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Description for Protein CYB5A

cytochrome b5 type A (microsomal)
6 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(membrane: 1)
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] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Cytochrome b-5 isoform 2; MCB5; Microsomal cytochrome b5; CYB5; Cytochrome b-5 isoform 1
    Approved Symbol:
    CYB5A
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • Dimethyl Propionate Ester Heme(db);
  • Heme(db)

    Associated Genetic Diseases:

  • Methemoglobinemia, type IV, with male pseudohermaphrodism(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 08941 Entrez Gene ID: 1528 OMIM ID: 613218 Swissprot Accession: P00167;