“FXYD2”的意思、由来-开放百科全书

This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Mouse FXYD5 has been termed RIC (Related to Ion Channel). FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. The Type III integral membrane protein encoded by this gene is the gamma subunit of the Na,K-ATPase present on the plasma membrane. Although the Na,K-ATPase does not depend on the gamma subunit to be functional, it is thought that the gamma subunit modulates the enzyme's activity by inducing ion channel activity. Mutations in this gene have been associated with renal hypomagnesaemia.^[3]

References

1. ^{{cite journal |vauthors=Kim JW, Lee Y, Lee IA, Kang HB, Choe YK, Choe IS | title = Cloning and expression of human cDNA encoding Na+, K(+)-ATPase gamma-subunit | journal = Biochim Biophys Acta | volume = 1350 | issue = 2 | pages = 133–5 |date=Apr 1997 | pmid = 9048881 | pmc = | doi = 10.1016/S0167-4781(96)00219-9}}
2. ^{{cite journal |vauthors=Meij IC, Saar K, van den Heuvel LP, Nuernberg G, Vollmer M, Hildebrandt F, Reis A, Monnens LA, Knoers NV | title = Hereditary isolated renal magnesium loss maps to chromosome 11q23 | journal = Am J Hum Genet | volume = 64 | issue = 1 | pages = 180–8 |date=Mar 1999 | pmid = 9915957 | pmc = 1377716 | doi = 10.1086/302199 }}
3. ^¹{{cite web | title = Entrez Gene: FXYD2 FXYD domain containing ion transport regulator 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=486| accessdate = }}

Further reading

{{cite journal | author=Adams MD |title=Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence |journal=Nature |volume=377 |issue= 6547 Suppl |pages= 3–174 |year= 1995 |pmid= 7566098 |doi= |url=http://www.columbia.edu/itc/biology/pollack/w4065/client_edit/readings/nature377_3.pdf | format=PDF |name-list-format=vanc| author2=Kerlavage AR | author3=Fleischmann RD | display-authors=3 | last4=Fuldner | first4=RA | last5=Bult | first5=CJ | last6=Lee | first6=NH | last7=Kirkness | first7=EF | last8=Weinstock | first8=KG | last9=Gocayne | first9=JD }}

{{cite journal | author=Austruy E |title=Isolation of kidney complementary DNAs down-expressed in Wilms' tumor by a subtractive hybridization approach |journal=Cancer Res. |volume=53 |issue= 12 |pages= 2888–94 |year= 1993 |pmid= 7916648 |doi= |name-list-format=vanc| author2=Cohen-Salmon M | author3=Antignac C | display-authors=3 | last4=Béroud | first4=C | last5=Henry | first5=I | last6=Nguyen | first6=VC | last7=Brugières | first7=L | last8=Junien | first8=C | last9=Jeanpierre | first9=C }}

{{cite journal |vauthors=Therien AG, Goldshleger R, Karlish SJ, Blostein R |title=Tissue-specific distribution and modulatory role of the gamma subunit of the Na,K-ATPase |journal=J. Biol. Chem. |volume=272 |issue= 51 |pages= 32628–34 |year= 1998 |pmid= 9405479 |doi=10.1074/jbc.272.51.32628 }}

{{cite journal | author=Annabi B |title=The gene for glycogen-storage disease type 1b maps to chromosome 11q23 |journal=Am. J. Hum. Genet. |volume=62 |issue= 2 |pages= 400–5 |year= 1998 |pmid= 9463334 |doi=10.1086/301727 | pmc=1376902 |name-list-format=vanc| author2=Hiraiwa H | author3=Mansfield BC | display-authors=3 | last4=Lei | first4=Ke-Jian | last5=Ubagai | first5=Tsuneyuki | last6=Polymeropoulos | first6=Mihael H. | last7=Moses | first7=Shimon W. | last8=Parvari | first8=Ruti | last9=Hershkovitz | first9=Eli }}

{{cite journal |vauthors=Minor NT, Sha Q, Nichols CG, Mercer RW |title=The gamma subunit of the Na,K-ATPase induces cation channel activity |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=95 |issue= 11 |pages= 6521–5 |year= 1998 |pmid= 9600999 |doi=10.1073/pnas.95.11.6521 | pmc=27846 }}

{{cite journal |vauthors=Arystarkhova E, Wetzel RK, Asinovski NK, Sweadner KJ |title=The gamma subunit modulates Na(+) and K(+) affinity of the renal Na,K-ATPase |journal=J. Biol. Chem. |volume=274 |issue= 47 |pages= 33183–5 |year= 1999 |pmid= 10559186 |doi=10.1074/jbc.274.47.33183 }}

{{cite journal |vauthors=Sweadner KJ, Rael E |title=The FXYD gene family of small ion transport regulators or channels: cDNA sequence, protein signature sequence, and expression |journal=Genomics |volume=68 |issue= 1 |pages= 41–56 |year= 2001 |pmid= 10950925 |doi= 10.1006/geno.2000.6274 }}

{{cite journal | author=Meij IC |title=Dominant isolated renal magnesium loss is caused by misrouting of the Na(+),K(+)-ATPase gamma-subunit |journal=Nat. Genet. |volume=26 |issue= 3 |pages= 265–6 |year= 2000 |pmid= 11062458 |doi= 10.1038/81543 |name-list-format=vanc| author2=Koenderink JB | author3=van Bokhoven H | display-authors=3 | last4=Van Bokhoven | first4=Hans | last5=Assink | first5=Karin F.H. | last6=Tiel Groenestege | first6=Wouter | last7=De Pont | first7=Jan Joep H.H.M. | last8=Bindels | first8=René J.M. | last9=Monnens | first9=Leo A.H. }}

{{cite journal |vauthors=Sweadner KJ, Wetzel RK, Arystarkhova E |title=Genomic organization of the human FXYD2 gene encoding the gamma subunit of the Na,K-ATPase |journal=Biochem. Biophys. Res. Commun. |volume=279 |issue= 1 |pages= 196–201 |year= 2001 |pmid= 11112438 |doi= 10.1006/bbrc.2000.3907 }}

{{cite journal |vauthors=Arystarkhova E, Wetzel RK, Sweadner KJ |title=Distribution and oligomeric association of splice forms of Na(+)-K(+)-ATPase regulatory gamma-subunit in rat kidney |journal=Am. J. Physiol. Renal Physiol. |volume=282 |issue= 3 |pages= F393–407 |year= 2002 |pmid= 11832419 |doi= 10.1152/ajprenal.00146.2001 }}

{{cite journal | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |name-list-format=vanc| author2=Feingold EA | author3=Grouse LH | display-authors=3 | last4=Derge | first4=JG | last5=Klausner | first5=RD | last6=Collins | first6=FS | last7=Wagner | first7=L | last8=Shenmen | first8=CM | last9=Schuler | first9=GD }}

{{cite journal | author=Zouzoulas A |title=Modulation of Na,K-ATPase by the gamma subunit: studies with transfected cells and transmembrane mimetic peptides |journal=J. Biol. Chem. |volume=278 |issue= 42 |pages= 40437–41 |year= 2003 |pmid= 12907667 |doi= 10.1074/jbc.M308610200 |name-list-format=vanc| author2=Therien AG | author3=Scanzano R | display-authors=3 | last4=Deber | first4=CM | last5=Blostein | first5=R }}

{{cite journal | author=Ota T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |name-list-format=vanc| author2=Suzuki Y | author3=Nishikawa T | display-authors=3 | last4=Otsuki | first4=Tetsuji | last5=Sugiyama | first5=Tomoyasu | last6=Irie | first6=Ryotaro | last7=Wakamatsu | first7=Ai | last8=Hayashi | first8=Koji | last9=Sato | first9=Hiroyuki }}

{{cite journal | author=Gerhard DS |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |name-list-format=vanc| author2=Wagner L | author3=Feingold EA | display-authors=3 | last4=Shenmen | first4=CM | last5=Grouse | first5=LH | last6=Schuler | first6=G | last7=Klein | first7=SL | last8=Old | first8=S | last9=Rasooly | first9=R }}

{{cite journal | author=Gegelashvili M |title=Glutamate transporter GLAST/EAAT1 directs cell surface expression of FXYD2/gamma subunit of Na, K-ATPase in human fetal astrocytes |journal=Neurochem. Int. |volume=50 |issue= 7–8 |pages= 916–20 |year= 2007 |pmid= 17316900 |doi= 10.1016/j.neuint.2006.12.015 |name-list-format=vanc| author2=Rodriguez-Kern A | author3=Sung L | display-authors=3 | last4=Shimamoto | first4=K | last5=Gegelashvili | first5=G }}