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Aliases for GAB1 Gene

Aliases for GAB1 Gene

  • GRB2 Associated Binding Protein 1 2 3 5
  • Growth Factor Receptor Bound Protein 2-Associated Protein 1 4
  • GRB2-Associated Binder 1 4

External Ids for GAB1 Gene

Previous GeneCards Identifiers for GAB1 Gene

  • GC04P145054
  • GC04P144619
  • GC04P144724
  • GC04P144835
  • GC04P144615
  • GC04P144477
  • GC04P144257
  • GC04P139987

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 and Noonan Syndrome 1. Among its related pathways are Development IGF-1 receptor signaling and RET signaling. GO annotations related to this gene include signal transducer activity 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GAB1 Gene

Genomics for GAB1 Gene

Regulatory Elements for GAB1 Gene

Enhancers for GAB1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G143404 1.3 Ensembl ENCODE dbSUPER 16.5 +69.2 69208 2.7 PKNOX1 TBL1XR1 NFIB WRNIP1 SIN3A RAD21 YY1 IKZF2 CBFB USF2 GAB1 RPSAP36 RPS2P20
GH04G143410 1.4 FANTOM5 Ensembl ENCODE dbSUPER 14.5 +75.1 75061 2.0 STAT1 JUN CEBPB ZNF623 JUND PRDM6 FOS PRDM10 ZXDB TRIM28 GAB1 RPSAP36 RPS2P20
GH04G143373 1.5 Ensembl ENCODE dbSUPER 12.1 +42.0 42044 10.6 FOXA2 PKNOX1 ARID4B SIN3A FEZF1 ZNF48 TCF12 ZNF143 JUNB TBX21 GAB1 USP38 RPS2P20 RPSAP36
GH04G143478 0.8 dbSUPER 16.9 +144.5 144489 5.0 CTCF NFIB ZNF384 RAD21 CTBP1 ZNF366 ZSCAN5C SMC3 FOSL2 FOS GAB1 USP38 LOC105377623 LOC101927636 ENSG00000250540 RPSAP36
GH04G143417 0.8 dbSUPER 15.2 +83.3 83283 7.1 TBP PKNOX1 TBL1XR1 BMI1 FOS RELB IKZF2 CREM GATAD2B TBX21 GAB1 LOC105377623 USP38 RPSAP36 RPS2P20
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GAB1 on UCSC Golden Path with GeneCards custom track

Promoters for GAB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000174125 238 3201 CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZNF143 ZNF263 SP3 SP5 REST

Genomic Location for GAB1 Gene

Chromosome:
4
Start:
143,336,762 bp from pter
End:
143,474,568 bp from pter
Size:
137,807 bases
Orientation:
Plus strand

Genomic View for GAB1 Gene

Genes around GAB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GAB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GAB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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.

    Three dimensional structures from OCA and Proteopedia for GAB1 Gene

    Alternative splice isoforms for GAB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GAB1 Gene

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

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for GAB1 (GAB1)

No data available for DME Specific Peptides for GAB1 Gene

Domains & Families for GAB1 Gene

Gene Families for GAB1 Gene

Protein Domains for GAB1 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q13480

UniProtKB/Swiss-Prot:

GAB1_HUMAN :
  • Belongs to the GAB family.
Family:
  • Belongs to the GAB family.
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 9658397
GO:0016303 1-phosphatidylinositol-3-kinase activity TAS --
GO:0046934 phosphatidylinositol-4,5-bisphosphate 3-kinase activity TAS --
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:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GAB1 Gene

Localization for GAB1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GAB1 gene
Compartment Confidence
cytosol 5
endoplasmic reticulum 2
plasma membrane 1
nucleus 1

Gene Ontology (GO) - Cellular Components for GAB1 Gene

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GAB1 Gene

Pathways & Interactions for GAB1 Gene

SuperPathway Contained pathways
1 RET signaling
2 Downstream signaling of activated FGFR2
3 Development HGF signaling pathway
4 GAB1 signalosome
5 Signaling by EGFR in Cancer
genes like me logo Genes that share pathways with GAB1: view

SIGNOR curated interactions for GAB1 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for GAB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006979 response to oxidative stress IEA --
GO:0007165 signal transduction IEA --
GO:0007173 epidermal growth factor receptor signaling pathway TAS --
GO:0007257 activation of JUN kinase activity IEA --
GO:0007411 axon guidance TAS --
genes like me logo Genes that share ontologies with GAB1: view

Drugs & Compounds for GAB1 Gene

(8) Drugs for GAB1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(8) Additional Compounds for GAB1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GAB1: view

Transcripts for GAB1 Gene

mRNA/cDNA for GAB1 Gene

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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for GAB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GAB1 Gene

This gene is overexpressed in Fetal Brain (14.1), Gallbladder (13.2), and Testis (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GAB1 Gene



Protein tissue co-expression partners for GAB1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GAB1 Gene:

GAB1

SOURCE GeneReport for Unigene cluster for GAB1 Gene:

Hs.80720

Evidence on tissue expression from TISSUES for GAB1 Gene

  • Nervous system(4.8)
  • Heart(2)
genes like me logo Genes that share expression patterns with GAB1: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GAB1 Gene

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 34 35
  • 99.63 (n)
dog
(Canis familiaris)
Mammalia GAB1 34 35
  • 92.15 (n)
cow
(Bos Taurus)
Mammalia GAB1 34 35
  • 91.31 (n)
oppossum
(Monodelphis domestica)
Mammalia GAB1 35
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GAB1 35
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gab1 34 16 35
  • 84.34 (n)
rat
(Rattus norvegicus)
Mammalia Gab1 34
  • 82.85 (n)
chicken
(Gallus gallus)
Aves GAB1 34 35
  • 83.19 (n)
lizard
(Anolis carolinensis)
Reptilia GAB1 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gab1 34
  • 75.38 (n)
Str.956 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.7533 34
zebrafish
(Danio rerio)
Actinopterygii gab1 34 35
  • 66.67 (n)
Dr.17509 34
fruit fly
(Drosophila melanogaster)
Insecta dos 35
  • 14 (a)
OneToMany
Species where no ortholog for GAB1 was found in the sources mined by GeneCards:
  • 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

(2) 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
VAR_036132 A breast cancer sample
VAR_036133 A breast cancer sample
rs1000075588 -- 143,337,548(+) CCTGC(C/T)GCATG intron-variant, upstream-variant-2KB
rs1000083913 -- 143,363,200(+) CTTGA(C/T)TTAAA intron-variant
rs1000093145 -- 143,474,764(+) TACCA(A/G)CTTCA downstream-variant-500B

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

Variant ID Type Subtype PubMed ID
dgv5411n100 CNV gain 25217958
esv2576302 CNV deletion 19546169
esv2759288 CNV gain+loss 17122850
esv3602506 CNV loss 21293372
esv3602508 CNV loss 21293372
nsv1018566 CNV loss 25217958
nsv1019980 CNV gain 25217958
nsv1026110 CNV gain 25217958
nsv1033902 CNV gain 25217958
nsv1123852 CNV deletion 24896259
nsv437941 CNV loss 16468122
nsv830103 CNV loss 17160897
nsv964100 CNV duplication 23825009
nsv980261 CNV duplication 23825009

Variation tolerance for GAB1 Gene

Residual Variation Intolerance Score: 21.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.01; 37.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GAB1 Gene

Human Gene Mutation Database (HGMD)
GAB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GAB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GAB1 Gene

Disorders for GAB1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for GAB1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
leopard syndrome
  • capute-rimoin-konigsmark-esterly-richardson syndrome
noonan syndrome 1
  • ns1
- elite association - COSMIC cancer census association via MalaCards
Search GAB1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for GAB1

Genetic Association Database (GAD)
GAB1
Human Genome Epidemiology (HuGE) Navigator
GAB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GAB1
genes like me logo Genes that share disorders with GAB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 22 64
  2. 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 22 46 64
  3. 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 22 64
  4. Hepatocyte growth factor receptor tyrosine kinase met is a substrate of the receptor protein-tyrosine phosphatase DEP-1. (PMID: 12475979) Palka H.L. … Tonks N.K. (J. Biol. Chem. 2003) 3 4 22 64
  5. Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population. (PMID: 21804548) Hirota T. … Tamari M. (Nat. Genet. 2011) 3 46 64

Products for GAB1 Gene

Sources for GAB1 Gene

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