HSPA1A
heat shock protein family A (Hsp70) member 1A
Summary
This intronless gene encodes a 70kDa heat shock protein which is a member of the heat shock protein 70 family. In conjuction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. It is also involved in the ubiquitin-proteasome pathway through interaction with the AU-rich element RNA-binding protein 1. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which encode similar proteins. [provided by RefSeq, Jul 2008]
Known Variants12 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1008438 | 6:31,783,208 | A/C | regulatory region variant | association |
| rs33934112 | 6:31,783,376 | C/A | regulatory region variant | — |
| rs1043618 | 6:31,783,507 | G/C | regulatory region variant | association |
| rs1249226560 | 6:31,783,651 | A/C | — | uncertain significance |
| rs2481067566 | 6:31,783,684 | A/C | — | uncertain significance |
| rs1043620 | 6:31,783,755 | T/G | missense variant | — |
| rs562047 | 6:31,783,863 | G/C | missense variant | association |
| rs1061581 | 6:31,784,586 | G/A | synonymous variant | association |
| rs768292679 | 6:31,785,190 | G/A | — | uncertain significance |
| rs506770 | 6:31,785,228 | G/C | synonymous variant | — |
| rs2481073794 | 6:31,785,313 | C/T | — | uncertain significance |
| rs751703293 | 6:31,785,385 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.