BCO1 (beta-carotene oxygenase 1)

2014-07-01  

Identity

HGNC
LOCATION
16q23.2
LOCUSID
ALIAS
BCDO,BCDO1,BCMO,BCMO1,BCO
FUSION GENES

Other Information

Locus ID:

NCBI: 53630
MIM: 605748
HGNC: 13815
Ensembl: ENSG00000135697

Variants:

dbSNP: 53630
ClinVar: 53630
TCGA: ENSG00000135697
COSMIC: BCO1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000135697ENST00000258168Q9HAY6
ENSG00000135697ENST00000563804H3BV18
ENSG00000135697ENST00000564552H3BPA2

Expression (GTEx)

0
1
2
3

Pathways

PathwaySourceExternal ID
Retinol metabolismKEGGko00830
Retinol metabolismKEGGhsa00830
Metabolic pathwaysKEGGhsa01100
Signal TransductionREACTOMER-HSA-162582
Visual phototransductionREACTOMER-HSA-2187338
Retinoid metabolism and transportREACTOMER-HSA-975634
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of fat-soluble vitaminsREACTOMER-HSA-6806667

References

Pubmed IDYearTitleCitations
191852842009Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study.84
191852842009Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study.84
191036472009Two common single nucleotide polymorphisms in the gene encoding beta-carotene 15,15'-monoxygenase alter beta-carotene metabolism in female volunteers.61
191036472009Two common single nucleotide polymorphisms in the gene encoding beta-carotene 15,15'-monoxygenase alter beta-carotene metabolism in female volunteers.61
241062812013Two carotenoid oxygenases contribute to mammalian provitamin A metabolism.44
241871352013Substrate specificity of purified recombinant human β-carotene 15,15'-oxygenase (BCO1).39
221138632012Single nucleotide polymorphisms upstream from the β-carotene 15,15'-monoxygenase gene influence provitamin A conversion efficiency in female volunteers.38
179514682007Loss-of-function mutation in carotenoid 15,15'-monooxygenase identified in a patient with hypercarotenemia and hypovitaminosis A.35
210912282011Genetic variants in BCMO1 and CD36 are associated with plasma lutein concentrations and macular pigment optical density in humans.31
205996662010Molecular and dietary regulation of beta,beta-carotene 15,15'-monooxygenase 1 (BCMO1).25

Citation

Dessen P

BCO1 (beta-carotene oxygenase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-07-01

Online version: http://atlasgeneticsoncology.org/gene/54084/bco1