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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
  • EC 1.14.99.36 63
  • 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 Signaling by GPCR and Metabolism. 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.

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

Genomics for BCO1 Gene

Regulatory Elements for BCO1 Gene

Promoters for BCO1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BCO1 on UCSC Golden Path with GeneCards custom track

Genomic Location for BCO1 Gene

Chromosome:
16
Start:
81,238,448 bp from pter
End:
81,291,142 bp from pter
Size:
52,695 bases
Orientation:
Plus strand

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 StructureGene Density

RefSeq DNA sequence for BCO1 Gene

Proteins for BCO1 Gene

  • 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

Proteomics data for BCO1 Gene at MOPED

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

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

No data available for Gene Families for BCO1 Gene

Function for BCO1 Gene

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

Gene Ontology (GO) - Molecular Function for BCO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003834 beta-carotene 15,15-monooxygenase activity IEA,TAS --
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

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

Localization for BCO1 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components 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

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:0007603 phototransduction, visible light TAS --
GO:0035238 vitamin A biosynthetic process NAS 15983114
GO:0042574 retinal metabolic process IEA,NAS 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

(2) Drugs for BCO1 Gene - From: Novoseek and ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Retinol acetate Pharma Unsaturated nutritional hydrocarbons 85

(12) 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
B-Carotene
  • (all-E)-1,1'-(3,7,12,16-Tetramethyl-1,3,5,7,9,11,13,15,17-octadecanonaene-1,18-diyl)bis
  • (all-E)-1,1'-(3,7,12,16-tetramethyl-1,3,5,7,9,11,13,15,17-octadecanonaene-1,18-diyl)bis[2,6,6-trimethyl-Cyclohexene
  • All-E-b-Carotene
  • All-epsilon-beta-Carotene
  • All-trans-b-Carotene
7235-40-7
beta-Carotene-15,15'-epoxide
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0

(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

Transcripts for BCO1 Gene

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

mRNA expression in normal human tissues for BCO1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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.
genes like me logo Genes that share expression patterns with BCO1: view

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia BCMO1 35
  • 83.71 (n)
  • 82.71 (a)
BCMO1 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BCMO1 35
  • 87.93 (n)
  • 87.68 (a)
BCMO1 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bcmo1 35
  • 83.58 (n)
  • 86.3 (a)
Bco1 16
Bcmo1 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BCMO1 35
  • 95.82 (n)
  • 93.94 (a)
BCMO1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bcmo1 35
  • 83.02 (n)
  • 85.37 (a)
oppossum
(Monodelphis domestica)
Mammalia BCMO1 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 70 (a)
OneToMany
-- 36
  • 76 (a)
OneToMany
chicken
(Gallus gallus)
Aves BCMO1 35
  • 70.45 (n)
  • 70.77 (a)
BCMO1 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BCMO1 36
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bcmo1 35
  • 66.47 (n)
  • 68.8 (a)
zebrafish
(Danio rerio)
Actinopterygii bcdo1 35
bcmo1l 35
  • 62.78 (n)
  • 57.28 (a)
bcmo1 36
  • 60 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2837 35
worm
(Caenorhabditis elegans)
Secernentea bcmo-1 35
  • 47.27 (n)
  • 36.23 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons CCD8 35
  • 45.31 (n)
  • 33.48 (a)
rice
(Oryza sativa)
Liliopsida Os01g0746400 35
  • 46.93 (n)
  • 31.36 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU11424 35
  • 45.89 (n)
  • 30.33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9281 36
  • 36 (a)
OneToOne
Species with no ortholog for BCO1:
  • 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

Sequence variations from dbSNP and Humsavar for BCO1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs12934922 - 81,268,089(+) CGGAG(A/T)ATGAG reference, missense
rs7501331 - 81,280,891(+) AGTGG(C/T)ATCTA intron-variant, reference, missense
rs119478057 Hypercarotenemia and vitamin A deficiency, autosomal dominant (ADHVAD) 81,264,677(+) GGCAA(C/T)GTCAC reference, missense, utr-variant-5-prime
rs3803651 -- 81,285,277(+) GTTGG(A/G)TAATT intron-variant
rs3803652 -- 81,290,719(+) GAGAG(A/C)TTGTC utr-variant-3-prime

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)

Relevant External Links for BCO1 Gene

HapMap Linkage Disequilibrium report
BCO1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for BCO1 Gene

Disorders for BCO1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for BCO1 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, and GeneCards

- 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.

Relevant External Links for BCO1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BCO1
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- prime dioxygenase that is highly expressed in the retinal pigment epithelium. (PMID: 11401432) Yan W. … Zack D.J. (Genomics 2001) 3 4 23 67
  2. Substrate specificity of purified recombinant human I^-carotene 15,15'-oxygenase (BCO1). (PMID: 24187135) dela SeA+a C. … Harrison E.H. (J. Biol. Chem. 2013) 2 3
  3. Two common single nucleotide polymorphisms in the gene encoding beta-carotene 15,15'-monoxygenase alter beta-carotene metabolism in female volunteers. (PMID: 19103647) Leung W.C. … Lietz G. (FASEB J. 2009) 3 23
  4. 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 T.M. (Am. J. Hum. Genet. 2009) 3 23
  5. Circulating beta-carotene levels and type 2 diabetes-cause or effect? (PMID: 19662379) Perry J.R. … Frayling T.M. (Diabetologia 2009) 3 23

Products for BCO1 Gene

Sources for BCO1 Gene

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