{ "uniprot_canonical_ac": "O60343-1", "uniprot_ac": "O60343", "uniprot_id": "TBCD4_HUMAN", "mass": { "chemical_mass": 146563.0, "monoisotopic_mass": 146563.0 }, "refseq": { "ac": "NP_001273587", "name": "TBC1 domain family member 4 isoform 2", "summary": "This gene is a member of the Tre-2/BUB2/CDC16 domain family. The protein encoded by this gene is a Rab-GTPase-activating protein, and contains two phopshotyrosine-binding domains (PTB1 and PTB2), a calmodulin-binding domain (CBD), a Rab-GTPase domain, and multiple AKT phosphomotifs. This protein is thought to play an important role in glucose homeostasis by regulating the insulin-dependent trafficking of the glucose transporter 4 (GLUT4), important for removing glucose from the bloodstream into skeletal muscle and fat tissues. Reduced expression of this gene results in an increase in GLUT4 levels at the plasma membrane, suggesting that this protein is important in intracellular retention of GLUT4 under basal conditions. When exposed to insulin, this protein is phosphorylated, dissociates from GLUT4 vesicles, resulting in increased GLUT4 at the cell surface, and enhanced glucose transport. Phosphorylation of this protein by AKT is required for proper translocation of GLUT4 to the cell surface. Individuals homozygous for a mutation in this gene are at higher risk for type 2 diabetes and have higher levels of circulating glucose and insulin levels after glucose ingestion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273587" }, "gene_names": [ { "name": "TBC1D4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60343", "id": "O60343" }, { "name": "AS160", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60343", "id": "O60343" }, { "name": "KIAA0603", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60343", "id": "O60343" } ], "protein_names": [ { "name": "TBC1 domain family member 4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60343" }, { "name": "AS160", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60343" }, { "name": "Akt substrate of 160 kDa", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60343" }, { "name": "TBC (Tre-2, BUB2, CDC16) domain-containing protein; akt substrate of 160 kDa", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273587", "id": "NP_001273587" }, { "name": "TBC1 domain family member 4 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273587", "id": "NP_001273587" } ], "function": [ { "annotation": "AS160 phosphotyrosine-binding domain constructs inhibit insulin-stimulated GLUT4 vesicle fusion with the plasma membrane", "evidence": [ { "database": "RefSeq", "id": "NP_001273587", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273587" }, { "database": "PubMed", "id": "21454690", "url": "https://glygen.org/publication/PubMed/21454690" } ] }, { "annotation": "Does TBC1D4 (AS160) or TBC1D1 Deficiency Affect the Expression of Fatty Acid Handling Proteins in the Adipocytes Differentiated from Human Adipose-Derived Mesenchymal Stem Cells (ADMSCs) Obtained from Subcutaneous and Visceral Fat Depots? Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001273587", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273587" }, { "database": "PubMed", "id": "34208471", "url": "https://glygen.org/publication/PubMed/34208471" } ] }, { "annotation": "KIAA0603 is likely to be a Rab GAP that participates in the regulation of activated T cells in atopic dermatitis", "evidence": [ { "database": "RefSeq", "id": "NP_001273587", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273587" }, { "database": "PubMed", "id": "15304337", "url": "https://glygen.org/publication/PubMed/15304337" } ] }, { "annotation": "May act as a GTPase-activating protein for RAB2A, RAB8A, RAB10 and RAB14. Isoform 2 promotes insulin-induced glucose transporter SLC2A4/GLUT4 translocation at the plasma membrane, thus increasing glucose uptake.", "evidence": [ { "database": "UniProtKB", "id": "O60343", "url": "https://www.uniprot.org/uniprot/O60343#function" }, { "database": "PubMed", "id": "18771725", "url": "https://glygen.org/publication/PubMed/18771725" }, { "database": "PubMed", "id": "22908308", "url": "https://glygen.org/publication/PubMed/22908308" }, { "database": "PubMed", "id": "15971998", "url": "https://glygen.org/publication/PubMed/15971998" } ] }, { "annotation": "Physical activity attenuates postprandial hyperglycaemia in homozygous TBC1D4 loss-of-function mutation carriers.", "evidence": [ { "database": "RefSeq", "id": "NP_001273587", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273587" }, { "database": "PubMed", "id": "33912980", "url": "https://glygen.org/publication/PubMed/33912980" } ] }, { "annotation": "Prematurely truncated TBC1D4 protein tended to increase basal cell membrane GLUT4 levels (P = 0.053) and significantly reduced insulin-stimulated GLUT4 cell membrane translocation (P < 0.05).", "evidence": [ { "database": "RefSeq", "id": "NP_001273587", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273587" }, { "database": "PubMed", "id": "19470471", "url": "https://glygen.org/publication/PubMed/19470471" } ] }, { "annotation": "The effect of diabetes and the diabetogenic TBC1D4 p.Arg684ter variant on kidney function in Inuit in Greenland.", "evidence": [ { "database": "RefSeq", "id": "NP_001273587", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273587" }, { "database": "PubMed", "id": "36944026", "url": "https://glygen.org/publication/PubMed/36944026" } ] }, { "annotation": "The transcript variant 2 of AS160 in contrast to full-length AS160 is a novel regulator of glucose transport that positively influences glucose-uptake rates.", "evidence": [ { "database": "RefSeq", "id": "NP_001273587", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273587" }, { "database": "PubMed", "id": "18771725", "url": "https://glygen.org/publication/PubMed/18771725" } ] }, { "annotation": "This gene is a member of the Tre-2/BUB2/CDC16 domain family. The protein encoded by this gene is a Rab-GTPase-activating protein, and contains two phopshotyrosine-binding domains (PTB1 and PTB2), a calmodulin-binding domain (CBD), a Rab-GTPase domain, and multiple AKT phosphomotifs. This protein is thought to play an important role in glucose homeostasis by regulating the insulin-dependent trafficking of the glucose transporter 4 (GLUT4), important for removing glucose from the bloodstream into skeletal muscle and fat tissues. Reduced expression of this gene results in an increase in GLUT4 levels at the plasma membrane, suggesting that this protein is important in intracellular retention of GLUT4 under basal conditions. When exposed to insulin, this protein is phosphorylated, dissociates from GLUT4 vesicles, resulting in increased GLUT4 at the cell surface, and enhanced glucose transport. Phosphorylation of this protein by AKT is required for proper translocation of GLUT4 to the cell surface. Individuals homozygous for a mutation in this gene are at higher risk for type 2 diabetes and have higher levels of circulating glucose and insulin levels after glucose ingestion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_001273587", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273587" } ] }, { "annotation": "Transporters, TBC1D4, and ARID5B Variants to Explain Glycated Hemoglobin Variability in Patients with Type 2 Diabetes.", "evidence": [ { "database": "RefSeq", "id": "NP_001273587", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273587" }, { "database": "PubMed", "id": "34265779", "url": "https://glygen.org/publication/PubMed/34265779" } ] } ], "disease": [ { "disease_id": "MONDO:0014488", "recommended_name": { "id": "MONDO:0014488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014488", "name": "diabetes mellitus, noninsulin-dependent, 5", "description": "Any type 2 diabetes mellitus in which the cause of the disease is a mutation in the TBC1D4 gene." }, "synonyms": [ { "id": "MONDO:0014488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014488", "name": "TBC1D4 type 2 diabetes mellitus", "description": "" }, { "id": "MONDO:0014488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014488", "name": "diabetes mellitus, noninsulin-dependent, 5", "description": "" }, { "id": "MONDO:0014488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014488", "name": "diabetes mellitus, noninsulin-dependent, type 5", "description": "" }, { "id": "MONDO:0014488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014488", "name": "type 2 diabetes mellitus caused by mutation in TBC1D4", "description": "" }, { "id": "MONDO:0014488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014488", "name": "NIDDM5", "description": "" }, { "id": "MIM:616087", "resource": "MIM", "url": "https://www.omim.org/entry/616087", "name": "Type 2 diabetes mellitus 5", "description": "Type 2 diabetes mellitus 5" } ], "evidence": [ { "id": "616087", "database": "MIM", "url": "https://www.omim.org/entry/616087" } ] } ], "snv": [ { "evidence": [ { "id": "O60343", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60343" } ], "glycoeffect": [], "start_pos": 457, "end_pos": 457, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "R", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "13", "chr_pos": "75349208", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "P457", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "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": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "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, 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": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, 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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 developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "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" } ] }, { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [ { "start_pos": 318, "end_pos": 318, "sequence_org": "S", "sequence_mut": "A", "comment": "80% reduction of insulin-stimulated GLUT4 translocation; when associated with A-588; A-642 and A-751.", "evidence": [ { "database": "UniProtKB", "id": "O60343", "url": "https://www.uniprot.org/uniprot/O60343" }, { "database": "PubMed", "id": "12637568", "url": "https://glygen.org/publication/PubMed/12637568" } ] }, { "start_pos": 588, "end_pos": 588, "sequence_org": "S", "sequence_mut": "A", "comment": "80% reduction of insulin-stimulated GLUT4 translocation; when associated with A-318; A-642 and A-751.", "evidence": [ { "database": "UniProtKB", "id": "O60343", "url": "https://www.uniprot.org/uniprot/O60343" }, { "database": "PubMed", "id": "12637568", "url": "https://glygen.org/publication/PubMed/12637568" } ] }, { "start_pos": 642, "end_pos": 642, "sequence_org": "T", "sequence_mut": "A", "comment": "80% reduction of insulin-stimulated GLUT4 translocation; when associated with A-318; A-588 and A-751.", "evidence": [ { "database": "UniProtKB", "id": "O60343", "url": "https://www.uniprot.org/uniprot/O60343" }, { "database": "PubMed", "id": "12637568", "url": "https://glygen.org/publication/PubMed/12637568" } ] }, { "start_pos": 751, "end_pos": 751, "sequence_org": "S", "sequence_mut": "A", "comment": "80% reduction of insulin-stimulated GLUT4 translocation; when associated with A-318; A-588 and A-642.", "evidence": [ { "database": "UniProtKB", "id": "O60343", "url": "https://www.uniprot.org/uniprot/O60343" }, { "database": "PubMed", "id": "12637568", "url": "https://glygen.org/publication/PubMed/12637568" } ] }, { "start_pos": 972, "end_pos": 972, "sequence_org": "R", "sequence_mut": "K", "comment": "Loss of Rab GTPase activation. Only 20% reduction of GLUT4 translocation; even when associated with A-318; A-588; A-642 and A-751.", "evidence": [ { "database": "UniProtKB", "id": "O60343", "url": "https://www.uniprot.org/uniprot/O60343" }, { "database": "PubMed", "id": "12637568", "url": "https://glygen.org/publication/PubMed/12637568" }, { "database": "PubMed", "id": "15971998", "url": "https://glygen.org/publication/PubMed/15971998" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "88.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136111", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136111" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "88.8", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136111", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136111" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "87.45", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136111", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136111" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "89.54", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136111", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136111" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "83.78", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136111", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136111" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "86.35", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136111", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136111" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "81.88", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136111", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136111" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "82.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136111", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136111" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "89.74", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136111", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136111" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "84.86", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136111", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136111" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "83.46", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136111", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136111" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "82.71", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136111", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136111" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "88.22", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136111", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136111" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O60343", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60343" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", 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"https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "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, 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": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O60343", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60343" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O60343", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60343" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O60343", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60343" } ], "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/O60343" } ], "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": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"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": "O60343", "url": "https://www.uniprot.org/uniprot/O60343" } ], "common_name": "Human" } ], "gene": [ { "name": "TBC1D4", "url": "https://www.uniprot.org/uniprot/O60343", "locus": { "chromosome": "13", "start_pos": 75283503, "end_pos": 75482169, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000136111", "url": "https://www.ensembl.org/id/ENSG00000136111" } ] } } ], "crossref": [ { "id": "ENSG00000136111", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136111", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O60343", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60343", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd00934", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00934", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd01269", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd01269", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "TBC1D4", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TBC1D4", "database": "GeneCards", "categories": [ "Organism-specific", "Gene Annotation" ] }, { "id": "9882", "url": "https://www.ncbi.nlm.nih.gov/gene/9882", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "19165", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=19165", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O60343", "url": "https://www.ebi.ac.uk/intact/interactors/id:O60343*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000195", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000195", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR006020", "url": "https://www.ebi.ac.uk/interpro/entry/IPR006020", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011993", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011993", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR021785", "url": "https://www.ebi.ac.uk/interpro/entry/IPR021785", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR035969", "url": "https://www.ebi.ac.uk/interpro/entry/IPR035969", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:9882", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9882", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "612465", "url": "http://www.omim.org/entry/612465", "database": "MIM", "categories": [ "Other" ] }, { "id": "616087", "url": "http://www.omim.org/entry/616087", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O60343", "url": "https://www.nextprot.org/entry/NX_O60343", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "O60343", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60343", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "HAAMFTI", "url": "https://omabrowser.org/oma/group/HAAMFTI/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2908929at2759", "url": "http://www.orthodb.org/?query=2908929at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR47219", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR47219", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR47219:SF5", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR47219:SF5", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "3QYB", "url": "https://www.rcsb.org/structure/3QYB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7NIX", "url": "https://www.rcsb.org/structure/7NIX", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00566", "url": "http://pfam.xfam.org/family/PF00566", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00640", "url": "http://pfam.xfam.org/family/PF00640", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF11830", "url": "http://pfam.xfam.org/family/PF11830", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O60343", "url": "https://pharos.nih.gov/targets/O60343", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O60343", "url": "http://purl.obolibrary.org/obo/PR_O60343", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-1445148", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1445148", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001273587", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273587", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A3B3IRT3", "url": "https://www.uniprot.org/uniprot/A0A3B3IRT3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3IRT3-1", "url": "https://www.uniprot.org/uniprot/A0A3B3IRT3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60343", "url": "https://www.uniprot.org/uniprot/O60343", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60343-1", "url": "https://www.uniprot.org/uniprot/O60343-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60343-2", "url": "https://www.uniprot.org/uniprot/O60343-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60343-3", "url": "https://www.uniprot.org/uniprot/O60343-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60343-4", "url": "https://www.uniprot.org/uniprot/O60343-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60343-5", "url": "https://www.uniprot.org/uniprot/O60343-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5JU47", "url": "https://www.uniprot.org/uniprot/Q5JU47", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5JU47-1", "url": "https://www.uniprot.org/uniprot/Q5JU47-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MEPPSCIQDEPFPHPLEPEPGVSAQPGPGKPSDKRFRLWYVGGSCLDHRTTLPMLPWLMAEIRRRSQKPEAGGCGAPAAREVILVLSAPFLRCVPAPGAGASGGTSPSATQPNPAVFIFEHKAQHISRFIHNSHDLTYFAYLIKAQPDDPESQMACHVFRATDPSQVPDVISSIRQLSKAAMKEDAKPSKDNEDAFYNSQKFEVLYCGKVTVTHKKAPSSLIDDCMEKFSLHEQQRLKIQGEQRGPDPGEDLADLEVVVPGSPGDCLPEEADGTDTHLGLPAGASQPALTSSRVCFPERILEDSGFDEQQEFRSRCSSVTGVQRRVHEGSQKSQPRRRHASAPSHVQPSDSEKNRTMLFQVGRFEINLISPDTKSVVLEKNFKDISSCSQGIKHVDHFGFICRESPEPGLSQYICYVFQCASESLVDEVMLTLKQAFSTAAALQSAKTQIKLCEACPMHSLHKLCERIEGLYPPRAKLVIQRHLSSLTDNEQADIFERVQKMKPVSDQEENELVILHLRQLCEAKQKTHVHIGEGPSTISNSTIPENATSSGRFKLDILKNKAKRSLTSSLENIFSRGANRMRGRLGSVDSFERSNSLASEKDYSPGDSPPGTPPASPPSSAWQTFPEEDSDSPQFRRRAHTFSHPPSSTKRKLNLQDGRAQGVRSPLLRQSSSEQCSNLSSVRRMYKESNSSSSLPSLHTSFSAPSFTAPSFLKSFYQNSGRLSPQYENEIRQDTASESSDGEGRKRTSSTCSNESLSVGGTSVTPRRISWRQRIFLRVASPMNKSPSAMQQQDGLDRNELLPLSPLSPTMEEEPLVVFLSGEDDPEKIEERKKSKELRSLWRKAIHQQILLLRMEKENQKLEASRDELQSRKVKLDYEEVGACQKEVLITWDKKLLNCRAKIRCDMEDIHTLLKEGVPKSRRGEIWQFLALQYRLRHRLPNKQQPPDISYKELLKQLTAQQHAILVDLGRTFPTHPYFSVQLGPGQLSLFNLLKAYSLLDKEVGYCQGISFVAGVLLLHMSEEQAFEMLKFLMYDLGFRKQYRPDMMSLQIQMYQLSRLLHDYHRDLYNHLEENEISPSLYAAPWFLTLFASQFSLGFVARVFDIIFLQGTEVIFKVALSLLSSQETLIMECESFENIVEFLKNTLPDMNTSEMEKIITQVFEMDISKQLHAYEVEYHVLQDELQESSYSCEDSETLEKLERANSQLKRQNMDLLEKLQVAHTKIQALESNLENLLTRETKMKSLIRTLEQEKMAYQKTVEQLRKLLPADALVNCDLLLRDLNCNPNNKAKIGNKP", "length": 1298, "header": "sp|O60343-1|TBCD4_HUMAN Isoform 1 of TBC1 domain family member 4 OS=Homo sapiens OX=9606 GN=TBC1D4 PE=1 SV=2 CANONICAL=O60343-1" }, "isoforms": [ { "isoform_ac": "A0A3B3IRT3-1", "url": "", "sequence": { "sequence": "MKEDAKPSKDNEDAFYNSQKFEVLYCGKVTVTHKKAPSSLIDDCMEKFSLHEQQRLKIQGEQRGPDPGEDLADLEVVVPGSPGDCLPEEADGTDTHLGLPAGASQPALTSSRVCFPERILEDSGFDEQQEFRSRCSSVTGVQRRVHEGSQKSQPRRRHASAPSHVQPSDSEKNRTMLFQVGRFEINLISPDTKSVVLEKNFKDISSCSQGIKHVDHFGFICRESPEPGLSQYICYVFQCASESLVDEVMLTLKQAFSTAAALQSAKTQIKLCEACPMHSLHKLCERIEGLYPPRAKLVIQRHLSSLTDNEQADIFERVQKMKPVSDQEENELVILHLRQLCEAKQKTHVHIGEGPSTISNSTIPENATSSGRFKLDILKNKAKRSLTSSLENIFSRGANRMRGRLGSVDSFERSNSLASEKDYSPGDSPPGTPPASPPSSAWQTFPEEDSDSPQFRRRAHTFSHPPSSTKRKLNLQDGRAQGVRSPLLRQSSSEQCSDGEGRKRTSSTCSNESLSVGGTSVTPRRISWRQRIFLRVASPMNKSPSAMQQQDGLDRNELLPLSPLSPTMEEEPLVVFLSGEDDPEKIEERKKSKELRSLWRKAIHQQILLLRMEKENQKLEASRDELQSRKVKLDYEEVGACQKEVLITWDKKLLNCRAKIRCDMEDIHTLLKEGVPKSRRGEIWQFLALQYRLRHRLPNKQQPPDISYKELLKQLTAQQHAILVDLGRTFPTHPYFSVQLGPGQLSLFNLLKAYSLLDKEVGYCQGISFVAGVLLLHMSEEQAFEMLKFLMYDLGFRKQYRPDMMSLQIQMYQLSRLLHDYHRDLYNHLEENEISPSLYAAPWFLTLFASQFSLGFVARVFDIIFLQGTEVIFKVALSLLSSQETLIMECESFENIVEFLKNTLPDMNTSEMEKIITQVFEMDISKQLHAYEVEYHVLQDELQESSYSCEDSETLEKLERANSQLKRQNMDLLEKLQVAHTKIQALESNLENLLTRETKMKSLIRTLEQEKMAYQKTVEQLRKLLPADALVNCDLLLRDLNCNPNNKAKIGNKP", "length": 1054, "header": "tr|A0A3B3IRT3-1|A0A3B3IRT3_HUMAN Computationally mapped isoform of TBC1 domain family member 4 OS=Homo sapiens OX=9606 GN=TBC1D4 PE=1 SV=1 CANONICAL=O60343-1" }, "locus": { "chromosome": "13", "start_pos": 75362562, "end_pos": 75286795, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000648194.1", "url": "https://www.ensembl.org/id/ENST00000648194.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000496983.1", "url": "https://www.ensembl.org/id/ENSP00000496983.1" } ] } }, { "isoform_ac": "O60343-1", "url": "", "sequence": { "sequence": "MEPPSCIQDEPFPHPLEPEPGVSAQPGPGKPSDKRFRLWYVGGSCLDHRTTLPMLPWLMAEIRRRSQKPEAGGCGAPAAREVILVLSAPFLRCVPAPGAGASGGTSPSATQPNPAVFIFEHKAQHISRFIHNSHDLTYFAYLIKAQPDDPESQMACHVFRATDPSQVPDVISSIRQLSKAAMKEDAKPSKDNEDAFYNSQKFEVLYCGKVTVTHKKAPSSLIDDCMEKFSLHEQQRLKIQGEQRGPDPGEDLADLEVVVPGSPGDCLPEEADGTDTHLGLPAGASQPALTSSRVCFPERILEDSGFDEQQEFRSRCSSVTGVQRRVHEGSQKSQPRRRHASAPSHVQPSDSEKNRTMLFQVGRFEINLISPDTKSVVLEKNFKDISSCSQGIKHVDHFGFICRESPEPGLSQYICYVFQCASESLVDEVMLTLKQAFSTAAALQSAKTQIKLCEACPMHSLHKLCERIEGLYPPRAKLVIQRHLSSLTDNEQADIFERVQKMKPVSDQEENELVILHLRQLCEAKQKTHVHIGEGPSTISNSTIPENATSSGRFKLDILKNKAKRSLTSSLENIFSRGANRMRGRLGSVDSFERSNSLASEKDYSPGDSPPGTPPASPPSSAWQTFPEEDSDSPQFRRRAHTFSHPPSSTKRKLNLQDGRAQGVRSPLLRQSSSEQCSNLSSVRRMYKESNSSSSLPSLHTSFSAPSFTAPSFLKSFYQNSGRLSPQYENEIRQDTASESSDGEGRKRTSSTCSNESLSVGGTSVTPRRISWRQRIFLRVASPMNKSPSAMQQQDGLDRNELLPLSPLSPTMEEEPLVVFLSGEDDPEKIEERKKSKELRSLWRKAIHQQILLLRMEKENQKLEASRDELQSRKVKLDYEEVGACQKEVLITWDKKLLNCRAKIRCDMEDIHTLLKEGVPKSRRGEIWQFLALQYRLRHRLPNKQQPPDISYKELLKQLTAQQHAILVDLGRTFPTHPYFSVQLGPGQLSLFNLLKAYSLLDKEVGYCQGISFVAGVLLLHMSEEQAFEMLKFLMYDLGFRKQYRPDMMSLQIQMYQLSRLLHDYHRDLYNHLEENEISPSLYAAPWFLTLFASQFSLGFVARVFDIIFLQGTEVIFKVALSLLSSQETLIMECESFENIVEFLKNTLPDMNTSEMEKIITQVFEMDISKQLHAYEVEYHVLQDELQESSYSCEDSETLEKLERANSQLKRQNMDLLEKLQVAHTKIQALESNLENLLTRETKMKSLIRTLEQEKMAYQKTVEQLRKLLPADALVNCDLLLRDLNCNPNNKAKIGNKP", "length": 1298, "header": "sp|O60343-1|TBCD4_HUMAN Isoform 1 of TBC1 domain family member 4 OS=Homo sapiens OX=9606 GN=TBC1D4 PE=1 SV=2 CANONICAL=O60343-1" }, "locus": { "chromosome": "13", "start_pos": 75481767, "end_pos": 75286795, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000377636.8", "url": "https://www.ensembl.org/id/ENST00000377636.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000366863.3", "url": "https://www.ensembl.org/id/ENSP00000366863.3" } ] } }, { "isoform_ac": "O60343-2", "url": "", "sequence": { "sequence": "MEPPSCIQDEPFPHPLEPEPGVSAQPGPGKPSDKRFRLWYVGGSCLDHRTTLPMLPWLMAEIRRRSQKPEAGGCGAPAAREVILVLSAPFLRCVPAPGAGASGGTSPSATQPNPAVFIFEHKAQHISRFIHNSHDLTYFAYLIKAQPDDPESQMACHVFRATDPSQVPDVISSIRQLSKAAMKEDAKPSKDNEDAFYNSQKFEVLYCGKVTVTHKKAPSSLIDDCMEKFSLHEQQRLKIQGEQRGPDPGEDLADLEVVVPGSPGDCLPEEADGTDTHLGLPAGASQPALTSSRVCFPERILEDSGFDEQQEFRSRCSSVTGVQRRVHEGSQKSQPRRRHASAPSHVQPSDSEKNRTMLFQVGRFEINLISPDTKSVVLEKNFKDISSCSQGIKHVDHFGFICRESPEPGLSQYICYVFQCASESLVDEVMLTLKQAFSTAAALQSAKTQIKLCEACPMHSLHKLCERIEGLYPPRAKLVIQRHLSSLTDNEQADIFERVQKMKPVSDQEENELVILHLRQLCEAKQKTHVHIGEGPSTISNSTIPENATSSGRFKLDILKNKAKRSLTSSLENIFSRGANRMRGRLGSVDSFERSNSLASEKDYSPGDSPPGTPPASPPSSAWQTFPEEDSDSPQFRRRAHTFSHPPSSTKRKLNLQDGRAQGVRSPLLRQSSSEQCSDGEGRKRTSSTCSNESLSVGGTSVTPRRISWRQRIFLRVASPMNKSPSAMQQQDGLDRNELLPLSPLSPTMEEEPLVVFLSGEDDPEKIEERKKSKELRSLWRKAIHQQILLLRMEKENQKLEASRDELQSRKVKLDYEEVGACQKEVLITWDKKLLNCRAKIRCDMEDIHTLLKEGVPKSRRGEIWQFLALQYRLRHRLPNKQQPPDISYKELLKQLTAQQHAILVDLGRTFPTHPYFSVQLGPGQLSLFNLLKAYSLLDKEVGYCQGISFVAGVLLLHMSEEQAFEMLKFLMYDLGFRKQYRPDMMSLQIQMYQLSRLLHDYHRDLYNHLEENEISPSLYAAPWFLTLFASQFSLGFVARVFDIIFLQGTEVIFKVALSLLSSQETLIMECESFENIVEFLKNTLPDMNTSEMEKIITQVFEMDISKQLHAYEVEYHVLQDELQESSYSCEDSETLEKLERANSQLKRQNMDLLEKLQVAHTKIQALESNLENLLTRETKMKSLIRTLEQEKMAYQKTVEQLRKLLPADALVNCDLLLRDLNCNPNNKAKIGNKP", "length": 1235, "header": "sp|O60343-2|TBCD4_HUMAN Isoform 2 of TBC1 domain family member 4 OS=Homo sapiens OX=9606 GN=TBC1D4 PE=1 SV=2 CANONICAL=O60343-1" }, "locus": { "chromosome": "13", "start_pos": 75481767, "end_pos": 75286795, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000377625.6", "url": "https://www.ensembl.org/id/ENST00000377625.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000366852.2", "url": "https://www.ensembl.org/id/ENSP00000366852.2" } ] } }, { "isoform_ac": "O60343-3", "url": "", "sequence": { "sequence": "MEPPSCIQDEPFPHPLEPEPGVSAQPGPGKPSDKRFRLWYVGGSCLDHRTTLPMLPWLMAEIRRRSQKPEAGGCGAPAAREVILVLSAPFLRCVPAPGAGASGGTSPSATQPNPAVFIFEHKAQHISRFIHNSHDLTYFAYLIKAQPDDPESQMACHVFRATDPSQVPDVISSIRQLSKAAMKEDAKPSKDNEDAFYNSQKFEVLYCGKVTVTHKKAPSSLIDDCMEKFSLHEQQRLKIQGEQRGPDPGEDLADLEVVVPGSPGDCLPEEADGTDTHLGLPAGASQPALTSSRVCFPERILEDSGFDEQQEFRSRCSSVTGVQRRVHEGSQKSQPRRRHASAPSHVQPSDSEKNRTMLFQVGRFEINLISPDTKSVVLEKNFKDISSCSQGIKHVDHFGFICRESPEPGLSQYICYVFQCASESLVDEVMLTLKQAFSTAAALQSAKTQIKLCEACPMHSLHKLCERIEGLYPPRAKLVIQRHLSSLTDNEQADIFERVQKMKPVSDQEENELVILHLRQLCEAKQKTHVHIGEGPSTISNSTIPENATSSGRFKLDILKNKAKRSLTSSLENIFSRGANRMRGRLGSVDSFERSNSLASEKDYSPGDSPPGTPPASPPSSAWQTFPEEDSDSPQFRRRAHTFSHPPSSTKRKLNLQDGRAQGVRSPLLRQSSSEQCSNLSSVRRMYKESNSSSSLPSLHTSFSAPSFTAPSFLKSFYQNSGRLSPQYENEISDGEGRKRTSSTCSNESLSVGGTSVTPRRISWRQRIFLRVASPMNKSPSAMQQQDGLDRNELLPLSPLSPTMEEEPLVVFLSGEDDPEKIEERKKSKELRSLWRKAIHQQILLLRMEKENQKLEASRDELQSRKVKLDYEEVGACQKEVLITWDKKLLNCRAKIRCDMEDIHTLLKEGVPKSRRGEIWQFLALQYRLRHRLPNKQQPPDISYKELLKQLTAQQHAILVDLGRTFPTHPYFSVQLGPGQLSLFNLLKAYSLLDKEVGYCQGISFVAGVLLLHMSEEQAFEMLKFLMYDLGFRKQYRPDMMSLQIQMYQLSRLLHDYHRDLYNHLEENEISPSLYAAPWFLTLFASQFSLGFVARVFDIIFLQGTEVIFKVALSLLSSQETLIMECESFENIVEFLKNTLPDMNTSEMEKIITQVFEMDISKQLHAYEVEYHVLQDELQESSYSCEDSETLEKLERANSQLKRQNMDLLEKLQVAHTKIQALESNLENLLTRETKMKSLIRTLEQEKMAYQKTVEQLRKLLPADALVNCDLLLRDLNCNPNNKAKIGNKP", "length": 1290, "header": "sp|O60343-3|TBCD4_HUMAN Isoform 3 of TBC1 domain family member 4 OS=Homo sapiens OX=9606 GN=TBC1D4 PE=1 SV=2 CANONICAL=O60343-1" }, "locus": { "chromosome": "13", "start_pos": 75481767, "end_pos": 75286795, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000431480.6", "url": "https://www.ensembl.org/id/ENST00000431480.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000395986.2", "url": "https://www.ensembl.org/id/ENSP00000395986.2" } ] } }, { "isoform_ac": "O60343-4", "url": "", "sequence": { "sequence": "MNKSPSAMQQQDGLDRNELLPLSPLSPTMEEEPLVVFLSGEDDPEKIEERKKSKELRSLWRKAIHQQILLLRMEKENQKLEGVPKSRRGEIWQFLALQYRLRHRLPNKQQPPDISYKELLKQLTAQQHAILVDLGRTFPTHPYFSVQLGPGQLSLFNLLKAYSLLDKEVGYCQGISFVAGVLLLHMSEEQAFEMLKFLMYDLGFRKQYRPDMMSLQIQMYQLSRLLHDYHRDLYNHLEENEISPSLYAAPWFLTLFASQFSLGFVARVFDIIFLQGTEVIFKVALSLLSSQETLIMECESFENIVEFLKNTLPDMNTSEMEKIITQVFEMDISKQLHAYEVEYHVLQDELQESSYSCEDSETLEKLERANSQLKRQNMDLLEKLQVAHTKIQALESNLENLLTRETKMKSLIRTLEQEKMAYQKTVEQLRKLLPADALVNCDLLLRDLNCNPNNKAKIGNKP", "length": 462, "header": "sp|O60343-4|TBCD4_HUMAN Isoform 4 of TBC1 domain family member 4 OS=Homo sapiens OX=9606 GN=TBC1D4 PE=1 SV=2 CANONICAL=O60343-1" }, "locus": {} }, { "isoform_ac": "O60343-5", "url": "", "sequence": { "sequence": "MNKSPSAMQQQDGLDRNELLPLSPLSPTMEEEPLVVFLSGEDDPEKIEERKKSKELRSLWRKAIHQQILLLRMEKENQKLEASRDELQSRKVKLDYEEVGACQKEVLITWDKKLLNCRAKIRCDMEDIHTLLKEGVPKSRRGEIWQFLALQYRLRHRLPNKQQPPDISYKELLKQLTAQQHAILVDLGRTFPTHPYFSVQLGPGQLSLFNLLKAYSLLDKEVGYCQGISFVAGVLLLHMSEEQAFEMLKFLMYDLGFRKQYRPDMMSLQIQMYQLSRLLHDYHRDLYNHLEENEISPSLYAAPWFLTLFASQFSLGFVARVFDIIFLQGTEVIFKVALSLLSSQETLIMECESFENIVEFLKNTLPDMNTSEMEKIITQVFEMDISKQLHAYEVEYHVLQDELQESSYSCEDSETLEKLERANSQLKRQNMDLLEKLQVAHTKIQALESNLENLLTRETKMKSLIRTLEQEKMAYQKTVEQLRKLLPADALVNCDLLLRDLNCNPNNKAKIGNKP", "length": 515, "header": "sp|O60343-5|TBCD4_HUMAN Isoform 5 of TBC1 domain family member 4 OS=Homo sapiens OX=9606 GN=TBC1D4 PE=1 SV=2 CANONICAL=O60343-1" }, "locus": {} }, { "isoform_ac": "Q5JU47-1", "url": "", "sequence": { "sequence": "DNEQADIFERVQKMKPVSDQEENELVILHLRQLCEAKQKTHVHIGEGPSTISNSTIPENATSSGRFKLDILKNKAKRSLTSSLENIFSRGANRMRGRLGSVDSFERSNSLASEKDYSPGDSPPGTPPASPPSSAWQTFPEEDSDSPQFRRRAHTFSHPPSSTKRKLNLQDGRAQGVRSPLLRQSSSEQCSDGEGRKRTSSTCSNESLSVGGTSVTPRRISWRQRIFLRVASPMNKSPSAMQQQDGLDRNELLPLSPLSPTMEEEPLVVFLSGEDDPEKIEER", "length": 282, "header": "tr|Q5JU47-1|Q5JU47_HUMAN Computationally mapped isoform of TBC1 domain family member 4 OS=Homo sapiens OX=9606 GN=TBC1D4 PE=1 SV=1 CANONICAL=O60343-1" }, "locus": { "chromosome": "13", "start_pos": 75341531, "end_pos": 75310036, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000413735.1", "url": "https://www.ensembl.org/id/ENST00000413735.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000396932.1", "url": "https://www.ensembl.org/id/ENSP00000396932.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O60343", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60343" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" } ] } ], "phosphorylation": [ { "start_pos": 262, "end_pos": 262, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60343", "url": "https://www.uniprot.org/uniprot/O60343" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O60343", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60343" } ], "site_lbl": "Ser262" }, { "start_pos": 314, "end_pos": 314, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60343", "url": "https://www.uniprot.org/uniprot/O60343" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O60343", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60343" } ], "site_lbl": "Ser314" }, { "start_pos": 318, "end_pos": 318, "kinase_uniprot_canonical_ac": "O00141-1", "kinase_gene_name": "SGK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60343", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60343" }, { "database": "PubMed", "id": "17617058", "url": "https://glygen.org/publication/PubMed/17617058" } ], "site_lbl": "Ser318" }, { "start_pos": 318, "end_pos": 318, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by PKB/AKT1", "evidence": [ { "database": "UniProtKB", "id": "O60343", "url": "https://www.uniprot.org/uniprot/O60343" }, { "database": "phospho.ELM", "id": "O60343", "url": "http://phospho.elm.eu.org/byAccession/O60343.html" }, { "database": "iPTMnet", "id": "O60343", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60343" }, { "database": "PubMed", "id": "12637568", "url": "https://glygen.org/publication/PubMed/12637568" }, { "database": "PubMed", "id": "17617058", "url": "https://glygen.org/publication/PubMed/17617058" }, { "database": "PRO", "id": "O60343", "url": "http://purl.obolibrary.org/obo/O60343" }, { "database": "PubMed", "id": "19252894", "url": "https://glygen.org/publication/PubMed/19252894" }, { "database": "PubMed", "id": "20410134", "url": "https://glygen.org/publication/PubMed/20410134" }, { "database": "PubMed", "id": "20938636", "url": "https://glygen.org/publication/PubMed/20938636" }, { "database": "PubMed", "id": "23801578", "url": "https://glygen.org/publication/PubMed/23801578" }, { "database": "PubMed", "id": "25103239", "url": "https://glygen.org/publication/PubMed/25103239" }, { "database": "PubMed", "id": "28292969", "url": "https://glygen.org/publication/PubMed/28292969" } ], "site_lbl": "Ser318" }, { "start_pos": 341, "end_pos": 341, "kinase_uniprot_canonical_ac": "Q15418-1", "kinase_gene_name": "RPS6KA1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60343", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60343" }, { "database": "PubMed", "id": "17617058", "url": "https://glygen.org/publication/PubMed/17617058" } ], "site_lbl": "Ser341" }, { "start_pos": 341, "end_pos": 341, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60343", "url": "https://www.uniprot.org/uniprot/O60343" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "O60343", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60343" }, { "database": "PubMed", "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340" }, { "database": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" }, { "database": "PubMed", "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344" }, { "database": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" }, { "database": "phospho.ELM", "id": "O60343", "url": "http://phospho.elm.eu.org/byAccession/O60343.html" }, { "database": "PubMed", "id": "12637568", "url": "https://glygen.org/publication/PubMed/12637568" }, { "database": "PubMed", "id": "17617058", "url": "https://glygen.org/publication/PubMed/17617058" }, { "database": "PRO", "id": "O60343", "url": "http://purl.obolibrary.org/obo/O60343" }, { "database": "PubMed", "id": "17995453", "url": "https://glygen.org/publication/PubMed/17995453" }, { "database": "PubMed", "id": "19252894", "url": "https://glygen.org/publication/PubMed/19252894" }, { "database": "PubMed", "id": "22851577", "url": "https://glygen.org/publication/PubMed/22851577" }, { "database": "PubMed", "id": "24247980", "url": "https://glygen.org/publication/PubMed/24247980" }, { "database": "PubMed", "id": "24876356", "url": "https://glygen.org/publication/PubMed/24876356" }, { "database": "PubMed", "id": "30135087", "url": "https://glygen.org/publication/PubMed/30135087" } ], "site_lbl": "Ser341" }, { "start_pos": 344, "end_pos": 344, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60343", "url": "https://www.uniprot.org/uniprot/O60343" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "O60343", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60343" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "phospho.ELM", "id": "O60343", "url": "http://phospho.elm.eu.org/byAccession/O60343.html" } ], "site_lbl": "Ser344" }, { "start_pos": 551, "end_pos": 551, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "O60343", "url": "http://phospho.elm.eu.org/byAccession/O60343.html" }, { "database": "iPTMnet", "id": "O60343", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60343" }, { "database": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" } ], "site_lbl": "Ser551" }, { "start_pos": 566, "end_pos": 566, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60343", "url": "https://www.uniprot.org/uniprot/O60343" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "O60343", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60343" }, { "database": "phospho.ELM", "id": "O60343", "url": "http://phospho.elm.eu.org/byAccession/O60343.html" }, { "database": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" } ], "site_lbl": "Ser566" }, { "start_pos": 568, "end_pos": 568, "kinase_uniprot_canonical_ac": "O00141-1", "kinase_gene_name": "SGK1", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60343", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60343" }, { "database": "PubMed", "id": "17617058", "url": "https://glygen.org/publication/PubMed/17617058" } ], "site_lbl": "Thr568" }, { "start_pos": 568, "end_pos": 568, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O60343", "url": "https://www.uniprot.org/uniprot/O60343" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "O60343", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60343" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "O60343", "url": "http://phospho.elm.eu.org/byAccession/O60343.html" }, { "database": "PubMed", "id": "17617058", "url": "https://glygen.org/publication/PubMed/17617058" }, { "database": "PubMed", "id": "20410134", "url": "https://glygen.org/publication/PubMed/20410134" } ], "site_lbl": "Thr568" }, { "start_pos": 569, "end_pos": 569, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60343", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60343" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ], "site_lbl": "Ser569" }, { "start_pos": 570, "end_pos": 570, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60343", "url": "https://www.uniprot.org/uniprot/O60343" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "O60343", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60343" }, { "database": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" }, { "database": "PubMed", "id": "17693683", "url": "https://glygen.org/publication/PubMed/17693683" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "phospho.ELM", "id": "O60343", "url": "http://phospho.elm.eu.org/byAccession/O60343.html" }, { "database": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" }, { "database": "PubMed", "id": "12637568", "url": "https://glygen.org/publication/PubMed/12637568" }, { "database": "PubMed", "id": "17617058", "url": "https://glygen.org/publication/PubMed/17617058" }, { "database": "PRO", "id": "O60343", "url": "http://purl.obolibrary.org/obo/O60343" } ], "site_lbl": "Ser570" }, { "start_pos": 588, "end_pos": 588, "kinase_uniprot_canonical_ac": "O00141-1", "kinase_gene_name": "SGK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60343", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60343" }, { "database": "PubMed", "id": "17617058", "url": "https://glygen.org/publication/PubMed/17617058" } ], "site_lbl": "Ser588" }, { "start_pos": 588, "end_pos": 588, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by PKB/AKT1", "evidence": [ { "database": "UniProtKB", "id": "O60343", "url": "https://www.uniprot.org/uniprot/O60343" }, { "database": "iPTMnet", "id": "O60343", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60343" }, { "database": "PubMed", "id": "16083285", "url": "https://glygen.org/publication/PubMed/16083285" }, { "database": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" }, { "database": "PubMed", "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "O60343", "url": "http://phospho.elm.eu.org/byAccession/O60343.html" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" }, { "database": "PubMed", "id": "17617058", "url": "https://glygen.org/publication/PubMed/17617058" }, { "database": "PRO", "id": "O60343", "url": "http://purl.obolibrary.org/obo/O60343" }, { "database": "PubMed", "id": "19252894", "url": "https://glygen.org/publication/PubMed/19252894" }, { "database": "PubMed", "id": "19897488", "url": "https://glygen.org/publication/PubMed/19897488" }, { "database": "PubMed", "id": "20410134", "url": "https://glygen.org/publication/PubMed/20410134" }, { "database": "PubMed", "id": "20938636", "url": "https://glygen.org/publication/PubMed/20938636" }, { "database": "PubMed", "id": "22851577", "url": "https://glygen.org/publication/PubMed/22851577" }, { "database": "PubMed", "id": "23801578", "url": "https://glygen.org/publication/PubMed/23801578" }, { "database": "PubMed", "id": "24843827", "url": "https://glygen.org/publication/PubMed/24843827" }, { "database": "PubMed", "id": "24876356", "url": 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"Diabetologia", "date": "2021", "authors": "Schnurr TM, Jorsboe E, Chadt A, Dahl-Petersen IK, Kristensen JM, Wojtaszewski JFP, Springer C, Bjerregaard P, Brage S, Pedersen O, Moltke I, Grarup N, Al-Hasani H, Albrechtsen A, Jorgensen ME, Hansen T", "evidence": [ { "database": "RefSeq", "id": "NP_001273587", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273587" } ], "reference": [ { "type": "PubMed", "id": "33912980", "url": "https://glygen.org/publication/PubMed/33912980" } ] }, { "title": "Does TBC1D4 (AS160) or TBC1D1 Deficiency Affect the Expression of Fatty Acid Handling Proteins in the Adipocytes Differentiated from Human Adipose-Derived Mesenchymal Stem Cells (ADMSCs) Obtained from Subcutaneous and Visceral Fat Depots?", "journal": "Cells", "date": "2021", "authors": "Miklosz A, Lukaszuk B, Supruniuk E, Grubczak K, Moniuszko M, Choromanska B, Mysliwiec P, Chabowski A", "evidence": [ { "database": "RefSeq", "id": "NP_001273587", "url": 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Maria, D\u00edaz Lars Jorge, Bjerregaard Peter, Pedersen Michael Lynge, Larsen Christina Viskum Lytken, Grarup Niels, Hansen Torben, Rossing Peter, J\u00f8rgensen Marit Eika", "evidence": [ { "database": "RefSeq", "id": "NP_001273587", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273587" } ], "reference": [ { "type": "PubMed", "id": "36944026", "url": "https://glygen.org/publication/PubMed/36944026" } ] }, { "title": "Characterization of a guanine nucleotide dissociation stimulator for a ras-related GTPase.", "journal": "The EMBO journal", "date": "1993", "authors": "Albright CF, Giddings BW, Liu J, Vito M, Weinberg RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-1445148", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1445148" } ], "reference": [ { "type": "PubMed", "id": "8094051", "url": "https://glygen.org/publication/PubMed/8094051" } ] }, { "title": "Characterization of human platelet GTPase activating protein for the Ral GTP-binding protein.", "journal": "Biochimica et biophysica acta", "date": "1996", "authors": "Bhullar RP, Seneviratne HD", "evidence": [ { "database": "Reactome", "id": "R-HSA-1445148", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1445148" } ], "reference": [ { "type": "PubMed", "id": "8664345", "url": "https://glygen.org/publication/PubMed/8664345" } ] } ], "pathway": [ { "id": "hsa:9882", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9882", "resource": "KEGG Pathway" }, { "id": "R-HSA-1445148", "name": "Translocation of SLC2A4 (GLUT4) to the plasma membrane", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1445148", "resource": "Reactome", "description": "Translocation of SLC2A4 (GLUT4) to the plasma membrane" } ], "orthologs": [ { "uniprot_canonical_ac": "Q8BYJ6-1", "protein_name": "TBC1 domain family member 4", "gene_name": "Tbc1d4", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": 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