USP1
ubiquitin specific peptidase 1
Summary
This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and cleaves the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. The protein specifically deubiquitinates a protein in the Fanconi anemia (FA) DNA repair pathway. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
Known Variants57 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs624698 | 1:62,900,811 | A/G | upstream gene variant | — |
| rs624700 | 1:62,900,812 | G/T | — | — |
| rs626787 | 1:62,901,243 | C/G | upstream gene variant | — |
| rs9436221 | 1:62,903,359 | T/C | regulatory region variant | — |
| rs9436223 | 1:62,903,547 | C/T | regulatory region variant | — |
| rs12029068 | 1:62,904,295 | C/T | regulatory region variant | — |
| rs9436661 | 1:62,904,575 | T/G | intron variant | — |
| rs10493322 | 1:62,905,893 | C/T | regulatory region variant | — |
| rs638305 | 1:62,906,537 | G/T | intron variant | — |
| rs377527620 | 1:62,907,163 | C/A | — | uncertain significance |
| rs142419211 | 1:62,907,214 | A/G | — | uncertain significance |
| rs642845 | 1:62,908,235 | T/G | — | — |
| rs641540 | 1:62,908,538 | A/G | intron variant | — |
| rs765452651 | 1:62,908,849 | C/T | — | uncertain significance |
| rs747889206 | 1:62,908,875 | A/G | — | uncertain significance |
| rs140037839 | 1:62,908,939 | A/G | — | uncertain significance |
| rs267598686 | 1:62,910,567 | C/T | — | uncertain significance |
| rs1236960994 | 1:62,910,587 | A/G | — | uncertain significance |
| rs199923196 | 1:62,910,612 | T/G | — | uncertain significance |
| rs147049871 | 1:62,910,636 | A/C | — | uncertain significance |
| rs776525311 | 1:62,910,710 | T/C | — | uncertain significance |
| rs373514809 | 1:62,910,819 | C/T | — | uncertain significance |
| rs376772835 | 1:62,910,836 | A/G | — | uncertain significance |
| rs374728774 | 1:62,910,845 | C/A | — | uncertain significance |
| rs2523379280 | 1:62,910,866 | A/G | — | uncertain significance |
| rs373500322 | 1:62,910,897 | C/T | — | uncertain significance |
| rs140409730 | 1:62,910,901 | C/T | — | benign |
| rs1459833687 | 1:62,910,911 | A/G | — | uncertain significance |
| rs137996192 | 1:62,910,943 | C/G | — | uncertain significance |
| rs370270954 | 1:62,910,945 | A/G | — | uncertain significance |
| rs1177815216 | 1:62,910,946 | A/C | — | uncertain significance |
| rs200323735 | 1:62,910,981 | A/T | — | uncertain significance |
| rs955924989 | 1:62,911,019 | A/G | — | uncertain significance |
| rs2523380130 | 1:62,911,034 | G/A | — | uncertain significance |
| rs778716076 | 1:62,911,037 | C/A | — | uncertain significance |
| rs369529517 | 1:62,911,041 | A/C | — | uncertain significance |
| rs598253 | 1:62,911,341 | T/C | intron variant | — |
| rs659656 | 1:62,912,120 | C/G | intron variant | — |
| rs10158897 | 1:62,912,919 | C/T | intron variant | — |
| rs1645182822 | 1:62,913,020 | C/G | — | uncertain significance |
| rs1370558330 | 1:62,913,155 | C/G | — | uncertain significance |
| rs783291 | 1:62,914,978 | G/A | intron variant | — |
| rs11207970 | 1:62,915,473 | C/T | downstream gene variant | — |
| rs756605102 | 1:62,916,101 | C/T | — | uncertain significance |
| rs375736938 | 1:62,916,230 | A/G | — | uncertain significance |
| rs370067920 | 1:62,916,282 | T/C | — | uncertain significance |
| rs141001844 | 1:62,916,290 | A/G | — | likely benign |
| rs114296661 | 1:62,916,310 | A/G | — | benign |
| rs1414772115 | 1:62,916,339 | A/G | — | uncertain significance |
| rs760932219 | 1:62,916,353 | C/T | — | uncertain significance |
| rs140241926 | 1:62,916,375 | C/T | — | uncertain significance |
| rs144817155 | 1:62,916,503 | G/A | — | uncertain significance |
| rs377155269 | 1:62,916,584 | C/G | — | uncertain significance |
| rs1292561673 | 1:62,916,605 | A/C | — | uncertain significance |
| rs597470 | 1:62,917,796 | T/C | — | — |
| rs597078 | 1:62,917,857 | G/C | — | — |
| rs597076 | 1:62,917,865 | T/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.