PANX1 (pannexin 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 24145
Gene name Pannexin 1
Gene symbol PANX1
Synonyms (NCBI Gene)
MRS1OOMD7OZEMA7PX1UNQ2529
Chromosome 11
Chromosome location 11q21
Summary The protein encoded by this gene belongs to the innexin family. Innexin family members are the structural components of gap junctions. This protein and pannexin 2 are abundantly expressed in central nerve system (CNS) and are coexpressed in various neuron
SNPs SNP information provided by dbSNP.
4
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (4)
SNP ID Visualize variation Clinical significance Consequence
rs1212949833 G>C,T Pathogenic Missense variant, coding sequence variant
rs1591499598 CGGAGCCCA>- Pathogenic Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, inframe deletion
rs1591529130 A>G Pathogenic Coding sequence variant, missense variant
rs1591529258 C>T Pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
187
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (187)
miRTarBase ID miRNA Experiments Reference
MIRT001433 hsa-miR-16-5p pSILAC 18668040
MIRT004125 hsa-miR-192-5p Microarray 16822819
MIRT021301 hsa-miR-125a-5p Sequencing 20371350
MIRT025607 hsa-miR-10a-5p Sequencing 20371350
MIRT004125 hsa-miR-192-5p Microarray 19074876
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
55
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (55)
GO ID Ontology Definition Evidence Reference
GO:0002020 Function Protease binding IEA
GO:0002931 Process Response to ischemia IEA
GO:0003779 Function Actin binding IEA
GO:0005102 Function Signaling receptor binding IPI 17036048
GO:0005198 Function Structural molecule activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
608420 8599 ENSG00000110218
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96RD7
Protein name Pannexin-1 (PANX1) [Cleaved into: Caspase-activated pannexin-1 (Caspase-activated PANX1)]
Protein function Ion channel involved in a variety of physiological functions such as blood pressure regulation, apoptotic cell clearance and oogenesis (PubMed:15304325, PubMed:16908669, PubMed:20829356, PubMed:20944749, PubMed:30918116). Forms anion-selective c
PDB 6LTN , 6LTO , 6M02 , 6M66 , 6M67 , 6M68 , 6V6D , 6WBF , 6WBG , 6WBI , 6WBK , 6WBL , 6WBM , 6WBN , 7DWB , 7F8J , 7F8N , 7F8O , 7WSV , 8GTS , 8GTT , 8GYO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00876 Innexin 33 → 263 Innexin Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed (PubMed:30918116). Highest expression is observed in oocytes and brain (PubMed:30918116). Detected at very low levels in sperm cells (PubMed:30918116). {ECO:0000269|PubMed:30918116}.
Sequence 
MAIAQLATEYVFSDFLLKEPTEPKFKGLRLELAVDKMVTCIAVGLPLLLISLAFAQEISI
GTQISCFSPSSFSWRQAAFVDSYCWAAVQQKNSLQSESGNLPLWLHKFFPYILLLFAILL
YLPPLFWRFAAAPHICSDLKFIMEELDKVYNRAIKAAKSARDLDMRDGACSVPGVTENLG
QSLWEVSESHFKYPIVEQYLKTKKNSNNLIIKYISCRLLTLIIILLACIYLGYYFSLSSL
SDEFVCSIKSGILRNDSTVPDQFQCKLIAVGIFQLLSVINLVVYVLLAPVVVYTLFVPFR
QKTDVLKVYEILPTFDVLHFKSEGYNDLSLYNLFLEENISEVKSYKCLKVLENIKSSGQG
IDPMLLLTNLGMIKMDVVDGKTPMSAEMREEQGNQTAELQGMNIDSETKANNGEKNARQR
LLDSSC
Sequence length 426
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Efferocytosis
NOD-like receptor signaling pathway 		  Electric Transmission Across Gap Junctions
The NLRP3 inflammasome
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Oocyte maturation defect 7 Pathogenic rs1591529258, rs1212949833, rs1591529130, rs1591499598 RCV000850135
RCV000850136
RCV000850137
RCV000850138
Show/Hide Unknown Diseases (7)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs2282655 RCV005917954
Cholangiocarcinoma Benign rs2282655, rs11600490 RCV005917957
RCV005922046
Gastric cancer Benign rs11600490 RCV005922044
Lung cancer Benign rs11600490 RCV005922047
Show/Hide Text Mining Associations (41)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Achalasia Addisonianism Alacrimia syndrome Stimulate 35315432
Adenocarcinoma of Lung Associate 38254708
Aortic Aneurysm Stimulate 35315432
Aortic Aneurysm Abdominal Associate 35315432
Breast Neoplasms Associate 33405952
Calcinosis Cutis Inhibit 36833374
Carcinogenesis Associate 35682601
Colorectal Neoplasms Associate 38195677
COVID 19 Stimulate 35091759
Death Associate 35834089, 36248807, 36469255