HSPA1A

Chr 6

heat shock protein family A (Hsp70) member 1A

Also known as: HEL-S-103, HSP70, HSP70-1, HSP70-1A, HSP70-2, HSP70.1, HSP70.2, HSP70I

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]

ResearchGenerating clinical summary…
2
Active trials
135
Pubs (1 yr)
P/LP submissions
P/LP missense
1.29
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.29LOEUF
pLI 0.030
Z-score 1.12
OE 0.50 (0.231.29)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.43Z-score
OE missense 0.69 (0.590.81)
116 obs / 168.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.50 (0.231.29)
00.351.4
Missense OE?0.69 (0.590.81)
00.61.4
Synonymous OE?1.03
01.21.6
LoF obs/exp: 3 / 6.0Missense obs/exp: 116 / 168.1Syn Z: -0.22

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

HSPA1A · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.