CYB5R3

GENE INFORMATION

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Gene name

CYB5R3 (HGNC Symbol)

Synonyms

DIA1

Description

cytochrome b5 reductase 3 (HGNC Symbol)

Entrez gene 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, Jan 2010]

Chromosome

22 (Chromosome progress)

Cytoband

q13.2

Chromosome location (bp)

43013846 - 43045574

Ensembl

ENSG00000100243 (version 73.37)

Entrez gene

1727

UniProt

P00387 (UniProt - Evidence at protein level)

neXtProt

NX_P00387

Antibodypedia

CYB5R3 antibodies
 

PROTEIN VIEW

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CYB5R3-001
 
CYB5R3-002
 
CYB5R3-003
 
CYB5R3-006
 
CYB5R3-007
 
CYB5R3-201
 
CYB5R3-202
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CYB5R3-001 ENSP00000338461
ENST00000352397
P00387
Show all »
Show » Show » 301 34.2 No 1
CYB5R3-002 ENSP00000384834
ENST00000407623
P00387
Show all »
Show » Show » 278 31.6 No 0
CYB5R3-003 ENSP00000384457
ENST00000407332
P00387
Show all »
Show » Show » 278 31.6 No 0
CYB5R3-006 ENSP00000403439
ENST00000438270
B1AHF3
Show all »
Show » 147 16.7 No 0
CYB5R3-007 ENSP00000385679
ENST00000402438
P00387
Show all »
Show » Show » 278 31.6 No 0
CYB5R3-201 ENSP00000354468
ENST00000361740
P00387
Show all »
Show » Show » 334 38.2 No 1
CYB5R3-202 ENSP00000379597
ENST00000396303
P00387
Show all »
Show » Show » 278 31.6 No 0