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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PLAGL1
PLAG1 like zinc finger 1
Chromosome 6 · 6q24.2
NCBI Gene: 5325Ensembl: ENSG00000118495.21HGNC: HGNC:9046UniProt: A1YLA1
100PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingRNA polymerase II transcription regulatory region sequence-specific DNA bindingpositive regulation of transcription by RNA polymerase IIDNA-binding transcription activator activity, RNA polymerase II-specifictransient neonatal diabetes mellitusneurodegenerative diseaseadult onset asthmaprotozoa infectious disease
✦AI Summary

PLAGL1 (PLAG1 like zinc finger 1) is a zinc-finger transcription factor that functions as both a transcriptional activator and repressor, playing crucial roles in growth regulation, apoptosis, and development 1. The protein promotes cell cycle arrest and apoptosis through multiple pathways and acts as a growth suppressor 2. PLAGL1 is maternally imprinted and located on chromosome 6-25, a region frequently deleted in human cancers 1. The gene regulates imprinted genes, components of the Wnt/β-catenin pathway, and controls imprinting and differentiation processes 3. PLAGL1 has been identified as a regulator of disease-associated inflammatory states in fibroblasts 4. Clinically, PLAGL1 is associated with transient neonatal diabetes mellitus due to its imprinted status 1. The gene is involved in various pathological processes including metabolic and genetic disorders 2. Recent studies have identified PLAGL1 fusions and amplifications in pediatric CNS tumors, establishing new tumor classifications such as neuroepithelial tumors with PLAGL1 fusion and CNS embryonal tumors with PLAGL amplification 53. PLAGL1 hypomethylation has been associated with very preterm birth, suggesting its role in early development 6.

Sources cited
1
PLAGL1 is a zinc-finger transcription factor, growth suppressor protein, maternally imprinted, and associated with transient neonatal diabetes mellitus
PMID: 17063461
2
PLAGL1 promotes cell cycle arrest and apoptosis through multiple pathways
PMID: 27311313
3
PLAGL1 acts as transcription factor for imprinted genes and Wnt/β-catenin pathway components, and amplification characterizes a novel CNS tumor type
PMID: 36437415
4
PLAGL1 regulates disease-associated inflammatory states in fibroblasts
PMID: 40770575
5
PLAGL1 fusions define a novel methylation class of supratentorial pediatric brain tumors
PMID: 38581034
6
PLAGL1 hypomethylation is associated with very preterm birth
PMID: 30070601
Disease Associationsⓘ21
transient neonatal diabetes mellitusOpen Targets
0.48Moderate
neurodegenerative diseaseOpen Targets
0.35Weak
adult onset asthmaOpen Targets
0.32Weak
protozoa infectious diseaseOpen Targets
0.28Weak
radiation injuryOpen Targets
0.27Weak
myoepithelial tumorOpen Targets
0.11Weak
neoplasmOpen Targets
0.11Weak
cervical cancerOpen Targets
0.07Suggestive
pancreatic adenocarcinomaOpen Targets
0.07Suggestive
glioblastomaOpen Targets
0.06Suggestive
cervical carcinomaOpen Targets
0.05Suggestive
gestational diabetesOpen Targets
0.05Suggestive
Congenital pulmonary alveolar proteinosisOpen Targets
0.05Suggestive
Neonatal acute respiratory distress with surfactant metabolism deficiencyOpen Targets
0.05Suggestive
metabolic syndromeOpen Targets
0.05Suggestive
congenital heart diseaseOpen Targets
0.05Suggestive
hepatocellular carcinomaOpen Targets
0.05Suggestive
pituitary cancerOpen Targets
0.05Suggestive
cancerOpen Targets
0.04Suggestive
pseudoachondroplasiaOpen Targets
0.04Suggestive
Diabetes mellitus, transient neonatal, 1UniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GRB10Protein interaction87%MESTProtein interaction87%NNATProtein interaction87%PEG3Protein interaction87%PEG10Protein interaction87%CDKN1CProtein interaction86%
Tissue Expression6 tissues
Ovary
100%
Lung
69%
Bone Marrow
64%
Heart
48%
Liver
8%
Brain
4%
Gene Interaction Network
Click a node to explore
PLAGL1GRB10MESTNNATPEG3PEG10CDKN1C
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9UM63
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.02LoF Tolerant
pLIⓘ
0.58Intermediate
Observed/Expected LoF0.22 [0.07–1.02]
RankingsWhere PLAGL1 stands among ~20K protein-coding genes
  • #4,798of 20,598
    Most Researched100 · top quartile
  • #9,947of 17,882
    Most Constrained (LOEUF)1.02
Genes detectedPLAGL1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
CNS tumors with PLAGL1-fusion: beyond ZFTA and YAP1 in the genetic spectrum of supratentorial ependymomas.
PMID: 38581034
Acta Neuropathol Commun · 2024
1.00
2
LOT1 (ZAC1/PLAGL1) and its family members: mechanisms and functions.
PMID: 17063461
J Cell Physiol · 2007
0.90
3
PLAGL1: an important player in diverse pathological processes.
PMID: 27311313
J Appl Genet · 2017
0.80
4
Amplification of the PLAG-family genes-PLAGL1 and PLAGL2-is a key feature of the novel tumor type CNS embryonal tumor with PLAGL amplification.
PMID: 36437415
Acta Neuropathol · 2023
0.70
5
Comprehensive transcription factor perturbations recapitulate fibroblast transcriptional states.
PMID: 40770575
Nat Genet · 2025
0.60