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Aliases for GAB1 Gene

Aliases for GAB1 Gene

  • GRB2-Associated Binding Protein 1 2 3
  • Growth Factor Receptor Bound Protein 2-Associated Protein 1 4
  • GRB2-Associated Binder 1 4

External Ids for GAB1 Gene

Summaries for GAB1 Gene

Entrez Gene Summary for GAB1 Gene

  • 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]

GeneCards Summary for GAB1 Gene

GAB1 (GRB2-Associated Binding Protein 1) is a Protein Coding gene. Diseases associated with GAB1 include leopard syndrome. Among its related pathways are PI-3K cascade and PI-3K cascade. GO annotations related to this gene include phospholipid binding and SH3/SH2 adaptor activity. An important paralog of this gene is GAB2.

UniProtKB/Swiss-Prot for GAB1 Gene

  • Adapter protein that plays a role in intracellular signaling cascades triggered by activated receptor-type kinases. Plays a role in FGFR1 signaling. Probably involved in signaling by the epidermal growth factor receptor (EGFR) and the insulin receptor (INSR)

Gene Wiki entry for GAB1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GAB1 Gene

Genomics for GAB1 Gene

Genomic Location for GAB1 Gene

Start:
143,336,527 bp from pter
End:
143,474,568 bp from pter
Size:
138,042 bases
Orientation:
Plus strand

Genomic View for GAB1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GAB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GAB1 Gene

Regulatory Elements for GAB1 Gene

Proteins for GAB1 Gene

  • Protein details for GAB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13480-GAB1_HUMAN
    Recommended name:
    GRB2-associated-binding protein 1
    Protein Accession:
    Q13480
    Secondary Accessions:
    • A8K152
    • Q4W5G2
    • Q6P1W2

    Protein attributes for GAB1 Gene

    Size:
    694 amino acids
    Molecular mass:
    76616 Da
    Quaternary structure:
    • Interacts with GRB2 and with other SH2-containing proteins. Interacts with phosphorylated LAT2. Interacts with PTPRJ. Identified in a complex containing FRS2, GRB2, GAB1, PIK3R1 and SOS1. Interacts (phosphorylated) with PTPN11. Interacts with HCK.

    Alternative splice isoforms for GAB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GAB1 Gene

Proteomics data for GAB1 Gene at MOPED

Post-translational modifications for GAB1 Gene

  • Phosphorylated in response to FGFR1 activation. Phosphorylated on tyrosine residue(s) by the epidermal growth factor receptor (EGFR) and the insulin receptor (INSR). Tyrosine phosphorylation of GAB1 mediates interaction with several proteins that contain SH2 domains. Phosphorylated on tyrosine residues by HCK upon IL6 signaling.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GAB1 Gene

No data available for DME Specific Peptides for GAB1 Gene

Domains for GAB1 Gene

Gene Families for GAB1 Gene

HGNC:
  • PLEKH :Pleckstrin homology (PH) domain containing

Protein Domains for GAB1 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

GAB1_HUMAN
Domain:
  • Contains 1 PH domain.:
    • Q13480
Family:
  • Belongs to the GAB family.:
    • Q13480
genes like me logo Genes that share domains with GAB1: view

Function for GAB1 Gene

Molecular function for GAB1 Gene

UniProtKB/Swiss-Prot Function: Adapter protein that plays a role in intracellular signaling cascades triggered by activated receptor-type kinases. Plays a role in FGFR1 signaling. Probably involved in signaling by the epidermal growth factor receptor (EGFR) and the insulin receptor (INSR)

Gene Ontology (GO) - Molecular Function for GAB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004871 signal transducer activity IEA --
GO:0005070 SH3/SH2 adaptor activity TAS 8596638
GO:0005515 protein binding IPI 10978177
genes like me logo Genes that share ontologies with GAB1: view
genes like me logo Genes that share phenotypes with GAB1: view

Animal Models for GAB1 Gene

MGI Knock Outs for GAB1:

miRNA for GAB1 Gene

miRTarBase miRNAs that target GAB1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for GAB1 Gene

Localization for GAB1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GAB1 Gene COMPARTMENTS Subcellular localization image for GAB1 gene
Compartment Confidence
cytosol 4
nucleus 1

Gene Ontology (GO) - Cellular Components for GAB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with GAB1: view

Pathways for GAB1 Gene

SuperPathways for GAB1 Gene

Superpath Contained pathways
1 Signaling by FGFR
2 PI-3K cascade
3 Insulin receptor signalling cascade
4 Development HGF signaling pathway
5 Development FGFR signaling pathway
genes like me logo Genes that share pathways with GAB1: view

Gene Ontology (GO) - Biological Process for GAB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000187 activation of MAPK activity --
GO:0006979 response to oxidative stress IEA --
GO:0007165 signal transduction --
GO:0007173 epidermal growth factor receptor signaling pathway TAS --
GO:0007257 activation of JUN kinase activity IEA --
genes like me logo Genes that share ontologies with GAB1: view

Compounds for GAB1 Gene

(16) Novoseek inferred chemical compound relationships for GAB1 Gene

Compound -log(P) Hits PubMed IDs
phosphatidylinositol 80.7 36
tyrosine 77.4 119
ly294002 62.2 4
phosphatidylinositol-3,4,5-trisphosphate 61.1 4
phosphoinositide 56.9 5
genes like me logo Genes that share compounds with GAB1: view

Transcripts for GAB1 Gene

mRNA/cDNA for GAB1 Gene

(6) REFSEQ mRNAs :
(2) Selected AceView cDNA sequences:
(14) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for GAB1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b
SP1: - - -
SP2: - - - -
SP3:

Relevant External Links for GAB1 Gene

GeneLoc Exon Structure for
GAB1
ECgene alternative splicing isoforms for
GAB1

Expression for GAB1 Gene

mRNA expression in normal human tissues for GAB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for GAB1 Gene

SOURCE GeneReport for Unigene cluster for GAB1 Gene Hs.80720

genes like me logo Genes that share expressions with GAB1: view

Orthologs for GAB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GAB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GAB1 36
  • 99.63 (n)
  • 99.45 (a)
GAB1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GAB1 36
  • 91.31 (n)
  • 95.53 (a)
GAB1 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GAB1 36
  • 92.15 (n)
  • 94.43 (a)
GAB1 37
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gab1 36
  • 84.34 (n)
  • 90.35 (a)
Gab1 16
Gab1 37
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GAB1 37
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GAB1 37
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gab1 36
  • 82.85 (n)
  • 89.05 (a)
chicken
(Gallus gallus)
Aves GAB1 36
  • 83.19 (n)
  • 88.75 (a)
GAB1 37
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GAB1 37
  • 80 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.7533 36
tropical clawed frog
(Silurana tropicalis)
Amphibia gab1 36
  • 75.38 (n)
  • 79.15 (a)
Str.956 36
zebrafish
(Danio rerio)
Actinopterygii Dr.17509 36
gab1 36
  • 66.67 (n)
  • 71 (a)
gab1 37
  • 62 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta dos 37
  • 14 (a)
OneToMany
Species with no ortholog for GAB1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GAB1 Gene

ENSEMBL:
Gene Tree for GAB1 (if available)
TreeFam:
Gene Tree for GAB1 (if available)

Paralogs for GAB1 Gene

Paralogs for GAB1 Gene

Selected SIMAP similar genes for GAB1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with GAB1: view

Variants for GAB1 Gene

Sequence variations from dbSNP and Humsavar for GAB1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs186189 -- 143,355,064(-) TCGAA(C/G)AAAAT intron-variant
rs300892 -- 143,335,998(-) GGCAC(C/T)GGGGC upstream-variant-2KB
rs300893 -- 143,335,963(-) CATTC(A/G)AATGT upstream-variant-2KB
rs300894 -- 143,334,845(-) TAAAG(A/G)GTCAA upstream-variant-2KB
rs300895 -- 143,334,685(-) CATCA(A/G)CTGAG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for GAB1 Gene

Variant ID Type Subtype PubMed ID
nsv437941 CNV Loss 16468122
dgv1681e1 CNV Complex 17122850
dgv1682e1 CNV Complex 17122850
dgv1683e1 CNV Complex 17122850
dgv1684e1 CNV Complex 17122850
esv2576302 CNV Deletion 19546169
nsv830103 CNV Loss 17160897

Relevant External Links for GAB1 Gene

HapMap Linkage Disequilibrium report
GAB1
Human Gene Mutation Database (HGMD)
GAB1

Disorders for GAB1 Gene

(1) MalaCards Diseases for GAB1 Gene

Search for GAB1 Gene in MalaCards »

(7) Novoseek inferred disease relationships for GAB1 Gene

Disease -log(P) Hits PubMed IDs
glioblastoma 17.1 3
sarcoma 4.55 1
breast cancer 4.07 2
breast carcinoma 0 1
necrosis 0 1

Relevant External Links for GAB1

Genetic Association Database (GAD)
GAB1
Human Genome Epidemiology (HuGE) Navigator
GAB1
genes like me logo Genes that share disorders with GAB1: view

No data available for UniProtKB/Swiss-Prot for GAB1 Gene

Publications for GAB1 Gene

  1. A Grb2-associated docking protein in EGF- and insulin-receptor signalling. (PMID: 8596638) Holgado-Madruga M. … Wong A.J. (Nature 1996) 2 3 4 23
  2. Critical role for hematopoietic cell kinase (Hck)-mediated phosphorylation of Gab1 and Gab2 docking proteins in interleukin 6- induced proliferation and survival of multiple myeloma cells. (PMID: 15010462) Podar K. … Anderson K.C. (J. Biol. Chem. 2004) 3 4 23
  3. Grb2-associated binder 1 polymorphism was associated with the risk of Helicobactor pylori infection and gastric atrophy. (PMID: 17211494) Goto Y. … Hamajima N. (Int J Med Sci 2007) 3 23 49
  4. Protein kinase C-betaII represses hepatocyte growth factor-induced invasion by preventing the association of adapter protein Gab1 and phosphatidylinositol 3-kinase in melanoma cells. (PMID: 17625596) Oka M. … Nishigori C. (J. Invest. Dermatol. 2008) 3 23
  5. Coupling of Grb2 to Gab1 mediates hepatocyte growth factor-induced high intensity ERK signal required for inhibition of HepG2 hepatoma cell proliferation. (PMID: 18003605) Kondo A. … Kitamura N. (J. Biol. Chem. 2008) 3 23

Products for GAB1 Gene

Sources for GAB1 Gene

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