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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BCMO1 Gene

protein-coding   GIFtS: 59
GCID: GC16P081272

Beta-Carotene 15,15'-Monooxygenase 1

(Previous names: beta-carotene 15, 15'-dioxygenase 1)
(Previous symbols: BCDO, BCDO1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Beta-Carotene 15,15'-Monooxygenase 11 2     EC 1.14.99.363 8
BCDO1 2 3 5     BCO12 5
BCDO11 2 3     BCMO2
Beta-Carotene 15, 15'-Dioxygenase 11 2     BCO2
Beta-Carotene Dioxygenase 12 3     Beta,Beta-Carotene 15,15'-Monooxygenase2

External Ids:    HGNC: 138151   Entrez Gene: 536302   Ensembl: ENSG000001356977   OMIM: 6057485   UniProtKB: Q9HAY63   

Export aliases for BCMO1 gene to outside databases

Previous GC identifers: GC16P081051 GC16P079829 GC16P067027


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BCMO1 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 BCMO1 Gene: 
BCMO1 (beta-carotene 15,15'-monooxygenase 1) is a protein-coding gene. Diseases associated with BCMO1 include hypercarotenemia and vitamin a deficiency, autosomal dominant, and endemic typhus, and among its related super-pathways are Visual phototransduction and Retinol 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: BCDO1_HUMAN, Q9HAY6
Function: Symmetrically cleaves beta-carotene into two molecules of retinal. The reaction proceeds in three
stages, epoxidation of the 15,15'-double bond, hydration of the double bond leading to ring opening, and
oxidative cleavage of the diol formed




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NT_010498.15  NC_018927.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BCMO1 gene promoter:
         Max1   LHX3b/Lhx3b   MyoD   S8   GATA-6   FOXJ2 (long isoform)   LHX3a/Lhx3a   Sox9   FOXJ2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBCMO1 promoter sequence
   Search SABiosciences Chromatin IP Primers for BCMO1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BCMO1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q23.2   Ensembl cytogenetic band:  16q23.2   HGNC cytogenetic band: 16q23.2

BCMO1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BCMO1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P081272:  view genomic region     (about GC identifiers)

Start:
81,272,053 bp from pter      End:
81,324,747 bp from pter
Size:
52,695 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: BCDO1_HUMAN, Q9HAY6 (See protein sequence)
Recommended Name: Beta,beta-carotene 15,15'-monooxygenase  
Size: 547 amino acids; 62637 Da
Cofactor: Binds 1 Fe(2+) ion per subunit (By similarity)
Secondary accessions: A0AV48 A0AV50 Q9NVH5

Explore the universe of human proteins at neXtProt for BCMO1: NX_Q9HAY6

Explore proteomics data for BCMO1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9HAY6

  • 4/9 DME Specific Peptides for BCMO1 (Q9HAY6) (see all 9)
     YNHWFDG  PSYYHSFG  PFLLILDAK  LDAKSFTEL 

    BCMO1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BCMO1 Protein Expression
    REFSEQ proteins: NP_059125.2  
    ENSEMBL proteins: 
     ENSP00000258168   ENSP00000457910   ENSP00000455219   ENSP00000400586  
    Reactome Protein details: Q9HAY6
    Human Recombinant Protein Products for BCMO1: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    BCMO1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR004294 Carotenoid_Oase

    Graphical View of Domain Structure for InterPro Entry Q9HAY6

    ProtoNet protein and cluster: Q9HAY6

    UniProtKB/Swiss-Prot: BCDO1_HUMAN, Q9HAY6
    Similarity: Belongs to the carotenoid oxygenase family


    BCMO1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BCDO1_HUMAN, Q9HAY6
    Function: Symmetrically cleaves beta-carotene into two molecules of retinal. The reaction proceeds in three
    stages, epoxidation of the 15,15'-double bond, hydration of the double bond leading to ring opening, and
    oxidative cleavage of the diol formed
    Catalytic activity: Beta-carotene + O(2) = 2 all-trans-retinal

         Enzyme Number (IUBMB): EC 1.14.99.361 2

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003834beta-carotene 15,15'-monooxygenase activity TAS--
    GO:0004497monooxygenase activity IEA--
    GO:0046872metal ion binding IEA--
         
    BCMO1 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Bcmo1):
     growth/size  homeostasis/metabolism  liver/biliary system 

    BCMO1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for BCMO1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for BCMO1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BCMO1 
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    hsa-miR-942 hsa-miR-3673 hsa-miR-561 hsa-miR-330-3p
    SwitchGear 3'UTR luciferase reporter plasmidBCMO1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BCMO1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for BCMO1 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Visual phototransduction
    Visual phototransduction0.48
    Diseases associated with visual transduction0.47
    Retinoid metabolism and transport0.48
    2Retinol metabolism
    Retinol metabolism0.95
    3Signaling by GPCR
    Signal Transduction0.55
    4Metabolism
    Metabolic pathways0.40
    5Drug metabolism - cytochrome P450
    Retinol metabolism0.39

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for BCMO1
        Retinol metabolism


    1 GeneGo (Thomson Reuters) Pathway for BCMO1
        Retinol metabolism

    1 BioSystems Pathway for BCMO1
        Vitamin A and carotenoid metabolism

    5        Reactome Pathways for BCMO1
        Diseases associated with visual transduction
    Retinoid metabolism and transport
    Signal Transduction
    Visual phototransduction
    Disease


    2         Kegg Pathways  (Kegg details for BCMO1):
        Retinol metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: BCDO1_HUMAN, Q9HAY6
    Pathway: Cofactor metabolism; retinol metabolism


    BCMO1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BCMO1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    5/17 Interacting proteins for BCMO1 (Q9HAY63 ENSP000002581684) via UniProtKB, MINT, STRING, and/or I2D (see all 17)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    ADH1AENSP000002096684STRING: ENSP00000209668
    ADH5ENSP000002964124STRING: ENSP00000296412
    ALDH1A1ENSP000002977854STRING: ENSP00000297785
    ALDH1A2ENSP000002497504STRING: ENSP00000249750
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001523retinoid metabolic process TAS--
    GO:0007603phototransduction, visible light TAS--
    GO:0035238vitamin A biosynthetic process NAS15983114
    GO:0042572retinol metabolic process IEA--
    GO:0042574retinal metabolic process NAS15983114

    BCMO1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    BCMO1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BCMO1 (BCDO1)

    5 HMDB Compounds for BCMO1    About this table
    CompoundSynonyms CAS #PubMed Ids
    9-cis-Retinal9-cis-Retinal (see all 5)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 (see all 22)7235-40-7--
    IronArmco iron (see all 19)7439-89-6--
    OxygenOxygen (see all 5)7782-44-7--
    Retinal3,7-dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-Nonatetraenal (see all 19)116-31-4--

    5 Novoseek inferred chemical compound relationships for BCMO1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    all trans beta-carotene 88.8 2 17368314 (1), 11401432 (1)
    betacarotene 81.4 53 20372966 (5), 18004512 (4), 16186334 (4), 17368314 (2) (see all 9)
    vitamin a 71.1 16 16186334 (2), 17890117 (1), 20372966 (1), 19103647 (1) (see all 6)
    retinoid 65.9 4 16504037 (1), 11401432 (1), 16186334 (1)
    retinoic acid 56.5 4 17890117 (1), 18004512 (1), 16186334 (1)

    Search CenterWatch for drugs/clinical trials and news about BCMO1 / BCDO1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for BCMO1 gene: 
    NM_017429.2  

    Unigene Cluster for BCMO1:

    Beta-carotene 15,15'-monooxygenase 1
    Hs.212172  [show with all ESTs]
    Unigene Representative Sequence: NM_017429
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000258168(uc002fgn.1 uc010vnp.1) ENST00000563804 ENST00000564552(uc002fgm.1)
    ENST00000425577
    miRNA
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    hsa-miR-942 hsa-miR-3673 hsa-miR-561 hsa-miR-330-3p
    SwitchGear 3'UTR luciferase reporter plasmidBCMO1 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BCMO1

    Additional mRNA sequence: 

    AF294900.1 AK001592.1 AK096282.1 AK296011.1 BC022269.1 BC126210.1 BC126212.1 

    3 DOTS entries:

    DT.40263180  DT.101960261  DT.99935704 

    23 AceView cDNA sequences:

    AF294900 BC022269 BE326832 NM_017429 BM674791 AK001592 AI950094 BM717431 
    AW470865 BM715422 AA364587 BG616909 AU130712 BM683637 BM717865 AA317342 
    AI916142 BM682396 BM929698 BX091843 AI673642 AU152615 AI886145 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BCMO1 expression in normal human tissues (normalized intensities)      BCMO1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCGTAATATA
    BCMO1 Expression
    About this image


    BCMO1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/20 selected tissues (see all 20) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
             brain/midbrain   
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Retina
             sensory organ/eye/cornea   
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             heart/atrium   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 2 entries
             rectum ; glandular cells   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon

    See BCMO1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BCMO1

    SOURCE GeneReport for Unigene cluster: Hs.212172

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

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BCMO1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for BCMO1 gene from 6/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bcmo11 , 5 beta-carotene 15,15'-monooxygenase1, 5 83.58(n)1
    86.3(a)1
      8 (63.61 cM)5
    638571  NM_021486.31  NP_067461.21 
     1170958545 
    chicken
    (Gallus gallus)
    Aves BCMO11 beta-carotene 15,15'-monooxygenase 1 70.38(n)
    70.77(a)
      395346  NM_204635.1  NP_989966.1 
    lizard
    (Anolis carolinensis)
    Reptilia BCMO16
    Uncharacterized protein
    69(a)
    1 ↔ 1
    LGc(5809537-5835833)
    zebrafish
    (Danio rerio)
    Actinopterygii bcdo12 beta-carotene 15, 15'-dioxygenase 72.74(n)   84039  BC049331.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ninaB6
    neither inactivation nor afterpotential B
    29(a)
    1 → many
    3R(9526308-9528844)
    worm
    (Caenorhabditis elegans)
    Secernentea bcmo-11 Protein BCMO-1 47.01(n)
    35.88(a)
      189959  NM_064328.2  NP_496729.2 


    ENSEMBL Gene Tree for BCMO1 (if available)
    TreeFam Gene Tree for BCMO1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BCMO1 gene
    BCO22  RPE652  
    3 SIMAP similar genes for BCMO1 using alignment to 4 protein entries:     BCDO1_HUMAN (see all proteins):
    BCO2    RPE65    BCDO2

    BCMO1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1600 SNPs in BCMO1 are shown (see all 1600)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1194780571,2,4
    C,FHypercarotenemia and vitamin A deficiency, autosomal dominant (ADHVAD)4 pathogenic182304856(+) GGCAAC/TGTCAC 2 T M mis12Minor allele frequency- T:0.00NA EU 5873
    rs1400613421,2
    C--81274441(+) TTTTT-/TGAGAA 1 -- int10--------
    rs1113335291,2
    C,F--81278518(+) GACACG/AGAGTT 1 -- int11Minor allele frequency- A:0.00CSA 1
    rs1133738921,2
    C,F--81278526(+) GTTTCA/GCTCTT 1 -- int11Minor allele frequency- G:0.00CSA 1
    rs1122961271,2
    C,F--81278684(+) TAGAGA/GTGGGA 1 -- int11Minor allele frequency- G:0.00CSA 1
    rs711437011,2
    C--81279455(-) CAGAGA/-AAAAA 1 -- int11Minor allele frequency- -:0.00NA 2
    rs747465881,2
    C,F--81279865(+) ACATTG/AAATCC 1 -- int12Minor allele frequency- A:0.06WA NA 238
    rs1134817911,2
    C,F--81282474(+) TAGCCA/GGATGT 1 -- int11Minor allele frequency- G:0.00CSA 1
    rs560691351,2
    C--81285480(+) TGTGT-/GTGT/GTGTGT/TGT
    G
    /TGTGTGTGTGTGTGTG
    ATATA
    2 -- int1 cds11NA 2
    rs713915421,2
    C--81287901(+) TTTTTT/-TTTTG 1 -- int11Minor allele frequency- -:0.50NA 2

    HapMap Linkage Disequilibrium report for BCMO1 (81272053 - 81324747 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for BCMO1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2714778CNV Deletion23290073
    esv274566CNV Insertion20981092
    nsv103709CNV Loss16902084
    nsv527288CNV Gain19592680
    nsv457573CNV Gain19166990
    esv2751615CNV Gain17911159
    esv9222OTHER Inversion19470904


    Human Gene Mutation Database (HGMD): BCMO1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing BCMO1
    DNA2.0 Custom Variant and Variant Library Synthesis for BCMO1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605748   
    OMIM disorders: 115300  
    UniProtKB/Swiss-Prot: BCDO1_HUMAN, Q9HAY6
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 6 diseases for BCMO1:    About MalaCards
    hypercarotenemia and vitamin a deficiency, autosomal dominant    endemic typhus    carotid artery occlusion    blepharospasm
    typhus    retinitis

    1 disease from the University of Copenhagen DISEASES database for BCMO1:
    Carotid artery occlusion

    BCMO1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): BCMO1
    Human Genome Epidemiology (HuGE) Navigator: BCMO1 (5 documents)

    Export disorders for BCMO1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for BCMO1 gene, integrated from 9 sources (see all 29):
    (articles sorted by number of sources associating them with BCMO1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Two common single nucleotide polymorphisms in the gene encoding beta-carotene 15,15'-monoxygenase alter beta-carotene metabolism in female volunteers. (PubMed id 19103647)1, 4, 9 Leung W.C....Lietz G. (2009)
    2. Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study. (PubMed id 19185284)1, 4, 9 Ferrucci L....Frayling T.M. (2009)
    3. Cloning and characterization of a human beta,beta-carotene-15,15- prime dioxygenase that is highly expressed in the retinal pigment epithelium. (PubMed id 11401432)1, 2, 9 Yan W.... Zack D.J. (2001)
    4. Circulating beta-carotene levels and type 2 diabetes- cause or effect? (PubMed id 19662379)1, 4, 9 Perry J.R....Frayling T.M. (2009)
    5. Fine mapping and association studies of a high-densit y lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian su bjects. (PubMed id 19844255)1, 4 Dastani Z....Genest J. (2010)
    6. A genome-wide association study identifies protein quantitative trait loci (pQTLs). (PubMed id 18464913)1, 4 Melzer D....Ferrucci L. (2008)
    7. Loss-of-function mutation in carotenoid 15,15'-monooxygenase identified in a patient with hypercarotenemia and hypovitaminosis A. (PubMed id 17951468)1, 2 Lindqvist A.... Andersson S. (2007)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    10. Cloning and expression of beta,beta-carotene 15,15'-dioxygenase. (PubMed id 10799297)1, 3 Wyss A....Hunziker W. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 53630 HGNC: 13815 AceView: BCMO1 Ensembl:ENSG00000135697 euGenes: HUgn53630
    ECgene: BCMO1 Kegg: 53630 H-InvDB: BCMO1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for BCMO1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for BCMO1 gene:
    Search GeneIP for patents involving BCMO1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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