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GABPB1 Gene

protein-coding   GIFtS: 58
GCID: GC15M050569

GA Binding Protein Transcription Factor, Beta Subunit 1

(Previous names: GA binding protein transcription factor, beta subunit 2)
(Previous symbol: GABPB2)
  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
GA Binding Protein Transcription Factor, Beta Subunit 11 2     NRF2B12 5
GABPB21 2 3     GA Binding Protein Transcription Factor, Beta Subunit 21
E4TF1B2 3 5     E4TF12
GABPB2 3 5     E4TF1-472
Nuclear Respiratory Factor 22 3     E4TF1-532
Transcription Factor E4TF1-472 3     NRF2B22
Transcription Factor E4TF1-532 3     GA Binding Protein Transcription Factor Beta Subunit 1 Transcript Variant
Gamma-22
GABPB-12 3     GA-Binding Protein Subunit Beta-12
GABP Subunit Beta-22 3     GABPB-23
BABPB22 5     GABP Subunit Beta-13

External Ids:    HGNC: 40741   Entrez Gene: 25532   Ensembl: ENSG000001040647   OMIM: 6006105   UniProtKB: Q065473   

Export aliases for GABPB1 gene to outside databases

Previous GC identifers: GC15M046126 GC15M043615 GC15M048358 GC15M027400


(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 GABPB1 Gene:
This gene encodes the GA-binding protein transcription factor, beta subunit. This protein forms a tetrameric
complex with the alpha subunit, and stimulates transcription of target genes. The encoded protein may be involved
in activation of cytochrome oxidase expression and nuclear control of mitochondrial function. The crystal
structure of a similar protein in mouse has been resolved as a ternary protein complex. Multiple transcript
variants encoding distinct isoforms have been identified for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for GABPB1 Gene:
GABPB1 (GA binding protein transcription factor, beta subunit 1) is a protein-coding gene. Diseases associated with GABPB1 include adenylosuccinate lyase deficiency, and herpes simplex. GO annotations related to this gene include transcription regulatory region DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is ANKRD2.

UniProtKB/Swiss-Prot: GABP1_HUMAN, Q06547
Function: Transcription factor capable of interacting with purine rich repeats (GA repeats). Necessary for the
expression of the Adenovirus E4 gene

Gene Wiki entry for GABPB1 (GABPB2) 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:
NC_000015.10  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GABPB1 gene promoter:
         AhR   Tal-1   MEF-2   RREB-1   Lmo2   c-Ets-1   E47   MEF-2A   FOXC1   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGABPB1 promoter sequence
   Search Chromatin IP Primers for GABPB1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GABPB1


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

Entrez Gene cytogenetic band: 15q21.2   Ensembl cytogenetic band:  15q21.2   HGNC cytogenetic band: 15q21.2

GABPB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GABPB1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M050569:  view genomic region     (about GC identifiers)

Start:
50,569,389 bp from pter      End:
50,647,605 bp from pter
Size:
78,217 bases      Orientation:
minus 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: GABP1_HUMAN, Q06547 (See protein sequence)
Recommended Name: GA-binding protein subunit beta-1  
Size: 395 amino acids; 42483 Da
Subunit: Heterotetramer of two alpha and two beta subunits. Interacts with HCFC1, causing repression of
transcriptional activity
Secondary accessions: A8IE52 Q06545 Q12940 Q12941 Q12942 Q8IYD0
Alternative splicing: 4 isoforms:  Q06547-1   Q06547-2   Q06547-3   Q06547-4   

Explore the universe of human proteins at neXtProt for GABPB1: NX_Q06547

Explore proteomics data for GABPB1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See GABPB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_002032.2  NP_005245.2  NP_057738.1  NP_057739.1  NP_852092.1  

    ENSEMBL proteins: 
     ENSP00000370259   ENSP00000220429   ENSP00000442500   ENSP00000453806   ENSP00000395771  
     ENSP00000379728   ENSP00000453463   ENSP00000453578   ENSP00000454211   ENSP00000351923  
    Reactome Protein details: Q06547

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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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    HGNC Gene Families:
    ANKRD: Ankyrin repeat domain containing

    2 InterPro protein domains:
     IPR002110 Ankyrin_rpt
     IPR020683 Ankyrin_rpt-contain_dom

    Graphical View of Domain Structure for InterPro Entry Q06547

    ProtoNet protein and cluster: Q06547

    1 Blocks protein domain: IPB002110 Ankyrin repeat signature

    UniProtKB/Swiss-Prot: GABP1_HUMAN, Q06547
    Similarity: Contains 5 ANK repeats


    GABPB1 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: GABP1_HUMAN, Q06547
    Function: Transcription factor capable of interacting with purine rich repeats (GA repeats). Necessary for the
    expression of the Adenovirus E4 gene

         Genatlas biochemistry entry for GABPB1:
    GA binding protein,beta subunit 1,component of the nuclear respiratory factor 1,interacting with GABPA to form a
    high affinity DNA-binding complex recognizing an important site for herpes simplex virus type I
    activation,putatively involved in the activation of nuclear genes specifying mitochondrial function

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700sequence-specific DNA binding transcription factor activity TAS8441384
    GO:0005515protein binding IPI10675337
    GO:0044212transcription regulatory region DNA binding IDA9857059
    GO:0046982protein heterodimerization activity IDA9857059
         
    GABPB1 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for GABPB1:
     Increased S DNA content  Increased gamma-H2AX phosphory  S arrest  Synthetic lethal with Ras 

         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Gabpb1):
     behavior/neurological  immune system  mortality/aging  muscle  nervous system 

    GABPB1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for GABPB1: Gabpb1tm1Hhx Gabpb1tm2Hhx

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GABPB1
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GABPB1

    miRNA
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    miRTarBase miRNAs that target GABPB1:
    hsa-mir-215-5p (MIRT024412)

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    Selected qRT-PCR Assays for microRNAs that regulate GABPB1 (see all 38):
    hsa-miR-3607-3p hsa-miR-4328 hsa-miR-106a hsa-miR-374a* hsa-miR-93 hsa-miR-526b* hsa-miR-3163 hsa-miR-20a
    SwitchGear 3'UTR luciferase reporter plasmidGABPB1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat GABPB1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GABPB1


    (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
    GABP1_HUMAN, Q06547: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    cytoskeleton2
    mitochondrion2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA9857059

    GABPB1 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 GABPB1 About    
    See pathways by source

    SuperPathContained pathways About
    1Myometrial Relaxation and Contraction Pathways
    Myometrial Relaxation and Contraction Pathways0.43

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for GABPB1
        Myometrial Relaxation and Contraction Pathways

    1 Reactome Pathway for GABPB1
        Transcriptional activation of mitochondrial biogenesis



    GABPB1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GABPB1
    Interactions:

        Search GeneGlobe Interaction Network for GABPB1

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

    Selected Interacting proteins for GABPB1 (Q065471, 2, 3 ENSP000003702594) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CICQ96RK02, 3, ENSP000001607404MINT-2859081 I2D: score=3 STRING: ENSP00000160740
    HCFC1P516101, 3, ENSP000003095554EBI-618189,EBI-396176 I2D: score=3 STRING: ENSP00000309555
    BAI2O602412, 3, ENSP000003627624MINT-75010 I2D: score=2 STRING: ENSP00000362762
    MAGEB18Q96M611, 3, ENSP000003145434EBI-618165,EBI-741835 I2D: score=3 STRING: ENSP00000314543
    FANCGO152873, ENSP000003679104I2D: score=4 STRING: ENSP00000367910
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006357regulation of transcription from RNA polymerase II promoter TAS8441384
    GO:0045944positive regulation of transcription from RNA polymerase II promoter IDA9857059

    GABPB1 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 GABPB1 (GABP1)



    (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 GABPB1 gene (5 alternative transcripts): 
    NM_002041.4  NM_005254.5  NM_016654.4  NM_016655.4  NM_181427.3  

    Unigene Cluster for GABPB1:

    GA binding protein transcription factor, beta subunit 1
    Hs.654350  [show with all ESTs]
    Unigene Representative Sequence: NM_005254
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000380877(uc001zya.3 uc001zyb.3 uc010ufg.2) ENST00000220429
    ENST00000543881 ENST00000561010 ENST00000429662 ENST00000396464 ENST00000560825
    ENST00000559100 ENST00000558335 ENST00000558970 ENST00000359031(uc001zyc.3 uc001zyd.3 uc001zye.3 uc001zyf.3)

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate GABPB1 (see all 38):
    hsa-miR-3607-3p hsa-miR-4328 hsa-miR-106a hsa-miR-374a* hsa-miR-93 hsa-miR-526b* hsa-miR-3163 hsa-miR-20a
    SwitchGear 3'UTR luciferase reporter plasmidGABPB1 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 5): GABPB1 (NM_016655)
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      QuantiTect SYBR Green Assays in human, mouse, rat GABPB1
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    Additional mRNA sequence: 

    AK301350.1 AK303901.1 BC016910.1 BC036080.1 BC050702.1 BT006652.1 D13316.1 D13317.1 
    EU159454.1 JQ313901.1 U13045.1 U13046.1 U13047.1 U13048.1 

    13 DOTS entries:

    DT.97823854  DT.100688291  DT.100796128  DT.95271555  DT.100796127  DT.453073  DT.121078254  DT.121078274 
    DT.121078225  DT.121078283  DT.121078268  DT.121078313  DT.446655 

    Selected AceView cDNA sequences (see all 196):

    NM_016655 AA136871 U13048 BT006652 AU131804 CA416618 AA599554 BX487411 
    BM469386 BQ050762 NM_005254 AA913022 W38337 U13045 BC036080 BQ186620 
    AI468623 AI803474 BU733511 AI475518 BC016910 BQ430343 AA665626 AW003076 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GABPB1 (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10
    SP1:                    -                                   -                       -     -         
    SP2:                    -                                                           -     -         
    SP3:                    -                                   -                                       
    SP4:                    -                                                                           
    SP5:                                                        -                                       


    ECgene alternative splicing isoforms for GABPB1

    (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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    GABPB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    GABPB1 Expression
    About this image


    GABPB1 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
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    GABPB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GABPB1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654350
        Custom PCR Arrays for GABPB1
    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat GABPB1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GABPB1

    (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.

    Orthologs for GABPB1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gabpb11 , 5 GA repeat binding protein, beta 11, 5 91.62(n)1
    98.17(a)1
      2 (61.76 cM)5
    143911  NM_001271467.11  NP_001258396.11 
     1266274425 
    chicken
    (Gallus gallus)
    Aves GABPB11 GA binding protein transcription factor, beta subunit more 85.55(n)
    97.65(a)
      415453  NM_001012622.1  NP_001012640.1 
    lizard
    (Anolis carolinensis)
    Reptilia GABPB16
    GA binding protein transcription factor, beta subu...
    97(a)
    1 ↔ 1
    GL343747.1(46603-58913)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC046663.12   -- 80.84(n)    BC046663.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gabpb11 GA binding protein transcription factor, beta subunit more 66.47(n)
    74.64(a)
      768285  NM_001077450.1  NP_001070918.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Atac36
    ATAC complex component 3
    19(a)
    1 → many
    3L(324985-327992)


    ENSEMBL Gene Tree for GABPB1 (if available)
    TreeFam Gene Tree for GABPB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GABPB1 gene
    ANKRD22  ANKRD232  GABPB22  ANKRD12  ANKRD62  
    Selected SIMAP similar genes for GABPB1 using alignment to 5 protein entries:     GABP1_HUMAN (see all proteins) (see all similar genes):
    GABPB2    ANK1    ANKRD28    IkBa    ANK3    ANKRD12
    FPGT-TNNI3K    NOTCH3    ANKRD42    ANK2    ANKRD6    EHMT1
    GPR75-ASB3    MTMR8    ANKHD1    ANKRD29    ANKRD61    ANKRD65

    GABPB1 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 GABPB1 (see all 1528)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0356134
    A colorectal cancer sample4--see VAR_0356132 P A mis40--------
    rs589177961,2
    C,F--27399896(+) ACCACAT/-GTCAG 2 -- ds50012Minor allele frequency- -:0.50NA CSA 4
    rs113063611,2
    C,F--27402612(+) TGATTA/-AATTA 2 -- int15Minor allele frequency- -:0.40NA CSA 10
    rs2005713931,2
    C--27402613(+) TGATTA/TAATTA 2 -- int10--------
    rs113520591,2
    C--27412508(+) AAATTA/-AAAAA 5 -- int1 trp31Minor allele frequency- -:0.00NA 2
    rs343303391,2
    C--27412508(+) AAATT-/AAAAAA 5 -- int11Minor allele frequency- A:0.50NA 2
    rs1137713921,2
    C--27415916(+) GTATA-/TGTG/ 
    TGTGTGTG
    TGTGT
    5 -- int11CSA 2
    rs39858301,2
    C--27415940(+) TGTGT-/GT/GTGT
    /GTGTGTGT
    ACATG
    5 -- int10--------
    rs1410350471,2
    C--27416206(+) AACCA-/CTCTCTA 5 -- int10--------
    rs2012070851,2
    --27416211(+) CTCTC-/TACTAAA 5 -- int10--------

    HapMap Linkage Disequilibrium report for GABPB1 (50569389 - 50647605 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for GABPB1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2087264CNV Deletion18987734
    esv2749680CNV Deletion23290073
    esv2749679CNV Deletion23290073
    esv275353CNV Loss21479260
    nsv819649CNV Loss19587683

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GABPB1
    DNA2.0 Custom Variant and Variant Library Synthesis for GABPB1

    (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: 600610    OMIM disorders: --

    14 diseases for GABPB1:    
    About MalaCards
    adenylosuccinate lyase deficiency    herpes simplex    retinoblastoma    breast and colorectal cancer
    multiple sclerosis    tonsillitis    ataxia    retinitis
    colorectal cancer    thyroiditis    cerebritis    endotheliitis
    prostatitis    neuronitis


    GABPB1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): GABPB1
    Human Genome Epidemiology (HuGE) Navigator: GABPB1 (3 documents)

    Export disorders for GABPB1 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 GABPB1 gene, integrated from 10 sources (see all 64):
    (articles sorted by number of sources associating them with GABPB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Interaction between SNPs in the NRF2 gene and elite endurance performance. (PubMed id 20028934)1, 4, 9 Eynon N....Meckel Y. (Physiol. Genomics 2010)
    2. Four structurally distinct, non-DNA-binding subunits of human nuclear respiratory factor 2 share a conserved transcriptional activation domain. (PubMed id 7799916)1, 2, 9 Gugneja S.... Scarpulla R.C. (Mol. Cell. Biol. 1995)
    3. The novel coactivator C1 (HCF) coordinates multiprotein enhancer formation and mediates transcription activation by GABP. (PubMed id 10675337)1, 2 Vogel J.L. and Kristie T.M. (EMBO J. 2000)
    4. Nuclear respiratory factors 1 and 2 utilize similar glutamine- containing clusters of hydrophobic residues to activate transcription. (PubMed id 8816484)1, 2 Gugneja S.... Scarpulla R.C. (Mol. Cell. Biol. 1996)
    5. Molecular and genetic characterization of GABP beta. (PubMed id 7958862)1, 3 de la Brousse F.C....McKnight S.L. (amp 1994)
    6. cDNA cloning of transcription factor E4TF1 subunits with Ets and notch motifs. (PubMed id 8441384)1, 2 Watanabe H.... Handa H. (Mol. Cell. Biol. 1993)
    7. Identity of GABP with NRF-2, a multisubunit activator of cytochrome oxidase expression, reveals a cellular role for an ETS domain activator of viral promoters. (PubMed id 8383622)1, 2 Virbasius J.V.... Scarpulla R.C. (Genes Dev. 1993)
    8. Nuclear Respiratory Factor 2I^ (NRF-2I^) recruits NRF-2I+ to the nucleus by binding to importin-I+:I^ via an unusual monopartite-type nuclear localization signal. (PubMed id 23856623)1 Hayashi R....Ueda T. (J. Mol. Biol. 2013)
    9. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    10. The Ets transcription factor GABP is a component of the hippo pathway essential for growth and antioxidant defense. (PubMed id 23684612)1 Wu H....Zhou D. (Cell Rep 2013)

    (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: 2553 HGNC: 4074 AceView: GABPB2 Ensembl:ENSG00000104064 euGenes: HUgn2553
    ECgene: GABPB1 H-InvDB: GABPB1

    (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 GABPB1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GABPB1 gene:
    Search GeneIP for patents involving GABPB1

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



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