NPLOC4
NPL4 homolog, ubiquitin recognition factor
Summary
Predicted to enable ubiquitin binding activity and ubiquitin protein ligase binding activity. Predicted to contribute to K48-linked polyubiquitin modification-dependent protein binding activity and K63-linked polyubiquitin modification-dependent protein binding activity. Involved in negative regulation of RIG-I signaling pathway; negative regulation of type I interferon production; and proteolysis involved in protein catabolic process. Located in nucleus. Part of UFD1-NPL4 complex and VCP-NPL4-UFD1 AAA ATPase complex. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants40 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs369490885 | 17:79,526,315 | G/C | — | uncertain significance |
| rs113318717 | 17:79,526,379 | G/A | — | benign |
| rs760752376 | 17:79,526,401 | C/T | — | uncertain significance |
| rs765749847 | 17:79,526,404 | C/T | — | uncertain significance |
| rs201622340 | 17:79,526,422 | G/C | — | likely benign |
| rs201095089 | 17:79,526,432 | G/A | — | benign |
| rs8070929 | 17:79,530,993 | G/T | regulatory region variant | — |
| rs2544506333 | 17:79,532,543 | C/T | — | uncertain significance |
| rs2544511894 | 17:79,534,501 | G/A | — | uncertain significance |
| rs578188683 | 17:79,536,062 | C/T | — | uncertain significance |
| rs1167090984 | 17:79,536,097 | G/T | — | uncertain significance |
| rs779900595 | 17:79,536,114 | A/C | — | uncertain significance |
| rs17852307 | 17:79,539,073 | C/A | — | benign |
| rs12949956 | 17:79,542,813 | C/T | downstream gene variant | — |
| rs34635363 | 17:79,549,250 | G/C | — | — |
| rs12953229 | 17:79,554,271 | G/A | intron variant | — |
| rs12948708 | 17:79,558,741 | G/A | intron variant | — |
| rs2544568920 | 17:79,563,192 | A/G | — | uncertain significance |
| rs11656126 | 17:79,564,542 | G/A | intron variant | — |
| rs368226050 | 17:79,571,711 | C/T | — | uncertain significance |
| rs922916633 | 17:79,573,730 | G/A | — | uncertain significance |
| rs769821983 | 17:79,573,737 | C/T | — | uncertain significance |
| rs1171314402 | 17:79,575,837 | C/G | — | uncertain significance |
| rs8077038 | 17:79,577,127 | T/C | — | — |
| rs374269815 | 17:79,577,256 | C/T | — | uncertain significance |
| rs112364254 | 17:79,578,287 | G/A | intron variant | — |
| rs371360326 | 17:79,580,375 | C/T | — | uncertain significance |
| rs1480764802 | 17:79,580,426 | C/T | — | uncertain significance |
| rs201948322 | 17:79,580,437 | T/C | — | uncertain significance |
| rs776098226 | 17:79,580,446 | G/A | — | likely benign |
| rs7503221 | 17:79,583,371 | C/A | intron variant | — |
| rs7503894 | 17:79,583,473 | T/C | intron variant | — |
| rs75078292 | 17:79,585,492 | A/C | — | — |
| rs760735749 | 17:79,589,203 | C/G | — | uncertain significance |
| rs753134239 | 17:79,589,255 | T/C | — | uncertain significance |
| rs778199159 | 17:79,589,259 | T/G | — | uncertain significance |
| rs61586425 | 17:79,590,835 | C/G | — | — |
| rs2544645938 | 17:79,596,788 | G/A | — | uncertain significance |
| rs9894429 | 17:79,596,811 | C/T | synonymous variant | — |
| rs9905786 | 17:79,602,063 | G/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.