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BCMO1 Gene

protein-coding   GIFtS: 58
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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000016.10  NC_018927.2  NT_010498.16  
Regulatory elements:
   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 Chromatin IP Primers for BCMO1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for BCMO1 (Q9HAY6) (see all 9)
     YNHWFDG  PSYYHSFG  PFLLILDAK  LDAKSFTEL 


    See BCMO1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_059125.2  
    ENSEMBL proteins: 
     ENSP00000258168   ENSP00000457910   ENSP00000455219   ENSP00000400586  
    Reactome Protein details: Q9HAY6

    BCMO1 Human Recombinant Protein Products:

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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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/body  homeostasis/metabolism  liver/biliary system 

    BCMO1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BCMO1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for BCMO1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BCMO1
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    miRNA
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    4 qRT-PCR Assays for microRNAs that regulate BCMO1:
    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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    Predesigned siRNA for gene silencing in human, mouse, rat BCMO1

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    GenScript: all cDNA clones in your preferred vector: BCMO1 (NM_017429)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BCMO1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BCMO1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BCMO1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus2
    cytoskeleton1

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    BCMO1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for BCMO1 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Diseases associated with visual transduction
    Visual phototransduction0.44
    Diseases associated with visual transduction0.43
    Retinoid metabolism and transport0.44
    2Signaling by GPCR
    Signal Transduction0.58
    3Metabolism
    Metabolic pathways0.38
    4Chemical carcinogenesis
    Retinol metabolism0.35
    5Vitamin A and carotenoid metabolism
    Vitamin A and carotenoid metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for BCMO1
        Retinol metabolism

    1 BioSystems Pathway for BCMO1
        Vitamin A and carotenoid metabolism

    1 Reactome Pathway for BCMO1
        Retinoid metabolism and transport


    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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for BCMO1
    Interactions:

        Search GeneGlobe Interaction Network for BCMO1

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

    Selected 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
    ADH1BENSP000003066064STRING: ENSP00000306606
    ADH4ENSP000002655124STRING: ENSP00000265512
    ADH5ENSP000002964124STRING: ENSP00000296412
    About this table

    Gene Ontology (GO): 5 biological process terms:    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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)



    BCMO1 for compounds           About GeneDecksing



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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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    4 qRT-PCR Assays for microRNAs that regulate BCMO1:
    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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    GenScript: all cDNA clones in your preferred vector: BCMO1 (NM_017429)
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      QuantiTect SYBR Green Assays in human, mouse, rat BCMO1
      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:

    BM717431 BE326832 AK001592 AF294900 BC022269 AA364587 NM_017429 AW470865 
    BM715422 BM674791 AI950094 BM682396 BG616909 AA317342 BM717865 AU130712 
    AI916142 BM683637 AI673642 BM929698 BX091843 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    BCMO1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 5) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
             Floor plate-like cells
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)
             Oviduct
     
     Neural Ectoderm (Nervous System)
             Neural ectoderm cells
     
     Eye (Sensory Organs)
             Lens
    BCMO1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BCMO1 Protein Expression

    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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for BCMO1 gene from Selected species (see all 18)    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 70.45(n)
    70.77(a)
      395346  NM_204635.1  NP_989966.1 
    lizard
    (Anolis carolinensis)
    Reptilia BCMO16
    beta-carotene 15,15'-monooxygenase 1
    69(a)
    1 ↔ 1
    LGc(5809537-5835833)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia bcmo11 beta-carotene 15,15'-monooxygenase 1 66.47(n)
    68.8(a)
      100486582  XM_002938140.2  XP_002938186.1 
    zebrafish
    (Danio rerio)
    Actinopterygii bcdo12 beta-carotene 15, 15'-dioxygenase 72.74(n)   84039  BC049331.1 
    worm
    (Caenorhabditis elegans)
    Secernentea bcmo-11 bcmo-1 47.27(n)
    36.23(a)
      189959  NM_064328.2  NP_496729.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CCD81 CCD8 45.31(n)
    33.48(a)
      829417  NM_119434.3  NP_195007.2 
    rice
    (Oryza sativa)
    Liliopsida Os01g07464001 Os01g0746400 46.93(n)
    31.36(a)
      4326177  NM_001050764.2  NP_001044229.2 


    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)
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    Paralogs for BCMO1 gene
    BCO22  ENSG000002727902  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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for BCMO1 (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
    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    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

  • 10 diseases for BCMO1:    
    About MalaCards
    hypercarotenemia and vitamin a deficiency, autosomal dominant    endemic typhus    carotid artery occlusion    blepharospasm
    typhus    retinitis    multiple myeloma    thyroiditis
    myeloma    cerebritis

    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

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    PubMed articles for BCMO1 gene, integrated from 10 sources (see all 35):
    (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. (FASEB J. 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. (Am. J. Hum. Genet. 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. (Genomics 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. (Diabetologia 2009)
    5. Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects. (PubMed id 19844255)1, 4 Dastani Z....Genest J. (Eur. J. Hum. Genet. 2010)
    6. A genome-wide association study identifies protein quantitative trait loci (pQTLs). (PubMed id 18464913)1, 4 Melzer D....Ferrucci L. (PLoS Genet. 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. (J. Nutr. 2007)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. 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. (Genome Res. 2004)
    10. Cloning and expression of beta,beta-carotene 15,15'-dioxygenase. (PubMed id 10799297)1, 3 Wyss A....Hunziker W. (Biochem. Biophys. Res. Commun. 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 53630 HGNC: 13815 AceView: BCMO1 Ensembl:ENSG00000135697 euGenes: HUgn53630
    ECgene: BCMO1 Kegg: 53630 H-InvDB: BCMO1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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

    TryGeneCards Plus
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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