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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 Bacterial invasion of epithelial cells and ErbB signaling pathway. 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 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around GAB1 on UCSC Golden Path with GeneCards custom track

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

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

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 :
  • Contains 1 PH domain.
  • Belongs to the GAB family.
Domain:
  • Contains 1 PH domain.
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).
genes like me logo Genes that share phenotypes with GAB1: view

Animal Models for GAB1 Gene

MGI Knock Outs for GAB1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets 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 5
endoplasmic reticulum 2
nucleus 1
plasma membrane 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for GAB1 Gene

Pathways & Interactions for GAB1 Gene

SuperPathways for GAB1 Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF signaling
2 PI3K events in ERBB4 signaling
3 Development HGF signaling pathway
4 Signaling by ERBB2
5 Immune System
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:0007165 signal transduction IEA --
GO:0007173 epidermal growth factor receptor signaling pathway TAS --
GO:0007257 activation of JUN kinase activity IEA --
GO:0007507 heart development IEA --
GO:0008286 insulin receptor signaling pathway TAS 8596638
genes like me logo Genes that share ontologies with GAB1: view

Drugs & Compounds for GAB1 Gene

(7) Drugs for GAB1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(9) 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

(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

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, MOPED, and MaxQB for GAB1 Gene



SOURCE GeneReport for Unigene cluster for GAB1 Gene Hs.80720

genes like me logo Genes that share expression patterns with GAB1: view

Protein tissue co-expression partners for GAB1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 36
  • 99 (a)
OneToOne
GAB1 35
  • 99.63 (n)
  • 99.45 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia GAB1 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gab1 36
  • 90 (a)
OneToOne
Gab1 16
Gab1 35
  • 84.34 (n)
  • 90.35 (a)
oppossum
(Monodelphis domestica)
Mammalia GAB1 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GAB1 36
  • 96 (a)
OneToOne
GAB1 35
  • 92.15 (n)
  • 94.43 (a)
cow
(Bos Taurus)
Mammalia GAB1 36
  • 96 (a)
OneToOne
GAB1 35
  • 91.31 (n)
  • 95.53 (a)
rat
(Rattus norvegicus)
Mammalia Gab1 35
  • 82.85 (n)
  • 89.05 (a)
chicken
(Gallus gallus)
Aves GAB1 36
  • 84 (a)
OneToOne
GAB1 35
  • 83.19 (n)
  • 88.75 (a)
lizard
(Anolis carolinensis)
Reptilia GAB1 36
  • 80 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.7533 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.956 35
gab1 35
  • 75.38 (n)
  • 79.15 (a)
zebrafish
(Danio rerio)
Actinopterygii gab1 36
  • 62 (a)
OneToOne
gab1 35
  • 66.67 (n)
  • 71 (a)
Dr.17509 35
fruit fly
(Drosophila melanogaster)
Insecta dos 36
  • 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

(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
rs28925904 - 143,438,337(+) TCCTC(C/T)AACAC reference, missense
VAR_036132 A breast cancer sample
VAR_036133 A breast cancer sample
rs2229879 - 143,438,535(+) CCCTA(C/T)AGCAG reference, missense
rs186189 -- 143,355,064(-) TCGAA(C/G)AAAAT intron-variant

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

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

HapMap Linkage Disequilibrium report
GAB1
Human Gene Mutation Database (HGMD)
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
  • noonan syndrome
- 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 23 67
  2. Differential phosphorylation of the docking protein Gab1 by c-Src and the hepatocyte growth factor receptor regulates different aspects of cell functions. (PMID: 19881549) Chan P.C. … Chen H.C. (Oncogene 2010) 3 23
  3. Non-redundant roles of the Gab1 and Gab2 scaffolding adapters in VEGF-mediated signalling, migration, and survival of endothelial cells. (PMID: 19233262) Caron C. … Royal I. (Cell. Signal. 2009) 3 23
  4. Gab1 transduces PI3K-mediated erythropoietin signals to the Erk pathway and regulates erythropoietin-dependent proliferation and survival of erythroid cells. (PMID: 19665053) Fukumoto T. … Tanaka T. (Cell. Signal. 2009) 3 23
  5. 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

Products for GAB1 Gene

Sources for GAB1 Gene

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