WWP1
WW domain containing E3 ubiquitin protein ligase 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 which contains 4 tandem WW domains and a HECT (homologous to the E6-associated protein carboxyl terminus) domain. The encoded protein belongs to a family of NEDD4-like proteins, which are E3 ubiquitin-ligase molecules and regulate key trafficking decisions, including targeting of proteins to proteosomes or lysosomes. Alternative splicing of this gene generates at least 6 transcript variants; however, the full length nature of these transcripts has not been defined. [provided by RefSeq, Jul 2008]
Known Variants13 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11777810 | 8:87,402,480 | C/G | — | — |
| rs757241754 | 8:87,410,832 | T/G | — | uncertain significance |
| rs187132881 | 8:87,414,243 | T/C | — | likely benign |
| rs1337176530 | 8:87,414,276 | G/A | — | uncertain significance |
| rs369213021 | 8:87,424,007 | C/G | — | uncertain significance |
| rs2487999171 | 8:87,424,096 | C/A | — | uncertain significance |
| rs1809552275 | 8:87,437,472 | C/G | — | uncertain significance |
| rs771835365 | 8:87,439,966 | C/T | — | uncertain significance |
| rs779590886 | 8:87,447,715 | G/A | — | likely benign |
| rs773370868 | 8:87,454,888 | A/T | — | uncertain significance |
| rs148052681 | 8:87,459,893 | G/A | intron variant | — |
| rs1208514678 | 8:87,460,398 | A/G | — | uncertain significance |
| rs188228045 | 8:87,470,146 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.