UniProtKB - Q96RD7 (PANX1_HUMAN)
Protein
Pannexin-1
Gene
PANX1
Organism
Homo sapiens (Human)
Status
Functioni
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 Ca2+-leak channel to regulate ER Ca2+ homeostasis (PubMed:16908669). Plays a critical role in oogenesis (PubMed:30918116).3 Publications
GO - Molecular functioni
- actin filament binding Source: Ensembl
- calcium channel activity Source: UniProtKB
- gap junction channel activity Source: Ensembl
- ion channel binding Source: Ensembl
- leak channel activity Source: UniProtKB
- protease binding Source: Ensembl
- scaffold protein binding Source: Ensembl
- signaling receptor binding Source: UniProtKB
- structural molecule activity Source: UniProtKB
- wide pore channel activity Source: GO_Central
GO - Biological processi
- calcium ion transport Source: UniProtKB
- cation transport Source: BHF-UCL
- cell-cell signaling Source: GO_Central
- oogenesis Source: UniProtKB-KW
- positive regulation of interleukin-1 alpha production Source: Ensembl
- positive regulation of interleukin-1 beta production Source: BHF-UCL
- response to ATP Source: Ensembl
- response to ischemia Source: Ensembl
Keywordsi
Molecular function | Calcium channel, Ion channel |
Biological process | Calcium transport, Differentiation, Ion transport, Oogenesis, Transport |
Ligand | Calcium |
Enzyme and pathway databases
PathwayCommonsi | Q96RD7 |
Reactomei | R-HSA-112303, Electric Transmission Across Gap Junctions R-HSA-844456, The NLRP3 inflammasome |
Protein family/group databases
TCDBi | 1.A.25.2.1, the gap junction-forming innexin (innexin) family |
Names & Taxonomyi
Protein namesi | Recommended name: Pannexin-1 |
Gene namesi | ORF Names:UNQ2529/PRO6028 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:8599, PANX1 |
MIMi | 608420, gene |
neXtProti | NX_Q96RD7 |
VEuPathDBi | HostDB:ENSG00000110218.8 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum membrane Curated; Multi-pass membrane protein PROSITE-ProRule annotation
Plasma membrane
- Cell membrane 1 Publication; Multi-pass membrane protein PROSITE-ProRule annotation
Other locations
- gap junction 2 Publications
Endoplasmic reticulum
- endoplasmic reticulum Source: UniProtKB
- endoplasmic reticulum membrane Source: UniProtKB-SubCell
Plasma Membrane
- plasma membrane Source: BHF-UCL
Other locations
- bleb Source: BHF-UCL
- gap junction Source: UniProtKB-SubCell
- integral component of membrane Source: UniProtKB-KW
- membrane Source: UniProtKB
- protein-containing complex Source: Ensembl
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 40 | CytoplasmicSequence analysisAdd BLAST | 40 | |
Transmembranei | 41 – 61 | HelicalPROSITE-ProRule annotationAdd BLAST | 21 | |
Topological domaini | 62 – 106 | ExtracellularSequence analysisAdd BLAST | 45 | |
Transmembranei | 107 – 127 | HelicalPROSITE-ProRule annotationAdd BLAST | 21 | |
Topological domaini | 128 – 217 | CytoplasmicSequence analysisAdd BLAST | 90 | |
Transmembranei | 218 – 238 | HelicalPROSITE-ProRule annotationAdd BLAST | 21 | |
Topological domaini | 239 – 266 | ExtracellularSequence analysisAdd BLAST | 28 | |
Transmembranei | 267 – 287 | HelicalPROSITE-ProRule annotationAdd BLAST | 21 | |
Topological domaini | 288 – 426 | CytoplasmicSequence analysisAdd BLAST | 139 |
Keywords - Cellular componenti
Cell junction, Cell membrane, Endoplasmic reticulum, Gap junction, MembranePathology & Biotechi
Involvement in diseasei
Oocyte maturation defect 7 (OOMD7)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant infertility disorder due to oocyte degeneration and death, which may occur before or after fertilization.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083161 | 21 – 23 | Missing in OOMD7; impaired glycosylation resulting in the absence of GLY2 and the accumulation of GLY1 forms; associated with increased hemi-channel activity. 1 Publication | 3 | |
Natural variantiVAR_083163 | 346 | K → E in OOMD7; impaired glycosylation resulting in the absence of GLY2 and the accumulation of GLY1 forms; associated with increased hemi-channel activity. 1 Publication | 1 | |
Natural variantiVAR_083164 | 347 | C → S in OOMD7; impaired glycosylation resulting in the absence of GLY2 and the accumulation of GLY1 forms; associated with increased hemichannel activity. 2 Publications | 1 | |
Natural variantiVAR_083165 | 392 – 426 | Missing in OOMD7; impaired glycosylation resulting in the absence of GLY2 and the accumulation of GLY1 forms; associated with increased hemi-channel activity. 1 PublicationAdd BLAST | 35 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 255 | N → Q: Impaired glycosylation. Loss of GLY1 and GLY2 forms. No effect on oocyte survival. 2 Publications | 1 | |
Mutagenesisi | 338 | N → Q: Impaired glycosylation; loss of GLY2 form; oocyte death. 1 Publication | 1 | |
Mutagenesisi | 394 | N → Q: No change in glycosylation pattern. 1 Publication | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 24145 |
MalaCardsi | PANX1 |
MIMi | 618550, phenotype |
OpenTargetsi | ENSG00000110218 |
PharmGKBi | PA32929 |
Miscellaneous databases
Pharosi | Q96RD7, Tbio |
Chemistry databases
ChEMBLi | CHEMBL3779756 |
DrugBanki | DB01032, Probenecid |
Genetic variation databases
BioMutai | PANX1 |
DMDMi | 317373551 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000208484 | 1 – 426 | Pannexin-1Add BLAST | 426 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 40 | S-nitrosocysteineBy similarity | 1 | |
Glycosylationi | 255 | N-linked (GlcNAc...) asparagine2 Publications | 1 | |
Modified residuei | 347 | S-nitrosocysteineBy similarity | 1 |
Post-translational modificationi
S-nitrosylation inhibits channel currents and ATP release.By similarity
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).By similarity1 Publication
Keywords - PTMi
Glycoprotein, S-nitrosylationProteomic databases
EPDi | Q96RD7 |
jPOSTi | Q96RD7 |
MassIVEi | Q96RD7 |
MaxQBi | Q96RD7 |
PaxDbi | Q96RD7 |
PeptideAtlasi | Q96RD7 |
PRIDEi | Q96RD7 |
ProteomicsDBi | 77946 [Q96RD7-1] 77947 [Q96RD7-2] |
PTM databases
GlyGeni | Q96RD7, 1 site |
iPTMneti | Q96RD7 |
PhosphoSitePlusi | Q96RD7 |
Expressioni
Tissue specificityi
Widely expressed (PubMed:30918116). Highest expression is observed in oocytes and brain (PubMed:30918116). Detected at very low levels in sperm cells (PubMed:30918116).1 Publication
Gene expression databases
Bgeei | ENSG00000110218, Expressed in cortical plate and 188 other tissues |
ExpressionAtlasi | Q96RD7, baseline and differential |
Genevisiblei | Q96RD7, HS |
Organism-specific databases
HPAi | ENSG00000110218, Low tissue specificity |
Interactioni
Subunit structurei
Homohexamer. Forms homomeric or PANX1/PANX2-heteromeric intercellular channels on coexpression in paired Xenopus oocytes (By similarity).
By similarityBinary interactionsi
Hide detailsQ96RD7
GO - Molecular functioni
- actin filament binding Source: Ensembl
- ion channel binding Source: Ensembl
- protease binding Source: Ensembl
- scaffold protein binding Source: Ensembl
- signaling receptor binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 117295, 42 interactors |
DIPi | DIP-43936N |
IntActi | Q96RD7, 26 interactors |
MINTi | Q96RD7 |
STRINGi | 9606.ENSP00000227638 |
Chemistry databases
BindingDBi | Q96RD7 |
Miscellaneous databases
RNActi | Q96RD7, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q96RD7 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Sequence similaritiesi
Belongs to the pannexin family.PROSITE-ProRule annotation
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502QT58, Eukaryota |
GeneTreei | ENSGT00940000153972 |
HOGENOMi | CLU_050054_1_0_1 |
InParanoidi | Q96RD7 |
OMAi | DRFQCKL |
PhylomeDBi | Q96RD7 |
TreeFami | TF333142 |
Family and domain databases
InterProi | View protein in InterPro IPR000990, Innexin IPR039099, Pannexin |
PANTHERi | PTHR15759, PTHR15759, 1 hit |
Pfami | View protein in Pfam PF00876, Innexin, 1 hit |
PROSITEi | View protein in PROSITE PS51013, PANNEXIN, 1 hit |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: Q96RD7-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAIAQLATEY VFSDFLLKEP TEPKFKGLRL ELAVDKMVTC IAVGLPLLLI
60 70 80 90 100
SLAFAQEISI GTQISCFSPS SFSWRQAAFV DSYCWAAVQQ KNSLQSESGN
110 120 130 140 150
LPLWLHKFFP YILLLFAILL YLPPLFWRFA AAPHICSDLK FIMEELDKVY
160 170 180 190 200
NRAIKAAKSA RDLDMRDGAC SVPGVTENLG QSLWEVSESH FKYPIVEQYL
210 220 230 240 250
KTKKNSNNLI IKYISCRLLT LIIILLACIY LGYYFSLSSL SDEFVCSIKS
260 270 280 290 300
GILRNDSTVP DQFQCKLIAV GIFQLLSVIN LVVYVLLAPV VVYTLFVPFR
310 320 330 340 350
QKTDVLKVYE ILPTFDVLHF KSEGYNDLSL YNLFLEENIS EVKSYKCLKV
360 370 380 390 400
LENIKSSGQG IDPMLLLTNL GMIKMDVVDG KTPMSAEMRE EQGNQTAELQ
410 420
GMNIDSETKA NNGEKNARQR LLDSSC
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 182 – 185 | Missing in AAK73361 (Ref. 7) Curated | 4 | |
Sequence conflicti | 316 | D → V in AAK73361 (Ref. 7) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_016098 | 5 | Q → H4 PublicationsCorresponds to variant dbSNP:rs1138800Ensembl. | 1 | |
Natural variantiVAR_083161 | 21 – 23 | Missing in OOMD7; impaired glycosylation resulting in the absence of GLY2 and the accumulation of GLY1 forms; associated with increased hemi-channel activity. 1 Publication | 3 | |
Natural variantiVAR_083162 | 217 | R → H Found in a patient with primary ovarian failure associated with intellectual disability and sensorineural hearing loss; unknown pathological significance; no change in glycosylation pattern. 2 PublicationsCorresponds to variant dbSNP:rs143240087EnsemblClinVar. | 1 | |
Natural variantiVAR_031225 | 272 | I → V No change in glycosylation pattern. 1 PublicationCorresponds to variant dbSNP:rs12793348Ensembl. | 1 | |
Natural variantiVAR_083163 | 346 | K → E in OOMD7; impaired glycosylation resulting in the absence of GLY2 and the accumulation of GLY1 forms; associated with increased hemi-channel activity. 1 Publication | 1 | |
Natural variantiVAR_083164 | 347 | C → S in OOMD7; impaired glycosylation resulting in the absence of GLY2 and the accumulation of GLY1 forms; associated with increased hemichannel activity. 2 Publications | 1 | |
Natural variantiVAR_083165 | 392 – 426 | Missing in OOMD7; impaired glycosylation resulting in the absence of GLY2 and the accumulation of GLY1 forms; associated with increased hemi-channel activity. 1 PublicationAdd BLAST | 35 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_011476 | 401 – 404 | Missing in isoform 2. 2 Publications | 4 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF093239 mRNA Translation: AAC61779.1 AF398509 mRNA Translation: AAK91714.1 AF398508, AF398506, AF398507 Genomic DNA Translation: AAK91713.1 AY048509 Genomic DNA Translation: AAL06604.1 AY359023 mRNA Translation: AAQ89382.1 AK074897 mRNA Translation: BAC11276.1 AP003966 Genomic DNA No translation available. BC016931 mRNA Translation: AAH16931.1 AH010945 Genomic DNA Translation: AAK73361.1 |
CCDSi | CCDS8296.1 [Q96RD7-1] |
RefSeqi | NP_056183.2, NM_015368.3 [Q96RD7-1] |
Genome annotation databases
Ensembli | ENST00000227638; ENSP00000227638; ENSG00000110218 [Q96RD7-1] ENST00000436171; ENSP00000411461; ENSG00000110218 [Q96RD7-2] |
GeneIDi | 24145 |
KEGGi | hsa:24145 |
UCSCi | uc001peq.4, human [Q96RD7-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
Wikipedia Pannexin entry |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF093239 mRNA Translation: AAC61779.1 AF398509 mRNA Translation: AAK91714.1 AF398508, AF398506, AF398507 Genomic DNA Translation: AAK91713.1 AY048509 Genomic DNA Translation: AAL06604.1 AY359023 mRNA Translation: AAQ89382.1 AK074897 mRNA Translation: BAC11276.1 AP003966 Genomic DNA No translation available. BC016931 mRNA Translation: AAH16931.1 AH010945 Genomic DNA Translation: AAK73361.1 |
CCDSi | CCDS8296.1 [Q96RD7-1] |
RefSeqi | NP_056183.2, NM_015368.3 [Q96RD7-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6LTN | electron microscopy | 3.10 | A/B/C/D/E/F/G | 1-426 | [»] | |
6LTO | electron microscopy | 3.10 | A/B/C/D/E/F/G | 1-426 | [»] | |
6M02 | electron microscopy | 3.20 | A/B/C/D/E/F/G | 1-426 | [»] | |
6M66 | electron microscopy | 4.10 | A/B/C/D/E/F/G | 1-426 | [»] | |
6M67 | electron microscopy | 3.60 | A/B/C/D/E/F/G | 1-426 | [»] | |
6M68 | electron microscopy | 4.60 | A/B/C/D/E/F/G | 1-426 | [»] | |
6V6D | electron microscopy | 3.77 | A/B/C/D/E/F/G | 1-426 | [»] | |
6WBF | electron microscopy | 2.83 | A/B/C/D/E/F/G | 1-373 | [»] | |
6WBG | electron microscopy | 2.97 | A/B/C/D/E/F/G | 1-373 | [»] | |
6WBI | electron microscopy | 4.39 | A/B/C/D/E/F/G | 1-371 | [»] | |
6WBK | electron microscopy | 6.01 | A/B/C/D/E/F/G | 1-370 | [»] | |
6WBL | electron microscopy | 5.13 | A/B/C/D/E/F/G | 1-370 | [»] | |
6WBM | electron microscopy | 2.86 | A/B/C/D/E/F/G | 1-373 | [»] | |
6WBN | electron microscopy | 2.83 | A/B/C/D/E/F/G/H/I/J/K/L/M/N | 1-373 | [»] | |
SMRi | Q96RD7 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 117295, 42 interactors |
DIPi | DIP-43936N |
IntActi | Q96RD7, 26 interactors |
MINTi | Q96RD7 |
STRINGi | 9606.ENSP00000227638 |
Chemistry databases
BindingDBi | Q96RD7 |
ChEMBLi | CHEMBL3779756 |
DrugBanki | DB01032, Probenecid |
Protein family/group databases
TCDBi | 1.A.25.2.1, the gap junction-forming innexin (innexin) family |
PTM databases
GlyGeni | Q96RD7, 1 site |
iPTMneti | Q96RD7 |
PhosphoSitePlusi | Q96RD7 |
Genetic variation databases
BioMutai | PANX1 |
DMDMi | 317373551 |
Proteomic databases
EPDi | Q96RD7 |
jPOSTi | Q96RD7 |
MassIVEi | Q96RD7 |
MaxQBi | Q96RD7 |
PaxDbi | Q96RD7 |
PeptideAtlasi | Q96RD7 |
PRIDEi | Q96RD7 |
ProteomicsDBi | 77946 [Q96RD7-1] 77947 [Q96RD7-2] |
Protocols and materials databases
Antibodypediai | 1920, 252 antibodies |
Genome annotation databases
Ensembli | ENST00000227638; ENSP00000227638; ENSG00000110218 [Q96RD7-1] ENST00000436171; ENSP00000411461; ENSG00000110218 [Q96RD7-2] |
GeneIDi | 24145 |
KEGGi | hsa:24145 |
UCSCi | uc001peq.4, human [Q96RD7-1] |
Organism-specific databases
CTDi | 24145 |
DisGeNETi | 24145 |
GeneCardsi | PANX1 |
HGNCi | HGNC:8599, PANX1 |
HPAi | ENSG00000110218, Low tissue specificity |
MalaCardsi | PANX1 |
MIMi | 608420, gene 618550, phenotype |
neXtProti | NX_Q96RD7 |
OpenTargetsi | ENSG00000110218 |
PharmGKBi | PA32929 |
VEuPathDBi | HostDB:ENSG00000110218.8 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QT58, Eukaryota |
GeneTreei | ENSGT00940000153972 |
HOGENOMi | CLU_050054_1_0_1 |
InParanoidi | Q96RD7 |
OMAi | DRFQCKL |
PhylomeDBi | Q96RD7 |
TreeFami | TF333142 |
Enzyme and pathway databases
PathwayCommonsi | Q96RD7 |
Reactomei | R-HSA-112303, Electric Transmission Across Gap Junctions R-HSA-844456, The NLRP3 inflammasome |
Miscellaneous databases
BioGRID-ORCSi | 24145, 6 hits in 1000 CRISPR screens |
ChiTaRSi | PANX1, human |
GeneWikii | PANX1 |
GenomeRNAii | 24145 |
Pharosi | Q96RD7, Tbio |
PROi | PR:Q96RD7 |
RNActi | Q96RD7, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000110218, Expressed in cortical plate and 188 other tissues |
ExpressionAtlasi | Q96RD7, baseline and differential |
Genevisiblei | Q96RD7, HS |
Family and domain databases
InterProi | View protein in InterPro IPR000990, Innexin IPR039099, Pannexin |
PANTHERi | PTHR15759, PTHR15759, 1 hit |
Pfami | View protein in Pfam PF00876, Innexin, 1 hit |
PROSITEi | View protein in PROSITE PS51013, PANNEXIN, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | PANX1_HUMAN | |
Accessioni | Q96RD7Primary (citable) accession number: Q96RD7 Secondary accession number(s): O75968 Q96RS5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 23, 2002 |
Last sequence update: | January 11, 2011 | |
Last modified: | April 7, 2021 | |
This is version 162 of the entry and version 4 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families