SAV1
salvador family WW domain containing protein 1
Summary
WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein with two WW domains, a SARAH domain, and a coiled-coil region and is ubiquitously expressed in adult tissues. This protein binds to MST1 (mammalian sterile 20-like kinase 1) and promotes MST1-induced apoptosis. It has also been shown to bind to HAX1 (hematopoietic cell-specific protein 1 (HS1)-associated protein X-1) and to attenuate the anti-apoptotic effects of HAX1. Studies in human and mouse suggest this gene acts as a tumor suppressor. [provided by RefSeq, Aug 2012]
Known Variants22 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2504599902 | 14:51,101,908 | T/A | — | uncertain significance |
| rs750590883 | 14:51,107,548 | C/A | — | uncertain significance |
| rs3015501 | 14:51,108,524 | C/T | upstream gene variant | — |
| rs1450512856 | 14:51,111,483 | T/G | — | uncertain significance |
| rs767579163 | 14:51,111,529 | C/T | — | uncertain significance |
| rs757631264 | 14:51,111,661 | G/A | — | uncertain significance |
| rs924027603 | 14:51,111,664 | G/A | — | uncertain significance |
| rs576270044 | 14:51,111,686 | A/C | — | uncertain significance |
| rs372117701 | 14:51,111,694 | T/C | — | uncertain significance |
| rs3015497 | 14:51,113,398 | T/A | — | — |
| rs3015495 | 14:51,114,703 | C/T | regulatory region variant | — |
| rs8018308 | 14:51,122,633 | T/C | intron variant | — |
| rs773554041 | 14:51,131,932 | T/C | — | uncertain significance |
| rs200421649 | 14:51,131,963 | T/C | — | uncertain significance |
| rs200335222 | 14:51,131,977 | G/A | — | likely benign |
| rs149657007 | 14:51,131,981 | G/A | — | uncertain significance |
| rs748258462 | 14:51,131,995 | C/T | — | uncertain significance |
| rs141154263 | 14:51,131,996 | G/A | — | uncertain significance |
| rs1283592365 | 14:51,132,200 | T/C | — | uncertain significance |
| rs1566749219 | 14:51,132,262 | G/A | — | uncertain significance |
| rs747363793 | 14:51,132,331 | A/G | — | uncertain significance |
| rs550463489 | 14:51,132,622 | T/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.