BCO1 (beta-carotene oxygenase 1)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
53630
Gene name Gene Name - the full gene name approved by the HGNC.
Beta-carotene oxygenase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BCO1
Synonyms (NCBI Gene) Gene synonyms aliases
BCDO, BCDO1, BCMO, BCMO1, BCO
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q23.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
SNP ID Visualize variation Clinical significance Consequence
rs119478057 C>A,T Pathogenic Upstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs141781255 G>A Conflicting-interpretations-of-pathogenicity Coding sequence variant, 3 prime UTR variant, genic downstream transcript variant, missense variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(13)
GO ID Ontology Definition Evidence Reference
GO:0001523 Process Retinoid metabolic process IDA 11401432
GO:0001523 Process Retinoid metabolic process TAS
GO:0003834 Function Beta-carotene 15,15'-monooxygenase activity IBA 21873635
GO:0003834 Function Beta-carotene 15,15'-monooxygenase activity IDA 11401432
GO:0005829 Component Cytosol TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
605748 13815 ENSG00000135697
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9HAY6
Protein name Beta,beta-carotene 15,15'-dioxygenase (EC 1.13.11.63) (Beta-carotene dioxygenase 1) (Beta-carotene oxygenase 1)
Protein function Symmetrically cleaves beta-carotene into two molecules of retinal using a dioxygenase mechanism.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03055 RPE65 5 → 519 Retinal pigment epithelial membrane protein Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in retinal pigment epithelium. Also expressed in kidney, testis, liver, brain, small intestine and colon. {ECO:0000269|PubMed:11401432}.
Sequence
Sequence length 547
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Retinol metabolism
Metabolic pathways
Biosynthesis of cofactors 		  Retinoid metabolism and transport
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 27903959
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Arthritis Arthritis GWAS
Show/Hide Text Mining Associations (9)
Associations from Text Mining
Disease Name Relationship Type References
Colonic Neoplasms Associate 23803888
Colorectal Neoplasms Associate 23803888
Coronary Artery Disease Associate 30896431, 31480784
Dyslipidemias Associate 30896431
Hypertriglyceridemia Associate 36233117
Lung Neoplasms Associate 29673335
Macular Degeneration Associate 24346170, 24586510
Pneumonia Lipid Associate 36233117
Prostatic Neoplasms Associate 30801647