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LMP006716

Record overview

LMPD IDLMP006716
Gene ID1727
SpeciesHomo sapiens (Human)
Gene Namecytochrome b5 reductase 3
Gene SymbolCYB5R3
SynonymsB5R; DIA1
Alternate namesNADH-cytochrome b5 reductase 3; diaphorase-1; NADH-cytochrome b5 reductase 3 soluble form; NADH-cytochrome b5 reductase 3 membrane-bound form
Chromosome22
Map Location22q13.2
EC Number1.6.2.2
SummaryThis 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, Jan 2010]
OrthologsView orthologs and multiple alignments for CYB5R3

Proteins

NADH-cytochrome b5 reductase 3 isoform 1
Refseq ID:NP_000389
Protein GI:4503327
UniProt ID:P00387
mRNA ID:NM_000398
Length:301
RefSeq Status:REVIEWED
MGAQLSTLGHMVLFPVWFLYSLLMKLFQRSTPAITLESPDIKYPLRLIDREIISHDTRRFRFALPSPQHILGLPVGQHIYLSARIDGNLVVRPYTPISSD
DDKGFVDLVIKVYFKDTHPKFPAGGKMSQYLESMQIGDTIEFRGPSGLLVYQGKGKFAIRPDKKSNPIIRTVKSVGMIAGGTGITPMLQVIRAIMKDPDD
HTVCHLLFANQTEKDILLRPELEELRNKHSARFKLWYTLDRAPEAWDYGQGFVNEEMIRDHLPPPEEEPLVLMCGPPPMIQYACLPNLDHVGHPTERCFV
F
 
NADH-cytochrome b5 reductase 3 isoform 2
Refseq ID:NP_001123291
Protein GI:193794826
UniProt ID:P00387
mRNA ID:NM_001129819
Length:278
RefSeq Status:REVIEWED
MKLFQRSTPAITLESPDIKYPLRLIDREIISHDTRRFRFALPSPQHILGLPVGQHIYLSARIDGNLVVRPYTPISSDDDKGFVDLVIKVYFKDTHPKFPA
GGKMSQYLESMQIGDTIEFRGPSGLLVYQGKGKFAIRPDKKSNPIIRTVKSVGMIAGGTGITPMLQVIRAIMKDPDDHTVCHLLFANQTEKDILLRPELE
ELRNKHSARFKLWYTLDRAPEAWDYGQGFVNEEMIRDHLPPPEEEPLVLMCGPPPMIQYACLPNLDHVGHPTERCFVF
 
NADH-cytochrome b5 reductase 3 isoform 2
Refseq ID:NP_015565
Protein GI:6552328
UniProt ID:P00387
mRNA ID:NM_007326
Length:278
RefSeq Status:REVIEWED
Protein sequence is identical to GI:193794826 (mRNA isoform)
 
mat_peptide: 27..301
product: NADH-cytochrome b5 reductase 3 soluble form
experiment: experimental evidence, no additional details recorded
note: propagated from UniProtKB/Swiss-Prot (P00387.3)
calculated_mol_wt: 31256
peptide sequence: 
FQRSTPAITLESPDIKYPLRLIDREIISHDTRRFRFALPSPQHILGLPVGQHIYLSARIDGNLVVRPYTPISSDDDKGFVDLVIKVYFKDTHPKFPAGGK
MSQYLESMQIGDTIEFRGPSGLLVYQGKGKFAIRPDKKSNPIIRTVKSVGMIAGGTGITPMLQVIRAIMKDPDDHTVCHLLFANQTEKDILLRPELEELR
NKHSARFKLWYTLDRAPEAWDYGQGFVNEEMIRDHLPPPEEEPLVLMCGPPPMIQYACLPNLDHVGHPTERCFVF
 
NADH-cytochrome b5 reductase 3 isoform 3
Refseq ID:NP_001165131
Protein GI:284448551
UniProt ID:P00387
mRNA ID:NM_001171660
Length:334
RefSeq Status:REVIEWED
MNRSLLVGCMQSKDIWGREESICERLKQDGLDVERAESWELGHMVLFPVWFLYSLLMKLFQRSTPAITLESPDIKYPLRLIDREIISHDTRRFRFALPSP
QHILGLPVGQHIYLSARIDGNLVVRPYTPISSDDDKGFVDLVIKVYFKDTHPKFPAGGKMSQYLESMQIGDTIEFRGPSGLLVYQGKGKFAIRPDKKSNP
IIRTVKSVGMIAGGTGITPMLQVIRAIMKDPDDHTVCHLLFANQTEKDILLRPELEELRNKHSARFKLWYTLDRAPEAWDYGQGFVNEEMIRDHLPPPEE
EPLVLMCGPPPMIQYACLPNLDHVGHPTERCFVF