Human Gene GAB1 (uc003ijd.3)
  Description: Homo sapiens GRB2-associated binding protein 1 (GAB1), transcript variant 1, mRNA.
RefSeq Summary (NM_207123): The protein encoded by this gene is a member of the IRS1-like multisubstrate docking protein family. It is an important mediator of branching tubulogenesis and plays a central role in cellular growth response, transformation and apoptosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008].
Transcript (Including UTRs)
   Position: hg19 chr4:144,257,983-144,395,718 Size: 137,736 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg19 chr4:144,258,342-144,390,342 Size: 132,001 Coding Exon Count: 11 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:144,257,983-144,395,718)mRNA (may differ from genome)Protein (724 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIOMIMPubMedReactomeTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): GAB1
CDC HuGE Published Literature: GAB1
Positive Disease Associations: Asthma , gastric atrophy H. pylori infection , Potassium
Related Studies:
  1. Asthma
    Tomomitsu Hirota et al. Nature genetics 2011, Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population., Nature genetics. [PubMed 21804548]
  2. gastric atrophy H. pylori infection
    Goto, Y. et al. 2006, Grb2-associated binder 1 polymorphism was associated with the risk of Helicobactor pylori infection and gastric atrophy, Int J Med Sci 2006 4(1) 1-6. [PubMed 17211494]
    This study represents that the Gab1 polymorphism was associated with the low risk of H.
  3. Potassium
    , , . [PubMed 0]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: GAB1
Diseases sorted by gene-association score: leopard syndrome (8), noonan syndrome 1 (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D013749 Tetrachlorodibenzodioxin
  • C006780 bisphenol A
  • C028474 1,4-bis(2-(3,5-dichloropyridyloxy))benzene
  • D015632 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine
  • C014024 2,4,5,2',4',5'-hexachlorobiphenyl
  • C023514 2,6-dinitrotoluene
  • C548651 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester
  • C049584 2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine
  • D000082 Acetaminophen
  • D000393 Air Pollutants
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.64 RPKM in Nerve - Tibial
Total median expression: 244.15 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -189.90359-0.529 Picture PostScript Text
3' UTR -1314.335376-0.244 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF00169 - PH domain

SCOP Domains:
50729 - PH domain-like

ModBase Predicted Comparative 3D Structure on Q13480-2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Descriptions from all associated GenBank mRNAs
  AK289767 - Homo sapiens cDNA FLJ75581 complete cds, highly similar to Homo sapiens GRB2-associated binding protein 1 (GAB1), transcript variant 2, mRNA.
BC064848 - Homo sapiens GRB2-associated binding protein 1, mRNA (cDNA clone MGC:75491 IMAGE:30386955), complete cds.
U43885 - Human Grb2-associated binder-1 mRNA, complete cds.
AK314635 - Homo sapiens cDNA, FLJ95478.
AB527823 - Synthetic construct DNA, clone: pF1KB5718, Homo sapiens GAB1 gene for GRB2-associated binding protein 1, without stop codon, in Flexi system.
CU687958 - Synthetic construct Homo sapiens gateway clone IMAGE:100022843 5' read GAB1 mRNA.
KJ891211 - Synthetic construct Homo sapiens clone ccsbBroadEn_00605 GAB1 gene, encodes complete protein.
AK295684 - Homo sapiens cDNA FLJ53999 complete cds, highly similar to GRB2-associated-binding protein 1.
AK022142 - Homo sapiens cDNA FLJ12080 fis, clone HEMBB1002477, highly similar to Human Grb2-associated binder-1 mRNA.
JD331354 - Sequence 312378 from Patent EP1572962.
BC030115 - Homo sapiens cDNA clone IMAGE:4801326.
AL049449 - Homo sapiens mRNA; cDNA DKFZp586B1722 (from clone DKFZp586B1722).

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04012 - ErbB signaling pathway
hsa04722 - Neurotrophin signaling pathway
hsa05100 - Bacterial invasion of epithelial cells
hsa05211 - Renal cell carcinoma

Reactome (by CSHL, EBI, and GO)

Protein Q13480 (Reactome details) participates in the following event(s):

R-HSA-177920 Binding of GRB2 to GAB1
R-HSA-8851908 Activated MET binds GAB1
R-HSA-8851919 Activated MET binds GAB1 and GRB2
R-HSA-177931 Binding of PIK3 regulatory alpha subunit to GRB2:GAB1
R-HSA-179467 GAB1 binds phosphatidylinositol-3,4,5-trisphosphate
R-HSA-1306963 Binding of GRB2:GAB1 to p-ERBB2:p-EGFR
R-HSA-1226016 Binding of GRB2:GAB1:PIK3R1 complex to ligand-responsive p-6Y-EGFR mutants
R-HSA-5637764 Binding of GRB2:GAB1:PIK3R1 complex to p-EGFRvIII mutant
R-HSA-5654592 Activated FGFR1:p-FRS2 binds GRB2:GAB1:PIK3R1
R-HSA-5654594 Activated FGFR1:p-FRS2:p-PPTN11 binds GRB2:GAB1:PI3KR1
R-HSA-5654612 Activated FGFR2:p-FRS2 binds GRB2:GAB1:PIK3R1
R-HSA-5654620 Activated FGFR2:p-FRS2:p-PPTN11 binds GRB2:GAB1:PI3KR1
R-HSA-5654637 Activated FGFR3:p-FRS2 binds GRB2:GAB1:PIK3R1
R-HSA-5654641 Activated FGFR3:p-FRS2:p-PPTN11 binds GRB2:GAB1:PI3KR1
R-HSA-5654659 Activated FGFR4:p-FRS2 binds GRB2:GAB1:PIK3R1
R-HSA-5654667 Activated FGFR4:p-FRS2:p-PPTN11 binds GRB2:GAB1:PI3KR1
R-HSA-5655240 Activated FGFR1 mutants:p-FRS2 binds GRB2:GAB1:PIK3R1
R-HSA-5655248 Activated FGFR4 mutants:p-FRS2 binds GRB2:GAB1:PIK3R1
R-HSA-5655315 Activated FGFR3 mutants:p-FRS2 binds GRB2:GAB1:PIK3R1
R-HSA-5655320 Activated FGFR2 mutants:p-FRS2 binds GRB2:GAB1:PIK3R1
R-HSA-8853316 Activated FGFR3 fusions:p-FRS2 binds GRB2:GAB1:PIK3R1
R-HSA-1306965 Binding of PI3K to GRB2:GAB1 in complex with phosphorylated heterodimer of ERBB2 and EGFR.
R-HSA-177941 GRB2:GAB1 binds to phosphorylated EGFR
R-HSA-8851933 MET phosphorylates GAB1
R-HSA-8851954 Phosphorylated GAB1 recruits PI3K to MET
R-HSA-8865994 GAB1 binds PTPN11
R-HSA-8875540 GAB1 recruits CRK,CRKL to MET
R-HSA-8855508 p-5Y-GAB in RET-GRB2-GAB complexes binds PTPN11
R-HSA-1226012 Binding of PI3K p110 subunit alpha (PIK3CA) to complex of GRB2:GAB1:PIK3R1 and ligand-responsive p-6Y-EGFR mutants
R-HSA-5637765 Binding of PI3K p110 subunit alpha (PIK3CA) to complex of GRB2:GAB1:PIK3R1 and p-EGFRvIII
R-HSA-5654596 Activated FGFR1:p-FRS2:p-PPTN11:GRB2:GAB1:PIK3R1 binds PIK3CA
R-HSA-5654591 Activated FGFR1:p-FRS2:GRB2:GAB1:PI3KR1 binds PIK3CA
R-HSA-5654614 Activated FGFR2:p-FRS2:GRB2:GAB1:PI3KR1 binds PIK3CA
R-HSA-5654662 Activated FGFR4:p-FRS2:GRB2:GAB1:PI3KR1 binds PIK3CA
R-HSA-5654622 Activated FGFR2:p-FRS2:p-PPTN11:GRB2:GAB1:PIK3R1 binds PIK3CA
R-HSA-5654643 Activated FGFR3:p-FRS2:p-PPTN11:GRB2:GAB1:PIK3R1 binds PIK3CA
R-HSA-5654640 Activated FGFR3:p-FRS2:GRB2:GAB1:PI3KR1 binds PIK3CA
R-HSA-5654669 Activated FGFR4:p-FRS2:p-PPTN11:GRB2:GAB1:PIK3R1binds PIK3CA
R-HSA-5655263 Activated FGFR1 mutants:p-FRS2:GRB2:GAB1:PIK3R1 binds PIK3CA
R-HSA-5655285 Activated FGFR3 mutants:p-FRS2:GRB2:GAB1:PIK3R1 binds PIK3CA
R-HSA-5655245 Activated FGFR2 mutants:p-FRS2:GRB2:GAB1:PIK3R1 binds PIK3CA
R-HSA-5655252 Activated FGFR4 mutants:p-FRS2:GRB2:GAB1:PIK3R1 binds PIK3CA
R-HSA-8853308 Activated FGFR3 fusions:p-FRS2:GRB2:GAB1:PIK3R1 binds PIK3CA
R-HSA-177930 GAB1 phosphorylation by EGFR kinase
R-HSA-177927 PI3K binds to EGF:EGFR:GRB2:GAB1
R-HSA-177944 Activation of SHP2 through the binding to phospho-Gab1
R-HSA-177935 SHP2 dephosphorylates Tyr 992 on EGFR
R-HSA-8875558 RAPGEF1 binds CRK,CRKL
R-HSA-177924 Dephosphorylation of Gab1 by SHP2
R-HSA-109699 PI3K-containing complexes phosphorylate PIP2 to PIP3
R-HSA-8852019 MET bound PI3K generates PIP3
R-HSA-1226014 Conversion of PIP2 to PIP3 by PI3K bound to ligand-responsive p-6Y-EGFR mutants
R-HSA-5637801 Conversion of PIP2 to PIP3 by PI3K bound to phosphorylated EGFRvIII
R-HSA-5654692 FGFR1- and PTPN11- associated PI3K phosphorylates PIP2 to PIP3
R-HSA-5654690 FGFR1-associated PI3K phosphorylates PIP2 to PIP3
R-HSA-5654701 FGFR2-associated PI3K phosphorylates PIP2 to PIP3
R-HSA-5654717 FGFR4-associated PI3K phosphorylates PIP2 to PIP3
R-HSA-5654697 FGFR2- and PTPN11- associated PI3K phosphorylates PIP2 to PIP3
R-HSA-5654709 FGFR3- and PTPN11-associated PI3K phosphorylates PIP2 to PIP3
R-HSA-5654705 FGFR3-associated PI3K phosphorylates PIP2 to PIP3
R-HSA-5654714 FGFR4- and PTPN11-associated PI3K phosphorylates PIP2 to PIP3
R-HSA-5655290 Activated FGFR1 mutant-associated PI3K phosphorylates PIP2 to PIP3
R-HSA-5655289 Activated FGFR3 mutant-associated PI3K phosphorylates PIP2 to PIP3
R-HSA-5655323 Activated FGFR2 mutant-associated PI3K phosphorylates PIP2 to PIP3
R-HSA-5655235 Activated FGFR4 mutant-associated PI3K phosphorylates PIP2 to PIP3
R-HSA-8853323 Activated FGFR3 fusion-associated PI3K phosphorylates PIP2 to PIP3
R-HSA-1306957 PIP2 to PIP3 conversion by PI3K bound to GRB2:GAB1 in complex with phosphorylated heterodimer of ERBB2 and EGFR
R-HSA-177939 PI3K converts phosphatidylinositol-4,5-bisphosphate (PIP2) to phosphatidylinositol-3,4,5-trisphosphate (PIP3)
R-HSA-177923 Sustained activation of SRC kinase by SHP2
R-HSA-177926 Dephosphorylation of PAG by SHP2
R-HSA-2400009 PI3K inhibitors block PI3K catalytic activity
R-HSA-2316434 PI3K phosphorylates PIP2 to PIP3
R-HSA-8875568 RAPGEF1 activates RAP1
R-HSA-180292 GAB1 signalosome
R-HSA-8851907 MET activates PI3K/AKT signaling
R-HSA-5654689 PI-3K cascade:FGFR1
R-HSA-5654695 PI-3K cascade:FGFR2
R-HSA-5654710 PI-3K cascade:FGFR3
R-HSA-5654720 PI-3K cascade:FGFR4
R-HSA-1963642 PI3K events in ERBB2 signaling
R-HSA-9028335 Activated NTRK2 signals through PI3K
R-HSA-8853659 RET signaling
R-HSA-177929 Signaling by EGFR
R-HSA-6806834 Signaling by MET
R-HSA-1236382 Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
R-HSA-5637810 Constitutive Signaling by EGFRvIII
R-HSA-5655302 Signaling by FGFR1 in disease
R-HSA-5655291 Signaling by FGFR4 in disease
R-HSA-8853338 Signaling by FGFR3 point mutants in cancer
R-HSA-5655253 Signaling by FGFR2 in disease
R-HSA-8853334 Signaling by FGFR3 fusions in cancer
R-HSA-5654687 Downstream signaling of activated FGFR1
R-HSA-5654696 Downstream signaling of activated FGFR2
R-HSA-5654708 Downstream signaling of activated FGFR3
R-HSA-5654716 Downstream signaling of activated FGFR4
R-HSA-1227986 Signaling by ERBB2
R-HSA-9006115 Signaling by NTRK2 (TRKB)
R-HSA-422475 Axon guidance
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-8865999 MET activates PTPN11
R-HSA-8875555 MET activates RAP1 and RAC1
R-HSA-5637815 Signaling by Ligand-Responsive EGFR Variants in Cancer
R-HSA-5637812 Signaling by EGFRvIII in Cancer
R-HSA-1226099 Signaling by FGFR in disease
R-HSA-5655332 Signaling by FGFR3 in disease
R-HSA-5654736 Signaling by FGFR1
R-HSA-5654738 Signaling by FGFR2
R-HSA-5654741 Signaling by FGFR3
R-HSA-5654743 Signaling by FGFR4
R-HSA-166520 Signaling by NTRKs
R-HSA-1266738 Developmental Biology
R-HSA-162582 Signal Transduction
R-HSA-8875656 MET receptor recycling
R-HSA-8875878 MET promotes cell motility
R-HSA-1643713 Signaling by EGFR in Cancer
R-HSA-5663202 Diseases of signal transduction
R-HSA-190236 Signaling by FGFR
R-HSA-109704 PI3K Cascade
R-HSA-1643685 Disease
R-HSA-112399 IRS-mediated signalling
R-HSA-2219530 Constitutive Signaling by Aberrant PI3K in Cancer
R-HSA-1257604 PIP3 activates AKT signaling
R-HSA-6811558 PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
R-HSA-74751 Insulin receptor signalling cascade
R-HSA-2428928 IRS-related events triggered by IGF1R
R-HSA-2219528 PI3K/AKT Signaling in Cancer
R-HSA-9006925 Intracellular signaling by second messengers
R-HSA-199418 Negative regulation of the PI3K/AKT network
R-HSA-74752 Signaling by Insulin receptor
R-HSA-2428924 IGF1R signaling cascade
R-HSA-2404192 Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)

-  Other Names for This Gene
  Alternate Gene Symbols: NM_207123, NP_997006, Q13480-2
UCSC ID: uc003ijd.3
RefSeq Accession: NM_207123
Protein: Q13480-2, splice isoform of Q13480 CCDS: CCDS3759.1, CCDS3760.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_207123.2
exon count: 11CDS single in 3' UTR: no RNA size: 7926
ORF size: 2175CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4550.00frame shift in genome: no % Coverage: 99.80
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.