PANX1

PANX1
Identifiers
Aliases	PANX1, MRS1, PX1, UNQ2529, pannexin 1, OOMD7, Pannexin1
External IDs	OMIM: 608420; MGI: 1860055; HomoloGene: 49416; GeneCards: PANX1; OMA:PANX1 - orthologs
Gene location (Human) Chr. Chromosome 11 (human) Band 11q21 Start 94,128,841 bp End 94,181,968 bp
Gene location (Mouse) Chr. Chromosome 9 (mouse) Band 9|9 A2 Start 14,913,424 bp End 14,956,774 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence stromal cell of endometrium secondary oocyte islet of Langerhans monocyte ventricular zone Achilles tendon gastrocnemius muscle testicle right coronary artery Top expressed in lumbar spinal ganglion tail of embryo intestinal villus stroma of bone marrow genital tubercle ganglionic eminence Rostral migratory stream jejunum ventricular zone thymus More reference expression data BioGPS n/a
Gene ontology Molecular function transmembrane transporter binding calcium channel activity channel activity scaffold protein binding gap junction channel activity protease binding actin filament binding leak channel activity protein heterodimerization activity actin binding gap junction hemi-channel activity signaling receptor binding wide pore channel activity Cellular component integral component of membrane endoplasmic reticulum membrane cell junction bleb gap junction membrane endoplasmic reticulum plasma membrane protein-containing complex Biological process response to ATP cation transport ion transport response to ischemia calcium ion transmembrane transport transmembrane transport protein hexamerization calcium ion transport cell-cell signaling transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 24145 55991 Ensembl ENSG00000110218 ENSMUSG00000031934 UniProt Q96RD7 Q9JIP4 RefSeq (mRNA) NM_015368 NM_019482 RefSeq (protein) NP_056183 NP_062355 Location (UCSC) Chr 11: 94.13 – 94.18 Mb Chr 9: 14.91 – 14.96 Mb PubMed search
Wikidata
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Pannexin 1 is a protein in humans that is encoded by the 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.

Clinical relevance

Truncating mutations in this gene have been shown to promote breast cancer metastasis to the lungs by allowing cancer cells to survive mechanical stretch in the microcirculation.

Disruptions of this gene have been associated to melanoma tumor progression.

Pannexin 1 is also an important component of membrane channels involved in the formation of thin plasma membrane extensions called apoptopodia and beaded apoptopodia during apoptosis.

Further reading

• Pelegrin P, Surprenant A (Nov 2006). "Pannexin-1 mediates large pore formation and interleukin-1beta release by the ATP-gated P2X7 receptor". The EMBO Journal. 25 (21): 5071–82. doi:10.1038/sj.emboj.7601378. PMC 1630421. PMID 17036048.
• Bruzzone R, Hormuzdi SG, Barbe MT, Herb A, Monyer H (Nov 2003). "Pannexins, a family of gap junction proteins expressed in brain". Proceedings of the National Academy of Sciences of the United States of America. 100 (23): 13644–9. doi:10.1073/pnas.2233464100. PMC 263867. PMID 14597722.
• Reyes JP, Hernández-Carballo CY, Pérez-Flores G, Pérez-Cornejo P, Arreola J (Feb 2009). "Lack of coupling between membrane stretching and pannexin-1 hemichannels". Biochemical and Biophysical Research Communications. 380 (1): 50–3. doi:10.1016/j.bbrc.2009.01.021. PMC 2670310. PMID 19150332.
• Orloff M, Peterson C, He X, Ganapathi S, Heald B, Yang YR, Bebek G, Romigh T, Song JH, Wu W, David S, Cheng Y, Meltzer SJ, Eng C (Jul 2011). "Germline mutations in MSR1, ASCC1, and CTHRC1 in patients with Barrett esophagus and esophageal adenocarcinoma". JAMA. 306 (4): 410–9. doi:10.1001/jama.2011.1029. PMC 3574553. PMID 21791690.
• Ambrosi C, Gassmann O, Pranskevich JN, Boassa D, Smock A, Wang J, Dahl G, Steinem C, Sosinsky GE (Aug 2010). "Pannexin1 and Pannexin2 channels show quaternary similarities to connexons and different oligomerization numbers from each other". The Journal of Biological Chemistry. 285 (32): 24420–31. doi:10.1074/jbc.M110.115444. PMC 2915678. PMID 20516070.{{cite journal}}: CS1 maint: unflagged free DOI (link)
• Woehrle T, Yip L, Elkhal A, Sumi Y, Chen Y, Yao Y, Insel PA, Junger WG (Nov 2010). "Pannexin-1 hemichannel-mediated ATP release together with P2X1 and P2X4 receptors regulate T-cell activation at the immune synapse". Blood. 116 (18): 3475–84. doi:10.1182/blood-2010-04-277707. PMC 2981474. PMID 20660288.
• Boassa D, Ambrosi C, Qiu F, Dahl G, Gaietta G, Sosinsky G (Oct 2007). "Pannexin1 channels contain a glycosylation site that targets the hexamer to the plasma membrane". The Journal of Biological Chemistry. 282 (43): 31733–43. doi:10.1074/jbc.M702422200. PMID 17715132.{{cite journal}}: CS1 maint: unflagged free DOI (link)
• Baranova A, Ivanov D, Petrash N, Pestova A, Skoblov M, Kelmanson I, Shagin D, Nazarenko S, Geraymovych E, Litvin O, Tiunova A, Born TL, Usman N, Staroverov D, Lukyanov S, Panchin Y (Apr 2004). "The mammalian pannexin family is homologous to the invertebrate innexin gap junction proteins". Genomics. 83 (4): 706–16. doi:10.1016/j.ygeno.2003.09.025. PMID 15028292.
• Bhalla-Gehi R, Penuela S, Churko JM, Shao Q, Laird DW (Mar 2010). "Pannexin1 and pannexin3 delivery, cell surface dynamics, and cytoskeletal interactions". The Journal of Biological Chemistry. 285 (12): 9147–60. doi:10.1074/jbc.M109.082008. PMC 2838334. PMID 20086016.{{cite journal}}: CS1 maint: unflagged free DOI (link)