{ "uniprot_canonical_ac": "P00167-1", "uniprot_ac": "P00167", "uniprot_id": "CYB5_HUMAN", "mass": { "chemical_mass": 15330.0, "monoisotopic_mass": 15330.0 }, "refseq": { "ac": "NP_001177736", "name": "cytochrome b5 isoform 3", "summary": "The protein encoded by this gene is a membrane-bound cytochrome that reduces ferric hemoglobin (methemoglobin) to ferrous hemoglobin, which is required for stearyl-CoA-desaturase activity. Defects in this gene are a cause of type IV hereditary methemoglobinemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177736" }, "gene_names": [ { "name": "CYB5A", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P00167", "id": "P00167" }, { "name": "CYB5; MCB5; METAG", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177736", "id": "NP_001177736" }, { "name": "CYB5A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177736", "id": "NP_001177736" }, { "name": "CYB5", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P00167", "id": "P00167" } ], "protein_names": [ { "name": "Cytochrome b5", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P00167" }, { "name": "MCB5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00167" }, { "name": "Microsomal cytochrome b5 type A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00167" }, { "name": "cytochrome b5 isoform 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177736", "id": "NP_001177736" }, { "name": "type 1 cyt-b5; cytochrome b5 type A (microsomal); epididymis secretory sperm binding protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177736", "id": "NP_001177736" } ], "function": [ { "annotation": "An alternative CYB5A transcript is expressed in aneuploid ALL and enriched in relapse. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001177736", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177736" }, { "database": "PubMed", "id": "35436854", "url": "https://glygen.org/publication/PubMed/35436854" } ] }, { "annotation": "Cytochrome b5 is a membrane-bound hemoprotein functioning as an electron carrier for several membrane-bound oxygenases.", "evidence": [ { "database": "UniProtKB", "id": "P00167", "url": "https://www.uniprot.org/uniprot/P00167#function" } ] }, { "annotation": "Functional variants in cytochrome b5 type A (CYB5A) are enriched in Southwest American Indian individuals and associate with obesity.", "evidence": [ { "database": "RefSeq", "id": "NP_001177736", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177736" }, { "database": "PubMed", "id": "35043601", "url": "https://glygen.org/publication/PubMed/35043601" } ] }, { "annotation": "Lack of association between CYB5A gene rs1790834 polymorphism and the response to leflunomide in women with rheumatoid arthritis.", "evidence": [ { "database": "RefSeq", "id": "NP_001177736", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177736" }, { "database": "PubMed", "id": "34160668", "url": "https://glygen.org/publication/PubMed/34160668" } ] }, { "annotation": "Regulating Effect of Cytochrome b5 Overexpression on Human Breast Cancer Cells. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001177736", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177736" }, { "database": "PubMed", "id": "35889429", "url": "https://glygen.org/publication/PubMed/35889429" } ] }, { "annotation": "The association between CYB5A gene rs1790834 polymorphism and clinical improvement after 6 months of leflunomide treatment in women with rheumatoid arthritis.", "evidence": [ { "database": "RefSeq", "id": "NP_001177736", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177736" }, { "database": "PubMed", "id": "37289314", "url": "https://glygen.org/publication/PubMed/37289314" } ] }, { "annotation": "The protein encoded by this gene is a membrane-bound cytochrome that reduces ferric hemoglobin (methemoglobin) to ferrous hemoglobin, which is required for stearyl-CoA-desaturase activity. Defects in this gene are a cause of type IV hereditary methemoglobinemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001177736", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177736" } ] } ], "disease": [ { "disease_id": "DOID:0112316", "recommended_name": { "id": "DOID:0112316", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112316", "name": "methemoglobinemia and ambiguous genitalia", "description": "A disorder of sexual development characterized by severely reduced 17,20-lyase activity of CYP17A1, sex steroid deficiency with no deficiency in glucocorticoid and mineralocorticoid reserves, absent or disturbed pubertal development, and mild to severe methemoglobinemia that has_material_basis_in homozygous or compound heterozygous mutation in the CYB5A gene on chromosome 18q22.3." }, "synonyms": [ { "id": "DOID:0112316", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112316", "name": "METAG", "description": "" }, { "id": "DOID:0112316", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112316", "name": "methemoglobinemia type IV", "description": "" }, { "id": "DOID:0112316", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112316", "name": "pure isolated 17,20-lyase deficiency", "description": "" }, { "id": "DOID:0112316", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112316", "name": "methemoglobinemia due to deficiency of cytochrome b5", "description": "" }, { "id": "MONDO:0009605", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009605", "name": "methemoglobinemia type 4", "description": "Any methemoglobinemia in which the cause of the disease is a mutation in the CYB5A gene." }, { "id": "MONDO:0009605", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009605", "name": "CYB5A methemoglobinemia", "description": "" }, { "id": "MONDO:0009605", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009605", "name": "methemoglobinemia caused by mutation in CYB5A", "description": "" }, { "id": "MONDO:0009605", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009605", "name": "methemoglobinemia type 4", "description": "" }, { "id": "MONDO:0009605", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009605", "name": "METAG", "description": "" }, { "id": "MONDO:0009605", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009605", "name": "isolated 17,20-lyase deficiency, Pure", "description": "" }, { "id": "MONDO:0009605", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009605", "name": "methemoglobinemia and ambiguous genitalia", "description": "" }, { "id": "MONDO:0009605", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009605", "name": "methemoglobinemia due to deficiency of cytochrome B5", "description": "" }, { "id": "MONDO:0009605", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009605", "name": "methemoglobinemia due to deficiency of cytochrome B5, formerly", "description": "" }, { "id": "MONDO:0009605", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009605", "name": "methemoglobinemia type IV", "description": "" }, { "id": "MONDO:0009605", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009605", "name": "methemoglobinemia type IV, formerly", "description": "" }, { "id": "MIM:250790", "resource": "MIM", "url": "https://www.omim.org/entry/250790", "name": "Methemoglobinemia and ambiguous genitalia", "description": "Methemoglobinemia and ambiguous genitalia" } ], "evidence": [ { "id": "250790", "database": "MIM", "url": "https://www.omim.org/entry/250790" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "99.64", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166347", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166347" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "92.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166347", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166347" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "96.44", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166347", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166347" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "84.03", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000166347", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166347" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "97.87", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166347", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166347" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "98.22", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166347", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166347" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "94.65", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166347", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166347" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "98.78", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166347", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166347" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "91.82", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166347", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166347" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "98.1", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166347", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166347" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "99.59", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166347", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166347" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "96.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166347", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166347" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "98.67", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000166347", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166347" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P00167", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00167" } ], "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, 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"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", 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"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": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P00167", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00167" } ], "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": 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"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": 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"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": 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OS=Homo sapiens OX=9606 GN=CYB5A PE=1 SV=2 CANONICAL=P00167-1" }, "isoforms": [ { "isoform_ac": "J3KNC7-1", "url": "", "sequence": { "sequence": "MSKTFIIGELHPDDRPKLNKPPETLITTIDSSSSWWTNWVIPAISAVAVALMYRLYMAED", "length": 60, "header": "tr|J3KNC7-1|CYB5_HUMAN Computationally mapped isoform of Cytochrome b5 OS=Homo sapiens OX=9606 GN=CYB5A PE=1 SV=1 CANONICAL=P00167-1" }, "locus": { "chromosome": "18", "start_pos": 74263384, "end_pos": 74253587, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000299438.13", "url": "https://www.ensembl.org/id/ENST00000299438.13" }, { "database": "Ensembl Peptide", "id": "ENSP00000299438.9", "url": "https://www.ensembl.org/id/ENSP00000299438.9" } ] } }, { "isoform_ac": "P00167-1", "url": "", "sequence": { "sequence": "MAEQSDEAVKYYTLEEIQKHNHSKSTWLILHHKVYDLTKFLEEHPGGEEVLREQAGGDATENFEDVGHSTDAREMSKTFIIGELHPDDRPKLNKPPETLITTIDSSSSWWTNWVIPAISAVAVALMYRLYMAED", "length": 134, "header": "sp|P00167-1|CYB5_HUMAN Isoform 1 of Cytochrome b5 OS=Homo sapiens OX=9606 GN=CYB5A PE=1 SV=2 CANONICAL=P00167-1" }, "locus": { "chromosome": "18", "start_pos": 74291875, "end_pos": 74253587, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000340533.9", "url": "https://www.ensembl.org/id/ENST00000340533.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000341625.4", "url": "https://www.ensembl.org/id/ENSP00000341625.4" } ] } }, { "isoform_ac": "P00167-2", "url": "", "sequence": { "sequence": "MAEQSDEAVKYYTLEEIQKHNHSKSTWLILHHKVYDLTKFLEEHPGGEEVLREQAGGDATENFEDVGHSTDAREMSKTFIIGELHPDDRPKLNKPPEP", "length": 98, "header": "sp|P00167-2|CYB5_HUMAN Isoform 2 of Cytochrome b5 OS=Homo sapiens OX=9606 GN=CYB5A PE=1 SV=2 CANONICAL=P00167-1" }, "locus": { "chromosome": "18", "start_pos": 74291875, "end_pos": 74256848, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000494131.6", "url": "https://www.ensembl.org/id/ENST00000494131.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000436461.2", "url": "https://www.ensembl.org/id/ENSP00000436461.2" } ] } }, { "isoform_ac": "P00167-3", "url": "", "sequence": { "sequence": "MAEQSDEAVKYYTLEEIQKHNHSKSTWLILHHKVYDLTKFLEEHPGGEEVLREQAGGDATENFEDVGHSTDAREMSKTFIIGELHPETLITTIDSSSSWWTNWVIPAISAVAVALMYRLYMAED", "length": 124, "header": "sp|P00167-3|CYB5_HUMAN Isoform 3 of Cytochrome b5 OS=Homo sapiens OX=9606 GN=CYB5A PE=1 SV=2 CANONICAL=P00167-1" }, "locus": { "chromosome": "18", "start_pos": 74291875, "end_pos": 74253587, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000397914.4", "url": "https://www.ensembl.org/id/ENST00000397914.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000381011.4", "url": "https://www.ensembl.org/id/ENSP00000381011.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P00167", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P00167" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Human placental sodium-dependent vitamin C transporter (SVCT2): molecular cloning and transport function.", "journal": "Biochemical and biophysical research communications", "date": "1999", "authors": "Rajan DP, Huang W, Dutta B, Devoe LD, Leibach FH, Ganapathy V, Prasad PD", "evidence": [ { "database": "Reactome", "id": "R-HSA-196836", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196836" } ], "reference": [ { "type": "PubMed", "id": "10471399", "url": "https://glygen.org/publication/PubMed/10471399" } ] }, { "title": "Human Na(+)-dependent vitamin C transporter 1 (hSVCT1): primary structure, functional characteristics and evidence for a non-functional splice variant.", "journal": "Biochimica et biophysica acta", "date": "1999", "authors": "Wang H, Dutta B, Huang W, Devoe LD, Leibach FH, Ganapathy V, Prasad PD", "evidence": [ { "database": "Reactome", "id": "R-HSA-196836", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196836" } ], "reference": [ { "type": "PubMed", "id": "10556483", "url": "https://glygen.org/publication/PubMed/10556483" } ] }, { "title": "Cloning and functional characterization of the human sodium-dependent vitamin C transporters hSVCT1 and hSVCT2.", "journal": "FEBS letters", "date": "1999", "authors": "Daruwala R, Song J, Koh WS, Rumsey SC, Levine M", "evidence": [ { "database": "Reactome", "id": "R-HSA-196836", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196836" } ], "reference": [ { "type": "PubMed", "id": "10556521", "url": "https://glygen.org/publication/PubMed/10556521" } ] }, { "title": "Identification, characterization, and crystal structure of the Omega class glutathione transferases.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Board PG, Coggan M, Chelvanayagam G, Easteal S, Jermiin LS, Schulte GK, Danley DE, Hoth LR, Griffor MC, Kamath AV, Rosner MH, Chrunyk BA, Perregaux DE, Gabel CA, Geoghegan KF, Pandit J", "evidence": [ { "database": "Reactome", "id": "R-HSA-196836", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196836" } ], "reference": [ { "type": "PubMed", "id": "10783391", "url": "https://glygen.org/publication/PubMed/10783391" } ] }, { "title": "Dehydroascorbic acid transport by GLUT4 in Xenopus oocytes and isolated rat adipocytes.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Rumsey SC, Daruwala R, Al-Hasani H, Zarnowski MJ, Simpson IA, Levine M", "evidence": [ { "database": "Reactome", "id": "R-HSA-196836", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196836" } ], "reference": [ { "type": "PubMed", "id": "10862609", "url": "https://glygen.org/publication/PubMed/10862609" } ] }, { "title": "Vitamin C transport systems of mammalian cells.", "journal": "Molecular membrane biology", "date": "2001", "authors": "Liang WJ, Johnson D, Jarvis SM", "evidence": [ { "database": "Reactome", "id": "R-HSA-196836", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196836" } ], "reference": [ { "type": "PubMed", "id": "11396616", "url": "https://glygen.org/publication/PubMed/11396616" } ] }, { "title": "Characterization of the monomethylarsonate reductase and dehydroascorbate reductase activities of Omega class glutathione transferase variants: implications for arsenic metabolism and the age-at-onset of Alzheimer's and Parkinson's diseases.", "journal": "Pharmacogenetics and genomics", "date": "2005", "authors": "Schmuck EM, Board PG, Whitbread AK, Tetlow N, Cavanaugh JA, Blackburn AC, Masoumi A", "evidence": [ { "database": "Reactome", "id": "R-HSA-196836", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196836" } ], "reference": [ { "type": "PubMed", "id": "15970797", "url": "https://glygen.org/publication/PubMed/15970797" } ] }, { "title": "The human liver and reticulocyte cytochrome b5 mRNAs are products from a single gene.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1991", "authors": "Giordano SJ, Steggles AW", "evidence": [ { "database": "UniProtKB", "id": "P00167", "url": "https://www.uniprot.org/uniprot/P00167" } ], "reference": [ { "type": "PubMed", "id": "1712589", "url": "https://glygen.org/publication/PubMed/1712589" } ] }, { "title": "Isolated 17,20-lyase deficiency due to the cytochrome b5 mutation W27X.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2010", "authors": "Kok RC, Timmerman MA, Wolffenbuttel KP, Drop SL, de Jong FH", "evidence": [ { "database": "UniProtKB", "id": "P00167", "url": "https://www.uniprot.org/uniprot/P00167" } ], "reference": [ { "type": "PubMed", "id": "20080843", "url": "https://glygen.org/publication/PubMed/20080843" } ] }, { "title": "A missense mutation in the human cytochrome b5 gene causes 46,XY disorder of sex development due to true isolated 17,20 lyase deficiency.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2012", "authors": "Idkowiak J, Randell T, Dhir V, Patel P, Shackleton CH, Taylor NF, Krone N, Arlt W", "evidence": [ { "database": "UniProtKB", "id": "P00167", "url": "https://www.uniprot.org/uniprot/P00167" } ], "reference": [ { "type": "PubMed", "id": "22170710", "url": "https://glygen.org/publication/PubMed/22170710" } ] }, { "title": "Structure of cytochrome b5 and its topology in the microsomal membrane.", "journal": "Biochimica et biophysica acta", "date": "1989", "authors": "Ozols J", "evidence": [ { "database": "UniProtKB", "id": "P00167", "url": "https://www.uniprot.org/uniprot/P00167" } ], "reference": [ { "type": "PubMed", "id": "2752049", "url": "https://glygen.org/publication/PubMed/2752049" } ] }, { "title": "The complete nucleotide sequence of human liver cytochrome b5 mRNA.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1988", "authors": "Yoo M, Steggles A W", "evidence": [ { "database": "UniProtKB", "id": "P00167", "url": "https://www.uniprot.org/uniprot/P00167" } ], "reference": [ { "type": "PubMed", "id": "3178851", "url": "https://glygen.org/publication/PubMed/3178851" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P00167", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P00167" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Lack of association between CYB5A gene rs1790834 polymorphism and the response to leflunomide in women with rheumatoid arthritis.", "journal": "European journal of clinical pharmacology", "date": "2021", "authors": "Laczna M, Malinowski D, Paradowska-Gorycka A, Safranow K, Dziedziejko V, Pawlik A", "evidence": [ { "database": "RefSeq", "id": "NP_001177736", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177736" } ], "reference": [ { "type": "PubMed", "id": "34160668", "url": "https://glygen.org/publication/PubMed/34160668" } ] }, { "title": "Functional variants in cytochrome b5 type A (CYB5A) are enriched in Southwest American Indian individuals and associate with obesity.", "journal": "Obesity (Silver Spring, Md.)", "date": "2022", "authors": "Day SE, Traurig M, Kumar P, Piaggi P, Koroglu C, Kobes S, Hanson RL, Bogardus C, Baier LJ", "evidence": [ { "database": "RefSeq", "id": "NP_001177736", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177736" } ], "reference": [ { "type": "PubMed", "id": "35043601", "url": "https://glygen.org/publication/PubMed/35043601" } ] }, { "title": "An alternative CYB5A transcript is expressed in aneuploid ALL and enriched in relapse.", "journal": "BMC genomic data", "date": "2022", "authors": "Bartsch L, Schroeder MP, Hanzelmann S, Bastian L, Lazaro-Navarro J, Schlee C, Tanchez JO, Schulze V, Isaakidis K, Rieger MA, Gokbuget N, Eckert C, Serve H, Horstmann M, Schrappe M, Bruggemann M, Baldus CD, Neumann M", "evidence": [ { "database": "RefSeq", "id": "NP_001177736", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177736" } ], "reference": [ { "type": "PubMed", "id": "35436854", "url": "https://glygen.org/publication/PubMed/35436854" } ] }, { "title": "Regulating Effect of Cytochrome b(5) Overexpression on Human Breast Cancer Cells.", "journal": "Molecules (Basel, Switzerland)", "date": "2022", "authors": "Tong XY, Yang XZ, Gao SQ, Wang XJ, Wen GB, Lin YW", "evidence": [ { "database": "RefSeq", "id": "NP_001177736", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177736" } ], "reference": [ { "type": "PubMed", "id": "35889429", "url": "https://glygen.org/publication/PubMed/35889429" } ] }, { "title": "The association between CYB5A gene rs1790834 polymorphism and clinical improvement after 6\u00a0months of leflunomide treatment in women with rheumatoid arthritis.", "journal": "Clinical rheumatology", "date": "2023-09", "authors": "Machaj Filip, Rosik Jakub, Szostak Bartosz, Malinowski Damian, Safranow Krzysztof, Ol\u0119dzka Gabriela, Wiechec Emilia, Pawlik Andrzej", "evidence": [ { "database": "RefSeq", "id": "NP_001177736", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177736" } ], "reference": [ { "type": "PubMed", "id": "37289314", "url": "https://glygen.org/publication/PubMed/37289314" } ] }, { "title": "Amino acid sequences of cytochrome b5 from human, porcine, and bovine erythrocytes and comparison with liver microsomal cytochrome b5.", "journal": "J. Biochem.", "date": "1985", "authors": "Abe K, Kimura S, Kizawa R, Anan F K, Sugita Y", "evidence": [ { "database": "UniProtKB", "id": "P00167", "url": "https://www.uniprot.org/uniprot/P00167" } ], "reference": [ { "type": "PubMed", "id": "4030743", "url": "https://glygen.org/publication/PubMed/4030743" } ] }, { "title": "Structural studies of cytochrome b5. 3. Sequential studies on human liver cytochrome b5.", "journal": "J. Biochem.", "date": "1973", "authors": "Rashid M A, Hagihara B, Kobayashi M, Tani S, Tsugita A", "evidence": [ { "database": "UniProtKB", "id": "P00167", "url": "https://www.uniprot.org/uniprot/P00167" } ], "reference": [ { "type": "PubMed", "id": "4770377", "url": "https://glygen.org/publication/PubMed/4770377" } ] }, { "title": "Amino acid sequences of tryptic peptides of cytochromes b5 from microsomes of human, monkey, porcine, and chicken liver.", "journal": "J. Biol. Chem.", "date": "1971", "authors": "N\u00f3brega F G, Ozols J", "evidence": [ { "database": "UniProtKB", "id": "P00167", "url": "https://www.uniprot.org/uniprot/P00167" } ], "reference": [ { "type": "PubMed", "id": "4993957", "url": "https://glygen.org/publication/PubMed/4993957" } ] }, { "title": "Cytochrome b5 from a normal human liver. Isolation and the partial amino acid sequence.", "journal": "J. Biol. Chem.", "date": "1972", "authors": "Ozols J", "evidence": [ { "database": "UniProtKB", "id": "P00167", "url": "https://www.uniprot.org/uniprot/P00167" } ], "reference": [ { "type": "PubMed", "id": "5062820", "url": "https://glygen.org/publication/PubMed/5062820" } ] }, { "title": "A novel point mutation in a 3' splice site of the NADH-cytochrome b5 reductase gene results in immunologically undetectable enzyme and impaired NADH-dependent ascorbate regeneration in cultured fibroblasts of a patient with type II hereditary methemoglobinemia.", "journal": "American journal of human genetics", "date": "1995", "authors": "Shirabe K, Landi MT, Takeshita M, Uziel G, Fedrizzi E, Borgese N", "evidence": [ { "database": "Reactome", "id": "R-HSA-196836", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196836" } ], "reference": [ { "type": "PubMed", "id": "7668255", "url": "https://glygen.org/publication/PubMed/7668255" } ] }, { "title": "The isolation and characterization of the human cytochrome b5 gene.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1995", "authors": "Li X R, Giordano S J, Yoo M, Steggles A W", "evidence": [ { "database": "UniProtKB", "id": "P00167", "url": "https://www.uniprot.org/uniprot/P00167" } ], "reference": [ { "type": "PubMed", "id": "7733981", "url": "https://glygen.org/publication/PubMed/7733981" } ] }, { "title": "A splicing mutation in the cytochrome b5 gene from a patient with congenital methemoglobinemia and pseudohermaphrodism.", "journal": "Hum. Genet.", "date": "1994", "authors": "Giordano S J, Kaftory A, Steggles A W", "evidence": [ { "database": "UniProtKB", "id": "P00167", "url": "https://www.uniprot.org/uniprot/P00167" } ], "reference": [ { "type": "PubMed", "id": "8168836", "url": "https://glygen.org/publication/PubMed/8168836" } ] }, { "title": "NADH-cytochrome b5 reductase and cytochrome b5 isoforms as models for the study of post-translational targeting to the endoplasmic reticulum.", "journal": "FEBS letters", "date": "1993", "authors": "Borgese N, D'Arrigo A, De Silvestris M, Pietrini G", "evidence": [ { "database": "Reactome", "id": "R-HSA-196836", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196836" } ], "reference": [ { "type": "PubMed", "id": "8513896", "url": "https://glygen.org/publication/PubMed/8513896" } ] }, { "title": "Glucose transporter isoforms GLUT1 and GLUT3 transport dehydroascorbic acid.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Rumsey SC, Kwon O, Xu GW, Burant CF, Simpson I, Levine M", "evidence": [ { "database": "Reactome", "id": "R-HSA-196836", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196836" } ], "reference": [ { "type": "PubMed", "id": "9228080", "url": "https://glygen.org/publication/PubMed/9228080" } ] } ], "pathway": [ { "id": "hsa:1528", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1528", "resource": "KEGG Pathway" }, { "id": "R-HSA-196836", "name": "Vitamin C (ascorbate) metabolism", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196836", "resource": "Reactome", "description": "Vitamin C (ascorbate) metabolism" } ], "orthologs": [ { "uniprot_canonical_ac": "P00173-1", "protein_name": "Cytochrome b5", "gene_name": "Cyb5a", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAEQSDKDVKYYTLEEIQKHKDSKSTWVILHHKVYDLTKFLEEHPGGEEVLREQAGGDATENFEDVGHSTDARELSKTYIIGELHPDDRSKIAKPSETLITTVESNSSWWTNWVIPAISALVVALMYRLYMAED", "length": 134 }, "evidence": [ { 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