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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ZAR1
zygote arrest 1
Chromosome 4 · 4p11
NCBI Gene: 326340Ensembl: ENSG00000182223.7HGNC: HGNC:20436UniProt: B9EG67
20PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmRNA 3'-UTR bindingRNA sequestering activitymolecular condensate scaffold activityNephropathynephritisuterine fibroiddermatological toxicity
✦AI Summary

ZAR1 (zygote arrest 1) is a maternal mRNA-binding protein essential for female fertility and the oocyte-to-embryo transition. Functionally, ZAR1 mediates formation of MARDO (mitochondria-associated ribonucleoprotein domain), a membraneless compartment that stores maternal mRNAs in oocytes 1. ZAR1 undergoes liquid-liquid phase separation upon binding to the 3'-UTR of maternal mRNAs, assembling MARDO around mitochondria in response to increased mitochondrial membrane potential during oocyte growth 1. Stored maternal mRNAs in MARDO are translationally repressed, and loss of ZAR1 disrupts this compartment, causing premature mRNA loss and dispersed mitochondrial distribution 1. Beyond mRNA storage, ZAR1 regulates oocyte epigenetic maturation by binding transcripts encoding histone modifiers and controlling their stability and translation, essential for proper zygotic genome activation 2. Clinically, ZAR1 mutations cause primary infertility through defective oocyte maturation and early embryonic arrest 3. Pathogenic variants disrupt either MARDO localization (V118A) or RNA-binding capability (R397Q, S121*), impairing maternal mRNA storage 3. ZAR1 variants contribute significantly to premature ovarian insufficiency (POI) 4, and ZAR1 expression declines with advancing maternal age, correlating with age-related oocyte quality decline 2. Additionally, ZAR1 functions in ovarian somatic cells to suppress apoptosis and mitophagy, with therapeutic potential for POI treatment 5.

Sources cited
1
ZAR1 promotes MARDO formation around mitochondria, stores maternal mRNAs in translationally repressed state, and its loss disrupts the compartment
PMID: 36264786
2
ZAR1 regulates oocyte epigenetic maturation through histone modifier transcript regulation and declines with maternal age
PMID: 39755931
3
ZAR1 pathogenic variants (V118A, R397Q, S121*) cause female infertility by disrupting MARDO localization and RNA-binding capability
PMID: 41420714
4
ZAR1 variants are associated with premature ovarian insufficiency and represent novel POI-associated genes
PMID: 36732629
5
ZAR1 suppresses apoptosis and mitophagy in ovarian granular cells and has potential therapeutic roles in POI
PMID: 40216655
Disease Associationsⓘ20
NephropathyOpen Targets
0.32Weak
nephritisOpen Targets
0.32Weak
uterine fibroidOpen Targets
0.23Weak
dermatological toxicityOpen Targets
0.22Weak
response to radiationOpen Targets
0.22Weak
Uterine leiomyomaOpen Targets
0.12Weak
malnutritionOpen Targets
0.12Weak
COVID-19Open Targets
0.10Suggestive
cancerOpen Targets
0.09Suggestive
thrombophiliaOpen Targets
0.09Suggestive
Female infertility due to fertilization defectOpen Targets
0.09Suggestive
lung cancerOpen Targets
0.08Suggestive
oocyte maturation defect 14Open Targets
0.08Suggestive
oocyte maturation defect 5Open Targets
0.08Suggestive
female infertility due to oocyte meiotic arrestOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.07Suggestive
oocyte maturation defect 13Open Targets
0.07Suggestive
oocyte/zygote/embryo maturation arrest 21Open Targets
0.07Suggestive
premature ovarian failure 19Open Targets
0.07Suggestive
oocyte maturation defect 9Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GDF9Protein interaction97%NLRP5Protein interaction73%ZAR1LShared pathway50%IREB2Shared pathway33%CAPRIN1Shared pathway29%LIAT1Shared pathway25%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
25%
Lung
2%
Ovary
0%
Heart
0%
Liver
0%
Gene Interaction Network
Click a node to explore
ZAR1GDF9NLRP5ZAR1LIREB2CAPRIN1LIAT1
PROTEIN STRUCTURE
Preparing viewer…
PDB9JKO · 1.63 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.65LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.26 [0.98–1.65]
RankingsWhere ZAR1 stands among ~20K protein-coding genes
  • #14,321of 20,598
    Most Researched20
  • #15,881of 17,882
    Most Constrained (LOEUF)1.65
Genes detectedZAR1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Mammalian oocytes store mRNAs in a mitochondria-associated membraneless compartment.
PMID: 36264786
Science · 2022
1.00
2
Landscape of pathogenic mutations in premature ovarian insufficiency.
PMID: 36732629
Nat Med · 2023
0.90
3
ZAR1/2-Regulated Epigenetic Modifications are Essential for Age-Associated Oocyte Quality Maintenance and Zygotic Activation.
PMID: 39755931
Adv Sci (Weinh) · 2025
0.80
4
The ZAR1 protein in cancer; from epigenetic silencing to functional characterisation and epigenetic therapy of tumour suppressors.
PMID: 32828887
Biochim Biophys Acta Rev Cancer · 2020
0.70
5
ZAR1 pathogenic variants disrupt maternal mRNA storage and cause oocyte maturation defects in humans.
PMID: 41420714
Cell Mol Life Sci · 2025
0.60