{ "uniprot_canonical_ac": "Q7KZN9-1", "uniprot_ac": "Q7KZN9", "uniprot_id": "COX15_HUMAN", "mass": { "chemical_mass": 46030.0, "monoisotopic_mass": 46030.0 }, "refseq": { "ac": "NP_001307903", "name": "cytochrome c oxidase assembly protein COX15 homolog isoform 9", "summary": "Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be essential for the biogenesis of COX formation and may function in the hydroxylation of heme O, according to the yeast mutant studies. This protein is predicted to contain 5 transmembrane domains localized in the mitochondrial inner membrane. Alternative splicing of this gene generates two transcript variants diverging in the 3' region. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307903" }, "gene_names": [ { "name": "COX15", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q7KZN9", "id": "Q7KZN9" }, { "name": "CEMCOX2; MC4DN6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307903", "id": "NP_001307903" }, { "name": "COX15", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307903", "id": "NP_001307903" } ], "protein_names": [ { "name": "Cytochrome c oxidase assembly protein COX15 homolog", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q7KZN9" }, { "name": "cytochrome c oxidase assembly protein COX15 homolog isoform 9", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307903", "id": "NP_001307903" }, { "name": "cytochrome c oxidase subunit 15; cytochrome c oxidase assembly protein COX15 homolog; cytochrome c oxidase assembly homolog 15; COX15 homolog, cytochrome c oxidase assembly protein; COX15, cytochrome c oxidase assembly homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307903", "id": "NP_001307903" } ], "function": [ { "annotation": "Cox15 is a novel oncogene that required for lung cancer cell proliferation.", "evidence": [ { "database": "RefSeq", "id": "NP_001307903", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307903" }, { "database": "PubMed", "id": "34547626", "url": "https://glygen.org/publication/PubMed/34547626" } ] }, { "annotation": "Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be essential for the biogenesis of COX formation and may function in the hydroxylation of heme O, according to the yeast mutant studies. This protein is predicted to contain 5 transmembrane domains localized in the mitochondrial inner membrane. Alternative splicing of this gene generates two transcript variants diverging in the 3' region. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001307903", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307903" } ] }, { "annotation": "May be involved in the biosynthesis of heme A.", "evidence": [ { "database": "UniProtKB", "id": "Q7KZN9", "url": "https://www.uniprot.org/uniprot/Q7KZN9#function" }, { "database": "PubMed", "id": "12474143", "url": "https://glygen.org/publication/PubMed/12474143" } ] }, { "annotation": "Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy", "evidence": [ { "database": "RefSeq", "id": "NP_001307903", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307903" }, { "database": "PubMed", "id": "12474143", "url": "https://glygen.org/publication/PubMed/12474143" } ] }, { "annotation": "Mutations of COX15 causing single amino acid conversions are associated with fatal infantile hypertrophic cardiomyopathy and the neurological disorder Leigh syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_001307903", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307903" }, { "database": "PubMed", "id": "26940873", "url": "https://glygen.org/publication/PubMed/26940873" } ] }, { "annotation": "Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_001307903", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307903" }, { "database": "PubMed", "id": "32232962", "url": "https://glygen.org/publication/PubMed/32232962" } ] } ], "disease": [ { "disease_id": "DOID:0080358", "recommended_name": { "id": "DOID:0080358", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080358", "name": "mitochondrial complex IV deficiency nuclear type 6", "description": "A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COX15 gene on chromosome 10q24." }, "synonyms": [ { "id": "DOID:0080358", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080358", "name": "MC4DN6", "description": "" }, { "id": "DOID:0080358", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080358", "name": "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2", "description": "" }, { "id": "MONDO:0014051", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014051", "name": "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2", "description": "Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COX15 gene." }, { "id": "MONDO:0014051", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014051", "name": "COX15 fatal infantile encephalocardiomyopathy", "description": "" }, { "id": "MONDO:0014051", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014051", "name": "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 2", "description": "" }, { "id": "MONDO:0014051", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014051", "name": "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2", "description": "" }, { "id": "MONDO:0014051", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014051", "name": "fatal infantile encephalocardiomyopathy caused by mutation in COX15", "description": "" }, { "id": "MONDO:0014051", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014051", "name": "mitochondrial complex IV deficiency, nuclear type 6", "description": "" }, { "id": "MONDO:0014051", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014051", "name": "CEMCOX2", "description": "" }, { "id": "MIM:615119", "resource": "MIM", "url": "https://www.omim.org/entry/615119", "name": "Mitochondrial complex IV deficiency, nuclear type 6", "description": "Mitochondrial complex IV deficiency, nuclear type 6" } ], "evidence": [ { "id": "615119", "database": "MIM", "url": "https://www.omim.org/entry/615119" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "86.26", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000014919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000014919" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "83.86", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000014919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000014919" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "84.75", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000014919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000014919" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "74.33", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000014919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000014919" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "90.57", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000014919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000014919" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "93.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000014919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000014919" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "80.91", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000014919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000014919" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "90.78", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000014919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000014919" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "89.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000014919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000014919" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "79", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000014919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000014919" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "89.5", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000014919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000014919" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "88.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000014919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000014919" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "90.08", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000014919", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000014919" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q7KZN9", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q7KZN9" } ], "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 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"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, 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"http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "Q7KZN9", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q7KZN9" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "Q7KZN9", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q7KZN9" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "Q7KZN9", "url": 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"id": "Q7KZN9-2", "url": "https://www.uniprot.org/uniprot/Q7KZN9-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MQRLLFPPLRALKGRQYLPLLAPRAAPRAQCDCIRRPLRPGQYSTISEVALQSGRGTVSLPSKAAERVVGRWLLVCSGTVAGAVILGGVTRLTESGLSMVDWHLIKEMKPPTSQEEWEAEFQRYQQFPEFKILNHDMTLTEFKFIWYMEYSHRMWGRLVGLVYILPAAYFWRKGWLSRGMKGRVLALCGLVCFQGLLGWYMVKSGLEEKSDSHDIPRVSQYRLAAHLGSALVLYCASLWTSLSLLLPPHKLPETHQLLQLRRFAHGTAGLVFLTALSGAFVAGLDAGLVYNSFPKMGESWIPEDLFTFSPILRNVFENPTMVQFDHRILGITSVTAITVLYFLSRRIPLPRRTKMAAVTLLALAYTQVGLGISTLLMYVPTPLAATHQSGSLALLTGALWLMNELRRVPK", "length": 410, "header": "sp|Q7KZN9-1|COX15_HUMAN Isoform 1 of Cytochrome c oxidase assembly protein COX15 homolog OS=Homo sapiens OX=9606 GN=COX15 PE=1 SV=1 CANONICAL=Q7KZN9-1" }, "isoforms": [ { "isoform_ac": "Q7KZN9-1", "url": "", "sequence": { "sequence": "MQRLLFPPLRALKGRQYLPLLAPRAAPRAQCDCIRRPLRPGQYSTISEVALQSGRGTVSLPSKAAERVVGRWLLVCSGTVAGAVILGGVTRLTESGLSMVDWHLIKEMKPPTSQEEWEAEFQRYQQFPEFKILNHDMTLTEFKFIWYMEYSHRMWGRLVGLVYILPAAYFWRKGWLSRGMKGRVLALCGLVCFQGLLGWYMVKSGLEEKSDSHDIPRVSQYRLAAHLGSALVLYCASLWTSLSLLLPPHKLPETHQLLQLRRFAHGTAGLVFLTALSGAFVAGLDAGLVYNSFPKMGESWIPEDLFTFSPILRNVFENPTMVQFDHRILGITSVTAITVLYFLSRRIPLPRRTKMAAVTLLALAYTQVGLGISTLLMYVPTPLAATHQSGSLALLTGALWLMNELRRVPK", "length": 410, "header": "sp|Q7KZN9-1|COX15_HUMAN Isoform 1 of Cytochrome c oxidase assembly protein COX15 homolog OS=Homo sapiens OX=9606 GN=COX15 PE=1 SV=1 CANONICAL=Q7KZN9-1" }, "locus": { "chromosome": "10", "start_pos": 99732049, "end_pos": 99714590, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000016171.6", "url": "https://www.ensembl.org/id/ENST00000016171.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000016171.6", "url": "https://www.ensembl.org/id/ENSP00000016171.6" } ] } }, { "isoform_ac": "Q7KZN9-2", "url": "", "sequence": { "sequence": "MQRLLFPPLRALKGRQYLPLLAPRAAPRAQCDCIRRPLRPGQYSTISEVALQSGRGTVSLPSKAAERVVGRWLLVCSGTVAGAVILGGVTRLTESGLSMVDWHLIKEMKPPTSQEEWEAEFQRYQQFPEFKILNHDMTLTEFKFIWYMEYSHRMWGRLVGLVYILPAAYFWRKGWLSRGMKGRVLALCGLVCFQGLLGWYMVKSGLEEKSDSHDIPRVSQYRLAAHLGSALVLYCASLWTSLSLLLPPHKLPETHQLLQLRRFAHGTAGLVFLTALSGAFVAGLDAGLVYNSFPKMGESWIPEDLFTFSPILRNVFENPTMVQFDHRILGITSVTAITVLYFLSRRIPLPRRTKMAAVTLLALAYTQGPVLFNFTFKISDLDEGIRNI", "length": 388, "header": "sp|Q7KZN9-2|COX15_HUMAN Isoform 2 of Cytochrome c oxidase assembly protein COX15 homolog OS=Homo sapiens OX=9606 GN=COX15 PE=1 SV=1 CANONICAL=Q7KZN9-1" }, "locus": { "chromosome": "10", "start_pos": 99732049, "end_pos": 99713417, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000370483.9", "url": "https://www.ensembl.org/id/ENST00000370483.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000359514.5", "url": "https://www.ensembl.org/id/ENSP00000359514.5" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "Q7KZN9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7KZN9" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Novel molecular defects of the delta-aminolevulinate dehydratase gene in a patient with inherited acute hepatic porphyria.", "journal": "Hepatology (Baltimore, Md.)", "date": "2000", "authors": "Akagi R, Shimizu R, Furuyama K, Doss MO, Sassa S", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "10706561", "url": "https://glygen.org/publication/PubMed/10706561" } ] }, { "title": "The molecular mechanism of lead inhibition of human porphobilinogen synthase.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Jaffe EK, Martins J, Li J, Kervinen J, Dunbrack RL Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "11032836", "url": "https://glygen.org/publication/PubMed/11032836" } ] }, { "title": "Mechanistic implications of mutations to the active site lysine of porphobilinogen synthase.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Mitchell LW, Volin M, Martins J, Jaffe EK", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "11032841", "url": "https://glygen.org/publication/PubMed/11032841" } ] }, { "title": "The 2.0 A structure of human ferrochelatase, the terminal enzyme of heme biosynthesis.", "journal": "Nature structural biology", "date": "2001", "authors": "Wu CK, Dailey HA, Rose JP, Burden A, Sellers VM, Wang BC", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "11175906", "url": "https://glygen.org/publication/PubMed/11175906" } ] }, { "title": "Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy.", "journal": "Am. J. Hum. Genet.", "date": "2003", "authors": "Antonicka H, Mattman A, Carlson CG, Glerum DM, Hoffbuhr KC, Leary SC, Kennaway NG, Shoubridge EA", "evidence": [ { "database": "UniProtKB", "id": "Q7KZN9", "url": "https://www.uniprot.org/uniprot/Q7KZN9" }, { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" }, { "database": "RefSeq", "id": "NP_001307903", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307903" } ], "reference": [ { "type": "PubMed", "id": "12474143", "url": "https://glygen.org/publication/PubMed/12474143" } ] }, { "title": "Human porphobilinogen deaminase mutations in the investigation of the mechanism of dipyrromethane cofactor assembly and tetrapyrrole formation.", "journal": "Biochemical Society transactions", "date": "2003", "authors": "Shoolingin-Jordan PM, Al-Dbass A, McNeill LA, Sarwar M, Butler D", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "12773194", "url": "https://glygen.org/publication/PubMed/12773194" } ] }, { "title": "Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome.", "journal": "J. Med. Genet.", "date": "2004", "authors": "Oquendo CE, Antonicka H, Shoubridge EA, Reardon W, Brown GK", "evidence": [ { "database": "UniProtKB", "id": "Q7KZN9", "url": "https://www.uniprot.org/uniprot/Q7KZN9" }, { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "15235026", "url": "https://glygen.org/publication/PubMed/15235026" } ] }, { "title": "Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency.", "journal": "J. Med. Genet.", "date": "2005", "authors": "Bugiani M, Tiranti V, Farina L, Uziel G, Zeviani M", "evidence": [ { "database": "UniProtKB", "id": "Q7KZN9", "url": "https://www.uniprot.org/uniprot/Q7KZN9" }, { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "15863660", "url": "https://glygen.org/publication/PubMed/15863660" } ] }, { "title": "Crystal structure of 5-aminolevulinate synthase, the first enzyme of heme biosynthesis, and its link to XLSA in humans.", "journal": "The EMBO journal", "date": "2005", "authors": "Astner I, Schulze JO, van den Heuvel J, Jahn D, Schubert WD, Heinz DW", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "16121195", "url": "https://glygen.org/publication/PubMed/16121195" } ] }, { "title": "Structural basis of hereditary coproporphyria.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2005", "authors": "Lee DS, Flachsova E, Bodnarova M, Demeler B, Martasek P, Raman CS", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "16176984", "url": "https://glygen.org/publication/PubMed/16176984" } ] }, { "title": "Kinetic evaluation of human cloned coproporphyrinogen oxidase using a ring isomer of the natural substrate.", "journal": "Medical science monitor : international medical journal of experimental and clinical research", "date": "2005", "authors": "Cooper CL, Lash TD, Jones MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "16258391", "url": "https://glygen.org/publication/PubMed/16258391" } ] }, { "title": "Biosynthesis of delta-aminolevulinic acid and the regulation of heme formation by immature erythroid cells in man.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Gardner LC, Smith SJ, Cox TM", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "1939222", "url": "https://glygen.org/publication/PubMed/1939222" } ] }, { "title": "ABCG2 transports and transfers heme to albumin through its large extracellular loop.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Desuzinges-Mandon E, Arnaud O, Martinez L, Huche F, Di Pietro A, Falson P", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "20705604", "url": "https://glygen.org/publication/PubMed/20705604" } ] }, { "title": "Infantile cardioencephalopathy due to a COX15 gene defect: report and review.", "journal": "Am. J. Med. Genet. A", "date": "2011", "authors": "Alfadhel M, Lillquist YP, Waters PJ, Sinclair G, Struys E, McFadden D, Hendson G, Hyams L, Shoffner J, Vallance HD", "evidence": [ { "database": "UniProtKB", "id": "Q7KZN9", "url": "https://www.uniprot.org/uniprot/Q7KZN9" } ], "reference": [ { "type": "PubMed", "id": "21412973", "url": "https://glygen.org/publication/PubMed/21412973" } ] }, { "title": "Analysis of Oligomerization Properties of Heme a Synthase Provides Insights into Its Function in Eukaryotes.", "journal": "The Journal of biological chemistry", "date": "2016", "authors": "Swenson S, Cannon A, Harris NJ, Taylor NG, Fox JL, Khalimonchuk O", "evidence": [ { "database": "RefSeq", "id": "NP_001307903", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307903" } ], "reference": [ { "type": "PubMed", "id": "26940873", "url": "https://glygen.org/publication/PubMed/26940873" } ] }, { "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": "Q7KZN9", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7KZN9" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome.", "journal": "American journal of medical genetics. Part A", "date": "2020", "authors": "Halperin D, Drabkin M, Wormser O, Yogev Y, Dolgin V, Shorer Z, Gradstein L, Shelef I, Flusser H, Birk OS", "evidence": [ { "database": "RefSeq", "id": "NP_001307903", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307903" } ], "reference": [ { "type": "PubMed", "id": "32232962", "url": "https://glygen.org/publication/PubMed/32232962" } ] }, { "title": "Cox15 is a novel oncogene that required for lung cancer cell proliferation.", "journal": "Biochemical and biophysical research communications", "date": "2021", "authors": "Zhang C, Li N, Liu YY, Yuan T, Yang S, Wang XP", "evidence": [ { "database": "RefSeq", "id": "NP_001307903", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307903" } ], "reference": [ { "type": "PubMed", "id": "34547626", "url": "https://glygen.org/publication/PubMed/34547626" } ] }, { "title": "Purification and properties of uroporphyrinogen III synthase from human erythrocytes.", "journal": "The Journal of biological chemistry", "date": "1987", "authors": "Tsai SF, Bishop DF, Desnick RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "3805019", "url": "https://glygen.org/publication/PubMed/3805019" } ] }, { "title": "Evidence that the coproporphyrinogen oxidase activity of rat liver is situated in the intermembrane space of mitochondria.", "journal": "The Biochemical journal", "date": "1978", "authors": "Elder GH, Evans JO", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "666752", "url": "https://glygen.org/publication/PubMed/666752" } ] }, { "title": "Purification and properties of uroporphyrinogen decarboxylase from human erythrocytes. A single enzyme catalyzing the four sequential decarboxylations of uroporphyrinogens I and III.", "journal": "The Journal of biological chemistry", "date": "1983", "authors": "de Verneuil H, Sassa S, Kappas A", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "6822570", "url": "https://glygen.org/publication/PubMed/6822570" } ] }, { "title": "Purification and properties of uroporphyrinogen I synthase from human erythrocytes. Identification of stable enzyme-substrate intermediates.", "journal": "The Journal of biological chemistry", "date": "1980", "authors": "Anderson PM, Desnick RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "7354069", "url": "https://glygen.org/publication/PubMed/7354069" } ] }, { "title": "Porphobilinogen deaminase and uroporphyrinogen III synthase: structure, molecular biology, and mechanism.", "journal": "Journal of bioenergetics and biomembranes", "date": "1995", "authors": "Shoolingin-Jordan PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "7592565", "url": "https://glygen.org/publication/PubMed/7592565" } ] }, { "title": "Isolation of a human cDNA for heme A:farnesyltransferase by functional complementation of a yeast cox10 mutant.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1994", "authors": "Glerum DM, Tzagoloff A", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "8078902", "url": "https://glygen.org/publication/PubMed/8078902" } ] }, { "title": "Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria.", "journal": "American journal of human genetics", "date": "1996", "authors": "Moran-Jimenez MJ, Ged C, Romana M, Enriquez De Salamanca R, Taieb A, Topi G, D'Alessandro L, de Verneuil H", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "8644733", "url": "https://glygen.org/publication/PubMed/8644733" } ] }, { "title": "Human protoporphyrinogen oxidase: expression, purification, and characterization of the cloned enzyme.", "journal": "Protein science : a publication of the Protein Society", "date": "1996", "authors": "Dailey TA, Dailey HA", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "8771201", "url": "https://glygen.org/publication/PubMed/8771201" } ] }, { "title": "Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene.", "journal": "Genomics", "date": "1997", "authors": "Murakami T, Reiter LT, Lupski JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "9177788", "url": "https://glygen.org/publication/PubMed/9177788" } ] }, { "title": "Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain.", "journal": "Genomics", "date": "1998", "authors": "Petruzzella V, Tiranti V, Fernandez P, Ianna P, Carrozzo R, Zeviani M", "evidence": [ { "database": "UniProtKB", "id": "Q7KZN9", "url": "https://www.uniprot.org/uniprot/Q7KZN9" }, { "database": "Reactome", "id": "R-HSA-189451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451" } ], "reference": [ { "type": "PubMed", "id": "9878253", "url": "https://glygen.org/publication/PubMed/9878253" } ] } ], "pathway": [ { "id": "hsa:1355", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1355", "resource": "KEGG Pathway" }, { "id": "R-HSA-189451", "name": "Heme biosynthesis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189451", "resource": "Reactome", "description": "Heme biosynthesis" } ], "orthologs": [ { "uniprot_canonical_ac": "D4A414-1", "protein_name": "Cytochrome c oxidase assembly homolog COX15", "gene_name": "Cox15", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MQRLFLPPLKALMGSRNVGLLVPKAASRAQCGGGSYGGRRPLRPGQYGTITEVALQSGKGTVSLPSRAAERAVGRWLLVCSGTVAGAVILGGVTRLTESGLSMVDWHLIKEMKPPTSQEEWEAEFQKYQQFPEFKILNHDMTLAEFKFIWYMEYSHRMWGRAVGLAYILPAAYFWRKGWLNRGMKGRVLALCGLVCFQGLLGWYMVKSGLEEKPESYDIPRVSQYRLAAHLGSALILYCGSLWTSLSLLLPQHKIPETRQLLWLRRFAGGTAGLVFLTALSGAFVAGLDAGLVYNSFPKMGESWIPEDLLTFSPILKNVFENPTMVQFDHRLLGVTSVTAITMLYFLSRRIPLPRRTKMAAVTLLALAYAQVALGISTLLMYVPTPLAATHQSGSLALLSGALWLMNELRRVPK", "length": 414 }, "evidence": [ { "id": "45237822", "url": "http://www.informatics.jax.org/homology/45237822", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P40086-1", "protein_name": "Cytochrome c oxidase assembly protein COX15", "gene_name": "COX15", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MLFRNIEVGRQAAKLLTRTSSRLAWQSIGASRNISTIRQQIRKTQLYNFKKTVSIRPFSLSSPVFKPHVASESNPIESRLKTSKNVAYWLIGTSGLVFGIVVLGGLTRLTESGLSITEWKPVTGTLPPMNQKEWEEEFIKYKESPEFKLLNSHIDLDEFKFIFFMEWIHRLWGRAIGAVFILPAVYFAVSKKTSGHVNKRLFGLAGLLGLQGFVGWWMVKSGLDQEQLDARKSKPTVSQYRLTTHLGTAFFLYMGMLWTGLEILRECKWIKNPVQAISLFKKLDNPAIGPMRKISLALLAVSFLTAMSGGMVAGLDAGWVYNTWPKMGERWFPSSRELMDENFCRREDKKDLWWRNLLENPVTVQLVHRTCAYVAFTSVLAAHMYAIKKKAVIPRNAMTSLHVMMGVVTLQATLGILTILYLVPISLASIHQAGALALLTSSLVFASQLRKPRAPMRNVIITLPHSSKVTSGKILSEASKLASKPL", "length": 486 }, "evidence": [ { "id": "Q7KZN9", "url": "https://omabrowser.org/oma/group/Q7KZN9/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "Q8BJ03-1", "protein_name": "Cytochrome c oxidase assembly protein COX15 homolog", "gene_name": "Cox15", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MQRLLLPSLRALTGSRNVGLLVPRVASRTQCGSSCGSQRPLRPGQYSTITEVALQSGKGTVSLPSRAAERAVGRWLLVCSGTVAGAVILGGVTRLTESGLSMVDWHLIKEMKPPTSQEEWEAEFQKYQQFPEFKILNHDMTLAEFKFIWYMEYSHRMWGRAVGLAYILPAAYFWRKGWLNRGMKGRVLALCGLVCFQGLLGWYMVKSGLEEKPESYDIPRVSQYRLAAHLGSALVLYCASLWTSLSLLLPQHKLPETRQLLWLRRFAGGTAGLVFLTALSGAFVAGLDAGLVYNSFPKMGESWIPEDLLTFSPVLKNVFENPTMVQFDHRLLGVTSVTAITVLYFLSRRIPLPRRTKMAAVTLLALAYAQVALGISTLLMYVPTPLAATHQSGSLALLSGALWLMNELRRVPK", "length": 413 }, "evidence": [ { "id": "45237822", "url": "http://www.informatics.jax.org/homology/45237822", "database": "MGI" }, { "id": "Q7KZN9", "url": "https://omabrowser.org/oma/group/Q7KZN9/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "Q7KZN9", "url": "https://www.uniprot.org/uniprot/Q7KZN9" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q7KZN9", "url": "https://www.uniprot.org/uniprot/Q7KZN9" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor", "id": "GO:0016653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016653", "evidence": [ { "database": "UniProtKB", "id": "Q7KZN9", "url": "https://www.uniprot.org/uniprot/Q7KZN9" } ], "pmid": "" }, { "name": "cytochrome-c oxidase activity", "id": "GO:0004129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004129", "evidence": [ { "database": "UniProtKB", "id": "Q7KZN9", "url": "https://www.uniprot.org/uniprot/Q7KZN9" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on the CH-CH group of donors", "id": "GO:0016627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016627", "evidence": [ { "database": "UniProtKB", "id": "Q7KZN9", "url": "https://www.uniprot.org/uniprot/Q7KZN9" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q7KZN9", "url": "https://www.uniprot.org/uniprot/Q7KZN9" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q7KZN9", "url": "https://www.uniprot.org/uniprot/Q7KZN9" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q7KZN9", "url": "https://www.uniprot.org/uniprot/Q7KZN9" } ], "pmid": "" }, { "name": "mitochondrial respirasome", "id": "GO:0005746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005746", "evidence": [ { "database": "UniProtKB", "id": "Q7KZN9", "url": "https://www.uniprot.org/uniprot/Q7KZN9" } ], "pmid": "" }, { "name": "cytochrome complex", "id": "GO:0070069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070069", "evidence": [ { "database": "UniProtKB", "id": "Q7KZN9", "url": "https://www.uniprot.org/uniprot/Q7KZN9" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 7, "go_terms": [ { "name": "respiratory gaseous exchange by respiratory system", "id": "GO:0007585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007585", "evidence": [ { "database": "UniProtKB", "id": "Q7KZN9", "url": "https://www.uniprot.org/uniprot/Q7KZN9" } ], "pmid": "" }, { "name": "mitochondrial electron transport, cytochrome c to oxygen", "id": "GO:0006123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006123", "evidence": [ { "database": "UniProtKB", "id": "Q7KZN9", "url": "https://www.uniprot.org/uniprot/Q7KZN9" } ], "pmid": "" }, { "name": "heme biosynthetic process", "id": "GO:0006783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006783", "evidence": [ { "database": "UniProtKB", "id": "Q7KZN9", "url": "https://www.uniprot.org/uniprot/Q7KZN9" } ], "pmid": "" }, { "name": "heme A biosynthetic process", "id": "GO:0006784", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006784", "evidence": [ { "database": "UniProtKB", "id": "Q7KZN9", "url": "https://www.uniprot.org/uniprot/Q7KZN9" } ], "pmid": "" }, { "name": "respiratory chain complex IV assembly", "id": "GO:0008535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008535", "evidence": [ { "database": "UniProtKB", "id": "Q7KZN9", "url": "https://www.uniprot.org/uniprot/Q7KZN9" } ], "pmid": "" }, { "name": "cellular respiration", "id": "GO:0045333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045333", "evidence": [ { "database": "UniProtKB", "id": "Q7KZN9", "url": "https://www.uniprot.org/uniprot/Q7KZN9" } ], "pmid": "" }, { "name": "proton transmembrane transport", "id": "GO:1902600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902600", "evidence": [ { "database": "UniProtKB", "id": "Q7KZN9", "url": "https://www.uniprot.org/uniprot/Q7KZN9" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 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", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 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", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": 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