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Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_152296 Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $1699.00 25

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RefSeq Version NM_152296.4, 371940934
Length 3635 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.
Product sodium/potassium-transporting ATPase subunit alpha-3 isoform 1
Comment

Summary: The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012].


Transcript Variant: This variant (1) is the predominant transcript and encodes isoform (1).

RefSeq NP_689509.1
CDS 201..3242
Misc Feature(1)141..143
Misc Feature(2)141..143
Misc Feature(3)252..3239
Misc Feature(4)252..3239
Misc Feature(5)288..512
Misc Feature(6)414..422
Misc Feature(7)432..494
Misc Feature(8)564..626
Misc Feature(9)573..1268
Misc Feature(10)1035..1094
Misc Feature(11)1131..1184
Misc Feature(12)1449..1733
Misc Feature(13)1986..>2366
Misc Feature(14)2487..2546
Misc Feature(15)2565..3194
Misc Feature(16)2577..2639
Misc Feature(17)2700..2768
Misc Feature(18)2925..2984
Misc Feature(19)3024..3080
Misc Feature(20)3126..3188
Exon (1)1..206
Gene:ATP1A3
Gene Synonym:AHC2; DYT12; RDP
Exon (2)207..293
Gene:ATP1A3
Gene Synonym:AHC2; DYT12; RDP
Exon (3)294..353
Gene:ATP1A3
Gene Synonym:AHC2; DYT12; RDP
Exon (4)354..557
Gene:ATP1A3
Gene Synonym:AHC2; DYT12; RDP
Exon (5)558..671
Gene:ATP1A3
Gene Synonym:AHC2; DYT12; RDP
Exon (6)672..806
Gene:ATP1A3
Gene Synonym:AHC2; DYT12; RDP
Exon (7)807..924
Gene:ATP1A3
Gene Synonym:AHC2; DYT12; RDP
Exon (8)925..1193
Gene:ATP1A3
Gene Synonym:AHC2; DYT12; RDP
Exon (9)1194..1392
Gene:ATP1A3
Gene Synonym:AHC2; DYT12; RDP
Exon (10)1393..1502
Gene:ATP1A3
Gene Synonym:AHC2; DYT12; RDP
Exon (11)1503..1637
Gene:ATP1A3
Gene Synonym:AHC2; DYT12; RDP
Exon (12)1638..1830
Gene:ATP1A3
Gene Synonym:AHC2; DYT12; RDP
Exon (13)1831..2006
Gene:ATP1A3
Gene Synonym:AHC2; DYT12; RDP
Exon (14)2007..2143
Gene:ATP1A3
Gene Synonym:AHC2; DYT12; RDP
Exon (15)2144..2294
Gene:ATP1A3
Gene Synonym:AHC2; DYT12; RDP
Exon (16)2295..2463
Gene:ATP1A3
Gene Synonym:AHC2; DYT12; RDP
Exon (17)2464..2618
Gene:ATP1A3
Gene Synonym:AHC2; DYT12; RDP
Exon (18)2619..2742
Gene:ATP1A3
Gene Synonym:AHC2; DYT12; RDP
Exon (19)2743..2888
Gene:ATP1A3
Gene Synonym:AHC2; DYT12; RDP
Exon (20)2889..3019
Gene:ATP1A3
Gene Synonym:AHC2; DYT12; RDP
Exon (21)3020..3121
Gene:ATP1A3
Gene Synonym:AHC2; DYT12; RDP
Exon (22)3122..3213
Gene:ATP1A3
Gene Synonym:AHC2; DYT12; RDP
Exon (23)3214..3597
Gene:ATP1A3
Gene Synonym:AHC2; DYT12; RDP
Translation MGDKKDDKDSPKKNKGKERRDLDDLKKEVAMTEHKMSVEEVCRKYNTDCVQGLTHSKAQE ILARDGPNALTPPPTTPEWVKFCRQLFGGFSILLWIGAILCFLAYGIQAGTEDDPSGDNL YLGIVLAAVVIITGCFSYYQEAKSSKIMESFKNMVPQQALVIREGEKMQVNAEEVVVGDL VEIKGGDRVPADLRIISAHGCKVDNSSLTGESEPQTRSPDCTHDNPLETRNITFFSTNCV EGTARGVVVATGDRTVMGRIATLASGLEVGKTPIAIEIEHFIQLITGVAVFLGVSFFILS LILGYTWLEAVIFLIGIIVANVPEGLLATVTVCLTLTAKRMARKNCLVKNLEAVETLGST STICSDKTGTLTQNRMTVAHMWFDNQIHEADTTEDQSGTSFDKSSHTWVALSHIAGLCNR AVFKGGQDNIPVLKRDVAGDASESALLKCIELSSGSVKLMRERNKKVAEIPFNSTNKYQL SIHETEDPNDNRYLLVMKGAPERILDRCSTILLQGKEQPLDEEMKEAFQNAYLELGGLGE RVLGFCHYYLPEEQFPKGFAFDCDDVNFTTDNLCFVGLMSMIDPPRAAVPDAVGKCRSAG IKVIMVTGDHPITAKAIAKGVGIISEGNETVEDIAARLNIPVSQVNPRDAKACVIHGTDL KDFTSEQIDEILQNHTEIVFARTSPQQKLIIVEGCQRQGAIVAVTGDGVNDSPALKKADI GVAMGIAGSDVSKQAADMILLDDNFASIVTGVEEGRLIFDNLKKSIAYTLTSNIPEITPF LLFIMANIPLPLGTITILCIDLGTDMVPAISLAYEAAESDIMKRQPRNPRTDKLVNERLI SMAYGQIGMIQALGGFFSYFVILAENGFLPGNLVGIRLNWDDRTVNDLEDSYGQQWTYEQ RKVVEFTCHTAFFVSIVVVQWADLIICKTRRNSVFQQGMKNKILIFGLFEETALAAFLSY CPGMDVALRMYPLKPSWWFCAFPYSFLIFVYDEIRKLILRRNPGGWVEKETYY
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Position Chain Variation Link
complement(299)-dbSNP:
complement(299)-t, cdbSNP:35429923
complement(332)-t, cdbSNP:199577046
complement(355)-dbSNP:
complement(355)-, cdbSNP:34063915
complement(391)-t, cdbSNP:201573515
complement(392)-t, cdbSNP:146053862
complement(404)-g, adbSNP:148043407
complement(407)-t, adbSNP:200616931
complement(488)-g, adbSNP:142806181
complement(557)-g, adbSNP:143547136
complement(731)-dbSNP:
complement(731)-g, adbSNP:141696210
complement(779)-c, adbSNP:200860753
complement(797)-g, adbSNP:139145792
complement(818)-dbSNP:
complement(818)-g, adbSNP:201877265
complement(830)-g, adbSNP:199906040
complement(836)-g, adbSNP:146476476
complement(855)-g, cdbSNP:201302324
complement(857)-g, adbSNP:181074193
complement(866)-t, gdbSNP:2217342
complement(869)-g, adbSNP:201584925
complement(908)-g, adbSNP:145171914
complement(956)-dbSNP:
complement(956)-g, adbSNP:150070299
complement(986)-g, adbSNP:74581050
complement(1016)-t, cdbSNP:149898088
complement(1021)-t, cdbSNP:80356532
complement(1029)-g, adbSNP:80356533
complement(1115)-g, adbSNP:199711612
complement(1142)-g, adbSNP:143797324
complement(1217)-dbSNP:
complement(1217)-t, cdbSNP:140106872
complement(1219)-t, cdbSNP:146218773
complement(1265)-g, adbSNP:3206844
complement(1286)-g, adbSNP:186453162
complement(1324)-c, adbSNP:200891944
complement(1331)-t, cdbSNP:143242360
complement(1334)-g, adbSNP:180710845
complement(1364)-g, adbSNP:201446077
complement(1460)-dbSNP:
complement(1460)-g, adbSNP:113909283
complement(1481)-t, cdbSNP:116979196
complement(1523)-dbSNP:
complement(1523)-t, cdbSNP:34578730
complement(1535)-t, gdbSNP:141883973
complement(1544)-t, cdbSNP:149547406
complement(1549)-c, adbSNP:138086330
complement(1587)-g, adbSNP:150785666
complement(1589)-c, adbSNP:3206845
complement(1603)-g, adbSNP:142810744
complement(1667)-dbSNP:
complement(1667)-g, adbSNP:138797500
complement(1700)-t, gdbSNP:146606627
complement(1703)-g, adbSNP:143904999
complement(1727)-g, adbSNP:199625170
complement(1805)-g, adbSNP:148097195
complement(1860)-dbSNP:
complement(1860)-g, adbSNP:183292689
complement(1948)-g, adbSNP:3206846
complement(1964)-g, cdbSNP:143653411
complement(1976)-g, adbSNP:2288507
complement(2038)-dbSNP:
complement(2038)-t, cdbSNP:80356534
complement(2075)-c, adbSNP:199984360
complement(2084)-g, adbSNP:144130986
complement(2124)-t, cdbSNP:201391210
complement(2168)-dbSNP:
complement(2168)-g, adbSNP:142297106
complement(2174)-g, adbSNP:145869619
complement(2295)-dbSNP:
complement(2295)-g, cdbSNP:145145558
complement(2339)-g, cdbSNP:141362710
complement(2390)-g, adbSNP:202060210
complement(2426)-g, adbSNP:146600566
complement(2435)-g, adbSNP:17749999
complement(2444)-g, adbSNP:143307687
complement(2473)-dbSNP:
complement(2473)-t, gdbSNP:80356535
complement(2519)-g, adbSNP:61733017
complement(2525)-t, cdbSNP:150943961
complement(2534)-t, cdbSNP:145374789
complement(2538)-t, cdbSNP:80356536
complement(2601)-t, gdbSNP:80356537
complement(2639)-dbSNP:
complement(2639)-t, cdbSNP:189555627
complement(2651)-g, adbSNP:148392240
complement(2687)-t, cdbSNP:45606534
complement(2729)-, gdbSNP:35077238
complement(2761)-dbSNP:
complement(2761)-c, adbSNP:142869475
complement(2810)-g, adbSNP:35272495
complement(2816)-t, gdbSNP:147190071
complement(2853)-t, cdbSNP:149600313
complement(2907)-dbSNP:
complement(2907)-c, adbSNP:138217629
complement(2919)-t, gdbSNP:201848360
complement(2954)-g, adbSNP:34183349
2967+a, gdbSNP:267606670
complement(2999)-t, cdbSNP:150417636
complement(3038)-dbSNP:
complement(3038)-g, adbSNP:141421692
complement(3056)-t, cdbSNP:148292376
complement(3085)-t, gdbSNP:145179304
complement(3086)-g, adbSNP:141412861
complement(3087)-t, cdbSNP:200582951
complement(3146)-g, adbSNP:182309368
complement(3176)-g, adbSNP:146199765
complement(3216)-dbSNP:
complement(3216)-g, adbSNP:199617907
complement(3267..3268)-, adbSNP:34627136
complement(3281)-g, cdbSNP:919390
complement(3314)-t, cdbSNP:186061886
complement(3348)-g, adbSNP:180885057
complement(3478)-g, adbSNP:199854166
complement(3538)-g, adbSNP:149277536
Gene SymbolATP1A3
Gene SynonymAHC2; DYT12; RDP
Chromosome19
Locus Map19q13.31
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001256213 Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 2, mRNA. On-demand $1699.00 25
NM_001256214 Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 3, mRNA. On-demand $1699.00 25
NM_152296 Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA. On-demand $1699.00 25
Title ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia .
Author Brashear,A., Mink,J.W., Hill,D.F., Boggs,N., McCall,W.V., Stacy,M.A., Snively,B., Light,L.S., Sweadner,K.J., Ozelius,L.J. and Morrison,L.
Journal Dev Med Child Neurol 54 (11), 1065-1067 (2012)
Title Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study .
Author Rosewich,H., Thiele,H., Ohlenbusch,A., Maschke,U., Altmuller,J., Frommolt,P., Zirn,B., Ebinger,F., Siemes,H., Nurnberg,P., Brockmann,K. and Gartner,J.
Journal Lancet Neurol 11 (9), 764-773 (2012)
Title De novo mutations in ATP1A3 cause alternating hemiplegia of childhood .
Author Heinzen,E.L., Swoboda,K.J., Hitomi,Y., Gurrieri,F., Nicole,S., de Vries,B., Tiziano,F.D., Fontaine,B., Walley,N.M., Heavin,S., Panagiotakaki,E., Fiori,S., Abiusi,E., Di Pietro,L., Sweney,M.T., Newcomb,T.M., Viollet,L., Huff,C., Jorde,L.B., Reyna,S.P., Murphy,K.J., Shianna,K.V., Gumbs,C.E., Little,L., Silver,K., Ptacek,L.J., Haan,J., Ferrari,M.D., Bye,A.M., Herkes,G.K., Whitelaw,C.M., Webb,D., Lynch,B.J., Uldall,P., King,M.D., Scheffer,I.E., Neri,G., Arzimanoglou,A., van den Maagdenberg,A.M., Sisodiya,S.M., Mikati,M.A. and Goldstein,D.B.
Journal Nat. Genet. 44 (9), 1030-1034 (2012)
Title Agrin-signaling is necessary for the integration of newly generated neurons in the adult olfactory bulb .
Author Burk,K., Desoeuvre,A., Boutin,C., Smith,M.A., Kroger,S., Bosio,A., Tiveron,M.C. and Cremer,H.
Journal J. Neurosci. 32 (11), 3759-3764 (2012)
Title Immunohistochemical analyses of alpha1 and alpha3 Na+/K+-ATPase subunit expression in medulloblastomas .
Author Sunol,M., Cusi,V., Cruz,O., Kiss,R. and Lefranc,F.
Journal Anticancer Res. 31 (3), 953-958 (2011)
Title Molecular genetics of Na,K-ATPase .
Author Lingrel,J.B., Orlowski,J., Shull,M.M. and Price,E.M.
Journal Prog. Nucleic Acid Res. Mol. Biol. 38, 37-89 (1990)
Title Family of human Na+, K+-ATPase genes. Structure of the gene for the catalytic subunit (alpha III-form) and its relationship with structural features of the protein .
Author Ovchinnikov,Yu.A., Monastyrskaya,G.S., Broude,N.E., Ushkaryov,Yu.A., Melkov,A.M., Smirnov,Yu.V., Malyshev,I.V., Allikmets,R.L., Kostina,M.B., Dulubova,I.E. et al.
Journal FEBS Lett. 233 (1), 87-94 (1988)
Title Chromosomal localization of human Na+, K+-ATPase alpha- and beta-subunit genes .
Author Yang-Feng,T.L., Schneider,J.W., Lindgren,V., Shull,M.M., Benz,E.J. Jr., Lingrel,J.B. and Francke,U.
Journal Genomics 2 (2), 128-138 (1988)
Title Family of Na+,K+-ATPase genes. Intra-individual tissue-specific restriction fragment length polymorphism .
Author Sverdlov,E.D., Broude,N.E., Sverdlov,V.E., Monastyrskaya,G.S., Grishin,A.V., Petrukhin,K.E., Akopyanz,N.S., Modyanov,N.N. and Ovchinnikov,Yu.A.
Journal FEBS Lett. 221 (1), 129-133 (1987)
Title [The family of human Na+,K+-ATPase genes. Structure of the gene for isozyme alphaII] .
Author Sverdlov,E.D., Monastyrskaia,G.S., Broude,N.E., Ushkarev,Iu.A. and Melkov,A.M.
Journal Dokl. Akad. Nauk SSSR 297 (6), 1488-1494 (1987)


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