ACCN1

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Amiloride-sensitive cation channel 1, neuronal (degenerin)
Identifiers
Symbol(s) ACCN1; ACCN; ASIC2; ASIC2a; BNC1; BNaC1; MDEG; hBNaC1
External IDs OMIM: 601784 MGI: 1100867 Homologene: 37439
RNA expression pattern

More reference expression data

Orthologs
Human Mouse
Entrez 40 11418
Ensembl ENSG00000108684 ENSMUSG00000020704
Uniprot Q16515 Q78E63
Refseq XM_001125040 (mRNA)
XP_001125040 (protein) 		XM_001001839 (mRNA)
XP_001001839 (protein)
Location Chr 17: 28.36 - 29.51 Mb Chr 11: 80.7 - 81.78 Mb
Pubmed search [1] [2]

Amiloride-sensitive cation channel 1, neuronal (degenerin), also known as ACCN1, is a human gene.[1]


This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, 2 hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene may play a role in neurotransmission. In addition, a heteromeric association between this member and ACCN3 (variant 1) has been observed to co-assemble into proton-gated channels sensitive to gadolinium. Alternative splicing has been observed at this locus and two variants, encoding distinct isoforms, have been identified.[1]


References

  1. ↑ 1.0 1.1 Entrez Gene: ACCN1 amiloride-sensitive cation channel 1, neuronal (degenerin).

Further reading

  • Price MP, Snyder PM, Welsh MJ (1996). "Cloning and expression of a novel human brain Na+ channel.". J. Biol. Chem. 271 (14): 7879-82. PMID 8626462.
  • Waldmann R, Champigny G, Voilley N, et al. (1996). "The mammalian degenerin MDEG, an amiloride-sensitive cation channel activated by mutations causing neurodegeneration in Caenorhabditis elegans.". J. Biol. Chem. 271 (18): 10433-6. PMID 8631835.
  • Waldmann R, Voilley N, Mattéï MG, Lazdunski M (1997). "The human degenerin MDEG, an amiloride-sensitive neuronal cation channel, is localized on chromosome 17q11.2-17q12 close to the microsatellite D17S798.". Genomics 37 (2): 269-70. PMID 8921408.
  • García-Añoveros J, Derfler B, Neville-Golden J, et al. (1997). "BNaC1 and BNaC2 constitute a new family of human neuronal sodium channels related to degenerins and epithelial sodium channels.". Proc. Natl. Acad. Sci. U.S.A. 94 (4): 1459-64. PMID 9037075.
  • Bassilana F, Champigny G, Waldmann R, et al. (1997). "The acid-sensitive ionic channel subunit ASIC and the mammalian degenerin MDEG form a heteromultimeric H+-gated Na+ channel with novel properties.". J. Biol. Chem. 272 (46): 28819-22. PMID 9360943.
  • Babinski K, Catarsi S, Biagini G, Séguéla P (2000). "Mammalian ASIC2a and ASIC3 subunits co-assemble into heteromeric proton-gated channels sensitive to Gd3+.". J. Biol. Chem. 275 (37): 28519-25. doi:10.1074/jbc.M004114200. PMID 10842183.
  • Duggan A, Garcia-Anoveros J, Corey DP (2002). "The PDZ domain protein PICK1 and the sodium channel BNaC1 interact and localize at mechanosensory terminals of dorsal root ganglion neurons and dendrites of central neurons.". J. Biol. Chem. 277 (7): 5203-8. doi:10.1074/jbc.M104748200. PMID 11739374.
  • Hruska-Hageman AM, Wemmie JA, Price MP, Welsh MJ (2002). "Interaction of the synaptic protein PICK1 (protein interacting with C kinase 1) with the non-voltage gated sodium channels BNC1 (brain Na+ channel 1) and ASIC (acid-sensing ion channel).". Biochem. J. 361 (Pt 3): 443-50. PMID 11802773.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899-903. doi:10.1073/pnas.242603899. PMID 12477932.
  • Price MP, Thompson RJ, Eshcol JO, et al. (2005). "Stomatin modulates gating of acid-sensing ion channels.". J. Biol. Chem. 279 (51): 53886-91. doi:10.1074/jbc.M407708200. PMID 15471860.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121-7. doi:10.1101/gr.2596504. PMID 15489334.
  • Saugstad JA, Roberts JA, Dong J, et al. (2005). "Analysis of the membrane topology of the acid-sensing ion channel 2a.". J. Biol. Chem. 279 (53): 55514-9. doi:10.1074/jbc.M411849200. PMID 15504740.
  • Vila-Carriles WH, Kovacs GG, Jovov B, et al. (2006). "Surface expression of ASIC2 inhibits the amiloride-sensitive current and migration of glioma cells.". J. Biol. Chem. 281 (28): 19220-32. doi:10.1074/jbc.M603100200. PMID 16704974.
  • Chai S, Li M, Lan J, et al. (2007). "A kinase-anchoring protein 150 and calcineurin are involved in regulation of acid-sensing ion channels ASIC1a and ASIC2a.". J. Biol. Chem. 282 (31): 22668-77. doi:10.1074/jbc.M703624200. PMID 17548344.
  • Joch M, Ase AR, Chen CX, et al. (2007). "Parkin-mediated monoubiquitination of the PDZ protein PICK1 regulates the activity of acid-sensing ion channels.". Mol. Biol. Cell 18 (8): 3105-18. doi:10.1091/mbc.E05-11-1027. PMID 17553932.
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Acknowledgement and Attribution Regarding Sources of Content

Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .

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