{ "uniprot_canonical_ac": "O94826-1", "uniprot_ac": "O94826", "uniprot_id": "TOM70_HUMAN", "mass": { "chemical_mass": 67455.0, "monoisotopic_mass": 67455.0 }, "refseq": { "ac": "NP_055635", "name": "mitochondrial import receptor subunit TOM70", "summary": "This gene encodes an import receptor of the outer mitochondrial membrane that is part of the translocase of the outer membrane complex. This protein is involved in the import of mitochondrial precursor proteins. The protein interacts with the SARS-CoV and SARS-Cov-2 ORF9b proteins. [provided by RefSeq, Dec 2021].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055635" }, "gene_names": [ { "name": "TOMM70", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O94826", "id": "O94826" }, { "name": "KIAA0719", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O94826", "id": "O94826" }, { "name": "TOM70", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O94826", "id": "O94826" }, { "name": "TOMM70A", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O94826", "id": "O94826" }, { "name": "TOMM70", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055635", "id": "NP_055635" }, { "name": "Tom70; TOMM70A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055635", "id": "NP_055635" } ], "protein_names": [ { "name": "Mitochondrial import receptor subunit TOM70", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O94826" }, { "name": "Mitochondrial precursor proteins import receptor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94826" }, { "name": "Translocase of outer membrane 70 kDa subunit", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94826" }, { "name": "Translocase of outer mitochondrial membrane protein 70", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O94826" }, { "name": "mitochondrial import receptor subunit TOM70", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055635", "id": "NP_055635" }, { "name": "translocase of outer membrane 70 kDa subunit; mitochondrial precursor proteins import receptor; translocase of outer mitochondrial membrane 70 homolog A; translocase of outer mitochondrial membrane protein 70", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055635", "id": "NP_055635" } ], "function": [ { "annotation": "Acts as a receptor of the preprotein translocase complex of the outer mitochondrial membrane (TOM complex) (PubMed:12526792). Recognizes and mediates the translocation of mitochondrial preproteins from the cytosol into the mitochondria in a chaperone dependent manner (PubMed:12526792, PubMed:35025629). Mediates TBK1 and IRF3 activation induced by MAVS in response to Sendai virus infection and promotes host antiviral responses during virus infection (PubMed:20628368, PubMed:25609812, PubMed:32728199). Upon Sendai virus infection, recruits HSP90AA1:IRF3:BAX in mitochondrion and the complex induces apoptosis (PubMed:25609812).", "evidence": [ { "database": "UniProtKB", "id": "O94826", "url": "https://www.uniprot.org/uniprot/O94826#function" }, { "database": "PubMed", "id": "12526792", "url": "https://glygen.org/publication/PubMed/12526792" }, { "database": "PubMed", "id": "35025629", "url": "https://glygen.org/publication/PubMed/35025629" }, { "database": "PubMed", "id": "20628368", "url": "https://glygen.org/publication/PubMed/20628368" }, { "database": "PubMed", "id": "25609812", "url": "https://glygen.org/publication/PubMed/25609812" }, { "database": "PubMed", "id": "32728199", "url": "https://glygen.org/publication/PubMed/32728199" } ] }, { "annotation": "Mitochondria shed their outer membrane in response to infection-induced stress.", "evidence": [ { "database": "RefSeq", "id": "NP_055635", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055635" }, { "database": "PubMed", "id": "35025629", "url": "https://glygen.org/publication/PubMed/35025629" } ] }, { "annotation": "Suggests a novel active role for Hsp90 in import steps subsequent to Tom70 targeting.", "evidence": [ { "database": "RefSeq", "id": "NP_055635", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055635" }, { "database": "PubMed", "id": "16968702", "url": "https://glygen.org/publication/PubMed/16968702" } ] }, { "annotation": "TOMM70A is ubiquitously expressed in human tissues, maps on chromosome 3q13.1-q13.2 and consists of 12 coding exons spanning over 37 kb.", "evidence": [ { "database": "RefSeq", "id": "NP_055635", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055635" }, { "database": "PubMed", "id": "12200962", "url": "https://glygen.org/publication/PubMed/12200962" } ] }, { "annotation": "The Orf9b protein of SARS-CoV-2 modulates mitochondrial protein biogenesis.", "evidence": [ { "database": "RefSeq", "id": "NP_055635", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055635" }, { "database": "PubMed", "id": "37682539", "url": "https://glygen.org/publication/PubMed/37682539" } ] }, { "annotation": "The internal EELD domain facilitates mitochondrial targeting of Mcl-1 via a Tom70-dependent pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_055635", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055635" }, { "database": "PubMed", "id": "16822835", "url": "https://glygen.org/publication/PubMed/16822835" } ] }, { "annotation": "This gene encodes an import receptor of the outer mitochondrial membrane that is part of the translocase of the outer membrane complex. This protein is involved in the import of mitochondrial precursor proteins. The protein interacts with the SARS-CoV and SARS-Cov-2 ORF9b proteins. [provided by RefSeq, Dec 2021].", "evidence": [ { "database": "RefSeq", "id": "NP_055635", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055635" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 192, "end_pos": 192, "sequence_org": "R", "sequence_mut": "A", "comment": "Unable to induce IRF3 activation upon Sendai virus infection. Loss of interaction with HSPA8 and HSP90AA1. No effect on mitochondrial location.", "evidence": [ { "database": "UniProtKB", "id": "O94826", "url": "https://www.uniprot.org/uniprot/O94826" }, { "database": "PubMed", "id": "12526792", "url": "https://glygen.org/publication/PubMed/12526792" }, { "database": "PubMed", "id": "20628368", "url": "https://glygen.org/publication/PubMed/20628368" }, { "database": "PubMed", "id": "25609812", "url": "https://glygen.org/publication/PubMed/25609812" } ] }, { "start_pos": 195, "end_pos": 195, "sequence_org": "K", "sequence_mut": "A", "comment": "No effect on interaction with HSP90AA1.", "evidence": [ { "database": "UniProtKB", "id": "O94826", "url": "https://www.uniprot.org/uniprot/O94826" }, { "database": "PubMed", "id": "25609812", "url": "https://glygen.org/publication/PubMed/25609812" } ] } ], "expression_tissue": [], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O94826", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94826" } ], "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", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O94826" } ], "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": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"http://www.informatics.jax.org/homology/45929703", "database": "MGI" }, { "id": "O94826", "url": "https://omabrowser.org/oma/group/O94826/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9VKC8-1", "protein_name": "Translocase of outer membrane 70, isoform B", "gene_name": "Tom70", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MAMTLNIGSMKLTKWQLALILGTPLAIGLGTYAVKSWTAASKELDGEKKRPKAKIEKQAISLDGTAPDQELERNQKSAELGEKLSPLKEANNYKTEGNNCYRNGKYDEAIKFYDKAIDKCPKEHRTDMAIFYQNRAASYEMLKKWSNVKEDCTASLEFNPRYAKAYYRRARAHEATKDMNECLDDVTATCILEMFQNNQTIMFADRVLKETGRLDAEKGMRNRVPVVPSACFVNTYTRSFIADPLQTMKVPAPKSDAPPKGFLRAHLAFLEEKYEEIIPACTEEIESSEAEAQYKVEALLMRGTFHLLCGSYVESQQDFDAIIANDYADPNLRAYAYIKRAALYIQLDQREKGIADFAEAERLNPENPDVYHQRAQILLLLEQIEPALAEFEKAVSIAPNHAIAFVQKCYAEYRLSLLAGDQRRLESVMHTFQNAIERFPSCVECYSLTAQVLADQQQFTQAEEYYKKAMVLAPTNPALIVHQAIMVLQWRGDINLAVQLLNKAIEVDPKCELAYETLGTVEVQRAQLTRAVELFEKALLYAKSQAELVHVYSLRNAAVAQINVTKKLGIDMNSVSAMAQSGLMAQGVA", "length": 589 }, "evidence": [ { "id": "O94826", "url": "https://omabrowser.org/oma/group/O94826/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 12, "go_terms": [ { "name": "negative regulation of cell growth involved in cardiac muscle cell development", "id": "GO:0061052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061052", "evidence": [ { "database": "UniProtKB", "id": "O94826", "url": "https://www.uniprot.org/uniprot/O94826" } ], "pmid": "" }, { "name": "response to thyroxine", "id": "GO:0097068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097068", "evidence": [ { "database": "UniProtKB", "id": "O94826", "url": "https://www.uniprot.org/uniprot/O94826" } ], "pmid": "" }, { "name": "protein insertion into mitochondrial outer membrane", "id": "GO:0045040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045040", "evidence": [ { "database": "UniProtKB", "id": "O94826", "url": "https://www.uniprot.org/uniprot/O94826" } ], "pmid": "" }, { "name": "protein insertion into mitochondrial inner membrane", "id": "GO:0045039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045039", "evidence": [ { "database": "UniProtKB", "id": "O94826", "url": "https://www.uniprot.org/uniprot/O94826" } ], "pmid": "" }, { "name": "positive regulation of protein targeting to mitochondrion", "id": "GO:1903955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903955", "evidence": [ { "database": "UniProtKB", "id": "O94826", "url": "https://www.uniprot.org/uniprot/O94826" } ], "pmid": "" }, { "name": "protein targeting to mitochondrion", "id": "GO:0006626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006626", "evidence": [ { "database": "UniProtKB", "id": "O94826", "url": "https://www.uniprot.org/uniprot/O94826" } ], "pmid": "" }, { "name": "positive regulation of defense response to virus by host", "id": "GO:0002230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002230", "evidence": [ { "database": "UniProtKB", "id": "O94826", "url": "https://www.uniprot.org/uniprot/O94826" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "O94826", "url": "https://www.uniprot.org/uniprot/O94826" } ], "pmid": "" }, { "name": "activation of innate immune response", "id": "GO:0002218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002218", "evidence": [ { "database": "UniProtKB", "id": "O94826", "url": "https://www.uniprot.org/uniprot/O94826" } ], "pmid": "" }, { "name": "cellular response to virus", "id": "GO:0098586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098586", "evidence": [ { "database": "UniProtKB", "id": "O94826", "url": "https://www.uniprot.org/uniprot/O94826" } ], "pmid": "" }, { "name": "protein import into mitochondrial matrix", "id": "GO:0030150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030150", "evidence": [ { "database": "UniProtKB", "id": "O94826", "url": "https://www.uniprot.org/uniprot/O94826" } ], "pmid": "" }, { "name": "positive regulation of interferon-beta production", "id": "GO:0032728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032728", "evidence": [ { "database": "UniProtKB", "id": "O94826", "url": "https://www.uniprot.org/uniprot/O94826" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "O94826", "url": "https://www.uniprot.org/uniprot/O94826" } ], "pmid": "" }, { "name": "protein transmembrane transporter activity", "id": "GO:0008320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008320", "evidence": [ { "database": "UniProtKB", "id": "O94826", "url": "https://www.uniprot.org/uniprot/O94826" } ], "pmid": "" }, { "name": "mitochondrion targeting sequence binding", "id": "GO:0030943", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030943", "evidence": [ { "database": "UniProtKB", "id": "O94826", "url": "https://www.uniprot.org/uniprot/O94826" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 6, "go_terms": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O94826", "url": "https://www.uniprot.org/uniprot/O94826" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "O94826", "url": "https://www.uniprot.org/uniprot/O94826" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O94826", "url": "https://www.uniprot.org/uniprot/O94826" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": 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"interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [ 4, 33, 75, 85, 91, 96, 110, 434 ], "sequon_annotation_sites": [ { "start_pos": 453, "end_pos": 455 }, { "start_pos": 454, "end_pos": 456 }, { "start_pos": 509, "end_pos": 511 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", 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{ "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 210 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }