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

    Gene ID: 53630, updated on 2-Nov-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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    See BCO1 in Genome Data Viewer
    Location:
    16q23.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (81238689..81291142)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (87299473..87351905)
    RS_2024_09 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 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. Dietary patterns, BCMO1 polymorphisms, and primary lung cancer risk in a Han Chinese population: a case-control study in Southeast China. He F, et al. BMC Cancer, 2018 Apr 19. PMID 29673335, Free PMC Article
    2. Characterization of human β,β-carotene-15,15'-monooxygenase (BCMO1) as a soluble monomeric enzyme. Kowatz T, et al. Arch Biochem Biophys, 2013 Nov 15. PMID 23727499, Free PMC Article
    3. Strong and weak plasma response to dietary carotenoids identified by cluster analysis and linked to beta-carotene 15,15'-monooxygenase 1 single nucleotide polymorphisms. Wang TT, et al. J Nutr Biochem, 2013 Aug. PMID 23517913
    4. β-carotene regulates expression of β-carotene 15,15'-monoxygenase in human alveolar epithelial cells. Gong X, et al. Arch Biochem Biophys, 2013 Nov 15. PMID 24071514
    5. β-Carotene 15,15'-monooxygenase 1 single nucleotide polymorphisms in relation to plasma carotenoid and retinol concentrations in women of European descent. Hendrickson SJ, et al. Am J Clin Nutr, 2012 Dec. PMID 23134893, 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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    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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