SSH1
slingshot protein phosphatase 1
Summary
The protein encoded by this gene belongs to the slingshot homolog (SSH) family of phosphatases, which regulate actin filament dynamics. The SSH proteins dephosphorylate and activate the actin binding/depolymerizing factor cofilin, which subsequently binds to actin filaments and stimulates their disassembly. Cofilin is inactivated by kinases such as LIM domain kinase-1 (LIMK1), which may also be dephosphorylated and inactivated by SSH proteins. The SSH family thus appears to play a role in actin dynamics by reactivating cofilin proteins. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
Known Variants73 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs190088437 | 12:109,179,282 | C/G | — | — |
| rs2499794831 | 12:109,181,800 | T/G | — | uncertain significance |
| rs756141505 | 12:109,181,891 | G/A | — | uncertain significance |
| rs61739302 | 12:109,181,932 | A/C | — | conflicting classifications of pathogenicity |
| rs746131292 | 12:109,182,081 | G/A | — | uncertain significance |
| rs796509444 | 12:109,182,144 | T/A | — | uncertain significance |
| rs1323034576 | 12:109,182,147 | G/A | — | uncertain significance |
| rs1457876763 | 12:109,182,158 | A/G | — | uncertain significance |
| rs185581673 | 12:109,182,198 | C/T | — | uncertain significance |
| rs1029514308 | 12:109,182,203 | C/T | — | uncertain significance |
| rs780341554 | 12:109,182,257 | G/T | — | uncertain significance |
| rs190071016 | 12:109,182,258 | C/T | — | uncertain significance |
| rs367620838 | 12:109,182,282 | C/T | — | uncertain significance |
| rs778610324 | 12:109,182,317 | T/G | — | uncertain significance |
| rs138759727 | 12:109,182,356 | G/A | — | uncertain significance |
| rs749773694 | 12:109,182,395 | G/C | — | uncertain significance |
| rs774191915 | 12:109,182,645 | A/C | — | uncertain significance |
| rs151176410 | 12:109,182,653 | G/A | — | likely benign |
| rs141317554 | 12:109,182,672 | G/A | — | uncertain significance |
| rs61739305 | 12:109,182,771 | G/C | — | benign |
| rs770923798 | 12:109,182,776 | G/A | — | likely benign |
| rs1038029136 | 12:109,182,797 | G/C | — | uncertain significance |
| rs764728494 | 12:109,182,805 | C/G | — | uncertain significance |
| rs763489789 | 12:109,182,812 | G/A | — | likely benign |
| rs751926975 | 12:109,182,818 | C/T | — | uncertain significance |
| rs781650687 | 12:109,182,824 | C/T | — | uncertain significance |
| rs116903144 | 12:109,182,881 | G/A | — | likely benign |
| rs148936887 | 12:109,182,891 | C/T | — | uncertain significance |
| rs143702605 | 12:109,182,899 | T/C | — | likely benign |
| rs2499815562 | 12:109,182,920 | C/T | — | uncertain significance |
| rs770497316 | 12:109,186,073 | T/C | — | likely benign |
| rs747534856 | 12:109,186,111 | G/A | — | uncertain significance |
| rs201082643 | 12:109,186,130 | C/G | — | uncertain significance |
| rs1593007477 | 12:109,186,154 | A/C | — | uncertain significance |
| rs374552387 | 12:109,186,187 | T/C | — | uncertain significance |
| rs540829930 | 12:109,186,217 | G/A | — | uncertain significance |
| rs751760166 | 12:109,186,225 | G/A | — | uncertain significance |
| rs1401699021 | 12:109,186,414 | A/T | — | uncertain significance |
| rs144450121 | 12:109,186,436 | G/C | — | uncertain significance |
| rs371382269 | 12:109,186,460 | C/T | — | likely benign |
| rs147936147 | 12:109,186,501 | T/A | — | likely benign |
| rs145141884 | 12:109,186,505 | G/A | — | likely benign |
| rs562175707 | 12:109,192,836 | G/A | — | uncertain significance |
| rs767419477 | 12:109,192,936 | C/A | — | uncertain significance |
| rs756413036 | 12:109,194,596 | C/T | — | uncertain significance |
| rs140151008 | 12:109,198,832 | G/A | — | benign |
| rs868126982 | 12:109,198,889 | C/G | — | uncertain significance |
| rs2037212081 | 12:109,198,957 | G/A | — | uncertain significance |
| rs377077491 | 12:109,200,144 | C/T | — | uncertain significance |
| rs546863573 | 12:109,200,148 | C/T | — | uncertain significance |
| rs549275441 | 12:109,201,261 | G/A | — | — |
| rs779058570 | 12:109,201,437 | G/T | — | uncertain significance |
| rs2037355030 | 12:109,201,457 | T/C | — | uncertain significance |
| rs1157273863 | 12:109,201,511 | T/C | — | uncertain significance |
| rs774379103 | 12:109,201,543 | G/A | — | likely benign |
| rs139497269 | 12:109,201,562 | C/T | — | uncertain significance |
| rs1184018103 | 12:109,201,572 | C/T | — | uncertain significance |
| rs1269382876 | 12:109,203,530 | A/C | — | uncertain significance |
| rs2037922589 | 12:109,210,868 | C/T | — | uncertain significance |
| rs771347690 | 12:109,210,910 | G/A | — | uncertain significance |
| rs114474594 | 12:109,210,929 | G/A | — | benign |
| rs2500183339 | 12:109,217,043 | T/C | — | uncertain significance |
| rs780850296 | 12:109,217,076 | G/A | — | uncertain significance |
| rs142896692 | 12:109,217,101 | G/A | — | benign |
| rs112934646 | 12:109,222,130 | A/G | — | — |
| rs145198057 | 12:109,246,411 | T/A | — | likely benign |
| rs199947776 | 12:109,246,419 | G/C | — | uncertain significance |
| rs781740216 | 12:109,246,430 | G/C | — | uncertain significance |
| rs2039066724 | 12:109,246,433 | C/G | — | uncertain significance |
| rs770412768 | 12:109,246,444 | C/T | — | uncertain significance |
| rs1286334046 | 12:109,251,227 | A/C | — | uncertain significance |
| rs1214532470 | 12:109,251,230 | C/A | — | uncertain significance |
| rs774022680 | 12:109,251,279 | G/C | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.