SCNN1G

From Wikipedia, the free encyclopedia

Sodium channel, nonvoltage-gated 1, gamma

Identifiers

SCNN1G; ENaCg; ENaCgamma; PHA1; SCNEG

External IDs

OMIM: 600761 MGI: 104695 HomoloGene: 20280

Gene ontology
Molecular Function:	• ion channel activity • protein binding • amiloride-sensitive sodium channel activity • sodium ion binding
Cellular Component:	• integral to plasma membrane • membrane
Biological Process:	• ion transport • sodium ion transport • excretion • response to stimulus

Orthologs

Human

Mouse

Refseq

NM_001039 (mRNA)
NP_001030 (protein)

XM_992115 (mRNA)
XP_997209 (protein)

Location

Chr 16: 23.1 - 23.14 Mb

Chr 7: 121.53 - 121.56 Mb

Pubmed search

[1]

[2]

Sodium channel, nonvoltage-gated 1, gamma, also known as SCNN1G, is a human gene.^[1]

[edit] References

^ Entrez Gene: SCNN1G sodium channel, nonvoltage-gated 1, gamma.

[edit] Further reading

Peters KW, Qi J, Johnson JP, et al. (2002). "Role of snare proteins in CFTR and ENaC trafficking.". Pflugers Arch. 443 Suppl 1: S65-9. doi:10.1007/s004240100647. PMID 11845306.
Voilley N, Bassilana F, Mignon C, et al. (1996). "Cloning, chromosomal localization, and physical linkage of the beta and gamma subunits (SCNN1B and SCNN1G) of the human epithelial amiloride-sensitive sodium channel.". Genomics 28 (3): 560-5. doi:10.1006/geno.1995.1188. PMID 7490094.
Waldmann R, Champigny G, Bassilana F, et al. (1996). "Molecular cloning and functional expression of a novel amiloride-sensitive Na+ channel.". J. Biol. Chem. 270 (46): 27411-4. PMID 7499195.
Hansson JH, Nelson-Williams C, Suzuki H, et al. (1995). "Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome.". Nat. Genet. 11 (1): 76-82. doi:10.1038/ng0995-76. PMID 7550319.
McDonald FJ, Price MP, Snyder PM, Welsh MJ (1995). "Cloning and expression of the beta- and gamma-subunits of the human epithelial sodium channel.". Am. J. Physiol. 268 (5 Pt 1): C1157-63. PMID 7762608.
Snyder PM, Price MP, McDonald FJ, et al. (1996). "Mechanism by which Liddle's syndrome mutations increase activity of a human epithelial Na+ channel.". Cell 83 (6): 969-78. PMID 8521520.
Strautnieks SS, Thompson RJ, Gardiner RM, Chung E (1996). "A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families.". Nat. Genet. 13 (2): 248-50. doi:10.1038/ng0696-248. PMID 8640238.
Thomas CP, Doggett NA, Fisher R, Stokes JB (1996). "Genomic organization and the 5' flanking region of the gamma subunit of the human amiloride-sensitive epithelial sodium channel.". J. Biol. Chem. 271 (42): 26062-6. PMID 8824247.
Firsov D, Schild L, Gautschi I, et al. (1997). "Cell surface expression of the epithelial Na channel and a mutant causing Liddle syndrome: a quantitative approach.". Proc. Natl. Acad. Sci. U.S.A. 93 (26): 15370-5. PMID 8986818.
Pirozzi G, McConnell SJ, Uveges AJ, et al. (1997). "Identification of novel human WW domain-containing proteins by cloning of ligand targets.". J. Biol. Chem. 272 (23): 14611-6. PMID 9169421.
Staub O, Gautschi I, Ishikawa T, et al. (1998). "Regulation of stability and function of the epithelial Na+ channel (ENaC) by ubiquitination.". EMBO J. 16 (21): 6325-36. doi:10.1093/emboj/16.21.6325. PMID 9351815.
Halushka MK, Fan JB, Bentley K, et al. (1999). "Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis.". Nat. Genet. 22 (3): 239-47. doi:10.1038/10297. PMID 10391210.
Arai K, Zachman K, Shibasaki T, Chrousos GP (1999). "Polymorphisms of amiloride-sensitive sodium channel subunits in five sporadic cases of pseudohypoaldosteronism: do they have pathologic potential?". J. Clin. Endocrinol. Metab. 84 (7): 2434-7. PMID 10404817.
Farr TJ, Coddington-Lawson SJ, Snyder PM, McDonald FJ (2000). "Human Nedd4 interacts with the human epithelial Na+ channel: WW3 but not WW1 binds to Na+-channel subunits.". Biochem. J. 345 Pt 3: 503-9. PMID 10642508.
Auerbach SD, Loftus RW, Itani OA, Thomas CP (2000). "Human amiloride-sensitive epithelial Na+ channel gamma subunit promoter: functional analysis and identification of a polypurine-polypyrimidine tract with the potential for triplex DNA formation.". Biochem. J. 347 Pt 1: 105-14. PMID 10727408.
Harvey KF, Dinudom A, Cook DI, Kumar S (2001). "The Nedd4-like protein KIAA0439 is a potential regulator of the epithelial sodium channel.". J. Biol. Chem. 276 (11): 8597-601. doi:10.1074/jbc.C000906200. PMID 11244092.
Shi H, Asher C, Chigaev A, et al. (2002). "Interactions of beta and gamma ENaC with Nedd4 can be facilitated by an ERK-mediated phosphorylation.". J. Biol. Chem. 277 (16): 13539-47. doi:10.1074/jbc.M111717200. PMID 11805112.
Ottaviani E, Franchini A, Mandrioli M, et al. (2002). "Amiloride-sensitive epithelial sodium channel subunits are expressed in human and mussel immunocytes.". Dev. Comp. Immunol. 26 (5): 395-402. PMID 11906720.
Saxena A, Hanukoglu I, Saxena D, et al. (2002). "Novel mutations responsible for autosomal recessive multisystem pseudohypoaldosteronism and sequence variants in epithelial sodium channel alpha-, beta-, and gamma-subunit genes.". J. Clin. Endocrinol. Metab. 87 (7): 3344-50. PMID 12107247.