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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PPM1L
protein phosphatase, Mg2+/Mn2+ dependent 1L
Chromosome 3 · 3q25.33-q26.1
NCBI Gene: 151742Ensembl: ENSG00000163590.14HGNC: HGNC:16381UniProt: Q5SGD2
24PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular exosomeprotein serine/threonine phosphatase activitysignal transductionendoplasmic reticulum membraneimmune system diseaseAbruptio Placentaehypertensionovarian neoplasm
✦AI Summary

PPM1L (protein phosphatase, Mg2+/Mn2+ dependent 1L) is a serine/threonine phosphatase belonging to the metal-dependent PP2C phosphatase family 1. As a PP2C family member, PPM1L binds manganese/magnesium ions in its active center and functions as a single subunit enzyme involved in regulating diverse cellular functions 1. PPM1L encodes an endoplasmic reticulum (ER) membrane-targeted phosphatase (PP2Ce) with specific activity toward the inositol-requiring protein-1 (IRE1), a key regulator of ER stress responses 2. Through IRE1 dephosphorylation, PPM1L modulates downstream ER stress signaling, including expression of XBP-1, CHOP, and BiP 2. PPM1L is essential for normal adipocyte maturation, with genetic variation associated with human lipid profiles 2. Dysregulation of PPM1L has been implicated in multiple pathological conditions: obesity and metabolic abnormalities 2, altered folliculogenesis in adiposity 3, and non-small-cell lung cancer, where reduced PPM1L expression correlates with aggressive features including metastasis and higher tumor stages 4. Additionally, PPM1L appears as a potential regulator of phosphorylated MAP2 in schizophrenia pathogenesis 5. These findings position PPM1L as a critical metabolic regulator with significant clinical relevance in metabolic disorders and cancer.

Sources cited
1
PPM1L is a PP2C phosphatase family member that binds Mn2+/Mg2+ ions and functions as single subunit enzyme regulating cell proliferation, differentiation, and stress responses
PMID: 32650009
2
PPM1L encodes an ER membrane-targeted phosphatase (PP2Ce) with specific activity toward IRE1 phosphorylation, regulates ER stress response genes (XBP-1, CHOP, BiP), is necessary for adipocyte maturation, and genetic variation associates with human lipid profiles
PMID: 24327956
3
PPM1L is downregulated in non-small-cell lung cancer and decreased levels correlate with aggressive features including lymph node metastasis, distant metastasis, and higher tumor stages
PMID: 37793583
4
PPM1L is upregulated in cumulus granulosa cells from obese women and upregulation suggests adiposity induces abnormal metabolic follicular environment affecting folliculogenesis and oocyte quality
PMID: 25676576
5
PPM1L is nominated as a regulator of phosphorylated MAP2 abundance and potential therapeutic target in schizophrenia
PMID: 39532265
6
PPM1L is a validated target of hsa-miR-21-5p and involved in processes relevant to exercise response including immune function and apoptosis
PMID: 24219008
Disease Associationsⓘ20
immune system diseaseOpen Targets
0.28Weak
Abruptio PlacentaeOpen Targets
0.28Weak
hypertensionOpen Targets
0.27Weak
ovarian neoplasmOpen Targets
0.27Weak
cervical carcinomaOpen Targets
0.26Weak
Abnormality of the skeletal systemOpen Targets
0.25Weak
ApneaOpen Targets
0.20Weak
Abnormal nasolacrimal system morphologyOpen Targets
0.18Weak
ovarian dysfunctionOpen Targets
0.18Weak
ocular hypotensionOpen Targets
0.08Suggestive
MODYOpen Targets
0.06Suggestive
coronary artery disease, autosomal dominant 2Open Targets
0.06Suggestive
metabolic syndromeOpen Targets
0.05Suggestive
obesity due to melanocortin 4 receptor deficiencyOpen Targets
0.05Suggestive
coronary artery diseaseOpen Targets
0.05Suggestive
hypoinsulinemic hypoglycemia and body hemihypertrophyOpen Targets
0.05Suggestive
PLIN1-related familial partial lipodystrophyOpen Targets
0.04Suggestive
spinocerebellar ataxia type 23Open Targets
0.04Suggestive
familial partial lipodystrophy, Kobberling typeOpen Targets
0.04Suggestive
Familial partial lipodystrophy, Köbberling typeOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LACTBProtein interaction89%VAPBProtein interaction82%VAPAProtein interaction82%AANATProtein interaction75%PPP5CProtein interaction71%ORMDL2Shared pathway33%
Tissue Expression6 tissues
Brain
100%
Heart
53%
Lung
18%
Bone Marrow
17%
Liver
15%
Ovary
10%
Gene Interaction Network
Click a node to explore
PPM1LLACTBVAPBVAPAAANATPPP5CORMDL2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q5SGD2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.62LoF Tolerant
pLIⓘ
0.47Tolerant
Observed/Expected LoF0.39 [0.26–0.62]
RankingsWhere PPM1L stands among ~20K protein-coding genes
  • #13,280of 20,598
    Most Researched24
  • #4,387of 17,882
    Most Constrained (LOEUF)0.62 · top quartile
Genes detectedPPM1L
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Metal-dependent Ser/Thr protein phosphatase PPM family: Evolution, structures, diseases and inhibitors.
PMID: 32650009
Pharmacol Ther · 2020
1.00
2
Integrative RNA profiling of TBEV-infected neurons and astrocytes reveals potential pathogenic effectors.
PMID: 35685361
Comput Struct Biotechnol J · 2022
0.90
3
A circRNA-based ceRNA network shows its diagnostic value in non-small-cell lung cancer.
PMID: 37793583
Clin Biochem · 2023
0.80
4
Dynamically regulated miRNA-mRNA networks revealed by exercise.
PMID: 24219008
BMC Physiol · 2013
0.70
5
Adiposity Alters Genes Important in Inflammation and Cell Cycle Division in Human Cumulus Granulosa Cell.
PMID: 25676576
Reprod Sci · 2015
0.60