Human Gene PANX1 (ENST00000227638.8_9) from GENCODE V47lift37
  Description: pannexin 1 (from RefSeq NM_015368.4)
Gencode Transcript: ENST00000227638.8_9
Gencode Gene: ENSG00000110218.9_14
Transcript (Including UTRs)
   Position: hg19 chr11:93,862,007-93,915,134 Size: 53,128 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg19 chr11:93,862,479-93,914,035 Size: 51,557 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:93,862,007-93,915,134)mRNA (may differ from genome)Protein (426 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PANX1_HUMAN
DESCRIPTION: RecName: Full=Pannexin-1;
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.
SUBUNIT: Homohexamer. Forms homomeric or PANX1/PANX2-heteromeric intercellular channels on coexpression in paired Xenopus oocytes (By similarity).
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein (Potential). Cell junction, gap junction. Endoplasmic reticulum membrane; Multi-pass membrane protein (Potential).
SIMILARITY: Belongs to the pannexin family.
WEB RESOURCE: Name=Wikipedia; Note=Pannexin entry; URL="http://en.wikipedia.org/wiki/Pannexin";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PANX1
Diseases sorted by gene-association score: pineal parenchymal tumor of intermediate differentiation (7), basilar artery occlusion (6), ischemia (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D000082 Acetaminophen
  • D000255 Adenosine Triphosphate
  • D002229 Carbenoxolone
  • D011339 Probenecid
  • C111118 2',3,3',4',5-pentachloro-4-hydroxybiphenyl
  • C033901 3'-O-(4-benzoyl)benzoyladenosine 5'-triphosphate
  • D017878 4,4'-Diisothiocyanostilbene-2,2'-Disulfonic Acid
  • C009505 4,4'-diaminodiphenylmethane
  • D012856 4-Acetamido-4'-isothiocyanatostilbene-2,2'-disulfonic Acid
  • C058176 5-nitro-2-(3-phenylpropylamino)benzoic acid
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 15.96 RPKM in Cells - Cultured fibroblasts
Total median expression: 231.57 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -255.80472-0.542 Picture PostScript Text
3' UTR -275.501099-0.251 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000990 - Innexin

Pfam Domains:
PF00876 - Innexin

ModBase Predicted Comparative 3D Structure on Q96RD7
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0002020 protease binding
GO:0003779 actin binding
GO:0005102 receptor binding
GO:0005243 gap junction channel activity
GO:0005262 calcium channel activity
GO:0015267 channel activity
GO:0022840 leak channel activity
GO:0044325 ion channel binding
GO:0046982 protein heterodimerization activity
GO:0051015 actin filament binding
GO:0055077 gap junction hemi-channel activity
GO:0097110 scaffold protein binding

Biological Process:
GO:0002931 response to ischemia
GO:0006811 ion transport
GO:0006812 cation transport
GO:0006816 calcium ion transport
GO:0007267 cell-cell signaling
GO:0033198 response to ATP
GO:0034214 protein hexamerization
GO:0050715 positive regulation of cytokine secretion
GO:0050717 positive regulation of interleukin-1 alpha secretion
GO:0050718 positive regulation of interleukin-1 beta secretion
GO:0055085 transmembrane transport
GO:0070588 calcium ion transmembrane transport

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0005921 gap junction
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030054 cell junction
GO:0032059 bleb
GO:0032991 macromolecular complex


-  Descriptions from all associated GenBank mRNAs
  AF086184 - Homo sapiens full length insert cDNA clone ZC30C07.
DL491746 - Novel nucleic acids.
DL490326 - Novel nucleic acids.
BC016931 - Homo sapiens pannexin 1, mRNA (cDNA clone MGC:21309 IMAGE:4390851), complete cds.
AF398509 - Homo sapiens pannexin 1 (PANX1) mRNA, complete cds.
JD462319 - Sequence 443343 from Patent EP1572962.
AK313074 - Homo sapiens cDNA, FLJ93555.
AK074897 - Homo sapiens cDNA FLJ90416 fis, clone NT2RP3000169, highly similar to Pannexin 1.
AF093239 - Homo sapiens MRS1 mRNA, complete cds.
JD406991 - Sequence 388015 from Patent EP1572962.
JD389874 - Sequence 370898 from Patent EP1572962.
JD124843 - Sequence 105867 from Patent EP1572962.
AY359023 - Homo sapiens clone DNA98600 PANX1 (UNQ2529) mRNA, complete cds.
JD462919 - Sequence 443943 from Patent EP1572962.
KJ898543 - Synthetic construct Homo sapiens clone ccsbBroadEn_07937 PANX1 gene, encodes complete protein.
FM201789 - Homo sapiens mRNA for pannexin 1 (PANX1 gene), cell line THP1.
DQ586003 - Homo sapiens piRNA piR-53115, complete sequence.
JD460598 - Sequence 441622 from Patent EP1572962.
JD350685 - Sequence 331709 from Patent EP1572962.
JD303902 - Sequence 284926 from Patent EP1572962.
JD224463 - Sequence 205487 from Patent EP1572962.
JD359170 - Sequence 340194 from Patent EP1572962.
JD553935 - Sequence 534959 from Patent EP1572962.
JD244597 - Sequence 225621 from Patent EP1572962.
JD289667 - Sequence 270691 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96RD7 (Reactome details) participates in the following event(s):

R-HSA-375339 Pannexin 1/Pannexin2 mediated neuronal gap junction communication
R-HSA-844456 The NLRP3 inflammasome
R-HSA-622312 Inflammasomes
R-HSA-168643 Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways
R-HSA-112303 Electric Transmission Across Gap Junctions
R-HSA-168249 Innate Immune System
R-HSA-112307 Transmission across Electrical Synapses
R-HSA-168256 Immune System
R-HSA-112316 Neuronal System

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000227638.1, ENST00000227638.2, ENST00000227638.3, ENST00000227638.4, ENST00000227638.5, ENST00000227638.6, ENST00000227638.7, MRS1, NM_015368, O75968, PANX1 , PANX1_HUMAN, Q543A0, Q6UW26, Q96AM9, Q96L77, Q96RD7, Q96RS5, uc317dna.1, uc317dna.2, UNQ2529/PRO6028
UCSC ID: ENST00000227638.8_9
RefSeq Accession: NM_015368.4
Protein: Q96RD7 (aka PANX1_HUMAN or PAN1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.