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 neuronal populations. Studies in Xenopus oocytes suggest that this protein alone and in combination with pannexin 2 may form cell t... See more...

Aliases for PANX1 Gene

Aliases for PANX1 Gene

  • Pannexin 1 2 3 5
  • MRS1 2 3 4
  • Pannexin-1 3 4
  • Innexin 2 3
  • UNQ2529 2 3
  • PX1 2 3
  • OOMD7 3
  • PANX1 5

External Ids for PANX1 Gene

Previous GeneCards Identifiers for PANX1 Gene

  • GC11P096192
  • GC11P095369
  • GC11P094046
  • GC11P093550
  • GC11P093501
  • GC11P093862
  • GC11P089937

Summaries for PANX1 Gene

Entrez Gene Summary for PANX1 Gene

  • 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 neuronal populations. Studies in Xenopus oocytes suggest that this protein alone and in combination with pannexin 2 may form cell type-specific gap junctions with distinct properties. [provided by RefSeq, Jul 2008]

GeneCards Summary for PANX1 Gene

PANX1 (Pannexin 1) is a Protein Coding gene. Diseases associated with PANX1 include Oocyte Maturation Defect 7 and Ischemia. Among its related pathways are Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways and Transmission across Electrical Synapses. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and actin binding. An important paralog of this gene is PANX3.

UniProtKB/Swiss-Prot Summary for PANX1 Gene

  • Structural component of the gap junctions and the hemichannels involved in the ATP release and nucleotide permeation (PubMed:16908669, PubMed:20829356, PubMed:30918116). May play a role as a Ca(2+)-leak channel to regulate ER Ca(2+) homeostasis (PubMed:16908669). Plays a critical role in oogenesis (PubMed:30918116).

Tocris Summary for PANX1 Gene

  • Gap channels (gap junctions) are specialized cell-cell contacts that provide direct intracellular communication. They allow passive diffusion of molecules up to 1 kDa, including nutrients, metabolites (glucose), ions (K+, Ca2+) and second messengers (IP3, cAMP).

No data available for CIViC Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PANX1 Gene

Genomics for PANX1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PANX1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PANX1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PANX1

Top Transcription factor binding sites by QIAGEN in the PANX1 gene promoter:
  • AML1a
  • E47
  • HNF-3beta
  • IRF-1
  • ITF-2
  • POU6F1 (c2)
  • RP58
  • STAT5A
  • Tal-1
  • Tal-1beta

Genomic Locations for PANX1 Gene

Genomic Locations for PANX1 Gene
chr11:94,128,841-94,185,596
(GRCh38/hg38)
Size:
56,756 bases
Orientation:
Plus strand
chr11:93,862,094-93,915,138
(GRCh37/hg19)
Size:
53,045 bases
Orientation:
Plus strand

Genomic View for PANX1 Gene

Genes around PANX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PANX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PANX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PANX1 Gene

Proteins for PANX1 Gene

  • Protein details for PANX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96RD7-PANX1_HUMAN
    Recommended name:
    Pannexin-1
    Protein Accession:
    Q96RD7
    Secondary Accessions:
    • O75968
    • Q543A0
    • Q6UW26
    • Q96AM9
    • Q96L77
    • Q96RS5

    Protein attributes for PANX1 Gene

    Size:
    426 amino acids
    Molecular mass:
    48050 Da
    Quaternary structure:
    • Homohexamer. Forms homomeric or PANX1/PANX2-heteromeric intercellular channels on coexpression in paired Xenopus oocytes (By similarity).

    Three dimensional structures from OCA and Proteopedia for PANX1 Gene

    Alternative splice isoforms for PANX1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PANX1 Gene

Post-translational modifications for PANX1 Gene

  • S-nitrosylation inhibits channel currents and ATP release.
  • N-glycosylation may play a role in cell surface targeting (By similarity). Exists in three glycosylation states: non-glycosylated (GLY0), high-mannose glycosylated (GLY1), and fully mature glycosylated (GLY2) (PubMed:30918116).
  • Glycosylation at Asn255
  • Modification sites at PhosphoSitePlus

Other Protein References for PANX1 Gene

No data available for DME Specific Peptides for PANX1 Gene

Domains & Families for PANX1 Gene

Gene Families for PANX1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for PANX1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PANX1 Gene

GenScript: Design optimal peptide antigens:
  • Pannexin 1 (B6ETL5_HUMAN)
  • Pannexin-1 (PANX1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96RD7

UniProtKB/Swiss-Prot:

PANX1_HUMAN :
  • Belongs to the pannexin family.
Family:
  • Belongs to the pannexin family.
genes like me logo Genes that share domains with PANX1: view

Function for PANX1 Gene

Molecular function for PANX1 Gene

UniProtKB/Swiss-Prot Function:
Structural component of the gap junctions and the hemichannels involved in the ATP release and nucleotide permeation (PubMed:16908669, PubMed:20829356, PubMed:30918116). May play a role as a Ca(2+)-leak channel to regulate ER Ca(2+) homeostasis (PubMed:16908669). Plays a critical role in oogenesis (PubMed:30918116).

Phenotypes From GWAS Catalog for PANX1 Gene

Gene Ontology (GO) - Molecular Function for PANX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IEA --
GO:0003779 actin binding IEA --
GO:0005102 signaling receptor binding IPI 17036048
GO:0005198 structural molecule activity ISS --
GO:0005243 gap junction channel activity IEA --
genes like me logo Genes that share ontologies with PANX1: view
genes like me logo Genes that share phenotypes with PANX1: view

Human Phenotype Ontology for PANX1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PANX1 Gene

MGI Knock Outs for PANX1:
  • Panx1 Panx1<tm1.1Fama>
  • Panx1 Panx1<tm1.1Vshe>
  • Panx1 Panx1<tm1a(KOMP)Wtsi>
  • Panx1 Panx1<tm1.2Vmd>
  • Panx1 Panx1<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PANX1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PANX1 Gene

Localization for PANX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PANX1 Gene

Cell membrane. Multi-pass membrane protein. Cell junction, gap junction. Endoplasmic reticulum membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PANX1 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
extracellular 3
cytosol 3
cytoskeleton 2
mitochondrion 2
nucleus 2
endosome 2
lysosome 2
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PANX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA,IDA 16908669
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005886 plasma membrane TAS --
GO:0005921 gap junction IEA --
GO:0016020 membrane IEA,HDA 19946888
genes like me logo Genes that share ontologies with PANX1: view

Pathways & Interactions for PANX1 Gene

genes like me logo Genes that share pathways with PANX1: view

Pathways by source for PANX1 Gene

2 Cell Signaling Technology pathways for PANX1 Gene

Gene Ontology (GO) - Biological Process for PANX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002931 response to ischemia IEA --
GO:0006811 ion transport IEA --
GO:0006812 cation transport IBA,IDA 17036048
GO:0006816 calcium ion transport IMP 16908669
GO:0007267 cell-cell signaling IBA 21873635
genes like me logo Genes that share ontologies with PANX1: view

No data available for SIGNOR curated interactions for PANX1 Gene

Drugs & Compounds for PANX1 Gene

(11) Drugs for PANX1 Gene - From: DrugBank, ClinicalTrials, ApexBio, DGIdb, IUPHAR, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Flufenamic acid Approved Pharma Channel blocker, Inhibitor, Pore Blocker, Antagonist Calcium-activated chloride channel blocker; NSAID. Also activates TRPC6 0
Probenecid Approved, Investigational Pharma Inhibitor, Inhibition, Activator, Target, antagonist 40
Carbenoxolone Experimental Pharma Inhibitor 0
10Panx Pharma Panx-1 mimetic inhibitor, Panx-1 mimetic inhibitory peptide; blocks pannexin-1 gap junctions 0
Scrambled 10Panx Pharma Panx-1 mimetic inhibitory peptide, blocks pannexin-1 gap junctions, Scrambled version of 10Panx (Cat. No. 3348), Panx-1 mimetic inhibitory peptide 0

(5) Tocris Compounds for PANX1 Gene

Compound Action Cas Number
10Panx Panx-1 mimetic inhibitory peptide; blocks pannexin-1 gap junctions 955091-53-9
Carbenoxolone disodium Gap junction blocker. Also inhibitor of 11 beta-hydroxysteroid dehydrogenase 7421-40-1
Gap 26 Gap junction blocker; inhibits smooth muscle contraction and IP3-mediated ATP release 197250-15-0
Gap 27 Selective gap junction blocker 198284-64-9
Scrambled 10Panx Scrambled version of 10Panx (Cat. No. 3348), Panx-1 mimetic inhibitory peptide 1315378-72-3

(2) ApexBio Compounds for PANX1 Gene

Compound Action Cas Number
10Panx Panx-1 mimetic inhibitor 955091-53-9
Scrambled 10Panx Panx-1 mimetic inhibitory peptide, blocks pannexin-1 gap junctions 1315378-72-3
genes like me logo Genes that share compounds with PANX1: view

Drug Products

Transcripts for PANX1 Gene

mRNA/cDNA for PANX1 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PANX1

Alternative Splicing Database (ASD) splice patterns (SP) for PANX1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c
SP1:
SP2: -

Relevant External Links for PANX1 Gene

GeneLoc Exon Structure for
PANX1

Expression for PANX1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PANX1 Gene

Protein differential expression in normal tissues from HIPED for PANX1 Gene

This gene is overexpressed in Pancreas (18.0), Plasma (17.6), Peripheral blood mononuclear cells (10.5), Bone marrow mesenchymal stem cell (8.9), and Fetal Brain (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PANX1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PANX1

SOURCE GeneReport for Unigene cluster for PANX1 Gene:

Hs.591976

mRNA Expression by UniProt/SwissProt for PANX1 Gene:

Q96RD7-PANX1_HUMAN
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).

Evidence on tissue expression from TISSUES for PANX1 Gene

  • Bone(4.4)
  • Nervous system(3.7)
  • Heart(3)
  • Muscle(3)
  • Liver(2.8)
  • Blood(2.8)
  • Skin(2.8)
  • Spleen(2.7)
  • Kidney(2.7)
  • Lung(2.6)
  • Intestine(2.6)
  • Lymph node(2.2)
  • Eye(2.1)
genes like me logo Genes that share expression patterns with PANX1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PANX1 Gene

Orthologs for PANX1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PANX1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PANX1 30 31
  • 99.37 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PANX1 30 31
  • 85.14 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PANX1 30 31
  • 83.85 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Panx1 30 17 31
  • 83.84 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Panx1 30
  • 82.51 (n)
Oppossum
(Monodelphis domestica)
Mammalia PANX1 31
  • 80 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PANX1 31
  • 76 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PANX1 31
  • 67 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PANX1 31
  • 66 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia panx1 30
  • 66.82 (n)
Str.14956 30
Zebrafish
(Danio rerio)
Actinopterygii panx1a 30 31
  • 59.47 (n)
OneToMany
panx1b 31
  • 56 (a)
OneToMany
zgc55631 30
Species where no ortholog for PANX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for PANX1 Gene

ENSEMBL:
Gene Tree for PANX1 (if available)
TreeFam:
Gene Tree for PANX1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PANX1: view image

Paralogs for PANX1 Gene

Paralogs for PANX1 Gene

(1) SIMAP similar genes for PANX1 Gene using alignment to 2 proteins:

  • PANX1_HUMAN
  • B6ETL5_HUMAN
genes like me logo Genes that share paralogs with PANX1: view

Variants for PANX1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PANX1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
689421 Pathogenic: OOCYTE MATURATION DEFECT 7 94,180,230(+) C/T NONSENSE
689422 Pathogenic: OOCYTE MATURATION DEFECT 7 94,180,096(+) G/C MISSENSE_VARIANT
689423 Pathogenic: OOCYTE MATURATION DEFECT 7 94,180,092(+) A/G MISSENSE_VARIANT
689424 Pathogenic: OOCYTE MATURATION DEFECT 7 94,129,365(+) AGGAGCCCAC/A INFRAME_DELETION
725136 Likely Benign: not provided 94,129,411(+) T/C SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for PANX1 Gene

Structural Variations from Database of Genomic Variants (DGV) for PANX1 Gene

Variant ID Type Subtype PubMed ID
esv2656589 CNV deletion 23128226
esv2674143 CNV deletion 23128226
esv2744929 CNV deletion 23290073
esv3548180 CNV deletion 23714750
esv3579855 CNV loss 25503493
esv3627310 CNV gain 21293372
esv3627311 CNV loss 21293372
esv3627312 CNV gain 21293372
esv3627313 CNV gain 21293372
esv3627314 CNV loss 21293372
esv3892071 CNV loss 25118596
esv989619 CNV deletion 20482838
nsv1046092 CNV loss 25217958
nsv468795 CNV loss 19166990
nsv469980 CNV loss 18288195
nsv508651 CNV deletion 20534489
nsv517664 CNV loss 19592680
nsv523082 CNV gain 19592680
nsv555966 CNV loss 21841781

Variation tolerance for PANX1 Gene

Residual Variation Intolerance Score: 32.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.55; 72.12% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PANX1 Gene

Human Gene Mutation Database (HGMD)
PANX1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PANX1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PANX1 Gene

Disorders for PANX1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for PANX1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
oocyte maturation defect 7
  • oomd7
ischemia
  • acute coronary syndrome
jejunoileitis
gout
  • articular gout
oculodentodigital dysplasia
  • oddd
- elite association - COSMIC cancer census association via MalaCards
Search PANX1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PANX1_HUMAN
  • Oocyte maturation defect 7 (OOMD7) [MIM:618550]: An autosomal dominant infertility disorder due to oocyte degeneration and death, which may occur before or after fertilization. {ECO:0000269 PubMed:20829356, ECO:0000269 PubMed:30918116}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PANX1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with PANX1: view

No data available for Genatlas for PANX1 Gene

Publications for PANX1 Gene

  1. Functional implications of calcium permeability of the channel formed by pannexin 1. (PMID: 16908669) Vanden Abeele F … Prevarskaya N (The Journal of cell biology 2006) 3 4 23
  2. The mammalian pannexin family is homologous to the invertebrate innexin gap junction proteins. (PMID: 15028292) Baranova A … Panchin Y (Genomics 2004) 3 4 23
  3. Pannexins, a family of gap junction proteins expressed in brain. (PMID: 14597722) Bruzzone R … Monyer H (Proceedings of the National Academy of Sciences of the United States of America 2003) 2 3 23
  4. A pannexin 1 channelopathy causes human oocyte death. (PMID: 30918116) Sang Q … Wang L (Science translational medicine 2019) 3 4
  5. A Germline Variant in the PANX1 Gene Has Reduced Channel Function and Is Associated with Multisystem Dysfunction. (PMID: 27129271) Shao Q … Laird DW (The Journal of biological chemistry 2016) 3 4

Products for PANX1 Gene

  • Signalway ELISA kits for PANX1
  • Signalway Proteins for PANX1

Sources for PANX1 Gene