{ "uniprot_canonical_ac": "Q9UPV9-1", "uniprot_ac": "Q9UPV9", "uniprot_id": "TRAK1_HUMAN", "mass": { "chemical_mass": 106040.0, "monoisotopic_mass": 106040.0 }, "refseq": { "ac": "NP_001252538", "name": "trafficking kinesin-binding protein 1 isoform 4", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001252538" }, "gene_names": [ { "name": "TRAK1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9UPV9", "id": "Q9UPV9" }, { "name": "DEE68; EIEE68; MILT1; OIP106", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001252538", "id": "NP_001252538" }, { "name": "KIAA1042", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9UPV9", "id": "Q9UPV9" }, { "name": "OIP106", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9UPV9", "id": "Q9UPV9" }, { "name": "TRAK1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001252538", "id": "NP_001252538" }, { "name": "hCG_2000014", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9UPV9", "id": "Q9UPV9" } ], "protein_names": [ { "name": "Trafficking kinesin-binding protein 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9UPV9" }, { "name": "106 kDa O-GlcNAc transferase-interacting protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9UPV9" }, { "name": "OGT(O-Glc-NAc transferase)-interacting protein 106 KDa; 106 kDa O-GlcNAc transferase-interacting protein; milton homolog 1; O-linked N-acetylglucosamine transferase interacting protein 106; protein Milton; trafficking protein, kinesin binding 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036111", "id": "NP_001036111" }, { "name": "Protein Milton", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9UPV9" }, { "name": "trafficking kinesin-binding protein 1 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036111", "id": "NP_001036111" }, { "name": "trafficking kinesin-binding protein 1 isoform 4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001252538", "id": "NP_001252538" } ], "function": [ { "annotation": "Data show that the ADP-ribosylation factor 6 (Arf6)-trafficking kinesin protein 1 (trak1) promote the anterograde trafficking of mitochondria. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001036111", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036111" }, { "database": "PubMed", "id": "29992963", "url": "https://glygen.org/publication/PubMed/29992963" }, { "database": "RefSeq", "id": "NP_001252538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001252538" } ] }, { "annotation": "GRIF-1 and OIP106 have roles in protein and/or organelle transport in excitable cells in a manner analogous to glutamate receptor-interacting-protein 1", "evidence": [ { "database": "RefSeq", "id": "NP_001036111", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036111" }, { "database": "PubMed", "id": "15644324", "url": "https://glygen.org/publication/PubMed/15644324" }, { "database": "RefSeq", "id": "NP_001252538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001252538" } ] }, { "annotation": "Involved in the regulation of endosome-to-lysosome trafficking, including endocytic trafficking of EGF-EGFR complexes and GABA-A receptors (PubMed:18675823). Involved in mitochondrial motility. When O-glycosylated, abolishes mitochondrial motility. Crucial for recruiting OGT to the mitochondrial surface of neuronal processes (PubMed:24995978). TRAK1 and RHOT form an essential protein complex that links KIF5 to mitochondria for light chain-independent, anterograde transport of mitochondria (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "Q9UPV9", "url": "https://www.uniprot.org/uniprot/Q9UPV9#function" }, { "database": "PubMed", "id": "18675823", "url": "https://glygen.org/publication/PubMed/18675823" }, { "database": "UniProtKB", "id": "Q960V3", "url": "https://www.uniprot.org/uniprot/Q960V3#function" }, { "database": "PubMed", "id": "24995978", "url": "https://glygen.org/publication/PubMed/24995978" } ] }, { "annotation": "Mitochondria-adaptor TRAK1 promotes kinesin-1 driven transport in crowded environments. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001036111", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036111" }, { "database": "PubMed", "id": "32561740", "url": "https://glygen.org/publication/PubMed/32561740" }, { "database": "RefSeq", "id": "NP_001252538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001252538" } ] }, { "annotation": "Recurrent TRAK1::RAF1 Fusions in pediatric low-grade gliomas.", "evidence": [ { "database": "RefSeq", "id": "NP_001036111", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036111" }, { "database": "PubMed", "id": "37399073", "url": "https://glygen.org/publication/PubMed/37399073" }, { "database": "RefSeq", "id": "NP_001252538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001252538" } ] }, { "annotation": "TRAK1-Mediated Abnormality of Mitochondrial Fission Increases Seizure Susceptibility in Temporal Lobe Epilepsy.", "evidence": [ { "database": "RefSeq", "id": "NP_001036111", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036111" }, { "database": "PubMed", "id": "33119838", "url": "https://glygen.org/publication/PubMed/33119838" }, { "database": "RefSeq", "id": "NP_001252538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001252538" } ] }, { "annotation": "The findings uncover a novel function of Trak1 as a regulator of mitochondrial fusion and provide evidence linking dysregulated mitochondrial dynamics to hypertonia pathogenesis.", "evidence": [ { "database": "RefSeq", "id": "NP_001036111", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036111" }, { "database": "PubMed", "id": "28924745", "url": "https://glygen.org/publication/PubMed/28924745" }, { "database": "RefSeq", "id": "NP_001252538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001252538" } ] } ], "disease": [ { "disease_id": "DOID:0112204", "recommended_name": { "id": "DOID:0112204", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112204", "name": "developmental and epileptic encephalopathy 68", "description": "A developmental and epileptic encephalopathy characterized by progressive development of seizures starting in infancy, developmental delay, axial hypotonia, spasticity of the limbs, clonus, and cortical atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TRAK1 gene on chromosome 3p22.1." }, "synonyms": [ { "id": "DOID:0112204", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112204", "name": "DEE68", "description": "" }, { "id": "DOID:0112204", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112204", "name": "early infantile epileptic encephalopathy 68", "description": "" }, { "id": "MONDO:0032598", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032598", "name": "developmental and epileptic encephalopathy, 68", "description": "" }, { "id": "MONDO:0032598", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032598", "name": "DEE68", "description": "" }, { "id": "MONDO:0032598", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032598", "name": "EIEE68", "description": "" }, { "id": "MONDO:0032598", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032598", "name": "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68", "description": "" }, { "id": "MONDO:0032598", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032598", "name": "developmental and epileptic encephalopathy 68", "description": "" }, { "id": "MONDO:0032598", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032598", "name": "epileptic encephalopathy, early infantile, 68", "description": "" }, { "id": "MIM:618201", "resource": "MIM", "url": "https://www.omim.org/entry/618201", "name": "Developmental and epileptic encephalopathy 68", "description": "Developmental and epileptic encephalopathy 68" } ], "evidence": [ { "id": "618201", "database": "MIM", "url": "https://www.omim.org/entry/618201" } ] } ], "snv": [ { "evidence": [ { "id": "rs751563636", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751563636" }, { "id": "rs751563636", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751563636" }, { "id": "rs751563636", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751563636" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 830, "end_pos": 830, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SES->NES); o-glyco-site-loss (S->N).", "chr_id": "3", "chr_pos": "42223364", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S830", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs905816933", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs905816933" }, { "id": "rs905816933", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs905816933#frequency_tab" }, { "id": "rs905816933", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs905816933" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 112, "end_pos": 112, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NDI->NDT).", "chr_id": "3", "chr_pos": "42176862", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I112", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755917063", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755917063" }, { "id": "rs755917063", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755917063" }, { "id": "rs755917063", "database": "gnomAD", "url": 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"Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DIT->NIT).", "chr_id": "3", "chr_pos": "42200984", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D395", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs769813265", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769813265" }, { "id": "rs769813265", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769813265" }, { "id": "rs769813265", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769813265#frequency_tab" }, { "id": "rs769813265", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769813265" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 410, "end_pos": 410, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NIN->NIS).", "chr_id": "3", "chr_pos": "42200856", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N410", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1334054713", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1334054713" }, { "id": "rs1334054713", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1334054713" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 447, "end_pos": 447, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->C).", "chr_id": "3", "chr_pos": "42202660", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S447", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1366699138", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1366699138" }, { "id": "rs1366699138", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1366699138#frequency_tab" }, { "id": "rs1366699138", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1366699138" } ], "glycoeffect": [ "n-glyco-sequon-gain", "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 463, "end_pos": 463, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TNS->NNS).", "chr_id": "3", "chr_pos": "42201015", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T463", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9UPV9", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9UPV9" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 636, "end_pos": 636, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (HIS->NIS).", "chr_id": "3", "chr_pos": "42209928", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "H636", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs745409830", 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"https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": 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}, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "Q9UPV9", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9UPV9" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9UPV9" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "Q9UPV9", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9UPV9" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UPV9", "url": "https://www.uniprot.org/uniprot/Q9UPV9" } ], "common_name": "Human" } ], "gene": [ { "name": "TRAK1", "url": "https://www.uniprot.org/uniprot/Q9UPV9", "locus": { "chromosome": "3", "start_pos": 42225890, "end_pos": 42013802, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000182606", "url": "https://www.ensembl.org/id/ENSG00000182606" } ] } } ], "crossref": [ { "id": "ENSG00000182606", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000182606", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "Q9UPV9", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9UPV9", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "TRAK1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRAK1", "database": "GeneCards", "categories": [ "Organism-specific", "Gene Annotation" ] }, { "id": "22906", "url": "https://www.ncbi.nlm.nih.gov/gene/22906", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "29947", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=29947", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "Q9UPV9", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q9UPV9*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR006933", "url": "https://www.ebi.ac.uk/interpro/entry/IPR006933", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR022154", "url": "https://www.ebi.ac.uk/interpro/entry/IPR022154", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:22906", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:22906", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "608112", "url": "http://www.omim.org/entry/608112", "database": "MIM", "categories": [ "Other" ] }, { "id": "618201", "url": "http://www.omim.org/entry/618201", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_Q9UPV9", "url": "https://www.nextprot.org/entry/NX_Q9UPV9", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "Q9UPV9", "url": "https://oglcnac.org/atlas/detail/Q9UPV9", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "Q9UPV9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UPV9", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "RRTFSYE", "url": "https://omabrowser.org/oma/group/RRTFSYE/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2909788at2759", "url": "http://www.orthodb.org/?query=2909788at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR15751", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15751", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR15751:SF11", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15751:SF11", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF04849", "url": "http://pfam.xfam.org/family/PF04849", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF12448", "url": "http://pfam.xfam.org/family/PF12448", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q9UPV9", "url": "https://pharos.nih.gov/targets/Q9UPV9", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q9UPV9", "url": "http://purl.obolibrary.org/obo/PR_Q9UPV9", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-6802952", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802952", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9013419", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013419", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9013425", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013425", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001036111", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036111", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A087X0N0", "url": "https://www.uniprot.org/uniprot/A0A087X0N0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087X0N0-1", "url": "https://www.uniprot.org/uniprot/A0A087X0N0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0D9SFL5", "url": "https://www.uniprot.org/uniprot/A0A0D9SFL5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0D9SFL5-1", "url": "https://www.uniprot.org/uniprot/A0A0D9SFL5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0D9SGH2", "url": "https://www.uniprot.org/uniprot/A0A0D9SGH2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0D9SGH2-1", "url": "https://www.uniprot.org/uniprot/A0A0D9SGH2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A5F9ZH95", "url": "https://www.uniprot.org/uniprot/A0A5F9ZH95", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A5F9ZH95-1", "url": "https://www.uniprot.org/uniprot/A0A5F9ZH95-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A5F9ZI06", "url": "https://www.uniprot.org/uniprot/A0A5F9ZI06", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A5F9ZI06-1", "url": "https://www.uniprot.org/uniprot/A0A5F9ZI06-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JC32", "url": "https://www.uniprot.org/uniprot/C9JC32", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JC32-1", "url": "https://www.uniprot.org/uniprot/C9JC32-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WDH2", "url": "https://www.uniprot.org/uniprot/F8WDH2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WDH2-1", "url": "https://www.uniprot.org/uniprot/F8WDH2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C3T3", "url": "https://www.uniprot.org/uniprot/H7C3T3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C3T3-1", "url": "https://www.uniprot.org/uniprot/H7C3T3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9UPV9", "url": "https://www.uniprot.org/uniprot/Q9UPV9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9UPV9-1", "url": "https://www.uniprot.org/uniprot/Q9UPV9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9UPV9-2", "url": "https://www.uniprot.org/uniprot/Q9UPV9-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9UPV9-3", "url": "https://www.uniprot.org/uniprot/Q9UPV9-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MALVFQFGQPVRAQPLPGLCHGKLIRTNACDVCNSTDLPEVEIISLLEEQLPHYKLRADTIYGYDHDDWLHTPLISPDANIDLTTEQIEETLKYFLLCAERVGQMTKTYNDIDAVTRLLEEKERDLELAARIGQSLLKKNKTLTERNELLEEQVEHIREEVSQLRHELSMKDELLQFYTSAAEESEPESVCSTPLKRNESSSSVQNYFHLDSLQKKLKDLEEENVVLRSEASQLKTETITYEEKEQQLVNDCVKELRDANVQIASISEELAKKTEDAARQQEEITHLLSQIVDLQKKAKACAVENEELVQHLGAAKDAQRQLTAELRELEDKYAECMEMLHEAQEELKNLRNKTMPNTTSRRYHSLGLFPMDSLAAEIEGTMRKELQLEEAESPDITHQKRVFETVRNINQVVKQRSLTPSPMNIPGSNQSSAMNSLLSSCVSTPRSSFYGSDIGNVVLDNKTNSIILETEAADLGNDERSKKPGTPGTPGSHDLETALRRLSLRRENYLSERRFFEEEQERKLQELAEKGELRSGSLTPTESIMSLGTHSRFSEFTGFSGMSFSSRSYLPEKLQIVKPLEGSATLHHWQQLAQPHLGGILDPRPGVVTKGFRTLDVDLDEVYCLNDFEEDDTGDHISLPRLATSTPVQHPETSAHHPGKCMSQTNSTFTFTTCRILHPSDELTRVTPSLNSAPTPACGSTSHLKSTPVATPCTPRRLSLAESFTNTRESTTTMSTSLGLVWLLKERGISAAVYDPQSWDRAGRGSLLHSYTPKMAVIPSTPPNSPMQTPTSSPPSFEFKCTSPPYDNFLASKPASSILREVREKNVRSSESQTDVSVSNLNLVDKVRRFGVAKVVNSGRAHVPTLTEEQGPLLCGPPGPAPALVPRGLVPEGLPLRCPTVTSAIGGLQLNSGIRRNRSFPTMVGSSMQMKAPVTLTSGILMGAKLSKQTSLR", "length": 953, "header": "sp|Q9UPV9-1|TRAK1_HUMAN Isoform 1 of Trafficking kinesin-binding protein 1 OS=Homo sapiens OX=9606 GN=TRAK1 PE=1 SV=1 CANONICAL=Q9UPV9-1" }, "isoforms": [ { "isoform_ac": "A0A087X0N0-1", "url": "", "sequence": { "sequence": "MQKFIEADYYELDWYYEECSDVLCAERVGQMTKTYNDIDAVTRLLEEKERDLELAARIGQSLLKKNKTLTERNELLEEQVEHIREEVSQLRHELSMKDELLQFYTSAAEESEPESVCSTPLKRNESSSSVQNYFHLDSLQKKLKDLEEENVVLRSEASQLKTETITYEEKEQQLVNDCVKELRDANVQIASISEELAKKTEDAARQQEEITHLLSQIVDLQKKAKACAVENEELVQHLGAAKDAQRQLTAELRELEDKYAECMEMLHEAQEELKNLRNKTMPNTTSRRYHSLGLFPMDSLAAEIEGTMRKELQLEEAESPDITHQKRVFETVRNINQVVKQRSLTPSPMNIPGSNQSSAMNSLLSSCVSTPRSSFYGSDIGNVVLDNKTNSIILETEAADLGNDERSKKPGTPGTPGSHDLETALRRLSLRRENYLSERRFFEEEQERKLQELAEKGELRSGSLTPTESIMSLGTHSRFSEFTGFSGMSFSSRSYLPEKLQIVKPLEGSATLHHWQQLAQPHLGGILDPRPGVVTKGFRTLDVDLDEVYCLNDFEEDDTGDHISLPRLATSTPVQHPETSGERSQARVTVSGSRSYPSRPQASPEEMQEPPAATEEEEEEEEEEGSGEGTTISPVNLAPFPEAEFWAILTSVPGTIRSGSLSVASARLCG", "length": 670, "header": "tr|A0A087X0N0-1|TRAK1_HUMAN Computationally mapped isoform of Trafficking kinesin-binding protein 1 OS=Homo sapiens OX=9606 GN=TRAK1 PE=1 SV=1 CANONICAL=Q9UPV9-1" }, "locus": { "chromosome": "3", "start_pos": 42210254, "end_pos": 42149536, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000613405.4", "url": "https://www.ensembl.org/id/ENST00000613405.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000483516.1", "url": "https://www.ensembl.org/id/ENSP00000483516.1" } ] } }, { "isoform_ac": "A0A0D9SFL5-1", "url": "", "sequence": { "sequence": "MTKTYNDIDAVTRLLEEKERDLELAARIGQSLLKKNKTLTERNELLEEQVEHIREEVSQLRHELSMKDELLQFYTSAAEESEPESVCSTPLKRNESSSSVQNYFHLDSLQKKLKDLEEENVVLRSEASQLKTETITYEEKEQQLVNDCVKELRDANVQIASISEELAKKTEDAARQQEEITHLLSQIVDLQKKAKACAVENEELVQHLGAAKDAQRQLTAELRELEDKYAECMEMLHEAQEELKNLRNKTMPNTTSRRYHSLGLFPMDSLAAEIEGTMRKELQLEEAESPDITHQKRVFETVRNINQVVKQRSLTPSPMNIPGSNQSSAMNSLLSSCVSTPRSSFYGSDIGNVVLDNKTNSIILETEAADLGNDERSKKPGTPGTPGSHDLETALRRLSLRRENYLSERRFFEEEQERKLQELAEKGELRSGSLTPTESIMSLGTHSRFSEFTGFSGMSFSSRSYLPEKLQIVKPLEGSATLHHWQQLAQPHLGGILDPRPGVVTKGFRTLDVDLDEVYCLNDFEEDDTGDHISLPRLATSTPVQHPETSAHHPGKCMSQTNSTFTFTTCRILHPSDELTRVTPSLNSAPTPACGSTSHLKSTPVATPCTPRRLSLAESFTNTRESTTTMSTSLGLVWLLKERGISAAVYDPQSWDRAGRGSLLHSYTPKMAVIPSTPPNSPMQTPTSSPPSFEFKCTSPPYDNFLASKPASSILREVREKNVRSSESQTDVSVSNLNLVDKVRRFGVAKVVNSGRAHVPTLTEEQGPLLCGPPGPAPALVPRGLVPEGLPLRCPTVTSAIGGLQLNSGIRRNRSFPTMVGSSMQMKAPVTLTSGILMGAKLSKQTSLR", "length": 849, "header": "tr|A0A0D9SFL5-1|A0A0D9SFL5_HUMAN Computationally mapped isoform of Trafficking kinesin protein 1 OS=Homo sapiens OX=9606 GN=TRAK1 PE=1 SV=1 CANONICAL=Q9UPV9-1" }, "locus": { "chromosome": "3", "start_pos": 42223734, "end_pos": 42176840, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000487159.5", "url": "https://www.ensembl.org/id/ENST00000487159.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000486713.1", "url": "https://www.ensembl.org/id/ENSP00000486713.1" } ] } }, { "isoform_ac": "A0A0D9SGH2-1", "url": "", "sequence": { "sequence": "MTKTYNDIDAVTRLLEEKERDLELAARIGQSLLKKNKTLTERNELLEEQVEHIREEVSQLRHELSMKDELLQFYTSAAEESEPESVCSTPLKRNESSSSVQNYFHLDSLQKKLKDLEEENVVLRSEASQLKTETITYEEKEQQLVNDCVKELRDANVQIASISEELAKKTEDAARQQEEITHLLSQIVDLQKKAKACAVENEELVQHLGAAKDAQRQLTAELRELEDKYAECMEMLHEAQEELKNLRNKTMPNTTSRRYHSLGLFPMDSLAAEIEGTMRKELQLEEAESPDITHQKRVFETVRNINQVVKQRSLTPSPMNIPGSNQSSAMNSLLSSCVSTPRSSFYGSDIGNVVLDNKTNSIILETEAADLGNDERSKKPGTPGTPGSHDLETALRRLSLRRENYLSERRFFEEEQERKLQELAEKGELRSGSLTPTESIMSLGTHSRFSEFTGFSGMSFSSRSYLPEKLQIVKPLEGDHAGPRPLSVLLGDSLWSLIHLRKAGHLCHAYSFFFRDSHPRCWFEFL", "length": 526, "header": "tr|A0A0D9SGH2-1|A0A0D9SGH2_HUMAN Computationally mapped isoform of Trafficking kinesin protein 1 OS=Homo sapiens OX=9606 GN=TRAK1 PE=1 SV=1 CANONICAL=Q9UPV9-1" }, "locus": { "chromosome": "3", "start_pos": 42202898, "end_pos": 42176840, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000484786.5", "url": "https://www.ensembl.org/id/ENST00000484786.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000487488.1", "url": "https://www.ensembl.org/id/ENSP00000487488.1" } ] } }, { "isoform_ac": "A0A5F9ZH95-1", "url": "", "sequence": { "sequence": "MTKTYNDIDAVTRLLEEKERDLELAARIGQSLLKKNKTLTERNELLEEQVEHIREEVSQLRHELSMKDELLQFYTSAAEESEPESVCSTPLKRNESSSSVQNYFHLDSLQKKLKDLEEENVVLRSEASQLKTETITYEEKEQQLVNDCVKELRDANVQIASISEELAKKTEDAARQQEEITHLLSQIVDLQKKAKACAVENEELVQHLGAAKDAQRQLTAELRELEDKYAECMEMLHEAQEELKNLRNKTMPNTTSRRYHSLGLFPMDSLAAEIEGTMRKELQLEEAESPDITHQKRVFETVRNINQVVKQRSLTPSPMNIPGSNQSSAMNSLLSSCVSTPRSSFYGSDIGNVVLDNKTNSIILETEAADLGNDERSKKPGTPGTPGSHDLETALRRLSLRRENYLSERRFFEEEQERKLQELAEKGELRSGSLTPTESIMSLGTHSRFSEFTGFSGMSFSSRSYLPEKLQIVKPLEGSATLHHWQQLAQPHLGGILDPRPGVVTKGFRTLDVDLDEVYCLNDFEEDDTGDHISLPRLATSTPVQHPETSAHHPGKCMSQTNSTFTFTTCRILHPSDELTRVTPRSCEEDDEAAICPVELRGDIGQRV", "length": 608, "header": "tr|A0A5F9ZH95-1|A0A5F9ZH95_HUMAN Computationally mapped isoform of Trafficking kinesin protein 1 OS=Homo sapiens OX=9606 GN=TRAK1 PE=1 SV=1 CANONICAL=Q9UPV9-1" }, "locus": { "chromosome": "3", "start_pos": 42220568, "end_pos": 42176840, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000672026.1", "url": "https://www.ensembl.org/id/ENST00000672026.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000500099.1", "url": "https://www.ensembl.org/id/ENSP00000500099.1" } ] } }, { "isoform_ac": "A0A5F9ZI06-1", "url": "", "sequence": { "sequence": "MDATALHDDTLANSVPPSEACNHAVLACSLGIPEEHYISEAVEDAPSYRGYRDACTITDVCNSTDLPEVEIISLLEEQLPHYKLRADTIYGYDHDDWLHTPLISPDANIDLTTEQIEETLKYFLLCAERVGQMTKTYNDIDAVTRLLEEKERDLELAARIGQSLLKKNKTLTERNELLEEQVEHIREEVSQLRHELSMKDELLQFYTSAAEESEPESVCSTPLKRNESSSSVQNYFHLDSLQKKLKDLEEENVVLRSEASQLKTETITYEEKEQQLVNDCVKELRDANVQIASISEELAKKTEDAARQQEEITHLLSQIVDLQKKAKACAVENEELVQHLGAAKDAQRQLTAELRELEDKYAECMEMLHEAQEELKNLRNKTMPNTTSRRYHSLGLFPMDSLAAEIEGTMRKELQLEEAESPDITHQKRVFETVRNINQVVKQRSLTPSPMNIPGSNQSSAMNSLLSSCVSTPRSSFYGSDIGNVVLDNKTNSIILETEAADLGNDERSKKPGTPGTPGSHDLETALRRLSLRRENYLSERRFFEEEQERKLQELAEKGELRSGSLTPTESIMSLGTHSRFSEFTGFSGMSFSSRSYLPEKLQIVKPLEGSATLHHWQQLAQPHLGGILDPRPGVVTKGFRTLDVDLDEVYCLNDFEEDDTGDHISLPRLATSTPVQHPETSAHHPGKCMSQTNSTFTFTTCRILHPSDELTRVTPSLNSAPTPACGSTSHLKSTPVATPCTPRRLSLAESFTNTRESTTTMSTSLGLVWLLKERGISAAVYDPQSWDRAGRGSLLHSYTPKMAVIPSTPPNSPMQTPTSSPPSFEFKCTSPPYDNFLASKPASSILREVREKNVRSSESQTDVSVSNLNLVDKVRRFGVAKVVNSGRAHVPTLTEEQGPLLCGPPGPAPALVPRGLVPEGLPLRCPTVTSAIGGLQLNSGIRRNRSFPTMVGSSMQMKAPVTLTSGILMGAKLSKQTSLR", "length": 981, "header": "tr|A0A5F9ZI06-1|TRAK1_HUMAN Computationally mapped isoform of Trafficking kinesin-binding protein 1 OS=Homo sapiens OX=9606 GN=TRAK1 PE=1 SV=2 CANONICAL=Q9UPV9-1" }, "locus": { "chromosome": "3", "start_pos": 42223734, "end_pos": 42087226, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000673621.2", "url": "https://www.ensembl.org/id/ENST00000673621.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000500819.2", "url": "https://www.ensembl.org/id/ENSP00000500819.2" } ] } }, { "isoform_ac": "C9JC32-1", "url": "", "sequence": { "sequence": "MSLRDKGGEEECFEYDCQDEERKPTHRQHDTQDLLEEVLCAERVGQMTKTYNDIDAVTRLLEEKERDLELAARIGQSLLKKNKTLTERNELLEEQVEHIREEVSQLRHELSMKDELLQFYTSAAEESEPESVCSTPLKRNESSSSVQNYFHLDSLQKKLKDLEEENVVLRSEASQLKTETITYEEKEQQLVNDCVKELRDANVQIASISEELAKKTEDAARQQEEITHLLSQIVDLQKKAKACAVENEELVQHLGAAKDAQRQLTAELRELEDKYAECMEMLHEAQEELKNLRNKTMPNTTSRRYHSLGLFPMDSLAAEIEGTMRKELQLEEAESPDITHQKRVFETVRNINQVVKQRSLTPSPMNIPGSNQSSAMNSLLSSCVSTPRSSFYGSDIGNVVLDNKTNSIILETEAADLGNDERSKKPGTPGTPGSHDLETALRRLSLRRENYLSERRFFEEEQERKLQELAEKGELRSGSLTPTESIMSLGTHSRFSEFTGFSGMSFSSRSYLPEKLQIVKPLEGSATLHHWQQLAQPHLGGILDPRPGVVTKGFRTLDVDLDEVYCLNDFEEDDTGDHISLPRLATSTPVQHPETSAHHPGKCMSQTNSTFTFTTCRILHPSDELTRVTPSLNSAPTPACGSTSHLKSTPVATPCTPRRLSLAESFTNTRESTTTMSTSLGLVWLLKERGISAAVYDPQSWDRAGRGSLLHSYTPKMAVIPSTPPNSPMQTPTSSPPSFEFKCTSPPYDNFLASKPASSILREVREKNVRSSESQTDVSVSNLNLVDKVRRFGVAKVVNSGRAHVPTLTEEQGPLLCGPPGPAPALVPRGLVPEGLPLRCPTVTSAIGGLQLNSGIRRNRSFPTMVGSSMQMKAPVTLTSGILMGAKLSKQTSLR", "length": 895, "header": "tr|C9JC32-1|TRAK1_HUMAN Computationally mapped isoform of Trafficking kinesin-binding protein 1 OS=Homo sapiens OX=9606 GN=TRAK1 PE=1 SV=1 CANONICAL=Q9UPV9-1" }, "locus": { "chromosome": "3", "start_pos": 42223734, "end_pos": 42160362, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000396175.5", "url": "https://www.ensembl.org/id/ENST00000396175.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000379478.1", "url": "https://www.ensembl.org/id/ENSP00000379478.1" } ] } }, { "isoform_ac": "F8WDH2-1", "url": "", "sequence": { "sequence": "MQKFIEADYYELDWYYEECSDALPQLSLLALRDPDLSSSKSKGK", "length": 44, "header": "tr|F8WDH2-1|TRAK1_HUMAN Computationally mapped isoform of Trafficking kinesin-binding protein 1 OS=Homo sapiens OX=9606 GN=TRAK1 PE=1 SV=1 CANONICAL=Q9UPV9-1" }, "locus": { "chromosome": "3", "start_pos": 42151402, "end_pos": 42149536, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000418790.5", "url": "https://www.ensembl.org/id/ENST00000418790.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000409940.1", "url": "https://www.ensembl.org/id/ENSP00000409940.1" } ] } }, { "isoform_ac": "H7C3T3-1", "url": "", "sequence": { "sequence": "DANVQIASISEELAKKTEDAARQQEEITHLLSQIVDLQKKAKALRELEDKYAECMEMLHEAQEELKNLRNKTMPNTTSRRYHSLGLFPMDSLAAEIEGTMRKELQLEEAESPDITHQKRVFETVRNINQVVKQRSLTPSPMNIPGSNQSSAMNSLLSSCVSTPRSSFYGSDIGNVVLDNKTNSIILETEAADLGNDERSKKPGTPGTPGSHDLETALRRLSLRRENYLSERRFFEEEQERKLQELAEKGELRSGSLTPTESIMSLGTHSRFSEFTGFSGMSFSSRSYLPEKLQIVKPLEG", "length": 300, "header": "tr|H7C3T3-1|H7C3T3_HUMAN Computationally mapped isoform of Trafficking kinesin protein 1 OS=Homo sapiens OX=9606 GN=TRAK1 PE=1 SV=1 CANONICAL=Q9UPV9-1" }, "locus": { "chromosome": "3", "start_pos": 42202754, "end_pos": 42193077, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000427771.1", "url": "https://www.ensembl.org/id/ENST00000427771.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000413729.1", "url": "https://www.ensembl.org/id/ENSP00000413729.1" } ] } }, { "isoform_ac": "Q9UPV9-1", "url": "", "sequence": { "sequence": "MALVFQFGQPVRAQPLPGLCHGKLIRTNACDVCNSTDLPEVEIISLLEEQLPHYKLRADTIYGYDHDDWLHTPLISPDANIDLTTEQIEETLKYFLLCAERVGQMTKTYNDIDAVTRLLEEKERDLELAARIGQSLLKKNKTLTERNELLEEQVEHIREEVSQLRHELSMKDELLQFYTSAAEESEPESVCSTPLKRNESSSSVQNYFHLDSLQKKLKDLEEENVVLRSEASQLKTETITYEEKEQQLVNDCVKELRDANVQIASISEELAKKTEDAARQQEEITHLLSQIVDLQKKAKACAVENEELVQHLGAAKDAQRQLTAELRELEDKYAECMEMLHEAQEELKNLRNKTMPNTTSRRYHSLGLFPMDSLAAEIEGTMRKELQLEEAESPDITHQKRVFETVRNINQVVKQRSLTPSPMNIPGSNQSSAMNSLLSSCVSTPRSSFYGSDIGNVVLDNKTNSIILETEAADLGNDERSKKPGTPGTPGSHDLETALRRLSLRRENYLSERRFFEEEQERKLQELAEKGELRSGSLTPTESIMSLGTHSRFSEFTGFSGMSFSSRSYLPEKLQIVKPLEGSATLHHWQQLAQPHLGGILDPRPGVVTKGFRTLDVDLDEVYCLNDFEEDDTGDHISLPRLATSTPVQHPETSAHHPGKCMSQTNSTFTFTTCRILHPSDELTRVTPSLNSAPTPACGSTSHLKSTPVATPCTPRRLSLAESFTNTRESTTTMSTSLGLVWLLKERGISAAVYDPQSWDRAGRGSLLHSYTPKMAVIPSTPPNSPMQTPTSSPPSFEFKCTSPPYDNFLASKPASSILREVREKNVRSSESQTDVSVSNLNLVDKVRRFGVAKVVNSGRAHVPTLTEEQGPLLCGPPGPAPALVPRGLVPEGLPLRCPTVTSAIGGLQLNSGIRRNRSFPTMVGSSMQMKAPVTLTSGILMGAKLSKQTSLR", "length": 953, "header": "sp|Q9UPV9-1|TRAK1_HUMAN Isoform 1 of Trafficking kinesin-binding protein 1 OS=Homo sapiens OX=9606 GN=TRAK1 PE=1 SV=1 CANONICAL=Q9UPV9-1" }, "locus": { "chromosome": "3", "start_pos": 42223734, "end_pos": 42091470, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000327628.10", "url": "https://www.ensembl.org/id/ENST00000327628.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000328998.5", "url": "https://www.ensembl.org/id/ENSP00000328998.5" } ] } }, { "isoform_ac": "Q9UPV9-2", "url": "", "sequence": { "sequence": "MSLRDKGGEEECFEYDCQDEERKPTHRQHDTQDLLEEVLCAERVGQMTKTYNDIDAVTRLLEEKERDLELAARIGQSLLKKNKTLTERNELLEEQVEHIREEVSQLRHELSMKDELLQFYTSAAEESEPESVCSTPLKRNESSSSVQNYFHLDSLQKKLKDLEEENVVLRSEASQLKTETITYEEKEQQLVNDCVKELRDANVQIASISEELAKKTEDAARQQEEITHLLSQIVDLQKKAKACAVENEELVQHLGAAKDAQRQLTAELRELEDKYAECMEMLHEAQEELKNLRNKTMPNTTSRRYHSLGLFPMDSLAAEIEGTMRKELQLEEAESPDITHQKRVFETVRNINQVVKQRSLTPSPMNIPGSNQSSAMNSLLSSCVSTPRSSFYGSDIGNVVLDNKTNSIILETEAADLGNDERSKKPGTPGTPGSHDLETALRRLSLRRENYLSERRFFEEEQERKLQELAEKGELRSGSLTPTESIMSLGTHSRFSEFTGFSGMSFSSRSYLPEKLQIVKPLEGSATLHHWQQLAQPHLGGILDPRPGVVTKGFRTLDVDLDEVYCLNDFEEDDTGDHISLPRLATSTPVQHPETSGERSQARVTVSGSRSYPSRPQASPEEMQEPPAATEEEEEEEEEEGSGEGTTISPVNLAPFPEAEFWAILTSVPGTIRSGSLSVASARLCG", "length": 686, "header": "sp|Q9UPV9-2|TRAK1_HUMAN Isoform 2 of Trafficking kinesin-binding protein 1 OS=Homo sapiens OX=9606 GN=TRAK1 PE=1 SV=1 CANONICAL=Q9UPV9-1" }, "locus": { "chromosome": "3", "start_pos": 42210254, "end_pos": 42160362, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000341421.7", "url": "https://www.ensembl.org/id/ENST00000341421.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000340702.3", "url": "https://www.ensembl.org/id/ENSP00000340702.3" } ] } }, { "isoform_ac": "Q9UPV9-3", "url": "", "sequence": { "sequence": "MQKFIEADYYELDWYYEECSDVLCAERVGQMTKTYNDIDAVTRLLEEKERDLELAARIGQSLLKKNKTLTERNELLEEQVEHIREEVSQLRHELSMKDELLQFYTSAAEESEPESVCSTPLKRNESSSSVQNYFHLDSLQKKLKDLEEENVVLRSEASQLKTETITYEEKEQQLVNDCVKELRDANVQIASISEELAKKTEDAARQQEEITHLLSQIVDLQKKAKACAVENEELVQHLGAAKDAQRQLTAELRELEDKYAECMEMLHEAQEELKNLRNKTMPNTTSRRYHSLGLFPMDSLAAEIEGTMRKELQLEEAESPDITHQKRVFETVRNINQVVKQRSLTPSPMNIPGSNQSSAMNSLLSSCVSTPRSSFYGSDIGNVVLDNKTNSIILETEAADLGNDERSKKPGTPGTPGSHDLETALRRLSLRRENYLSERRFFEEEQERKLQELAEKGELRSGSLTPTESIMSLGTHSRFSEFTGFSGMSFSSRSYLPEKLQIVKPLEGDHAGPRPLSVLLGDSLWSLIHLRKAGHLCHAYSFFFRDSHPRCWFEFL", "length": 556, "header": "sp|Q9UPV9-3|TRAK1_HUMAN Isoform 3 of Trafficking kinesin-binding protein 1 OS=Homo sapiens OX=9606 GN=TRAK1 PE=1 SV=1 CANONICAL=Q9UPV9-1" }, "locus": { "chromosome": "3", "start_pos": 42202898, "end_pos": 42149536, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000449246.5", "url": "https://www.ensembl.org/id/ENST00000449246.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000410717.1", "url": "https://www.ensembl.org/id/ENSP00000410717.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 447, "start_aa": "Ser", "end_pos": 447, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser447", "evidence": [ { "id": "Q9UPV9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UPV9" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "24995978", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24995978" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "12724313", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/12724313" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported", "site_seq": "S", "relation": "attached", "comment": "O-linked (GlcNAc) serine O-GlcNAcylation", "start_pos": 447, "start_aa": "Ser", "end_pos": 447, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser447", "evidence": [ { "id": "Q9UPV9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UPV9#ptm_processing" }, { "id": "24995978", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24995978" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 680, "start_aa": "Ser", "end_pos": 680, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser680", "evidence": [ { "id": "Q9UPV9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UPV9" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "24995978", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24995978" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "12724313", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/12724313" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported", "site_seq": "S", "relation": "attached", "comment": "O-linked (GlcNAc) serine O-GlcNAcylation", "start_pos": 680, "start_aa": "Ser", "end_pos": 680, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser680", "evidence": [ { "id": "Q9UPV9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UPV9#ptm_processing" }, { "id": "24995978", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24995978" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 719, "start_aa": "Ser", "end_pos": 719, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser719", "evidence": [ { "id": "Q9UPV9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UPV9" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "24995978", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24995978" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "12724313", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/12724313" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported", "site_seq": "S", "relation": "attached", "comment": "O-linked (GlcNAc) serine O-GlcNAcylation", "start_pos": 719, "start_aa": "Ser", "end_pos": 719, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser719", "evidence": [ { "id": "Q9UPV9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UPV9#ptm_processing" }, { "id": "24995978", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24995978" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 829, "start_aa": "Ser", "end_pos": 829, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser829", "evidence": [ { "id": "Q9UPV9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UPV9" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "24995978", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24995978" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "12724313", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/12724313" }, { "id": "Q9UPV9", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9UPV9" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 830, "start_aa": "Ser", "end_pos": 830, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser830", "evidence": [ { "id": "Q9UPV9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UPV9" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "24995978", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24995978" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "12724313", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/12724313" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": 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Cerami E, Schalm S, Kim JL, Lengauer C", "evidence": [ { "database": "Reactome", "id": "R-HSA-6802952", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802952" } ], "reference": [ { "type": "PubMed", "id": "25204415", "url": "https://glygen.org/publication/PubMed/25204415" } ] }, { "title": "Regulation of RAF protein kinases in ERK signalling.", "journal": "Nature reviews. Molecular cell biology", "date": "2015", "authors": "Lavoie H, Therrien M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6802952", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802952" } ], "reference": [ { "type": "PubMed", "id": "25907612", "url": "https://glygen.org/publication/PubMed/25907612" } ] }, { "title": "Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy.", "journal": "Brain", "date": "2017", "authors": "Barel O, Malicdan MCV, Ben-Zeev B, Kandel J, Pri-Chen H, Stephen J, Castro IG, Metz J, Atawa O, Moshkovitz S, Ganelin E, Barshack I, Polak-Charcon S, Nass D, Marek-Yagel D, Amariglio N, Shalva N, Vilboux T, Ferreira C, Pode-Shakked B, Heimer G, Hoffmann C, Yardeni T, Nissenkorn A, Avivi C, Eyal E, Kol N, Glick Saar E, Wallace DC, Gahl WA, Rechavi G, Schrader M, Eckmann DM, Anikster Y", "evidence": [ { "database": "UniProtKB", "id": "Q9UPV9", "url": "https://www.uniprot.org/uniprot/Q9UPV9" } ], "reference": [ { "type": "PubMed", "id": "28364549", "url": "https://glygen.org/publication/PubMed/28364549" } ] }, { "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.", "journal": "The Journal of pathology", "date": "2017", "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UPV9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UPV9" }, { "database": "O-GlcNAc Atlas", "id": "Q9UPV9", "url": "https://oglcnac.org/atlas/detail/Q9UPV9" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "title": "Hypertonia-linked protein Trak1 functions with mitofusins to promote mitochondrial tethering and fusion.", "journal": "Protein & cell", "date": "2018", "authors": "Lee CA, Chin LS, Li L", "evidence": [ { "database": "RefSeq", "id": "NP_001036111", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036111" }, { "database": "RefSeq", "id": "NP_001252538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001252538" } ], "reference": [ { "type": "PubMed", "id": "28924745", "url": "https://glygen.org/publication/PubMed/28924745" } ] }, { "title": "Expanding the genetic heterogeneity of intellectual disability.", "journal": "Hum. Genet.", "date": "2017", "authors": "Anazi S, Maddirevula S, Salpietro V, Asi YT, Alsahli S, Alhashem A, Shamseldin HE, AlZahrani F, Patel N, Ibrahim N, Abdulwahab FM, Hashem M, Alhashmi N, Al Murshedi F, Al Kindy A, Alshaer A, Rumayyan A, Al Tala S, Kurdi W, Alsaman A, Alasmari A, Banu S, Sultan T, Saleh MM, Alkuraya H, Salih MA, Aldhalaan H, Ben-Omran T, Al Musafri F, Ali R, Suleiman J, Tabarki B, El-Hattab AW, Bupp C, Alfadhel M, Al Tassan N, Monies D, Arold ST, Abouelhoda M, Lashley T, Houlden H, Faqeih E, Alkuraya FS", "evidence": [ { "database": "UniProtKB", "id": "Q9UPV9", "url": "https://www.uniprot.org/uniprot/Q9UPV9" } ], "reference": [ { "type": "PubMed", "id": "28940097", "url": "https://glygen.org/publication/PubMed/28940097" } ] }, { "title": "Correction to: Expanding the genetic heterogeneity of intellectual disability.", "journal": "Hum. Genet.", "date": "2018", "authors": "Alkuraya F.S., Houlden H., Ben-Omran T., Abouelhoda M., Alfadhel M., Ali R., Anazi S., Arold S.T., Faqeih E., Hashem M., Ibrahim N., Maddirevula S., Monies D., Patel N., Saleh M.M., Salih M.A., Shamseldin H.E., Alkuraya H., Al Tala S., Aldhalaan H., Alhashem A., Kurdi W., Al Tassan N., Abdulwahab F.M., Alasmari A., El-Hattab A.W., Alhashmi N., Tabarki B., Lashley T., Alsaman A., Suleiman J., Salpietro V., Sultan T., Alsahli S., Al Kindy A., Al Murshedi F., Al Musafri F., AlZahrani F., Alshaer A., Asi Y.T., Banu S., Bupp C., Rumayyan A.", "evidence": [ { "database": "UniProtKB", "id": "Q9UPV9", "url": "https://www.uniprot.org/uniprot/Q9UPV9" } ], "reference": [ { "type": "PubMed", "id": "29288388", "url": "https://glygen.org/publication/PubMed/29288388" } ] }, { "title": "MIRO-1 Determines Mitochondrial Shape Transition upon GPCR Activation and Ca(2+) Stress.", "journal": "Cell reports", "date": "2018", "authors": "Nemani N, Carvalho E, Tomar D, Dong Z, Ketschek A, Breves SL, Jana F, Worth AM, Heffler J, Palaniappan P, Tripathi A, Subbiah R, Riitano MF, Seelam A, Manfred T, Itoh K, Meng S, Sesaki H, Craigen WJ, Rajan S, Shanmughapriya S, Caplan J, Prosser BL, Gill DL, Stathopulos PB, Gallo G, Chan DC, Mishra P, Madesh M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013419", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013419" } ], "reference": [ { "type": "PubMed", "id": "29694881", "url": "https://glygen.org/publication/PubMed/29694881" } ] }, { "title": "Expanding the phenotype of TRAK1 mutations: hyperekplexia and refractory status epilepticus.", "journal": "Brain", "date": "2018", "authors": "Sagie S, Lerman-Sagie T, Maljevic S, Yosovich K, Detert K, Chung SK, Rees MI, Lerche H, Lev D", "evidence": [ { "database": "UniProtKB", "id": "Q9UPV9", "url": "https://www.uniprot.org/uniprot/Q9UPV9" } ], "reference": [ { "type": "PubMed", "id": "29846532", "url": "https://glygen.org/publication/PubMed/29846532" } ] }, { "title": "Arf6-driven cell invasion is intrinsically linked to TRAK1-mediated mitochondrial anterograde trafficking to avoid oxidative catastrophe.", "journal": "Nature communications", "date": "2018", "authors": "Onodera Y, Nam JM, Horikawa M, Shirato H, Sabe H", "evidence": [ { "database": "RefSeq", "id": "NP_001252538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001252538" }, { "database": "RefSeq", "id": "NP_001036111", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036111" } ], "reference": [ { "type": "PubMed", "id": "29992963", "url": "https://glygen.org/publication/PubMed/29992963" } ] }, { "title": "Identification of Miro1 and Miro2 as mitochondrial receptors for myosin XIX.", "journal": "Journal of cell science", "date": "2018", "authors": "Oeding SJ, Majstrowicz K, Hu XP, Schwarz V, Freitag A, Honnert U, Nikolaus P, Bahler M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013425", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013425" } ], "reference": [ { "type": "PubMed", "id": "30111583", "url": "https://glygen.org/publication/PubMed/30111583" } ] }, { "title": "Human Miro Proteins Act as NTP Hydrolases through a Novel, Non-Canonical Catalytic Mechanism.", "journal": "International journal of molecular sciences", "date": "2018", "authors": "Peters DT, Kay L, Eswaran J, Lakey JH, Soundararajan M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013425", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013425" } ], "reference": [ { "type": "PubMed", "id": "30513825", "url": "https://glygen.org/publication/PubMed/30513825" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UPV9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UPV9" }, { 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J, Diez S, Rohlena J, Braun M, Lansky Z", "evidence": [ { "database": "RefSeq", "id": "NP_001252538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001252538" }, { "database": "RefSeq", "id": "NP_001036111", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036111" } ], "reference": [ { "type": "PubMed", "id": "32561740", "url": "https://glygen.org/publication/PubMed/32561740" } ] }, { "title": "Methods for Enrichment and Assignment of N-Acetylglucosamine Modification Sites.", "journal": "Molecular & cellular proteomics : MCP", "date": "2021", "authors": "Maynard JC, Chalkley RJ", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "Q9UPV9", "url": "https://oglcnac.org/atlas/detail/Q9UPV9" } ], "reference": [ { "type": "PubMed", "id": "32938750", "url": "https://glygen.org/publication/PubMed/32938750" } ] }, { "title": "TRAK1-Mediated Abnormality of Mitochondrial Fission Increases Seizure Susceptibility in Temporal Lobe Epilepsy.", "journal": "Molecular neurobiology", "date": "2021", "authors": "Wu H, Liu Y, Li H, Du C, Li K, Dong S, Meng Q, Zhang H", "evidence": [ { "database": "RefSeq", "id": "NP_001252538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001252538" }, { "database": "RefSeq", "id": "NP_001036111", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036111" } ], "reference": [ { "type": "PubMed", "id": "33119838", "url": "https://glygen.org/publication/PubMed/33119838" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9UPV9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9UPV9" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Recurrent TRAK1::RAF1 Fusions in pediatric low-grade gliomas.", "journal": "Brain pathology (Zurich, Switzerland)", "date": "2023-09", "authors": "Benhamida Jamal K, Harmsen Hannah J, Ma Deqin, William Christopher M, Li Bryan K, Villafania Liliana, Sukhadia Purvil, Mullaney Kerry A, Dewan Michael C, Vakiani Efsevia, Karajannis Matthias A, Snuderl Matija, Zagzag David, Ladanyi Marc, Rosenblum Marc K, Bale Tejus A", "evidence": [ { "database": "RefSeq", "id": "NP_001036111", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036111" }, { "database": "RefSeq", "id": "NP_001252538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001252538" } ], "reference": [ { "type": "PubMed", "id": "37399073", "url": "https://glygen.org/publication/PubMed/37399073" } ] } ], "pathway": [ { "id": "hsa:22906", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:22906", "resource": "KEGG Pathway" }, { "id": "R-HSA-6802952", "name": "Signaling by BRAF and RAF1 fusions", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6802952", "resource": "Reactome", "description": "Signaling by BRAF and RAF1 fusions" }, { "id": "R-HSA-9013419", "name": "RHOT2 GTPase cycle", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013419", "resource": "Reactome", "description": "RHOT2 GTPase cycle" }, { "id": "R-HSA-9013425", "name": "RHOT1 GTPase cycle", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013425", "resource": "Reactome", "description": "RHOT1 GTPase cycle" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A8I5ZSR6-1", "protein_name": "Trafficking 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"length": 1122 }, "evidence": [ { "id": "Q9UPV9", "url": "https://omabrowser.org/oma/group/Q9UPV9/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 12, "go_terms": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9UPV9", "url": "https://www.uniprot.org/uniprot/Q9UPV9" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "Q9UPV9", "url": "https://www.uniprot.org/uniprot/Q9UPV9" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9UPV9", "url": "https://www.uniprot.org/uniprot/Q9UPV9" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9UPV9", "url": "https://www.uniprot.org/uniprot/Q9UPV9" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9UPV9", "url": "https://www.uniprot.org/uniprot/Q9UPV9" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q9UPV9", "url": "https://www.uniprot.org/uniprot/Q9UPV9" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q9UPV9", "url": "https://www.uniprot.org/uniprot/Q9UPV9" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q9UPV9", "url": "https://www.uniprot.org/uniprot/Q9UPV9" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9UPV9", "url": "https://www.uniprot.org/uniprot/Q9UPV9" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q9UPV9", "url": "https://www.uniprot.org/uniprot/Q9UPV9" } ], "pmid": "" }, { "name": "axon cytoplasm", "id": "GO:1904115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904115", "evidence": [ { "database": "UniProtKB", "id": "Q9UPV9", "url": "https://www.uniprot.org/uniprot/Q9UPV9" } ], "pmid": "" }, { "name": "axonal growth cone", "id": "GO:0044295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044295", "evidence": [ { "database": "UniProtKB", "id": "Q9UPV9", "url": "https://www.uniprot.org/uniprot/Q9UPV9" } ], 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