BCO1 (beta-carotene oxygenase 1)

2014-07-01  

Identity

HGNC
BCO1
LOCATION
16q23.2
LOCUSID
53630
ALIAS
BCDO,BCDO1,BCMO,BCMO1,BCO
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
344810022022ALDH2, ADCY3 and BCMO1 polymorphisms and lifestyle-induced traits are jointly associated with CAD risk in Chinese Han people.2
354610602022Common variant rs6564851 near the beta-carotene oxygenase 1 gene is associated with plasma triglycerides levels in middle-aged Mexican men adults.3
359944632022Association of TGFB1 rs1800469 and BCMO1 rs6564851 with coronary heart disease and IL1B rs16944 with all-cause mortality in men from the Northern Ireland PRIME study.2
362331172022Association of MARC1, ADCY5, and BCO1 Variants with the Lipid Profile, Suggests an Additive Effect for Hypertriglyceridemia in Mexican Adult Men.2
344810022022ALDH2, ADCY3 and BCMO1 polymorphisms and lifestyle-induced traits are jointly associated with CAD risk in Chinese Han people.2
354610602022Common variant rs6564851 near the beta-carotene oxygenase 1 gene is associated with plasma triglycerides levels in middle-aged Mexican men adults.3
359944632022Association of TGFB1 rs1800469 and BCMO1 rs6564851 with coronary heart disease and IL1B rs16944 with all-cause mortality in men from the Northern Ireland PRIME study.2
362331172022Association of MARC1, ADCY5, and BCO1 Variants with the Lipid Profile, Suggests an Additive Effect for Hypertriglyceridemia in Mexican Adult Men.2
320352292020Enzymology of vertebrate carotenoid oxygenases.17
320617502020Evolutionary aspects and enzymology of metazoan carotenoid cleavage oxygenases.12
324337332020β-Carotene Oxygenase 1 Activity Modulates Circulating Cholesterol Concentrations in Mice and Humans.20
325601662020SNP rs6564851 in the BCO1 Gene Is Associated with Varying Provitamin a Plasma Concentrations but Not with Retinol Concentrations among Adolescents from Rural Ghana.2
320352292020Enzymology of vertebrate carotenoid oxygenases.17
320617502020Evolutionary aspects and enzymology of metazoan carotenoid cleavage oxygenases.12
324337332020β-Carotene Oxygenase 1 Activity Modulates Circulating Cholesterol Concentrations in Mice and Humans.20

Citation

Dessen P

BCO1 (beta-carotene oxygenase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-07-01

Online version: http://atlasgeneticsoncology.org/gene/54084/gene-fusions-explorer/deep-insight-explorer/