{ "uniprot_canonical_ac": "O00237-1", "uniprot_ac": "O00237", "uniprot_id": "RN103_HUMAN", "mass": { "chemical_mass": 79405.0, "monoisotopic_mass": 79405.0 }, "refseq": { "ac": "NP_001185880", "name": "E3 ubiquitin-protein ligase RNF103 isoform 2", "summary": "The protein encoded by this gene contains a RING-H2 finger, a motif known to be involved in protein-protein and protein-DNA interactions. This gene is highly expressed in normal cerebellum, but not in the cerebral cortex. The expression of the rat counterpart in the frontal cortex and hippocampus was shown to be induced by elctroconvulsive treatment (ECT) as well as chronic antidepressant treatment, suggesting that this gene may be a molecular target for ECT and antidepressants. The protein is a ubiquitin ligase that functions in the endoplasmic reticulum-associated degradation pathway. Alternative splicing of this gene results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream CHMP3 (charged multivesicular body protein 3) gene. [provided by RefSeq, Oct 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185880" }, "gene_names": [ { "name": "RNF103", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00237", "id": "O00237" }, { "name": "HKF-1; KF-1; KF1; ZFP-103; ZFP103", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185880", "id": "NP_001185880" }, { "name": "RNF103", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185880", "id": "NP_001185880" }, { "name": "ZFP103", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00237", "id": "O00237" } ], "protein_names": [ { "name": "E3 ubiquitin-protein ligase RNF103", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00237" }, { "name": "2.3.2.27", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00237" }, { "name": "E3 ubiquitin-protein ligase RNF103 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185880", "id": "NP_001185880" }, { "name": "E3 ubiquitin-protein ligase RNF103; zinc finger protein expressed in cerebellum; zinc finger protein 103 homolog; RING-type E3 ubiquitin transferase RNF103", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185880", "id": "NP_001185880" }, { "name": "KF-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00237" }, { "name": "RING finger protein 103", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00237" }, { "name": "RING-type E3 ubiquitin transferase RNF103", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00237" }, { "name": "Zfp-103", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00237" }, { "name": "Zinc finger protein 103 homolog", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00237" }, { "name": "hKF-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00237" } ], "function": [ { "annotation": "Acts as an E2-dependent E3 ubiquitin-protein ligase, probably involved in the ER-associated protein degradation pathway.", "evidence": [ { "database": "UniProtKB", "id": "O00237", "url": "https://www.uniprot.org/uniprot/O00237#function" }, { "database": "PubMed", "id": "18675248", "url": "https://glygen.org/publication/PubMed/18675248" }, { "database": "PubMed", "id": "10500182", "url": "https://glygen.org/publication/PubMed/10500182" } ] }, { "annotation": "Analysis reveals that the main determinants of selectivity between ubiquitin ligases RNF103 and E2 ubiquitin-conjugating enzymes resides on ring domains, rather than on the E2s.", "evidence": [ { "database": "RefSeq", "id": "NP_001185880", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185880" }, { "database": "PubMed", "id": "18615712", "url": "https://glygen.org/publication/PubMed/18615712" } ] }, { "annotation": "Kf-1 is an ER ubiquitin ligase involved in the endoplasmic reticulum-associated degradation pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_001185880", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185880" }, { "database": "PubMed", "id": "18675248", "url": "https://glygen.org/publication/PubMed/18675248" } ] }, { "annotation": "The protein encoded by this gene contains a RING-H2 finger, a motif known to be involved in protein-protein and protein-DNA interactions. This gene is highly expressed in normal cerebellum, but not in the cerebral cortex. The expression of the rat counterpart in the frontal cortex and hippocampus was shown to be induced by elctroconvulsive treatment (ECT) as well as chronic antidepressant treatment, suggesting that this gene may be a molecular target for ECT and antidepressants. The protein is a ubiquitin ligase that functions in the endoplasmic reticulum-associated degradation pathway. Alternative splicing of this gene results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream CHMP3 (charged multivesicular body protein 3) gene. [provided by RefSeq, Oct 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_001185880", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185880" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O00237", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00237" } ], "glycoeffect": [], "start_pos": 94, "end_pos": 94, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "86620416", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E94", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "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": 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [ { "start_pos": 621, "end_pos": 621, "sequence_org": "C", "sequence_mut": "S", "comment": "Loss of E2-dependent ubiquitination.", "evidence": [ { "database": "UniProtKB", "id": "O00237", "url": "https://www.uniprot.org/uniprot/O00237" }, { "database": "PubMed", "id": "10500182", "url": "https://glygen.org/publication/PubMed/10500182" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "85", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000239305", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000239305" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "89.49", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000239305", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000239305" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "92.38", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000239305", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000239305" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "87.86", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000239305", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000239305" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "92.69", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000239305", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000239305" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "94.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000239305", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000239305" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "88.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000239305", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000239305" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "89.84", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000239305", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000239305" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "85.93", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000239305", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000239305" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "91.31", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000239305", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000239305" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "94.37", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000239305", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000239305" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "88.87", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000239305", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000239305" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "90.1", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000239305", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000239305" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O00237", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00237" } ], "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 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"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", 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"MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the 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"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": 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"BioXpress", "id": "O00237", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00237" } ], "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": 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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": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O00237", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00237" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00237" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", 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"https://www.ebi.ac.uk/interpro/entry/IPR042494", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:7844", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7844", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "602507", "url": "http://www.omim.org/entry/602507", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O00237", "url": "https://www.nextprot.org/entry/NX_O00237", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "FPFESDW", "url": "https://omabrowser.org/oma/group/FPFESDW/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5474929at2759", "url": "http://www.orthodb.org/?query=5474929at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR15302", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15302", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR15302:SF0", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15302:SF0", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF13639", "url": "http://pfam.xfam.org/family/PF13639", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O00237", "url": "https://pharos.nih.gov/targets/O00237", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O00237", "url": "http://purl.obolibrary.org/obo/PR_O00237", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001185880", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185880", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O00237", "url": "https://www.uniprot.org/uniprot/O00237", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00237-1", "url": "https://www.uniprot.org/uniprot/O00237-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MWLKLFFLLLYFLVLFVLARFFEAIVWYETGIFATQLVDPVALSFKKLKTILECRGLGYSGLPEKKDVRELVEKSGDLMEGELYSALKEEEASESVSSTNFSGEMHFYELVEDTKDGIWLVQVIANDRSPLVGKIHWEKMVKKVSRFGIRTGTFNCSSDPRYCRRRGWVRSTLIMSVPQTSTSKGKVMLKEYSGRKIEVEHIFKWITAHAASRIKTIYNAEHLKEEWNKSDQYWLKIYLFANLDQPPAFFSALSIKFTGRVEFIFVNVENWDNKSYMTDIGIYNMPSYILRTPEGIYRYGNHTGEFISLQAMDSFLRSLQPEVNDLFVLSLVLVNLMAWMDLFITQGATIKRFVVLISTLGTYNSLLIISWLPVLGFLQLPYLDSFYEYSLKLLRYSNTTTLASWVRADWMFYSSHPALFLSTYLGHGLLIDYFEKKRRRNNNNDEVNANNLEWLSSLWDWYTSYLFHPIASFQNFPVESDWDEDPDLFLERLAFPDLWLHPLIPTDYIKNLPMWRFKCLGVQSEEEMSEGSQDTENDSESENTDTLSSEKEVFEDKQSVLHNSPGTASHCDAEACSCANKYCQTSPCERKGRSYGSYNTNEDMEPDWLTWPADMLHCTECVVCLENFENGCLLMGLPCGHVFHQNCIVMWLAGGRHCCPVCRWPSYKKKQPYAQHQPLSNDVPS", "length": 685, "header": "sp|O00237-1|RN103_HUMAN Isoform 1 of E3 ubiquitin-protein ligase RNF103 OS=Homo sapiens OX=9606 GN=RNF103 PE=1 SV=1 CANONICAL=O00237-1" }, "isoforms": [ { 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"+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000237455.5", "url": "https://www.ensembl.org/id/ENST00000237455.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000237455.4", "url": "https://www.ensembl.org/id/ENSP00000237455.4" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Identification, expression, and characterization of a cDNA encoding human endoplasmic reticulum mannosidase I, the enzyme that catalyzes the first mannose trimming step in mammalian Asn-linked oligosaccharide biosynthesis.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Gonzalez DS, Karaveg K, Vandersall-Nairn AS, Lal A, Moremen KW", "evidence": [ { "database": "Reactome", "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032" } ], "reference": [ { "type": "PubMed", "id": "10409699", "url": "https://glygen.org/publication/PubMed/10409699" } ] }, { "title": "RING fingers mediate ubiquitin-conjugating enzyme (E2)-dependent ubiquitination.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Lorick KL, Jensen JP, Fang S, Ong AM, Hatakeyama S, Weissman AM", "evidence": [ { "database": "UniProtKB", "id": "O00237", "url": "https://www.uniprot.org/uniprot/O00237" } ], "reference": [ { "type": "PubMed", "id": "10500182", "url": "https://glygen.org/publication/PubMed/10500182" } ] }, { "title": "Two homologues encoding human UDP-glucose:glycoprotein glucosyltransferase differ in mRNA expression and enzymatic activity.", "journal": "Biochemistry", "date": "2000", "authors": "Arnold SM, Fessler LI, Fessler JH, Kaufman RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032" } ], "reference": [ { "type": "PubMed", "id": "10694380", "url": "https://glygen.org/publication/PubMed/10694380" } ] }, { "title": "The noncatalytic portion of human UDP-glucose: glycoprotein glucosyltransferase I confers UDP-glucose binding and transferase function to the catalytic domain.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Arnold SM, Kaufman RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032" } ], "reference": [ { "type": "PubMed", "id": "12913004", "url": "https://glygen.org/publication/PubMed/12913004" } ] }, { "title": "Mechanism of class 1 (glycosylhydrolase family 47) {alpha}-mannosidases involved in N-glycan processing and endoplasmic reticulum quality control.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Karaveg K, Siriwardena A, Tempel W, Liu ZJ, Glushka J, Wang BC, Moremen KW", "evidence": [ { "database": "Reactome", "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032" } ], "reference": [ { "type": "PubMed", "id": "15713668", "url": "https://glygen.org/publication/PubMed/15713668" } ] }, { "title": "EDEM3, a soluble EDEM homolog, enhances glycoprotein endoplasmic reticulum-associated degradation and mannose trimming.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Hirao K, Natsuka Y, Tamura T, Wada I, Morito D, Natsuka S, Romero P, Sleno B, Tremblay LO, Herscovics A, Nagata K, Hosokawa N", "evidence": [ { "database": "Reactome", "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032" } ], "reference": [ { "type": "PubMed", "id": "16431915", "url": "https://glygen.org/publication/PubMed/16431915" } ] }, { "title": "Endoplasmic reticulum (ER) mannosidase I is compartmentalized and required for N-glycan trimming to Man5-6GlcNAc2 in glycoprotein ER-associated degradation.", "journal": "Molecular biology of the cell", "date": "2008", "authors": "Avezov E, Frenkel Z, Ehrlich M, Herscovics A, Lederkremer GZ", "evidence": [ { "database": "Reactome", "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032" } ], "reference": [ { "type": "PubMed", "id": "18003979", "url": "https://glygen.org/publication/PubMed/18003979" } ] }, { "title": "OS-9 and GRP94 deliver mutant alpha1-antitrypsin to the Hrd1-SEL1L ubiquitin ligase complex for ERAD.", "journal": "Nature cell biology", "date": "2008", "authors": "Christianson JC, Shaler TA, Tyler RE, Kopito RR", "evidence": [ { "database": "Reactome", "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032" } ], "reference": [ { "type": "PubMed", "id": "18264092", "url": "https://glygen.org/publication/PubMed/18264092" } ] }, { "title": "A dual task for the Xbp1-responsive OS-9 variants in the mammalian endoplasmic reticulum: inhibiting secretion of misfolded protein conformers and enhancing their disposal.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Bernasconi R, Pertel T, Luban J, Molinari M", "evidence": [ { "database": "Reactome", "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032" } ], "reference": [ { "type": "PubMed", "id": "18417469", "url": "https://glygen.org/publication/PubMed/18417469" } ] }, { "title": "A cell-based reglucosylation assay demonstrates the role of GT1 in the quality control of a maturing glycoprotein.", "journal": "The Journal of cell biology", "date": "2008", "authors": "Pearse BR, Gabriel L, Wang N, Hebert DN", "evidence": [ { "database": "Reactome", "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032" } ], "reference": [ { "type": "PubMed", "id": "18426978", "url": "https://glygen.org/publication/PubMed/18426978" } ] }, { "title": "Analysis of electrostatic contributions to the selectivity of interactions between RING-finger domains and ubiquitin-conjugating enzymes.", "journal": "Proteins", "date": "2009", "authors": "Scheper J, Oliva B, Villa-Freixa J, Thomson TM", "evidence": [ { "database": "RefSeq", "id": "NP_001185880", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185880" } ], "reference": [ { "type": "PubMed", "id": "18615712", "url": "https://glygen.org/publication/PubMed/18615712" } ] }, { "title": "Ubiquitin ligase Kf-1 is involved in the endoplasmic reticulum-associated degradation pathway.", "journal": "Biochemical and biophysical research communications", "date": "2008", "authors": "Maruyama Y, Yamada M, Takahashi K, Yamada M", "evidence": [ { "database": "UniProtKB", "id": "O00237", "url": "https://www.uniprot.org/uniprot/O00237" }, { "database": "RefSeq", "id": "NP_001185880", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185880" } ], "reference": [ { "type": "PubMed", "id": "18675248", "url": "https://glygen.org/publication/PubMed/18675248" } ] }, { "title": "Mammalian OS-9 is upregulated in response to endoplasmic reticulum stress and facilitates ubiquitination of misfolded glycoproteins.", "journal": "Journal of molecular biology", "date": "2009", "authors": "Alcock F, Swanton E", "evidence": [ { "database": "Reactome", "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032" } ], "reference": [ { "type": "PubMed", "id": "19084021", "url": "https://glygen.org/publication/PubMed/19084021" } ] }, { "title": "The mammalian endoplasmic reticulum-associated degradation system.", "journal": "Cold Spring Harbor perspectives in biology", "date": "2013", "authors": "Olzmann JA, Kopito RR, Christianson JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032" } ], "reference": [ { "type": "PubMed", "id": "23232094", "url": "https://glygen.org/publication/PubMed/23232094" } ] }, { "title": "EDEM2 initiates mammalian glycoprotein ERAD by catalyzing the first mannose trimming step.", "journal": "The Journal of cell biology", "date": "2014", "authors": "Ninagawa S, Okada T, Sumitomo Y, Kamiya Y, Kato K, Horimoto S, Ishikawa T, Takeda S, Sakuma T, Yamamoto T, Mori K", "evidence": [ { "database": "Reactome", "id": "R-HSA-901032", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032" } ], "reference": [ { "type": "PubMed", "id": "25092655", "url": "https://glygen.org/publication/PubMed/25092655" } ] }, { "title": "Cloning of human and mouse cDNAs encoding novel zinc finger proteins expressed in cerebellum and hippocampus.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1997", "authors": "Yasojima K, Tsujimura A, Mizuno T, Shigeyoshi Y, Inazawa J, Kikuno R, Kuma K, Ohkubo K, Hosokawa Y, Ibata Y, Abe T, Miyata T, Matsubara K, Nakajima K, Hashimoto-Gotoh T", "evidence": [ { "database": "UniProtKB", "id": "O00237", "url": "https://www.uniprot.org/uniprot/O00237" } ], "reference": [ { "type": "PubMed", "id": "9070305", "url": "https://glygen.org/publication/PubMed/9070305" } ] } ], "pathway": [ { "id": "hsa:7844", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7844", "resource": "KEGG Pathway" }, { "id": "R-HSA-901032", "name": "ER Quality Control Compartment (ERQC)", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-901032", "resource": "Reactome", "description": "ER Quality Control Compartment (ERQC)" } ], "orthologs": [ { "uniprot_canonical_ac": "Q9R1W3-1", "protein_name": "E3 ubiquitin-protein ligase RNF103", "gene_name": "Rnf103", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MWLKLFFLLLYFLVLFVLARFFEAIVWYETGIFATQLVDPVALSFKKLKTILECRGLGYSGLPEKKDVRELVEKSGDLMEGELYSALKEEEASESVSSTNFSGEMHFYELVEDTKDGIWLVQVIANDRSPLVGKIHWEKMVKKVSRFGIRTGTFNCSSDPRYCRRRGWVRSTLIMSVPQTSTSKGKVMLKEYSGRKIEVEHIFKWITAHAASRIKTIYNVEHLKEEWNKSDQYWVKIYLFANLDQPPAFFSALSIKFTGRVEFIFVNVENWNNKSYMTDIGIYNMPSYILRTPEGIYRYGNHTGEFISLQAMDSFLRSLQPEVNDLFVLSLVLVNLMAWMDLFITQGATIKRFVVLISTLGTYNSLLIISWLPVLGFLQLPYLDSFYDYSLRLLRYSNTTTLASWVRADWMFYTSHPALFLSTYLGHGLLIDYFEKKRRRSNNDEVNANNLEWLSSLWDWYTSYLFHPIASFQNFPVDSDWDEDPDLFLERLAFPDLWLHPLIPTDYIKNLPMWRFKCLGVQSEEEMSESSQDTENDSDSDNMDTFSSSKDIFEDKQSVVHSSPGRTSHCDTEACSCANKCESSPCERKRRSYGSHNTDEDMEPDWLTWPAGTLHCTECVVCLENFENGCLLMGLPCGHVFHQNCIVMWLAGGRHCCPVCRWPSYKKKQPYAQQQPLSNDVPS", "length": 683 }, "evidence": [ { "id": "45930345", "url": "http://www.informatics.jax.org/homology/45930345", "database": "MGI" }, { "id": "O00237", "url": "https://omabrowser.org/oma/group/O00237/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "O00237", "url": "https://www.uniprot.org/uniprot/O00237" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "O00237", "url": "https://www.uniprot.org/uniprot/O00237" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O00237", "url": "https://www.uniprot.org/uniprot/O00237" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "O00237", "url": "https://www.uniprot.org/uniprot/O00237" } ], "pmid": "" }, { "name": "ubiquitin-protein transferase activity", "id": "GO:0004842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004842", "evidence": [ { "database": "UniProtKB", "id": "O00237", "url": "https://www.uniprot.org/uniprot/O00237" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "O00237", "url": "https://www.uniprot.org/uniprot/O00237" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "O00237", "url": "https://www.uniprot.org/uniprot/O00237" } ], "pmid": "" }, { "name": "ubiquitin-dependent ERAD pathway", "id": "GO:0030433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030433", "evidence": [ { "database": "UniProtKB", "id": "O00237", "url": "https://www.uniprot.org/uniprot/O00237" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 100, "end_pos": 102, "annotation": "n_glycosylation_sequon" }, { "start_pos": 155, "end_pos": 157, "annotation": "n_glycosylation_sequon" }, { "start_pos": 228, "end_pos": 230, "annotation": "n_glycosylation_sequon" }, { "start_pos": 273, "end_pos": 275, "annotation": "n_glycosylation_sequon" }, { "start_pos": 301, "end_pos": 303, "annotation": "n_glycosylation_sequon" }, { "start_pos": 398, "end_pos": 400, "annotation": "n_glycosylation_sequon" }, { "start_pos": 537, "end_pos": 539, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "R-HSA-8867288", "name": "OS9:SEL1:ERAD E3 ligase:DERL2 ubiquitinates unfolded protein:(GlcNAc)2 (Man)9-5", "equation": "", "summary": "Proteins with major folding defects are extracted from futile folding cycles in the calnexin chaperone system and the ER Quality Control Compartment, and are translocated back to the cytosol for ER-associated degradation (ERAD). The N-glycan is used as a signal to distinguish proteins to be degraded, by direct binding to a ubiquitin ligase complex composed of, minimally, an E3 ubiquitin-protein ligase, protein sel-1 homolog 1 (SEL1L), derlin-2 (DERL2) and protein OS-9 (OS9) (Christianson et al. 2008, Bernasconi et al. 2008, Alcock & Swanton 2009; review Olzmann et al. 2013).", "cellular_location": "cytosol, endoplasmic reticulum membrane, endoplasmic reticulum quality control compartment", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q96GF1-1", "Q86TM6-1", "Q8WU17-1", "O00237-1", "Q99942-1", "Q9UKV5-1", "O60858-1", "O60337-4" ], "evidence": [ { "id": "R-HSA-8867288", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8867288" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "O00237", "gene_name": "RNF103", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "O00237", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00237" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "O00237", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00237" } ] } ] }, { "uniprot_ac": "O60337", "gene_name": "MARCHF6", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "O60337", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60337" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "O60337", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60337" } ] } ] }, { "uniprot_ac": "O60858", "gene_name": "TRIM13", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "O60858", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60858" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "O60858", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60858" } ] } ] }, { "uniprot_ac": "Q86TM6", "gene_name": "SYVN1", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "Q86TM6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86TM6" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q86TM6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86TM6" } ] } ] }, { "uniprot_ac": "Q8WU17", "gene_name": "RNF139", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "Q8WU17", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8WU17" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q8WU17", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8WU17" } ] } ] }, { "uniprot_ac": "Q96GF1", "gene_name": "RNF185", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "Q96GF1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96GF1" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q96GF1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96GF1" } ] } ] }, { "uniprot_ac": "Q99942", "gene_name": "RNF5", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "Q99942", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99942" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q99942", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99942" } ] } ] }, { "uniprot_ac": "Q9UKV5", "gene_name": "AMFR", "activity": [ { "ec_number": "2.3.2.36", "activity": "[E2 ubiquitin-conjugating enzyme]-S-ubiquitinyl-L-cysteine + [acceptor protein]-L-cysteine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-S-ubiquitinyl-L-cysteine.", "evidence": [ { "id": "Q9UKV5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UKV5" } ] }, { "ec_number": "2.3.2.36", "activity": "", "evidence": [ { "id": "Q9UKV5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UKV5" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [ 94 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 100, "end_pos": 102 }, { "start_pos": 155, "end_pos": 157 }, { "start_pos": 228, "end_pos": 230 }, { "start_pos": 273, "end_pos": 275 }, { "start_pos": 301, "end_pos": 303 }, { "start_pos": 398, "end_pos": 400 }, { "start_pos": 537, "end_pos": 539 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 16 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }