USP5
ubiquitin specific peptidase 5
Summary
Ubiquitin (see MIM 191339)-dependent proteolysis is a complex pathway of protein metabolism implicated in such diverse cellular functions as maintenance of chromatin structure, receptor function, and degradation of abnormal proteins. A late step of the process involves disassembly of the polyubiquitin chains on degraded proteins into ubiquitin monomers. USP5 disassembles branched polyubiquitin chains by a sequential exo mechanism, starting at the proximal end of the chain (Wilkinson et al., 1995 [PubMed 7578059]).[supplied by OMIM, Mar 2010]
Known Variants38 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs200560402 | 12:6,959,784 | A/G | downstream gene variant | — |
| rs2542390030 | 12:6,961,354 | T/C | — | uncertain significance |
| rs143249320 | 12:6,961,397 | C/T | — | benign |
| rs987131672 | 12:6,961,403 | G/A | — | likely benign |
| rs2542401114 | 12:6,964,645 | G/T | — | uncertain significance |
| rs373785473 | 12:6,964,689 | C/T | — | likely benign |
| rs145733981 | 12:6,964,942 | C/T | — | benign |
| rs201872573 | 12:6,964,958 | C/G | — | uncertain significance |
| rs200475983 | 12:6,964,959 | G/A | — | uncertain significance |
| rs1256756399 | 12:6,965,192 | G/A | — | uncertain significance |
| rs200472768 | 12:6,965,550 | C/T | — | uncertain significance |
| rs2542412222 | 12:6,967,681 | C/A | — | uncertain significance |
| rs76083908 | 12:6,969,322 | C/T | — | benign |
| rs782402534 | 12:6,969,364 | C/A | — | uncertain significance |
| rs782024660 | 12:6,969,365 | C/T | — | uncertain significance |
| rs1482825317 | 12:6,969,603 | A/G | — | uncertain significance |
| rs143986399 | 12:6,970,237 | C/T | — | benign |
| rs782483420 | 12:6,970,255 | G/A | — | uncertain significance |
| rs782594146 | 12:6,970,633 | A/C | — | uncertain significance |
| rs781936322 | 12:6,970,637 | G/A | — | uncertain significance |
| rs1555129574 | 12:6,970,715 | A/G | — | uncertain significance |
| rs2542422600 | 12:6,970,754 | C/T | — | uncertain significance |
| rs148640344 | 12:6,971,700 | A/C | — | uncertain significance |
| rs2542425259 | 12:6,971,708 | T/C | — | uncertain significance |
| rs184861396 | 12:6,971,805 | A/G | — | — |
| rs61761597 | 12:6,972,412 | C/T | — | uncertain significance |
| rs35165406 | 12:6,972,414 | C/T | — | benign |
| rs2542427133 | 12:6,972,430 | C/G | — | uncertain significance |
| rs2542427566 | 12:6,972,539 | C/T | — | uncertain significance |
| rs529828085 | 12:6,972,692 | C/A | — | — |
| rs782333337 | 12:6,973,048 | T/C | — | uncertain significance |
| rs139483668 | 12:6,973,059 | C/T | — | uncertain significance |
| rs782070238 | 12:6,973,060 | G/A | — | uncertain significance |
| rs782524704 | 12:6,973,276 | G/A | — | uncertain significance |
| rs979035218 | 12:6,973,973 | C/T | — | uncertain significance |
| rs376244475 | 12:6,973,991 | A/G | — | uncertain significance |
| rs781874072 | 12:6,974,374 | G/A | — | uncertain significance |
| rs2542438716 | 12:6,975,204 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.