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

Gene ID: 53630, updated on 5-Mar-2024

Summary

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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; AllianceGenome:HGNC:13815
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
mouse all
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Genomic context

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Location:
16q23.2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (81238689..81291142)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (87299473..87351905)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (81272294..81324747)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7751 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7752 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81150474-81151032 Neighboring gene RNA, U6 small nuclear 1191, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81171151-81171768 Neighboring gene Sharpr-MPRA regulatory region 3111 Neighboring gene glycine cleavage system protein H Neighboring gene polycystin 1 like 2 (gene/pseudogene) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:81191716-81192216 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:81246022-81246522 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:81255488-81255706 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11178 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7753 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7754 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7755 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:81420479-81420673 Neighboring gene gigaxonin Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81431403-81431953 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81430852-81431402 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11179 Neighboring gene Sharpr-MPRA regulatory region 12949 Neighboring gene microRNA 4720 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81466113-81467024 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81467025-81467934 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81477254-81477786 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7759 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7758 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7757 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7756 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81479951-81480716 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81480717-81481480 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81482247-81483010 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11182 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81489297-81489981 Neighboring gene Sharpr-MPRA regulatory region 2768 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81491353-81492038 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81497377-81497916 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:81503436-81503936 Neighboring gene c-Maf inducing protein Neighboring gene peptidylprolyl isomerase A pseudogene 51

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Common variant rs6564851 near the beta-carotene oxygenase 1 gene is associated with plasma triglycerides levels in middle-aged Mexican men adults. León-Reyes G, et al. Nutr Res, 2022 Jul. PMID 35461060
  2. SNP rs6564851 in the BCO1 Gene Is Associated with Varying Provitamin a Plasma Concentrations but Not with Retinol Concentrations among Adolescents from Rural Ghana. Graßmann S, et al. Nutrients, 2020 Jun 16. PMID 32560166, Free PMC Article
  3. β-Carotene 15,15'-oxygenase inhibits cancer cell stemness and metastasis by regulating differentiation-related miRNAs in human neuroblastoma. Kim YS, et al. J Nutr Biochem, 2019 Jul. PMID 31048207
  4. Carotenoid metabolic (BCO1) polymorphisms and personal behaviors modify the risk of coronary atherosclerosis: a nested case-control study in Han Chinese with dyslipidaemia (2013-2016). Cai X, et al. Asia Pac J Clin Nutr, 2019. PMID 30896431
  5. Single Nucleotide Polymorphisms in β-Carotene Oxygenase 1 are Associated with Plasma Lycopene Responses to a Tomato-Soy Juice Intervention in Men with Prostate Cancer. Moran NE, et al. J Nutr, 2019 Mar 1. PMID 30801647, Free PMC Article

See all (52) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Association of MARC1, ADCY5, and BCO1 Variants with the Lipid Profile, Suggests an Additive Effect for Hypertriglyceridemia in Mexican Adult Men.
    Title: Association of MARC1, ADCY5, and BCO1 Variants with the Lipid Profile, Suggests an Additive Effect for Hypertriglyceridemia in Mexican Adult Men.
  2. Association of TGFB1 rs1800469 and BCMO1 rs6564851 with coronary heart disease and IL1B rs16944 with all-cause mortality in men from the Northern Ireland PRIME study.
    Title: Association of TGFB1 rs1800469 and BCMO1 rs6564851 with coronary heart disease and IL1B rs16944 with all-cause mortality in men from the Northern Ireland PRIME study.
  3. Common variant rs6564851 near the beta-carotene oxygenase 1 gene is associated with plasma triglycerides levels in middle-aged Mexican men adults.
    Title: Common variant rs6564851 near the beta-carotene oxygenase 1 gene is associated with plasma triglycerides levels in middle-aged Mexican men adults.
  4. ALDH2, ADCY3 and BCMO1 polymorphisms and lifestyle-induced traits are jointly associated with CAD risk in Chinese Han people.
    Title: ALDH2, ADCY3 and BCMO1 polymorphisms and lifestyle-induced traits are jointly associated with CAD risk in Chinese Han people.
  5. SNP rs6564851 in the BCO1 Gene Is Associated with Varying Provitamin a Plasma Concentrations but Not with Retinol Concentrations among Adolescents from Rural Ghana.
    Title: SNP rs6564851 in the BCO1 Gene Is Associated with Varying Provitamin a Plasma Concentrations but Not with Retinol Concentrations among Adolescents from Rural Ghana.
  6. Evolutionary aspects and enzymology of metazoan carotenoid cleavage oxygenases.
    Title: Evolutionary aspects and enzymology of metazoan carotenoid cleavage oxygenases.
  7. Enzymology of vertebrate carotenoid oxygenases.
    Title: Enzymology of vertebrate carotenoid oxygenases.
  8. beta-Carotene 15,15'-oxygenase inhibits cancer cell stemness and metastasis by regulating differentiation-related miRNAs in human neuroblastoma.
    Title: β-Carotene 15,15'-oxygenase inhibits cancer cell stemness and metastasis by regulating differentiation-related miRNAs in human neuroblastoma.
  9. beta-Carotene Oxygenase 1 Activity Modulates Circulating Cholesterol Concentrations in Mice and Humans.
    Title: β-Carotene Oxygenase 1 Activity Modulates Circulating Cholesterol Concentrations in Mice and Humans.
  10. Two BCO1 single nucleotide polymorphism (SNP) genotypes were significant predictors of the change in plasma lycopene associated with consumption of a tomato-soy beverage, with SNP effects differing in magnitude and direction, depending on the level of juice intake.
    Title: Single Nucleotide Polymorphisms in β-Carotene Oxygenase 1 are Associated with Plasma Lycopene Responses to a Tomato-Soy Juice Intervention in Men with Prostate Cancer.
Submit: New GeneRIF Correction See all GeneRIFs (40)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Hereditary hypercarotenemia and vitamin A deficiency
MedGen: C2676023 OMIM: 115300 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
EBI GWAS Catalog
Hereditary hypercarotenemia and vitamin A deficiency
EBI GWAS Catalog
GTR
MedGen
OMIM

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ10730

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables beta-carotene 15,15'-dioxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables beta-carotene 15,15'-dioxygenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables beta-carotene 15,15'-dioxygenase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables carotenoid dioxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in beta-carotene metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in carotene catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in carotene catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in carotene catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in retinal metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in retinal metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in retinal metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in retinal metabolic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in retinoid metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in retinol metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in vitamin A biosynthetic process NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  

General protein information

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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
XP_047290170.1
XP_054236446.1
XP_054236447.1
XP_054236448.1
XP_054236449.1
XP_054236450.1
XP_054236451.1

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

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_017429.3 → NP_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
    A0AV48, A0AV50, Q9HAY6, Q9NVH5
    UniProtKB/TrEMBL
    B4DJC0
    Related
    ENSP00000258168.2, ENST00000258168.7
    Conserved Domains (1) summary
    pfam03055
    Location:9 → 519
    RPE65; Retinal pigment epithelial membrane protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    81238689..81291142
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017023287.3 → XP_016878776.1  beta,beta-carotene 15,15'-dioxygenase isoform X3

  2. XM_017023286.3 → XP_016878775.1  beta,beta-carotene 15,15'-dioxygenase isoform X2

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

    Conserved Domains (1) summary
    pfam03055
    Location:9 → 452
    RPE65; Retinal pigment epithelial membrane protein

  4. XM_017023288.3 → XP_016878777.1  beta,beta-carotene 15,15'-dioxygenase isoform X4

  5. XM_047434214.1 → XP_047290170.1  beta,beta-carotene 15,15'-dioxygenase isoform X6

  6. XM_017023289.2 → XP_016878778.1  beta,beta-carotene 15,15'-dioxygenase isoform X5

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791800.1 Reference GRCh38.p14 PATCHES

    Range
    286950..333895
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    87299473..87351905
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054380473.1 → XP_054236448.1  beta,beta-carotene 15,15'-dioxygenase isoform X3

  2. XM_054380472.1 → XP_054236447.1  beta,beta-carotene 15,15'-dioxygenase isoform X2

  3. XM_054380471.1 → XP_054236446.1  beta,beta-carotene 15,15'-dioxygenase isoform X1

  4. XM_054380474.1 → XP_054236449.1  beta,beta-carotene 15,15'-dioxygenase isoform X4

  5. XM_054380476.1 → XP_054236451.1  beta,beta-carotene 15,15'-dioxygenase isoform X6

  6. XM_054380475.1 → XP_054236450.1  beta,beta-carotene 15,15'-dioxygenase isoform X5

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9HAY6.1 GenPept UniProtKB/Swiss-Prot:Q9HAY6

Gene LinkOut

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