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

BBOX1 Gene

protein-coding   GIFtS: 61
GCID: GC11P027019

Butyrobetaine (Gamma), 2-Oxoglutarate Dioxygenase (Gamma-Butyrobetaine...


(Previous symbol: BBOX)
  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
Butyrobetaine (Gamma), 2-Oxoglutarate Dioxygenase (Gamma-Butyrobetaine
Hydroxylase) 11 2
     Gamma-Butyrobetaine Dioxygenase2
BBOX1 2 3 5     Gamma-Butyrobetaine,2-Oxoglutarate Dioxygenase 12
Gamma-Butyrobetaine Hydroxylase2 3     EC 1.14.11.13
BBH2 3     Gamma-BBH3
G-BBH2     Gamma-Butyrobetaine,2-Oxoglutarate Dioxygenase3
gamma-BBH2     

External Ids:    HGNC: 9641   Entrez Gene: 84242   Ensembl: ENSG000001291517   OMIM: 6033125   UniProtKB: O759363   

Export aliases for BBOX1 gene to outside databases

Previous GC identifers: GC11P028411 GC11P027838 GC11P027102 GC11P027027 GC11P026759


(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 BBOX1 Gene:
This gene encodes gamma butyrobetaine hydroxylase which catalyzes the formation of L-carnitine from
gamma-butyrobetaine, the last step in the L-carnitine biosynthetic pathway. Carnitine is essential for the
transport of activated fatty acids across the mitochondrial membrane during mitochondrial beta-oxidation.
(provided by RefSeq, Jul 2008)

GeneCards Summary for BBOX1 Gene: 
BBOX1 (butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1) is a protein-coding gene. Diseases associated with BBOX1 include mulibrey nanism, and hypospadias, and among its related super-pathways are Carnitine synthesis and Metabolic pathways. GO annotations related to this gene include gamma-butyrobetaine dioxygenase activity and iron ion binding. An important paralog of this gene is TMLHE.

UniProtKB/Swiss-Prot: BODG_HUMAN, O75936
Function: Catalyzes the formation of L-carnitine from gamma-butyrobetaine

Gene Wiki entry for BBOX1 (Gamma-butyrobetaine dioxygenase) Gene


(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_000011.9  NT_009237.18  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BBOX1 gene promoter:
         HOXA3   Bach2   Cdc5   E4BP4   MEF-2A   IRF-2   FOXO1a   aMEF-2   MRF-2   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBBOX1 promoter sequence
   Search SABiosciences Chromatin IP Primers for BBOX1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BBOX1


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

Entrez Gene cytogenetic band: 11p14.2   Ensembl cytogenetic band:  11p14.2   HGNC cytogenetic band: 11p

BBOX1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BBOX1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P027019:  view genomic region     (about GC identifiers)

Start:
27,062,272 bp from pter      End:
27,149,356 bp from pter
Size:
87,085 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: BODG_HUMAN, O75936 (See protein sequence)
Recommended Name: Gamma-butyrobetaine dioxygenase  
Size: 387 amino acids; 44715 Da
Cofactor: Binds 1 Fe(2+) ion per subunit (Probable)
Cofactor: Ascorbate
Subcellular location: Cytoplasm
3 PDB 3D structures from and Proteopedia for BBOX1:
3MS5 (3D)        3N6W (3D)        3O2G (3D)    
Secondary accessions: B2R8L7 D3DQZ1 Q6IBJ2

Explore the universe of human proteins at neXtProt for BBOX1: NX_O75936

Explore proteomics data for BBOX1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O75936

  • BBOX1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BBOX1 Protein Expression
    REFSEQ proteins: NP_003977.1  
    ENSEMBL proteins: 
     ENSP00000435781   ENSP00000435369   ENSP00000434918   ENSP00000433772   ENSP00000263182  
    Reactome Protein details: O75936
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    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005829cytosol TAS--
    GO:0015629actin cytoskeleton IDA--
    GO:0043231intracellular membrane-bounded organelle IDA--

    BBOX1 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
    3 InterPro protein domains:
     IPR010376 DUF971
     IPR003819 Taurine_dOase
     IPR012775 2-oxoglut_dOase

    Graphical View of Domain Structure for InterPro Entry O75936

    ProtoNet protein and cluster: O75936

    UniProtKB/Swiss-Prot: BODG_HUMAN, O75936
    Similarity: Belongs to the gamma-BBH/TMLD family


    BBOX1 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: BODG_HUMAN, O75936
    Function: Catalyzes the formation of L-carnitine from gamma-butyrobetaine
    Catalytic activity: 4-trimethylammoniobutanoate + 2-oxoglutarate + O(2) = 3-hydroxy-4-trimethylammoniobutanoate +
    succinate + CO(2)

         Enzyme Number (IUBMB): EC 1.14.11.11

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005506iron ion binding IEA--
    GO:0008270zinc ion binding IDA--
    GO:0008336gamma-butyrobetaine dioxygenase activity TAS--
    GO:0016491oxidoreductase activity ----
    GO:0016702oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ----
         
    BBOX1 for ontologies           About GeneDecksing


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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BBOX1


    (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 BBOX1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1L-carnitine biosynthesis
    L-carnitine biosynthesis0.75
    Carnitine synthesis0.75
    2Metabolism
    Metabolism0.40
    3Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    4Lysine degradation
    Lysine degradation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for BBOX1
        L-carnitine biosynthesis


    3        Reactome Pathways for BBOX1
        Carnitine synthesis
    Metabolism
    Metabolism of amino acids and derivatives


    1         Kegg Pathway  (Kegg details for BBOX1):
        Lysine degradation

    UniProtKB/Swiss-Prot: BODG_HUMAN, O75936
    Pathway: Amine and polyamine biosynthesis; carnitine biosynthesis


    BBOX1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BBOX1

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

    5/6 Interacting proteins for BBOX1 (O759362, 3 ENSP000002631824) via UniProtKB, MINT, STRING, and/or I2D (see all 6)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPB3Q129882, 3MINT-64098 I2D: score=5 
    ALDH9A1ENSP000003468274STRING: ENSP00000346827
    ALDH1B1ENSP000003669274STRING: ENSP00000366927
    ALDH2ENSP000002617334STRING: ENSP00000261733
    ALDH3A2ENSP000003457744STRING: ENSP00000345774
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0034641cellular nitrogen compound metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--
    GO:0045329carnitine biosynthetic process TAS--
    GO:0055114oxidation-reduction process ----

    BBOX1 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

    BBOX1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for BBOX1 (BODG)

    10/14 HMDB Compounds for BBOX1 (see all 14)    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-Dehydroxycarnitine ----
    4-Trimethylammoniobutanoic acid4-(N-Trimethylamino)butyrate (see all 8)407-64-7--
    Ascorbic acid(+)-ascorbate (see all 140)50-81-7--
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    IronArmco iron (see all 19)7439-89-6--
    L-Carnitine(-)-(R)-3-Hydroxy-4-(trimethylammonio)butyrate (see all 33)541-15-1--
    N1-AcetylspermineN'-Acetylspermine (see all 6)25593-72-0--
    NorspermidineN-(3-aminopropyl)-1,3-Propanediamine (see all 28)56-18-8--
    Oxoglutaric acid2-Ketoglutarate (see all 9)328-50-7--
    OxygenOxygen (see all 5)7782-44-7--

    2 DrugBank Compounds for BBOX1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Vitamin CAscorbate (see all 6)50-81-7target--10709635 17139284 6432788 17016423 1962562
    Succinic acid1,2-Ethanedicarboxylic acid (see all 8)110-15-6target--17139284 17016423 10820142

    6 Novoseek inferred chemical compound relationships for BBOX1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gamma-butyrobetaine 98 25 9753662 (4), 1735445 (3), 10526231 (2), 17110165 (2) (see all 11)
    carnitine 80.9 13 9753662 (2), 19523885 (1), 1735445 (1), 15979102 (1) (see all 8)
    alpha-ketoglutarate 56.6 4 1988434 (2), 9753662 (1)
    fatty acid 40.5 1 17110165 (1)
    lysine 32.8 3 10526231 (1), 8504802 (1)
    oxygen 0 1 9753662 (1)

    Search CenterWatch for drugs/clinical trials and news about BBOX1 / BODG

    (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 BBOX1 gene: 
    NM_003986.2  

    Unigene Cluster for BBOX1:

    Butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1
    Hs.591996  [show with all ESTs]
    Unigene Representative Sequence: NM_003986
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000529202 ENST00000533566 ENST00000531832 ENST00000528583(uc001mrg.1)
    ENST00000525090(uc021qfd.1) ENST00000527505 ENST00000534323 ENST00000263182(uc001mre.1 uc009yih.1)

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    Additional mRNA sequence: 

    AF082868.1 AK290108.1 AK313422.1 BC011034.1 CR456812.1 DQ471856.1 DQ471857.1 DQ471858.1 
    DQ471859.1 DQ471860.1 DQ471861.1 DQ471862.1 DQ471863.1 DQ471864.1 DQ471865.1 DQ471866.1 
    DQ471867.1 DQ471868.1 DQ471869.1 DQ471870.1 

    6 DOTS entries:

    DT.314268  DT.92424035  DT.442253  DT.86846838  DT.92424039  DT.70103258 

    24/98 AceView cDNA sequences (see all 98):

    F05274 AI470899 AA694319 AI524816 BF592163 AI147527 AI470904 W72099 
    AI248514 CA311597 CB154082 Z41801 AI934912 BM983309 F10380 AI953343 
    W77917 AI522126 BG573256 AA349652 AW195682 CB985702 BE552452 AV659520 

    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

    BBOX1 expression in normal human tissues (normalized intensities)      BBOX1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAACTTCTCT
    BBOX1 Expression
    About this image


    BBOX1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/10 selected tissues (see all 10) fully expand
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Human kidney epithelial cell spheroids
             kidney ; cells in tubules   
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 2 entries
             PureStem 4D20.8, NCr-fac Progenitor
     
     Mesoderm (Gastrulation Derivatives)
             PureStem 7SMOO32, NCr-fac & Meso Progenitor
     
     Lung (Respiratory System)
             Human Bronchial Epithelial Cells (HBEpiC)   
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule

    See BBOX1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BBOX1

    SOURCE GeneReport for Unigene cluster: Hs.591996

    UniProtKB/Swiss-Prot: BODG_HUMAN, O75936
    Tissue specificity: Highly expressed in kidney; moderately expressed in liver; very low expression in brain

        SABiosciences Expression via Pathway-Focused PCR Arrays including BBOX1: 
              Amino Acid Metabolism II in human mouse rat
              Huntington's Disease in human mouse rat

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    (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 and fungi.

    Orthologs for BBOX1 gene from 8/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bbox11 , 5 butyrobetaine (gamma), 2-oxoglutarate dioxygenase 1 (gamma-butyrobetaine hydroxylase) less1, 5 86.3(n)1
    89.15(a)1
      2 (56.70 cM)5
    1704421  NM_130452.11  NP_569719.11 
     1102626975 
    chicken
    (Gallus gallus)
    Aves BBOX11 butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 less 68.74(n)
    68.83(a)
      426932  XM_424543.2  XP_424543.2 
    lizard
    (Anolis carolinensis)
    Reptilia BBOX16
    butyrobetaine (gamma), 2-oxoglutarate dioxygenase ...
    60(a)
    1 ↔ 1
    GL343240.1(1059245-1120325)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.154062 Transcribed sequence with weak similarity to protein refNP_003977.1 (H.sapiens) gamma-butyrobetaine hydroxylase; gamma-butyrobetaine,2-oxoglutarate dioxygenase 1 [Homo sapiens] less 74.12(n)    BX703336.1 
    zebrafish
    (Danio rerio)
    Actinopterygii bbox11 butyrobetaine (gamma), 2-oxoglutarate dioxygenase 1 (gamma-butyrobetaine hydroxylase) less 60.24(n)
    59.64(a)
      572649  NM_001017717.1  NP_001017717.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG53211 , 3 gamma-butyrobetaine,2-oxoglutarate
    dioxygenase less3
    CG53211
    39(a)
    (best of 3)3
    46.27(n)1
    40.51(a)1
      12F23
    323991  NM_132739.21  NP_572967.21 
    worm
    (Caenorhabditis elegans)
    Secernentea gbh-11 , 3 gamma-butyrobetaine,2-oxoglutarate
    dioxygenase less3
    Protein GBH-11
    33(a)3
    46.41(n)1
    35.69(a)1
      II(10690323-10692543)3
    1746481  NM_063904.51  NP_496305.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes AIM176
    Putative protein of unknown function; the authenti...
    16(a)
    1 → many
    VIII(64462-65859)


    ENSEMBL Gene Tree for BBOX1 (if available)
    TreeFam Gene Tree for BBOX1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BBOX1 gene
    TMLHE2  
    1 SIMAP similar gene for BBOX1 using alignment to 4 protein entries:     BODG_HUMAN (see all proteins):
    TMLHE

    BBOX1 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

    10/1664 SNPs in BBOX1 are shown (see all 1664)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs357373891,2
    C--26783866(+) AGACAA/G/TAAAAA 1 -- int11NA 2
    rs1441188721,2
    --26847513(+) CCACTA/GCACTC 1 -- ds50010--------
    rs1114070761,2
    C,F--26989359(+) GTATTG/AAAGAG 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1847791571,2
    C--26989431(+) TCTCAC/TCTCAA 1 -- us2k10--------
    rs1891839581,2
    --26989454(+) ATAATC/TCCCAC 1 -- us2k10--------
    rs79367891,2
    C,F,A,H--26989559(+) tgatgG/Ctttta 1 -- us2k112Minor allele frequency- C:0.33NA WA CSA EA 375
    rs1429414001,2
    --26989586(+) CATTCA/CTTTGC 1 -- us2k10--------
    rs79396441,2
    C,F,A,H--26989680(+) cagacG/Atgcag 1 -- us2k123Minor allele frequency- A:0.32NS EA NA WA CSA 2351
    rs1510576531,2
    C--26989794(+) ACAACC/TGTTAT 1 -- us2k10--------
    rs1410165401,2
    C--26989800(+) GTTATA/GGAAAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for BBOX1 (27062272 - 27149356 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for BBOX1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv7720CNV Loss18451855
    nsv508619CNV Loss20534489
    nsv897147CNV Loss21882294
    nsv897148CNV Gain21882294

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    (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: 603312    OMIM disorders: --

    5 diseases for BBOX1:    About MalaCards
    mulibrey nanism    hypospadias    familial mediterranean fever    huntington's disease
    hepatitis

    1 disease from the University of Copenhagen DISEASES database for BBOX1:
    Mulibrey nanism

    BBOX1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): BBOX1
    Human Genome Epidemiology (HuGE) Navigator: BBOX1 (3 documents)

    Export disorders for BBOX1 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 BBOX1 gene, integrated from 9 sources (see all 32):
    (articles sorted by number of sources associating them with BBOX1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Carnitine biosynthesis: identification of the cDNA encoding human gamma-butyrobetaine hydroxylase. (PubMed id 9753662)1, 2, 3, 9 Vaz F.M.... Wanders R.J.A. (1998)
    2. Crystal structure of human gamma-butyrobetaine hydroxylase. (PubMed id 20599753)1, 2 Tars K.... Dambrova M. (2010)
    3. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    5. Coeliac disease associated risk variants in TNFAIP3 and REL implicate altered NF-{kappa}B signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (2009)
    6. 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)
    7. Ascorbic acid and carnitine biosynthesis. (PubMed id 1962562)1, 7 Rebouche C.J. (1991)
    8. Molecular cloning and characterization of the cDNA encoding the rat liver gamma-butyrobetaine hydroxylase. (PubMed id 10526231)1, 9 Galland S....Demarquoy J. (1999)
    9. Genomic structure, alternative maturation and tissue expression of the human BBOX1 gene. (PubMed id 17110165)1, 9 Rigault C.... Demarquoy J. (2006)
    10. Carnitine biosynthesis in hepatic peroxisomes. Demonstration of gamma-butyrobetaine hydroxylase activity. (PubMed id 1735445)1, 9 Paul H.S....Adibi S.A. (1992)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 8424 HGNC: 964 AceView: BBOX1 Ensembl:ENSG00000129151 euGenes: HUgn8424
    ECgene: BBOX1 Kegg: 8424 H-InvDB: BBOX1

    (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 BBOX1 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 BBOX1 gene:
    Search GeneIP for patents involving BBOX1

    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: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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