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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PANX1
pannexin 1
Chromosome 11 Β· 11q21
NCBI Gene: 24145Ensembl: ENSG00000110218.10HGNC: HGNC:8599UniProt: Q96RD7
175PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
ATP transportpositive regulation of interleukin-1 beta productionATP transmembrane transporter activityprotein bindingoocyte maturation defect 7hypothyroidismAbnormality of the liverfemale infertility due to oocyte meiotic arrest
✦AI Summary

PANX1 encodes pannexin 1, a large-pore channel protein with diverse cellular functions and disease associations. The protein primarily functions as an ATP efflux channel at the plasma membrane, facilitating the regulated release of molecules and ions smaller than 1 kDa, including ATP and UTP 1. During apoptosis, caspase-mediated opening of PANX1 channels enables selective metabolite release that modulates neighboring cell responses, including suppression of inflammation and wound healing 1. PANX1 also operates as a calcium leak channel within the endoplasmic reticulum at ER-mitochondria contact sites, leading to mitochondrial calcium overload and cellular senescence 2. In hepatic metabolism, PANX1-mediated ATP release activates the Akt-FOXO1 pathway to suppress gluconeogenesis and inhibits lipogenesis through calmodulin-JNK signaling 3. Disease associations include oocyte/embryo maturation arrest, with PANX1 mutations identified as causes of reproductive failure 4. Additionally, de novo PANX1 variants are associated with polymicrogyria, a cortical malformation causing epilepsy and developmental deficits 5. In kidney disease, PANX1 promotes cellular senescence and fibrosis following acute injury, making it a potential therapeutic target 2. The protein shows species-specific activation differences, with human variants exhibiting altered channel properties compared to mouse orthologs 6.

Sources cited
1
PANX1 functions as ATP efflux channel during apoptosis, enabling selective metabolite release
PMID: 32238926
2
PANX1 acts as ER calcium leak channel promoting cellular senescence and kidney fibrosis
PMID: 40825974
3
PANX1-mediated ATP release regulates hepatic gluconeogenesis and lipogenesis
PMID: 38937853
4
PANX1 mutations cause oocyte/embryo maturation arrest and reproductive failure
PMID: 33895934
5
De novo PANX1 variants associated with polymicrogyria cortical malformation
PMID: 37486637
6
Species-specific differences in PANX1 activation properties between human and mouse
PMID: 38100403
Disease Associationsβ“˜21
oocyte maturation defect 7Open Targets
0.49Moderate
hypothyroidismOpen Targets
0.43Moderate
Abnormality of the liverOpen Targets
0.38Weak
female infertility due to oocyte meiotic arrestOpen Targets
0.37Weak
autoimmune thyroid diseaseOpen Targets
0.33Weak
thyroid diseaseOpen Targets
0.33Weak
paralytic strabismusOpen Targets
0.26Weak
alcohol drinkingOpen Targets
0.13Weak
neoplasmOpen Targets
0.11Weak
cervical carcinomaOpen Targets
0.11Weak
melanomaOpen Targets
0.11Weak
breast cancerOpen Targets
0.10Suggestive
experimental autoimmune encephalomyelitisOpen Targets
0.10Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
acute kidney injuryOpen Targets
0.09Suggestive
SepsisOpen Targets
0.09Suggestive
cancerOpen Targets
0.09Suggestive
COVID-19Open Targets
0.09Suggestive
subarachnoid hemorrhageOpen Targets
0.08Suggestive
Alzheimer diseaseOpen Targets
0.08Suggestive
Oocyte/zygote/embryo maturation arrest 7UniProt
Pathogenic Variants4
NM_015368.4(PANX1):c.1174C>T (p.Gln392Ter)Pathogenic
Oocyte maturation defect 7
β˜†β˜†β˜†β˜†2023β†’ Residue 392
NM_015368.4(PANX1):c.1040G>C (p.Cys347Ser)Pathogenic
Oocyte maturation defect 7
β˜†β˜†β˜†β˜†2023β†’ Residue 347
NM_015368.4(PANX1):c.1036A>G (p.Lys346Glu)Pathogenic
Oocyte maturation defect 7
β˜†β˜†β˜†β˜†2023β†’ Residue 346
NM_015368.4(PANX1):c.62_70del (p.Thr21_Pro23del)Pathogenic
Oocyte maturation defect 7
β˜†β˜†β˜†β˜†2023β†’ Residue 21
View on ClinVar β†—
Related Genes
CASP1Protein interaction84%CASP7Protein interaction83%GJA1Protein interaction82%CASP3Protein interaction82%MRS2Protein interaction77%P2RX1Protein interaction77%
Tissue Expression6 tissues
Brain
100%
Heart
87%
Lung
83%
Liver
74%
Ovary
46%
Bone Marrow
30%
Gene Interaction Network
Click a node to explore
PANX1CASP1CASP7GJA1CASP3MRS2P2RX1
PROTEIN STRUCTURE
Preparing viewer…
PDB6WBF Β· 2.83 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.98LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.70 [0.51–0.98]
RankingsWhere PANX1 stands among ~20K protein-coding genes
  • #2,508of 20,598
    Most Researched175 Β· top quartile
  • #3,706of 5,498
    Most Pathogenic Variants4
  • #9,382of 17,882
    Most Constrained (LOEUF)0.98
Genes detectedPANX1
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Genetic factors as potential molecular markers of human oocyte and embryo quality.
PMID: 33895934
J Assist Reprod Genet Β· 2021
1.00
2
PANX1-mediated ATP release confers FAM3A's suppression effects on hepatic gluconeogenesis and lipogenesis.
PMID: 38937853
Mil Med Res Β· 2024
0.90
3
Metabolites released from apoptotic cells act as tissue messengers.
PMID: 32238926
Nature Β· 2020
0.80
4
Neuronal Panx1 drives peripheral sensitization in experimental plantar inflammatory pain.
PMID: 38685116
Mil Med Res Β· 2024
0.76
5
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
PMID: 37486637
JAMA Neurol Β· 2023
0.70