• Gene id: 1528

Gene Summary

• Gene Symbol: CYB5A   Gene   UCSC   Ensembl
• Aliases: CYB5, MCB5
• Gene name: cytochrome b5 type A
• Alternate names: cytochrome b5, cytochrome b5 type A (microsomal), type 1 cyt-b5,
• Gene location: 18q22.3 (74292015: 74253291)     Exons: 6     NC_000018.10
• Gene summary(Entrez): 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 methemoglob
• OMIM: 613218

Protein Summary

• Protein general information: P00167  
  • Name: Cytochrome b5 (Microsomal cytochrome b5 type A) (MCB5)
  • Length: 134  
  • Mass: 15,330
• Sequence:

  MAEQSDEAVKYYTLEEIQKHNHSKSTWLILHHKVYDLTKFLEEHPGGEEVLREQAGGDATENFEDVGHSTDAREM
  SKTFIIGELHPDDRPKLNKPPETLITTIDSSSSWWTNWVIPAISAVAVALMYRLYMAED

• Structural information:
  • Protein Domains: Cytochrome (9-85)
  • Interpro: IPR001199  IPR036400  IPR018506  
  • Prosite: PS00191 PS50255
  • PDB: 2I96
  • PDBsum: 2I96
  • STRING: ENSP00000341625
• Other Databases: GeneCards:  CYB5A  Malacards:  CYB5A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004033	aldo-keto reductase (NADP) activity	TAS	molecular function
GO:0004129	cytochrome-c oxidase activity	TAS	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0019852	L-ascorbic acid metabolic process	TAS	biological process
GO:0019899	enzyme binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0020037	heme binding	IEA	molecular function
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0046686	response to cadmium ion	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:1902600	hydrogen ion transmembrane transport	IEA	biological process
GO:0004033	aldo-keto reductase (NADP) activity	TAS	molecular function
GO:0004129	cytochrome-c oxidase activity	TAS	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0019852	L-ascorbic acid metabolic process	TAS	biological process
GO:0019899	enzyme binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0020037	heme binding	IEA	molecular function
GO:0031090	organelle membrane	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0046686	response to cadmium ion	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:1902600	hydrogen ion transmembrane transport	IEA	biological process
GO:0004033	aldo-keto reductase (NADP) activity	TAS	molecular function
GO:0004129	cytochrome-c oxidase activity	TAS	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0019852	L-ascorbic acid metabolic process	TAS	biological process
GO:0019899	enzyme binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component

Diseases

Associated diseases	References
Methemoglobinemia	KEGG: H00235
Male factor infertility	MIK: 23645088
Asthenozoospermia	MIK: 23645088
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Asthenospermia	MIK: 23645088
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
23645088	Asthenospermia	(m.9387 G>A) in COXIII	Tunisia n	166 (66 infertile men suffering from asthenospermia (n=34) in comparison to normospermic infertile men (n=32) and fertile men (n=100))	Male infertility	cytochrome oxidase I cytochrome oxidase II cytochrome oxidase III adenosine triphosphate synthase6 ATP synthase8 and cytochrome b
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R