OTUD3
OTU deubiquitinase 3
Summary
Enables cysteine-type deubiquitinase activity. Involved in cellular response to nutrient levels and protein deubiquitination. Acts upstream of or within negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; protein deubiquitination; and protein stabilization. Located in cytoplasm. Is active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants22 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1168765870 | 1:20,209,040 | G/A | — | uncertain significance |
| rs1037887199 | 1:20,209,063 | G/T | — | uncertain significance |
| rs1191814308 | 1:20,209,076 | C/T | — | uncertain significance |
| rs773380225 | 1:20,209,095 | G/T | — | uncertain significance |
| rs2045284618 | 1:20,209,103 | C/G | — | uncertain significance |
| rs760142848 | 1:20,209,137 | G/A | — | uncertain significance |
| rs141873757 | 1:20,214,248 | A/C | intron variant | — |
| rs190906083 | 1:20,216,965 | G/C | — | uncertain significance |
| rs1377403155 | 1:20,224,072 | A/G | — | uncertain significance |
| rs200380749 | 1:20,224,085 | A/G | — | uncertain significance |
| rs201938614 | 1:20,224,118 | A/G | — | uncertain significance |
| rs4654925 | 1:20,227,723 | G/T | — | — |
| rs1311291528 | 1:20,231,384 | G/A | — | uncertain significance |
| rs772465704 | 1:20,231,396 | A/G | — | uncertain significance |
| rs200790645 | 1:20,231,450 | G/A | — | likely benign |
| rs532238566 | 1:20,231,453 | C/T | — | uncertain significance |
| rs369009180 | 1:20,231,456 | C/G | — | uncertain significance |
| rs564519845 | 1:20,232,976 | C/G | — | uncertain significance |
| rs1406640367 | 1:20,234,098 | G/T | — | uncertain significance |
| rs780582583 | 1:20,234,163 | G/C | — | uncertain significance |
| rs2522799430 | 1:20,234,199 | A/C | — | uncertain significance |
| rs757008985 | 1:20,234,234 | A/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.