GAB1 - GRB2 associated binding protein 1 Gene
Also Known as DFNB26
Species: Homo sapiens
About GAB1
This gene has 14 transcripts (splice variants), 258 orthologues, 7 paralogues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 3.3), lung (RPKM 3.0) and 25 other tissues.
Summary
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 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_002039.4 | NP_002030.2 | GRB2-associated-binding protein 1 isoform b |
| NM_207123.3 | NP_997006.1 | GRB2-associated-binding protein 1 isoform a |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
9658397 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in angiogenesis |
IMP
IMP: Inferred from mutant phenotype
|
17178724 | GOA |
| involved in endothelial cell chemotaxis |
IMP
IMP: Inferred from mutant phenotype
|
17178724 | GOA |
| involved in positive regulation of angiogenesis |
IMP
IMP: Inferred from mutant phenotype
|
25217442 | GOA |
| involved in vascular endothelial growth factor signaling pathway |
IMP
IMP: Inferred from mutant phenotype
|
17178724 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cell-cell junction |
IMP
IMP: Inferred from mutant phenotype
|
26706435 | GOA |
GAB1 Protein Structure
PH: PH domain (6 - 115)
- 0
- 200
- 400
- 600
- 694 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
GRB2-associated-binding protein 1 |
|
GAB1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
GAB1 | Q13480 | GTF2A1L | Homo sapiens | Q9UNN4 | 25416956 | |
|
Intra
|
GAB1 | Q13480 | GTF2A1L | Homo sapiens | Q9UNN4 | 25416956 | |
|
Intra
|
GAB1 | Q13480 | PTPN11 | Homo sapiens | Q06124-2 | 24935154 | |
|
Intra
|
GAB1 | Q13480 | PTPN11 | Homo sapiens | Q06124-2 | 24935154 | |
|
Intra
|
GAB1 | Q13480 | EGFR | Homo sapiens | P00533 | 24658140 | |
|
Intra
|
GAB1 | Q13480 | PTPN11 | Homo sapiens | Q06124 | 11323411 | |
|
Intra
|
GAB1 | Q13480 | PTPN11 | Homo sapiens | Q06124 | 11323411 | |
|
Intra
|
GAB1 | Q13480 | PTPN11 | Homo sapiens | Q06124 | 14665621 | |
|
Intra
|
GAB1 | Q13480 | PTPN11 | Homo sapiens | Q06124 | 15574420 | |
|
Intra
|
GAB1 | Q13480 | PTPN11 | Homo sapiens | Q06124 | 12855672 | |
|
Intra
|
GAB1 | Q13480 | PTPN11 | Homo sapiens | Q06124 | 9658397 | |
|
Intra
|
GAB1 | Q13480 | PTPN11 | Homo sapiens | Q06124 | 14701753 | |
|
Intra
|
GAB1 | Q13480 | PTPN11 | Homo sapiens | Q06124 | 11323411 | |
|
Intra
|
GAB1 | Q13480 | GRB2 | Homo sapiens | P62993 | 20936779 | |
|
Intra
|
GAB1 | Q13480 | GRB2 | Homo sapiens | P62993 | 31980649 | |
|
Intra
|
GAB1 | Q13480 | GRB2 | Homo sapiens | P62993 | 22536782 | |
|
Intra
|
GAB1 | Q13480 | GRB2 | Homo sapiens | P62993 | 10913131 | |
|
Intra
|
GAB1 | Q13480 | PXN | Homo sapiens | P49023 | 14665621 | |
|
Intra
|
GAB1 | Q13480 | PIK3R1 | Homo sapiens | P27986 | 10978177 | |
|
Intra
|
GAB1 | Q13480 | PIK3R1 | Homo sapiens | P27986 | 16638574 | |
|
Intra
|
GAB1 | Q13480 | PIK3R1 | Homo sapiens | P27986 | 10978177 | |
|
Intra
|
GAB1 | Q13480 | CRKL | Homo sapiens | P46109 | 31585087 | |
|
Cross
|
GAB1 | Q13480 | Rasa1 | Rattus norvegicus | P50904 | 31585087 |
GAB1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P80818 | Phospho-GAB1 (Tyr627) Antibody | WB, IHC-P, IHC-F, ICC/IF, ELISA | Human, Mouse, Rat |
| HY-P84543 | GAB1 Antibody (YA4240) | WB, IHC-P, FC, ELISA | Human |
| HY-P84543A | GAB1 Antibody (YA4240)(PBS only) | WB, IHC-P, FC, ELISA | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Deafness, Autosomal Recessive 26 |
|
|
| Olfactory Groove Meningioma |
|
|
| Glioblastoma |
|
|
| Childhood Hepatocellular Carcinoma |
|
|
| Rasopathy |
|
|
| Noonan Syndrome 1 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | GAB1 | MGD | MGI:108088 |
| Bos taurus | GAB1 | VGNC | VGNC:29183 |
| Felis catus | GAB1 | VGNC | VGNC:62412 |
| Canis familiaris | GAB1 | VGNC | VGNC:41045 |
| Rattus norvegicus | GAB1 | RGD | RGD:1311085 |
| Macaca mulatta | GAB1 | VGNC | VGNC:72842 |
| Others | GAB1 | NCBI |