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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ERP44
endoplasmic reticulum protein 44
Chromosome 9 · 9q31.1
NCBI Gene: 23071Ensembl: ENSG00000023318.10HGNC: HGNC:18311UniProt: A0A384MEE7
121PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein disulfide isomerase activityprotein bindingprotein foldingresponse to unfolded proteincystic kidney diseaseAbnormality of the urinary systemneurodegenerative diseaseskin disease
✦AI Summary

ERP44 is a multifunctional endoplasmic reticulum (ER) chaperone that mediates thiol-dependent protein retention and quality control in the early secretory pathway 1. It forms mixed disulfides with substrate proteins through its conserved CRFS motif, functioning as a key player in "redoxtasis" alongside ER oxidoreductases 2. ERP44 cycles between the ER and Golgi compartments, controlling localization of enzymes lacking suitable retention signals and patrolling secretion of disulfide-linked oligomeric proteins, including adiponectin complexes 31. Its activity is regulated by zinc and pH gradients, with Golgi-resident ZnT transporters tuning ERp44's client-binding and release capacity 4. Beyond quality control, ERP44 inhibits calcium channel activity of the ryanodine receptor RyR2 through redox-sensitive association, with disease-relevant implications in cardiac arrhythmias where Ero1α-mediated dissociation of ERp44 from RyR2 promotes proarrhythmic calcium release 5. ERp44 also regulates selective ER retention of receptor tyrosine kinases during ER stress, competing with PDIA6 to control recovery kinetics 6. In cancer cells, ERp44 inhibition triggers Death Receptor oligomerization and apoptosis 7. Clinical relevance extends to pre-eclampsia, where elevated placental ERp44 expression correlates with altered renin-angiotensin signaling and reduced zinc availability 8.

Sources cited
1
ERp44 cycles between ER and Golgi, controlling enzyme localization and patrolling disulfide-linked oligomeric protein secretion through thiol-mediated quality control
PMID: 33173013
2
ERp44 is a multifunctional chaperone that modulates proteostasis, redoxtasis, and calcium signaling in professional secretory cells
PMID: 25744412
3
ERp44 is involved in assembly and secretion of higher-order adiponectin complexes alongside ER oxidoreductases
PMID: 28635626
4
Golgi-resident ZnT transporters regulate zinc homeostasis to tune ERp44's client binding and release for proteostasis control
PMID: 37160917
5
ERp44 inhibits RyR2 calcium channel activity through redox-sensitive association; Ero1α-mediated ERp44 dissociation promotes cardiac arrhythmias in hypertrophic disease
PMID: 35086342
6
ERp44 promotes selective ER retention of receptor tyrosine kinases during ER stress, competing with PDIA6 in recovery regulation
PMID: 39621446
7
ERp44 is a target of disulfide bond disrupting agents; its inhibition triggers Death Receptor oligomerization and cancer cell apoptosis
PMID: 35247515
8
Elevated placental ERp44 expression in pre-eclampsia correlates with altered renin-angiotensin signaling and reduced zinc availability
PMID: 36848863
Disease Associationsⓘ20
cystic kidney diseaseOpen Targets
0.39Weak
Abnormality of the urinary systemOpen Targets
0.35Weak
neurodegenerative diseaseOpen Targets
0.33Weak
skin diseaseOpen Targets
0.30Weak
response to statinOpen Targets
0.29Weak
urinary system diseaseOpen Targets
0.28Weak
atrial fibrillationOpen Targets
0.21Weak
COVID-19Open Targets
0.19Weak
cardiovascular diseaseOpen Targets
0.13Weak
insomniaOpen Targets
0.12Weak
Chest painOpen Targets
0.11Weak
placenta praeviaOpen Targets
0.10Weak
nasopharyngeal carcinomaOpen Targets
0.09Suggestive
intestinal infectious diseaseOpen Targets
0.07Suggestive
Griscelli diseaseOpen Targets
0.06Suggestive
Griscelli disease type 3Open Targets
0.05Suggestive
Griscelli syndrome type 3Open Targets
0.05Suggestive
acral peeling skin syndromeOpen Targets
0.05Suggestive
Trichodysplasia - xerodermaOpen Targets
0.05Suggestive
trichodysplasia-xeroderma syndromeOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CALRProtein interaction100%PRDX4Protein interaction98%ERO1BProtein interaction98%TXNProtein interaction90%SUMF1Protein interaction87%ZNF385AProtein interaction87%
Tissue Expression6 tissues
Liver
100%
Lung
87%
Heart
80%
Brain
74%
Bone Marrow
70%
Ovary
51%
Gene Interaction Network
Click a node to explore
ERP44CALRPRDX4ERO1BTXNSUMF1ZNF385A
PROTEIN STRUCTURE
Preparing viewer…
PDB5GU6 · 2.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.82LoF Tolerant
pLIⓘ
0.15Tolerant
Observed/Expected LoF0.45 [0.27–0.82]
RankingsWhere ERP44 stands among ~20K protein-coding genes
  • #3,881of 20,598
    Most Researched121 · top quartile
  • #6,889of 17,882
    Most Constrained (LOEUF)0.82
Genes detectedERP44
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Adiponectin, a Therapeutic Target for Obesity, Diabetes, and Endothelial Dysfunction.
PMID: 28635626
Int J Mol Sci · 2017
1.00
2
Ero1α-Dependent ERp44 Dissociation From RyR2 Contributes to Cardiac Arrhythmia.
PMID: 35086342
Circ Res · 2022
0.90
3
The pivotal role of ERp44 in patrolling protein secretion.
PMID: 33173013
J Cell Sci · 2020
0.80
4
Zinc homeostasis governed by Golgi-resident ZnT family members regulates ERp44-mediated proteostasis at the ER-Golgi interface.
PMID: 37160917
Nat Commun · 2023
0.70
5
Proteostasis and "redoxtasis" in the secretory pathway: Tales of tails from ERp44 and immunoglobulins.
PMID: 25744412
Free Radic Biol Med · 2015
0.60