GAB1 - GRB2 associated binding protein 1 Gene

Homo sapiens

Also known as DFNB26

Gene ID: 2549 | Gene type: protein coding

About GAB1

Cytogenetic location: 4q31.21 Genomic coordinates (GRCh38): 4:143,336,876-143,474,565 (from NCBI)

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	9658397	GOA

Biological Process GO Annotation	Evidence	Reference	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	Reference	Source
located in cell-cell junction	IMP IMP: Inferred from mutant phenotype	26706435	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GAB1 Protein Structure

0
200
400
600
694 a.a.

Protein Preferred Names

Protein Names

GRB2-associated-binding protein 1

GRB2-associated binder 1

GAB1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	GAB1	Q13480	GTF2A1L	Homo sapiens	Q9UNN4	Y2H Prey Pooling	25416956
Intra	GAB1	Q13480	GTF2A1L	Homo sapiens	Q9UNN4	Validated Y2H	25416956
Intra	GAB1	Q13480	PTPN11	Homo sapiens	Q06124-2	Anti Tag CoIP	24935154
Intra	GAB1	Q13480	PTPN11	Homo sapiens	Q06124-2	Phosphatase Assay	24935154
Intra	GAB1	Q13480	EGFR	Homo sapiens	P00533	Ub Reconstruction	24658140
Intra	GAB1	Q13480	PTPN11	Homo sapiens	Q06124	Far-WB	11323411
Intra	GAB1	Q13480	PTPN11	Homo sapiens	Q06124	Anti Tag CoIP	11323411
Intra	GAB1	Q13480	PTPN11	Homo sapiens	Q06124	Anti Bait CoIP	14665621
Intra	GAB1	Q13480	PTPN11	Homo sapiens	Q06124	CoIP	15574420
Intra	GAB1	Q13480	PTPN11	Homo sapiens	Q06124	CoIP	12855672
Intra	GAB1	Q13480	PTPN11	Homo sapiens	Q06124	Y2H	9658397
Intra	GAB1	Q13480	PTPN11	Homo sapiens	Q06124	Anti Bait CoIP	14701753
Intra	GAB1	Q13480	PTPN11	Homo sapiens	Q06124	CoIP	11323411
Intra	GAB1	Q13480	GRB2	Homo sapiens	P62993	Y2H Pooling	20936779
Intra	GAB1	Q13480	GRB2	Homo sapiens	P62993	Anti Tag CoIP	31980649
Intra	GAB1	Q13480	GRB2	Homo sapiens	P62993	ITC	22536782
Intra	GAB1	Q13480	GRB2	Homo sapiens	P62993	Pull Down	10913131
Intra	GAB1	Q13480	PXN	Homo sapiens	P49023	Anti Bait CoIP	14665621
Intra	GAB1	Q13480	PIK3R1	Homo sapiens	P27986	CoIP	10978177
Intra	GAB1	Q13480	PIK3R1	Homo sapiens	P27986	Pull Down	16638574
Intra	GAB1	Q13480	PIK3R1	Homo sapiens	P27986	Pull Down	10978177
Intra	GAB1	Q13480	CRKL	Homo sapiens	P46109	Anti Bait CoIP	31585087
Cross	GAB1	Q13480	Rasa1	Rattus norvegicus	P50904	Pull Down	31585087

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Deafness, Autosomal Recessive 26

DFNB26	Autosomal Recessive Nonsyndromic Deafness 26
Autosomal Recessive Deafness 26	Deafness, Autosomal Recessive, 26

Olfactory Groove Meningioma

Meningioma Of The Olfactory Groove

Glioblastoma

Glioblastoma Multiforme	Gbm
Adult Glioblastoma Multiforme	Grade Iv Adult Astrocytic Tumor
Primary Glioblastoma Multiforme	Spongioblastoma Multiforme
Adult Glioblastoma	Primary Glioblastoma

Childhood Hepatocellular Carcinoma

Pediatric Hepatocellular Carcinoma	Childhood Carcinoma Of Liver Cell
Childhood Hepatoma	Childhood Liver Cell Carcinoma
Pediatric Carcinoma Of Liver Cell	Pediatric Hepatoma
Pediatric Liver Cell Carcinoma	Childhood-Onset Hcc
Childhood-Onset Hepatocellular Carcinoma	Pediatric Hcc
Childhood Liver Cancer

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

Noonan Syndrome 1

Noonan Syndrome	NS1
Male Turner Syndrome	Female Pseudo-Turner Syndrome
Turner Phenotype With Normal Karyotype	Noonan Syndrome With Pigmented Villonodular Synovitis
Turner'S Phenotype, Karyotype Normal	Familial Turner Syndrome
Noonan'S Syndrome	Noonan-Ehmke Syndrome
Ns	Pseudo-Ullrich-Turner Syndrome
Turner Syndrome In Female With X Chromosome	Turner-Like Syndrome
Ullrich-Noonan Syndrome	Noonan-Like/Multiple Giant Cell Lesion Syndrome
Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions	Pterygium Colli Syndrome
Noonan Syndrome, Type 1	Turner Syndrome, Male

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Approval

Bioactive Molecules (4)

Cat. No.	Product Name	Purity	Rare Diseases
HY-13404	Capmatinib	99.92%	Yes
HY-13404C	Capmatinib dihydrochloride hydrate	99.78%	Yes
HY-13404B	Capmatinib hydrochloride	99.60%	Unkown
HY-13404A	Capmatinib dihydrochloride	/	Unkown

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05197	GAB1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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