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GAB1
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  • GAB1
PROTEIN SUMMARY SECTION OVERVIEW GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

GAB1
Synonyms DFNB26
Gene descriptioni

Full gene name according to HGNC.

GRB2 associated binding protein 1
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
Human disease related genes
RAS pathway related proteins
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 4
Cytoband q31.21
Chromosome location (bp) 143336876 - 143474565
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

7
Ensembl ENSG00000109458 (version 109)
Entrez gene 2549
HGNC HGNC:4066
UniProt Q13480 (UniProt - Evidence at protein level)
neXtProt NX_Q13480
GeneCards GAB1
Antibodypedia GAB1 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

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 1.... show less
Gene summary (Entrez)i

Useful information about the gene from Entrez

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]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
GAB1-201
ENSP00000262994
ENST00000262994
Q13480
[Direct mapping] GRB2-associated-binding protein 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
RAS pathway related proteins
Disease related genes
Human disease related genes
   Nervous system diseases
   Ear disease
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001525 [angiogenesis]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005911 [cell-cell junction]
GO:0007165 [signal transduction]
GO:0007173 [epidermal growth factor receptor signaling pathway]
GO:0008286 [insulin receptor signaling pathway]
GO:0031532 [actin cytoskeleton reorganization]
GO:0035591 [signaling adaptor activity]
GO:0035728 [response to hepatocyte growth factor]
GO:0038084 [vascular endothelial growth factor signaling pathway]
GO:0038089 [positive regulation of cell migration by vascular endothelial growth factor signaling pathway]
GO:0045766 [positive regulation of angiogenesis]
GO:0090668 [endothelial cell chemotaxis to vascular endothelial growth factor]
Show all
694 aa
76.6 kDa
No 0
GAB1-202
ENSP00000262995
ENST00000262995
Q13480
[Direct mapping] GRB2-associated-binding protein 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
RAS pathway related proteins
Disease related genes
Human disease related genes
   Nervous system diseases
   Ear disease
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001525 [angiogenesis]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005911 [cell-cell junction]
GO:0007165 [signal transduction]
GO:0007173 [epidermal growth factor receptor signaling pathway]
GO:0008286 [insulin receptor signaling pathway]
GO:0031532 [actin cytoskeleton reorganization]
GO:0035591 [signaling adaptor activity]
GO:0038084 [vascular endothelial growth factor signaling pathway]
GO:0038089 [positive regulation of cell migration by vascular endothelial growth factor signaling pathway]
GO:0045766 [positive regulation of angiogenesis]
GO:0090668 [endothelial cell chemotaxis to vascular endothelial growth factor]
Show all
724 aa
80 kDa
No 0
GAB1-203
ENSP00000424554
ENST00000505913
B7Z3B9
[Direct mapping] GRB2-associated-binding protein 1; cDNA FLJ53999, highly similar to GRB2-associated-binding protein 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
RAS pathway related proteins
Human disease related genes
   Nervous system diseases
   Ear disease
Protein evidence (Ezkurdia et al 2014)
Show all
591 aa
64.5 kDa
No 0
GAB1-207
ENSP00000425921
ENST00000509992
D6RIF8
[Direct mapping] GRB2-associated-binding protein 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
RAS pathway related proteins
Human disease related genes
   Nervous system diseases
   Ear disease
Protein evidence (Ezkurdia et al 2014)
Show all
176 aa
20 kDa
No 0
GAB1-211
ENSP00000426297
ENST00000512843
H0YA71
[Direct mapping] GRB2-associated-binding protein 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
RAS pathway related proteins
Human disease related genes
   Nervous system diseases
   Ear disease
Protein evidence (Ezkurdia et al 2014)
Show all
91 aa
9.7 kDa
No 0
GAB1-212
ENSP00000427435
ENST00000514639
D6RIS0
[Direct mapping] GRB2-associated-binding protein 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
RAS pathway related proteins
Human disease related genes
   Nervous system diseases
   Ear disease
Protein evidence (Ezkurdia et al 2014)
Show all
239 aa
26.9 kDa
No 0
GAB1-213
ENSP00000426668
ENST00000515366
D6RF42
[Direct mapping] GRB2-associated-binding protein 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
RAS pathway related proteins
Human disease related genes
   Nervous system diseases
   Ear disease
Protein evidence (Ezkurdia et al 2014)
Show all
48 aa
5.1 kDa
No 0

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