{ "uniprot_canonical_ac": "Q9H0A6-1", "uniprot_ac": "Q9H0A6", "uniprot_id": "RNF32_HUMAN", "mass": { "chemical_mass": 41516.0, "monoisotopic_mass": 41516.0 }, "refseq": { "ac": "NP_001295202", "name": "RING finger protein 32 isoform b", "summary": "The protein encoded by this gene contains two RING ring finger motifs. RING finger motifs are present in a variety of functionally distinct proteins and are known to be involved in protein-DNA or protein-protein interactions. This gene was found to be expressed during spermatogenesis, most likely in spermatocytes and/or in spermatids. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295202" }, "gene_names": [ { "name": "RNF32", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9H0A6", "id": "Q9H0A6" }, { "name": "FKSG33; HSD15; LMBR2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295202", "id": "NP_001295202" }, { "name": "FKSG33", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9H0A6", "id": "Q9H0A6" }, { "name": "HSD15", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9H0A6", "id": "Q9H0A6" }, { "name": "RNF32", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295202", "id": "NP_001295202" }, { "name": "hCG_18857", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9H0A6", "id": "Q9H0A6" } ], "protein_names": [ { "name": "RING finger protein 32", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9H0A6" }, { "name": "RING finger protein 32 isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171925", "id": "NP_001171925" }, { "name": "RING finger protein 32 isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295202", "id": "NP_001295202" } ], "function": [ { "annotation": "May play a role in sperm formation.", "evidence": [ { "database": "UniProtKB", "id": "Q9H0A6", "url": "https://www.uniprot.org/uniprot/Q9H0A6#function" }, { "database": "PubMed", "id": "11890671", "url": "https://glygen.org/publication/PubMed/11890671" } ] }, { "annotation": "Molecular cloning of a RING domain protein expressed during sperm formation", "evidence": [ { "database": "RefSeq", "id": "NP_001171925", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171925" }, { "database": "PubMed", "id": "11890671", "url": "https://glygen.org/publication/PubMed/11890671" }, { "database": "RefSeq", "id": "NP_001295202", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295202" } ] }, { "annotation": "The protein encoded by this gene contains two RING ring finger motifs. RING finger motifs are present in a variety of functionally distinct proteins and are known to be involved in protein-DNA or protein-protein interactions. This gene was found to be expressed during spermatogenesis, most likely in spermatocytes and/or in spermatids. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_001171925", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171925" }, { "database": "RefSeq", "id": "NP_001295202", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295202" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "Q9H0A6", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9H0A6" } ], "glycoeffect": [], "start_pos": 32, "end_pos": 32, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "7", "chr_pos": "156644578", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R32", "disease": [ { "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 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{ "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": 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"description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] }, { "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", 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"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": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" 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"url": "https://bgee.org/?page=gene&gene_id=ENSG00000105982" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "71.21", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105982", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105982" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "74.48", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105982", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105982" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000105982", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105982" } ] }, { "tissue": { "name": "Urinary 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}, "score": "63.15", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105982", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105982" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "73.25", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105982", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105982" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "70.02", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105982", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105982" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", 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"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", 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"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": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "Q9H0A6", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9H0A6" } ], "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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"malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H0A6", "url": "https://www.uniprot.org/uniprot/Q9H0A6" } ], "common_name": "Human" } ], "gene": [ { "name": "RNF32", "url": "https://www.uniprot.org/uniprot/Q9H0A6", "locus": { "chromosome": "7", "start_pos": 156677130, "end_pos": 156640281, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000105982", "url": "https://www.ensembl.org/id/ENSG00000105982" } ] } } ], "crossref": [ { "id": "ENSG00000105982", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105982", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "Q9H0A6", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9H0A6", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd16677", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd16677", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd16678", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd16678", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "RNF32", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=RNF32", "database": "GeneCards", "categories": [ "Organism-specific", "Gene Annotation" ] }, { "id": "140545", "url": "https://www.ncbi.nlm.nih.gov/gene/140545", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "17118", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=17118", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "Q9H0A6", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q9H0A6*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000048", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000048", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001841", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001841", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013083", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013083", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR027370", "url": "https://www.ebi.ac.uk/interpro/entry/IPR027370", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR042862", "url": "https://www.ebi.ac.uk/interpro/entry/IPR042862", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:140545", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:140545", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "610241", "url": "http://www.omim.org/entry/610241", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_Q9H0A6", "url": "https://www.nextprot.org/entry/NX_Q9H0A6", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "PQENDWD", "url": "https://omabrowser.org/oma/group/PQENDWD/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "901745at2759", "url": "http://www.orthodb.org/?query=901745at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR14991", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14991", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR14991:SF0", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14991:SF0", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00612", "url": "http://pfam.xfam.org/family/PF00612", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13445", "url": "http://pfam.xfam.org/family/PF13445", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13639", "url": "http://pfam.xfam.org/family/PF13639", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q9H0A6", "url": "https://pharos.nih.gov/targets/Q9H0A6", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q9H0A6", "url": "http://purl.obolibrary.org/obo/PR_Q9H0A6", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001171925", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171925", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "C9JXI4", "url": "https://www.uniprot.org/uniprot/C9JXI4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JXI4-1", "url": "https://www.uniprot.org/uniprot/C9JXI4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PES2", "url": "https://www.uniprot.org/uniprot/E9PES2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PES2-1", "url": "https://www.uniprot.org/uniprot/E9PES2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G5E940", "url": "https://www.uniprot.org/uniprot/G5E940", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G5E940-1", "url": "https://www.uniprot.org/uniprot/G5E940-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9H0A6", "url": "https://www.uniprot.org/uniprot/Q9H0A6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9H0A6-1", "url": "https://www.uniprot.org/uniprot/Q9H0A6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9H0A6-2", "url": "https://www.uniprot.org/uniprot/Q9H0A6-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9H0A6-4", "url": "https://www.uniprot.org/uniprot/Q9H0A6-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9H0A6-5", "url": "https://www.uniprot.org/uniprot/Q9H0A6-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9H0A6-6", "url": "https://www.uniprot.org/uniprot/Q9H0A6-6", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MLKNKGHSSKKDNLAVNAVALQDHILHDLQLRNLSVADHSKTQVQKKENKSLKRDTKAIIDTGLKKTTQCPKLEDSEKEYVLDPKPPPLTLAQKLGLIGPPPPPLSSDEWEKVKQRSLLQGDSVQPCPICKEEFELRPQVLLSCSHVFHKACLQAFEKFTNKKTCPLCRKNQYQTRVIHDGARLFRIKCVTRIQAYWRGCVVRKWYRNLRKTVPPTDAKLRKKFFEKKFTEISHRILCSYNTNIEELFAEIDQCLAINRSVLQQLEEKCGHEITEEEWEKIQVQALRRETHECSICLAPLSAAGGQRVGAGRRSREMALLSCSHVFHHACLLALEEFSVGDRPPFHACPLCRSCYQKKILEC", "length": 362, "header": "sp|Q9H0A6-1|RNF32_HUMAN Isoform 1 of RING finger protein 32 OS=Homo sapiens OX=9606 GN=RNF32 PE=1 SV=1 CANONICAL=Q9H0A6-1" }, "isoforms": [ { "isoform_ac": "C9JXI4-1", "url": "", "sequence": { "sequence": "MLKNKGHSSKKDNLAVNA", "length": 18, "header": "tr|C9JXI4-1|RNF32_HUMAN Computationally mapped isoform of RING finger protein 32 OS=Homo sapiens OX=9606 GN=RNF32 PE=1 SV=8 CANONICAL=Q9H0A6-1" }, "locus": { "chromosome": "7", "start_pos": 156644537, "end_pos": 156643878, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000439609.5", "url": "https://www.ensembl.org/id/ENST00000439609.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000388088.1", "url": "https://www.ensembl.org/id/ENSP00000388088.1" } ] } }, { "isoform_ac": "E9PES2-1", "url": "", "sequence": { "sequence": "MLKNKGHSSKKDNLAVNAVALQDHILHDLQLRNLSVADHSKTQVQKKENKSLKRDTKAIIDTGLKKTTQCPKLEDSEKEYVLDPKPPPLTLAQKLGLIGPPPPPLSSDEWEKVKQRSLLQGDSVQPCPICKEEFELRPQVLLSCSHVFHKACLQAFEKFTNKKTCPLCRKNQYQTRVIHDGARLFRIKCVTRIQAYWRGCVVRKWYRNLRKTVPPTDAKLR", "length": 221, "header": "tr|E9PES2-1|RNF32_HUMAN Computationally mapped isoform of RING finger protein 32 OS=Homo sapiens OX=9606 GN=RNF32 PE=1 SV=1 CANONICAL=Q9H0A6-1" }, "locus": { "chromosome": "7", "start_pos": 156658549, "end_pos": 156643878, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000404282.6", "url": "https://www.ensembl.org/id/ENST00000404282.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000385815.2", "url": "https://www.ensembl.org/id/ENSP00000385815.2" } ] } }, { "isoform_ac": "G5E940-1", "url": "", "sequence": { "sequence": "MLKNKGHSSKKDNLAVNAVALQDHILHDLQLRNLSVADHSKTQVQKKENKSLKRDTKAIIDTGLKKTTQCPKLEDSEKEYVLDPKPPPLTLAQKLGLIGPPPPPLSSDEWEKVKQRSLLQGDSVQPCPICKEEFELRPQVLLSCSHVFHKACLQAFEKFTNKKTCPLCRKNQYQTRVIHDGARLFRIKCVTRIQAYWRGCVVRKWYRNLRKTVPPTDAKLRKKFFEKKFTEISHRILCSYNTNIEELFAEIDQCLAINRSVLQQLEEKCGHEITEEEWEKIQVQNETSACFEDPCLGAHGSHFSLSNFLL", "length": 310, "header": "tr|G5E940-1|RNF32_HUMAN Computationally mapped isoform of RING finger protein 32 OS=Homo sapiens OX=9606 GN=RNF32 PE=1 SV=1 CANONICAL=Q9H0A6-1" }, "locus": { "chromosome": "7", "start_pos": 156676372, "end_pos": 156643878, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000311822.12", "url": "https://www.ensembl.org/id/ENST00000311822.12" }, { "database": "Ensembl Peptide", "id": "ENSP00000308894.8", "url": "https://www.ensembl.org/id/ENSP00000308894.8" } ] } }, { "isoform_ac": "Q9H0A6-1", "url": "", "sequence": { "sequence": "MLKNKGHSSKKDNLAVNAVALQDHILHDLQLRNLSVADHSKTQVQKKENKSLKRDTKAIIDTGLKKTTQCPKLEDSEKEYVLDPKPPPLTLAQKLGLIGPPPPPLSSDEWEKVKQRSLLQGDSVQPCPICKEEFELRPQVLLSCSHVFHKACLQAFEKFTNKKTCPLCRKNQYQTRVIHDGARLFRIKCVTRIQAYWRGCVVRKWYRNLRKTVPPTDAKLRKKFFEKKFTEISHRILCSYNTNIEELFAEIDQCLAINRSVLQQLEEKCGHEITEEEWEKIQVQALRRETHECSICLAPLSAAGGQRVGAGRRSREMALLSCSHVFHHACLLALEEFSVGDRPPFHACPLCRSCYQKKILEC", "length": 362, "header": "sp|Q9H0A6-1|RNF32_HUMAN Isoform 1 of RING finger protein 32 OS=Homo sapiens OX=9606 GN=RNF32 PE=1 SV=1 CANONICAL=Q9H0A6-1" }, "locus": { "chromosome": "7", "start_pos": 156676652, "end_pos": 156643878, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000317955.10", "url": "https://www.ensembl.org/id/ENST00000317955.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000315950.5", "url": "https://www.ensembl.org/id/ENSP00000315950.5" } ] } }, { "isoform_ac": "Q9H0A6-2", "url": "", "sequence": { "sequence": "MLKNKGHSSKKDNLAVNAVALQDHILHDLQLRNLSVADHSKTQVQKKENKSLKRDTKAIIDTGLKKTTQCPKLEDSEKEYVLDPKPPPLTLAQKLGLIGPPPPPLSSDEWEKVKQRSLLQGDSVQPCPICKEEFELRPQVFSIRGKNQYQTRVIHDGARLFRIKCVTRIQAYWRGCVVRKWYRNLRKTVPPTDAKLRKKFFEKKFTEISHRILCSYNTNIEELFAEIDQCLAINRSVLQQLEEKCGHEITEEEWEKIQVQALRRETHECSICLAPLSAAGGQRVGAGRRSREMALLSCSHVFHHACLLALEEFSVGDRPPFHACPLCRSCYQKKILEC", "length": 338, "header": "sp|Q9H0A6-2|RNF32_HUMAN Isoform 2 of RING finger protein 32 OS=Homo sapiens OX=9606 GN=RNF32 PE=1 SV=1 CANONICAL=Q9H0A6-1" }, "locus": {} }, { "isoform_ac": "Q9H0A6-4", "url": "", "sequence": { "sequence": "MLKNKGHSSKKDNLAVNAVALQDHILHDLQLRNLSVADHSKTQVQKKENKSLKRDTKAIIDTGLKKTTQCPKLEDSEKEYVLDPKPPPLTLAQKLGLIGPPPPPLSSDEWEKVKQRSLLQGDSVQPCPICKEEFELRPQVLLSCSHVFHKACLQAFEKFTNKKTCPLCRKNQYQTRVIHDGARLFRIKCVTRIQAYWRGCVVRKWYRNLRKTVPPTDAKLRKKFFEKKTQDWKPA", "length": 235, "header": "sp|Q9H0A6-4|RNF32_HUMAN Isoform 4 of RING finger protein 32 OS=Homo sapiens OX=9606 GN=RNF32 PE=1 SV=1 CANONICAL=Q9H0A6-1" }, "locus": { "chromosome": "7", "start_pos": 156658883, "end_pos": 156643878, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000392741.6", "url": "https://www.ensembl.org/id/ENST00000392741.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000376497.2", "url": "https://www.ensembl.org/id/ENSP00000376497.2" } ] } }, { "isoform_ac": "Q9H0A6-5", "url": "", "sequence": { "sequence": "MLKNKGHSSKKDNLAVNAVALQDHILHDLQLRNLSVADHSKTQVQKKENKSLKRDTKAIIDTGLKKTTQCPKLEDSEKEYVLDPKPPPLTLAQKLGLIGPPPPPLSSDEWEKVKQRSLLQGDSVQPCPICKEEFELRPQVLLSCSHVFHKACLQAFEKFTNKKTCPLCRSCYQKKILEC", "length": 179, "header": "sp|Q9H0A6-5|RNF32_HUMAN Isoform 5 of RING finger protein 32 OS=Homo sapiens OX=9606 GN=RNF32 PE=1 SV=1 CANONICAL=Q9H0A6-1" }, "locus": {} }, { "isoform_ac": "Q9H0A6-6", "url": "", "sequence": { "sequence": "MLKNKGHSSKKDNLAVNAVALQDHILHDLQLRNLSVADHSKTQVQKKENKSLKRDTKAIIDTGLKKTTQCPKLEDSEKEYVLDPKPPPLTLGYHS", "length": 95, "header": "sp|Q9H0A6-6|RNF32_HUMAN Isoform 6 of RING finger protein 32 OS=Homo sapiens OX=9606 GN=RNF32 PE=1 SV=1 CANONICAL=Q9H0A6-1" }, "locus": { "chromosome": "7", "start_pos": 156646464, "end_pos": 156643878, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000392747.6", "url": "https://www.ensembl.org/id/ENST00000392747.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000376503.2", "url": "https://www.ensembl.org/id/ENSP00000376503.2" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.", "journal": "Genome Res.", "date": "2001", "authors": "Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Bocher M, Blocker H, Bauersachs S, Blum H, Lauber J, Dusterhoft A, Beyer A, Kohrer K, Strack N, Mewes HW, Ottenwalder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A", "evidence": [ { "database": "UniProtKB", "id": "Q9H0A6", "url": "https://www.uniprot.org/uniprot/Q9H0A6" } ], "reference": [ { "type": "PubMed", "id": "11230166", "url": "https://glygen.org/publication/PubMed/11230166" } ] }, { "title": "A double RING-H2 domain in RNF32, a gene expressed during sperm formation.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2002", "authors": "van Baren MJ, van der Linde HC, Breedveld GJ, Baarends WM, Rizzu P, de Graaff E, Oostra BA, Heutink P", "evidence": [ { "database": "UniProtKB", "id": "Q9H0A6", "url": "https://www.uniprot.org/uniprot/Q9H0A6" }, { "database": "RefSeq", "id": "NP_001171925", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171925" }, { "database": "RefSeq", "id": "NP_001295202", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295202" } ], "reference": [ { "type": "PubMed", "id": "11890671", "url": "https://glygen.org/publication/PubMed/11890671" } ] } ], "pathway": [ { "id": "hsa:140545", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:140545", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "F7ENQ2-1", "protein_name": "Ring finger protein 32", "gene_name": "Rnf32", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MLKNKDRSSKKSNLAVSAVALQDHILRDLQLGHLSVADPCKTKVQKKENKSQSLRKGSAAMMDTGLRKTAEGPKGEDPEKEYVLDPTPPPLTLAQKLGLLALPPLPLSSDEWEKVKQRSLLQGDSMQPCPICKEEFELQPQVLLSCSHVFHRACLQAFEKFTNRKTCPLCRKNQYQTRVIHDGARLFRVKCATRIQAYWRGYIVRKWYRNLRKMIPPTDAKLRRKFFEEKFTEISHRILCSYNTNIDELFSEIDVCLAVNRSILQQLDERCGQEITEEDWEKIQAQAAHHEIYECSICLTPLFFHCDGRQAAAGTSSQHPRETVLLSCAHLFHNACLLALEEFSLGDNAPFNVCPLCRSCYQKKIVEY", "length": 368 }, "evidence": [ { "id": "45237422", "url": "http://www.informatics.jax.org/homology/45237422", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9JIT1-1", "protein_name": "RING finger protein 32", "gene_name": "Rnf32", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MLRNKDRSSNKGNLAVTAVALQDHLLHDLQLGHLSVADPCKIKARKKEKKSKSLKRDATAIIDTGLRKSTEGPNMEDPEKEYVLDPTPPPLTLAQKLGLLPPPPLPLSSDEWERVKQRSLLQGDSIQPCPICKEEFELHPQVLLSCSHVFHRACLQAFEKFTNKKTCPLCRKNQYQTRVIHDGARLFRVKCATRIQAYWRGYIVRKWYRNLRKIIPPSDAKLRRKFFEEKFTEISHRILCSYNTNIDELFSEIDVCLAVNRSILQQLDERCGQIITKEDWEKIQAQAAHHEIYECSICLTPLSFHGDGRQAAIGTSSQRPRETVLLSCAHLFHNACLLALEEFSLGDNAPFHVCPLCRSCYQKKIVEC", "length": 368 }, "evidence": [ { "id": "45237422", "url": "http://www.informatics.jax.org/homology/45237422", "database": "MGI" }, { "id": "Q9H0A6", "url": "https://omabrowser.org/oma/group/Q9H0A6/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9H0A6", "url": "https://www.uniprot.org/uniprot/Q9H0A6" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "Q9H0A6", "url": "https://www.uniprot.org/uniprot/Q9H0A6" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q9H0A6", "url": "https://www.uniprot.org/uniprot/Q9H0A6" } ], "pmid": "" }, { "name": "aggresome", "id": "GO:0016235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016235", "evidence": [ { "database": "UniProtKB", "id": "Q9H0A6", "url": "https://www.uniprot.org/uniprot/Q9H0A6" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9H0A6", "url": "https://www.uniprot.org/uniprot/Q9H0A6" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 258, "end_pos": 260, "annotation": "n_glycosylation_sequon" }, { "start_pos": 33, "end_pos": 35, "annotation": "n_glycosylation_sequon" }, { "start_pos": 49, "end_pos": 51, "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" } ], "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": 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