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] See more...

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 3 4
  • GRB2-Associated-Binding Protein 1 3 4
  • Deafness, Autosomal Recessive 26 2 3
  • GRB2-Associated Binder 1 3 4
  • Symbol Withdrawn, See GAB1 3
  • DFNB26 3

External Ids for GAB1 Gene

Previous HGNC Symbols for GAB1 Gene

  • DFNB26

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 Deafness, Autosomal Recessive 26 and Leopard Syndrome. Among its related pathways are PI3K/AKT activation and Development FGFR signaling pathway. Gene Ontology (GO) annotations related to this gene include obsolete signal transducer activity and SH3/SH2 adaptor activity. An important paralog of this gene is GAB2.

UniProtKB/Swiss-Prot Summary 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). Involved in the MET/HGF-signaling pathway (PubMed:29408807).

Gene Wiki entry for GAB1 Gene

Additional gene information for GAB1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GAB1 Gene

Genomics for GAB1 Gene

GeneHancer (GH) Regulatory Elements for GAB1 Gene

Promoters and enhancers for GAB1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J143335 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 750.6 +0.2 239 4.4 GTF3C2 ZNF785 ZNF24 ZBTB40 SIX5 RBPJ POLR2A CREB1 HCFC1 NFYC GAB1 RF00017-4422 lnc-FREM3-6 SMARCA5
GH04J143373 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 762.1 +42.0 42044 10.6 ZNF24 CTCF RBPJ NR2F1 NR2F6 RELA RAD21 TEAD4 ZNF384 CBFA2T2 GAB1 USP38 lnc-SMARCA5-7 piR-50443-293
GH04J143372 Enhancer 1.1 Ensembl ENCODE dbSUPER 12.6 +35.7 35739 1.4 ZNF24 ETV6 RELA CREM ZBED1 IKZF1 BACH1 TRIM22 IKZF2 CBFB piR-50443-293 GAB1 ENSG00000286771
GH04J143410 Enhancer 0.9 FANTOM5 ENCODE dbSUPER 14.5 +75.1 75061 2 PRDM10 CEBPB JUN JUND ZXDB STAT1 ZNF623 PRDM6 GAB1 lnc-FREM3-5 RPSAP36
GH04J143386 Enhancer 0.7 dbSUPER 16.3 +51.8 51830 3.3 FOXA1 MIXL1 HLF RERE SP5 EGR1 GATAD2A FOXA2 CEBPB SOX13 GAB1 ENSG00000250326 USP38 lnc-SMARCA5-7 lnc-FREM3-5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GAB1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GAB1 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • STAT3

Genomic Locations for GAB1 Gene

Genomic Locations for GAB1 Gene
chr4:143,336,762-143,474,568
(GRCh38/hg38)
Size:
137,807 bases
Orientation:
Plus strand
chr4:144,257,915-144,395,721
(GRCh37/hg19)
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 (PubMed:15010462). Interacts with phosphorylated LAT2 (PubMed:12486104). Interacts with PTPRJ (PubMed:12475979). Identified in a complex containing FRS2, GRB2, GAB1, PIK3R1 and SOS1. Interacts (phosphorylated) with PTPN11 (PubMed:15010462). Interacts with HCK (PubMed:15010462). Part of a tripartite complex containing GAB1, METTL13 and SPRY2 (PubMed:29408807). Interacts with METTL13 (PubMed:29408807).

    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

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

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GAB1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53999, highly similar to GRB2-associated-binding protein 1 (B7Z3B9_HUMAN)
  • Growth factor receptor bound protein 2-associated protein 1 (GAB1_HUMAN)

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). Involved in the MET/HGF-signaling pathway (PubMed:29408807).

Phenotypes From GWAS Catalog for GAB1 Gene

Gene Ontology (GO) - Molecular Function for GAB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005070 SH3/SH2 adaptor activity TAS 8596638
GO:0005515 protein binding IPI 9658397
genes like me logo Genes that share ontologies with GAB1: view
genes like me logo Genes that share phenotypes with GAB1: view

Human Phenotype Ontology for GAB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GAB1 Gene

MGI Knock Outs for GAB1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GAB1

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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 4
endoplasmic reticulum 2
plasma membrane 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GAB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005911 cell-cell junction IMP 26706435
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

PathCards logo

SuperPathways for GAB1 Gene

SuperPathway Contained pathways
1 RET signaling
2 Downstream signaling of activated FGFR2
3 PI3K/AKT activation
4 Development HGF signaling pathway
5 Signaling by Ligand-Responsive EGFR Variants 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:0001525 angiogenesis IMP 17178724
GO:0007173 epidermal growth factor receptor signaling pathway TAS --
GO:0007411 axon guidance TAS --
GO:0008286 insulin receptor signaling pathway TAS 8596638
GO:0014068 positive regulation of phosphatidylinositol 3-kinase signaling TAS --
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

(2) REFSEQ mRNAs :
(12) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(14) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GAB1

Clone 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, 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

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 33 32
  • 99.63 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GAB1 33 32
  • 92.15 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GAB1 33 32
  • 91.31 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GAB1 33
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GAB1 33
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gab1 17 33 32
  • 84.34 (n)
rat
(Rattus norvegicus)
Mammalia Gab1 32
  • 82.85 (n)
chicken
(Gallus gallus)
Aves GAB1 33 32
  • 83.19 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GAB1 33
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gab1 32
  • 75.38 (n)
Str.956 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.7533 32
zebrafish
(Danio rerio)
Actinopterygii gab1 33 32
  • 66.67 (n)
OneToOne
Dr.17509 32
fruit fly
(Drosophila melanogaster)
Insecta dos 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GAB1: view image

Paralogs for GAB1 Gene

Paralogs for GAB1 Gene

(2) SIMAP similar genes for GAB1 Gene using alignment to 7 proteins:

  • GAB1_HUMAN
  • B7Z3B9_HUMAN
  • D6RF42_HUMAN
  • D6RIF8_HUMAN
  • D6RIS0_HUMAN
  • H0Y8F4_HUMAN
  • H0YA71_HUMAN
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 Variation AA Info Type
rs1553950635 pathogenic, Deafness, autosomal recessive 26, Deafness, autosomal recessive, 26 (DFNB26) [MIM:605428] 143,415,751(+) G/A coding_sequence_variant, missense_variant
VAR_036132 A breast cancer sample p.Tyr83Cys
VAR_036133 A breast cancer sample p.Thr387Asn
rs1000075588 -- 143,337,548(+) T/C genic_upstream_transcript_variant, intron_variant
rs1000083913 -- 143,363,200(+) T/C genic_upstream_transcript_variant, intron_variant

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)

Additional Variant Information for GAB1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for GAB1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for GAB1 Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search GAB1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GAB1_HUMAN
  • Deafness, autosomal recessive, 26 (DFNB26) [MIM:605428]: A form of non-syndromic sensorineural deafness characterized by prelingual, severe to profound hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:29408807}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GAB1

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

No data available for 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 AJ (Nature 1996) 2 3 4 23 56
  2. Modifier variant of METTL13 suppresses human GAB1-associated profound deafness. (PMID: 29408807) Yousaf R … Riazuddin S (The Journal of clinical investigation 2018) 2 3 4 56
  3. Grb2-associated binder 1 polymorphism was associated with the risk of Helicobactor pylori infection and gastric atrophy. (PMID: 17211494) Goto Y … Hamajima N (International journal of medical sciences 2006) 3 23 43 56
  4. 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 KC (The Journal of biological chemistry 2004) 3 4 23 56
  5. Hepatocyte growth factor receptor tyrosine kinase met is a substrate of the receptor protein-tyrosine phosphatase DEP-1. (PMID: 12475979) Palka HL … Tonks NK (The Journal of biological chemistry 2003) 3 4 23 56

Products for GAB1 Gene

Sources for GAB1 Gene