HYOU1
hypoxia up-regulated 1
Summary
The protein encoded by this gene belongs to the heat shock protein 70 family. This gene uses alternative transcription start sites. A cis-acting segment found in the 5' UTR is involved in stress-dependent induction, resulting in the accumulation of this protein in the endoplasmic reticulum (ER) under hypoxic conditions. The protein encoded by this gene is thought to play an important role in protein folding and secretion in the ER. Since suppression of the protein is associated with accelerated apoptosis, it is also suggested to have an important cytoprotective role in hypoxia-induced cellular perturbation. This protein has been shown to be up-regulated in tumors, especially in breast tumors, and thus it is associated with tumor invasiveness. This gene also has an alternative translation initiation site, resulting in a protein that lacks the N-terminal signal peptide. This signal peptide-lacking protein, which is only 3 amino acids shorter than the mature protein in the ER, is thought to have a housekeeping function in the cytosol. In rat, this protein localizes to both the ER by a carboxy-terminal peptide sequence and to mitochondria by an amino-terminal targeting signal. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
Known Variants544 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs13929 | 11:118,915,755 | G/C | — | — |
| rs573944250 | 11:118,916,314 | G/C | — | uncertain significance |
| rs150272156 | 11:118,916,364 | G/A | — | likely benign |
| rs1944024305 | 11:118,916,473 | A/G | — | likely benign |
| rs2134674086 | 11:118,916,474 | G/T | — | likely benign |
| rs370908954 | 11:118,916,478 | C/T | — | likely benign |
| rs782254110 | 11:118,916,479 | G/A | — | uncertain significance |
| rs2497082086 | 11:118,916,489 | T/C | — | uncertain significance |
| rs1241039925 | 11:118,916,494 | T/A | — | uncertain significance |
| rs906607472 | 11:118,916,498 | C/G | — | uncertain significance |
| rs782760728 | 11:118,916,513 | T/C | — | uncertain significance |
| rs531266604 | 11:118,916,522 | T/G | — | uncertain significance |
| rs1272622887 | 11:118,916,531 | C/T | — | uncertain significance |
| rs781793271 | 11:118,916,533 | T/C | — | likely benign |
| rs373944521 | 11:118,916,538 | C/T | — | uncertain significance |
| rs782811813 | 11:118,916,539 | G/A | — | likely benign |
| rs2497082942 | 11:118,916,543 | C/T | — | uncertain significance |
| rs2497083137 | 11:118,916,554 | A/G | — | uncertain significance |
| rs115207968 | 11:118,916,556 | G/C | — | likely benign |
| rs189673760 | 11:118,916,557 | A/G | — | benign |
| rs2497090505 | 11:118,917,109 | C/T | — | uncertain significance |
| rs2134676653 | 11:118,917,117 | G/A | — | likely benign |
| rs2134676721 | 11:118,917,130 | A/G | — | uncertain significance |
| rs910522501 | 11:118,917,133 | C/A | — | uncertain significance |
| rs149415321 | 11:118,917,160 | C/T | — | likely benign |
| rs781950687 | 11:118,917,163 | T/C | — | likely benign |
| rs1944082149 | 11:118,917,167 | T/C | — | uncertain significance |
| rs2497091443 | 11:118,917,174 | T/A | — | uncertain significance |
| rs2497091468 | 11:118,917,176 | T/A | — | uncertain significance |
| rs539167601 | 11:118,917,178 | G/C | — | likely benign |
| rs1018069294 | 11:118,917,197 | G/T | — | likely benign |
| rs372246122 | 11:118,917,199 | A/G | — | likely benign |
| rs371965751 | 11:118,917,264 | C/T | — | likely benign |
| rs1944090748 | 11:118,917,290 | C/T | — | uncertain significance |
| rs567415628 | 11:118,917,300 | T/C | — | uncertain significance |
| rs782253471 | 11:118,917,307 | T/C | — | uncertain significance |
| rs1237399724 | 11:118,917,314 | G/A | — | uncertain significance |
| rs2497093207 | 11:118,917,315 | G/A | — | uncertain significance |
| rs782171221 | 11:118,917,318 | T/C | — | uncertain significance |
| rs1253974881 | 11:118,917,320 | G/C | — | uncertain significance |
| rs782409519 | 11:118,917,321 | A/C | — | uncertain significance |
| rs782013101 | 11:118,917,322 | G/C | — | uncertain significance |
| rs782371844 | 11:118,917,328 | G/A | — | uncertain significance |
| rs781963209 | 11:118,917,336 | C/T | — | uncertain significance |
| rs782726538 | 11:118,917,337 | G/A | — | uncertain significance |
| rs781922297 | 11:118,917,338 | G/C | — | likely benign |
| rs140010748 | 11:118,917,355 | T/C | — | uncertain significance |
| rs143927145 | 11:118,917,360 | C/T | — | uncertain significance |
| rs552980302 | 11:118,917,366 | C/T | — | uncertain significance |
| rs191689789 | 11:118,917,367 | G/A | — | uncertain significance |
| rs782269419 | 11:118,917,371 | C/T | — | likely benign |
| rs782632955 | 11:118,917,403 | G/C | — | uncertain significance |
| rs1480966452 | 11:118,917,411 | C/T | — | uncertain significance |
| rs1443799599 | 11:118,917,426 | A/G | — | uncertain significance |
| rs1944100735 | 11:118,917,428 | C/T | — | likely benign |
| rs2134677485 | 11:118,917,438 | A/G | — | uncertain significance |
| rs373908901 | 11:118,917,460 | G/C | — | uncertain significance |
| rs781896433 | 11:118,917,461 | C/A | — | uncertain significance |
| rs147237122 | 11:118,917,472 | C/T | — | uncertain significance |
| rs148717311 | 11:118,917,473 | G/A | — | likely benign |
| rs370532873 | 11:118,917,490 | C/T | — | uncertain significance |
| rs375699522 | 11:118,917,491 | G/A | — | likely benign |
| rs1592132899 | 11:118,917,492 | G/T | — | uncertain significance |
| rs142217566 | 11:118,917,496 | G/C | — | conflicting classifications of pathogenicity |
| rs782538718 | 11:118,918,427 | G/A | — | likely benign |
| rs2134681473 | 11:118,918,429 | A/G | — | likely benign |
| rs2134681490 | 11:118,918,431 | T/C | — | likely benign |
| rs782654818 | 11:118,918,434 | C/T | — | uncertain significance |
| rs782484662 | 11:118,918,435 | G/A | — | likely benign |
| rs2497107117 | 11:118,918,437 | A/G | — | uncertain significance |
| rs924787266 | 11:118,918,439 | T/C | — | likely benign |
| rs534349629 | 11:118,918,456 | T/C | — | uncertain significance |
| rs2497107318 | 11:118,918,460 | T/G | — | uncertain significance |
| rs912190885 | 11:118,918,473 | C/T | — | likely benign |
| rs782257624 | 11:118,918,474 | G/A | — | uncertain significance |
| rs2497107757 | 11:118,918,500 | C/T | — | likely benign |
| rs2497107923 | 11:118,918,511 | C/G | — | uncertain significance |
| rs781917127 | 11:118,918,522 | C/T | — | uncertain significance |
| rs61902088 | 11:118,918,523 | G/A | — | uncertain significance |
| rs372174234 | 11:118,918,525 | G/C | — | uncertain significance |
| rs374558947 | 11:118,918,526 | C/A | — | uncertain significance |
| rs201472881 | 11:118,918,530 | C/G | — | uncertain significance |
| rs7931970 | 11:118,918,537 | G/A | — | benign |
| rs1195939452 | 11:118,918,640 | G/A | — | uncertain significance |
| rs2298481 | 11:118,918,649 | G/T | — | likely benign |
| rs2134682060 | 11:118,918,662 | A/C | — | uncertain significance |
| rs151232109 | 11:118,918,664 | G/A | — | uncertain significance |
| rs138286788 | 11:118,918,682 | G/C | — | benign |
| rs962806739 | 11:118,918,689 | T/C | — | uncertain significance |
| rs781809135 | 11:118,918,693 | C/T | — | uncertain significance |
| rs200889803 | 11:118,918,694 | G/A | — | likely benign |
| rs782673531 | 11:118,918,699 | C/T | — | uncertain significance |
| rs782274020 | 11:118,918,707 | C/T | — | uncertain significance |
| rs782514180 | 11:118,918,708 | G/A | — | conflicting classifications of pathogenicity |
| rs375264979 | 11:118,918,712 | G/C | — | uncertain significance |
| rs2134682173 | 11:118,918,720 | T/C | — | uncertain significance |
| rs199894442 | 11:118,918,721 | C/A | — | uncertain significance |
| rs782591122 | 11:118,918,725 | C/T | — | uncertain significance |
| rs1944187985 | 11:118,918,726 | G/A | — | uncertain significance |
| rs1944188646 | 11:118,918,735 | C/T | — | uncertain significance |
Showing 100 of 544 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.