{ "uniprot_canonical_ac": "Q5VTQ0-1", "uniprot_ac": "Q5VTQ0", "uniprot_id": "TT39B_HUMAN", "mass": { "chemical_mass": 76956.0, "monoisotopic_mass": 76956.0 }, "refseq": { "ac": "NP_001161811", "name": "tetratricopeptide repeat protein 39B isoform 2", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161811" }, "gene_names": [ { "name": "TTC39B", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q5VTQ0", "id": "Q5VTQ0" }, { "name": "C9orf52", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161811", "id": "NP_001161811" }, { "name": "C9orf52", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q5VTQ0", "id": "Q5VTQ0" }, { "name": "TTC39B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161811", "id": "NP_001161811" }, { "name": "hCG_1741198", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q5VTQ0", "id": "Q5VTQ0" } ], "protein_names": [ { "name": "Tetratricopeptide repeat protein 39B", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q5VTQ0" }, { "name": "TPR repeat protein 39B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q5VTQ0" }, { "name": "tetratricopeptide repeat protein 39B isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161811", "id": "NP_001161811" }, { "name": "tetratricopeptide repeat protein 39B; TPR repeat protein 39B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161811", "id": "NP_001161811" } ], "function": [ { "annotation": "Association of rs519664[T] in TTC39B on 9p22 with endometriosis, is reported. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001161811", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161811" }, { "database": "PubMed", "id": "27453397", "url": "https://glygen.org/publication/PubMed/27453397" } ] }, { "annotation": "Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_001161811", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161811" }, { "database": "PubMed", "id": "20686565", "url": "https://glygen.org/publication/PubMed/20686565" }, { "database": "PubMed", "id": "19060906", "url": "https://glygen.org/publication/PubMed/19060906" } ] }, { "annotation": "Regulates high density lipoprotein (HDL) cholesterol metabolism by promoting the ubiquitination and degradation of the oxysterols receptors LXR (NR1H2 and NR1H3).", "evidence": [ { "database": "UniProtKB", "id": "Q5VTQ0", "url": "https://www.uniprot.org/uniprot/Q5VTQ0#function" }, { "database": "UniProtKB", "id": "Q8BYY4", "url": "https://www.uniprot.org/uniprot/Q8BYY4#function" } ] }, { "annotation": "Two new polymorphisms associated with gall bladder disease and obesity in women have been identified, GCKR rs1260326, and TTC39B rs686030.", "evidence": [ { "database": "RefSeq", "id": "NP_001161811", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161811" }, { "database": "PubMed", "id": "25920552", "url": "https://glygen.org/publication/PubMed/25920552" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "80.15", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000155158", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155158" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "77.51", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000155158", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155158" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "84.86", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000155158", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155158" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "75.09", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000155158", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155158" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "85.13", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000155158", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155158" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "71.12", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000155158", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155158" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "71.34", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000155158", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155158" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "81.95", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000155158", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155158" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "71.16", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000155158", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155158" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "73.36", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000155158", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155158" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q5VTQ0", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q5VTQ0" } ], "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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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q5VTQ0" } ], "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": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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}, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": 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"http://pfam.xfam.org/family/PF13174", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q5VTQ0", "url": "https://pharos.nih.gov/targets/Q5VTQ0", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q5VTQ0", "url": "http://purl.obolibrary.org/obo/PR_Q5VTQ0", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001161811", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161811", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A8V8N5K5", "url": "https://www.uniprot.org/uniprot/A0A8V8N5K5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8N5K5-1", "url": "https://www.uniprot.org/uniprot/A0A8V8N5K5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8NCV2", "url": "https://www.uniprot.org/uniprot/A0A8V8NCV2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8NCV2-1", "url": "https://www.uniprot.org/uniprot/A0A8V8NCV2-1", "database": "UniProtKB", 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"database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5VTQ0-4", "url": "https://www.uniprot.org/uniprot/Q5VTQ0-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5VTQ0-5", "url": "https://www.uniprot.org/uniprot/Q5VTQ0-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5VTQ0-6", "url": "https://www.uniprot.org/uniprot/Q5VTQ0-6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5VTQ0-7", "url": "https://www.uniprot.org/uniprot/Q5VTQ0-7", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDAVLACRLRGRGNRVAALRPRPRPGGSAGPSPFALLCAGLSPEPRAGVGSEFPAWFLGGSSQRRNMALLGSRAELEADEDVFEDALETISISSHSDMATSSLHFASCDTQQAPRQRGASTVSSSSSTKVDLKSGLEECAVALNLFLSNKFTDALELLRPWAKESMYHALGYSTIVVLQAVLTFEQQDIQNGISAMKDALQTCQKYRKKYTVVESFSSLLSRGSLEQLSEEEMHAEICYAECLLQKAALTFVQDENMINFIKGGLKIRTSYQIYKECLSILHEIQKNKLQQEFFYEFEGGVKLGSGAFNLMLSLLPARIIRLLEFIGFSGNRELGLLQLREGASGRSMRSALCCLTILAFHTYISLILGTGEVNVAEAERLLAPFLQQFPNGSLVLFYHARIELLKGNLEEAQEVFQKCISVQEEWKQFHHLCYWELMWINVFQQNWMQAYYYSDLLCKESKWSKATYVFLKAAILSMLPEEDVVATNENVVTLFRQVDSLKQRIAGKSIPTEKFAVRKARRYSASLPAPVKLILPALEMMYVWNGFSIVSKRKDLSENLLVTVEKAEAALQSQNFNSFSVDDECLVKLLKGCCLKNLQRPLQAELCYNHVVESEKLLKYDHYLVPFTLFELASLYKSQGEIDKAIKFLETARNNYKDYSLESRLHFRIQAALHLWRKPSSD", "length": 682, "header": "sp|Q5VTQ0-1|TT39B_HUMAN Isoform 1 of Tetratricopeptide repeat protein 39B OS=Homo sapiens OX=9606 GN=TTC39B PE=1 SV=4 CANONICAL=Q5VTQ0-1" }, "isoforms": [ { "isoform_ac": "A0A8V8N5K5-1", "url": "", "sequence": { "sequence": "MALLGSRAELEADEDVFEDALETISMAKESMYHALGYSTIVVLQAVLTFEQQDIQNGISAMKDALQTCQKYRKKYTVVESFSSLLSRGSLEQLSEEEMHAEICYAECLLQKAALTFVQDENMINFIKGGLKIRTSYQIYKECLSILHEIQKNKLQQEFFYEFEGGVKLGSGAFNLMLSLLPARIIRLLEFIGFSGNRELGLLQLREGASGRSMRSALCCLTILAFHTYISLILGTGEVNVAEAERLLAPFLQQFPNGSLVLFYHARIELLKGNLEEAQEVFQKCISVQEEWKQFHHLCYWELMWINVFQQNWMQAYYYSDLLCKESKWSKATYVFLKAAILSMLPEEDVVATNENVVTLFRQVDSLKQRIAGKSIPTEKFAVRKARRYSASLPAPVKLILPALEMMYVWNGFSIVSKRKDLSENLLVTVEKAEAALQSQNFNSFSVDDECLVKLLKGCCLKNLQRPLQAELCYNHVVESEKLLKYDHYLVPFTLFELASLYKSQGEIDKAIKFLETARNNYKDYSLESRLHFRIQAALHLWRKPSSD", "length": 547, "header": "tr|A0A8V8N5K5-1|A0A8V8N5K5_HUMAN Computationally mapped isoform of Tetratricopeptide repeat domain 39B OS=Homo sapiens OX=9606 GN=TTC39B PE=1 SV=1 CANONICAL=Q5VTQ0-1" }, "locus": { "chromosome": "9", "start_pos": 15307125, "end_pos": 15172022, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000297615.10", "url": "https://www.ensembl.org/id/ENST00000297615.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000297615.6", "url": "https://www.ensembl.org/id/ENSP00000297615.6" } ] } }, { "isoform_ac": "A0A8V8NCV2-1", "url": "", "sequence": { "sequence": "MALLGSRAELEADEDVFEDALETISISSHSDMATSSLHFASCDTQQAPRQRGASTVSSSSSTKVDLKSGLEECAVALNLFLSNKFTDALELLRPWAKESMYHALGYSTIVVLQAVLTFEQQDIQNGISAMKDALQTCQKYRKKYTVVESFSSLLSRGSLEQLSEEEMHAEICYAECLLQKAALTFVQDENMINFIKGGLKIRTSYQIYKECLSILHEIQKNKLQQEFFYEFEGGVKLGSGAFNLMLSLLPARIIRLLEFIGFSGNRELGLLQLREGASGRSMRSALCCLTILAFHTYISLILGTGEVNVAEAERLLAPFLQQFPNVRSVFQSAQEVFQKCISVQEEWKQFHHLCYWELMWINVFQQNWMQAYYYSDLLCKESKWSKATYVFLKAAILSMLPEEDVVATNENVVTLFRQVDSLKQRIAGKSIPTEKFAVRKARRYSASLPAPVKLILPALEMMYVWNGFSIVSKRKDLSENLLVTVEKAEAALQSQNFNSFSVDDECLVKLLKGCCLKNLQRPLQAELCYNHVVESEKLLKYDHYLVPFTLFELASLYKSQGEIDKAIKFLETARNNYKDYSLESRLHFRIQAALHLWRKPSSD", "length": 603, "header": "tr|A0A8V8NCV2-1|A0A8V8NCV2_HUMAN Computationally mapped isoform of Tetratricopeptide repeat domain 39B OS=Homo sapiens OX=9606 GN=TTC39B PE=1 SV=1 CANONICAL=Q5VTQ0-1" }, "locus": { "chromosome": "9", "start_pos": 15307125, "end_pos": 15172022, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000380850.9", "url": "https://www.ensembl.org/id/ENST00000380850.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000370231.5", "url": "https://www.ensembl.org/id/ENSP00000370231.5" } ] } }, { "isoform_ac": "A0A8V8PNE1-1", "url": "", "sequence": { "sequence": "MALLGSRAELEADEDVFEDALETISISSHSDMATSSLHFASCDTQQAPRQRGASTVSSSSSTKVDLKSGLEECAVALNLFLSNKFTDALELLRPWAKESMYHALGYSTIVVLQAVLTFEQQDIQNGISAMKDALQTCQKYRKKYTVVESFSSLLSRGSLEQLSEEEMHAEICYAECLLQKAALTFVQDENMINFIKGGLKIRTSYQIYKECLSILHEIQKNKLQQEFFYEFEGGVKLGSGAFNLMLSLLPARIIRLLEFIGFSGNRELGLLQLREGASGRSMRSALCCLTILAFHTYISLILGTGEVNVAEAERLLAPFLQQFPNGSLVLFYHARIELLKGNLEEAQEVFQKCISVQEEWKQFHHLCYWELMWINVFQQNWMQAYYYSDLLCKESKWSKATYVFLKAAILSMLPEEDVVATNENVVTLFRQVDSLKQRIAGKSIPTEKFAVRKARRYSASLPAPVKLILPALEMMYVWNGFSIVSKRKDLSENLLVTVEKAEAALQSQNFNSFSVDDECLVKLLKGCCLKNLQRPLQAELCYNHVVESEKLLKYDHYLVPFTLFELASLYKSQGEIDKAIKFLETARNNYKDYSLESRLHFRIQAALHLWRKPSSD", "length": 616, "header": "tr|A0A8V8PNE1-1|A0A8V8PNE1_HUMAN Computationally mapped isoform of Tetratricopeptide repeat domain 39B OS=Homo sapiens OX=9606 GN=TTC39B PE=1 SV=1 CANONICAL=Q5VTQ0-1" }, "locus": { "chromosome": "9", "start_pos": 15307125, "end_pos": 15172022, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000512701.7", "url": "https://www.ensembl.org/id/ENST00000512701.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000422496.2", "url": "https://www.ensembl.org/id/ENSP00000422496.2" } ] } }, { "isoform_ac": "H0YAJ6-1", "url": "", "sequence": { "sequence": "MALLGSRAELEADEDVFEDALETISIWLKKKSGRREGKTSS", "length": 41, "header": "tr|H0YAJ6-1|H0YAJ6_HUMAN Computationally mapped isoform of Tetratricopeptide repeat domain 39B OS=Homo sapiens OX=9606 GN=TTC39B PE=4 SV=2 CANONICAL=Q5VTQ0-1" }, "locus": { "chromosome": "9", "start_pos": 15307125, "end_pos": 15249965, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000506891.1", "url": "https://www.ensembl.org/id/ENST00000506891.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000427314.2", "url": "https://www.ensembl.org/id/ENSP00000427314.2" } ] } }, { "isoform_ac": "Q5VTQ0-1", "url": "", "sequence": { "sequence": "MDAVLACRLRGRGNRVAALRPRPRPGGSAGPSPFALLCAGLSPEPRAGVGSEFPAWFLGGSSQRRNMALLGSRAELEADEDVFEDALETISISSHSDMATSSLHFASCDTQQAPRQRGASTVSSSSSTKVDLKSGLEECAVALNLFLSNKFTDALELLRPWAKESMYHALGYSTIVVLQAVLTFEQQDIQNGISAMKDALQTCQKYRKKYTVVESFSSLLSRGSLEQLSEEEMHAEICYAECLLQKAALTFVQDENMINFIKGGLKIRTSYQIYKECLSILHEIQKNKLQQEFFYEFEGGVKLGSGAFNLMLSLLPARIIRLLEFIGFSGNRELGLLQLREGASGRSMRSALCCLTILAFHTYISLILGTGEVNVAEAERLLAPFLQQFPNGSLVLFYHARIELLKGNLEEAQEVFQKCISVQEEWKQFHHLCYWELMWINVFQQNWMQAYYYSDLLCKESKWSKATYVFLKAAILSMLPEEDVVATNENVVTLFRQVDSLKQRIAGKSIPTEKFAVRKARRYSASLPAPVKLILPALEMMYVWNGFSIVSKRKDLSENLLVTVEKAEAALQSQNFNSFSVDDECLVKLLKGCCLKNLQRPLQAELCYNHVVESEKLLKYDHYLVPFTLFELASLYKSQGEIDKAIKFLETARNNYKDYSLESRLHFRIQAALHLWRKPSSD", "length": 682, "header": "sp|Q5VTQ0-1|TT39B_HUMAN Isoform 1 of Tetratricopeptide repeat protein 39B OS=Homo sapiens OX=9606 GN=TTC39B PE=1 SV=4 CANONICAL=Q5VTQ0-1" }, "locus": {} }, { "isoform_ac": "Q5VTQ0-2", "url": "", "sequence": { "sequence": "MATSSLHFASCDTQQAPRQRGASTVSSSSSTKVDLKSGLEECAVALNLFLSNKFTDALELLRPWAKESMYHALGYSTIVVLQAVLTFEQQDIQNGISAMKDALQTCQKYRKKYTVVESFSSLLSRGSLEQLSEEEMHAEICYAECLLQKAALTFVQDENMINFIKGGLKIRTSYQIYKECLSILHEIQKNKLQQEFFYEFEGGVKLGSGAFNLMLSLLPARIIRLLEFIGFSGNRELGLLQLREGASGRSMRSALCCLTILAFHTYISLILGTGEVNVAEAERLLAPFLQQFPNGSLVLFYHARIELLKGNLEEAQEVFQKCISVQEEWKQFHHLCYWELMWINVFQQNWMQAYYYSDLLCKESKWSKATYVFLKAAILSMLPEEDVVATNENVVTLFRQVDSLKQRIAGKSIPTEKFAVRKARRYSASLPAPVKLILPALEMMYVWNGFSIVSKRKDLSENLLVTVEKAEAALQSQNFNSFSVDDECLVKLLKGCCLKNLQRPLQAELCYNHVVESEKLLKYDHYLVPFTLFELASLYKSQGEIDKAIKFLETARNNYKDYSLESRLHFRIQAALHLWRKPSSD", "length": 585, "header": "sp|Q5VTQ0-2|TT39B_HUMAN Isoform 2 of Tetratricopeptide repeat protein 39B OS=Homo sapiens OX=9606 GN=TTC39B PE=1 SV=4 CANONICAL=Q5VTQ0-1" }, "locus": {} }, { "isoform_ac": "Q5VTQ0-3", "url": "", "sequence": { "sequence": "MDAVLACRLRGRGNRVAALRPRPRPGGSAGPSPFALLCAGLSPEPRAGVGSEFPAWFLGGSSQRRNMALLGSRAELEADEDVFEDALETISISSHSDMATSSLHFASCDTQQAPRQRGASTVSSSSSTKVDLKSGLEECAVALNLFLSNKFTDALELLRPWAKESMYHALGYSTIVVLQAVLTFEQQDIQNGISAMKDALQTCQKYRKKYTVVESFSSLLSRGSLEQLSEEEMHAEICYAECLLQKAALTFVQDENMINFIKGGLKIRTSYQIYKECLSILHEIQKNKLQQEFFYEFEGGVKLGSGAFNLMLSLLPARIIRLLEFIGFSGNRELGLLQLREGASGRSMRSALCCLTILAFHTYISLILGTGEVNVAEAERLLAPFLQQFPNVRSVFQSAQEVFQKCISVQEEWKQFHHLCYWELMWINVFQQNWMQAYYYSDLLCKESKWSKATYVFLKAAILSMLPEEDVVATNENVVTLFRQVDSLKQRIAGKSIPTEKFAVRKARRYSASLPAPVKLILPALEMMYVWNGFSIVSKRKDLSENLLVTVEKAEAALQSQNFNSFSVDDECLVKLLKGCCLKNLQRPLQAELCYNHVVESEKLLKYDHYLVPFTLFELASLYKSQGEIDKAIKFLETARNNYKDYSLESRLHFRIQAALHLWRKPSSD", "length": 669, "header": "sp|Q5VTQ0-3|TT39B_HUMAN Isoform 3 of Tetratricopeptide repeat protein 39B OS=Homo sapiens OX=9606 GN=TTC39B PE=1 SV=4 CANONICAL=Q5VTQ0-1" }, "locus": {} }, { "isoform_ac": "Q5VTQ0-4", "url": "", "sequence": { "sequence": "MDAVLACRLRGRGNRVAALRPRPRPGGSAGPSPFALLCAGLSPEPRAGVGSEFPAWFLGGSSQRRNMALLGSRAELEADEDVFEDALETISISSHSDMATSSLHFASCDTQQAPRQRGASTVSSSSSTKVDLKSGLEECAVALNLFLSNKFTDALELLRPWAKESMYHALGYSTIVVLQAVLTFEQQDIQNGISAMKDALQTCQKKKYTVVESFSSLLSRGSLEQLSEEEMHAEICYAECLLQKAALTFVQDENMINFIKGGLKIRTSYQIYKECLSILHEIQKNKLQQEFFYEFEGGVKLGSGAFNLMLSLLPARIIRLLEFIGFSGNRELGLLQLREGASGRSMRSALCCLTILAFHTYISLILGTGEVNVAEAERLLAPFLQQFPNGSLVLFYHARIELLKGNLEEAQEVFQKCISVQEEWKQFHHLCYWELMWINVFQQNWMQAYYYSDLLCKESKWSKATYVFLKAAILSMLPEEDVVATNENVVTLFRQVDSLKQRIAGKSIPTEKFAVRKARRYSASLPAPVKLILPALEMMYVWNGFSIVSKRKDLSENLLVTVEKAEAALQSQNFNSFSVDDECLVKLLKGCCLKNLQRPLQAELCYNHVVESEKLLKYDHYLVPFTLFELASLYKSQGEIDKAIKFLETARNNYKDYSLESRLHFRIQAALHLWRKPSSD", "length": 680, "header": "sp|Q5VTQ0-4|TT39B_HUMAN Isoform 4 of Tetratricopeptide repeat protein 39B OS=Homo sapiens OX=9606 GN=TTC39B PE=1 SV=4 CANONICAL=Q5VTQ0-1" }, "locus": {} }, { "isoform_ac": "Q5VTQ0-5", "url": "", "sequence": { "sequence": "MYHALGYSTIVVLQAVLTFEQQDIQNGISAMKDALQTCQKYRKKYTVVESFSSLLSRGSLEQLSEEEMHAEICYAECLLQKAALTFVQDENMINFIKGGLKIRTSYQIYKECLSILHEIQKNKLQQEFFYEFEGGVKLGSGAFNLMLSLLPARIIRLLEFIGFSGNRELGLLQLREGASGRSMRSALCCLTILAFHTYISLILGTGEVNVAEAERLLAPFLQQFPNGSLVLFYHARIELLKGNLEEAQEVFQKCISVQEEWKQFHHLCYWELMWINVFQQNWMQAYYYSDLLCKESKWSKATYVFLKAAILSMLPEEDVVATNENVVTLFRQVDSLKQRIAGKSIPTEKFAVRKARRYSASLPAPVKLILPALEMMYVWNGFSIVSKRKDLSENLLVTVEKAEAALQSQNFNSFSVDDECLVKLLKGCCLKNLQRPLQAELCYNHVVESEKLLKYDHYLVPFTLFELASLYKSQGEIDKAIKFLETARNNYKDYSLESRLHFRIQAALHLWRKPSSD", "length": 517, "header": "sp|Q5VTQ0-5|TT39B_HUMAN Isoform 5 of Tetratricopeptide repeat protein 39B OS=Homo sapiens OX=9606 GN=TTC39B PE=1 SV=4 CANONICAL=Q5VTQ0-1" }, "locus": { "chromosome": "9", "start_pos": 15211384, "end_pos": 15172022, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000507993.5", "url": "https://www.ensembl.org/id/ENST00000507993.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000423392.1", "url": "https://www.ensembl.org/id/ENSP00000423392.1" } ] } }, { "isoform_ac": "Q5VTQ0-6", "url": "", "sequence": { "sequence": "MDAVLACRLRGRGNRVAALRPRPRPGGSAGPSPFALLCAGLSPEPRAGVGSEFPAWFLGGSSQRRNMALLGSRAELEADEDVFEDALETISMAKESMYHALGYSTIVVLQAVLTFEQQDIQNGISAMKDALQTCQKYRKKYTVVESFSSLLSRGSLEQLSEEEMHAEICYAECLLQKAALTFVQDENMINFIKGGLKIRTSYQIYKECLSILHEIQKNKLQQEFFYEFEGGVKLGSGAFNLMLSLLPARIIRLLEFIGFSGNRELGLLQLREGASGRSMRSALCCLTILAFHTYISLILGTGEVNVAEAERLLAPFLQQFPNGSLVLFYHARIELLKGNLEEAQEVFQKCISVQEEWKQFHHLCYWELMWINVFQQNWMQAYYYSDLLCKESKWSKATYVFLKAAILSMLPEEDVVATNENVVTLFRQVDSLKQRIAGKSIPTEKFAVRKARRYSASLPAPVKLILPALEMMYVWNGFSIVSKRKDLSENLLVTVEKAEAALQSQNFNSFSVDDECLVKLLKGCCLKNLQRPLQAELCYNHVVESEKLLKYDHYLVPFTLFELASLYKSQGEIDKAIKFLETARNNYKDYSLESRLHFRIQAALHLWRKPSSD", "length": 613, "header": "sp|Q5VTQ0-6|TT39B_HUMAN Isoform 6 of Tetratricopeptide repeat protein 39B OS=Homo sapiens OX=9606 GN=TTC39B PE=1 SV=4 CANONICAL=Q5VTQ0-1" }, "locus": {} }, { "isoform_ac": "Q5VTQ0-7", "url": "", "sequence": { "sequence": "MTFLWGWAGVLHRQVDSLKQRIAGKSIPTEKFAVRKARRYSASLPAPVKLILPALEMMYVWNGFSIVSKRKDLSENLLVTVEKAEAALQSQNFNSFSVDDECLVKLLKGCCLKNLQRPLQAELCYNHVVESEKLLKYDHYLVPFTLFELASLYKSQGEIDKAIKFLETARNNYKDYSLESRLHFRIQAALHLWRKPSSD", "length": 199, "header": "sp|Q5VTQ0-7|TT39B_HUMAN Isoform 7 of Tetratricopeptide repeat protein 39B OS=Homo sapiens OX=9606 GN=TTC39B PE=1 SV=4 CANONICAL=Q5VTQ0-1" }, "locus": {} } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Common variants at 30 loci contribute to polygenic dyslipidemia.", "journal": "Nature genetics", "date": "2009", "authors": "Kathiresan S, Willer CJ, Peloso GM, Demissie S, Musunuru K, Schadt EE, Kaplan L, Bennett D, Li Y, Tanaka T, Voight BF, Bonnycastle LL, Jackson AU, Crawford G, Surti A, Guiducci C, Burtt NP, Parish S, Clarke R, Zelenika D, Kubalanza KA, Morken MA, Scott LJ, Stringham HM, Galan P, Swift AJ, Kuusisto J, Bergman RN, Sundvall J, Laakso M, Ferrucci L, Scheet P, Sanna S, Uda M, Yang Q, Lunetta KL, Dupuis J, de Bakker PI, O'Donnell CJ, Chambers JC, Kooner JS, Hercberg S, Meneton P, Lakatta EG, Scuteri A, Schlessinger D, Tuomilehto J, Collins FS, Groop L, Altshuler D, Collins R, Lathrop GM, Melander O, Salomaa V, Peltonen L, Orho-Melander M, Ordovas JM, Boehnke M, Abecasis GR, Mohlke KL, Cupples LA", "evidence": [ { "database": "RefSeq", "id": "NP_001161811", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161811" } ], "reference": [ { "type": "PubMed", "id": "19060906", "url": "https://glygen.org/publication/PubMed/19060906" } ] }, { "title": "Biological, clinical and population relevance of 95 loci for blood lipids.", "journal": "Nature", "date": "2010", "authors": "Teslovich TM, Musunuru K, Smith AV, Edmondson AC, Stylianou IM, Koseki M, Pirruccello JP, Ripatti S, Chasman DI, Willer CJ, Johansen CT, Fouchier SW, Isaacs A, Peloso GM, Barbalic M, Ricketts SL, Bis JC, Aulchenko YS, Thorleifsson G, Feitosa MF, Chambers J, Orho-Melander M, Melander O, Johnson T, Li X, Guo X, Li M, Shin Cho Y, Jin Go M, Jin Kim Y, Lee JY, Park T, Kim K, Sim X, Twee-Hee Ong R, Croteau-Chonka DC, Lange LA, Smith JD, Song K, Hua Zhao J, Yuan X, Luan J, Lamina C, Ziegler A, Zhang W, Zee RY, Wright AF, Witteman JC, Wilson JF, Willemsen G, Wichmann HE, Whitfield JB, Waterworth DM, Wareham NJ, Waeber G, Vollenweider P, Voight BF, Vitart V, Uitterlinden AG, Uda M, Tuomilehto J, Thompson JR, Tanaka T, Surakka I, Stringham HM, Spector TD, Soranzo N, Smit JH, Sinisalo J, Silander K, Sijbrands EJ, Scuteri A, Scott J, Schlessinger D, Sanna S, Salomaa V, Saharinen J, Sabatti C, Ruokonen A, Rudan I, Rose LM, Roberts R, Rieder M, Psaty BM, Pramstaller PP, Pichler I, Perola M, Penninx BW, Pedersen NL, Pattaro C, Parker AN, Pare G, Oostra BA, O'Donnell CJ, Nieminen MS, Nickerson DA, Montgomery GW, Meitinger T, McPherson R, McCarthy MI, McArdle W, Masson D, Martin NG, Marroni F, Mangino M, Magnusson PK, Lucas G, Luben R, Loos RJ, Lokki ML, Lettre G, Langenberg C, Launer LJ, Lakatta EG, Laaksonen R, Kyvik KO, Kronenberg F, Konig IR, Khaw KT, Kaprio J, Kaplan LM, Johansson A, Jarvelin MR, Janssens AC, Ingelsson E, Igl W, Kees Hovingh G, Hottenga JJ, Hofman A, Hicks AA, Hengstenberg C, Heid IM, Hayward C, Havulinna AS, Hastie ND, Harris TB, Haritunians T, Hall AS, Gyllensten U, Guiducci C, Groop LC, Gonzalez E, Gieger C, Freimer NB, Ferrucci L, Erdmann J, Elliott P, Ejebe KG, Doring A, Dominiczak AF, Demissie S, Deloukas P, de Geus EJ, de Faire U, Crawford G, Collins FS, Chen YD, Caulfield MJ, Campbell H, Burtt NP, Bonnycastle LL, Boomsma DI, Boekholdt SM, Bergman RN, Barroso I, Bandinelli S, Ballantyne CM, Assimes TL, Quertermous T, Altshuler D, Seielstad M, Wong TY, Tai ES, Feranil AB, Kuzawa CW, Adair LS, Taylor HA Jr, Borecki IB, Gabriel SB, Wilson JG, Holm H, Thorsteinsdottir U, Gudnason V, Krauss RM, Mohlke KL, Ordovas JM, Munroe PB, Kooner JS, Tall AR, Hegele RA, Kastelein JJ, Schadt EE, Rotter JI, Boerwinkle E, Strachan DP, Mooser V, Stefansson K, Reilly MP, Samani NJ, Schunkert H, Cupples LA, Sandhu MS, Ridker PM, Rader DJ, van Duijn CM, Peltonen L, Abecasis GR, Boehnke M, Kathiresan S", "evidence": [ { "database": "RefSeq", "id": "NP_001161811", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161811" } ], "reference": [ { "type": "PubMed", "id": "20686565", "url": "https://glygen.org/publication/PubMed/20686565" } ] }, { "title": "Lipids, obesity and gallbladder disease in women: insights from genetic studies using the cardiovascular gene-centric 50K SNP array.", "journal": "European journal of human genetics : EJHG", "date": "2016", "authors": "Rodriguez S, Gaunt TR, Guo Y, Zheng J, Barnes MR, Tang W, Danish F, Johnson A, Castillo BA, Li YR, Hakonarson H, Buxbaum SG, Palmer T, Tsai MY, Lange LA, Ebrahim S, Davey Smith G, Lawlor DA, Folsom AR, Hoogeveen R, Reiner A, Keating B, Day IN", "evidence": [ { "database": "RefSeq", "id": "NP_001161811", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161811" } ], "reference": [ { "type": "PubMed", "id": "25920552", "url": "https://glygen.org/publication/PubMed/25920552" } ] }, { "title": "Common variants upstream of KDR encoding VEGFR2 and in TTC39B associate with endometriosis.", "journal": "Nature communications", "date": "2016", "authors": "Steinthorsdottir V, Thorleifsson G, Aradottir K, Feenstra B, Sigurdsson A, Stefansdottir L, Kristinsdottir AM, Zink F, Halldorsson GH, Munk Nielsen N, Geller F, Melbye M, Gudbjartsson DF, Geirsson RT, Thorsteinsdottir U, Stefansson K", "evidence": [ { "database": "RefSeq", "id": "NP_001161811", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161811" } ], "reference": [ { "type": "PubMed", "id": "27453397", "url": "https://glygen.org/publication/PubMed/27453397" } ] } ], "pathway": [ { "id": "hsa:158219", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:158219", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZC96-1", "protein_name": "Tetratricopeptide repeat protein 39B", "gene_name": "Ttc39b", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MALVGSRVELDADEDIFEDALETISRSPSDMATSGFHFVPCDTKRTSRQLGAPAVGRAEGSSAKVDLKSGLEECAAALNLFLSNRFKDALELLRPWAKESMYHALGYSTIVVLQAVMTFEQQDIQNGISAMKDALQTCQKYRKKCTVVESFSSLLSRGSLEQLSEEEMHAEICYAECLLQKAALTFVQDENMINFIKGGLKIRTSYQIYKECLSILHVIQKNKEEQHFFYEFEGGVKLGTGAFNLMLSLLPARIIRLLEFIGFSGNRDLGLLQLREGASGSSMRSPLCCLTILAFHTYISLILGTGEVNVAEAESLLAPFLQQFPNGSLILFYHARIELLKGNAEKAQETFRKCISVQEEWKQFHHLCYWELMWIYIYQQNWMQAYYYSDLLCKESKWSKATYVFLKAAILSMLPEEEVAVTKENVVSLFRQVDGLKQRIAGKSLPTEKFAVRKARRYSPSSGVPGKLVLPALEMMYVWNGFSIVGKRKDLSENLLVTVEKAEEALQNQNFTDYSVDDECLVKLLKGCCLKNLQRPLQAELCFNHVLESEKLLKYDHYLVPFTLFELAFLYKSQGEIDKAIKVLETARNNYKDYSLESRLHFRIQAALHLWKKPSSD", "length": 617 }, "evidence": [ { "id": "45244213", "url": "http://www.informatics.jax.org/homology/45244213", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8BYY4-1", "protein_name": "Tetratricopeptide repeat protein 39B", "gene_name": "Ttc39b", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MALVGSRVELDADEDIFEDALETISRSPSDMATSGFHFVPCETKRTSRQLGASAMGRPEGSSAKVDLKSGLEECAEALNLFLSNKFKDALELLRPWAKESMYHALGYSTIVVLQAVMTFEQQDIQNGISAMKDALQTCQKYRKKCTVVESFSSLLSRGSLEQLSEEEMHAEICYAECLLQKAALTFVQDENMINFIKGGLKIRTSYQIYKECLSILHVIQKNKQEQHFFYEFEGGVKLGTGAFNLMLSLLPARIIRLLEFIGFSGNRDLGLLQLREGASGSSMRSPLCCLTILAFHTYISLILGTGEVNVVEAESLLAPFLQQFPNGSLILFYHARIELLKGNTEKAQETFRKCISVQEEWKQFHHLCYWELMWIHIYQQNWMQAYYYSDLLCKESKWSKATYVFLKAAILSMLPEEEVAATKENVVSLFRQVDGLKQRIAGKSLPTEKFAVRKARRYSPPSGVPGKLVMPALEMMYVWNGFSIVGKRKDLSENLLVTVEKAEEALQNQDFTDYSVDDECLVKLLKGCCLKNLERPLQAELCFNHVVESEKLLKYDHYLVPFTLFELAFLYKSQGEIDKAIKVLETARNNYKDYSLESRLHFRIQAALHLWKKPSTD", "length": 617 }, "evidence": [ { "id": "45244213", "url": "http://www.informatics.jax.org/homology/45244213", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 5, "go_terms": [ { "name": "regulation of cholesterol metabolic process", "id": "GO:0090181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090181", "evidence": [ { "database": "UniProtKB", "id": "Q5VTQ0", "url": "https://www.uniprot.org/uniprot/Q5VTQ0" } ], "pmid": "" }, { "name": "negative regulation of cholesterol storage", "id": "GO:0010887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010887", "evidence": [ { "database": "UniProtKB", "id": "Q5VTQ0", "url": "https://www.uniprot.org/uniprot/Q5VTQ0" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "Q5VTQ0", "url": "https://www.uniprot.org/uniprot/Q5VTQ0" } ], "pmid": "" }, { "name": "regulation of cholesterol efflux", "id": "GO:0010874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010874", "evidence": [ { "database": "UniProtKB", "id": "Q5VTQ0", "url": "https://www.uniprot.org/uniprot/Q5VTQ0" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": 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