{ "uniprot_canonical_ac": "Q9H9C1-1", "uniprot_ac": "Q9H9C1", "uniprot_id": "SPE39_HUMAN", "mass": { "chemical_mass": 57005.0, "monoisotopic_mass": 57005.0 }, "refseq": { "ac": "NP_001180243", "name": "spermatogenesis-defective protein 39 homolog isoform 1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180243" }, "gene_names": [ { "name": "VIPAS39", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9H9C1", "id": "Q9H9C1" }, { "name": "C14orf133; hSPE-39; SPE-39; SPE39; VIPAR; VPS16B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180243", "id": "NP_001180243" }, { "name": "C14orf133", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9H9C1", "id": "Q9H9C1" }, { "name": "SPE39", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9H9C1", "id": "Q9H9C1" }, { "name": "VIPAR", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9H9C1", "id": "Q9H9C1" }, { "name": "VIPAS39", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180243", "id": "NP_001180243" } ], "protein_names": [ { "name": "Spermatogenesis-defective protein 39 homolog", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9H9C1" }, { "name": "VPS33B-interacting protein in apical-basolateral polarity regulator", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9H9C1" }, { "name": "VPS33B-interacting protein in polarity and apical restriction", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9H9C1" }, { "name": "VPS33B-interacting protein involved in polarity and apical protein restriction; spermatogenesis-defective protein 39 homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180243", "id": "NP_001180243" }, { "name": "hSPE-39", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9H9C1" }, { "name": "spermatogenesis-defective protein 39 homolog isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180243", "id": "NP_001180243" } ], "function": [ { "annotation": "Mechanism of platelet alpha-granule biogenesis: study of cargo transport and the VPS33B-VPS16B complex in a model system.", "evidence": [ { "database": "RefSeq", "id": "NP_001180243", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180243" }, { "database": "PubMed", "id": "31501156", "url": "https://glygen.org/publication/PubMed/31501156" } ] }, { "annotation": "Proposed to be involved in endosomal maturation implicating in part VPS33B. In epithelial cells, the VPS33B:VIPAS39 complex may play a role in the apical RAB11A-dependent recycling pathway and in the maintenance of the apical-basolateral polarity (PubMed:20190753). May play a role in lysosomal trafficking, probably via association with the core HOPS complex in a discrete population of endosomes; the functions seems to be independent of VPS33B (PubMed:19109425). May play a role in vesicular trafficking during spermatogenesis (By similarity). May be involved in direct or indirect transcriptional regulation of E-cadherin (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "Q9H9C1", "url": "https://www.uniprot.org/uniprot/Q9H9C1#function" }, { "database": "UniProtKB", "id": "Q23288", "url": "https://www.uniprot.org/uniprot/Q23288#function" }, { "database": "PubMed", "id": "20190753", "url": "https://glygen.org/publication/PubMed/20190753" }, { "database": "PubMed", "id": "19109425", "url": "https://glygen.org/publication/PubMed/19109425" } ] }, { "annotation": "SPE-39 homologues are present in RAB5-, RAB7-, and RAB11-positive endosomes where they play a conserved role in lysosomal delivery and probably function via their interaction with the core HOPS complex.", "evidence": [ { "database": "RefSeq", "id": "NP_001180243", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180243" }, { "database": "PubMed", "id": "19109425", "url": "https://glygen.org/publication/PubMed/19109425" } ] }, { "annotation": "The Rab-binding module of FERARI (factors for endosome recycling and Rab interactions) consists of Rab11FIP5 and rabenosyn-5, while the SNARE-interacting module comprises VPS45 and VIPAS39.", "evidence": [ { "database": "RefSeq", "id": "NP_001180243", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180243" }, { "database": "PubMed", "id": "31988382", "url": "https://glygen.org/publication/PubMed/31988382" } ] }, { "annotation": "The Sec1-Munc18 protein VPS33B forms a uniquely bidirectional complex with VPS16B.", "evidence": [ { "database": "RefSeq", "id": "NP_001180243", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180243" }, { "database": "PubMed", "id": "37062417", "url": "https://glygen.org/publication/PubMed/37062417" } ] } ], "disease": [ { "disease_id": "DOID:0111354", "recommended_name": { "id": "DOID:0111354", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111354", "name": "arthrogryposis, renal dysfunction, and cholestasis 2", "description": "An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VIPAS39 on 14q24.3." }, "synonyms": [ { "id": "DOID:0111354", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111354", "name": "ARCS2", "description": "" }, { "id": "MONDO:0013255", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013255", "name": "arthrogryposis, renal dysfunction, and cholestasis 2", "description": "Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VIPAS39 gene." }, { "id": "MONDO:0013255", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013255", "name": "VIPAS39 arthrogryposis-renal dysfunction-cholestasis syndrome", "description": "" }, { "id": "MONDO:0013255", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013255", "name": "arthrogryposis, renal dysfunction, and cholestasis 2", "description": "" }, { "id": "MONDO:0013255", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013255", "name": "arthrogryposis, renal dysfunction, and cholestasis type 2", "description": "" }, { "id": "MONDO:0013255", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013255", "name": "arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VIPAS39", "description": "" }, { "id": "MONDO:0013255", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013255", "name": "ARCS2", "description": "" }, { "id": "MIM:613404", "resource": "MIM", "url": "https://www.omim.org/entry/613404", "name": "Arthrogryposis, renal dysfunction and cholestasis syndrome 2", "description": "Arthrogryposis, renal dysfunction and cholestasis syndrome 2" } ], "evidence": [ { "id": "613404", "database": "MIM", "url": "https://www.omim.org/entry/613404" } ] } ], "snv": [ { "evidence": [ { "id": "Q9H9C1", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9H9C1" } ], "glycoeffect": [], "start_pos": 460, "end_pos": 460, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "14", "chr_pos": "77428453", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R460", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [ { "start_pos": 213, "end_pos": 213, "sequence_org": "L", "sequence_mut": "P", "comment": "Disrupts endodsomal colocalization with VPS33B.", "evidence": [ { "database": "UniProtKB", "id": "Q9H9C1", "url": "https://www.uniprot.org/uniprot/Q9H9C1" }, { "database": "PubMed", "id": "22753090", "url": "https://glygen.org/publication/PubMed/22753090" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "81.16", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151445", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151445" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "76.63", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000151445", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151445" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "78.17", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151445", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151445" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000151445", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151445" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "88.77", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151445", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151445" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "86.95", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151445", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151445" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "64.21", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000151445", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151445" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "83.57", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151445", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151445" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "83.33", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151445", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151445" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "60.66", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000151445", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151445" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "82.51", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151445", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151445" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "84.13", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151445", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151445" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "84.04", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151445", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151445" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q9H9C1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9H9C1" } ], "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", 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"" }, { "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, 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"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", 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"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": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "Q9H9C1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9H9C1" } ], "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": 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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 cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "Q9H9C1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9H9C1" } ], "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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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H9C1", "url": "https://www.uniprot.org/uniprot/Q9H9C1" } ], "common_name": "Human" } ], "gene": [ { "name": "VIPAS39", "url": "https://www.uniprot.org/uniprot/Q9H9C1", "locus": { "chromosome": "14", "start_pos": 77426675, "end_pos": 77457952, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000151445", "url": "https://www.ensembl.org/id/ENSG00000151445" } ] } } ], "crossref": [ { "id": "ENSG00000151445", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151445", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "Q9H9C1", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9H9C1", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "VIPAS39", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=VIPAS39", "database": "GeneCards", 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"https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:63894", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "613401", "url": "http://www.omim.org/entry/613401", "database": "MIM", "categories": [ "Other" ] }, { "id": "613404", "url": "http://www.omim.org/entry/613404", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_Q9H9C1", "url": "https://www.nextprot.org/entry/NX_Q9H9C1", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "Q9H9C1", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9H9C1", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "YWNRSSR", "url": "https://omabrowser.org/oma/group/YWNRSSR/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2945298at2759", "url": "http://www.orthodb.org/?query=2945298at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR13364", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13364", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR13364:SF6", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13364:SF6", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF04840", "url": "http://pfam.xfam.org/family/PF04840", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q9H9C1", "url": "https://pharos.nih.gov/targets/Q9H9C1", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q9H9C1", "url": "http://purl.obolibrary.org/obo/PR_Q9H9C1", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001180243", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180243", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "G3V4K3", "url": "https://www.uniprot.org/uniprot/G3V4K3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V4K3-1", "url": "https://www.uniprot.org/uniprot/G3V4K3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V549", "url": "https://www.uniprot.org/uniprot/G3V549", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V549-1", "url": "https://www.uniprot.org/uniprot/G3V549-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9H9C1", "url": "https://www.uniprot.org/uniprot/Q9H9C1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9H9C1-1", "url": "https://www.uniprot.org/uniprot/Q9H9C1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9H9C1-2", "url": "https://www.uniprot.org/uniprot/Q9H9C1-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MNRTKGDEEEYWNSSKFKAFTFDDEDDELSQLKESKRAVNSLRDFVDDDDDDDLERVSWSGEPVGSISWSIRETAGNSGSTHEGREQLKSRNSFSSYAQLPKPTSTYSLSSFFRGRTRPGSFQSLSDALSDTPAKSYAPELGRPKGEYRDYSNDWSPSDTVRRLRKGKVCSLERFRSLQDKLQLLEEAVSMHDGNVITAVLIFLKRTLSKEILFRELEVRQVALRHLIHFLKEIGDQKLLLDLFRFLDRTEELALSHYREHLNIQDPDKRKEFLKTCVGLPFSAEDSAHIQDHYTLLERQIIIEANDRHLESAGQTEIFRKHPRKASILNMPLVTTLFYSCFYHYTEAEGTFSSPVNLKKTFKIPDKQYVLTALAARAKLRAWNDVDALFTTKNWLGYTKKRAPIGFHRVVEILHKNNAPVQILQEYVNLVEDVDTKLNLATKFKCHDVVIDTYRDLKDRQQLLAYRSKVDKGSAEEEKIDALLSSSQIRWKN", "length": 493, "header": "sp|Q9H9C1-1|SPE39_HUMAN Isoform 1 of Spermatogenesis-defective protein 39 homolog OS=Homo sapiens OX=9606 GN=VIPAS39 PE=1 SV=1 CANONICAL=Q9H9C1-1" }, "isoforms": [ { "isoform_ac": "G3V4K3-1", "url": "", "sequence": { "sequence": "MTTGLILFFQSGRPLGAGVRLGLGLRMNRTKGDEEEYWNSSKFKAFTFDDEDDELSQLKESKRAVNSLRDFVDDDDDDDLERVSWSGEPVGSISWSIRETAGNSGSTHEGREQLKSRNSFSSYAQLPKPTSTYSLSSFFRGRTRPGSFQSLSDALSDTPAKSYAPELGRPKGEYRDYSNDWSPSDTVRRLRKGKVCSLERFRSLQDKLQLLEEAVSMHDGNVITAVLIFLKRTLSKEILFRELEVRQVALRHLIHFLKEIGDQKLLLDLFRFLDRTEELALSHYREHLNIQDPDKRKEFLKTCVGLPFSAEDSAHIQDHYTLLERQIIIEANDRHLESAGQTEIFRKHPRKASILNMPLVTTLFYSCFYHYTEAEGTFSSPVNLKKTFKIPDKQYVLTALAARAKLRAWNDVDALFTTKNWLGYTKKRAPIGFHRVVEILHKNNAPVQILQEYVNLVEDVDTKLNLATKFKCHDVVIDTYRDLKDRQQLLAYRSKVDKGSAEEEKIDALLSSSQIRWKN", "length": 519, "header": "tr|G3V4K3-1|SPE39_HUMAN Computationally mapped isoform of Spermatogenesis-defective protein 39 homolog OS=Homo sapiens OX=9606 GN=VIPAS39 PE=1 SV=1 CANONICAL=Q9H9C1-1" }, "locus": { "chromosome": "14", "start_pos": 77457395, "end_pos": 77427619, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000556412.4", "url": "https://www.ensembl.org/id/ENST00000556412.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000451857.1", "url": "https://www.ensembl.org/id/ENSP00000451857.1" } ] } }, { "isoform_ac": "G3V549-1", "url": "", "sequence": { "sequence": "MNRTKGDEEEYWNSSKFKAFTFDDEDDELSQLKESKRAVNSLRDF", "length": 45, "header": "tr|G3V549-1|SPE39_HUMAN Computationally mapped isoform of Spermatogenesis-defective protein 39 homolog OS=Homo sapiens OX=9606 GN=VIPAS39 PE=1 SV=1 CANONICAL=Q9H9C1-1" }, "locus": { "chromosome": "14", "start_pos": 77454102, "end_pos": 77453360, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000557466.1", "url": "https://www.ensembl.org/id/ENST00000557466.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000452176.1", "url": "https://www.ensembl.org/id/ENSP00000452176.1" } ] } }, { "isoform_ac": "Q9H9C1-1", "url": "", "sequence": { "sequence": "MNRTKGDEEEYWNSSKFKAFTFDDEDDELSQLKESKRAVNSLRDFVDDDDDDDLERVSWSGEPVGSISWSIRETAGNSGSTHEGREQLKSRNSFSSYAQLPKPTSTYSLSSFFRGRTRPGSFQSLSDALSDTPAKSYAPELGRPKGEYRDYSNDWSPSDTVRRLRKGKVCSLERFRSLQDKLQLLEEAVSMHDGNVITAVLIFLKRTLSKEILFRELEVRQVALRHLIHFLKEIGDQKLLLDLFRFLDRTEELALSHYREHLNIQDPDKRKEFLKTCVGLPFSAEDSAHIQDHYTLLERQIIIEANDRHLESAGQTEIFRKHPRKASILNMPLVTTLFYSCFYHYTEAEGTFSSPVNLKKTFKIPDKQYVLTALAARAKLRAWNDVDALFTTKNWLGYTKKRAPIGFHRVVEILHKNNAPVQILQEYVNLVEDVDTKLNLATKFKCHDVVIDTYRDLKDRQQLLAYRSKVDKGSAEEEKIDALLSSSQIRWKN", "length": 493, "header": "sp|Q9H9C1-1|SPE39_HUMAN Isoform 1 of Spermatogenesis-defective protein 39 homolog OS=Homo sapiens OX=9606 GN=VIPAS39 PE=1 SV=1 CANONICAL=Q9H9C1-1" }, "locus": { "chromosome": "14", "start_pos": 77454102, "end_pos": 77427619, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000343765.6", "url": "https://www.ensembl.org/id/ENST00000343765.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000339122.2", "url": "https://www.ensembl.org/id/ENSP00000339122.2" } ] } }, { "isoform_ac": "Q9H9C1-2", "url": "", "sequence": { "sequence": "MNRTKGDEEEYWNSSKFKAFTFDDEDDELSQLKESKRAVNSLRDFVDDDDDDDLERVSWSGEPVGSRTRPGSFQSLSDALSDTPAKSYAPELGRPKGEYRDYSNDWSPSDTVRRLRKGKVCSLERFRSLQDKLQLLEEAVSMHDGNVITAVLIFLKRTLSKEILFRELEVRQVALRHLIHFLKEIGDQKLLLDLFRFLDRTEELALSHYREHLNIQDPDKRKEFLKTCVGLPFSAEDSAHIQDHYTLLERQIIIEANDRHLESAGQTEIFRKHPRKASILNMPLVTTLFYSCFYHYTEAEGTFSSPVNLKKTFKIPDKQYVLTALAARAKLRAWNDVDALFTTKNWLGYTKKRAPIGFHRVVEILHKNNAPVQILQEYVNLVEDVDTKLNLATKFKCHDVVIDTYRDLKDRQQLLAYRSKVDKGSAEEEKIDALLSSSQIRWKN", "length": 444, "header": "sp|Q9H9C1-2|SPE39_HUMAN Isoform 2 of Spermatogenesis-defective protein 39 homolog OS=Homo sapiens OX=9606 GN=VIPAS39 PE=1 SV=1 CANONICAL=Q9H9C1-1" }, "locus": { "chromosome": "14", "start_pos": 77454102, "end_pos": 77427619, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000327028.8", "url": "https://www.ensembl.org/id/ENST00000327028.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000313098.5", "url": "https://www.ensembl.org/id/ENSP00000313098.5" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "Q9H9C1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9H9C1" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [ { "start_pos": 117, "end_pos": 117, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q9H9C1", "url": "https://www.uniprot.org/uniprot/Q9H9C1" }, { "database": "iPTMnet", "id": "Q9H9C1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H9C1" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "Q9H9C1", "url": "http://phospho.elm.eu.org/byAccession/Q9H9C1.html" } ], "site_lbl": "Thr117" }, { "start_pos": 11, "end_pos": 11, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9H9C1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H9C1" }, { "database": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" }, { "database": "PubMed", "id": "19901323", "url": "https://glygen.org/publication/PubMed/19901323" }, { "database": "phospho.ELM", "id": "Q9H9C1", "url": "http://phospho.elm.eu.org/byAccession/Q9H9C1.html" } ], "site_lbl": "Tyr11" }, { "start_pos": 121, "end_pos": 121, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9H9C1", "url": "https://www.uniprot.org/uniprot/Q9H9C1" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "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": "Q9H9C1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H9C1" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" }, { "database": "phospho.ELM", "id": "Q9H9C1", "url": "http://phospho.elm.eu.org/byAccession/Q9H9C1.html" } ], "site_lbl": "Ser121" }, { "start_pos": 124, "end_pos": 124, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9H9C1", "url": "https://www.uniprot.org/uniprot/Q9H9C1" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9H9C1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H9C1" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" }, { "database": "phospho.ELM", "id": "Q9H9C1", "url": "http://phospho.elm.eu.org/byAccession/Q9H9C1.html" } ], "site_lbl": "Ser124" }, { "start_pos": 126, "end_pos": 126, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9H9C1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H9C1" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Ser126" }, { "start_pos": 130, "end_pos": 130, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9H9C1", "url": "https://www.uniprot.org/uniprot/Q9H9C1" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9H9C1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H9C1" } ], "site_lbl": "Ser130" }, { "start_pos": 132, "end_pos": 132, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q9H9C1", "url": "https://www.uniprot.org/uniprot/Q9H9C1" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "Q9H9C1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H9C1" }, { "database": "phospho.ELM", "id": "Q9H9C1", "url": "http://phospho.elm.eu.org/byAccession/Q9H9C1.html" } ], "site_lbl": "Thr132" }, { "start_pos": 21, "end_pos": 21, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q9H9C1", "url": "https://www.uniprot.org/uniprot/Q9H9C1" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9H9C1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H9C1" }, { "database": "PubMed", "id": "15345747", "url": "https://glygen.org/publication/PubMed/15345747" } ], "site_lbl": "Thr21" }, { "start_pos": 93, "end_pos": 93, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9H9C1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H9C1" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ], "site_lbl": "Ser93" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Phosphoproteomic analysis of the developing mouse brain.", "journal": "Molecular & cellular proteomics : MCP", "date": "2004", "authors": "Ballif BA, Villen J, Beausoleil SA, Schwartz D, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "Q9H9C1-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H9C1-1" } ], "reference": [ { "type": "PubMed", "id": "15345747", "url": "https://glygen.org/publication/PubMed/15345747" } ] }, { "title": "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.", "journal": "Nature biotechnology", "date": "2005", "authors": "Rush J, Moritz A, Lee KA, Guo A, Goss VL, Spek EJ, Zhang H, Zha XM, Polakiewicz RD, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "Q9H9C1-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H9C1-1" } ], "reference": [ { "type": "PubMed", "id": "15592455", "url": "https://glygen.org/publication/PubMed/15592455" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q9H9C1", "url": "https://www.uniprot.org/uniprot/Q9H9C1" }, { "database": "iPTMnet", "id": "Q9H9C1-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H9C1-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "SPE-39 family proteins interact with the HOPS complex and function in lysosomal delivery.", "journal": "Mol. Biol. Cell", "date": "2009", "authors": "Zhu GD, Salazar G, Zlatic SA, Fiza B, Doucette MM, Heilman CJ, Levey AI, Faundez V, L'hernault SW", "evidence": [ { "database": "UniProtKB", "id": "Q9H9C1", "url": "https://www.uniprot.org/uniprot/Q9H9C1" }, { "database": "RefSeq", "id": "NP_001180243", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180243" } ], "reference": [ { "type": "PubMed", "id": "19109425", "url": "https://glygen.org/publication/PubMed/19109425" } ] }, { "title": "Phosphoproteomic analysis of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Brill LM, Xiong W, Lee KB, Ficarro SB, Crain A, Xu Y, Terskikh A, Snyder EY, Ding S", "evidence": [ { "database": "iPTMnet", "id": "Q9H9C1-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H9C1-1" } ], "reference": [ { "type": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "Q9H9C1", "url": "https://www.uniprot.org/uniprot/Q9H9C1" }, { "database": "iPTMnet", "id": "Q9H9C1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H9C1" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "Multiple myeloma phosphotyrosine proteomic profile associated with FGFR3 expression, ligand activation, and drug inhibition.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2009", "authors": "St-Germain JR, Taylor P, Tong J, Jin LL, Nikolic A, Stewart II, Ewing RM, Dharsee M, Li Z, Trudel S, Moran MF", "evidence": [ { "database": "iPTMnet", "id": "Q9H9C1-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H9C1-1" } ], "reference": [ { "type": "PubMed", "id": "19901323", "url": "https://glygen.org/publication/PubMed/19901323" } ] }, { "title": "Phosphoproteome analysis of human liver tissue by long-gradient nanoflow LC coupled with multiple stage MS analysis.", "journal": "Electrophoresis", "date": "2010", "authors": "Han G, Ye M, Liu H, Song C, Sun D, Wu Y, Jiang X, Chen R, Wang C, Wang L, Zou H", "evidence": [ { "database": "iPTMnet", "id": "Q9H9C1-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H9C1-1" } ], "reference": [ { "type": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ] }, { "title": "Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.", "journal": "Nat. Genet.", "date": "2010", "authors": "Cullinane AR, Straatman-Iwanowska A, Zaucker A, Wakabayashi Y, Bruce CK, Luo G, Rahman F, Gurakan F, Utine E, Ozkan TB, Denecke J, Vukovic J, Di Rocco M, Mandel H, Cangul H, Matthews RP, Thomas SG, Rappoport JZ, Arias IM, Wolburg H, Knisely AS, Kelly DA, Muller F, Maher ER, Gissen P", "evidence": [ { "database": "UniProtKB", "id": "Q9H9C1", "url": "https://www.uniprot.org/uniprot/Q9H9C1" } ], "reference": [ { "type": "PubMed", "id": "20190753", "url": "https://glygen.org/publication/PubMed/20190753" } ] }, { "title": "On the endosomal function and gene nomenclature of human SPE-39.", "journal": "Nat. Genet.", "date": "2011", "authors": "Faundez V., L'Hernault S.W.", "evidence": [ { "database": "UniProtKB", "id": "Q9H9C1", "url": "https://www.uniprot.org/uniprot/Q9H9C1" } ], "reference": [ { "type": "PubMed", "id": "21350494", "url": "https://glygen.org/publication/PubMed/21350494" } ] }, { "title": "Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.", "journal": "Hum. Mutat.", "date": "2012", "authors": "Smith H, Galmes R, Gogolina E, Straatman-Iwanowska A, Reay K, Banushi B, Bruce CK, Cullinane AR, Romero R, Chang R, Ackermann O, Baumann C, Cangul H, Cakmak Celik F, Aygun C, Coward R, Dionisi-Vici C, Sibbles B, Inward C, Kim CA, Klumperman J, Knisely AS, Watson SP, Gissen P", "evidence": [ { "database": "UniProtKB", "id": "Q9H9C1", "url": "https://www.uniprot.org/uniprot/Q9H9C1" } ], "reference": [ { "type": "PubMed", "id": "22753090", "url": "https://glygen.org/publication/PubMed/22753090" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q9H9C1", "url": "https://www.uniprot.org/uniprot/Q9H9C1" }, { "database": "iPTMnet", "id": "Q9H9C1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H9C1" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Structural basis of Vps33A recruitment to the human HOPS complex by Vps16.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2013", "authors": "Graham SC, Wartosch L, Gray SR, Scourfield EJ, Deane JE, Luzio JP, Owen DJ", "evidence": [ { "database": "UniProtKB", "id": "Q9H9C1", "url": "https://www.uniprot.org/uniprot/Q9H9C1" } ], "reference": [ { "type": "PubMed", "id": "23901104", "url": "https://glygen.org/publication/PubMed/23901104" } ] }, { "title": "Vps33b pathogenic mutations preferentially affect VIPAS39/SPE-39-positive endosomes.", "journal": "Hum. Mol. Genet.", "date": "2013", "authors": "Tornieri K, Zlatic SA, Mullin AP, Werner E, Harrison R, L'hernault SW, Faundez V", "evidence": [ { "database": "UniProtKB", "id": "Q9H9C1", "url": "https://www.uniprot.org/uniprot/Q9H9C1" } ], "reference": [ { "type": "PubMed", "id": "23918659", "url": "https://glygen.org/publication/PubMed/23918659" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "Q9H9C1", "url": "https://www.uniprot.org/uniprot/Q9H9C1" }, { "database": "iPTMnet", "id": "Q9H9C1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H9C1" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification.", "journal": "J. Invest. Dermatol.", "date": "2017", "authors": "Gruber R, Rogerson C, Windpassinger C, Banushi B, Straatman-Iwanowska A, Hanley J, Forneris F, Strohal R, Ulz P, Crumrine D, Menon GK, Blunder S, Schmuth M, Muller T, Smith H, Mills K, Kroisel P, Janecke AR, Gissen P", "evidence": [ { "database": "UniProtKB", "id": "Q9H9C1", "url": "https://www.uniprot.org/uniprot/Q9H9C1" } ], "reference": [ { "type": "PubMed", "id": "28017832", "url": "https://glygen.org/publication/PubMed/28017832" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9H9C1", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9H9C1" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Novel missense mutation in VPS33B is associated with isolated low gamma-glutamyltransferase cholestasis: Attenuated, incomplete phenotype of arthrogryposis, renal dysfunction, and cholestasis syndrome.", "journal": "Hum. Mutat.", "date": "2019", "authors": "Qiu YL, Liu T, Abuduxikuer K, Hao CZ, Gong JY, Zhang MH, Li LT, Yan YY, Li JQ, Wang JS", "evidence": [ { "database": "UniProtKB", "id": "Q9H9C1", "url": "https://www.uniprot.org/uniprot/Q9H9C1" } ], "reference": [ { "type": "PubMed", "id": "31479177", "url": "https://glygen.org/publication/PubMed/31479177" } ] }, { "title": "Mechanism of platelet alpha-granule biogenesis: study of cargo transport and the VPS33B-VPS16B complex in a model system.", "journal": "Blood advances", "date": "2019", "authors": "Ambrosio AL, Di Pietro SM", "evidence": [ { "database": "RefSeq", "id": "NP_001180243", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180243" } ], "reference": [ { "type": "PubMed", "id": "31501156", "url": "https://glygen.org/publication/PubMed/31501156" } ] }, { "title": "FERARI is required for Rab11-dependent endocytic recycling.", "journal": "Nature cell biology", "date": "2020", "authors": "Solinger JA, Rashid HO, Prescianotto-Baschong C, Spang A", "evidence": [ { "database": "RefSeq", "id": "NP_001180243", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180243" } ], "reference": [ { "type": "PubMed", "id": "31988382", "url": "https://glygen.org/publication/PubMed/31988382" } ] }, { "title": "The Sec1/Munc18 protein VPS33B forms a uniquely bidirectional complex with VPS16B.", "journal": "The Journal of biological chemistry", "date": "2023-04-14", "authors": "Liu Richard J Y, Al-Molieh Yusef, Chen Shao Z, Drobac Marko, Urban Denisa, Chen Chang H, Yao Helen H Y, Geng Ryan S Q, Li Ling, Pluthero Fred G, Benlekbir Samir, Rubinstein John L, Kahr Walter H A", "evidence": [ { "database": "RefSeq", "id": "NP_001180243", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180243" } ], "reference": [ { "type": "PubMed", "id": "37062417", "url": "https://glygen.org/publication/PubMed/37062417" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9H9C1", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9H9C1" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "pathway": [ { "id": "hsa:63894", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:63894", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "Q5PQN6-1", "protein_name": "Spermatogenesis-defective protein 39 homolog", "gene_name": "Vipas39", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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