{ "uniprot_canonical_ac": "O95258-1", "uniprot_ac": "O95258", "uniprot_id": "UCP5_HUMAN", "mass": { "chemical_mass": 36202.0, "monoisotopic_mass": 36202.0 }, "refseq": { "ac": "NP_001269124", "name": "brain mitochondrial carrier protein 1 isoform 1 precursor", "summary": "Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). Uncoupling proteins separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. Uncoupling proteins facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. This gene is widely expressed in many tissues with the greatest abundance in brain and testis. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on chromosome 4. [provided by RefSeq, Aug 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269124" }, "gene_names": [ { "name": "SLC25A14", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95258", "id": "O95258" }, { "name": "BMCP1; UCP5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269124", "id": "NP_001269124" }, { "name": "BMCP1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95258", "id": "O95258" }, { "name": "PRO1682", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95258", "id": "O95258" }, { "name": "SLC25A14", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269124", "id": "NP_001269124" }, { "name": "UCP5", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95258", "id": "O95258" } ], "protein_names": [ { "name": "Brain mitochondrial carrier protein 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95258" }, { "name": "BMCP-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95258" }, { "name": "Mitochondrial uncoupling protein 5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95258" }, { "name": "Solute carrier family 25 member 14", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95258" }, { "name": "UCP 5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95258" }, { "name": "brain mitochondrial carrier protein 1 isoform 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269124", "id": "NP_001269124" }, { "name": "brain mitochondrial carrier protein 1; mitochondrial uncoupling protein 5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269124", "id": "NP_001269124" } ], "function": [ { "annotation": "Compares and contrasts all the known human SLC25A* genes and includes functional information. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001269124", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269124" }, { "database": "PubMed", "id": "23266187", "url": "https://glygen.org/publication/PubMed/23266187" } ] }, { "annotation": "Increased expression of cerebral UCP5 and UCP4 is observed in a model of high altitude hypoxia and mitochondrial oxidative phosphorylation deficiency.", "evidence": [ { "database": "RefSeq", "id": "NP_001269124", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269124" }, { "database": "PubMed", "id": "23266757", "url": "https://glygen.org/publication/PubMed/23266757" } ] }, { "annotation": "Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). Uncoupling proteins separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. Uncoupling proteins facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. This gene is widely expressed in many tissues with the greatest abundance in brain and testis. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on chromosome 4. [provided by RefSeq, Aug 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_001269124", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269124" } ] }, { "annotation": "Transports inorganic anions (sulfate, sulfite, thiosulfate and phosphate) and, to a lesser extent, a variety of dicarboxylates (e.g. malonate, malate and citramalate) and, even more so, aspartate and glutamate and tricarboxylates (PubMed:31356773). May catalyze the export of sulfite and thiosulfate (the hydrogen sulfide degradation products) from the mitochondria, thereby modulating the level of the hydrogen sulfide (Probable). Also can mediate a very low unidirectional transport of anions including sulfate, phosphate, (S)-malate, citrate, L-aspartate and L-glutamate (PubMed:31356773). Maintains oxidative balance (through uncoupling activities) and ATP production (by modifying mitochondrial membrane potential) (PubMed:20600837). Is able to transport protons across lipid membranes (PubMed:22524567, PubMed:26182433). Also exhibits transmembrane chloride transport activity to a lesser extent(PubMed:22524567, PubMed:26182433). May modify mitochondrial respiratory efficiency and mitochondrial oxidant production (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O95258", "url": "https://www.uniprot.org/uniprot/O95258#function" }, { "database": "UniProtKB", "id": "Q9Z2B2", "url": "https://www.uniprot.org/uniprot/Q9Z2B2#function" }, { "database": "PubMed", "id": "31356773", "url": "https://glygen.org/publication/PubMed/31356773" }, { "database": "PubMed", "id": "20600837", "url": "https://glygen.org/publication/PubMed/20600837" }, { "database": "PubMed", "id": "22524567", "url": "https://glygen.org/publication/PubMed/22524567" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "78.88", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000102078", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102078" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "73.55", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000102078", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102078" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "77.54", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000102078", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102078" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "87.61", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000102078", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102078" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "85.6", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000102078", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102078" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "86.67", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000102078", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102078" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "77.33", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000102078", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102078" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "80.85", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000102078", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102078" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "88.04", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000102078", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102078" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "75.18", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000102078", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102078" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "77.73", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000102078", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102078" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "88.17", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000102078", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102078" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "85.57", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000102078", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102078" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95258", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95258" } ], "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" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O95258", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95258" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { 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"name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"Q5JY88", "url": "https://www.uniprot.org/uniprot/Q5JY88", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5JY88-1", "url": "https://www.uniprot.org/uniprot/Q5JY88-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGIFPGIILIFLRVKFATAAVIVSGHQKSTTVSHEMSGLNWKPFVYGGLASIVAEFGTFPVDLTKTRLQVQGQSIDARFKEIKYRGMFHALFRICKEEGVLALYSGIAPALLRQASYGTIKIGIYQSLKRLFVERLEDETLLINMICGVVSGVISSTIANPTDVLKIRMQAQGSLFQGSMIGSFIDIYQQEGTRGLWRGVVPTAQRAAIVVGVELPVYDITKKHLILSGMMGDTILTHFVSSFTCGLAGALASNPVDVVRTRMMNQRAIVGHVDLYKGTVDGILKMWKHEGFFALYKGFWPNWLRLGPWNIIFFITYEQLKRLQI", "length": 325, "header": "sp|O95258-1|UCP5_HUMAN Isoform 1 of Brain mitochondrial carrier protein 1 OS=Homo sapiens OX=9606 GN=SLC25A14 PE=1 SV=1 CANONICAL=O95258-1" }, "isoforms": [ { "isoform_ac": "F6SL11-1", "url": "", "sequence": { "sequence": "MSGLNWKPFVYGGLASIVAEFGTFPVDLTKTRLQVQGQSIDARFKEIKYRGMFHALFRICKEEGVLALYSGIAPALLRQASYGTIKIGIYQSLKRLFVERLEDETLLINMICGVVSGVISSTIANPTDVLKIRMQAQGSLFQGSMIGSFIDIYQQEGTRGLWRGVVPTAQRAAIVVGVELPVYDITKKHLILSGMMGDTILTHFVSSFTCGLAGALASNPVDVVRTRMMNQRAIVGHVDLYKGTVDGILKMWKHEGFFALYKGFWPNWLRLGPWNIIFFITYEQLKRLQI", "length": 290, "header": "tr|F6SL11-1|F6SL11_HUMAN Computationally mapped isoform of Solute carrier family 25 member 14 OS=Homo sapiens OX=9606 GN=SLC25A14 PE=1 SV=1 CANONICAL=O95258-1" }, "locus": { "chromosome": "X", "start_pos": 130372947, "end_pos": 130345212, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000543953.5", "url": "https://www.ensembl.org/id/ENST00000543953.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000445225.2", "url": "https://www.ensembl.org/id/ENSP00000445225.2" } ] } }, { "isoform_ac": "O95258-1", "url": "", "sequence": { "sequence": "MGIFPGIILIFLRVKFATAAVIVSGHQKSTTVSHEMSGLNWKPFVYGGLASIVAEFGTFPVDLTKTRLQVQGQSIDARFKEIKYRGMFHALFRICKEEGVLALYSGIAPALLRQASYGTIKIGIYQSLKRLFVERLEDETLLINMICGVVSGVISSTIANPTDVLKIRMQAQGSLFQGSMIGSFIDIYQQEGTRGLWRGVVPTAQRAAIVVGVELPVYDITKKHLILSGMMGDTILTHFVSSFTCGLAGALASNPVDVVRTRMMNQRAIVGHVDLYKGTVDGILKMWKHEGFFALYKGFWPNWLRLGPWNIIFFITYEQLKRLQI", "length": 325, "header": "sp|O95258-1|UCP5_HUMAN Isoform 1 of Brain mitochondrial carrier protein 1 OS=Homo sapiens OX=9606 GN=SLC25A14 PE=1 SV=1 CANONICAL=O95258-1" }, "locus": { "chromosome": "X", "start_pos": 130372947, "end_pos": 130340279, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000218197.9", "url": "https://www.ensembl.org/id/ENST00000218197.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000218197.5", "url": "https://www.ensembl.org/id/ENSP00000218197.5" } ] } }, { "isoform_ac": "O95258-2", "url": "", "sequence": { "sequence": "MGIFPGIILIFLRVKFATAAVIHQKSTTVSHEMSGLNWKPFVYGGLASIVAEFGTFPVDLTKTRLQVQGQSIDARFKEIKYRGMFHALFRICKEEGVLALYSGIAPALLRQASYGTIKIGIYQSLKRLFVERLEDETLLINMICGVVSGVISSTIANPTDVLKIRMQAQGSLFQGSMIGSFIDIYQQEGTRGLWRGVVPTAQRAAIVVGVELPVYDITKKHLILSGMMGDTILTHFVSSFTCGLAGALASNPVDVVRTRMMNQRAIVGHVDLYKGTVDGILKMWKHEGFFALYKGFWPNWLRLGPWNIIFFITYEQLKRLQI", "length": 322, "header": "sp|O95258-2|UCP5_HUMAN Isoform 2 of Brain mitochondrial carrier protein 1 OS=Homo sapiens OX=9606 GN=SLC25A14 PE=1 SV=1 CANONICAL=O95258-1" }, "locus": { "chromosome": "X", "start_pos": 130372947, "end_pos": 130340279, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000361980.9", "url": "https://www.ensembl.org/id/ENST00000361980.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000354455.5", "url": "https://www.ensembl.org/id/ENSP00000354455.5" } ] } }, { "isoform_ac": "O95258-3", "url": "", "sequence": { "sequence": "MGIFPGIILIFLRVKFATAAVIHQKSTTVSHEMSGLNWKPFVYGGLASIVAEFGTFPVDLTKTRLQVQGQSIDARFKEIKYRGMFHALFRICKEEGVLALYSGIAPALLRQASYGTIKIGIYQSLKRLFVERLEDETLLINMICGVVSGVISSTIANPTDVLKIRMQAQGSLFQGSMIGSFIDIYQQEGTRGLWRCLCSKAVTGCVLWLMPVIPALWEANAGGSLEGVVPTAQRAAIVVGVELPVYDITKKHLILSGMMGDTILTHFVSSFTCGLAGALASNPVDVVRTRMMNQRAIVGHVDLYKGTVDGILKMWKHEGFFALYKGFWPNWLRLGPWNIIFFITYEQLKRLQI", "length": 353, "header": "sp|O95258-3|UCP5_HUMAN Isoform 3 of Brain mitochondrial carrier protein 1 OS=Homo sapiens OX=9606 GN=SLC25A14 PE=1 SV=1 CANONICAL=O95258-1" }, "locus": { "chromosome": "X", "start_pos": 130372947, "end_pos": 130340279, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000339231.3", "url": "https://www.ensembl.org/id/ENST00000339231.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000342797.3", "url": "https://www.ensembl.org/id/ENSP00000342797.3" } ] } }, { "isoform_ac": "Q5JY88-1", "url": "", "sequence": { "sequence": "MGIFPGIILIFLRVKFATAAVIVSGHQKSTTVSHEMSGLNWKPFVYGGLASIVAEFGTFPVDLTKTRLQVQGQSIDARFKEIKYRGMFHALFRICKEEGVLALYSGIAPALLRQASYGTIKIGIYQSLKRLFVERLEDETLLINMICGVVSGVISSTIANPTDVLKIRMQAQGSLFQGSMIGSFIDIYQQEGTRGLWR", "length": 198, "header": "tr|Q5JY88-1|Q5JY88_HUMAN Computationally mapped isoform of Solute carrier family 25 member 14 OS=Homo sapiens OX=9606 GN=SLC25A14 PE=1 SV=1 CANONICAL=O95258-1" }, "locus": { "chromosome": "X", "start_pos": 130358735, "end_pos": 130340279, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000424447.5", "url": "https://www.ensembl.org/id/ENST00000424447.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000402578.1", "url": "https://www.ensembl.org/id/ENSP00000402578.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Characterization of novel UCP5/BMCP1 isoforms and differential regulation of UCP4 and UCP5 expression through dietary or temperature manipulation.", "journal": "FASEB J.", "date": "2000", "authors": "Yu XX, Mao W, Zhong A, Schow P, Brush J, Sherwood SW, Adams SH, Pan G", "evidence": [ { "database": "UniProtKB", "id": "O95258", "url": "https://www.uniprot.org/uniprot/O95258" } ], "reference": [ { "type": "PubMed", "id": "10928996", "url": "https://glygen.org/publication/PubMed/10928996" } ] }, { "title": "Mechanism of uncoupling protein action.", "journal": "Biochemical Society transactions", "date": "2001", "authors": "Garlid KD, Jaburek M, Jezek P", "evidence": [ { "database": "Reactome", "id": "R-HSA-167826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-167826" } ], "reference": [ { "type": "PubMed", "id": "11709078", "url": "https://glygen.org/publication/PubMed/11709078" } ] }, { "title": "Superoxide activates mitochondrial uncoupling proteins.", "journal": "Nature", "date": "2002", "authors": "Echtay KS, Roussel D, St-Pierre J, Jekabsons MB, Cadenas S, Stuart JA, Harper JA, Roebuck SJ, Morrison A, Pickering S, Clapham JC, Brand MD", "evidence": [ { "database": "Reactome", "id": "R-HSA-167827", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-167827" } ], "reference": [ { "type": "PubMed", "id": "11780125", "url": "https://glygen.org/publication/PubMed/11780125" } ] }, { "title": "Superoxide activates mitochondrial uncoupling protein 2 from the matrix side. Studies using targeted antioxidants.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Echtay KS, Murphy MP, Smith RA, Talbot DA, Brand MD", "evidence": [ { "database": "Reactome", "id": "R-HSA-167827", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-167827" } ], "reference": [ { "type": "PubMed", "id": "12372827", "url": "https://glygen.org/publication/PubMed/12372827" } ] }, { "title": "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.", "journal": "Genome Res.", "date": "2003", "authors": "Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A", "evidence": [ { "database": "UniProtKB", "id": "O95258", "url": "https://www.uniprot.org/uniprot/O95258" } ], "reference": [ { "type": "PubMed", "id": "12975309", "url": "https://glygen.org/publication/PubMed/12975309" } ] }, { "title": "Mitochondrial UCP5 is neuroprotective by preserving mitochondrial membrane potential, ATP levels, and reducing oxidative stress in MPP+ and dopamine toxicity.", "journal": "Free radical biology & medicine", "date": "2010-09-15", "authors": "Kwok Ken Hon-Hung, Ho Philip Wing-Lok, Chu Andrew Chi-Yuen, Ho Jessica Wing-Man, Liu Hui-Fang, Yiu David Chi-Wai, Chan Koon-Ho, Kung Michelle Hiu-Wai, Ramsden David Boyer, Ho Shu-Leong", "evidence": [ { "database": "UniProtKB", "id": "O95258", "url": "https://www.uniprot.org/uniprot/O95258" } ], "reference": [ { "type": "PubMed", "id": "20600837", "url": "https://glygen.org/publication/PubMed/20600837" } ] }, { "title": "Toward understanding the mechanism of ion transport activity of neuronal uncoupling proteins UCP2, UCP4, and UCP5.", "journal": "Biochemistry", "date": "2012", "authors": "Hoang T, Smith MD, Jelokhani-Niaraki M", "evidence": [ { "database": "UniProtKB", "id": "O95258", "url": "https://www.uniprot.org/uniprot/O95258" } ], "reference": [ { "type": "PubMed", "id": "22524567", "url": "https://glygen.org/publication/PubMed/22524567" } ] }, { "title": "The mitochondrial transporter family SLC25: identification, properties and physiopathology.", "journal": "Molecular aspects of medicine", "date": "2013", "authors": "Palmieri F", "evidence": [ { "database": "RefSeq", "id": "NP_001269124", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269124" } ], "reference": [ { "type": "PubMed", "id": "23266187", "url": "https://glygen.org/publication/PubMed/23266187" } ] }, { "title": "Evidence for involvement of uncoupling proteins in cerebral mitochondrial oxidative phosphorylation deficiency of rats exposed to 5,000 m high altitude.", "journal": "Neurochemical research", "date": "2013", "authors": "Xu Y, Liu Y, Xia C, Gao P, Liu JZ", "evidence": [ { "database": "RefSeq", "id": "NP_001269124", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269124" } ], "reference": [ { "type": "PubMed", "id": "23266757", "url": "https://glygen.org/publication/PubMed/23266757" } ] }, { "title": "The human uncoupling proteins 5 and 6 (UCP5/SLC25A14 and UCP6/SLC25A30) transport sulfur oxyanions, phosphate and dicarboxylates.", "journal": "Biochimica et biophysica acta. Bioenergetics", "date": "2019-09-01", "authors": "Gorgoglione Ruggiero, Porcelli Vito, Santoro Antonella, Daddabbo Lucia, Vozza Angelo, Monn\u00e9 Magnus, Di Noia Maria Antonietta, Palmieri Luigi, Fiermonte Giuseppe, Palmieri Ferdinando", "evidence": [ { "database": "UniProtKB", "id": "O95258", "url": "https://www.uniprot.org/uniprot/O95258" } ], "reference": [ { "type": "PubMed", "id": "31356773", "url": "https://glygen.org/publication/PubMed/31356773" } ] }, { "title": "On the mechanism of fatty acid-induced proton transport by mitochondrial uncoupling protein.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Garlid KD, Orosz DE, Modriansky M, Vassanelli S, Jezek P", "evidence": [ { "database": "Reactome", "id": "R-HSA-167826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-167826" } ], "reference": [ { "type": "PubMed", "id": "8576230", "url": "https://glygen.org/publication/PubMed/8576230" } ] }, { "title": "Photoactivated azido fatty acid irreversibly inhibits anion and proton transport through the mitochondrial uncoupling protein.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Jezek P, Hanus J, Semrad C, Garlid KD", "evidence": [ { "database": "Reactome", "id": "R-HSA-167826", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-167826" } ], "reference": [ { "type": "PubMed", "id": "8626410", "url": "https://glygen.org/publication/PubMed/8626410" } ] }, { "title": "BMCP1, a novel mitochondrial carrier with high expression in the central nervous system of humans and rodents, and respiration uncoupling activity in recombinant yeast.", "journal": "J. Biol. Chem.", "date": "1998", "authors": "Sanchis D, Fleury C, Chomiki N, Goubern M, Huang Q, Neverova M, Gregoire F, Easlick J, Raimbault S, Levi-Meyrueis C, Miroux B, Collins S, Seldin M, Richard D, Warden C, Bouillaud F, Ricquier D", "evidence": [ { "database": "UniProtKB", "id": "O95258", "url": "https://www.uniprot.org/uniprot/O95258" } ], "reference": [ { "type": "PubMed", "id": "9852133", "url": "https://glygen.org/publication/PubMed/9852133" } ] } ], "pathway": [ { "id": "R-HSA-167826", "name": "The fatty acid cycling model", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-167826", "resource": "Reactome", "description": "The fatty acid cycling model" }, { "id": "R-HSA-167827", "name": "The proton buffering model", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-167827", "resource": "Reactome", "description": "The proton buffering model" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A8I6A296-1", "protein_name": "Solute carrier family 25 (mitochondrial carrier, brain), member 14", "gene_name": "Slc25a14", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAAPLLPRRRLGYFRWFQCFRVGAAVAFPTVVASASQSSAELEQHQKSSALSHEMSGLNWKPFVYGGLASIVAEFGTFPVDLTKTRLQVQGQSIDVRFKEIKYRGMFHALFRIYREEGILALYSGIAPALLRQASYGTIKIGIYQSLKRLFVERLEDETLLINMICGVVSGVISSTIANPTDVLKIRMQAQGSLFQGSMIGSFIDIYQQEGTRGLWRGVVPTAQRAAIVVGVELPVYDITKKHLIVSGMLGDTILTHFVSSFTCGLAGALASNPVDVVRTRMMNQRAIVGHVDLYKGTLDGILKMWKHEGFFALYKGFWPNWLRLGPWNIIFFITYEQLKRLQI", "length": 344 }, "evidence": [ { "id": "45929232", "url": "http://www.informatics.jax.org/homology/45929232", "database": "MGI" }, { "id": "O95258", "url": "https://omabrowser.org/oma/group/O95258/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q7K566-1", "protein_name": "Mitochondrial uncoupling protein Bmcp", "gene_name": "Bmcp", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MGEVKDWRPFVYGGVASITAEFGTFPIDTTKTRLQIQGQKIDQSFSQLRYRGMTDAFVKISREEGLRALYSGIWPAVLRQATYGTIKFGTYYTLKKLANERGLLINEDGSERVWSNILCAAAAGAISSAIANPTDVLKVRMQVHGKGQHKGLLGCFGEIYKYEGVRGLWRGVGPTAQRAVVIASVELPVYDFCKLQLMNAFGDHVGNHFISSFIASLGSAIASTPIDVIRTRLMNQRPVSITMNGVVTAAATPKLYSGSLDCAVQTIRNEGLPALYKGFIPTWVRMGPWNIIFFITYEQLKKY", "length": 303 }, "evidence": [ { "id": "O95258", "url": "https://omabrowser.org/oma/group/O95258/", "database": "OMA" } ], "common_name": "Fruit fly" }, { "uniprot_canonical_ac": "Q9Z2B2-1", "protein_name": "Brain mitochondrial carrier protein 1", "gene_name": "Slc25a14", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MGIFPGIILIFLRVKFATAAVIVSGHQKSSTLSHEMSGLNWKPFVYGGLASIVAEFGTFPVDLTKTRLQVQGQSIDVRFKEIKYRGMFHALFRIYKEEGILALYSGIAPALLRQASYGTIKIGIYQSLKRLFVERLEDETLLINMICGVVSGVISSTIANPTDVLKIRMQAQGSLFQGSMIGSFIDIYQQEGTRGLWRGVVPTAQRAAIVVGVELPVYDITKKHLIVSGMLGDTILTHFVSSFTCGLAGALASNPVDVVRTRMMNQRAIVGHVDLYKGTLDGILKMWKHEGFFALYKGFWPNWLRLGPWNIIFFITYEQLKRLQI", "length": 325 }, "evidence": [ { "id": "45929232", "url": "http://www.informatics.jax.org/homology/45929232", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "O95258", "url": "https://www.uniprot.org/uniprot/O95258" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O95258", "url": "https://www.uniprot.org/uniprot/O95258" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O95258", "url": "https://www.uniprot.org/uniprot/O95258" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O95258", "url": "https://www.uniprot.org/uniprot/O95258" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "mitochondrial transport", "id": "GO:0006839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006839", "evidence": [ { "database": "UniProtKB", "id": "O95258", "url": "https://www.uniprot.org/uniprot/O95258" } ], "pmid": "" }, { "name": "regulation of cellular response to oxidative stress", "id": "GO:1900407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900407", "evidence": [ { "database": "UniProtKB", "id": "O95258", "url": "https://www.uniprot.org/uniprot/O95258" } ], "pmid": "" }, { "name": "inorganic anion transport", "id": "GO:0015698", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015698", "evidence": [ { "database": "UniProtKB", "id": "O95258", "url": "https://www.uniprot.org/uniprot/O95258" } ], "pmid": "" }, { "name": "aerobic respiration", "id": "GO:0009060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009060", "evidence": [ { "database": "UniProtKB", "id": "O95258", "url": "https://www.uniprot.org/uniprot/O95258" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "O95258", "url": "https://www.uniprot.org/uniprot/O95258" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "O95258", "url": "https://www.uniprot.org/uniprot/O95258" } ], "pmid": "" }, { "name": "proton transmembrane transporter activity", "id": "GO:0015078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015078", "evidence": [ { "database": "UniProtKB", "id": "O95258", "url": 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