Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	53630
Gene name	Beta-carotene oxygenase 1
Gene symbol	BCO1
Synonyms (NCBI Gene)	BCDOBCDO1BCMOBCMO1BCO
Chromosome	16
Chromosome location	16q23.2
Summary	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

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

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001523	Process	Retinoid metabolic process	IDA	11401432
GO:0001523	Process	Retinoid metabolic process	IEA
GO:0003834	Function	Beta-carotene 15,15'-dioxygenase activity	IBA
GO:0003834	Function	Beta-carotene 15,15'-dioxygenase activity	IDA	11401432, 24668807
GO:0003834	Function	Beta-carotene 15,15'-dioxygenase activity	IEA
GO:0003834	Function	Beta-carotene 15,15'-dioxygenase activity	IMP	17951468
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005829	Component	Cytosol	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0010436	Function	Carotenoid dioxygenase activity	IBA
GO:0016121	Process	Carotene catabolic process	IBA
GO:0016121	Process	Carotene catabolic process	IDA	11401432, 24668807
GO:0016121	Process	Carotene catabolic process	IEA
GO:0016121	Process	Carotene catabolic process	IMP	17951468
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016702	Function	Oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	IEA
GO:0035238	Process	Vitamin A biosynthetic process	NAS	15983114
GO:0042572	Process	Retinol metabolic process	IEA
GO:0042574	Process	Retinal metabolic process	IBA
GO:0042574	Process	Retinal metabolic process	IDA	11401432, 24668807
GO:0042574	Process	Retinal metabolic process	IEA
GO:0042574	Process	Retinal metabolic process	IMP	17951468
GO:0042574	Process	Retinal metabolic process	NAS	15983114
GO:0046872	Function	Metal ion binding	IEA
GO:0051213	Function	Dioxygenase activity	IEA
GO:1901810	Process	Beta-carotene metabolic process	IEA

MIM	HGNC	e!Ensembl
605748	13815	ENSG00000135697

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

MDIIFGRNRKEQLEPVRAKVTGKIPAWLQGTLLRNGPGMHTVGESRYNHWFDGLALLHSF
TIRDGEVYYRSKYLRSDTYNTNIEANRIVVSEFGTMAYPDPCKNIFSKAFSYLSHTIPDF
TDNCLINIMKCGEDFYATSETNYIRKINPQTLETLEKVDYRKYVAVNLATSHPHYDEAGN
VLNMGTSIVEKGKTKYVIFKIPATVPEGKKQGKSPWKHTEVFCSIPSRSLLSPSYYHSFG
VTENYVIFLEQPFRLDILKMATAYIRRMSWASCLAFHREEKTYIHIIDQRTRQPVQTKFY
TDAMVVFHHVNAYEEDGCIVFDVIAYEDNSLYQLFYLANLNQDFKENSRLTSVPTLRRFA
VPLHVDKNAEVGTNLIKVASTTATALKEEDGQVYCQPEFLYEGLELPRVNYAHNGKQYRY
VFATGVQWSPIPTKIIKYDILTKSSLKWREDDCWPAEPLFVPAPGAKDEDDGVILSAIVS
TDPQKLPFLLILDAKSFTELARASVDVDMHMDLHGLFITDMDWDTKKQAASEEQRDRASD
CHGAPLT

Sequence length

547

Interactions

View interactions

	KEGG		Reactome
	Retinol metabolism Metabolic pathways Biosynthesis of cofactors		Retinoid metabolism and transport

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs35683292, rs143238312	RCV005917936 RCV005907995
BCO1-related disorder	Benign; Uncertain significance; Likely benign	rs35683292, rs119478057, rs147813781, rs117372108, rs554010904, rs369214485, rs145438816, rs78699050, rs143238312	RCV003921269 RCV003924801 RCV003907052 RCV003931891 RCV003981757 RCV003899358 RCV003942131 RCV003952279 RCV003915837
Cervical cancer	Benign	rs11647597	RCV005915408
Cholangiocarcinoma	Benign	rs12449108	RCV005923226
Clear cell carcinoma of kidney	Benign	rs143238312	RCV005907998
Colon adenocarcinoma	Benign	rs35683292	RCV005917935
Gastric cancer	Benign	rs143238312	RCV005907999
Hereditary hypercarotenemia and vitamin A deficiency	Uncertain significance	rs119478057, rs1567452425	RCV000005038 RCV003989218
Lung cancer	Benign	rs12449108, rs143238312	RCV005923227 RCV005908001
Malignant lymphoma, large B-cell, diffuse	Benign	rs7501331, rs12449108	RCV005918515 RCV005923225
Malignant tumor of esophagus	Benign	rs143238312	RCV005907996
Nonpapillary renal cell carcinoma	Benign	rs35683292, rs143238312	RCV005917937 RCV005907997
Ovarian serous cystadenocarcinoma	Benign	rs143238312	RCV005908000
Sarcoma	Benign	rs11647597, rs35683292	RCV005915409 RCV005917938
Uterine carcinosarcoma	Benign	rs11647597, rs7501331	RCV005915410 RCV005918516
Uterine corpus endometrial carcinoma	Benign	rs11647597, rs35683292, rs143238312	RCV005915411 RCV005917939 RCV005908002

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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

BCO1 (beta-carotene oxygenase 1)