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Description for Protein CYB5R3

cytochrome b5 reductase 3
5 total interacting proteins; 3 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 9/1)
(membrane: 2; microparticles: 1; platelet: 14; secretome: 2)
Summary:
This gene encodes cytochrome b5 reductase, which includes a membrane-bound form in somatic cells (anchored in the endoplasmic reticulum, mitochondrial and other membranes) and a soluble form in erythrocytes. The membrane-bound form exists mainly on the cytoplasmic side of the endoplasmic reticulum and functions in desaturation and elongation of fatty acids, in cholesterol biosynthesis, and in drug metabolism. The erythrocyte form is located in a soluble fraction of circulating erythrocytes and is involved in methemoglobin reduction. The membrane-bound form has both membrane-binding and catalytic domains, while the soluble form has only the catalytic domain. Alternate splicing results in multiple transcript variants. Mutations in this gene cause methemoglobinemias. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
1.6.2.2
KEGG - Orthology:
K00326
KEGG - Pathway(s):
hsa00520
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
Cytochrome b5 reductase isoform 1; Cytochrome b5 reductase isoform 2; Cytochrome b5 reductase soluble isoform; B5R; CYB5R; Diaphorase (NADH); Methemoglobin reductase; Cytochrome b5 reductase membrane-bound isoform
Approved Symbol:
CYB5R3
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 6
Human (de-) phosphorylation sites: 6; 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):

  • Flavin-Adenine Dinucleotide(db);
  • NADH(db);
  • Nicotinamide-Adenine-Dinucleotide(db)

    Associated Genetic Diseases:

  • Methemoglobinemia, type I(Pd);
  • Methemoglobinemia, type II(Pd);
  • NADH-cytochrome b5 reductase polymorphism(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 08942 Entrez Gene ID: 1727 OMIM ID: 613213 Swissprot Accession: P00387; B7Z7L3;