ERN1
endoplasmic reticulum to nucleus signaling 1
Summary
This gene encodes the transmembrane protein kinase inositol-requiring enzyme 1. The encoded protein contains two functional catalytic domains, a serine/threonine-protein kinase domain and an endoribonuclease domain. This protein functions as a sensor of unfolded proteins in the endoplasmic reticulum (ER) and triggers an intracellular signaling pathway termed the unfolded protein response (UPR). The UPR is an ER stress response that is conserved from yeast to mammals and activates genes involved in degrading misfolded proteins, regulating protein synthesis and activating molecular chaperones. This protein specifically mediates the splicing and activation of the stress response transcription factor X-box binding protein 1. [provided by RefSeq, Aug 2017]
Known Variants65 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs181249305 | 17:62,117,361 | G/C | 3 prime UTR variant | — |
| rs551030753 | 17:62,121,370 | G/T | — | uncertain significance |
| rs201032188 | 17:62,121,494 | C/T | — | uncertain significance |
| rs544395392 | 17:62,121,503 | C/T | — | uncertain significance |
| rs199650082 | 17:62,121,526 | C/T | missense variant | — |
| rs369663028 | 17:62,121,527 | G/A | — | uncertain significance |
| rs757530295 | 17:62,121,536 | C/T | — | uncertain significance |
| rs61738538 | 17:62,121,544 | T/C | — | uncertain significance |
| rs1480147796 | 17:62,122,231 | T/C | — | uncertain significance |
| rs776930056 | 17:62,122,749 | G/A | — | uncertain significance |
| rs551905307 | 17:62,122,805 | C/T | — | uncertain significance |
| rs183819996 | 17:62,123,208 | G/A | intron variant | — |
| rs932612521 | 17:62,125,245 | G/C | — | uncertain significance |
| rs758266847 | 17:62,125,271 | C/T | — | uncertain significance |
| rs2509424343 | 17:62,125,301 | C/A | — | uncertain significance |
| rs61736508 | 17:62,126,458 | G/A | — | benign |
| rs1260343265 | 17:62,126,517 | C/T | — | uncertain significance |
| rs1225040813 | 17:62,126,529 | C/T | — | uncertain significance |
| rs2509425630 | 17:62,126,538 | C/A | — | uncertain significance |
| rs761304824 | 17:62,130,142 | G/C | — | uncertain significance |
| rs2509429627 | 17:62,130,728 | C/T | — | uncertain significance |
| rs774625333 | 17:62,132,108 | T/C | — | uncertain significance |
| rs369602392 | 17:62,132,174 | C/G | — | uncertain significance |
| rs4968607 | 17:62,132,330 | G/C | — | — |
| rs181900001 | 17:62,133,037 | C/T | — | likely benign |
| rs754378768 | 17:62,133,055 | G/A | — | likely benign |
| rs61736503 | 17:62,133,058 | G/C | — | benign |
| rs759099512 | 17:62,133,103 | T/G | — | uncertain significance |
| rs546366953 | 17:62,133,124 | G/A | — | uncertain significance |
| rs758467855 | 17:62,133,144 | C/T | — | likely benign |
| rs1343090382 | 17:62,133,196 | G/A | — | uncertain significance |
| rs1912923699 | 17:62,135,224 | T/G | — | uncertain significance |
| rs1297884889 | 17:62,135,251 | C/T | — | uncertain significance |
| rs745625442 | 17:62,135,266 | G/A | — | uncertain significance |
| rs371477913 | 17:62,135,281 | C/T | — | uncertain significance |
| rs769398269 | 17:62,135,301 | C/T | — | likely benign |
| rs758416835 | 17:62,135,344 | G/C | — | uncertain significance |
| rs185298285 | 17:62,137,875 | C/T | — | uncertain significance |
| rs374518749 | 17:62,137,915 | T/G | — | uncertain significance |
| rs767148501 | 17:62,137,918 | T/C | — | uncertain significance |
| rs571928251 | 17:62,138,234 | C/T | — | — |
| rs764921751 | 17:62,141,400 | C/T | — | uncertain significance |
| rs371802368 | 17:62,141,411 | T/C | — | uncertain significance |
| rs1345789668 | 17:62,141,418 | C/T | — | uncertain significance |
| rs770944089 | 17:62,141,429 | G/A | — | uncertain significance |
| rs1555614071 | 17:62,141,433 | T/G | — | uncertain significance |
| rs377265771 | 17:62,141,505 | C/T | — | uncertain significance |
| rs751577144 | 17:62,144,056 | C/T | — | uncertain significance |
| rs773561085 | 17:62,144,149 | G/A | — | uncertain significance |
| rs199828702 | 17:62,144,271 | T/C | missense variant | — |
| rs16947430 | 17:62,145,338 | C/T | regulatory region variant | — |
| rs372593820 | 17:62,145,618 | C/T | — | uncertain significance |
| rs374999844 | 17:62,149,423 | G/A | — | likely benign |
| rs945286930 | 17:62,152,584 | T/A | — | uncertain significance |
| rs377351518 | 17:62,158,143 | A/T | — | uncertain significance |
| rs6504199 | 17:62,160,382 | C/A | regulatory region variant | — |
| rs6504200 | 17:62,160,439 | A/G | regulatory region variant | — |
| rs74780590 | 17:62,167,638 | C/T | intron variant | — |
| rs765501899 | 17:62,175,574 | G/A | — | uncertain significance |
| rs758546929 | 17:62,175,580 | C/T | — | uncertain significance |
| rs11655898 | 17:62,201,374 | T/C | intron variant | — |
| rs57767539 | 17:62,203,059 | G/A | intron variant | — |
| rs57676627 | 17:62,203,128 | C/A | — | — |
| rs60276348 | 17:62,203,304 | C/T | intron variant | — |
| rs61044233 | 17:62,206,607 | T/A | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.