HSPE1

Chr 2

heat shock protein family E (Hsp10) member 1

Also known as: CPN10, EPF, GROES, HSP10

NCBI Gene: 3336ENSG00000115541UniProt: P61604

This gene encodes a major heat shock protein which functions as a chaperonin. Its structure consists of a heptameric ring which binds to another heat shock protein in order to form a symmetric, functional heterodimer which enhances protein folding in an ATP-dependent manner. This gene and its co-chaperonin, HSPD1, are arranged in a head-to-head orientation on chromosome 2. Naturally occurring read-through transcription occurs between this locus and the neighboring locus MOBKL3.[provided by RefSeq, Feb 2011]

45
ClinVar variants
36
Pathogenic / LP
0.80
pLI score
0
Active trials
Clinical Summary— HSPE1
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.80) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
36 Pathogenic / Likely Pathogenic· 9 VUS of 45 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.56LOEUF
pLI 0.804
Z-score 2.15
OE 0.00 (0.00–0.56)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.45Z-score
OE missense 0.44 (0.31–0.62)
23 obs / 52.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.00 (0.00–0.56)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.44 (0.31–0.62)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.35
0≤1.21.6
LoF obs/exp: 0 / 5.4Missense obs/exp: 23 / 52.6Syn Z: -1.20

ClinVar Variant Classifications

45 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic35
Likely Pathogenic1
VUS9
35
Pathogenic
1
Likely Pathogenic
9
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
35
0
35
Likely Pathogenic
0
0
1
0
1
VUS
0
6
3
0
9
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total0639045

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

HSPE1 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Identification and construction of a novel NET-related gene signature for predicting prognosis in multiple myeloma.
Yan H et al.·Clin Exp Med
2025
Unravelling the Role of Trophoblastic-Derived Extracellular Vesicles in Regulatory T Cell Differentiation.
Kovács ÁF et al.·Int J Mol Sci
2019
Deciphering the lactylation landscape in glioma: a novel gene signature predicts patient survival and immunotherapy sensitivity.
Tang X et al.·Front Immunol
2025
Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts.
Rodríguez-Solana P et al.·Int J Mol Sci
2023
Identification of biomarkers for acute leukemia via machine learning-based stemness index.
Zhang Y et al.·Gene
2021
[Transcriptomic Profile of the Trastuzumab-Resistant Breast Cancer Cell Line BT-474].
Shifon SA et al.·Mol Biol (Mosk)
2025
Mitochondria-targeted therapy rescues development and quality of embryos derived from oocytes matured under oxidative stress conditions: a bovine in vitro model.
Marei WFA et al.·Hum Reprod
2019Functional
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
HSPE1 Inhibits Bladder Cancer Ferroptosis via a Glutathione-Dependent Mechanism by Suppressing GPX4.
Cheng J et al.·Am J Mens Health
2024🔓 Open AccessFunctional
HSPE1 enhances aerobic glycolysis to promote progression of lung adenocarcinoma.
Xie T et al.·Mutat Res
2024
The Genetic Selection of HSPD1 and HSPE1 Reduce Inflammation of Liver and Spleen While Restraining the Growth and Development of Skeletal Muscle in Wuzhishan Pigs.
Ren Y et al.·Animals (Basel)
2024🔓 Open Access
Role of human HSPE1 for OPA1 processing independent of HSPD1.
Yeung N et al.·iScience
2023🔓 Open Access
Effects of a Mutation in the HSPE1 Gene Encoding the Mitochondrial Co-chaperonin HSP10 and Its Potential Association with a Neurological and Developmental Disorder.
Bie AS et al.·Front Mol Biosci
2016🔓 Open Access
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools