Homo sapiens Gene: CYB5A
Summary
InnateDB Gene IDBG-4942.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CYB5A
Gene Name cytochrome b5 type A (microsomal)
Synonyms CYB5; MCB5
Species Homo sapiens
Ensembl Gene ENSG00000166347
Encoded Proteins
cytochrome b5 type A (microsomal)
cytochrome b5 type A (microsomal)
cytochrome b5 type A (microsomal)
cytochrome b5 type A (microsomal)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene is a membrane-bound cytochrome that reduces ferric hemoglobin (methemoglobin) to ferrous hemoglobin, which is required for stearyl-CoA-desaturase activity. Defects in this gene are a cause of type IV hereditary methemoglobinemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 18:74250847-74292016
Strand Reverse strand
Band q22.3
Transcripts
ENST00000340533 ENSP00000341625
ENST00000299438 ENSP00000299438
ENST00000397914 ENSP00000381011
ENST00000494131 ENSP00000436461
ENST00000583418
ENST00000580678
ENST00000579064
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 16 [view]
Protein-Protein 12 [view]
Protein-DNA 4 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004033 aldo-keto reductase (NADP) activity
GO:0004129 cytochrome-c oxidase activity
GO:0019899 enzyme binding
GO:0020037 heme binding
GO:0046872 metal ion binding
Biological Process
GO:0006766 vitamin metabolic process
GO:0006767 water-soluble vitamin metabolic process
GO:0019852 L-ascorbic acid metabolic process
GO:0044281 small molecule metabolic process
GO:0046686 response to cadmium ion
GO:0055114 oxidation-reduction process
GO:1902600 hydrogen ion transmembrane transport
Cellular Component
GO:0005739 mitochondrion
GO:0005741 mitochondrial outer membrane
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0043231 intracellular membrane-bounded organelle
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Vitamin C (ascorbate) metabolism pathway
Defective HLCS causes multiple carboxylase deficiency pathway
Defective MUT causes methylmalonic aciduria mut type pathway
Defective MMAA causes methylmalonic aciduria type cblA pathway
Defective TCN2 causes hereditary megaloblastic anemia pathway
Metabolism of water-soluble vitamins and cofactors pathway
Defective AMN causes hereditary megaloblastic anemia 1 pathway
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Defective CD320 causes methylmalonic aciduria pathway
Defects in cobalamin (B12) metabolism pathway
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
Defects in biotin (Btn) metabolism pathway
Defective BTD causes biotidinase deficiency pathway
Defective GIF causes intrinsic factor deficiency pathway
Defects in vitamin and cofactor metabolism pathway
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
Metabolism pathway
Defective MMAB causes methylmalonic aciduria type cblB pathway
Disease pathway
Metabolism of vitamins and cofactors pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt P00167
TrEMBL J3KNC7 Q9UML1
UniProt Splice Variant
Entrez Gene 1528
UniGene Hs.465413
RefSeq NM_148923 NM_001190807 NM_001914
HUGO HGNC:2570
OMIM 613218
CCDS CCDS12004 CCDS12005 CCDS54188
HPRD 08941
IMGT
EMBL AC090398 BC015182 CA771478 CH471117 CR456990 L39792 L39941 L39942 L39943 L39944 L39945 M22865 M22976 M60174
GenPept AAA35729 AAA52133 AAA52165 AAA63169 AAH15182 CAG33271 EAW66544
RNA Seq Atlas 1528