The gene information section lists the gene name (HUGO Gene Nomenclature Committee (HGNC) name if available), any approved gene synonyms, Ensembl gene description, and the Entrez gene summary from the National Center for Biotechnology Information.
The chromosomal and cytoband location of the gene according to Ensembl is reported together with the Ensembl gene identifier and Ensembl database version. The Entrez gene identifier for the gene is also given. If any of the protein products of the gene is linked to a UniProt KB/SWISS-PROT entry, links to the UniProt and the neXtProt databases for these proteins are displayed.
Gene name
ABI1 (HGNC Symbol)
Synonyms
ABI-1, E3B1, SSH3BP1
Description
Abl-interactor 1 (HGNC Symbol)
Entrez gene summary
This gene encodes a member of the Abelson-interactor family of adaptor proteins. These proteins facilitate signal transduction as components of several multiprotein complexes, and regulate actin polymerization and cytoskeletal remodeling through interactions with Abelson tyrosine kinases. The encoded protein plays a role in macropinocytosis as a component of the WAVE2 complex, and also forms a complex with EPS8 and SOS1 that mediates signal transduction from Ras to Rac. This gene may play a role in the progression of several malignancies including melanoma, colon cancer and breast cancer, and a t(10;11) chromosomal translocation involving this gene and the MLL gene has been associated with acute myeloid leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 14. [provided by RefSeq, Sep 2011]
The protein view displays protein features. The tabs at the top of the protein view section can be used to switch between the different splice variants encoded by this gene. The mouse over function displays additional data for the features in the protein view.
At the top of the protein view, the maximum percent sequence identity of the protein to all other proteins from other human genes is shown, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50) (read more).
If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0 and Phobius (turquoise) and/or transmembrane regions (orange) are predicted by MDM, these are displayed.
Common (purple) and unique (grey) regions between alternative processed transcripts from the same gene are also displayed (read more), and at the bottom of the protein view is the protein scale.
The protein information section displays the alternative protein-coding transcripts (splice variants) encoded by this gene, according to the Ensembl database.
The ENSP identifier links to the Ensembl website for that protein, and the ENST identifier links to the Ensembl website for that transcript. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes to which this protein has been assigned 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 predicted transmembrane region(s) (according to MDM) are also reported.
COSMIC Somatic Mutations COSMIC Translocations Cytoskeleton related proteins Cancer-related genes COSMIC somatic mutations in cancer genes Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
COSMIC Somatic Mutations COSMIC Translocations Cytoskeleton related proteins Cancer-related genes COSMIC somatic mutations in cancer genes Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
COSMIC Somatic Mutations COSMIC Translocations Cytoskeleton related proteins Cancer-related genes COSMIC somatic mutations in cancer genes Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
COSMIC Somatic Mutations COSMIC Translocations Cancer-related genes COSMIC somatic mutations in cancer genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
COSMIC Somatic Mutations COSMIC Translocations Cytoskeleton related proteins Cancer-related genes COSMIC somatic mutations in cancer genes Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
COSMIC Somatic Mutations COSMIC Translocations Cytoskeleton related proteins Cancer-related genes COSMIC somatic mutations in cancer genes Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
COSMIC Somatic Mutations COSMIC Translocations Cytoskeleton related proteins Cancer-related genes COSMIC somatic mutations in cancer genes Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
COSMIC Somatic Mutations COSMIC Translocations Cytoskeleton related proteins Cancer-related genes COSMIC somatic mutations in cancer genes Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
SCAMPI predicted membrane proteins COSMIC Somatic Mutations COSMIC Translocations Cytoskeleton related proteins Cancer-related genes COSMIC somatic mutations in cancer genes Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
COSMIC Somatic Mutations COSMIC Translocations Cancer-related genes COSMIC somatic mutations in cancer genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
COSMIC Somatic Mutations COSMIC Translocations Cancer-related genes COSMIC somatic mutations in cancer genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
COSMIC Somatic Mutations COSMIC Translocations Cancer-related genes COSMIC somatic mutations in cancer genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
COSMIC Somatic Mutations COSMIC Translocations Cytoskeleton related proteins Cancer-related genes COSMIC somatic mutations in cancer genes Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
COSMIC Somatic Mutations COSMIC Translocations Cancer-related genes COSMIC somatic mutations in cancer genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)