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BCO1 beta-carotene oxygenase 1 [ Homo sapiens (human) ]

Gene ID: 53630, updated on 4-Jun-2020

Summary

Official Symbol
BCO1provided by HGNC
Official Full Name
beta-carotene oxygenase 1provided by HGNC
Primary source
HGNC:HGNC:13815
See related
Ensembl:ENSG00000135697 MIM:605748
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BCO; BCDO; BCMO; BCDO1; BCMO1
Summary
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]
Expression
Biased expression in small intestine (RPKM 7.4), duodenum (RPKM 3.9) and 4 other tissues See more
Orthologs

Genomic context

See BCO1 in Genome Data Viewer
Location:
16q23.2
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (81238448..81291142)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (81272176..81324747)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1191, pseudogene Neighboring gene polycystin 1 like 2 (gene/pseudogene) Neighboring gene Sharpr-MPRA regulatory region 3111 Neighboring gene gigaxonin Neighboring gene microRNA 4720 Neighboring gene Sharpr-MPRA regulatory region 12949

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Hypercarotenemia and vitamin a deficiency, autosomal dominant
MedGen: C2676023 OMIM: 115300 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
NHGRI GWA Catalog
Hypercarotenemia and vitamin a deficiency, autosomal dominant

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10730

Gene Ontology Provided by GOA

Function Evidence Code Pubs
beta-carotene 15,15'-monooxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
beta-carotene 15,15'-monooxygenase activity IDA
Inferred from Direct Assay
more info
PubMed 
carotenoid dioxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
beta-carotene metabolic process IEA
Inferred from Electronic Annotation
more info
 
carotene catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
retinal metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
retinal metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
retinoid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
retinoid metabolic process TAS
Traceable Author Statement
more info
 
retinol metabolic process IEA
Inferred from Electronic Annotation
more info
 
vitamin A biosynthetic process NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
beta,beta-carotene 15,15'-dioxygenase
Names
beta,beta-carotene 15,15'-monooxygenase
beta-carotene 15, 15'-dioxygenase 1
beta-carotene 15,15'-monooxygenase 1
beta-carotene dioxygenase 1
NP_059125.2
XP_011521411.1
XP_016878775.1
XP_016878776.1
XP_016878777.1
XP_016878778.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012171.1 RefSeqGene

    Range
    4999..57452
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_017429.3NP_059125.2  beta,beta-carotene 15,15'-dioxygenase

    See identical proteins and their annotated locations for NP_059125.2

    Status: REVIEWED

    Source sequence(s)
    AC131888, AF294900, BC022269
    Consensus CDS
    CCDS10934.1
    UniProtKB/Swiss-Prot
    Q9HAY6
    Related
    ENSP00000258168.2, ENST00000258168.7
    Conserved Domains (1) summary
    pfam03055
    Location:9519
    RPE65; Retinal pigment epithelial membrane protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    81238448..81291142
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017023287.2XP_016878776.1  beta,beta-carotene 15,15'-dioxygenase isoform X3

  2. XM_017023286.2XP_016878775.1  beta,beta-carotene 15,15'-dioxygenase isoform X2

  3. XM_011523109.2XP_011521411.1  beta,beta-carotene 15,15'-dioxygenase isoform X1

    Conserved Domains (1) summary
    pfam03055
    Location:9452
    RPE65; Retinal pigment epithelial membrane protein
  4. XM_017023288.2XP_016878777.1  beta,beta-carotene 15,15'-dioxygenase isoform X4

  5. XM_017023289.1XP_016878778.1  beta,beta-carotene 15,15'-dioxygenase isoform X5

RNA

  1. XR_002957813.1 RNA Sequence

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