LMPD Database

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LMP006716

UniProt Annotations

Entry Information
Gene Namecytochrome b5 reductase 3
Protein EntryNB5R3_HUMAN
UniProt IDP00387
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative promoter usage, Alternative splicing; Named isoforms=3; Name=1; Synonyms=M; IsoId=P00387-1; Sequence=Displayed; Name=2; Synonyms=S; IsoId=P00387-2; Sequence=VSP_010200; Name=3; IsoId=P00387-3; Sequence=VSP_042827; Note=No experimental confirmation available.;
Catalytic ActivityNADH + 2 ferricytochrome b5 = NAD(+) + H(+) + 2 ferrocytochrome b5.
CofactorName=FAD; Xref=ChEBI
DiseaseMethemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM
FunctionDesaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction.
PolymorphismSer-117 seems to only be found in persons of African origin. The allele frequency is 0.23 in African Americans. It was not found in Caucasians, Asians, Indo-Aryans, or Arabs. There seems to be no effect on the enzyme activity.
SimilarityBelongs to the flavoprotein pyridine nucleotide cytochrome reductase family.
SimilarityContains 1 FAD-binding FR-type domain.
Subcellular LocationIsoform 1: Endoplasmic reticulum membrane; Lipid-anchor; Cytoplasmic side. Mitochondrion outer membrane; Lipid-anchor; Cytoplasmic side.
Subcellular LocationIsoform 2: Cytoplasm. Note=Produces the soluble form found in erythrocytes.
SubunitComponent of a complex composed of cytochrome b5, NADH- cytochrome b5 reductase (CYB5R3) and MOSC2.
Tissue SpecificityIsoform 2 is expressed at late stages of erythroid maturation.
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/dia1/";