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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 the oxidative cleavage of beta,beta-carotene into two retinal molecules. [provided by RefSeq, Jul 2008]
BCO1 (Beta-Carotene Oxygenase 1) is a Protein Coding gene. Diseases associated with BCO1 include Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant and Hereditary Hypercarotenemia And Vitamin A Deficiency. Among its related pathways are Signaling by GPCR and Drug metabolism - cytochrome P450. Gene Ontology (GO) annotations related to this gene include monooxygenase activity and beta-carotene 15,15'-monooxygenase activity. An important paralog of this gene is BCO2.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH16J081237 | Promoter/Enhancer | 1.4 | EPDnew Ensembl ENCODE | 250.7 | -0.2 | -210 | 2.3 | ZIC2 RXRA JUND ZNF24 HNF4A SCRT1 ZNF362 TFAP4 MAX SP1 | BCO1 PKD1L2 ENSG00000245059 L13304-015 | |
GH16J081239 | Enhancer | 0.3 | ENCODE | 250.7 | +1.0 | 1003 | 0.2 | PRDM10 | BCO1 ENSG00000280182 HSALNG0112981 GAN ENSG00000245059 L13304-015 | |
GH16J081213 | Enhancer | 0.4 | FANTOM5 | 28.6 | -25.2 | -25221 | 0.3 | NRF1 GATA2 HLF | BCO1 PKD1L2 HSALNG0112979 HSALNG0112980 GCSH L13304-015 ENSG00000245059 | |
GH16J081220 | Enhancer | 0.8 | Ensembl | 0.4 | -18.0 | -18047 | 0.4 | IKZF1 HES1 ZNF395 ZEB2 TAL1 YY1 NFE2 STAT5A FOXM1 TCF12 | HSALNG0112980 PKD1L2 BCO1 ENSG00000245059 L13304-015 | |
GH16J081272 | Enhancer | 1 | Ensembl ENCODE | 0.3 | +38.6 | 38553 | 9.6 | ZNF217 ELF1 ZNF623 MBD2 NONO CTBP1 SIN3A JUND ZBTB40 SMARCE1 | GAN PKD1L2 RNU6-1191P ENSG00000280182 HSALNG0112981 HSALNG0112982 BCO1 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003834 | beta-carotene 15,15'-monooxygenase activity | IDA | 11401432 |
GO:0010436 | carotenoid dioxygenase activity | IBA | 21873635 |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO:0016702 | oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen | IEA | -- |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism of fat-soluble vitamins | ||
2 | Metabolism |
.40
|
|
3 | Drug metabolism - cytochrome P450 |
Retinol metabolism
.31
|
|
4 | Biosynthesis of cofactors | ||
5 | Metabolism of water-soluble vitamins and cofactors |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001523 | retinoid metabolic process | IEA,TAS | -- |
GO:0016121 | carotene catabolic process | IBA | 21873635 |
GO:0035238 | vitamin A biosynthetic process | NAS | 15983114 |
GO:0042572 | retinol metabolic process | IEA | -- |
GO:0042574 | retinal metabolic process | NAS | 15983114 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
15,15'-Dihydroxy-beta-carotene |
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9-cis-Retinal |
|
514-85-2 |
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beta-Carotene-15,15'-epoxide |
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Retinal |
|
116-31-4 |
|
Compound | Action | Cas Number |
---|---|---|
Vitamin A Acetate | Unsaturated nutritional hydrocarbons | 127-47-9 |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BCMO1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | BCMO1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BCMO1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Bcmo1 30 31 |
|
OneToOne | |
Bco1 17 |
|
||||
Rat (Rattus norvegicus) |
Mammalia | Bcmo1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | BCMO1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | BCMO1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | BCMO1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | bcmo1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | bcmo1l 30 |
|
||
bcmo1 31 |
|
OneToOne | |||
bcdo1 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.2837 30 |
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||
Worm (Caenorhabditis elegans) |
Secernentea | bcmo-1 30 |
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Thale Cress (Arabidopsis thaliana) |
eudicotyledons | CCD8 30 |
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||
Rice (Oryza sativa) |
Liliopsida | Os01g0746400 30 |
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||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU11424 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.9281 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs119478057 | Pathogenic: Hypercarotenemia and vitamin a deficiency, autosomal dominant. Hypercarotenemia and vitamin A deficiency, autosomal dominant (HCVAD) [MIM:115300] | 81,264,677(+) |
C/Tp.Thr170Met NM_017429.3(BCO1):c.509C>T (p.Thr170Met) |
MISSENSE | |
rs141781255 | Conflicting Interpretations: not provided | 81,290,555(+) |
G/A NM_017429.3(BCO1):c.1622G>A (p.Cys541Tyr) |
MISSENSE | |
rs143238312 | Benign: not provided | 81,290,348(+) |
G/C NM_017429.3(BCO1):c.1415G>C (p.Gly472Ala) |
MISSENSE | |
rs148049024 | Benign: not provided | 81,290,521(+) |
G/A NM_017429.3(BCO1):c.1588G>A (p.Ala530Thr) |
MISSENSE | |
rs149029789 | Likely Benign: not provided | 81,264,678(+) |
G/A NM_017429.3(BCO1):c.510G>A (p.Thr170=) |
SYNONYMOUS |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv3048n100 | CNV | gain | 25217958 |
esv2714778 | CNV | deletion | 23290073 |
esv2751615 | CNV | gain | 17911159 |
esv2761925 | CNV | loss | 21179565 |
esv3409188 | CNV | insertion | 20981092 |
esv3582386 | CNV | loss | 25503493 |
esv3639328 | CNV | loss | 21293372 |
esv3892912 | CNV | gain | 25118596 |
esv9222 | OTHER | inversion | 19470904 |
nsv103709 | CNV | deletion | 16902084 |
nsv1058690 | CNV | loss | 25217958 |
nsv1061931 | CNV | gain | 25217958 |
nsv1064529 | CNV | loss | 25217958 |
nsv1123073 | CNV | deletion | 24896259 |
nsv1127518 | CNV | deletion | 24896259 |
nsv457573 | CNV | gain | 19166990 |
nsv527288 | CNV | gain | 19592680 |
nsv573354 | CNV | gain | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hypercarotenemia and vitamin a deficiency, autosomal dominant |
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hereditary hypercarotenemia and vitamin a deficiency |
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hypervitaminosis a |
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ras-associated autoimmune leukoproliferative disorder |
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fundus albipunctatus |
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