PANX1
Pannexin-1
Also known as: MRS1, PANX1_HUMAN, PX1, UNQ2529
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96RD7
- Gene
- PANX1
- Ensembl
- ENSG00000110218
- Chromosome
- 11
- Canonical length
- 426 aa
- Protein class
- Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters
- Subcellular location
- Plasma membrane
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
426 residues, UniProt reviewed canonical sequence.
>Q96RD7|PANX1
1 MAIAQLATEY VFSDFLLKEP TEPKFKGLRL ELAVDKMVTC IAVGLPLLLI SLAFAQEISI
61 GTQISCFSPS SFSWRQAAFV DSYCWAAVQQ KNSLQSESGN LPLWLHKFFP YILLLFAILL
121 YLPPLFWRFA AAPHICSDLK FIMEELDKVY NRAIKAAKSA RDLDMRDGAC SVPGVTENLG
181 QSLWEVSESH FKYPIVEQYL KTKKNSNNLI IKYISCRLLT LIIILLACIY LGYYFSLSSL
241 SDEFVCSIKS GILRNDSTVP DQFQCKLIAV GIFQLLSVIN LVVYVLLAPV VVYTLFVPFR
301 QKTDVLKVYE ILPTFDVLHF KSEGYNDLSL YNLFLEENIS EVKSYKCLKV LENIKSSGQG
361 IDPMLLLTNL GMIKMDVVDG KTPMSAEMRE EQGNQTAELQ GMNIDSETKA NNGEKNARQR
421 LLDSSCLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PANX1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 4
- Mean surface accessibility (rSASA)
- 0.36
- Highest tissue expression
- 20 nTPM
Expression across tissuesHPA
Tissue
- urinary bladder: 20 nTPM
- skeletal muscle: 19 nTPM
- liver: 16 nTPM
- smooth muscle: 12 nTPM
- appendix: 11 nTPM
- gallbladder: 11 nTPM
Single-cell type
- basal keratinocytes: 129 nCPM
- platelets: 89 nCPM
- suprabasal keratinocytes: 77 nCPM
- thymic myoid cells: 53 nCPM
- hofbauer cells: 53 nCPM
- extravillous trophoblasts: 51 nCPM
Immune cell
- classical monocyte: 4 nTPM
- basophil: 3.2 nTPM
- total PBMC: 3.2 nTPM
- T-reg: 2.9 nTPM
- myeloid DC: 2.7 nTPM
- NK-cell: 2.6 nTPM
Brain region
- hypothalamus: 22 nTPM
- cerebral cortex: 18 nTPM
- basal ganglia: 18 nTPM
- pons: 14 nTPM
- thalamus: 14 nTPM
- midbrain: 13 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PANX1.
Disease | AllUniProt
Conditions PANX1 is implicated in, by any mechanism.
- Oocyte/zygote/embryo maturation arrest 7 (OZEMA7) MIM:618550
Disease | GeneticClinVar
4 pathogenic / likely-pathogenic of 114 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Oocyte maturation defect 7
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.12
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.42
- DepMap mean gene effect
- 0.02
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- ATP transport
- calcium ion transport
- cell-cell signaling
- monoatomic anion transmembrane transport
- monoatomic cation transport
- oogenesis
- positive regulation of interleukin-1 alpha production
- positive regulation of interleukin-1 beta production
- positive regulation of macrophage cytokine production
- response to ATP
- response to ischemia
Molecular functions
- actin filament binding
- ATP transmembrane transporter activity
- calcium channel activity
- gap junction channel activity
- identical protein binding
- leak channel activity
- monoatomic anion channel activity
- protease binding
- scaffold protein binding
- signaling receptor binding
- structural molecule activity
- transmembrane transporter binding
- wide pore channel activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PANX1 as an antibody target. Whether an autoantibody or antibody against PANX1 could matter depends on whether native PANX1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PANX1 is annotated at the cell surface, where native PANX1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label PANX1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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