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BCO1 Gene(Protein Coding)

Beta-Carotene Oxygenase 1

GCID:
GC16P081238
GIFtS:
42
Genes Participants
UDN Logo

Aliases for BCO1 Gene

Aliases for BCO1 Gene

  • Beta-Carotene Oxygenase 1 2 3 4 5
  • Beta-Carotene 15,15-Monooxygenase 1 2 3
  • Beta-Carotene 15, 15-Dioxygenase 1 2 3
  • Beta-Carotene Dioxygenase 1 3 4
  • BCDO1 3 4
  • BCMO1 3 4
  • BCDO 3 4
  • Beta,Beta-Carotene 15,15-Monooxygenase 3
  • Beta,Beta-Carotene 15,15-Dioxygenase 3
  • EC 1.14.99.36 56
  • EC 1.13.11.63 4
  • BCMO 3
  • BCO 3

External Ids for BCO1 Gene

Previous HGNC Symbols for BCO1 Gene

  • BCDO
  • BCDO1
  • BCMO1

Summaries for BCO1 Gene

Entrez Gene Summary for BCO1 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]

GeneCards Summary for BCO1 Gene

BCO1 (Beta-Carotene Oxygenase 1) is a Protein Coding gene. Diseases associated with BCO1 include Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant and Hereditary Hypercarotenemia And Vitamin A Deficiency. Among its related pathways are Metabolism and Vitamin A and Carotenoid Metabolism. Gene Ontology (GO) annotations related to this gene include monooxygenase activity and beta-carotene 15,15-monooxygenase activity. An important paralog of this gene is BCO2.

UniProtKB/Swiss-Prot for BCO1 Gene

  • Symmetrically cleaves beta-carotene into two molecules of retinal using a dioxygenase mechanism.

Additional gene information for BCO1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BCO1 Gene

Genomics for BCO1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for BCO1 Gene

Promoters and enhancers for BCO1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH16I081237 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 550.8 -0.2 -210 2.3 SOX13 TFAP4 ZFP64 SIN3A MAX ZNF384 ZIC2 YY1 ZNF335 ZNF366 BCO1 PKD1L2
GH16I081239 Enhancer 0.3 ENCODE 550.8 +1.0 1003 0.2 PRDM10 BCO1 ENSG00000280182
GH16I081213 Enhancer 0.4 FANTOM5 28.6 -25.2 -25221 0.3 GATA3 HLF NRF1 BCO1 PKD1L2 RNU6-1191P
GH16I081220 Promoter 1 EPDnew 0.4 -18.0 -18034 0.1 SMARCE1 HDAC1 MEIS2 SOX6 TAL1 CEBPG DPF2 ZEB2 ZNF395 CC2D1A PKD1L2 BCO1
GH16I081272 Enhancer 0.8 ENCODE 0.3 +38.0 38028 7 PKNOX1 CLOCK NEUROD1 SIN3A ZBTB40 ZNF121 ZNF207 ATF7 FOS RCOR1 GAN PKD1L2 RNU6-1191P ENSG00000280182 GC16M081310 BCO1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BCO1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for BCO1 Gene

Genomic Locations for BCO1 Gene
chr16:81,238,448-81,291,142
(GRCh38/hg38)
Size:
52,695 bases
Orientation:
Plus strand
chr16:81,272,053-81,324,747
(GRCh37/hg19)

Genomic View for BCO1 Gene

Genes around BCO1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BCO1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BCO1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for BCO1 Gene

Proteins for BCO1 Gene

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  1. Antibody
  2. Protein
  3. Assay

  • Protein details for BCO1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HAY6-BCDO1_HUMAN
    Recommended name:
    Beta,beta-carotene 15,15-dioxygenase
    Protein Accession:
    Q9HAY6
    Secondary Accessions:
    • A0AV48
    • A0AV50
    • Q9NVH5

    Protein attributes for BCO1 Gene

    Size:
    547 amino acids
    Molecular mass:
    62637 Da
    Cofactor:
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Quaternary structure:
    No Data Available

neXtProt entry for BCO1 Gene

Selected DME Specific Peptides for BCO1 Gene

Q9HAY6:
  • KAFSYLSHTIP
  • PSYYHSFG
  • LDAKSFTEL
  • KYVAVNLATSHPHYD
  • YNHWFDG
  • LLRNGPGMHT
  • FTDNCLINIMK
  • PFLLILDAK
  • NIEANRIVVSEFGTMAYPDPCKNIF

Post-translational modifications for BCO1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BCO1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for BCO1 Gene

Gene Families for BCO1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for BCO1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BCO1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9HAY6

UniProtKB/Swiss-Prot:

BCDO1_HUMAN :
  • Belongs to the carotenoid oxygenase family.
Family:
  • Belongs to the carotenoid oxygenase family.
genes like me logo Genes that share domains with BCO1: view

Function for BCO1 Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for BCO1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Beta-carotene + O(2) = 2 all-trans-retinal.
UniProtKB/Swiss-Prot Function:
Symmetrically cleaves beta-carotene into two molecules of retinal using a dioxygenase mechanism.

Enzyme Numbers (IUBMB) for BCO1 Gene

Phenotypes From GWAS Catalog for BCO1 Gene

Gene Ontology (GO) - Molecular Function for BCO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003834 beta-carotene 15,15-monooxygenase activity TAS,IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0016702 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen IEA --
GO:0046872 metal ion binding IEA --
GO:0051213 dioxygenase activity IEA --
genes like me logo Genes that share ontologies with BCO1: view
genes like me logo Genes that share phenotypes with BCO1: view

Human Phenotype Ontology for BCO1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BCO1 Gene

MGI Knock Outs for BCO1:

Animal Model Products

Inhibitory RNA Products

No data available for Transcription Factor Targets and HOMER Transcription for BCO1 Gene

Localization for BCO1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BCO1 gene
Compartment Confidence
cytosol 5
nucleus 3
cytoskeleton 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (1)
  • Microtubule organizing center (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BCO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with BCO1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for BCO1 Gene

Pathways & Interactions for BCO1 Gene

genes like me logo Genes that share pathways with BCO1: view

Pathways by source for BCO1 Gene

1 BioSystems pathway for BCO1 Gene
2 KEGG pathways for BCO1 Gene
1 GeneGo (Thomson Reuters) pathway for BCO1 Gene

UniProtKB/Swiss-Prot Q9HAY6-BCDO1_HUMAN

  • Pathway: Cofactor metabolism; retinol metabolism.

Gene Ontology (GO) - Biological Process for BCO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0035238 vitamin A biosynthetic process NAS 15983114
GO:0042572 retinol metabolic process IEA --
GO:0042574 retinal metabolic process NAS,IEA 15983114
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with BCO1: view

No data available for SIGNOR curated interactions for BCO1 Gene

Drugs & Compounds for BCO1 Gene

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  1. Drug

(5) Drugs for BCO1 Gene - From: ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Oxygen Approved, Vet_approved Pharma 0
Water Approved Pharma 0
B-Carotene Approved Nutra 68
Retinol acetate Pharma Unsaturated nutritional hydrocarbons 110

(9) Additional Compounds for BCO1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
15,15'-Dihydroxy-beta-carotene
9-cis-Retinal
  • 9-cis-Retinal
  • 9-cis-Retinaldehyde
  • 9-cis-Vitamin A aldehyde
  • cis-9-Retinal
  • Isoretinene A
 514-85-2
beta-Carotene-15,15'-epoxide
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
 15438-31-0
Retinal
  • 3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-Nonatetraenal
  • All-E-Retinal
  • All-epsilon-Retinal
  • All-trans-Retinal
  • All-trans-Retinaldehyde
 116-31-4

(1) ApexBio Compounds for BCO1 Gene

Compound Action Cas Number
Vitamin A Acetate Unsaturated nutritional hydrocarbons 127-47-9
genes like me logo Genes that share compounds with BCO1: view

Drug Products

Transcripts for BCO1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for BCO1 Gene

(6) REFSEQ mRNAs :
(23) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for BCO1 Gene

No ASD Table

Relevant External Links for BCO1 Gene

GeneLoc Exon Structure for
BCO1
ECgene alternative splicing isoforms for
BCO1

Expression for BCO1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BCO1 Gene

mRNA expression in normal human tissues for BCO1 Gene
mRNA expression by GTEx for BCO1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of BCO1 Gene:

BCO1

mRNA Expression by UniProt/SwissProt for BCO1 Gene:

Q9HAY6-BCDO1_HUMAN
Tissue specificity: Highly expressed in retinal pigment epithelium. Also expressed in kidney, testis, liver, brain, small intestine and colon.

Evidence on tissue expression from TISSUES for BCO1 Gene

  • Intestine(4.4)
  • Eye(4.3)
  • Nervous system(2.1)
  • Liver(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BCO1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • immune
  • integumentary
  • nervous
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • blood
  • hair
  • peripheral nervous system
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with BCO1: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for BCO1 Gene

Orthologs for BCO1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for BCO1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia BCMO1 33 34
  • 95.82 (n)
dog
(Canis familiaris)
 Mammalia BCMO1 33 34
  • 87.93 (n)
cow
(Bos Taurus)
 Mammalia BCMO1 33 34
  • 83.71 (n)
mouse
(Mus musculus)
 Mammalia Bcmo1 33 34
  • 83.58 (n)
Bco1 16
rat
(Rattus norvegicus)
 Mammalia Bcmo1 33
  • 83.02 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 34
  • 76 (a)
 OneToMany
-- 34
  • 70 (a)
 OneToMany
oppossum
(Monodelphis domestica)
 Mammalia BCMO1 34
  • 71 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves BCMO1 33 34
  • 70.45 (n)
lizard
(Anolis carolinensis)
 Reptilia BCMO1 34
  • 69 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia bcmo1 33
  • 66.47 (n)
zebrafish
(Danio rerio)
 Actinopterygii bcmo1l 33
  • 62.78 (n)
bcmo1 34
  • 60 (a)
 OneToOne
bcdo1 33
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.2837 33
worm
(Caenorhabditis elegans)
 Secernentea bcmo-1 33
  • 47.27 (n)
thale cress
(Arabidopsis thaliana)
 eudicotyledons CCD8 33
  • 45.31 (n)
rice
(Oryza sativa)
 Liliopsida Os01g0746400 33
  • 46.93 (n)
bread mold
(Neurospora crassa)
 Ascomycetes NCU11424 33
  • 45.89 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.9281 34
  • 36 (a)
 OneToOne
Species where no ortholog for BCO1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BCO1 Gene

ENSEMBL:
Gene Tree for BCO1 (if available)
TreeFam:
Gene Tree for BCO1 (if available)

Paralogs for BCO1 Gene

Paralogs for BCO1 Gene

genes like me logo Genes that share paralogs with BCO1: view

Variants for BCO1 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for BCO1 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs119478057 pathogenic, Hypercarotenemia and vitamin a deficiency, autosomal dominant, Hypercarotenemia and vitamin A deficiency, autosomal dominant (ADHVAD) [MIM:115300] 81,264,677(+) C/A/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant, upstream_transcript_variant
rs141781255 uncertain-significance, not provided 81,290,555(+) G/A 3_prime_UTR_variant, coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1000021684 -- 81,269,350(+) C/T intron_variant
rs1000052727 -- 81,252,479(+) C/G/T genic_upstream_transcript_variant, intron_variant
rs1000074342 -- 81,269,138(+) T/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for BCO1 Gene

Variant ID Type Subtype PubMed ID
dgv3048n100 CNV gain 25217958
esv2714778 CNV deletion 23290073
esv2751615 CNV gain 17911159
esv2761925 CNV loss 21179565
esv3409188 CNV insertion 20981092
esv3582386 CNV loss 25503493
esv3639328 CNV loss 21293372
esv3892912 CNV gain 25118596
esv9222 OTHER inversion 19470904
nsv103709 CNV deletion 16902084
nsv1058690 CNV loss 25217958
nsv1061931 CNV gain 25217958
nsv1064529 CNV loss 25217958
nsv1123073 CNV deletion 24896259
nsv1127518 CNV deletion 24896259
nsv457573 CNV gain 19166990
nsv527288 CNV gain 19592680
nsv573354 CNV gain 21841781

Variation tolerance for BCO1 Gene

Residual Variation Intolerance Score: 67.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.55; 88.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BCO1 Gene

Human Gene Mutation Database (HGMD)
BCO1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BCO1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BCO1 Gene

Disorders for BCO1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for BCO1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hypercarotenemia and vitamin a deficiency, autosomal dominant
  • hcvad
hereditary hypercarotenemia and vitamin a deficiency
occlusion precerebral artery
  • occlusion and stenosis of multiple and bilateral precerebral arteries
carotid artery occlusion
  • occlusion and stenosis of carotid artery
endemic typhus
  • cat flea rickettsiosis
- elite association - COSMIC cancer census association via MalaCards
Search BCO1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BCDO1_HUMAN
  • Hypercarotenemia and vitamin A deficiency, autosomal dominant (ADHVAD) [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 mutations affecting the gene represented in this entry.

Additional Disease Information for BCO1

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BCO1: view

No data available for Genatlas for BCO1 Gene

Publications for BCO1 Gene

  1. Cloning and characterization of a human beta,beta-carotene-15,15'-dioxygenase that is highly expressed in the retinal pigment epithelium. (PMID: 11401432) Yan W … Zack DJ (Genomics 2001) 3 4 22 58
  2. The human enzyme that converts dietary provitamin A carotenoids to vitamin A is a dioxygenase. (PMID: 24668807) dela Seña C … Harrison EH (The Journal of biological chemistry 2014) 3 4 58
  3. Substrate specificity of purified recombinant human β-carotene 15,15'-oxygenase (BCO1). (PMID: 24187135) dela Seña C … Harrison EH (The Journal of biological chemistry 2013) 2 3 58
  4. Two common single nucleotide polymorphisms in the gene encoding beta-carotene 15,15'-monoxygenase alter beta-carotene metabolism in female volunteers. (PMID: 19103647) Leung WC … Lietz G (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2009) 3 22 58
  5. Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study. (PMID: 19185284) Ferrucci L … Frayling TM (American journal of human genetics 2009) 3 22 58

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