glycan_count": 0, "hit_score": 15.4, "record_id": "Q969M7-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2NL82-1", "uniprot_id": [ { "id": "TSR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2NL82", "type": "external" } ], "mass": 91810.0, "length": 804, "protein_name": "Pre-rRNA-processing protein TSR1 homolog", "gene_name": "TSR1", "organism": "Human", "refseq_name": "pre-rRNA-processing protein TSR1 homolog", "refseq_ac": [ { "id": "NP_060598", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060598", "type": "external" } ], "gene_names_uniprotkb": "TSR1; KIAA1401", "gene_names_refseq": "TSR1", "protein_names_uniprotkb": "Pre-rRNA-processing protein TSR1 homolog", "protein_names_refseq": "pre-rRNA-processing protein TSR1 homolog", "tax_id": 9606, "disease": "chronic lymphocytic leukemia (Disease Ontology:DOID:1040)", "pathway": " (hsa:55720); (R-HSA-6791226)", "pathway_count": 2, "publication_count": 125, "publication_id_list": "11237011;11922599;12068309;12150911;16037817;16043514;16738141;17081983;17189298;17353269;17412707;18065403;18438418;19106111;19332556;19564402;19584346;19801658;20038530;20056613;20068231;20531386;20798176;20805244;20819938;21036871;21063389;21097556;22072790;22190735;22195017;22424782;22544926;22916032;23439679;23481700;23482395;2388630;24424021;24550520;24715725;25418920;25469497;25525153;25576301;25645385;25969445;26154972;26237581;26375851;26811146;26929215;26992070;27600516;27846572;27862975;27920218;28063628;28228285;28510447;28514659;28832583;28860189;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30429286;30484775;30779550;30833945;31154438;31217245;31222486;31296287;31844290;31848261;31937595;31998317;32102773;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;34019948;34087483;34171305;34211107;34433824;34509645;35051231;35083852;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37217939;40914422;9482744", "class_list": "", "function": "A novel congenital cataract candidate gene TSR1 was identified by whole genome sequencing and Sanger sequencing in a Chinese congenital cataract family, [RefSeq, PubMed]; HTsr1 is involved downstream in nuclear export of the pre-40S particles., [RefSeq, PubMed]; Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Required during maturation of the 40S ribosomal subunit in the nucleolus., [UniProtKB]; This study describes the clinical characteristics of the Chinese Han population with Spontaneous Coronary Artery Dissection and identified TSR1 as a potential causal gene, which might bring about a further progress in diagnosis and treatment of the disorder., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q8WUY5;Q9NVT0;Q9P2E6", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003924 GTPase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005829 cytosol;GO:0030686 90S preribosome;GO:0005634 nucleus", "go_biological_process": "GO:0000462 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);GO:0000479 endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);GO:0042254 ribosome biogenesis", "synthesized_glycan_count": 0, "hit_score": 12.8, "record_id": "Q2NL82-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13454-1", "uniprot_id": [ { "id": "TUSC3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13454", "type": "external" } ], "mass": 39676.0, "length": 348, "protein_name": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3", "gene_name": "TUSC3", "organism": "Human", "refseq_name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3 isoform 1 precursor", "refseq_ac": [ { "id": "NP_006756", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006756", "type": "external" } ], "gene_names_uniprotkb": "TUSC3; N33", "gene_names_refseq": "D8S1992; M33; MRT22; MRT7; MagT2; N33; OST3A; SLC58A2; TUSC3", "protein_names_uniprotkb": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3; Magnesium uptake/transporter TUSC3; Oligosaccharyl transferase subunit TUSC3; Protein N33; Tumor suppressor candidate 3", "protein_names_refseq": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3 isoform 1 precursor; dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3; magnesium uptake/transporter TUSC3; oligosaccharyl transferase subunit TUSC3; oligosaccharyltransferase 3 homolog A; putative prostate cancer tumor suppressor", "tax_id": 9606, "disease": "autosomal recessive intellectual developmental disorder 7 (Disease Ontology:DOID:0081183); prostate cancer (Disease Ontology:DOID:10283); bacterial infectious disease (Disease Ontology:DOID:104)", "pathway": " (hsa:7991); (R-HSA-446203); (R-HSA-5223345); (R-HSA-9694548); (R-HSA-9918432); (R-HSA-9931295)", "pathway_count": 6, "publication_count": 141, "publication_id_list": "10.1101/2023.09.13.557529;10228156;10571941;11237011;11326272;11326338;11401429;11470266;12089159;12171918;12297987;12297989;12678917;12750860;12887896;12893276;12951058;13130483;14514716;14688233;14984739;15804357;16317064;17166836;18057121;18347014;1840603;18452889;18455129;18930737;19262752;1955075;19717468;19835842;20112406;20798515;21136679;21739581;22119785;22649030;22898188;22915798;23033978;23169667;24112972;24397554;24685145;24715725;24725410;24790029;25135935;25418920;25576301;25645385;26154972;26208004;26620797;26635246;26811146;26824658;26929215;26992070;27102039;27148795;27383988;27397612;27572267;27600516;27846572;27862975;27920218;28218747;28228285;28228593;2834401;28832583;28834231;29242379;29331515;29508533;29557506;29632046;29765039;29769354;29786170;29789417;30118680;30315122;30429286;31154438;31305264;31844290;32090352;32157095;32338281;32357974;32363391;32366695;32488085;32518941;32653021;32676595;32897882;32938616;33091337;33141586;33298915;33310888;33592498;33968037;34087483;34117209;34171305;34185709;34405274;34428449;34528721;34599882;34961524;35051231;35137520;35215835;35580925;36010968;36274132;36719382;37074911;37340703;37938771;38793607;4018271;40596516;6156677;7072193;7615546;7619062;7749638;7986008;8661104;9114041;9537412", "class_list": "glycogene", "function": "Acts as accessory component of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. Involved in N-glycosylation of STT3B-dependent substrates. Specifically required for the glycosylation of a subset of acceptor sites that are near cysteine residues; in this function seems to act redundantly with MAGT1. In its oxidized form proposed to form transient mixed disulfides with a glycoprotein substrate to facilitate access of STT3B to the unmodified acceptor site. Also has oxidoreductase-independent functions in the STT3B-containing OST complex possibly involving substrate recognition. Could indirectly play a role in Mg(2+) transport (PubMed:19717468)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Concentrations of persistent organic pollutants in maternal plasma and epigenome-wide placental DNA methylation. Publication Status: Online-Only, [RefSeq, PubMed]; Downregulation of TUSC3 promotes EMT and hepatocellular carcinoma progression through LIPC/AKT axis. Publication Status: Online-Only, [RefSeq, PubMed]; TUSC3 induces drug resistance and cellular stemness via Hedgehog signaling pathway in colorectal cancer., [RefSeq, PubMed]; TUSC3 inhibits cell proliferation and invasion in cervical squamous cell carcinoma via suppression of the AKT signalling pathway., [RefSeq, PubMed]; This gene encodes a protein that has been associated with several biological functions including cellular magnesium uptake, protein glycosylation and embryonic development. This protein localizes to the endoplasmic reticulum and acts as a component of the oligosaccharyl transferase complex which is responsible for N-linked protein glycosylation. This gene is a candidate tumor suppressor gene. Homozygous mutations in this gene are associated with autosomal recessive nonsyndromic mental retardation-7 and in the proliferation and invasiveness of several cancers including metastatic pancreatic cancer, ovarian cancer and glioblastoma multiform. [provided by RefSeq, Oct 2017]., [RefSeq]; Tumour suppressor candidate 3 inhibits biological function and increases endoplasmic reticulum stress of melanoma cells WM451 by regulating AKT/GSK3-beta/beta-catenin 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": 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": 2, "reported_glycation": 0, "reported_snv": 593, "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": "A8MSM0;D3DSP2;Q14911;Q14912;Q96FW0", "ec_number_list": [], "go_molecular_function": "GO:0015095 magnesium ion transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane;GO:0008250 oligosaccharyltransferase complex", "go_biological_process": "GO:0015693 magnesium ion transport;GO:1903830 magnesium ion transmembrane transport;GO:0050890 cognition;GO:0055085 transmembrane transport;GO:0006487 protein N-linked glycosylation", "synthesized_glycan_count": 0, "hit_score": 14.6, "record_id": "Q13454-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95847-1", "uniprot_id": [ { "id": "UCP4_HUMAN", "url": "https://www.uniprot.org/uniprot/O95847", "type": "external" } ], "mass": 36064.0, "length": 323, "protein_name": "Mitochondrial uncoupling protein 4", "gene_name": "SLC25A27", "organism": "Human", "refseq_name": "mitochondrial uncoupling protein 4 isoform 2", "refseq_ac": [ { "id": "NP_001190980", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001190980", "type": "external" } ], "gene_names_uniprotkb": "SLC25A27; PRO1566; UCP4", "gene_names_refseq": "SLC25A27; UCP4", "protein_names_uniprotkb": "Mitochondrial uncoupling protein 4; Solute carrier family 25 member 27; UCP 4", "protein_names_refseq": "UCP 4; mitochondrial uncoupling protein 4 isoform 2; mitochondrial uncoupling protein 4; uncoupling protein 4", "tax_id": 9606, "disease": "schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:9481); (R-HSA-167826)", "pathway_count": 2, "publication_count": 11, "publication_id_list": "10025957;11237011;11709078;12975309;22524567;26182433;26923023;29315581;30425186;8576230;8626410", "class_list": "", "function": "Facilitates proton transport across the inner mitochondrial membrane and may dissipate excessive proton gradient associated with oxidative and metabolic stress at neuronal synapses. Regulates glutamate-induced proton conductance in astrocytes, shifting the energy metabolism toward aerobic glycolysis and lactate transfer to neurons for ATP synthesis. Can transport chloride ions with lower efficiency. The transport mechanism remains to be elucidated., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. Transcripts of this gene are only detected in brain tissue and are specifically modulated by various environmental conditions. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]., [RefSeq]; Our results suggested DJ-1 might regulate the expression of UCP4 by oxidation of DJ-1 and partially via NF-kappaB pathway in its protective response to oxidative stress, [RefSeq, PubMed]; This study evaluated the occurrence of a variant of UCP4 in patients with frontotemporal dementia, Parkinson disease, and healthy controls., [RefSeq, PubMed]; This study found that the variability of UCP4 does affect the individual susceptibility to Late-Onset Alzheimer's Disease., [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": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "F5GWR4;Q5VTS9;Q8N518", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "1.8.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" } ], "go_molecular_function": "GO:0022857 transmembrane transporter activity;GO:0042803 protein homodimerization activity;GO:0015078 proton transmembrane transporter activity;GO:0015108 chloride transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0031966 mitochondrial membrane;GO:0043025 neuronal cell body;GO:0045177 apical part of cell", "go_biological_process": "GO:0051562 negative regulation of mitochondrial calcium ion concentration;GO:0008284 positive regulation of cell population proliferation;GO:0009409 response to cold;GO:0043066 negative regulation of apoptotic process;GO:0046324 regulation of D-glucose import", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "O95847-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z4L5-1", "uniprot_id": [ { "id": "TT21B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z4L5", "type": "external" } ], "mass": 150937.0, "length": 1316, "protein_name": "Tetratricopeptide repeat protein 21B", "gene_name": "TTC21B", "organism": "Human", "refseq_name": "tetratricopeptide repeat protein 21B", "refseq_ac": [ { "id": "NP_079029", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079029", "type": "external" } ], "gene_names_uniprotkb": "TTC21B; IFT139; KIAA1992; Nbla10696", "gene_names_refseq": "ATD4; CFAP60; FAP60; FLA17; IFT139B; IFT139; JBTS11; NPHP12; Nbla10696; SRTD4; THM1; TTC21B", "protein_names_uniprotkb": "Tetratricopeptide repeat protein 21B; Intraflagellar transport 139 homolog; TPR repeat protein 21B", "protein_names_refseq": "Nephronophthisis type12; TPR repeat protein 21B; intraflagellar transport 139 homolog; putative protein product of Nbla10696; tetratricopeptide repeat protein 21B; tetratricopeptide repeat-containing hedgehog modulator-1", "tax_id": 9606, "disease": "asphyxiating thoracic dystrophy 4 (Disease Ontology:DOID:0110088); nephronophthisis 12 (Disease Ontology:DOID:0111119); nephronophthisis (Disease Ontology:DOID:12712); cystic kidney disease (Disease Ontology:DOID:2975)", "pathway": " (hsa:79809); (R-HSA-5610787); (R-HSA-5620924)", "pathway_count": 3, "publication_count": 204, "publication_id_list": "10069812;10966113;11237011;11285270;11375483;12056414;12192414;12435627;12795688;12880961;14603322;15087129;15231740;15269286;15489852;15523559;15930098;15955805;16049494;16061793;16136078;16229832;16254602;16311594;16339192;16396903;16435301;16492809;16493421;16707575;16775004;16782012;17027958;17200122;17312020;17314406;17442700;17553904;17574030;17641202;17762891;17960137;18180368;18304522;18327258;18364699;18369462;18455992;18832070;18852297;19000668;19112494;19147001;19196978;19223390;19253336;19286674;19365551;19384852;19450523;19549984;19592253;19666503;19720863;19767740;19776033;19805633;19877275;19906846;19948480;19996169;20067783;20154143;20207148;20395968;20412786;20435895;20460306;20526327;20526328;20530210;20844016;20889716;20956384;2105456;21068128;21209331;21258341;21427764;21695114;21801010;21936775;22007132;22118932;22231273;22391300;22424782;22425360;22544926;22922713;22992454;23209152;23332756;23481700;23719536;23945166;23990561;24140113;24296415;24302888;24339784;24596149;24616010;24715725;24845016;24863049;24917297;24925320;24952464;25205765;25349261;25418920;25443296;25576301;25645385;25860617;25880248;25892735;26154972;26375851;26811146;26992070;27600516;27666822;27846572;27862975;27920218;27932497;28063628;28228285;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29493099;29557506;29632046;29769354;29786170;30001391;30315122;30379171;30410026;30429286;30524438;30779550;30833945;31092671;31154438;31217245;31530632;31844290;31848261;31937595;32157095;32265295;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34211107;34509645;34932366;35051231;35318648;35580925;35695966;36010968;36241641;36273201;36284347;36581221;37217939;38439578;8516294;8522608;9114011;9585416;9585417;9852153", "class_list": "", "function": "Biallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes. Publication Status: Online-Only, [RefSeq, PubMed]; Clinical report and genetic analysis of rare premature infant nephronophthisis caused by biallelic TTC21B variants. Review article, [RefSeq, PubMed]; Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs). Essential for retrograde trafficking of IFT-1, IFT-B and GPCRs (PubMed:27932497). Negatively modulates the SHH signal transduction (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Erratum:[J Med Genet. 2015 Dec;52(12):866. doi: 10.1136/jmg-2010-082552corr1. PMID: 26603841], [RefSeq, PubMed]; This gene encodes a member of TTC21 family, containing several tetratricopeptide repeat (TPR) domains. This protein is localized to the cilium axoneme, and may play a role in retrograde intraflagellar transport in cilia. Mutations in this gene are associated with various ciliopathies, nephronophthisis 12, and asphyxiating thoracic dystrophy 4. [provided by RefSeq, Oct 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 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": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8MUZ3;Q3LIE4;Q53T84;Q6P4A1;Q6PIF5;Q8NCN3;Q96MA4;Q9HAK8", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding", "go_cellular_component": "GO:0005929 cilium;GO:0005930 axoneme;GO:0030991 intraciliary transport particle A;GO:0097542 ciliary tip", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0060271 cilium assembly;GO:0061512 protein localization to cilium;GO:0035721 intraciliary retrograde transport;GO:1905799 regulation of intraciliary retrograde transport", "synthesized_glycan_count": 0, "hit_score": 20.7, "record_id": "Q7Z4L5-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UXZ4-1", "uniprot_id": [ { "id": "UNC5D_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UXZ4", "type": "external" } ], "mass": 105880.0, "length": 953, "protein_name": "Netrin receptor UNC5D", "gene_name": "UNC5D", "organism": "Human", "refseq_name": "netrin receptor UNC5D isoform 2", "refseq_ac": [ { "id": "NP_001309747", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309747", "type": "external" } ], "gene_names_uniprotkb": "UNC5D; KIAA1777; PRO34692; UNC5H4", "gene_names_refseq": "PRO34692; UNC5D; Unc5h4", "protein_names_uniprotkb": "Netrin receptor UNC5D; Protein unc-5 homolog 4; Protein unc-5 homolog D", "protein_names_refseq": "netrin receptor UNC5D isoform 2; netrin receptor UNC5D; netrin receptor Unc5h4; protein unc-5 homolog 4; protein unc-5 homolog D; unc-5 homolog 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:137970); (R-HSA-418886)", "pathway_count": 2, "publication_count": 18, "publication_id_list": "11237011;12810718;12975309;15302935;15574733;18402767;24519068;24691657;25123307;26235030;28754176;29393594;30632669;33078631;34087483;34171305;35051231;38235871", "class_list": "", "function": "Hypermethylated promoters of genes UNC5D and KCNA1 as potential novel diagnostic biomarkers in colorectal cancer., [RefSeq, PubMed]; Receptor for netrin required for axon guidance. Mediates axon repulsion of neuronal growth cones in the developing nervous system upon ligand binding., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Receptor for the netrin NTN4 that promotes neuronal cell survival (By similarity). Plays a role in cell-cell adhesion and cell guidance. Receptor for netrin involved in cell migration. Plays a role in axon guidance by mediating axon repulsion of neuronal growth cones in the developing nervous system upon ligand binding (By similarity). May play a role in apoptosis in response to DNA damage (PubMed:24691657). It also acts as a dependence receptor required for apoptosis induction when not associated with netrin ligand (PubMed:24519068). Mediates cell-cell adhesion via its interaction with FLRT3 on an adjacent cell (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; The authors identified a locus on chromosome 8, containing UNC5D, and demonstrated evidence of its genome-wide significance with mental composite scores. Within this locus, the joint effects of two independent single nucleotide polymorphisms had a p-value of 4.38 x 10(-9) for mental composite scores. Publication Status: Online-Only, [RefSeq, PubMed]; The expression of UNC5D is abnormal in the early stage of colorectal tumors associated with its proliferation and migration., [RefSeq, PubMed]; These results suggested that UNC5D as a novel putative metastatic suppressor gene that is commonly down-regulated by hypermethylation in PCa., [RefSeq, PubMed]; UNC5H4 amplifies p53-dependent apoptotic response., [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 38, "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": "Q8WYP7", "ec_number_list": [], "go_molecular_function": "GO:0005042 netrin receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane", "go_biological_process": "GO:0006915 apoptotic process;GO:0098609 cell-cell adhesion;GO:0007411 axon guidance", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q6UXZ4-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86TN4-1", "uniprot_id": [ { "id": "TRPT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86TN4", "type": "external" } ], "mass": 27742.0, "length": 253, "protein_name": "tRNA 2'-phosphotransferase 1", "gene_name": "TRPT1", "organism": "Human", "refseq_name": "tRNA 2'-phosphotransferase 1 isoform 1", "refseq_ac": [ { "id": "NP_001028850", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028850", "type": "external" } ], "gene_names_uniprotkb": "TRPT1", "gene_names_refseq": "TRPT1", "protein_names_uniprotkb": "tRNA 2'-phosphotransferase 1; 2.7.1.160", "protein_names_refseq": "tRNA 2'-phosphotransferase 1 isoform 1; tRNA 2'-phosphotransferase 1; tRNA splicing 2' phosphotransferase 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:83707)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "11237011;14504659;18452278;18669648;19413330;19664995;19690332;20068231;23186163;25576301;25880248;27846572;27920218;28228285;28832583;28904123;29493099;29508533;29632711;29786170;31154438;31844290;31848261;32157095;32350084;32357974;32938616;33141586;33298915;33912179;33936100;33968037;34357683;34932366;35051231;35580925;36018800;37217939;37334830", "class_list": "", "function": "ADP-ribosylation of RNA in mammalian cells is mediated by TRPT1 and multiple PARPs., [RefSeq, PubMed]; Catalyzes the last step of tRNA splicing, the transfer of the splice junction 2'-phosphate from ligated tRNA to NAD to produce ADP-ribose 1''-2'' cyclic phosphate., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; Structural and biochemical insights into the molecular mechanism of TRPT1 for nucleic acid ADP-ribosylation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A8MU17;A8MYC9;F5H2B2;Q9BSB9", "ec_number_list": [ { "id": "2.7.1.160", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.160", "type": "external" } ], "go_molecular_function": "GO:0000215 tRNA 2'-phosphotransferase activity;GO:0016740 transferase activity", "go_cellular_component": "", "go_biological_process": "GO:0006388 tRNA splicing, via endonucleolytic cleavage and ligation", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q86TN4-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y484-1", "uniprot_id": [ { "id": "WIPI4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y484", "type": "external" } ], "mass": 39868.0, "length": 360, "protein_name": "WD repeat domain phosphoinositide-interacting protein 4", "gene_name": "WDR45", "organism": "Human", "refseq_name": "WD repeat domain phosphoinositide-interacting protein 4 isoform 2", "refseq_ac": [ { "id": "NP_001025067", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025067", "type": "external" } ], "gene_names_uniprotkb": "WDR45; JM5; WDRX1; WDRXI4; WIPI4", "gene_names_refseq": "JM5; NBIA4; NBIA5; WDR45; WDRX1; WIPI-4; WIPI4", "protein_names_uniprotkb": "WD repeat domain phosphoinositide-interacting protein 4; WD repeat-containing protein 45; WIPI-4", "protein_names_refseq": "WD repeat domain phosphoinositide-interacting protein 4 isoform 2; WD repeat domain phosphoinositide-interacting protein 4; WD repeat domain, X-linked 1; WD repeat-containing protein 45; WD45 repeat protein interacting with phosphoinositides 4; neurodegeneration with brain iron accumulation 4; neurodegeneration with brain iron accumulation 5", "tax_id": 9606, "disease": "neurodegeneration with brain iron accumulation 5 (Disease Ontology:DOID:0110739)", "pathway": " (hsa:11152); (R-HSA-1632852)", "pathway_count": 2, "publication_count": 80, "publication_id_list": "11096062;11237011;11825910;15187094;15602573;16963840;17618624;18321988;18439900;19211835;19322194;19590496;19855179;19898463;20059746;20713597;20921139;21177865;21205641;21258367;21383122;21460621;21802374;21819378;22170151;22682742;23202584;23435086;23481700;23685627;23727157;23884233;24714562;24715725;24747438;24954904;25356899;25484072;25568151;25576301;25592411;25880248;26154972;26992070;27600516;27846572;27920218;28514659;28561066;28820312;28834231;28904123;29242379;29331515;29493099;29786170;31271352;31844290;31848261;32157095;32161166;32350084;32483132;32488085;32938616;33298915;33537174;33968037;33981976;34171305;34357683;35051231;35580925;36580660;36581221;36940732;37819743;37938771;39265886;7628435", "class_list": "", "function": "Component of the autophagy machinery that controls the major intracellular degradation process by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation (PubMed:23435086, PubMed:28561066). Binds phosphatidylinositol 3-phosphate (PtdIns3P) (PubMed:28561066). Activated by the STK11/AMPK signaling pathway upon starvation, WDR45 is involved in autophagosome assembly downstream of WIPI2, regulating the size of forming autophagosomes (PubMed:28561066). Together with WIPI1, promotes ATG2 (ATG2A or ATG2B)-mediated lipid transfer by enhancing ATG2-association with phosphatidylinositol 3-monophosphate (PI3P)-containing membranes (PubMed:31271352). Probably recruited to membranes through its PtdIns3P activity (PubMed:28561066)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; 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. This gene has a pseudogene at chromosome 4q31.3. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity and full-length nature of some variants have not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]; Variants in the WDR45 Gene Within the OPA-2 Locus Associate With Isolated X-Linked Optic Atrophy., [RefSeq, PubMed]; WDR45 mutation dysregulates iron homeostasis by promoting the chaperone-mediated autophagic degradation of ferritin heavy chain in an ER stress/p38 dependent mechanism., [RefSeq, PubMed]; WDR45-dependent impairment of cell cycle in fibroblasts of patients with beta propeller protein-associated neurodegeneration (BPAN)., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 10, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NGH5;B7WPI2;Q5MNZ5;Q6IBS7;Q6NT94;Q96H03", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0030674 protein-macromolecule adaptor activity;GO:0080025 phosphatidylinositol-3,5-bisphosphate binding;GO:1901981 phosphatidylinositol phosphate binding;GO:0032266 phosphatidylinositol-3-phosphate binding", "go_cellular_component": "GO:0005829 cytosol;GO:0034045 phagophore assembly site membrane;GO:0000407 phagophore assembly site", "go_biological_process": "GO:0000045 autophagosome assembly;GO:0006914 autophagy;GO:0034497 protein localization to phagophore assembly site;GO:0009267 cellular response to starvation;GO:0000422 autophagy of mitochondrion", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "Q9Y484-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6NUS8-1", "uniprot_id": [ { "id": "UD3A1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6NUS8", "type": "external" } ], "mass": 59151.0, "length": 523, "protein_name": "UDP-glycosyltransferase 3A1", "gene_name": "UGT3A1", "organism": "Human", "refseq_name": "UDP-glucuronosyltransferase 3A1 isoform 2", "refseq_ac": [ { "id": "NP_001165344", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165344", "type": "external" } ], "gene_names_uniprotkb": "UGT3A1", "gene_names_refseq": "UGT3A1", "protein_names_uniprotkb": "UDP-glycosyltransferase 3A1; 2.4.1.170; UDP-N-acetylglucosaminyltransferase 3A1; UDPGT 3A1", "protein_names_refseq": "UDP glycosyltransferase 3 family, polypeptide A1; UDP-glucuronosyltransferase 3A1 isoform 2; UDP-glucuronosyltransferase 3A1; UDPGT 3A1", "tax_id": 9606, "disease": "", "pathway": " (hsa:133688); (R-HSA-156588); (R-HSA-9749641)", "pathway_count": 3, "publication_count": 51, "publication_id_list": "10220572;10434065;11237011;11581266;12433823;12616642;1339448;13741103;14570768;15135306;16258079;16837570;16858120;16943252;17482904;1783992;18052085;18981171;19545173;19814657;19836360;20800603;22294686;22621930;22674043;25840124;27556486;28677105;29557506;3082969;31836608;32502341;3342084;34087483;3705620;37074911;4639028;5013373;5773090;5862532;6654901;6777177;6796486;6838677;7206363;7802672;8027054;8687483;9144407;931988;975718", "class_list": "glycogene;glycosyltransferase", "function": "An asparagine (Asn-391) in the UGT signature sequence of UGT3A1 is necessary for utilization of UDP-GlcNAc., [RefSeq, PubMed]; Involved in biotransformation reactions in which lipophilic substrates are conjugated with sugars to increase water solubility and enhance excretion. Such reactions are of major importance in the elimination of potentially toxic xenobiotics and endogenous compounds. It catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to the bile acid ursodeoxycholic acid (UDCA) (PubMed:18981171). UDP-N-acetylglucosamine is the preferred sugar donor, while the enzyme has low activity with UDP-glucose and UDP-galactose (PubMed:18981171, PubMed:22621930). Is inactive with UDP-xylose and UDP-glucuronic acid as sugar donors (PubMed:18981171). In addition to UDCA, it can use, to a lesser extent, 17alpha-estradiol, 17beta-estradiol, 4-nitrophenol and 1-naphtol as sugar acceptors (PubMed:18981171). Has very low activity with 4-methylumbelliferone and genistein as sugar acceptors, and has negligible activity, if any, toward cholic acid, chenodeoxycholic acid, deoxycholic acid, lithocholic acid, and hyodeoxycholic acid (PubMed:18981171, PubMed:22621930)., [UniProtKB, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; UDP glycosyltransferase 3A1 is a UDP N-acetylglucosaminyltransferase, [RefSeq, PubMed]; UDP-Glycosyltransferase 3A Metabolism of Polycyclic Aromatic Hydrocarbons: Potential Importance in Aerodigestive Tract Tissues., [RefSeq, PubMed]; UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds., [UniProtKB, UniProtKB]; UGT3A1 is involved in drug metabolism and uses UDP N-acetylglucosamine as a sugar donor, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 1, "reported_glycation": 0, "reported_snv": 825, "reported_interactions": 0, "missing_score": 9507, "biomarker_type": "", "glycan_count": 13, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "G5E961;Q8IYS9;Q8NAW4;Q96DM6", "ec_number_list": [ { "id": "2.4.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.17", "type": "external" }, { "id": "2.4.1.170", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.170", "type": "external" }, { "id": "2.4.1.185", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.185", "type": "external" } ], "go_molecular_function": "GO:0008194 UDP-glycosyltransferase activity;GO:0015020 glucuronosyltransferase activity", "go_cellular_component": "GO:0043541 UDP-N-acetylglucosamine transferase complex;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q6NUS8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000000.100.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6PHR2-1", "uniprot_id": [ { "id": "ULK3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6PHR2", "type": "external" } ], "mass": 53444.0, "length": 472, "protein_name": "Serine/threonine-protein kinase ULK3", "gene_name": "ULK3", "organism": "Human", "refseq_name": "serine/threonine-protein kinase ULK3 isoform a", "refseq_ac": [ { "id": "NP_001092906", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092906", "type": "external" } ], "gene_names_uniprotkb": "ULK3", "gene_names_refseq": "ULK3", "protein_names_uniprotkb": "Serine/threonine-protein kinase ULK3; 2.7.11.1; Unc-51-like kinase 3", "protein_names_refseq": "serine/threonine-protein kinase ULK3 isoform a; serine/threonine-protein kinase ULK3", "tax_id": 9606, "disease": "", "pathway": " (hsa:25989); (R-HSA-5632684)", "pathway_count": 2, "publication_count": 116, "publication_id_list": "10433824;10564661;10966113;11027307;11237011;11960000;12050670;12068298;12123571;12138125;12426310;12471243;14528312;14611647;15115751;15198976;15300262;16061793;16136078;16155214;16421275;16459297;16459298;16611981;16651542;16740475;16980583;17115028;17442700;17641202;18455992;18497258;18691976;18827223;18832070;19279323;19305393;19368795;19371734;19533801;19549984;19592253;19622347;19666503;19684112;19818708;19852954;19878745;19955409;19996169;20014402;20016067;20154143;20360384;20460306;20479155;20487519;20512148;20643644;20818436;20844016;20889716;20956384;21695114;21801010;21878643;22007132;22391301;22424782;22982193;23332756;23719536;23725801;23955340;24072710;24302888;24582806;24715725;24845016;24854174;24925320;25418920;25645385;25880248;26992070;28228285;28832583;28855257;28904123;29242379;29393594;29632046;29769354;30429286;30524438;31217245;31279575;31844290;32157095;32265295;32357974;32387766;32938616;33298915;33592498;33912179;33968037;34190988;34211107;34357683;34509645;35051231;35580925;36797248;9601642;9874371", "class_list": "", "function": "Conformational plasticity of the ULK3 kinase domain., [RefSeq, PubMed]; Dual function of UNC-51-like kinase 3 (Ulk3) in the Sonic hedgehog signaling pathway., [RefSeq, PubMed]; First named and identified as protein kinase of the ULK family Review article, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Serine/threonine kinase ULK3 is involved in the SHH pathway as a positive regulator of GLI proteins, [RefSeq, PubMed]; Serine/threonine protein kinase that acts as a regulator of smoothened signaling and autophagy (PubMed:19279323, PubMed:19878745, PubMed:20643644, PubMed:31279575). Acts as a positive regulator of smoothened signaling in the presence of hedgehog (DHH, IHH or SHH) ligand: autophosphorylates and mediates phosphorylation of full-length GLI2, promoting subsequent phosphorylation by CDK1 and GLI2 dissociation from SUFU and translocation to the nucleus (PubMed:19878745, PubMed:20643644, PubMed:31279575). Also phosphorylates as GLI1 and GLI3, although less efficiently (PubMed:19878745, PubMed:20643644). In the absence of hedgehog ligand, interacts with SUFU, thereby inactivating the protein kinase activity and preventing phosphorylation of GLI proteins (GLI1, GLI2 and/or GLI3) (PubMed:20643644). Also acts as a regulator of autophagy: following cellular senescence, able to induce autophagy (PubMed:19279323)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The ULK3 kinase is a determinant of keratinocyte self-renewal and tumorigenesis targeting the arginine methylome. 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": 9, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RXK3;B4DFT0;B4DRQ7;D3DW68;Q9NPN5;Q9UFS4", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005776 autophagosome;GO:0034045 phagophore assembly site membrane;GO:0000407 phagophore assembly site", "go_biological_process": "GO:0045880 positive regulation of smoothened signaling pathway;GO:0000045 autophagosome assembly;GO:0010506 regulation of autophagy;GO:0042594 response to starvation;GO:0046777 protein autophosphorylation", "synthesized_glycan_count": 0, "hit_score": 11.7, "record_id": "Q6PHR2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UPX0-1", "uniprot_id": [ { "id": "TUTLB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UPX0", "type": "external" } ], "mass": 147089.0, "length": 1349, "protein_name": "Protein turtle homolog B", "gene_name": "IGSF9B", "organism": "Human", "refseq_name": "protein turtle homolog B precursor", "refseq_ac": [ { "id": "NP_001264214", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264214", "type": "external" } ], "gene_names_uniprotkb": "IGSF9B; KIAA1030", "gene_names_refseq": "IGSF9B; LINC00947; MIR4697HG", "protein_names_uniprotkb": "Protein turtle homolog B; IgSF9B; Immunoglobulin superfamily member 9B", "protein_names_refseq": "MIR4697 host gene (non-protein coding); long intergenic non-protein coding RNA 947; protein turtle homolog B precursor; protein turtle homolog B", "tax_id": 9606, "disease": "depressive disorder (Disease Ontology:DOID:1596)", "pathway": " (hsa:22997)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;24715725;26506222;28168162;28411811;28786528;29557506;30217166;32350084;35051231;35251023;35580925;36284347;38029609;38082058;38253038", "class_list": "", "function": "LncRNA MIR4697HG Alleviates Endothelial Cell Injury and Atherosclerosis Progression in Mice via the FUS/ANXA5 Axis., [RefSeq, PubMed]; Polymorphism in IGSF9B gene is associated with schizophrenia and bipolar disorder., [RefSeq, PubMed]; The Genetic variants located in IGSF9B has the potential to modulate disease course in MS patients and may be used as disease activity biomarkers to identify patients with divergent disease courses. Publication Status: Online-Only, [RefSeq, PubMed]; The role of cell adhesion molecule IgSF9b at the inhibitory synapse and psychiatric disease. Review article, [RefSeq, PubMed]; The transcriptional level of MIR4697HG in cancerous tissues increased twofold compared with that in adjacent noncancerous tissues. MIR4697HG was differentially expressed in ovarian cancer cell lines, with the highest levels in OVCAR3 and SKOV3 cells., [RefSeq, PubMed]; Transmembrane protein which is abundantly expressed in interneurons, where it may regulate inhibitory synapse development (By similarity). May mediate homophilic cell adhesion (By similarity). Is involved in the organization and maintenance of axon initial segment (AIS) architecture, likely cooperating with PRICKLE2 to regulate ANK3/ANKG localization to AIS (By similarity)., [UniProtKB, UniProtKB, UniProtKB]", "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": 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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 33, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "G5EA26", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0098982 GABA-ergic synapse;GO:0014069 postsynaptic density;GO:0030424 axon;GO:0045211 postsynaptic membrane;GO:0043005 neuron projection", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q9UPX0-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000011001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBP6-1", "uniprot_id": [ { "id": "TRMB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBP6", "type": "external" } ], "mass": 31471.0, "length": 276, "protein_name": "tRNA (guanine-N(7)-)-methyltransferase", "gene_name": "METTL1", "organism": "Human", "refseq_name": "tRNA (guanine-N(7)-)-methyltransferase isoform a", "refseq_ac": [ { "id": "NP_005362", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005362", "type": "external" } ], "gene_names_uniprotkb": "METTL1; C12orf1", "gene_names_refseq": "C12orf1; METTL1; TRM8; TRMT8; YDL201w", "protein_names_uniprotkb": "tRNA (guanine-N(7)-)-methyltransferase; 2.1.1.-; 2.1.1.33; Methyltransferase-like protein 1; mRNA (guanine-N(7)-)-methyltransferase; miRNA (guanine-N(7)-)-methyltransferase; tRNA (guanine(46)-N(7))-methyltransferase; tRNA(m7G46)-methyltransferase", "protein_names_refseq": "D1075-like gene product; mRNA (guanine-N(7)-)-methyltransferase; methyltransferase like 1; methyltransferase-like protein 1; miRNA (guanine-N(7)-)-methyltransferase; tRNA (guanine(46)-N(7))-methyltransferase; tRNA (guanine-N(7)-)-methyltransferase isoform a; tRNA (guanine-N(7)-)-methyltransferase; tRNA(m7G46)-methyltransferase", "tax_id": 9606, "disease": "", "pathway": " (hsa:4234); (R-HSA-6782315)", "pathway_count": 2, "publication_count": 94, "publication_id_list": "10329009;10430867;10982862;11027153;11111046;11237011;12403464;15861136;15870694;15994936;16043508;16424344;17071714;18567810;19017811;19414587;20123966;20308323;20354154;20584901;21059936;21131277;22344696;22591353;22995836;23042678;23048041;23186163;23381944;23481700;23604283;24126054;24204302;24275569;24714562;24901367;25233213;25261850;25404562;25505266;25916855;26160102;26310293;26375851;26728094;26751069;26992070;27055666;28832583;28834231;28904123;29242379;29393594;30192525;31031083;31031084;31222486;31481669;31844290;31848261;32157095;32387766;32488085;32502341;32897882;32938616;32983136;33717175;33912179;33968037;33981976;34019948;34087483;34171305;34352206;34352207;34371184;35051231;35154160;35580925;3627513;36599982;36599985;36610787;37217939;37369656;37379838;38309318;38493882;38810124;38822363;38967523;9430663;9851972", "class_list": "", "function": "Catalytic component of METTL1-WDR4 methyltransferase complex that mediates the formation of N(7)-methylguanine in a subset of RNA species, such as tRNAs, mRNAs and microRNAs (miRNAs) (PubMed:12403464, PubMed:31031083, PubMed:31031084, PubMed:36599982, PubMed:36599985, PubMed:37369656, PubMed:37379838). Catalyzes the formation of N(7)-methylguanine at position 46 (m7G46) in a large subset of tRNAs that contain the 5'-RAGGU-3' motif within the variable loop (PubMed:12403464, PubMed:34352206, PubMed:34352207, PubMed:36599982, PubMed:36599985, PubMed:37369656). M7G46 interacts with C13-G22 in the D-loop to stabilize tRNA tertiary structure and protect tRNAs from decay (PubMed:36599982, PubMed:36599985). Also acts as a methyltransferase for a subset of internal N(7)-methylguanine in mRNAs (PubMed:31031084, PubMed:37379838). Internal N(7)-methylguanine methylation of mRNAs in response to stress promotes their relocalization to stress granules, thereby suppressing their translation (PubMed:31031084, PubMed:37379838). Also methylates a specific subset of miRNAs, such as let-7 (PubMed:31031083). N(7)-methylguanine methylation of let-7 miRNA promotes let-7 miRNA processing by disrupting an inhibitory secondary structure within the primary miRNA transcript (pri-miRNA) (PubMed:31031083). Acts as a regulator of embryonic stem cell self-renewal and differentiation (By similarity)., [UniProtKB, HAMAP, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; METTL1 facilitates ameloblastoma invasive growth via MAPK signaling pathway., [RefSeq, PubMed]; METTL1-mediated tRNA m[7]G methylation and translational dysfunction restricts breast cancer tumorigenesis by fueling cell cycle blockade. Publication Status: Online-Only, [RefSeq, PubMed]; METTL1/FOXM1 promotes lung adenocarcinoma progression and gefitinib resistance by inhibiting PTPN13 expression., [RefSeq, PubMed]; The m7G Methyltransferase Mettl1 Drives Cardiac Hypertrophy by Regulating SRSF9-Mediated Splicing of NFATc4., [RefSeq, PubMed]; This gene is similar in sequence to the S. cerevisiae YDL201w gene. The gene product contains a conserved S-adenosylmethionine-binding motif and is inactivated by phosphorylation. Alternative splice variants encoding different protein isoforms have been described for this gene. A pseudogene has been identified on chromosome X. [provided by RefSeq, Jul 2008]., [RefSeq]; WDR4 promotes HCC pathogenesis through N[7]-methylguanosine by regulating and interacting with METTL1., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 31, "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": "B2RBX1;H7BXF2;Q14105;Q53FS9", "ec_number_list": [ { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "2.1.1.33", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.33", "type": "external" } ], "go_molecular_function": "GO:0000049 tRNA binding;GO:0008176 tRNA (guanine(46)-N7)-methyltransferase activity;GO:0160090 internal mRNA (guanine-N7-)-methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0043527 tRNA methyltransferase complex;GO:0106143 tRNA (m7G46) methyltransferase complex", "go_biological_process": "GO:0036265 RNA (guanine-N7)-methylation;GO:0006400 tRNA modification;GO:0030488 tRNA methylation;GO:0033554 cellular response to stress;GO:0106004 tRNA (guanine-N7)-methylation", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "Q9UBP6-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P54855-1", "uniprot_id": [ { "id": "UDB15_HUMAN", "url": "https://www.uniprot.org/uniprot/P54855", "type": "external" } ], "mass": 61036.0, "length": 530, "protein_name": "UDP-glucuronosyltransferase 2B15", "gene_name": "UGT2B15", "organism": "Human", "refseq_name": "UDP-glucuronosyltransferase 2B15 precursor", "refseq_ac": [ { "id": "NP_001067", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001067", "type": "external" } ], "gene_names_uniprotkb": "UGT2B15; UGT2B8", "gene_names_refseq": "HLUG4; UDPGT 2B8; UDPGT2B15; UDPGTH3; UGT2B15; UGT2B8", "protein_names_uniprotkb": "UDP-glucuronosyltransferase 2B15; 2.4.1.17; HLUG4; UDP-glucuronosyltransferase 2B8; UDPGT 2B15; UDPGT 2B8; UDPGTh-3; UGT2B15", "protein_names_refseq": "UDP glucuronosyltransferase 2 family, member 15; UDP glucuronosyltransferase 2 family, member B8; UDP glucuronosyltransferase 2 family, polypeptide B15; UDP glycosyltransferase 2B15; UDP gycosyltransferase 2 family, member B15; UDP-glucuronosyltransferase 2B15 precursor; UDP-glucuronosyltransferase 2B15; UDP-glucuronosyltransferase 2B8; UDP-glucuronosyltransferase UGT2B15; UDP-glucuronyltransferase, family 2, beta-15; uridine diphosphate glucuronosyltransferase 2 family, member B8; uridine diphosphate glycosyltransferase 2 family, member B15", "tax_id": 9606, "disease": "", "pathway": " (hsa:7366); (R-HSA-156588); (R-HSA-9749641); (R-HSA-9753281)", "pathway_count": 4, "publication_count": 93, "publication_id_list": "10220572;10434065;10741631;11581266;11714888;12433823;12473676;12616642;1339448;13741103;14570768;15135306;15618667;16258079;16595710;16696573;16837570;16858120;16943252;17482904;17627974;1783992;17924658;18052085;18232020;18357469;18719240;19159218;19463;19545173;19836360;19842618;20190787;2116769;21666065;21712391;22294686;22349737;22406294;22674043;23288867;23682772;2573352;25840124;26049587;26067475;27556486;27862975;28218747;28228285;28677105;28832583;29242379;29557506;29632046;29671580;29789417;30066917;3082969;31154438;32086297;32176075;32472168;32660355;3342084;3395122;35580925;35626664;3705620;4639028;5013373;5773090;5862532;6654901;6777177;6796486;6838677;6950087;70646;7206363;7469630;7802672;7835232;8027054;8399210;8687483;8813074;9024171;9080;9144407;9295060;931988;975718", "class_list": "glycogene;glycosyltransferase", "function": "Coordinated Regulation of UGT2B15 Expression by Long Noncoding RNA LINC00574 and hsa-miR-129-5p in HepaRG Cells. Erratum:[Drug Metab Dispos. 2020 May;48(5):386. PMID: 32273307], [RefSeq, PubMed]; Expression of UDP Glucuronosyltransferases 2B15 and 2B17 is associated with methylation status in prostate cancer cells., [RefSeq, PubMed]; High UGT2B15 expression is associated with the pathogenesis of gastric cancer., [RefSeq, PubMed]; Identification of UDP-Glucuronosyltransferase 2B15 (UGT2B15) as a Target for IGF1 and Insulin Action. Publication Status: Online-Only, [RefSeq, PubMed]; Novel associations between the UGT polymorphisms and EEDs concentrations in patients with PCOS, supporting the relevance of genetic differences in EEDs metabolism, which might be considered as an etiology of PCOS., [RefSeq, PubMed]; This gene encodes a glycosyltransferase that is invovled in the metabolism and elimination of toxic compounts, both endogenous and of xenobiotic origin. This gene plays a role in the regulation of estrogens and androgens. This locus is present in a cluster of similar genes and pseudogenes on chromosome 4. [provided by RefSeq, Aug 2016]., [RefSeq]; UDP-glucuronosyltransferase (UGT) that catalyzes phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase the metabolite's water solubility, thereby facilitating excretion into either the urine or bile (PubMed:16595710, PubMed:18719240, PubMed:23288867, PubMed:7835232, PubMed:9295060). Essential for the elimination and detoxification of drugs, xenobiotics and endogenous compounds (PubMed:7835232). Catalyzes the glucuronidation of endogenous steroid hormones such as androgens (testosterone, androsterone) and estrogens (estradiol, epiestradiol, estriol, catechol estrogens) (PubMed:16595710, PubMed:18719240, PubMed:23288867, PubMed:7835232, PubMed:9295060). Displays glucuronidation activity toward several classes of xenobiotic substrates, including phenolic compounds (eugenol, 4-nitrophenol, 4-hydroxybiphenyl) and phenylpropanoids (naringenin, coumarins) (PubMed:7835232). Catalyzes the glucuronidation of monoterpenoid alcohols such as borneol, menthol and isomenthol, a class of natural compounds used in essential oils (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 837, "reported_interactions": 0, "missing_score": 8593, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A6NDX0;A6NNJ4;A8K054;P23765;Q9UK63", "ec_number_list": [ { "id": "2.4.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.17", "type": "external" }, { "id": "2.4.1.170", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.170", "type": "external" }, { "id": "2.4.1.185", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.185", "type": "external" } ], "go_molecular_function": "GO:0015020 glucuronosyltransferase activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0008210 estrogen metabolic process;GO:0006805 xenobiotic metabolic process;GO:0008202 steroid metabolic process", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "P54855-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15819-1", "uniprot_id": [ { "id": "UB2V2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15819", "type": "external" } ], "mass": 16363.0, "length": 145, "protein_name": "Ubiquitin-conjugating enzyme E2 variant 2", "gene_name": "UBE2V2", "organism": "Human", "refseq_name": "ubiquitin-conjugating enzyme E2 variant 2", "refseq_ac": [ { "id": "NP_003341", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003341", "type": "external" } ], "gene_names_uniprotkb": "UBE2V2; MMS2; UEV2", "gene_names_refseq": "DDVIT1; DDVit-1; EDAF-1; EDPF-1; EDPF1; MMS2; UBE2V2; UEV-2; UEV2", "protein_names_uniprotkb": "Ubiquitin-conjugating enzyme E2 variant 2; DDVit 1; EDAF-1; EDPF-1; Enterocyte differentiation-associated factor 1; Enterocyte differentiation-promoting factor 1; MMS2 homolog; Vitamin D3-inducible protein", "protein_names_refseq": "1 alpha,25-dihydroxyvitamin D3-inducible; DDVit 1; MMS2 homolog; enterocyte differentiation promoting factor; enterocyte differentiation-associated factor 1; enterocyte differentiation-associated factor EDAF-1; enterocyte differentiation-promoting factor 1; methyl methanesulfonate sensitive 2, S. cerevisiae, homolog of; ubiquitin-conjugating enzyme E2 variant 2; vitamin D3-inducible protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:7336); (R-HSA-5693565); (R-HSA-5693571); (R-HSA-5693607); (R-HSA-5696395); (R-HSA-69473); (R-HSA-8866654); (R-HSA-983168)", "pathway_count": 8, "publication_count": 297, "publication_id_list": "10089880;10526214;10550055;10562279;10572166;10724175;10734143;10757784;10766245;10802669;10859164;10866324;10959836;10973490;11007478;11025670;11062501;11080452;11114888;11139606;11141066;11237011;11278856;11301010;11350924;11376695;11390408;11390642;11473255;11493912;11511374;11571274;11573085;11604075;11702069;11740563;11893489;11927591;11934988;11955432;12023295;12077346;12080057;12152085;12186630;12231622;12364621;12447390;12485996;12509254;12545175;12578958;12607003;12607005;12646216;12665801;12697768;12773400;12791985;12792649;12832489;12890688;12897153;12947387;14517266;14560035;14561766;14562038;14576433;14734113;15064416;15177042;15189136;15190204;15201865;15215855;15215856;15220921;15224091;15224092;15279782;15451442;15468306;15571818;15574327;15590680;15707391;15723659;16030353;16061182;16093244;16148040;16150728;16153896;16307923;16327781;16360315;16377563;16427009;16439204;16439205;16491090;16530042;16595681;16600297;16651405;16849449;16868077;16874298;16885023;16914548;16954532;17000769;17108083;17130289;17290226;17466625;17466626;17470781;17525332;17525340;17553757;17575048;17726030;17848578;17928296;17948053;17965729;18001824;18001825;18006705;18046455;18077395;18171670;18316726;18359941;18397950;18443292;18614043;18644861;18662542;18719106;18805091;18923075;18971343;19001859;19028597;19056823;19092802;19117993;19176521;19203578;19203579;19208625;19234442;19261749;19351884;19352404;19357644;19410543;19419957;19452197;19489725;19505854;19661379;19713942;19723507;19782031;19851334;19874575;19940136;19940261;19941824;20016603;20023648;20061386;20154705;20233725;20351172;20368362;20876134;21052091;21203937;21240188;21263215;21282113;21293379;21325134;21329877;21335604;21396873;21554508;21659603;21680713;21777809;22021381;22021426;22024395;22081108;22179609;22231403;22234877;22325355;22373579;22508508;22529269;22589545;2261476;22635276;22661229;22661230;22792074;22908299;22977173;22980979;23038248;23045548;23306437;23333306;23345434;23352696;23468639;23505375;23727112;23751493;24236237;24662292;24667604;24807418;24979766;25030448;25113031;25122754;25154395;25170678;25512557;25538220;25558984;25659039;25818648;25841101;25936802;26042670;26086376;26151477;26210183;26216882;26344566;26350214;26711259;27569044;27597759;27798111;28832583;29393594;29557506;30626607;31154438;31217245;31844290;31848261;32157095;32265276;32488085;32502341;32659264;33214551;33734107;33968037;34019948;34357683;35154160;36172813;37755128;37938771;7559382;7700386;8422676;8625414;8692841;8944023;8991089;9130708;9168116;9199207;9259561;9380723;9430729;9488723;9512523;9668046;9699634;9705271;9705497;9716411;9771713;9826654", "class_list": "", "function": "Has no ubiquitin ligase activity on its own. The UBE2V2/UBE2N heterodimer catalyzes the synthesis of non-canonical poly-ubiquitin chains that are linked through 'Lys-63'. This type of poly-ubiquitination does not lead to protein degradation by the proteasome. Mediates transcriptional activation of target genes. Plays a role in the control of progress through the cell cycle and differentiation. Plays a role in the error-free DNA repair pathway and contributes to the survival of cells after DNA damage., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; UBE2V2 Positively Correlates With PD-L1 Expression and Confers Poor Patient Survival in Lung Adenocarcinoma., [RefSeq, PubMed]; UBE2V2 promotes metastasis by regulating EMT and predicts a poor prognosis in lung adenocarcinoma., [RefSeq, PubMed]; Ubc13-Mms2 cooperates with a family of RING E3 proteins in budding yeast membrane protein sorting. Publication Status: Online-Only, [RefSeq, PubMed]; Ubiquitin-conjugating enzyme E2 variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic activity of E2s. The protein encoded by this gene also shares homology with ubiquitin-conjugating enzyme E2 variant 1 and yeast MMS2 gene product. It may be involved in the differentiation of monocytes and enterocytes. [provided by RefSeq, Jul 2008]., [RefSeq]; Uev1A amino terminus stimulates poly-ubiquitin chain assembly and is required for NF-kappaB activation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 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_cellular_component": "GO:0031371 ubiquitin conjugating enzyme complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0070062 extracellular exosome", "go_biological_process": "GO:0016567 protein ubiquitination;GO:0000209 protein polyubiquitination;GO:0070534 protein K63-linked ubiquitination;GO:0000729 DNA double-strand break processing;GO:2000781 positive regulation of double-strand break repair", "synthesized_glycan_count": 0, "hit_score": 30.0, "record_id": "Q15819-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P55808-1", "uniprot_id": [ { "id": "XG_HUMAN", "url": "https://www.uniprot.org/uniprot/P55808", "type": "external" } ], "mass": 19723.0, "length": 180, "protein_name": "Glycoprotein Xg", "gene_name": "XG", "organism": "Human", "refseq_name": "glycoprotein Xg isoform 2 precursor", "refseq_ac": [ { "id": "NP_001135391", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135391", "type": "external" } ], "gene_names_uniprotkb": "XG; PBDX", "gene_names_refseq": "PBDX; XG", "protein_names_uniprotkb": "Glycoprotein Xg; Protein PBDX", "protein_names_refseq": "Xg blood group (pseudoautosomal boundary-divided on the X chromosome); glycoprotein Xg isoform 2 precursor; glycoprotein Xg", "tax_id": 9606, "disease": "", "pathway": " (hsa:7499)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "10688843;11237011;18789743;24132906;24715725;30061310;7533029;8054981", "class_list": "", "function": "Gene frequency in France is similar to that reported in predominantly white populations., [RefSeq, PubMed]; The present findings identify the genetic basis of the erythroid-specific Xg(a)/CD99 blood group phenotypes and reveal the molecular background of their formation., [RefSeq, PubMed]; The pseudoautosomal boundary on Xp22.33/Yp11.31 may harbor male-specific genetic variants for autism spectrum disorders., [RefSeq, PubMed]; This gene encodes the XG blood group antigen, and is located at the pseudoautosomal boundary on the short (p) arm of chromosome X. The three 5' exons reside in the pseudoautosomal region and the remaining exons within the X-specific end. A truncated copy of this gene is found on the Y chromosome at the pseudoautosomal boundary. It is transcribed, but not expected to make a Y-chromosome specific gene product. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [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": 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": "E9PCH1;Q496N8;Q496N9;Q496P0;Q71BZ5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0034109 homotypic cell-cell adhesion;GO:2000391 positive regulation of neutrophil extravasation;GO:0072683 T cell extravasation", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "P55808-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HCF6-1", "uniprot_id": [ { "id": "TRPM3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HCF6", "type": "external" } ], "mass": 197571.0, "length": 1732, "protein_name": "Transient receptor potential cation channel subfamily M member 3", "gene_name": "TRPM3", "organism": "Human", "refseq_name": "transient receptor potential cation channel subfamily M member 3 isoform k", "refseq_ac": [ { "id": "NP_001007472", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007472", "type": "external" } ], "gene_names_uniprotkb": "TRPM3; KIAA1616; LTRPC3", "gene_names_refseq": "CTRCT50; GON-2; LTRPC3; MLSN2; NEDFSS; TRPM3", "protein_names_uniprotkb": "Transient receptor potential cation channel subfamily M member 3; LTrpC-3; LTrpC3; Long transient receptor potential channel 3; MLSN2; Melastatin-2", "protein_names_refseq": "long transient receptor potential channel 3; melastatin-2; transient receptor potential cation channel subfamily M member 3 isoform k", "tax_id": 9606, "disease": "MASA syndrome (Disease Ontology:DOID:0060246); chromosome 15q13.3 microdeletion syndrome (Disease Ontology:DOID:0060394); microphthalmia (Disease Ontology:DOID:10629); cataract (Disease Ontology:DOID:83); neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures (MONDO:MONDO:0859365); cataract 50 with or without glaucoma (MONDO:MONDO:0859382)", "pathway": " (hsa:80036); (R-HSA-3295583)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "10.1101/2023.09.13.557529;11050376;11226139;11230166;11237011;11243859;11301059;12015988;12672799;12672827;1422598;14634208;15550678;15824111;20025796;20716668;21278253;24251620;24715725;25090642;25389312;25765567;25855297;26123195;30620550;31154438;31278393;31844290;32343227;32427099;32439617;32502341;33091337;33603674;34074259;34438093;35146895;36648066;36804759;38334649;38917121;39417661", "class_list": "", "function": "A Cataract-Causing Mutation in the TRPM3 Cation Channel Disrupts Calcium Dynamics in the Lens. Publication Status: Online-Only, [RefSeq, PubMed]; Constitutively active, non-selective divalent cation-conducting channel that is permeable to Ca(2+), Mn(2+), and Mg(2+), with a high permeability for Ca(2+). However, can be enhanced by increasing temperature and by ligands, including the endogenous neurosteroid pregnenolone sulfate and sphingosine-1 and suppressed by intracellular Mg(2+) (PubMed:12672799, PubMed:12672827, PubMed:32343227). Implicated in a variety of cellular processes, including insulin/peptide secretion, vascular constriction and dilation, noxious heat sensing, inflammatory and spontaneous pain sensitivity. In neurons of the dorsal root ganglia, functions as thermosensitive channel for the detection of noxious heat and spontaneous pain. Suggested to function as an ionotropic steroid receptor in beta-cell, indeed pregnenolone sulfate leads to Ca(2+) influx and enhanced insulin secretion. Mediates Zn(2+) uptake into the lumen of pancreatic beta cell secretory granules, thereby regulating insulin secretion (By similarity). Forms heteromultimeric ion channels with TRPM1 which are permeable for Ca(2+) and Zn(2+) ions (PubMed:21278253). Exists as multiple splice variants which differ significantly in their biophysical properties (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders. Publication Status: Online-Only, [RefSeq, PubMed]; Implications of TRPM3 and TRPM8 for sensory neuron sensitisation. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Novel characterization of endogenous transient receptor potential melastatin 3 ion channels from Gulf War Illness participants. Publication Status: Online-Only, [RefSeq, PubMed]; Role of novel de novo gain-of-function TRPM3 mutations in a spectrum of neurodevelopmental disorders., [RefSeq, PubMed]; TRPM3 is the first ion channel activated by sphingolipids. Erratum:[Mol Pharmacol. 2005 Apr;67(4):1382], [RefSeq, PubMed]; The divalent cation selectivity of TRPM3 channels is regulated by altenrative splicing, [RefSeq, PubMed]; The hTRPM3 gene is comprised of 24 exons and maps to chromosome 9q-21.12 and is composed of 1555 amino acids with the characteristic six-transmembrane domain of TRPs and is expressed in kidney and, at lesser levels, in brain, testis, and spinal cord, [RefSeq, PubMed]; The product of this gene belongs to the family of transient receptor potential (TRP) channels. TRP channels are cation-selective channels important for cellular calcium signaling and homeostasis. The protein encoded by this gene mediates calcium entry, and this entry is potentiated by calcium store depletion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 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": 3, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 6, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A2A3F6;A9Z1Y7;Q5VW02;Q5VW03;Q5VW04;Q5W5T7;Q86SH0;Q86SH6;Q86UL0;Q86WK1;Q86WK2;Q86WK3;Q86WK4;Q86YZ9;Q86Z00;Q86Z01;Q9H0X2", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0005262 calcium channel activity;GO:0005516 calmodulin binding;GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0031683 G-protein beta/gamma-subunit complex binding;GO:0005261 monoatomic cation channel activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0071577 zinc ion transmembrane transport;GO:0051289 protein homotetramerization;GO:0006816 calcium ion transport;GO:0098655 monoatomic cation transmembrane transport;GO:0006812 monoatomic cation transport", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q9HCF6-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P1Q0-1", "uniprot_id": [ { "id": "VPS54_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P1Q0", "type": "external" } ], "mass": 110589.0, "length": 977, "protein_name": "Vacuolar protein sorting-associated protein 54", "gene_name": "VPS54", "organism": "Human", "refseq_name": "vacuolar protein sorting-associated protein 54 isoform 2", "refseq_ac": [ { "id": "NP_001005739", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005739", "type": "external" } ], "gene_names_uniprotkb": "VPS54; HCC8", "gene_names_refseq": "HCC8; PPP1R164; SLP-8p; VPS54L; VPS54; WR; hVps54L", "protein_names_uniprotkb": "Vacuolar protein sorting-associated protein 54; Hepatocellular carcinoma protein 8; Tumor antigen HOM-HCC-8; Tumor antigen SLP-8p", "protein_names_refseq": "VPS54, GARP complex subunit; hepatocellular carcinoma protein 8; protein phosphatase 1, regulatory subunit 164; tumor antigen HOM-HCC-8; tumor antigen SLP-8p; vacuolar protein sorting 54 homolog; vacuolar protein sorting-associated protein 54 isoform 2; vacuolar protein sorting-associated protein 54", "tax_id": 9606, "disease": "amyotrophic lateral sclerosis type 1 (Disease Ontology:DOID:0060193); Werdnig-Hoffmann disease (Disease Ontology:DOID:13137); motor neuron disease (Disease Ontology:DOID:231)", "pathway": " (hsa:51542); (R-HSA-6811440)", "pathway_count": 2, "publication_count": 112, "publication_id_list": "10209123;10445031;10559959;10637310;10865125;10990452;11237011;11303027;11346801;11359012;11689439;11827983;11839770;12039048;12070132;12377769;12620188;12620189;14580338;14718928;15029241;15037235;15077113;15077114;15128430;15269279;15483056;15654769;15758030;15870108;15878329;16042553;16129887;16571679;16885419;16912714;16936697;17451557;17488291;17562788;17684057;17698061;18195106;18243103;18256213;18367545;18664496;18946081;19164740;19413330;19490898;19620288;20685960;21183348;21421921;21436057;21689688;21807881;22335553;22354037;22581368;22717455;23091056;23186163;23437303;23481700;24794632;25343031;25645385;25799061;26811146;27440922;27600516;27862975;28228285;28514659;28832583;28904123;29242379;29331515;29393594;29632711;30315122;30379171;31217245;31721635;31844290;31848261;32157095;32357974;32387766;32938616;32983136;33537174;33592498;33968037;33981976;34171305;34509645;35051231;36010968;36215666;7909812;8221884;8440258;8620540;8636227;8670882;9050864;9177194;9230071;9590177", "class_list": "", "function": "Acts as a component of the GARP complex that is involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). The GARP complex is required for the maintenance of the cycling of mannose 6-phosphate receptors between the TGN and endosomes, this cycling is necessary for proper lysosomal sorting of acid hydrolases such as CTSD (PubMed:18367545). Within the GARP complex, required to tether the complex to the TGN. Not involved in endocytic recycling (PubMed:25799061)., [UniProtKB, PubMed, PubMed]; Golgi associated retrograde protein complex, consisting of the Vps52, Vps53, and Vps54 proteins, shows significant conservation between various species but diversification and specialization result in important differences in human cells., [RefSeq, PubMed]; Missorting of cathepsin D in GARP-depleted cells results from accumulation of recycling MPRs in a population of light, small vesicles downstream of endosomes., [RefSeq, PubMed]; PMID:12039048 mostly pertains to mouse and rat but contains some general comments about the structure and function of Vps54 homolog in other species, including human., [RefSeq, PubMed]; This gene encodes for a protein that in yeast forms part of a trimeric vacuolar-protein-sorting complex that is required for retrograde transport of proteins from prevacuoles to the late Golgi compartment. As in yeast, mammalian Vps54 proteins contain a coiled-coil region and dileucine motifs. Alternative splicing results in multiple transcript variants encoding different isoforms [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5VIR5;Q86YF7;Q8N6G3;Q9NPV0;Q9NT07;Q9NUJ0", "ec_number_list": [], "go_molecular_function": "GO:0019905 syntaxin binding", "go_cellular_component": "GO:0000938 GARP complex;GO:0005739 mitochondrion;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0048708 astrocyte differentiation;GO:0010992 ubiquitin recycling;GO:0071393 cellular response to progesterone stimulus;GO:0030149 sphingolipid catabolic process;GO:0001701 in utero embryonic development", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "Q9P1Q0-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IYM9-1", "uniprot_id": [ { "id": "TRI22_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IYM9", "type": "external" } ], "mass": 56947.0, "length": 498, "protein_name": "E3 ubiquitin-protein ligase TRIM22", "gene_name": "TRIM22", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase TRIM22 isoform 2", "refseq_ac": [ { "id": "NP_001186502", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186502", "type": "external" } ], "gene_names_uniprotkb": "TRIM22; RNF94; STAF50", "gene_names_refseq": "GPSTAF50; RNF94; STAF50; TRIM22", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase TRIM22; 2.3.2.27; 50 kDa-stimulated trans-acting factor; RING finger protein 94; RING-type E3 ubiquitin transferase TRIM22; Staf-50; Tripartite motif-containing protein 22", "protein_names_refseq": "50 kDa-stimulated trans-acting factor; E3 ubiquitin-protein ligase TRIM22 isoform 2; E3 ubiquitin-protein ligase TRIM22; RING finger protein 94; RING-type E3 ubiquitin transferase TRIM22; staf-50; stimulated trans-acting factor (50 kDa); tripartite binding motif 22; tripartite motif protein TRIM22; tripartite motif-containing protein 22", "tax_id": 9606, "disease": "", "pathway": " (hsa:10346); (R-HSA-877300)", "pathway_count": 2, "publication_count": 131, "publication_id_list": "10067896;10986460;11237011;11331580;11972023;12040185;12438563;12446674;12915721;1396683;14586410;14722222;15064739;1508672;15143187;15322115;15388922;15530433;16237089;16467876;17074750;17125875;17156811;18362138;18389079;18446792;18591661;18656448;19218198;19331816;19481078;19585648;20049711;20130243;20304997;20363976;22424782;22544926;23061660;23481700;24417533;24714562;24715725;24983760;25469497;25683609;25880248;25892735;26154972;26375851;26683615;26728094;26992070;27543614;27600516;27846572;27862975;27920218;28228285;28832583;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632711;29786170;30315122;30429286;30484775;30524438;31217245;31844290;32157095;32265295;32357974;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33239784;33298915;33691108;33717175;33912179;33936100;33968037;34087483;34171305;34211107;34561969;34932366;35051231;35561310;35580925;35777501;36042495;36159777;36170453;36241641;36284347;37258577;37938771;38199981;38275298;39127340;7510216;7514165;7530745;7615558;7617032;7657660;7673114;7690989;7796299;7797467;8156998;8176225;8483949;8530158;8550631;8631301;9029102;9111318;9143706", "class_list": "", "function": "Interferon-induced E3 ubiquitin ligase that plays important roles in innate and adaptive immunity (PubMed:25683609, PubMed:35777501). Restricts the replication of many viruses including HIV-1, encephalomyocarditis virus (EMCV), hepatitis B virus (HBV), hepatitis C virus (HCV) or Zika virus (ZIKV) (PubMed:25683609, PubMed:35777501, PubMed:36042495). Mechanistically, negatively regulates HCV replication by promoting ubiquitination and subsequent degradation of viral NS5A (PubMed:25683609). Also acts by promoting the degradation of Zika virus NS1 and NS3 proteins through proteasomal degradation (PubMed:36042495). Acts as a suppressor of basal HIV-1 LTR-driven transcription by preventing Sp1 binding to the HIV-1 promoter (PubMed:26683615). Also plays a role in antiviral immunity by co-regulating together with NT5C2 the RIGI/NF-kappa-B pathway by promoting 'Lys-63'-linked ubiquitination of RIGI, while NT5C2 is responsible for 'Lys-48'-linked ubiquitination of RIGI (PubMed:36159777). Participates in adaptive immunity by suppressing the amount of MHC class II protein in a negative feedback manner in order to limit the extent of MHC class II induction (PubMed:35777501)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; TRIM22 actives PI3K/Akt/mTOR pathway to promote psoriasis through enhancing cell proliferation and inflammation and inhibiting autophagy., [RefSeq, PubMed]; TRIM22 induces cellular senescence by targeting PHLPP2 in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; TRIM22 promotes the proliferation of glioblastoma cells by activating MAPK signaling and accelerating the degradation of Raf-1., [RefSeq, PubMed]; The E3 ligase TRIM22 functions as a tumor suppressor in breast cancer by targeting CCS for proteasomal degradation to inhibit STAT3 signaling., [RefSeq, PubMed]; The E3 ligase TRIM22 restricts SARS-CoV-2 replication by promoting proteasomal degradation of NSP8., [RefSeq, PubMed]; The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to the cytoplasm and its expression is induced by interferon. The protein is involved in innate immunity against different DNA and RNA viruses. [provided by RefSeq, Oct 2021]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 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": "Q05CQ0;Q15521", "ec_number_list": [ { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.7.84", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.84", "type": "external" }, { "id": "1.8.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.4.-", "type": "external" }, { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "6.3.2.n3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.n3", "type": "external" } ], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0008270 zinc ion binding;GO:0019901 protein kinase binding;GO:0030674 protein-macromolecule adaptor activity;GO:0042802 identical protein 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:0006955 immune response;GO:0045087 innate immune response;GO:0051607 defense response to virus;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 13.2, "record_id": "Q8IYM9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43396-1", "uniprot_id": [ { "id": "TXNL1_HUMAN", "url": "https://www.uniprot.org/uniprot/O43396", "type": "external" } ], "mass": 32251.0, "length": 289, "protein_name": "Thioredoxin-like protein 1", "gene_name": "TXNL1", "organism": "Human", "refseq_name": "thioredoxin-like protein 1", "refseq_ac": [ { "id": "NP_004777", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004777", "type": "external" } ], "gene_names_uniprotkb": "TXNL1; TRP32; TXL; TXNL", "gene_names_refseq": "HEL-S-114; TRP32; TXL-1; TXNL1; TXNL; Txl", "protein_names_uniprotkb": "Thioredoxin-like protein 1; 32 kDa thioredoxin-related protein", "protein_names_refseq": "32 kDa thioredoxin-related protein; epididymis secretory protein Li 114; thioredoxin-like protein 1; thioredoxin-related 32 kDa protein; thioredoxin-related protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9352); (R-HSA-9013418); (R-HSA-9013420); (R-HSA-9013422); (R-HSA-9013424); (R-HSA-9696264); (R-HSA-9696270); (R-HSA-9696273)", "pathway_count": 8, "publication_count": 101, "publication_id_list": "10664463;10826702;11237011;11459829;11784792;11940653;11985582;12244061;12665801;12842009;14521508;14732713;15107402;15350535;15556869;15738000;16481321;17355222;17504809;18835386;18996843;19064640;19103606;19136556;19349277;20068231;20166139;20455272;20547754;20811643;21290163;21508312;21565175;22339630;23186163;23301498;23362275;24525731;24608665;24690281;24714562;25576301;25645385;25888806;26375851;26598620;26969432;26992070;27314390;27941885;28228285;28832583;28834231;28855257;28904123;29242379;29493099;29508533;29557506;29632711;29786170;30192525;30315122;30779550;30896450;31431478;31844290;31871319;32157095;32350084;32357974;32488085;32502341;32737221;32897882;32938616;32983136;33141586;33592498;33717175;33912179;33936100;33968037;34087483;34171305;34357683;34725712;34932366;35051231;35251023;35580925;36010968;36241641;37938771;38665916;40914422;8649376;9473519;9531558;9668102;9778532", "class_list": "", "function": "Active thioredoxin with a redox potential of about -250 mV., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Distinct protein expression patterns, affecting TXNL1 and HDAC2, distinguish aneuploid with poor prognosis from diploid colorectal cancers., [RefSeq, PubMed]; Results suggest that TRP32 maintains the reduced state of PRL and thus regulates the biological function of PRL., [RefSeq, PubMed]; Solution structure of the C-terminal DUF1000 domain of the human thioredoxin-like 1 protein., [RefSeq, PubMed]; TXNL1-XRCC1 is a novel regulatory pathway that has an independent role in cisplatin resistance, indicating a putative drug target for reversing cisplatin resistance in gastric cancer. GeneRIF: TXNL1 is a novel regulatory molecule that inhibits cisplatin resistance in gastric cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0015036 disulfide oxidoreductase activity;GO:0015035 protein-disulfide reductase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000502 proteasome complex", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "O43396-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00744-1", "uniprot_id": [ { "id": "WN10B_HUMAN", "url": "https://www.uniprot.org/uniprot/O00744", "type": "external" } ], "mass": 43000.0, "length": 389, "protein_name": "Protein Wnt-10b", "gene_name": "WNT10B", "organism": "Human", "refseq_name": "protein Wnt-10b precursor", "refseq_ac": [ { "id": "NP_003385", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003385", "type": "external" } ], "gene_names_uniprotkb": "WNT10B; WNT12", "gene_names_refseq": "SHFM6; STHAG8; WNT-12; WNT10B", "protein_names_uniprotkb": "Protein Wnt-10b; Protein Wnt-12", "protein_names_refseq": "WNT-10B protein; protein Wnt-10b precursor; protein Wnt-10b; wingless-type MMTV integration site family, member 10B", "tax_id": 9606, "disease": "tooth agenesis (Disease Ontology:DOID:0050591); split hand-foot malformation 6 (Disease Ontology:DOID:0090026); obesity (Disease Ontology:DOID:9970); tooth agenesis, selective, 8 (MONDO:MONDO:0014901)", "pathway": " (hsa:7480); (R-HSA-3238698); (R-HSA-373080); (R-HSA-381340)", "pathway_count": 4, "publication_count": 111, "publication_id_list": "10.1101/2023.09.13.557529;10075656;10097073;10425206;10694878;11031247;11095972;11231171;11237011;11297558;11433298;11713588;11872672;12098667;12213831;12559132;12717451;12829629;15273253;15498814;15850785;15919796;16364628;16380219;16477437;16602827;16645052;16678095;16678096;17011499;17108000;17117926;17141155;17397399;17980149;18160347;18160348;18193032;18193037;18430724;18515319;18669648;18801728;18931025;19043829;19115207;19172745;19442504;19566487;19619488;19837038;20101261;20477987;20533886;20826466;20966082;21447090;21554866;21725318;21725319;21768372;21886182;22027831;22041890;22046319;22094269;22094272;22108505;22653731;22784633;22888000;22952392;22983114;23148298;23239344;23260141;27321946;29557506;31844290;33369218;33497493;33650656;34044678;35051231;3616618;6950381;7797535;8082781;8167409;8198617;8262072;8325954;8386612;8397094;8557170;8612563;8643605;8706692;8732687;8770873;8770894;8906787;8970730;8985181;9064337;9065481;9121776;9284937;9441749;9454824;9836620", "class_list": "", "function": "FZD6 triggers Wnt-signalling driven by WNT10B(IVS1) expression and highlights new targets in T-cell acute lymphoblastic leukemia., [RefSeq, PubMed]; Functional characterization of ATF1, GREM2 AND WNT10B variants associated with tooth agenesis., [RefSeq, PubMed]; Ligand for members of the frizzled family of seven transmembrane receptors., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; LncRNA HOTAIRM1 regulates cell proliferation and the metastasis of thyroid cancer by targeting Wnt10b., [RefSeq, PubMed]; Member of the Wnt ligand gene family that encodes for secreted proteins, which activate the Wnt signaling cascade. Specifically activates canonical Wnt/beta-catenin signaling and thus triggers beta-catenin/LEF/TCF-mediated transcriptional programs. Involved in signaling networks controlling stemness, pluripotency and cell fate decisions. Acts in the immune system, mammary gland, adipose tissue, bone and skin., [UniProtKB, PubMed, PubMed, PubMed]; Possible role of WNT10B in increased proliferation and tubule formation of human umbilical vein endothelial cell cultures treated with hypoxic conditioned medium from human adipocytes., [RefSeq, PubMed]; The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It may be involved in breast cancer, and its protein signaling is likely a molecular switch that governs adipogenesis. This protein is 96% identical to the mouse Wnt10b protein at the amino acid level. This gene is clustered with another family member, WNT1, in the chromosome 12q13 region. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2R7A5;O00747;Q4VAJ4;Q4VAJ5;Q8WZ97", "ec_number_list": [], "go_molecular_function": "GO:0005109 frizzled binding;GO:0005125 cytokine activity;GO:0048018 receptor ligand activity;GO:0005102 signaling receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0043065 positive regulation of apoptotic process;GO:0071300 cellular response to retinoic acid;GO:0050821 protein stabilization;GO:0030182 neuron differentiation;GO:0060070 canonical Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "O00744-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true } ]