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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PPID
peptidylprolyl isomerase D
Chromosome 4 · 4q32.1
NCBI Gene: 5481Ensembl: ENSG00000171497.6HGNC: HGNC:9257UniProt: E5KN55
101PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
peptidyl-prolyl cis-trans isomerase activityprotein bindingtranscription factor bindingcytoplasmfrozen shouldergallbladder diseaseneoplasmdiabetes mellitus
✦AI Summary

PPID (peptidylprolyl isomerase D), also known as cyclophilin 40 or Cyp40, is a stress-induced cytosolic chaperone that functions as a peptidyl-prolyl cis-trans isomerase involved in protein folding and mitochondrial regulation 1. Structurally, PPID possesses tetratricopeptide repeats that confer specificity for substrate binding, particularly the mitochondrial import receptor TOM70 2. The primary mechanism involves PPID-mediated insertion of outer mitochondrial membrane (OMM) proteins and regulation of mitochondrial calcium homeostasis through cyclophilin D (CypD) activity at the mitochondrial permeability transition pore (mPTP) 3. PPID plays a critical role in transient mPTP opening events essential for calcium efflux in stressed cells 3. Disease relevance is substantial. PPID dysfunction contributes to acute pancreatitis through mitochondrial calcium overload and impaired autophagy 4. In inflammatory bowel disease, PPID variants regulate macrophage mitochondrial membrane potential 5. Recently, PPID was identified as a tier 1 therapeutic target for acne, rosacea, and urticaria in proteome-wide association studies 6. Additionally, PPID inhibition has senolytics potential, promoting selective death of senescent cells through mitochondrial calcium accumulation 3. Clinically, PPID represents a promising intervention target for metabolic diseases affecting thermogenesis and body weight regulation 2, as well as age-related diseases characterized by senescent cell accumulation.

Sources cited
1
PPID (cyclophilin 40) gene structure, nucleotide sequence, chromosome 4 location, and evolutionary conservation
PMID: 8812478
2
PPID chaperone-mediated insertion of TOM70 at OMM, PPIase activity role in thermogenesis and body weight control
PMID: 39753947
3
PPID/cyclophilin D regulation of mitochondrial permeability transition pore, calcium homeostasis, and senescent cell survival
PMID: 39448884
4
PPID role in mitochondrial dysfunction, autophagy, and acute pancreatitis pathogenesis
PMID: 29074451
5
PPIF/PPID involvement in IBD through enhancer regulation affecting macrophage mitochondrial function
PMID: 33828297
6
PPID identified as tier 1 therapeutic target for acne, rosacea, and urticaria
PMID: 40042804
Disease Associationsⓘ20
frozen shoulderOpen Targets
0.27Weak
gallbladder diseaseOpen Targets
0.27Weak
neoplasmOpen Targets
0.09Suggestive
diabetes mellitusOpen Targets
0.08Suggestive
melanomaOpen Targets
0.08Suggestive
posterior cortical atrophyOpen Targets
0.07Suggestive
myocardial infarctionOpen Targets
0.07Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.07Suggestive
health study participationOpen Targets
0.07Suggestive
Alzheimer diseaseOpen Targets
0.07Suggestive
X-linked adrenoleukodystrophyOpen Targets
0.06Suggestive
anaplastic large cell lymphomaOpen Targets
0.06Suggestive
hepatocellular carcinomaOpen Targets
0.06Suggestive
hypertensionOpen Targets
0.05Suggestive
Abnormality of the skeletal systemOpen Targets
0.05Suggestive
Hepatic fibrosisOpen Targets
0.05Suggestive
experimental autoimmune encephalomyelitisOpen Targets
0.04Suggestive
ischemiaOpen Targets
0.04Suggestive
major depressive disorderOpen Targets
0.04Suggestive
smoking cessationOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
VDAC1Protein interaction100%TP53Protein interaction99%PTGES3Protein interaction99%STIP1Protein interaction98%AHSA1Protein interaction97%VDAC3Protein interaction96%
Tissue Expression6 tissues
Liver
100%
Heart
88%
Brain
51%
Bone Marrow
37%
Ovary
32%
Lung
32%
Gene Interaction Network
Click a node to explore
PPIDVDAC1TP53PTGES3STIP1AHSA1VDAC3
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q08752
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.30LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.99 [0.77–1.30]
RankingsWhere PPID stands among ~20K protein-coding genes
  • #4,737of 20,598
    Most Researched101 · top quartile
  • #13,710of 17,882
    Most Constrained (LOEUF)1.30
Genes detectedPPID
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genome-wide enhancer maps link risk variants to disease genes.
PMID: 33828297
Nature · 2021
1.00
2
Editorial.
PMID: 35049327
J Pers Soc Psychol · 2022
0.90
3
A human gut bacterium antagonizes neighboring bacteria by altering their protein-folding ability.
PMID: 39909037
Cell Host Microbe · 2025
0.80
4
Chaperone-mediated insertion of mitochondrial import receptor TOM70 protects against diet-induced obesity.
PMID: 39753947
Nat Cell Biol · 2025
0.70
5
Cyclophilin D plays a critical role in the survival of senescent cells.
PMID: 39448884
EMBO J · 2024
0.60