BCO1 (beta-carotene oxygenase 1)

Gene

• Entrez ID: 53630
• Gene name: Beta-carotene oxygenase 1
• Gene symbol: BCO1
• Synonyms (NCBI Gene): BCDO, BCDO1, BCMO, BCMO1, BCO
• 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

SNPs

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)

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

Other IDs

• MIM: 605748
• HGNC: 13815
• e!Ensembl: ENSG00000135697

Protein

• 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:

  MDIIFGRNRKEQLEPVRAKVTGKIPAWLQGTLLRNGPGMHTVGESRYNHWFDGLALLHSF
  TIRDGEVYYRSKYLRSDTYNTNIEANRIVVSEFGTMAYPDPCKNIFSKAFSYLSHTIPDF
  TDNCLINIMKCGEDFYATSETNYIRKINPQTLETLEKVDYRKYVAVNLATSHPHYDEAGN
  VLNMGTSIVEKGKTKYVIFKIPATVPEGKKQGKSPWKHTEVFCSIPSRSLLSPSYYHSFG
  VTENYVIFLEQPFRLDILKMATAYIRRMSWASCLAFHREEKTYIHIIDQRTRQPVQTKFY
  TDAMVVFHHVNAYEEDGCIVFDVIAYEDNSLYQLFYLANLNQDFKENSRLTSVPTLRRFA
  VPLHVDKNAEVGTNLIKVASTTATALKEEDGQVYCQPEFLYEGLELPRVNYAHNGKQYRY
  VFATGVQWSPIPTKIIKYDILTKSSLKWREDDCWPAEPLFVPAPGAKDEDDGVILSAIVS
  TDPQKLPFLLILDAKSFTELARASVDVDMHMDLHGLFITDMDWDTKKQAASEEQRDRASD
  CHGAPLT

• Sequence length: 547

Pathways

KEGG:

Retinol metabolism
Metabolic pathways
Biosynthesis of cofactors

Reactome:

Retinoid metabolism and transport

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BCO1-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary hypercarotenemia and vitamin A deficiency	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Age related macular degeneration	Age-related macular degeneration	BEFREE	24586510		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23515144		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29673335		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	23803888	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23803888	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	30896431		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	30896431, 31480784	Associate	★☆☆☆☆ Found in Text Mining only
Disorder of macula of retina	Disorder Of Macula Of Retina	BEFREE	23404124		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	30896431		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	30896431	Associate	★☆☆☆☆ Found in Text Mining only
HEMOCHROMATOSIS, TYPE 1	Hemochromatosis	BEFREE	23468552		★☆☆☆☆ Found in Text Mining only
Hereditary hypercarotenemia and vitamin A deficiency	Hereditary Hypercarotenemia And Vitamin A Deficiency	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant	Hypercarotenemia And Vitamin A Deficiency	ORPHANET_DG	17951468		★☆☆☆☆ Found in Text Mining only
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant	Hypercarotenemia And Vitamin A Deficiency	UNIPROT_DG	17951468		★☆☆☆☆ Found in Text Mining only
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant	Hypercarotenemia And Vitamin A Deficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	36233117	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30446518		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	29673335	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	24346170, 24586510	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23515144		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29673335		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	23515144, 30801647		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23803888, 28448568, 31048207		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23803888		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	31048207		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	29266812, 30006135, 31212314		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	29428584		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	23515144, 30801647		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	30801647	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin A Deficiency	Vitamin A Deficiency	BEFREE	24106281		★☆☆☆☆ Found in Text Mining only