BCO1
entrez
53630
canonical
uniprot
Q9HAY6
canonical
ensembl
ENSG00000135697
resolver
ensp
ENSP00000258168
resolver
ensp
ENSP00000561724
resolver
ensp
ENSP00000561725
resolver
ensp
ENSP00000776111
resolver
ensp
ENSP00000790382
resolver
enst
ENST00000258168
resolver
genesymbol
BCO1
resolver
genesymbol_syn
BCDO
resolver
genesymbol_syn
BCDO1
resolver
genesymbol_syn
BCMO1
resolver
hgnc
HGNC:13815
resolver
uniprot
A0AV48
resolver
uniprot
A0AV50
resolver
uniprot
Q9NVH5
resolver
uniprot_entry
BCDO1_HUMAN
resolver
uniprot_sec
A0AV48
resolver
uniprot_sec
A0AV50
resolver
uniprot_sec
Q9NVH5
resolver
amino_acid_sequence
MDIIFGRNRKEQLEPVRAKVTGKIPAWLQGTLLRNGPGMHTVGESRYNHWFDGLALLHSFTIRDGEVYYRSKYLRSDTYNTNIEANRIVVSEFGTMAYPDPCKNIFSKAFSYLSHTIPDFTDNCLINIMKCGEDFYATSETNYIRKINPQTLETLEKVDYRKYVAVNLATSHPHYDEAGNVLNMGTSIVEKGKTKYVIFKIPATVPEGKKQGKSPWKHTEVFCSIPSRSLLSPSYYHSFGVTENYVIFLEQPFRLDILKMATAYIRRMSWASCLAFHREEKTYIHIIDQRTRQPVQTKFYTDAMVVFHHVNAYEEDGCIVFDVIAYEDNSLYQLFYLANLNQDFKENSRLTSVPTLRRFAVPLHVDKNAEVGTNLIKVASTTATALKEEDGQVYCQPEFLYEGLELPRVNYAHNGKQYRYVFATGVQWSPIPTKIIKYDILTKSSLKWREDDCWPAEPLFVPAPGAKDEDDGVILSAIVSTDPQKLPFLLILDAKSFTELARASVDVDMHMDLHGLFITDMDWDTKKQAASEEQRDRASDCHGAPLT
uniprot
proteins
disease_involvement
DISEASE: Hypercarotenemia and vitamin A deficiency, autosomal dominant (HCVAD) [MIM:115300]: A disorder characterized by increased serum beta-carotene, decreased conversion of beta-carotene to vitamin A and decreased serum vitamin A. {ECO:0000269|PubMed:17951468}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.13.11.63
uniprot
proteins
function
FUNCTION: Symmetrically cleaves beta-carotene into two molecules of retinal using a dioxygenase mechanism. {ECO:0000269|PubMed:11401432, ECO:0000269|PubMed:17951468, ECO:0000269|PubMed:24668807}.
uniprot
proteins
mass_dalton
62637
uniprot
proteins
pathway_participation
PATHWAY: Cofactor metabolism; retinol metabolism. {ECO:0000269|PubMed:17951468}.
uniprot
proteins
protein_family
Carotenoid oxygenase family
uniprot
proteins
pubmed
11401432
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17951468
uniprot
proteins
pubmed
24668807
uniprot
proteins
sequence_length
547
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q9I993}.
uniprot
proteins