Human Gene BCO1 (ENST00000258168.7) from GENCODE V44
Description: Homo sapiens beta-carotene oxygenase 1 (BCO1), mRNA. (from RefSeq NM_017429) RefSeq Summary (NM_017429): 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]. Gencode Transcript: ENST00000258168.7 Gencode Gene: ENSG00000135697.10 Transcript (Including UTRs) Position: hg38 chr16:81,238,689-81,291,142 Size: 52,454 Total Exon Count: 11 Strand: + Coding Region Position: hg38 chr16:81,238,909-81,290,577 Size: 51,669 Coding Exon Count: 11
ID:BCDO1_HUMAN DESCRIPTION: RecName: Full=Beta,beta-carotene 15,15'-monooxygenase; EC=1.14.99.36; AltName: Full=Beta-carotene dioxygenase 1; 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. CATALYTIC ACTIVITY: Beta-carotene + O(2) = 2 all-trans-retinal. COFACTOR: Binds 1 Fe(2+) ion per subunit (By similarity). PATHWAY: Cofactor metabolism; retinol metabolism. TISSUE SPECIFICITY: Highly expressed in retinal pigment epithelium. Also expressed in kidney, testis, liver, brain, small intestine and colon. DISEASE: Defects in BCMO1 are the cause of autosomal dominant hypercarotenemia and vitamin A deficiency (ADHVAD) [MIM:115300]. Vitamin A is essential for normal embryonic development as well as normal physiological functions in children and adults. Hypercarotenemia is characterized by an excess carotene in the serum, but unlike excess vitamin A, carotene is non-toxic. So far, only a few cases of excess vitamin A have been reported. Individuals were thought to be vitamin A deficient due to an impairment in the conversion of carotenoids to retinal in the intestine. SIMILARITY: Belongs to the carotenoid oxygenase family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF03055 - Retinal pigment epithelial membrane protein
ModBase Predicted Comparative 3D Structure on Q9HAY6
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0003834 beta-carotene 15,15'-monooxygenase activity GO:0016491 oxidoreductase activity GO:0016702 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GO:0046872 metal ion binding GO:0051213 dioxygenase activity
Biological Process: GO:0001523 retinoid metabolic process GO:0035238 vitamin A biosynthetic process GO:0042572 retinol metabolic process GO:0042574 retinal metabolic process GO:0055114 oxidation-reduction process GO:1901810 beta-carotene metabolic process
US Server
