BCO1

Protein identityUniProt · HPA

UniProt accession

Q9HAY6

Gene

BCO1

Ensembl

ENSG00000135697

Chromosome

16

Canonical length

547 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Actin filaments,Centriolar satellite

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

547 residues, UniProt reviewed canonical sequence.

>Q9HAY6|BCO1
     1  MDIIFGRNRK EQLEPVRAKV TGKIPAWLQG TLLRNGPGMH TVGESRYNHW FDGLALLHSF
    61  TIRDGEVYYR SKYLRSDTYN TNIEANRIVV SEFGTMAYPD PCKNIFSKAF SYLSHTIPDF
   121  TDNCLINIMK CGEDFYATSE TNYIRKINPQ TLETLEKVDY RKYVAVNLAT SHPHYDEAGN
   181  VLNMGTSIVE KGKTKYVIFK IPATVPEGKK QGKSPWKHTE VFCSIPSRSL LSPSYYHSFG
   241  VTENYVIFLE QPFRLDILKM ATAYIRRMSW ASCLAFHREE KTYIHIIDQR TRQPVQTKFY
   301  TDAMVVFHHV NAYEEDGCIV FDVIAYEDNS LYQLFYLANL NQDFKENSRL TSVPTLRRFA
   361  VPLHVDKNAE VGTNLIKVAS TTATALKEED GQVYCQPEFL YEGLELPRVN YAHNGKQYRY
   421  VFATGVQWSP IPTKIIKYDI LTKSSLKWRE DDCWPAEPLF VPAPGAKDED DGVILSAIVS
   481  TDPQKLPFLL ILDAKSFTEL ARASVDVDMH MDLHGLFITD MDWDTKKQAA SEEQRDRASD
   541  CHGAPLT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BCO1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.23

Highest tissue expression

14 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BCO1.

Disease | AllUniProt

Conditions BCO1 is implicated in, by any mechanism.

• Hypercarotenemia and vitamin A deficiency, autosomal dominant (HCVAD) MIM:115300

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.18

gnomAD pLI

0

DepMap mean gene effect

-0.01

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• carotene catabolic process
• retinal metabolic process
• retinoid metabolic process
• retinol metabolic process
• beta-carotene metabolic process
• vitamin A biosynthetic process

Molecular functions

• beta-carotene 15,15'-dioxygenase activity
• carotenoid dioxygenase activity
• metal ion binding

Cellular components

• cytosol

Protein domainsUniProt · Pfam · InterPro

• Carotenoid oxygenase
• Retinal pigment epithelial membrane protein

KeywordsUniProt

• Cytoplasm
• Dioxygenase
• Iron
• Lipid metabolism
• Metal-binding
• Oxidoreductase