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Aliases for PANX1 Gene

Aliases for PANX1 Gene

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

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 Pineal Parenchymal Tumor Of Intermediate Differentiation and Basilar Artery Occlusion. Among its related pathways are Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways and Electric Transmission Across Gap Junctions. GO annotations related to this gene include protein heterodimerization activity and actin binding. An important paralog of this gene is PANX3.

UniProtKB/Swiss-Prot for PANX1 Gene

  • Structural component of the gap junctions and the hemichannels. May play a role as a Ca(2+)-leak channel to regulate ER Ca(2+) homeostasis.

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 , fRNAdb sequence ontologies and piRNA Summary for PANX1 Gene

Genomics for PANX1 Gene

Regulatory Elements for PANX1 Gene

Enhancers for PANX1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G094127 2 FANTOM5 Ensembl ENCODE dbSUPER 24 +3.6 3557 10.4 HDGF PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF143 ZNF207 PANX1 HEPHL1 MED17 FUT4 PIR47114 GC11P094183
GH11G094148 1.5 Ensembl ENCODE dbSUPER 11.7 +22.6 22645 5.6 PKNOX1 FOXA2 ATF1 ZFP64 ARID4B SIN3A FEZF1 YY1 CBX5 FOS HEPHL1 PANX1 SCARNA9 ENSG00000255445 PIR47114 GC11P094183
GH11G094171 0.7 ENCODE 12.7 +43.4 43424 1.2 CTCF MAZ ZNF654 ESRRA HLF TRIM22 ZNF384 REST RAD21 GLIS2 HEPHL1 PANX1 GC11P094183 PIR47114
GH11G094183 1 Ensembl ENCODE 7.2 +55.2 55186 0.6 CTCF CBX3 WRNIP1 TEAD4 MAX RAD21 TEAD3 POLR2A ZNF143 SMC3 GPR83 PANX1 GC11P094183 GC11M094189
GH11G094539 0.9 ENCODE dbSUPER 8 +410.8 410767 1.1 MTA2 ZBED1 NR2F1 JUNB BMI1 DPF2 KLF4 GABPA NR2F2 CBX5 MRE11 ANKRD49 ENSG00000255893 PANX1 FUT4 PIWIL4 C11orf97
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PANX1 on UCSC Golden Path with GeneCards custom track

Promoters for PANX1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000043436 172 1801 HDGF CREB3L1 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF143 ZNF207 FOS

Genomic Location for PANX1 Gene

Chromosome:
11
Start:
94,128,928 bp from pter
End:
94,185,596 bp from pter
Size:
56,669 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).

    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.
  • Glycosylation at posLast=255255
  • Modification sites at PhosphoSitePlus

Other Protein References for PANX1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PANX1 (PANX1)
  • Cloud-Clone Corp. Antibodies for PANX1

No data available for DME Specific Peptides for PANX1 Gene

Domains & Families for PANX1 Gene

Gene Families for PANX1 Gene

HGNC:
IUPHAR :

Protein Domains for PANX1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PANX1 Gene

GenScript: Design optimal peptide antigens:

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. May play a role as a Ca(2+)-leak channel to regulate ER Ca(2+) homeostasis.

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 receptor binding IPI 17036048
GO:0005243 gap junction channel activity IEA --
GO:0005262 calcium channel activity IMP 16908669
genes like me logo Genes that share ontologies with PANX1: view
genes like me logo Genes that share phenotypes with PANX1: view

Animal Models for PANX1 Gene

MGI Knock Outs for PANX1:

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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 2
cytosol 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for PANX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA,IEA 16908669
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005886 plasma membrane TAS --
GO:0005921 gap junction IEA --
GO:0016020 membrane IEA,IDA 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
1 KEGG pathway 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:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006812 cation transport IDA 17036048
GO:0006816 calcium ion transport IMP 16908669
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Probenecid Approved Pharma Inhibition, Inhibitor, Target, antagonist 29
Carbenoxolone Experimental Pharma Inhibitor 0
Flufenamic Acid Experimental Pharma Channel blocker 0
10Panx Pharma Panx-1 mimetic inhibitor, Panx-1 mimetic inhibitory peptide; blocks pannexin-1 gap junctions 0
Liver Extracts Pharma 4067

(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
Gap19 Cx43 hemichannel blocker 1507930-57-5

(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

Unigene Clusters for PANX1 Gene

Pannexin 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

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
ECgene alternative splicing isoforms for
PANX1

Expression for PANX1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for PANX1 Gene



NURSA nuclear receptor signaling pathways regulating expression of PANX1 Gene:

PANX1

SOURCE GeneReport for Unigene cluster for PANX1 Gene:

Hs.591976

Evidence on tissue expression from TISSUES for PANX1 Gene

  • Bone(4.1)
  • Nervous system(3.4)
  • Muscle(2.4)
  • Heart(2.1)
  • Blood(2)
  • Lung(2)
genes like me logo Genes that share expression patterns with PANX1: view

Primer Products

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 , mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.37 (n)
dog
(Canis familiaris)
Mammalia PANX1 34 35
  • 85.14 (n)
cow
(Bos Taurus)
Mammalia PANX1 34 35
  • 83.85 (n)
mouse
(Mus musculus)
Mammalia Panx1 34 16 35
  • 83.84 (n)
rat
(Rattus norvegicus)
Mammalia Panx1 34
  • 82.51 (n)
oppossum
(Monodelphis domestica)
Mammalia PANX1 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PANX1 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves PANX1 35
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PANX1 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia panx1 34
  • 66.82 (n)
Str.14956 34
zebrafish
(Danio rerio)
Actinopterygii panx1a 34 35
  • 59.47 (n)
panx1b 35
  • 56 (a)
OneToMany
zgc55631 34
Species where no ortholog for PANX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for PANX1 Gene

Paralogs for PANX1 Gene

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

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

Variants for PANX1 Gene

Sequence variations from dbSNP and Humsavar for PANX1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs143240087 Uncertain significance 94,179,706(+) CTGCC(A/G)CCTGC reference, missense
rs1000016498 -- 94,167,621(+) ATTAA(G/T)CATAT intron-variant
rs1000085824 -- 94,153,370(+) TGTCC(G/T)AATGT intron-variant, upstream-variant-2KB
rs1000274772 -- 94,186,093(+) ATGTT(A/G)TATTA downstream-variant-500B
rs1000289672 -- 94,165,951(+) TTATT(A/G)GTTAT intron-variant

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)

Relevant External Links for PANX1 Gene

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

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

Disorders for PANX1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for PANX1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
pineal parenchymal tumor of intermediate differentiation
  • pineal parenchymal tumour of intermediate differentiation
basilar artery occlusion
occlusion precerebral artery
  • occlusion and stenosis of multiple and bilateral precerebral arteries
ischemia
  • acute coronary syndrome
mental retardation, x-linked, syndromic 15
  • mental retardation, x-linked, with short stature
- elite association - COSMIC cancer census association via MalaCards
Search PANX1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PANX1

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

No data available for UniProtKB/Swiss-Prot and 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. (J. Cell Biol. 2006) 3 4 22 64
  2. The mammalian pannexin family is homologous to the invertebrate innexin gap junction proteins. (PMID: 15028292) Baranova A. … Panchin Y. (Genomics 2004) 3 4 22 64
  3. Pannexins, a family of gap junction proteins expressed in brain. (PMID: 14597722) Bruzzone R. … Monyer H. (Proc. Natl. Acad. Sci. U.S.A. 2003) 2 3 22 64
  4. Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot". (PMID: 20628624) Johnatty S.E. … . (PLoS Genet. 2010) 3 46 64
  5. Lack of coupling between membrane stretching and pannexin-1 hemichannels. (PMID: 19150332) Reyes J.P. … Arreola J. (Biochem. Biophys. Res. Commun. 2009) 3 22 64

Products for PANX1 Gene

Sources for PANX1 Gene

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