ABI1
abl interactor 1
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]
Known Variants19 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1057519354 | 10:27,035,262 | A/C | missense variant | pathogenic |
| rs771996944 | 10:27,040,583 | T/C | — | uncertain significance |
| rs572768904 | 10:27,040,636 | T/G | — | benign |
| rs2491813139 | 10:27,044,663 | A/C | — | uncertain significance |
| rs2491884723 | 10:27,048,026 | T/C | — | uncertain significance |
| rs749924136 | 10:27,048,110 | C/G | — | uncertain significance |
| rs925075724 | 10:27,052,836 | G/A | — | uncertain significance |
| rs1218257151 | 10:27,052,862 | C/A | — | uncertain significance |
| rs781477958 | 10:27,054,175 | A/G | — | likely benign |
| rs763855870 | 10:27,054,230 | C/A | — | uncertain significance |
| rs762886352 | 10:27,057,806 | A/C | — | uncertain significance |
| rs1288005873 | 10:27,057,854 | T/C | — | uncertain significance |
| rs145334684 | 10:27,057,895 | T/C | — | uncertain significance |
| rs542305908 | 10:27,063,556 | T/C | — | — |
| rs561788174 | 10:27,066,044 | G/A | — | uncertain significance |
| rs190348364 | 10:27,121,805 | T/C | intron variant | — |
| rs10829115 | 10:27,141,207 | G/A | intron variant | — |
| rs745350093 | 10:27,149,683 | T/C | — | uncertain significance |
| rs1468709263 | 10:27,149,767 | T/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.