SENP3
SUMO specific peptidase 3
Summary
The reversible posttranslational modification of proteins by the addition of small ubiquitin-like SUMO proteins (see SUMO1; MIM 601912) is required for numerous biologic processes. SUMO-specific proteases, such as SENP3, are responsible for the initial processing of SUMO precursors to generate a C-terminal diglycine motif required for the conjugation reaction. They also have isopeptidase activity for the removal of SUMO from high molecular mass SUMO conjugates (Di Bacco et al., 2006 [PubMed 16738315]).[supplied by OMIM, Jun 2009]
Known Variants26 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs762253310 | 17:7,466,472 | C/G | — | uncertain significance |
| rs1230589519 | 17:7,466,484 | C/T | — | uncertain significance |
| rs533827575 | 17:7,466,622 | G/A | — | uncertain significance |
| rs201692314 | 17:7,466,648 | G/C | — | uncertain significance |
| rs1472810935 | 17:7,466,655 | G/A | — | uncertain significance |
| rs569520715 | 17:7,466,694 | A/G | — | uncertain significance |
| rs1426058075 | 17:7,466,747 | T/A | — | uncertain significance |
| rs199654409 | 17:7,466,802 | C/T | — | uncertain significance |
| rs200761830 | 17:7,466,863 | G/A | — | uncertain significance |
| rs2508432536 | 17:7,466,952 | G/C | — | uncertain significance |
| rs759950189 | 17:7,467,021 | A/G | — | uncertain significance |
| rs201454907 | 17:7,467,048 | C/T | — | uncertain significance |
| rs201323747 | 17:7,467,063 | G/T | — | uncertain significance |
| rs1597838496 | 17:7,467,079 | C/T | — | uncertain significance |
| rs199816482 | 17:7,467,942 | G/A | — | uncertain significance |
| rs761727872 | 17:7,467,968 | G/C | — | uncertain significance |
| rs755497618 | 17:7,467,998 | G/C | — | uncertain significance |
| rs748991157 | 17:7,468,013 | C/A | — | uncertain significance |
| rs2508435948 | 17:7,468,044 | T/C | — | uncertain significance |
| rs370808987 | 17:7,468,054 | C/T | — | likely benign |
| rs763546172 | 17:7,468,134 | C/T | — | uncertain significance |
| rs781229346 | 17:7,468,300 | C/G | — | uncertain significance |
| rs2071260689 | 17:7,468,833 | G/T | — | uncertain significance |
| rs11078697 | 17:7,469,229 | C/G | — | — |
| rs12939472 | 17:7,472,733 | C/G | — | — |
| rs2508449818 | 17:7,474,063 | G/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.