{ "uniprot_canonical_ac": "O14972-1", "uniprot_ac": "O14972", "uniprot_id": "VP26C_HUMAN", "mass": { "chemical_mass": 33010.0, "monoisotopic_mass": 33010.0 }, "refseq": { "ac": "NP_001317947", "name": "vacuolar protein sorting-associated protein 26C isoform 2", "summary": "The region of chromosome 21 between genes CBR and ERG (CBR-ERG region), which spans 2.5 Mb on 21q22.2, has been defined by analysis of patients with partial trisomy 21. It contributes significantly to the pathogenesis of many characteristics of Down syndrome, including morphological features, hypotonia, and cognitive disability. The DSCR3 (Down syndrome critical region gene 3) gene is found in this region and is predictated to contain eight exons. DSCR3 is expressed in most tissues examined. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317947" }, "gene_names": [ { "name": "VPS26C", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O14972", "id": "O14972" }, { "name": "DCRA; DSCR3; DSCRA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317947", "id": "NP_001317947" }, { "name": "DCRA", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14972", "id": "O14972" }, { "name": "DSCR3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14972", "id": "O14972" }, { "name": "DSCRA", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14972", "id": "O14972" }, { "name": "VPS26C", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317947", "id": "NP_001317947" } ], "protein_names": [ { "name": "Vacuolar protein sorting-associated protein 26C", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O14972" }, { "name": "Down syndrome critical region protein 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14972" }, { "name": "Down syndrome critical region protein A; Down syndrome critical region protein 3; Down syndrome critical region gene 3; Down syndrome critical region 3; DSCR3 arrestin fold containing; vacuolar protein sorting-associated protein 26C", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317947", "id": "NP_001317947" }, { "name": "Down syndrome critical region protein A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14972" }, { "name": "vacuolar protein sorting-associated protein 26C isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317947", "id": "NP_001317947" } ], "function": [ { "annotation": "(Microbial infection) The heterotrimeric retriever complex, in collaboration with the CCC complex, mediates the exit of human papillomavirus to the cell surface.", "evidence": [ { "database": "UniProtKB", "id": "O14972", "url": "https://www.uniprot.org/uniprot/O14972#function" }, { "database": "PubMed", "id": "28892079", "url": "https://glygen.org/publication/PubMed/28892079" } ] }, { "annotation": "Acts as a component of the retriever complex. The retriever complex is a heterotrimeric complex related to retromer cargo-selective complex (CSC) and essential for retromer-independent retrieval and recycling of numerous cargos such as integrin alpha-5/beta-1 (ITGA5:ITGB1) (PubMed:28892079). The recruitment of the retriever complex to the endosomal membrane involves CCC and WASH complexes (PubMed:28892079). In the endosomes, drives the retriever and recycling of NxxY-motif-containing cargo proteins by coupling to SNX17, a cargo essential for the homeostatic maintenance of numerous cell surface proteins associated with processes that include cell migration, cell adhesion, nutrient supply and cell signaling (PubMed:28892079).", "evidence": [ { "database": "UniProtKB", "id": "O14972", "url": "https://www.uniprot.org/uniprot/O14972#function" }, { "database": "PubMed", "id": "28892079", "url": "https://glygen.org/publication/PubMed/28892079" } ] }, { "annotation": "The region of chromosome 21 between genes CBR and ERG (CBR-ERG region), which spans 2.5 Mb on 21q22.2, has been defined by analysis of patients with partial trisomy 21. It contributes significantly to the pathogenesis of many characteristics of Down syndrome, including morphological features, hypotonia, and cognitive disability. The DSCR3 (Down syndrome critical region gene 3) gene is found in this region and is predictated to contain eight exons. DSCR3 is expressed in most tissues examined. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001317947", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317947" } ] }, { "annotation": "These studies illustrate that GFP-HsDSCR3 is able to complement the vps26c root hair phenotype in Arabidopsis, indicating a deep conservation of cellular function for this large retromer subunit across plant and animal kingdoms.", "evidence": [ { "database": "RefSeq", "id": "NP_001317947", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317947" }, { "database": "PubMed", "id": "29495075", "url": "https://glygen.org/publication/PubMed/29495075" } ] }, { "annotation": "VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features.", "evidence": [ { "database": "RefSeq", "id": "NP_001317947", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317947" }, { "database": "PubMed", "id": "31845315", "url": "https://glygen.org/publication/PubMed/31845315" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "84.26", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000157538", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157538" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "75.56", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000157538", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157538" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "83.31", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000157538", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157538" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "57.75", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000157538", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157538" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "93.07", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000157538", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157538" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "93.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000157538", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157538" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "71.06", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000157538", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157538" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "87.91", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000157538", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157538" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "86.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000157538", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157538" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "65.83", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000157538", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157538" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "86.77", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000157538", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157538" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "86.49", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000157538", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157538" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "87.95", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000157538", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157538" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O14972", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14972" } ], "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, 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"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", 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"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": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", 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"MGTALDIKIKRANKVYHAGPQKGKFTPSPVDFTITPETLQNVKERALLPKFLLRGHLNSTNCVITQPLTGELVVESSEAAIRSVELQLVRVETCGCAEGYARDATEIQNIQIADGDVCRGLSVPIYMVFPRLFTCPTLETTNFKVEFEVNIVVLLHPDHLITENFPLKLCRI", "length": 172, "header": "tr|A8MY26-1|A8MY26_HUMAN Computationally mapped isoform of cDNA FLJ53689, highly similar to Down syndrome critical region protein 3 OS=Homo sapiens OX=9606 GN=VPS26C PE=1 SV=1 CANONICAL=O14972-1" }, "locus": { "chromosome": "21", "start_pos": 37267294, "end_pos": 37225547, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000399001.5", "url": "https://www.ensembl.org/id/ENST00000399001.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000381967.1", "url": "https://www.ensembl.org/id/ENSP00000381967.1" } ] } }, { "isoform_ac": "O14972-1", "url": "", "sequence": { "sequence": "MGTALDIKIKRANKVYHAGEVLSGVVVISSKDSVQHQGVSLTMEGTVNLQLSAKSVGVFEAFYNSVKPIQIINSTIEMVKPGKFPSGKTEIPFEFPLHLKGNKVLYETYHGVFVNIQYTLRCDMKRSLLAKDLTKTCEFIVHSAPQKGKFTPSPVDFTITPETLQNVKERALLPKFLLRGHLNSTNCVITQPLTGELVVESSEAAIRSVELQLVRVETCGCAEGYARDATEIQNIQIADGDVCRGLSVPIYMVFPRLFTCPTLETTNFKVEFEVNIVVLLHPDHLITENFPLKLCRI", "length": 297, "header": "sp|O14972-1|VP26C_HUMAN Isoform 1 of Vacuolar protein sorting-associated protein 26C OS=Homo sapiens OX=9606 GN=VPS26C PE=1 SV=1 CANONICAL=O14972-1" }, "locus": { "chromosome": "21", "start_pos": 37267294, "end_pos": 37225547, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000309117.11", "url": "https://www.ensembl.org/id/ENST00000309117.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000311399.6", "url": "https://www.ensembl.org/id/ENSP00000311399.6" } ] } }, { "isoform_ac": "O14972-2", "url": "", "sequence": { "sequence": "MGTALDIKIKRANKVYHAGEVLSGVVVISSKDSVQHQGVSLTMEGTVNLQLSAKSVGVFEAFYNSVKPIQIINSTIEMVKPGKFPSGKTEIPFEFPLHLKGNKVLYETYHGVFVNIQPQKGKFTPSPVDFTITPETLQNVKERALLPKFLLRGHLNSTNCVITQPLTGELVVESSEAAIRSVELQLVRVETCGCAEGYARDATEIQNIQIADGDVCRGLSVPIYMVFPRLFTCPTLETTNFKVEFEVNIVVLLHPDHLITENFPLKLCRI", "length": 270, "header": "sp|O14972-2|VP26C_HUMAN Isoform 2 of Vacuolar protein sorting-associated protein 26C OS=Homo sapiens OX=9606 GN=VPS26C PE=1 SV=1 CANONICAL=O14972-1" }, "locus": { "chromosome": "21", "start_pos": 37267294, "end_pos": 37225547, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000476950.5", "url": "https://www.ensembl.org/id/ENST00000476950.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000419496.1", "url": "https://www.ensembl.org/id/ENSP00000419496.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Retriever is a multiprotein complex for retromer-independent endosomal cargo recycling.", "journal": "Nature cell biology", "date": "2017", "authors": "McNally KE, Faulkner R, Steinberg F, Gallon M, Ghai R, Pim D, Langton P, Pearson N, Danson CM, Nagele H, Morris LL, Singla A, Overlee BL, Heesom KJ, Sessions R, Banks L, Collins BM, Berger I, Billadeau DD, Burstein E, Cullen PJ", "evidence": [ { "database": "UniProtKB", "id": "O14972", "url": "https://www.uniprot.org/uniprot/O14972" } ], "reference": [ { "type": "PubMed", "id": "28892079", "url": "https://glygen.org/publication/PubMed/28892079" } ] }, { "title": "Vacuolar Protein Sorting 26C encodes an evolutionarily conserved large retromer subunit in eukaryotes that is important for root hair growth in Arabidopsis thaliana.", "journal": "The Plant journal : for cell and molecular biology", "date": "2018", "authors": "Jha SG, Larson ER, Humble J, Domozych DS, Barrington DS, Tierney ML", "evidence": [ { "database": "RefSeq", "id": "NP_001317947", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317947" } ], "reference": [ { "type": "PubMed", "id": "29495075", "url": "https://glygen.org/publication/PubMed/29495075" } ] }, { "title": "VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features.", "journal": "Clinical genetics", "date": "2020", "authors": "Beetz C, Ameziane N, Kdissa A, Karageorgou V, Bauer P, Suleiman J, Sutton VR, El-Hattab AW", "evidence": [ { "database": "RefSeq", "id": "NP_001317947", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317947" } ], "reference": [ { "type": "PubMed", "id": "31845315", "url": "https://glygen.org/publication/PubMed/31845315" } ] }, { "title": "Isolation of a novel human gene from the Down syndrome critical region of chromosome 21q22.2.", "journal": "J. Biochem.", "date": "1997", "authors": "Nakamura A, Hattori M, Sakaki Y", "evidence": [ { "database": "UniProtKB", "id": "O14972", "url": "https://www.uniprot.org/uniprot/O14972" } ], "reference": [ { "type": "PubMed", "id": "9399594", "url": "https://glygen.org/publication/PubMed/9399594" } ] } ], "pathway": [ { "id": "hsa:10311", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10311", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "E9PU42-1", "protein_name": "VPS26 endosomal protein sorting factor C", "gene_name": "Vps26c", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MGTTLDIKIKRANKVYHAGEMLSGVVVISSKDSVQHQGVSLTMEGTVNLQLSAKSVGVFEAFYNSVKPIQIINSTIDVLKPGKIPSGKTEVPFEFPLLVKGSKVLYETYHGVFVNIQYTLRCDMRRSLLAKDLTKTCEFIVHSAPQKGKLTPSPVDFTITPETLQNVKERASLPKFLIRGHLNSTNCAITQPLTGELVVEHSDAAIRSIELQLVRVETCGCAEGYARDATEIQNIQIADGDICRNLSVPLYMVFPRLFTCPTLETTNFKVEFEVNVVVLLHADHLITENFPLKLCRT", "length": 297 }, "evidence": [ { "id": "45927758", "url": "http://www.informatics.jax.org/homology/45927758", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "O35075-1", "protein_name": "Vacuolar protein sorting-associated protein 26C", "gene_name": "Vps26c", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MGTTLDIKIKRANKVYHAGEMLSGVVVISSKDSVQHQGVSLTMEGTVNLQLSAKSVGVFEAFYNSVKPIQIINSTIDVLKPGKIPSGKTEVPFEFPLLVKGSKVLYETYHGVFVNIQYTLRCDMRRSLLAKDLTKTCEFIVHSAPQKGKLTPSPVDFTITPETLQNVKERASLPKFFIRGHLNSTNCAITQPLTGELVVEHSDAAIRSIELQLVRVETCGCAEGYARDATEIQNIQIADGDICRNLSVPLYMVFPRLFTCPTLETTNFKVEFEVNVVVLLHADHLITENFPLKLCRT", "length": 297 }, "evidence": [ { "id": "45927758", "url": "http://www.informatics.jax.org/homology/45927758", "database": "MGI" }, { "id": "O14972", "url": "https://omabrowser.org/oma/group/O14972/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9VPC3-1", "protein_name": "Uncharacterized protein, isoform D", "gene_name": "DSCR3", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MSSLLFDIKLKRENKVYHENDMLLGCVQFQCAQETKHEGIILYLEGIVNLQLSAKTVGLFDAFYNSVKPINLLQNSLELSAPGKLSAGRSEFHFELPLVCKKEPRILYETYHGVFINVNYQLTCTVKRNFLGKATTKIQQFCVQYKPVPLSEDSKKVVPFSLSPDSLQKNASAKERLSMPRFLITGRLDRSEFCVTTPITGSITVQHTEAAIKSIEMQLVRVETCGCDEGYSKDATEIQTIQIADGNVLPKLELPIHMVLPRLFTCPTLLTKNFKIEFELNLIVVFKEDYTVSENFKIVLKRSTGPLPSKVTTAGR", "length": 316 }, "evidence": [ { "id": "O14972", "url": "https://omabrowser.org/oma/group/O14972/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "O14972", "url": "https://www.uniprot.org/uniprot/O14972" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O14972", "url": "https://www.uniprot.org/uniprot/O14972" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "O14972", "url": "https://www.uniprot.org/uniprot/O14972" } ], "pmid": "" }, { "name": "endocytic recycling", "id": "GO:0032456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032456", "evidence": [ { "database": "UniProtKB", "id": "O14972", "url": "https://www.uniprot.org/uniprot/O14972" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 183, "end_pos": 185, "annotation": "n_glycosylation_sequon" }, { "start_pos": 73, "end_pos": 75, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 183, "end_pos": 185 }, { "start_pos": 73, "end_pos": 75 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }