InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: CYB5R3

Summary

InnateDB Gene

IDBG-10149.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CYB5R3

Gene Name

cytochrome b5 reductase 3

Synonyms

B5R; DIA1

Species

Homo sapiens

Ensembl Gene

ENSG00000100243

Encoded Proteins

IDBP-10151

cytochrome b5 reductase 3

IDBP-10153

cytochrome b5 reductase 3

IDBP-293053

cytochrome b5 reductase 3

IDBP-293052

cytochrome b5 reductase 3

IDBP-293054

cytochrome b5 reductase 3

IDBP-378942

cytochrome b5 reductase 3

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 22:42617840-42649568

Strand

Reverse strand

Band

q13.2

Transcripts

ENST00000352397	ENSP00000338461
ENST00000361740	ENSP00000354468
ENST00000407623	ENSP00000384834
ENST00000407332	ENSP00000384457
ENST00000402438	ENSP00000385679
ENST00000438270	ENSP00000403439
ENST00000470741
ENST00000466276

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	10 [view]
Protein-Protein	10 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004128	cytochrome-b5 reductase activity, acting on NAD(P)H
GO:0005515	protein binding
GO:0016208	AMP binding
GO:0016491	oxidoreductase activity
GO:0043531	ADP binding
GO:0050660	flavin adenine dinucleotide binding
GO:0051287	NAD binding
GO:0071949	FAD binding

Biological Process

GO:0006695	cholesterol biosynthetic process
GO:0006766	vitamin metabolic process
GO:0006767	water-soluble vitamin metabolic process
GO:0008015	blood circulation
GO:0019852	L-ascorbic acid metabolic process
GO:0044281	small molecule metabolic process
GO:0055114	oxidation-reduction process

Cellular Component

GO:0005737	cytoplasm
GO:0005739	mitochondrion
GO:0005741	mitochondrial outer membrane
GO:0005743	mitochondrial inner membrane
GO:0005783	endoplasmic reticulum
GO:0005789	endoplasmic reticulum membrane
GO:0005811	lipid particle
GO:0005833	hemoglobin complex
GO:0016020	membrane
GO:0070062	extracellular vesicular exosome

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000018042

View Gene Order

ENSBTAG00000016516

Not yet available

Pathways

NETPATH

REACTOME

REACT_11202

Vitamin C (ascorbate) metabolism pathway

REACT_169312

Defective HLCS causes multiple carboxylase deficiency pathway

REACT_169313

Defective MUT causes methylmalonic aciduria mut type pathway

REACT_169316

Defective MMAA causes methylmalonic aciduria type cblA pathway

REACT_169120

Defective TCN2 causes hereditary megaloblastic anemia pathway

REACT_11238

Metabolism of water-soluble vitamins and cofactors pathway

REACT_169280

Defective AMN causes hereditary megaloblastic anemia 1 pathway

REACT_169149

Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway

REACT_169363

Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway

REACT_169178

Defective CD320 causes methylmalonic aciduria pathway

REACT_169429

Defects in cobalamin (B12) metabolism pathway

REACT_169169

Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway

REACT_169238

Defects in biotin (Btn) metabolism pathway

REACT_169403

Defective BTD causes biotidinase deficiency pathway

REACT_169415

Defective GIF causes intrinsic factor deficiency pathway

REACT_169385

Defects in vitamin and cofactor metabolism pathway

REACT_169132

Defective CUBN causes hereditary megaloblastic anemia 1 pathway

REACT_169256

Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway

REACT_169439

Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway

REACT_111217

Metabolism pathway

REACT_169318

Defective MMAB causes methylmalonic aciduria type cblB pathway

REACT_116125

Disease pathway

REACT_11193

Metabolism of vitamins and cofactors pathway

KEGG

hsa00520

Amino sugar and nucleotide sugar metabolism pathway

INOH

PID NCI

Cross-References

SwissProt

P00387

TrEMBL

A0A024R4X0 B1AHF3

UniProt Splice Variant

Entrez Gene

1727

UniGene

Hs.561064

RefSeq

NM_000398 NM_001129819 NM_001171660 NM_001171661 NM_007326

HUGO

HGNC:2873

OMIM

613213

CCDS

CCDS14040 CCDS33658 CCDS54535

HPRD

IMGT

EMBL

AF061830 AF061831 AF361370 AJ010116 AJ010117 AJ010118 AJ310899 AJ310900 AK302204 AY341030 BC004821 BT009821 CH471138 CR456435 M16461 M16462 M28705 M28706 M28707 M28708 M28709 M28710 M28711 M28713 Y09501 Z93241

GenPept

AAA52306 AAA52307 AAA59900 AAF06818 AAF06819 AAH04821 AAL87744 AAP88823 AAP88936 BAH13649 CAA09006 CAA09007 CAA09008 CAA70696 CAB42843 CAC84523 CAC84524 CAG30321 CAQ08414 EAW73268 EAW73272 EAW73273

RNA Seq Atlas

1727