Source: hRBCD ; ID: IPI00328415
Marked as 'Integral membrane protein'
Confidence: high (present in two of the MS resources) Search PubMed for
(RBC AND this entry)

Gene names: CYB5R3 , DIA1
Protein names and data: NB5R3_HUMAN , NADH-cytochrome b5 reductase 3; B5R; Cytochrome b5 reductase; , Diaphorase-1; NADH-cytochrome b5 reductase 3 membrane-bound form; NADH-cytochrome b5 reductase 3 soluble form Lenght: 301 a.a.
Mass: 34235 Da
fasta formatted sequence

Function: Desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction.
Catalytic activity: NADH + 2 ferricytochrome b5 = NAD(+) + H(+) + 2 ferrocytochrome b5.
Cellular location: Isoform 1: Endoplasmic reticulum membrane; Lipid-anchor; Cytoplasmic side. Mitochondrion outer membrane; Lipid-anchor; Cytoplasmic side. Isoform 2: Cytoplasm. Note=Produces the soluble form found in erythrocytes.
Tissue specificity: Isoform 2 is expressed at late stages of erythroid maturation.

Genetic variants

Ser-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.

Database cross-references

UniProt: P00387
Ensembl: ENST00000352397
Ensembl: ENST00000361740
Ensembl: ENST00000396303
Ensembl: ENST00000402438
Ensembl: ENST00000407332
Ensembl: ENST00000407623
MIM: 250800
MIM: 613213
neXtProt: NX_P00387
Antibodypedia: P00387 (may not find the protein thus also not any antibody)
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