GAB1 (GRB2 associated binding protein 1)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 2549 |
| Gene name | GRB2 associated binding protein 1 |
| Gene symbol | GAB1 |
| Synonyms (NCBI Gene) |
DFNB26
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| Chromosome | 4 |
| Chromosome location | 4q31.21 |
| 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 |
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SNPs
SNP information provided by dbSNP.
1
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miRNA
miRNA information provided by mirtarbase database.
222
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q13480 | ||||||||||
| Protein name | GRB2-associated-binding protein 1 (GRB2-associated binder 1) (Growth factor receptor bound protein 2-associated protein 1) | ||||||||||
| Protein 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 re | ||||||||||
| PDB | 4QSY | ||||||||||
| Family and domains |
Pfam
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| Sequence |
MSGGEVVCSGWLRKSPPEKKLKRYAWKRRWFVLRSGRLTGDPDVLEYYKNDHAKKPIRII |
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| Sequence length | 694 | ||||||||||
| Interactions | View interactions | ||||||||||
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
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Related Genes
Genes most often co-reported with GAB1 across shared curated disease and pathway associations.
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Diseases Linked via Similar Genes
Diseases curated for genes most similar to GAB1 (see Related Genes above), that are NOT already directly curated for GAB1 itself -- a lead worth checking, not a confirmed association.
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