{ "uniprot_canonical_ac": "O76071-1", "uniprot_ac": "O76071", "uniprot_id": "CIAO1_HUMAN", "mass": { "chemical_mass": 37840.0, "monoisotopic_mass": 37840.0 }, "refseq": { "ac": "NP_004795", "name": "probable cytosolic iron-sulfur protein assembly protein CIAO1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004795" }, "gene_names": [ { "name": "CIAO1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O76071", "id": "O76071" }, { "name": "CIA1; WDR39", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004795", "id": "NP_004795" }, { "name": "CIA1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O76071", "id": "O76071" }, { "name": "CIAO1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004795", "id": "NP_004795" }, { "name": "WDR39", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O76071", "id": "O76071" } ], "protein_names": [ { "name": "Probable cytosolic iron-sulfur protein assembly protein CIAO1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O76071" }, { "name": "WD repeat-containing protein 39", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O76071" }, { "name": "WD40 protein Ciao1; WD repeat domain 39; WD repeat-containing protein 39; cytosolic iron-sulfur protein assembly 1 homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004795", "id": "NP_004795" }, { "name": "probable cytosolic iron-sulfur protein assembly protein CIAO1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004795", "id": "NP_004795" } ], "function": [ { "annotation": "A Novel Heterozygous Missense Variant in the CIAO1 Gene in a Family with Alzheimer's Disease: The Val67Ile Variant Promotes the Interaction of CIAO1 and Amyloid-beta Protein Precursor.", "evidence": [ { "database": "RefSeq", "id": "NP_004795", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004795" }, { "database": "PubMed", "id": "34569959", "url": "https://glygen.org/publication/PubMed/34569959" } ] }, { "annotation": "CIAO1 role in the iron-sulfur cluster biogenesis.The LYR motif of CIAO1 is required for the interaction with HSC20.", "evidence": [ { "database": "RefSeq", "id": "NP_004795", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004795" }, { "database": "PubMed", "id": "29309586", "url": "https://glygen.org/publication/PubMed/29309586" } ] }, { "annotation": "Key component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into extramitochondrial Fe/S proteins (PubMed:17937914, PubMed:23891004). As a CIA complex component, interacts specifically with CIAO2A or CIAO2B and MMS19 to assist different branches of iron-sulfur protein assembly, depending of its interactors. The complex CIAO1:CIAO2B:MMS19 binds to and facilitates the assembly of most cytosolic-nuclear Fe/S proteins. CIAO1:CIAO2A specifically matures ACO1 and stabilizes IREB2 (PubMed:23891004). Seems to specifically modulate the transactivation activity of WT1 (PubMed:9556563). As part of the mitotic spindle-associated MMXD complex it may play a role in chromosome segregation (PubMed:20797633).", "evidence": [ { "database": "UniProtKB", "id": "O76071", "url": "https://www.uniprot.org/uniprot/O76071#function" }, { "database": "PubMed", "id": "17937914", "url": "https://glygen.org/publication/PubMed/17937914" }, { "database": "UniProtKB", "id": "MF_03037", "url": "https://www.uniprot.org/uniprot/MF_03037#function" }, { "database": "PubMed", "id": "20797633", "url": "https://glygen.org/publication/PubMed/20797633" }, { "database": "PubMed", "id": "9556563", "url": "https://glygen.org/publication/PubMed/9556563" }, { "database": "PubMed", "id": "23891004", "url": "https://glygen.org/publication/PubMed/23891004" } ] }, { "annotation": "Structural insights into Fe-S protein biogenesis by the CIA targeting complex.", "evidence": [ { "database": "RefSeq", "id": "NP_004795", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004795" }, { "database": "PubMed", "id": "32632277", "url": "https://glygen.org/publication/PubMed/32632277" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 176, "end_pos": 178, "sequence_org": "LYR", "sequence_mut": "AAA", "comment": "Abolishes binding to HSC20.", "evidence": [ { "database": "UniProtKB", "id": "O76071", "url": "https://www.uniprot.org/uniprot/O76071" }, { "database": "PubMed", "id": "29309586", "url": "https://glygen.org/publication/PubMed/29309586" } ] }, { "start_pos": 87, "end_pos": 89, "sequence_org": "IWK", "sequence_mut": "AAA", "comment": "Does not affect binding to HSC20.", "evidence": [ { "database": "UniProtKB", "id": "O76071", "url": "https://www.uniprot.org/uniprot/O76071" }, { "database": "PubMed", "id": "29309586", "url": "https://glygen.org/publication/PubMed/29309586" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "87.31", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000144021", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000144021" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "79.66", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000144021", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000144021" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "86.12", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000144021", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000144021" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "64.62", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000144021", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000144021" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "92.09", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000144021", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000144021" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "94.12", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000144021", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000144021" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "75.57", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000144021", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000144021" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "87.82", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000144021", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000144021" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "90.31", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000144021", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000144021" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "71.27", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000144021", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000144021" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "91.31", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000144021", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000144021" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "90.67", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000144021", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000144021" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "91.63", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000144021", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000144021" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O76071", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O76071" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" 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"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": "" }, { 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Cell Biol.", "date": "2006", "authors": "Higa LA, Wu M, Ye T, Kobayashi R, Sun H, Zhang H", "evidence": [ { "database": "UniProtKB", "id": "O76071", "url": "https://www.uniprot.org/uniprot/O76071" } ], "reference": [ { "type": "PubMed", "id": "17041588", "url": "https://glygen.org/publication/PubMed/17041588" } ] }, { "title": "Structure of the yeast WD40 domain protein Cia1, a component acting late in iron-sulfur protein biogenesis.", "journal": "Structure (London, England : 1993)", "date": "2007-10", "authors": "Srinivasan Vasundara, Netz Daili J A, Webert Holger, Mascarenhas Judita, Pierik Antonio J, Michel Hartmut, Lill Roland", "evidence": [ { "database": "UniProtKB", "id": "O76071", "url": "https://www.uniprot.org/uniprot/O76071" } ], "reference": [ { "type": "PubMed", "id": "17937914", "url": "https://glygen.org/publication/PubMed/17937914" } ] }, { "title": "Human Nbp35 is essential for both cytosolic iron-sulfur protein assembly and iron homeostasis.", "journal": "Molecular and cellular biology", "date": "2008", "authors": "Stehling O, Netz DJ, Niggemeyer B, Rosser R, Eisenstein RS, Puccio H, Pierik AJ, Lill R", "evidence": [ { "database": "Reactome", "id": "R-HSA-2564830", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2564830" } ], "reference": [ { "type": "PubMed", "id": "18573874", "url": "https://glygen.org/publication/PubMed/18573874" } ] }, { "title": "Dre2, a conserved eukaryotic Fe/S cluster protein, functions in cytosolic Fe/S protein biogenesis.", "journal": "Molecular and cellular biology", "date": "2008", "authors": "Zhang Y, Lyver ER, Nakamaru-Ogiso E, Yoon H, Amutha B, Lee DW, Bi E, Ohnishi T, Daldal F, Pain D, Dancis A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2564830", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2564830" } ], "reference": [ { "type": "PubMed", "id": "18625724", "url": "https://glygen.org/publication/PubMed/18625724" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O76071", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O76071" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "MMXD, a TFIIH-independent XPD-MMS19 protein complex involved in chromosome segregation.", "journal": "Molecular cell", "date": "2010-08-27", "authors": "Ito Shinsuke, Tan Li Jing, Andoh Daisuke, Narita Takashi, Seki Mineaki, Hirano Yasuhiro, Narita Keiko, Kuraoka Isao, Hiraoka Yasushi, Tanaka Kiyoji", "evidence": [ { "database": "UniProtKB", "id": "O76071", "url": "https://www.uniprot.org/uniprot/O76071" } ], "reference": [ { "type": "PubMed", "id": "20797633", "url": "https://glygen.org/publication/PubMed/20797633" } ] }, { "title": "Tah18 transfers electrons to Dre2 in cytosolic iron-sulfur protein biogenesis.", "journal": "Nature chemical biology", "date": "2010", "authors": "Netz DJ, Stumpfig M, Dore C, Muhlenhoff U, Pierik AJ, Lill R", "evidence": [ { "database": "Reactome", "id": "R-HSA-2564830", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2564830" } ], "reference": [ { "type": "PubMed", "id": "20802492", "url": "https://glygen.org/publication/PubMed/20802492" } ] }, { "title": "Structure and function of WD40 domain proteins.", "journal": "Protein Cell", "date": "2011", "authors": "Xu Chao, Min Jinrong", "evidence": [ { "database": "UniProtKB", "id": "O76071", "url": "https://www.uniprot.org/uniprot/O76071" } ], "reference": [ { "type": "PubMed", "id": "21468892", "url": "https://glygen.org/publication/PubMed/21468892" } ] }, { "title": "MMS19 links cytoplasmic iron-sulfur cluster assembly to DNA metabolism.", "journal": "Science", "date": "2012", "authors": "Gari K, Leon Ortiz AM, Borel V, Flynn H, Skehel JM, Boulton SJ", "evidence": [ { "database": "UniProtKB", "id": "O76071", "url": "https://www.uniprot.org/uniprot/O76071" }, { "database": "Reactome", "id": "R-HSA-2564830", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2564830" } ], "reference": [ { "type": "PubMed", "id": "22678361", "url": "https://glygen.org/publication/PubMed/22678361" } ] }, { "title": "MMS19 assembles iron-sulfur proteins required for DNA metabolism and genomic integrity.", "journal": "Science", "date": "2012", "authors": "Stehling O, Vashisht AA, Mascarenhas J, Jonsson ZO, Sharma T, Netz DJ, Pierik AJ, Wohlschlegel JA, Lill R", "evidence": [ { "database": "UniProtKB", "id": "O76071", "url": "https://www.uniprot.org/uniprot/O76071" }, { "database": "Reactome", "id": "R-HSA-2564830", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2564830" } ], "reference": [ { "type": "PubMed", "id": "22678362", "url": "https://glygen.org/publication/PubMed/22678362" } ] }, { "title": "The mammalian DUF59 protein Fam96a forms two distinct types of domain-swapped dimer.", "journal": "Acta Crystallogr. D", "date": "2012", "authors": "Chen KE, Richards AA, Ariffin JK, Ross IL, Sweet MJ, Kellie S, Kobe B, Martin JL", "evidence": [ { "database": "UniProtKB", "id": "O76071", "url": "https://www.uniprot.org/uniprot/O76071" } ], "reference": [ { "type": "PubMed", "id": "22683786", "url": "https://glygen.org/publication/PubMed/22683786" } ] }, { "title": "The mammalian proteins MMS19, MIP18, and ANT2 are involved in cytoplasmic iron-sulfur cluster protein assembly.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "van Wietmarschen N, Moradian A, Morin GB, Lansdorp PM, Uringa EJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2564830", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2564830" } ], "reference": [ { "type": "PubMed", "id": "23150669", "url": "https://glygen.org/publication/PubMed/23150669" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "O76071", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O76071" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "IOP1 protein is an external component of the human cytosolic iron-sulfur cluster assembly (CIA) machinery and functions in the MMS19 protein-dependent CIA pathway.", "journal": "J. Biol. Chem.", "date": "2013", "authors": "Seki M, Takeda Y, Iwai K, Tanaka K", "evidence": [ { "database": "UniProtKB", "id": "O76071", "url": "https://www.uniprot.org/uniprot/O76071" } ], "reference": [ { "type": "PubMed", "id": "23585563", "url": "https://glygen.org/publication/PubMed/23585563" } ] }, { "title": "Human CIA2A-FAM96A and CIA2B-FAM96B integrate iron homeostasis and maturation of different subsets of cytosolic-nuclear iron-sulfur proteins.", "journal": "Cell metabolism", "date": "2013", "authors": "Stehling O, Mascarenhas J, Vashisht AA, Sheftel AD, Niggemeyer B, Rosser R, Pierik AJ, Wohlschlegel JA, Lill R", "evidence": [ { "database": "UniProtKB", "id": "O76071", "url": "https://www.uniprot.org/uniprot/O76071" } ], "reference": [ { "type": "PubMed", "id": "23891004", "url": "https://glygen.org/publication/PubMed/23891004" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O76071", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O76071" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "Cytosolic HSC20 integrates de novo iron-sulfur cluster biogenesis with the CIAO1-mediated transfer to recipients.", "journal": "Human molecular genetics", "date": "2018", "authors": "Kim KS, Maio N, Singh A, Rouault TA", "evidence": [ { "database": "UniProtKB", "id": "O76071", "url": "https://www.uniprot.org/uniprot/O76071" }, { "database": "RefSeq", "id": "NP_004795", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004795" } ], "reference": [ { "type": "PubMed", "id": "29309586", "url": "https://glygen.org/publication/PubMed/29309586" } ] }, { "title": "Human CIA2A-FAM96A and CIA2B-FAM96B Integrate Iron Homeostasis and Maturation of Different Subsets of Cytosolic-Nuclear Iron-Sulfur Proteins.", "journal": "Cell Metab.", "date": "2018", "authors": "Stehling Oliver, Mascarenhas Judita, Vashisht Ajay A, Sheftel Alex D, Niggemeyer Brigitte, R\u00f6sser Ralf, Pierik Antonio J, Wohlschlegel James A, Lill Roland", "evidence": [ { "database": "UniProtKB", "id": "O76071", "url": "https://www.uniprot.org/uniprot/O76071" } ], "reference": [ { "type": "PubMed", "id": "29320706", "url": "https://glygen.org/publication/PubMed/29320706" } ] }, { "title": "Structural insights into Fe-S protein biogenesis by the CIA targeting complex.", "journal": "Nature structural & molecular biology", "date": "2020", "authors": "Kassube SA, Thoma NH", "evidence": [ { "database": "RefSeq", "id": "NP_004795", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004795" } ], "reference": [ { "type": "PubMed", "id": "32632277", "url": "https://glygen.org/publication/PubMed/32632277" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O76071", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O76071" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Synthesis of Na2S2O4 mediated cleavable affinity tag for labeling of O-GlcNAc modified proteins via azide-alkyne cycloaddition.", "journal": "Bioorganic & medicinal chemistry letters", "date": "2021", "authors": "Wang J, Dou B, Zheng L, Cao W, Zeng X, Wen Y, Ma J, Li X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O76071", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O76071" } ], "reference": [ { "type": "PubMed", "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054" } ] }, { "title": "A Novel Heterozygous Missense Variant in the CIAO1 Gene in a Family with Alzheimer's Disease: The Val67Ile Variant Promotes the Interaction of CIAO1 and Amyloid-beta Protein Precursor.", "journal": "Journal of Alzheimer's disease : JAD", "date": "2021", "authors": "Nan H, Kim YJ, Tsuchiya M, Fukao T, Hara N, Hagihara A, Nishioka K, Hattori N, Hara N, Ikeuchi T, Ohtsuka T, Takiyama Y", "evidence": [ { "database": "RefSeq", "id": "NP_004795", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004795" } ], "reference": [ { "type": "PubMed", "id": "34569959", "url": "https://glygen.org/publication/PubMed/34569959" } ] }, { "title": "Ciao 1 is a novel WD40 protein that interacts with the tumor suppressor protein WT1.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Johnstone RW, Wang J, Tommerup N, Vissing H, Roberts T, Shi Y", "evidence": [ { "database": "UniProtKB", "id": "O76071", "url": "https://www.uniprot.org/uniprot/O76071" } ], "reference": [ { "type": "PubMed", "id": "9556563", "url": 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