• Gene id: 53630

Gene Summary

• Gene Symbol: BCO1   Gene   UCSC   Ensembl
• Aliases: BCDO, BCDO1, BCMO, BCMO1, BCO
• Gene name: beta-carotene oxygenase 1
• Alternate names: beta,beta-carotene 15,15'-dioxygenase, beta,beta-carotene 15,15'-monooxygenase, beta-carotene 15, 15'-dioxygenase 1, beta-carotene 15,15'-monooxygenase 1, beta-carotene dioxygenase 1,
• Gene location: 16q23.2 (81238447: 81291141)     Exons: 11     NC_000016.10
• Gene summary(Entrez): Vitamin A metabolism is important for vital processes such as vision, embryonic development, cell differentiation, and membrane and skin protection. The protein encoded by this gene is a key enzyme in beta-carotene metabolism to vitamin A. It catalyzes th

Protein Summary

• Protein general information: Q9HAY6  
  • Name: Beta,beta carotene 15,15' dioxygenase (EC 1.13.11.63) (Beta carotene dioxygenase 1) (Beta carotene oxygenase 1)
  • Length: 547  
  • Mass: 62637
  • Tissue specificity: Highly expressed in retinal pigment epithelium. Also expressed in kidney, testis, liver, brain, small intestine and colon. {ECO
• Sequence:

  MDIIFGRNRKEQLEPVRAKVTGKIPAWLQGTLLRNGPGMHTVGESRYNHWFDGLALLHSFTIRDGEVYYRSKYLR
  SDTYNTNIEANRIVVSEFGTMAYPDPCKNIFSKAFSYLSHTIPDFTDNCLINIMKCGEDFYATSETNYIRKINPQ
  TLETLEKVDYRKYVAVNLATSHPHYDEAGNVLNMGTSIVEKGKTKYVIFKIPATVPEGKKQGKSPWKHTEVFCSI
  PSRSLLSPSYYHSFGVTENYVIFLEQPFRLDILKMATAYIRRMSWASCLAFHREEKTYIHIIDQRTRQPVQTKFY
  TDAMVVFHHVNAYEEDGCIVFDVIAYEDNSLYQLFYLANLNQDFKENSRLTSVPTLRRFAVPLHVDKNAEVGTNL
  IKVASTTATALKEEDGQVYCQPEFLYEGLELPRVNYAHNGKQYRYVFATGVQWSPIPTKIIKYDILTKSSLKWRE
  DDCWPAEPLFVPAPGAKDEDDGVILSAIVSTDPQKLPFLLILDAKSFTELARASVDVDMHMDLHGLFITDMDWDT
  KKQAASEEQRDRASDCHGAPLT

• Structural information:
  • Interpro: IPR004294  
  • STRING: ENSP00000258168
• Other Databases: GeneCards:  BCO1  Malacards:  BCO1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003834	beta-carotene 15,15'-monooxygenase activity	IBA	molecular function
GO:0010436	carotenoid dioxygenase activity	IBA	molecular function
GO:0016121	carotene catabolic process	IBA	biological process
GO:0042574	retinal metabolic process	IBA	biological process
GO:0004744	retinal isomerase activity	IBA	molecular function
GO:0016702	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0051213	dioxygenase activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0001523	retinoid metabolic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0042574	retinal metabolic process	IEA	biological process
GO:0003834	beta-carotene 15,15'-monooxygenase activity	IEA	molecular function
GO:0001523	retinoid metabolic process	IEA	biological process
GO:1901810	beta-carotene metabolic process	IEA	biological process
GO:0035238	vitamin A biosynthetic process	NAS	biological process
GO:0042574	retinal metabolic process	NAS	biological process
GO:0042572	retinol metabolic process	IEA	biological process
GO:0003834	beta-carotene 15,15'-monooxygenase activity	IDA	molecular function
GO:0001523	retinoid metabolic process	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00830	Retinol metabolism

Diseases

Associated diseases	References
Hypercarotenemia and vitamin A deficiency	KEGG:H01266
Hypercarotenemia and vitamin A deficiency	KEGG:H01266
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R