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BBOX1 Gene

protein-coding   GIFtS: 60
GCID: GC11P027019

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


(Previous symbol: BBOX)
  See BBOX1-related disease
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
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NT_009237.19  NC_018922.2  
Regulatory elements:
   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 Chromatin IP Primers for BBOX1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: 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
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See BBOX1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003977.1  
    ENSEMBL proteins: 
     ENSP00000435781   ENSP00000435369   ENSP00000434918   ENSP00000433772   ENSP00000263182  
    Reactome Protein details: O75936

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR010376 DUF971
     IPR012775 2-oxoglut_dOase
     IPR003819 Taurine_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


    Find genes that share domains with BBOX1           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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 molecular function terms:    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:0016706oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors ----
         
    Find genes that share ontologies with BBOX1           About GenesLikeMe


    Animal Models:
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    (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 UniProtKB/Swiss-Prot
    BODG_HUMAN, O75936: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton4
    cytosol4
    mitochondrion2
    nucleus2
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005829cytosol TAS--
    GO:0015629actin cytoskeleton ----
    GO:0043231intracellular membrane-bounded organelle ----
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with BBOX1           About GenesLikeMe


    (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 BBOX1 About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    L-carnitine biosynthesis0.00
    Carnitine synthesis0.00
    2Metabolism
    Metabolism0.38
    3Lysine degradation
    Lysine degradation


    Find genes that share SuperPaths with BBOX1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for BBOX1
        L-carnitine biosynthesis


    1 Reactome Pathway for BBOX1
        Carnitine synthesis


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

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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including BBOX1: 

              Amino Acid Metabolism II in human mouse rat
              Huntington's Disease in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for BBOX1

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

    Selected Interacting proteins for BBOX1 (O759362, 3 ENSP000002631824) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPB3Q129882, 3MINT-64098 I2D: score=5 
    ALDH1B1ENSP000003669274STRING: ENSP00000366927
    ALDH2ENSP000002617334STRING: ENSP00000261733
    ALDH3A2ENSP000003457744STRING: ENSP00000345774
    ALDH9A1ENSP000003468274STRING: ENSP00000346827
    About this table

    Gene Ontology (GO): 4 biological process terms:    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 ----

    Find genes that share ontologies with BBOX1           About GenesLikeMe



    (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 BBOX1 (BODG)

    Selected 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)



    Find genes that share compounds with BBOX1           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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 

    Selected AceView cDNA sequences (see all 98):

    AI934912 AI470899 AI147527 CA311597 W72099 CB154082 BM983309 AI470904 
    AA694319 AI524816 Z41801 F05274 AI248514 BF592163 AI333212 AI023834 
    CR456812 AW779554 AV659520 F01527 BI667634 F10380 AI911566 F02079 

    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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    BBOX1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 7) fully expand
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 2 entries
             PureStem 4D20.8, NCr-fac Progenitor
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Kidney (Urinary System)
             Human kidney epithelial cell spheroids
     
     Hair (Integumentary System)
             Bulge Stem Cells Bulge
     
     Mesoderm (Gastrulation Derivatives)
             PureStem 7SMOO32, NCr-fac & Meso Progenitor
    BBOX1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BBOX1 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler 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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for BBOX1 gene from Selected 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 more1, 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 more 68.83(n)
    68.83(a)
      426932  XM_424543.3  XP_424543.2 
    lizard
    (Anolis carolinensis)
    Reptilia BBOX16
    butyrobetaine (gamma), 2-oxoglutarate dioxygenase ...
    59(a)
    1 ↔ 1
    GL343240.1(1059245-1120325)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.154062 Transcribed sequence with weak similarity to protein more 74.12(n)    BX703336.1 
    zebrafish
    (Danio rerio)
    Actinopterygii bbox11 butyrobetaine (gamma), 2-oxoglutarate dioxygenase 1 more 60.24(n)
    59.64(a)
      572649  NM_001017717.1  NP_001017717.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG53211 , 3 gamma-butyrobetaine,2-oxoglutarate
    dioxygenase3
    CG53211
    39(a)
    (best of 3)3
    46.08(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
    dioxygenase3
    gbh-11
    33(a)3
    46.19(n)1
    34.91(a)1
      II(10690323-10692543)3
    1746481  NM_063904.61  NP_496305.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes AIM176
    Putative protein of unknown function; the authenti...
    14(a)
    1 → many
    VIII(64462-65859) YHL021C


    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)
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    Paralogs for BBOX1 gene
    TMLHE2  
    1 SIMAP similar gene for BBOX1 using alignment to 4 protein entries:     BODG_HUMAN (see all proteins):
    TMLHE

    Find genes that share paralogs with BBOX1           About GenesLikeMe



    (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 BBOX1 (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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BBOX1
    DNA2.0 Custom Variant and Variant Library Synthesis for BBOX1

    (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.)
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    OMIM gene information: 603312    OMIM disorders: --

    1 disease for BBOX1:    
    About MalaCards
    mulibrey nanism

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

    Find genes that share disorders with BBOX1           About GenesLikeMe

    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)
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    PubMed articles for BBOX1 gene, integrated from 10 sources (see all 33):
    (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. (Biochem. Biophys. Res. Commun. 1998)
    2. Crystal structure of human gamma-butyrobetaine hydroxylase. (PubMed id 20599753)1, 2 Tars K.... Dambrova M. (Biochem. Biophys. Res. Commun. 2010)
    3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 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. (Mol. Med. 2010)
    5. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (Gut 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. (Genome Res. 2004)
    7. Ascorbic acid and carnitine biosynthesis. (PubMed id 1962562)1, 7 Rebouche C.J. (Am. J. Clin. Nutr. 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. (Biochim. Biophys. Acta 1999)
    9. Genomic structure, alternative maturation and tissue expression of the human BBOX1 gene. (PubMed id 17110165)1, 9 Rigault C.... Demarquoy J. (Biochim. Biophys. Acta 2006)
    10. Carnitine biosynthesis in hepatic peroxisomes. Demonstration of gamma-butyrobetaine hydroxylase activity. (PubMed id 1735445)1, 9 Paul H.S....Adibi S.A. (Eur. J. Biochem. 1992)

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

    (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)
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    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

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    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



    (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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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