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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]
GAB1 (GRB2 Associated Binding Protein 1) is a Protein Coding gene. Diseases associated with GAB1 include Deafness, Autosomal Recessive 26 and Breast Cancer. Among its related pathways are NGF Pathway and RET signaling. 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.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005070 | SH3/SH2 adaptor activity | TAS | -- |
GO:0005515 | protein binding | IPI | 9658397 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005829 | cytosol | TAS | -- |
GO:0005911 | cell-cell junction | IMP | 26706435 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
.92
|
|
2 | Downstream signaling of activated FGFR2 | ||
3 | GAB1 signalosome |
.89
|
|
4 | Development HGF signaling pathway |
Development HGF signaling pathway
.44
Development Neurotrophin family signaling
.44
Apoptosis and survival NGF signaling pathway
.36
|
|
5 | Signaling by Ligand-Responsive EGFR Variants in Cancer |
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 | -- |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||||||||||
SP3: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GAB1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GAB1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GAB1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | GAB1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | GAB1 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Gab1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Gab1 30 |
|
||
Chicken (Gallus gallus) |
Aves | GAB1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GAB1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gab1 30 |
|
||
Str.956 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.7533 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | gab1 30 31 |
|
OneToOne | |
Dr.17509 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | dos 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1553950635 | Pathogenic: Deafness, autosomal recessive 26. Deafness, autosomal recessive, 26 (DFNB26) [MIM:605428] | 143,415,751(+) | G/Ap.Gly116Glu | MISSENSE_VARIANT | |
VAR_036132 | A breast cancer sample | p.Tyr83Cys | |||
VAR_036133 | A breast cancer sample | p.Thr387Asn | |||
rs2229879 | - | p.Thr377Ile | |||
rs28925904 | - | p.Pro311Leu |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
deafness, autosomal recessive 26 |
|
|
breast cancer |
|
|
hepatocellular carcinoma |
|
|