• Gene id: 51167

Gene Summary

• Gene Symbol: CYB5R4   Gene   UCSC   Ensembl
• Aliases: NCB5OR, cb5/cb5R, dJ676J13.1
• Gene name: cytochrome b5 reductase 4
• Alternate names: cytochrome b5 reductase 4, N-terminal cytochrome b5 and cytochrome b5 oxidoreductase domain-containing protein, NADPH cytochrome B5 oxidoreductase, cytochrome b-type NAD(P)H oxidoreductase, flavohemoprotein b5+b5R, flavohemoprotein b5/b5R,
• Gene location: 6q14.2 (83859688: 83967422)     Exons: 16     NC_000006.12
• Gene summary(Entrez): NCB5OR is a flavohemoprotein that contains functional domains found in both cytochrome b5 (CYB5A; MIM 613218) and CYB5 reductase (CYB5R3; MIM 613213) (Zhu et al., 1999 [PubMed 10611283]).[supplied by OMIM, Jan 2010]
• OMIM: 608343

Protein Summary

• Protein general information: Q7L1T6  
  • Name: Cytochrome b5 reductase 4 (EC 1.6.2.2) (Flavohemoprotein b5/b5R) (b5+b5R) (N terminal cytochrome b5 and cytochrome b5 oxidoreductase domain containing protein) (cb5/cb5R)
  • Length: 521  
  • Mass: 59474
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MLNVPSQSFPAPRSQQRVASGGRSKVPLKQGRSLMDWIRLTKSGKDLTGLKGRLIEVTEEELKKHNKKDDCWICI
  RGFVYNVSPYMEYHPGGEDELMRAAGSDGTELFDQVHRWVNYESMLKECLVGRMAIKPAVLKDYREEEKKVLNGM
  LPKSQVTDTLAKEGPSYPSYDWFQTDSLVTIAIYTKQKDINLDSIIVDHQNDSFRAETIIKDCLYLIHIGLSHEV
  QEDFSVRVVESVGKIEIVLQKKENTSWDFLGHPLKNHNSLIPRKDTGLYYRKCQLISKEDVTHDTRLFCLMLPPS
  THLQVPIGQHVYLKLPITGTEIVKPYTPVSGSLLSEFKEPVLPNNKYIYFLIKIYPTGLFTPELDRLQIGDFVSV
  SSPEGNFKISKFQELEDLFLLAAGTGFTPMVKILNYALTDIPSLRKVKLMFFNKTEDDIIWRSQLEKLAFKDKRL
  DVEFVLSAPISEWNGKQGHISPALLSEFLKRNLDKSKVLVCICGPVPFTEQGVRLLHDLNFSKNEIHSFTA

• Structural information:
  • Protein Domains: (54..13-)
    heme-binding (/note="Cytochrome-b5)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00279-)
    (165..25-)
    (/note="CS-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00547-)
    (273..38-)
    (/note="FAD-binding-FR-type)
    (/evidence="ECO:0000255-)
  • Interpro: IPR001834  IPR008333  IPR007052  IPR001199  IPR036400   IPR018506  IPR017927  IPR039261  IPR008978  IPR001433  IPR037908  IPR017938  
  • Prosite: PS51203 PS00191 PS50255 PS51384
  • CDD: cd06490
  • PDB: 3LF5 6MV1 6MV2
  • PDBsum: 3LF5 6MV1 6MV2
  • STRING: ENSP00000358695
• Other Databases: GeneCards:  CYB5R4  Malacards:  CYB5R4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0055114	oxidation-reduction process	IBA	biological process
GO:0020037	heme binding	IBA	molecular function
GO:0006801	superoxide metabolic process	IBA	biological process
GO:0006091	generation of precursor metabolites and energy	IBA	biological process
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0004128	cytochrome-b5 reductase activity, acting on NAD(P)H	IBA	molecular function
GO:0020037	heme binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0004128	cytochrome-b5 reductase activity, acting on NAD(P)H	IEA	molecular function
GO:0015701	bicarbonate transport	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0030073	insulin secretion	IEA	biological process
GO:0042593	glucose homeostasis	IEA	biological process
GO:0046677	response to antibiotic	IEA	biological process
GO:0004128	cytochrome-b5 reductase activity, acting on NAD(P)H	IEA	molecular function
GO:0048468	cell development	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016653	oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor	IDA	molecular function
GO:0004128	cytochrome-b5 reductase activity, acting on NAD(P)H	IDA	molecular function
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0006801	superoxide metabolic process	IDA	biological process
GO:0006091	generation of precursor metabolites and energy	IDA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0016174	NAD(P)H oxidase (H(2)O(2)-forming activity	IDA	NOT|molecular function
GO:0016174	NAD(P)H oxidase (H(2)O(2)-forming activity	IDA	molecular function
GO:0048468	cell development	ISS	biological process
GO:0042593	glucose homeostasis	ISS	biological process
GO:0003032	detection of oxygen	NAS	biological process
GO:0046677	response to antibiotic	ISS	biological process
GO:0030073	insulin secretion	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa00520	Amino sugar and nucleotide sugar metabolism

Diseases

Associated diseases	References
type 2 diabetes mellitus	PMID:15504981
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R