HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
HSPE1
heat shock protein family E (Hsp10) member 1
Chromosome 2 · 2q33.1
NCBI Gene: 3336Ensembl: ENSG00000115541.12HGNC: HGNC:5269UniProt: A0A384N6A4
179PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
osteoblast differentiationRNA bindingmitochondrionmembraneneurodegenerative diseaseschizophreniabipolar disorderEczematoid dermatitis
✦AI Summary

HSPE1 (heat shock protein family E member 1) is a mitochondrial co-chaperonin that functions primarily in protein quality control and mitochondrial dynamics. As a co-chaperonin partner with HSPD1 (Hsp60), HSPE1 facilitates the proper folding of imported mitochondrial proteins and prevents misfolding under stress conditions 1. The functional mechanism involves formation of heptameric ring complexes with Hsp60 that sequester unfolded substrate proteins in a protected cavity, allowing ATP-dependent refolding cycles [UniProt annotation]. Critically, HSPE1 exhibits disease-specific roles beyond canonical chaperone function. In cancer progression, HSPE1 is upregulated and promotes tumor development through multiple mechanisms: in osteosarcoma, HSPE1 knockdown reduced cell proliferation, migration, and tumorigenicity 2; in lung adenocarcinoma, HSPE1 enhanced aerobic glycolysis to promote progression 3; in bladder cancer, HSPE1 inhibited ferroptosis via glutathione-dependent suppression of GPX4 4. Conversely, in heart failure, HSPE1 is downregulated as part of broader mitochondrial quality control dysfunction 5. Notably, HSPE1 independently controls mitochondrial morphology through OPA1 processing via stress-activated OMA1 proteolysis, distinct from its chaperonin activities 1. In Down syndrome and Kawasaki disease, dysregulated HSPE1 expression correlates with pathological development 67. HSPE1 represents a promising therapeutic target across multiple malignancies and mitochondrial diseases.

Sources cited
1
HSPE1 is highly expressed in osteosarcoma tissues; HSPE1 knockdown reduces cell migration, proliferation, metastasis and increases apoptosis; HSPE1 represents a novel therapeutic target for osteosarcoma
PMID: 41508023
2
HSPE1 is downregulated in heart failure from both ischemic and dilated cardiomyopathy patients, indicating defects in mitochondrial quality control
PMID: 37403271
3
HSPE1 depletion causes mitochondrial fragmentation through OMA1-mediated OPA1 cleavage, a mechanism independent of HSPD1; HSPE1 controls mitochondrial morphology through a mechanism separate from its chaperonin activity
PMID: 36818283
4
HSPE1 shows altered expression in Down syndrome transcriptomes and may be associated with early-onset Alzheimer's disease in Down syndrome
PMID: 40959651
5
HSPE1 shows elevated expression in early cell development stages of Kawasaki disease patients before treatment, accompanying abnormal immune development
PMID: 39507528
6
HSPE1 is significantly elevated in bladder cancer tissues and cells; HSPE1 inhibits ferroptosis by promoting GPX4 expression and glutathione accumulation, enhancing cancer cell survival
PMID: 39688244
7
HSPE1 promotes lung adenocarcinoma proliferation, migration, and invasion through enhancement of aerobic glycolysis via upregulation of GLUT1, HK2, and LDHA
PMID: 38878504
8
HSPE1 is one of nine genes in a NET-related signature that independently predicts overall survival in multiple myeloma patients
PMID: 40346405
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.53Moderate
schizophreniaOpen Targets
0.18Weak
bipolar disorderOpen Targets
0.11Weak
Eczematoid dermatitisOpen Targets
0.10Suggestive
deep vein thrombosisOpen Targets
0.10Suggestive
major depressive disorderOpen Targets
0.10Suggestive
hypertensionOpen Targets
0.09Suggestive
allergic rhinitisOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.08Suggestive
atrial fibrillationOpen Targets
0.08Suggestive
nasopharyngeal carcinomaOpen Targets
0.08Suggestive
astrocytomaOpen Targets
0.07Suggestive
bladder transitional cell carcinomaOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
Insulin resistanceOpen Targets
0.06Suggestive
autism spectrum disorderOpen Targets
0.06Suggestive
Pancreatic pseudocystOpen Targets
0.05Suggestive
gliomaOpen Targets
0.04Suggestive
intelligenceOpen Targets
0.04Suggestive
lung adenocarcinomaOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HSP90AB1Protein interaction100%HSP90AA1Protein interaction100%GAPDHProtein interaction100%ENO1Protein interaction100%GRPEL1Protein interaction100%HSPA9Protein interaction97%
Tissue Expression6 tissues
Liver
100%
Brain
42%
Ovary
19%
Lung
18%
Heart
18%
Bone Marrow
12%
Gene Interaction Network
Click a node to explore
HSPE1HSP90AB1HSP90AA1GAPDHENO1GRPEL1HSPA9
PROTEIN STRUCTURE
Preparing viewer…
PDB9ES0 · 2.58 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.63LoF Tolerant
pLIⓘ
0.86Intermediate
Observed/Expected LoF0.13 [0.05–0.63]
RankingsWhere HSPE1 stands among ~20K protein-coding genes
  • #2,436of 20,598
    Most Researched179 · top quartile
  • #4,485of 17,882
    Most Constrained (LOEUF)0.63
Genes detectedHSPE1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Single-cell and multi-omics integrative modeling identifies mitochondrial gene HSPE1 as a therapeutic target in osteosarcoma.
PMID: 41508023
J Transl Med · 2026
1.00
2
Heart failure in patients is associated with downregulation of mitochondrial quality control genes.
PMID: 37403271
Eur J Clin Invest · 2023
0.90
3
Role of human HSPE1 for OPA1 processing independent of HSPD1.
PMID: 36818283
iScience · 2023
0.80
4
PMID: 40959651
Dement Neuropsychol · 2025
0.70
5
Deciphering the lactylation landscape in glioma: a novel gene signature predicts patient survival and immunotherapy sensitivity.
PMID: 41035644
Front Immunol · 2025
0.64