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

BBOX1 Gene

protein-coding   GIFtS: 59
GCID: GC11P027019

butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine...


(Previous symbol: BBOX)
 Explore 6 diseases affiliated with
BBOX1 via
MalaCards
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 Human Malady Compendium 
Biological research products
for BBOX1    

Aliases
for BBOX1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
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
BBH1 2 3     EC 1.14.11.13
G-BBH1 2     Gamma-BBH3
Gamma-BBH3     Gamma-Butyrobetaine,2-Oxoglutarate Dioxygenase3
Gamma-Butyrobetaine Hydroxylase2 3     

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


Summaries
for BBOX1 gene

(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:
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)

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

Gene Wiki entry for BBOX1 (Gamma-butyrobetaine dioxygenase)


Genomic Views
for BBOX1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_009237.18  
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 plasmid: BBOX1 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

Proteins
for BBOX1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O75936

    • BBOX1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_003977.1  
    ENSEMBL proteins: 
     ENSP00000435781   ENSP00000435369   ENSP00000434918   ENSP00000433772   ENSP00000263182  
    Reactome Protein details: O75936
    Human Recombinant Protein Products: 
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    Browse Proteins at Uscn

    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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    Protein Domains /
    Families
    for BBOX1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    BBOX1 for domains           About GeneDecksing

    3 InterPro domains/families:
     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


    Function
    for BBOX1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

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    Inhib. RNA
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    LifeMap BioReagents: cell lines associated with BBOX1: PureStem 4D20.8, NCr-fac Progenitor,
    PureStem 7SMOO32, NCr-fac & Meso Progenitor

    In Situ Assay
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    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:0016702oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen IEA--


    BBOX1 for ontologies           About GeneDecksing



    Pathways & Interactions
    for BBOX1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1L-carnitine biosynthesis
    		L-carnitine biosynthesis1.00
    		Carnitine synthesis0.75
    2Metabolism of amino acids and derivatives
    		Metabolism of amino acids and derivatives1.00
    3Lysine degradation
    		Lysine degradation1.00
    4Metabolism
    		Metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    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): 3 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--


    BBOX1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for BBOX1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BBOX1

    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 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 

    Transcripts
    for BBOX1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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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    Inhib. RNA
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    Clone
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    Additional cDNA 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):

    AI934912 CB154082 AA694319 AI470899 BM983309 CA311597 Z41801 W72099 
    AI147527 F05274 BF592163 AI470904 AI524816 AI248514 BC011034 AI911566 
    AV659477 AA977526 AF082868 NM_003986 AA455988 AI333212 AA948672 BI667634 

    GeneLoc Exon Structure


    Expression
    for BBOX1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAACTTCTCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    BBOX1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyGlomerulusKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 7 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)Lateral Plate Mesoderm, Neural Crest
    PureStem™ progenitor T42 (Embryonic Progenitor Cell)
    PureStem™ progenitor SM22 (Embryonic Progenitor Cell)
    PureStem™ progenitor T36 (Embryonic Progenitor Cell)
    Cardiomyocyte-like cells (Spontaneous differen...)
    Human kidney epithelial cell spheroids (Kidney spheroids for...)

    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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    In Situ
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    Orthologs
    for BBOX1 gene

    (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 BBOX1 gene from 6/21 species (see all 21)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 68(a)
    		 1 ↔ 1
    		 GL343240.1(1067810-1115946)
    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 


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

    Paralogs
    for BBOX1 gene

    (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



    Genomic Variants
    for BBOX1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1498 NCBI SNPs in BBOX1 are shown (see all 1498)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 11 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1114070761,2
    		--27060619(+) GTATTG/AAAGAG 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1847791571,2
    		--27060691(+) TCTCAC/TCTCAA 1 -- us2k10--------
    rs1891839581,2
    		--27060714(+) ATAATC/TCCCAC 1 -- us2k10--------
    rs79367891,2
    		C,F,A,H,--27060819(+) TGATGG/CTTTTA 1 -- us2k112Minor allele frequency- C:0.33NA WA CSA EA 375
    rs1429414001,2
    		--27060846(+) CATTCA/CTTTGC 1 -- us2k10--------
    rs79396441,2
    		C,F,A,H,--27060940(+) CAGACG/ATGCAG 1 -- us2k123Minor allele frequency- A:0.32NS EA NA WA CSA 2351
    rs1510576531,2
    		--27061054(+) ACAACC/TGTTAT 1 -- us2k10--------
    rs1410165401,2
    		--27061060(+) GTTATA/GGAAAA 1 -- us2k10--------
    rs1497608121,2
    		--27061089(+) GAAAAC/TTGAAA 1 -- us2k10--------
    rs110297951,2
    		C,F,A,H,--27061217(+) GGAGAG/ACAGAG 1 -- us2k128Minor allele frequency- A:0.35NS EA NA WA CSA 2883

    HapMap Linkage Disequilibrium report for BBOX1 (27062272 - 27149356 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for BBOX1: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BBOX1
    DNA2.0 Custom Variant and Variant Library Synthesis for BBOX1

    Disorders / Diseases
    for BBOX1 gene

    (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
    BBOX1 for disorders           About GeneDecksing

    OMIM gene information: 603312    OMIM disorders: --

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

    1 disease from the University of Copenhagen DISEASES database for BBOX1:
    Mulibrey nanism
    Human Genome Epidemiology (HuGE) Navigator: BBOX1 (3 documents)

    Export disorders for BBOX1 gene to outside databases

    Publications
    for BBOX1 gene

    (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 31):
    (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. 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)
    4. Ascorbic acid and carnitine biosynthesis. (PubMed id 1962562)1, 7 Rebouche C.J. (1991)
    5. Molecular cloning and characterization of the cDNA encoding the rat liver gamma-butyrobetaine hydroxylase. (PubMed id 10526231)1, 9 Galland S....Demarquoy J. (1999)
    6. Genomic structure, alternative maturation and tissue expression of the human BBOX1 gene. (PubMed id 17110165)1, 9 Rigault C.... Demarquoy J. (2006)
    7. Carnitine biosynthesis in hepatic peroxisomes. Demonstration of gamma-butyrobetaine hydroxylase activity. (PubMed id 1735445)1, 9 Paul H.S....Adibi S.A. (1992)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    9. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
    10. Coeliac disease associated risk variants in TNFAIP3 and REL implicate altered NF-{kappa}B signalling. (PubMed id 19240061)1 Trynka G....Wijmenga C. (2009)

    External Searches for BBOX1 gene

    (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)

    Genome Databases showing BBOX1 gene

    (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

    Other Databases showing BBOX1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing BBOX1 gene

    (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

    Intellectual Property
    for BBOX1 gene

    (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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    About This Section

     
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