InnateDB Protein
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IDBP-43619.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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BCMO1
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Protein Name
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beta-carotene 15,15'-monooxygenase 1
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000258168
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InnateDB Gene
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IDBG-43617 (BCMO1)
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Protein Structure
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Function |
Symmetrically cleaves beta-carotene into two molecules of retinal. The reaction proceeds in three stages, epoxidation of the 15,15'-double bond, hydration of the double bond leading to ring opening, and oxidative cleavage of the diol formed.
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Subcellular Localization |
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Disease Associations |
Hypercarotenemia and vitamin A deficiency, autosomal dominant (ADHVAD) [MIM:115300]: A disorder characterized by increased serum beta-carotene, decreased conversion of beta- carotene to vitamin A and decreased serum vitamin A. {ECO:0000269PubMed:17951468}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Highly expressed in retinal pigment epithelium. Also expressed in kidney, testis, liver, brain, small intestine and colon. {ECO:0000269PubMed:11401432}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR004294
Carotenoid oxygenase
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PFAM |
PF03055
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9HAY6
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PhosphoSite |
PhosphoSite-Q9HAY6
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
53630
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UniGene |
Hs.212172
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RefSeq |
NP_059125
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HUGO |
HGNC:13815
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OMIM |
605748
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CCDS |
CCDS10934
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HPRD |
12042
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IMGT |
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EMBL |
AF294900
AK001592
BC126210
BC126212
CH471114
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GenPept |
AAG15380
AAI26211
AAI26213
BAA91776
EAW95537
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