Homo sapiens Gene: CYB5A | |||||||||||||||||||||||
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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)
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Protein Structure |
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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] |
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Gene Information | |||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||
Genomic Location | Chromosome 18:74250847-74292016 | ||||||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||||||
Band | q22.3 | ||||||||||||||||||||||
Transcripts |
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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.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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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
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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 | ||||||||||||||||||||||