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Homo sapiens sodium channel, non-voltage-gated 1 alpha subunit (SCNN1A), transcript variant 1, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu19374 Homo sapiens sodium channel, non-voltage-gated 1 alpha subunit (SCNN1A), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand $279.00 12-14
OHu19374C Homo sapiens sodium channel, non-voltage-gated 1 alpha subunit (SCNN1A), transcript variant 1, mRNA. Customized vector On-demand $329.00 12-14

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Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_001038.5, 227430285
Length 2010 bp
Structure linear
Update Date 03-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens sodium channel, non-voltage-gated 1 alpha subunit (SCNN1A), transcript variant 1, mRNA.
Product amiloride-sensitive sodium channel subunit alpha isoform 1
Comment

Summary: Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2009].


Transcript Variant: This variant (1, also known as alpha-ENaC1) represents the predominant transcript, and encodes isoform 1.

RefSeq NP_001029.1
CDS 290..2299
Misc Feature(1)164..166
Misc Feature(2)449..2230
Misc Feature(3)449..2230
Misc Feature(4)473..2005
Misc Feature(5)548..619
Misc Feature(6)1919..2011
Exon (1)1..235
Gene:SCNN1A
Gene Synonym:BESC2; ENaCa; ENaCalpha; SCNEA; SCNN1
Exon (2)236..705
Gene:SCNN1A
Gene Synonym:BESC2; ENaCa; ENaCalpha; SCNEA; SCNN1
Exon (3)706..973
Gene:SCNN1A
Gene Synonym:BESC2; ENaCa; ENaCalpha; SCNEA; SCNN1
Exon (4)974..1164
Gene:SCNN1A
Gene Synonym:BESC2; ENaCa; ENaCalpha; SCNEA; SCNN1
Exon (5)1165..1268
Gene:SCNN1A
Gene Synonym:BESC2; ENaCa; ENaCalpha; SCNEA; SCNN1
Exon (6)1269..1432
Gene:SCNN1A
Gene Synonym:BESC2; ENaCa; ENaCalpha; SCNEA; SCNN1
Exon (7)1433..1531
Gene:SCNN1A
Gene Synonym:BESC2; ENaCa; ENaCalpha; SCNEA; SCNN1
Exon (8)1532..1649
Gene:SCNN1A
Gene Synonym:BESC2; ENaCa; ENaCalpha; SCNEA; SCNN1
Exon (9)1650..1728
Gene:SCNN1A
Gene Synonym:BESC2; ENaCa; ENaCalpha; SCNEA; SCNN1
Exon (10)1729..1786
Gene:SCNN1A
Gene Synonym:BESC2; ENaCa; ENaCalpha; SCNEA; SCNN1
Exon (11)1787..1842
Gene:SCNN1A
Gene Synonym:BESC2; ENaCa; ENaCalpha; SCNEA; SCNN1
Exon (12)1843..1918
Gene:SCNN1A
Gene Synonym:BESC2; ENaCa; ENaCalpha; SCNEA; SCNN1
Exon (13)1919..3329
Gene:SCNN1A
Gene Synonym:BESC2; ENaCa; ENaCalpha; SCNEA; SCNN1
Translation MEGNKLEEQDSSPPQSTPGLMKGNKREEQGLGPEPAAPQQPTAEEEALIEFHRSYRELFE FFCNNTTIHGAIRLVCSQHNRMKTAFWAVLWLCTFGMMYWQFGLLFGEYFSYPVSLNINL NSDKLVFPAVTICTLNPYRYPEIKEELEELDRITEQTLFDLYKYSSFTTLVAGSRSRRDL RGTLPHPLQRLRVPPPPHGARRARSVASSLRDNNPQVDWKDWKIGFQLCNQNKSDCFYQT YSSGVDAVREWYRFHYINILSRLPETLPSLEEDTLGNFIFACRFNQVSCNQANYSHFHHP MYGNCYTFNDKNNSNLWMSSMPGINNGLSLMLRAEQNDFIPLLSTVTGARVMVHGQDEPA FMDDGGFNLRPGVETSISMRKETLDRLGGDYGDCTKNGSDVPVENLYPSKYTQQVCIHSC FQESMIKECGCAYIFYPRPQNVEYCDYRKHSSWGYCYYKLQVDFSSDHLGCFTKCRKPCS VTSYQLSAGYSRWPSVTSQEWVFQMLSRQNNYTVNNKRNGVAKVNIFFKELNYKTNSESP SVTMVTLLSNLGSQWSLWFGSSVLSVVEMAELVFDLLVIMFLMLLRRFRSRYWSPGRGGR GAQEVASTLASSPPSHFCPHPMSLSLSQPGPAPSPALTAPPPAYATLGPRPSPGGSAGAS SSTCPLGGP
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Position Chain Variation Link
complement(13)-dbSNP:
complement(13)-g, adbSNP:372410235
complement(14)-t, cdbSNP:72645142
complement(37)-g, adbSNP:72645141
51+a, gdbSNP:142967664
complement(70)-g, cdbSNP:148940975
complement(78)-t, cdbSNP:56130137
complement(93)-g, adbSNP:72645140
complement(104)-g, adbSNP:72645139
complement(134)-t, g, adbSNP:72645138
complement(135)-t, cdbSNP:72645137
complement(177)-t, cdbSNP:72645136
complement(187)-g, adbSNP:375596606
complement(197)-t, cdbSNP:10849447
complement(198)-g, cdbSNP:111613196
complement(199)-g, cdbSNP:112539501
complement(231)-g, cdbSNP:72645135
complement(242)-dbSNP:
complement(242)-t, cdbSNP:150809388
complement(262)-t, cdbSNP:61759919
complement(265)-t, cdbSNP:369609706
complement(267)-g, cdbSNP:377074479
complement(292)-t, cdbSNP:111550798
complement(315)-t, cdbSNP:142937915
complement(325)-t, gdbSNP:372909867
complement(360)-t, cdbSNP:148581573
complement(366)-t, cdbSNP:72645127
complement(388)-t, cdbSNP:13306619
complement(389)-t, cdbSNP:72645126
complement(415)-t, cdbSNP:138995556
complement(416)-t, cdbSNP:146187461
complement(418)-t, cdbSNP:375919815
complement(422)-g, cdbSNP:200068111
complement(432)-c, adbSNP:185241340
complement(436)-g, adbSNP:200770604
complement(447)-t, cdbSNP:201823143
472+a, cdbSNP:61758859
complement(487)-t, gdbSNP:374032839
complement(497)-c, adbSNP:370299321
complement(499)-g, adbSNP:368475363
complement(502)-g, adbSNP:374270705
complement(505)-g, adbSNP:138613452
530+c, tdbSNP:61759860
complement(538)-t, cdbSNP:371611492
complement(541)-t, cdbSNP:376913356
complement(607)-g, adbSNP:148261445
complement(608)-t, cdbSNP:144763378
629+a, gdbSNP:61759861
complement(655)-t, cdbSNP:373834849
complement(674)-c, adbSNP:141756749
complement(705)-t, cdbSNP:370256768
complement(773)-dbSNP:
complement(773)-g, adbSNP:201532601
complement(829)-c, adbSNP:55859427
complement(830)-g, adbSNP:55797039
complement(832)-t, cdbSNP:148904855
complement(856)-c, adbSNP:199573198
complement(857)-g, adbSNP:201246087
complement(883)-g, adbSNP:372705087
complement(903)-t, cdbSNP:147866964
complement(938)-t, cdbSNP:200510319
complement(1035)-dbSNP:
complement(1035)-t, cdbSNP:142409152
complement(1044)-t, cdbSNP:180729483
complement(1047)-t, cdbSNP:72645111
complement(1072)-t, cdbSNP:72645110
complement(1094)-g, adbSNP:147702347
complement(1095)-g, adbSNP:72645109
complement(1100)-t, cdbSNP:375898173
complement(1110)-g, adbSNP:150033111
complement(1111)-t, cdbSNP:372634287
complement(1129)-g, adbSNP:139335335
complement(1130)-g, cdbSNP:201553658
complement(1137)-t, cdbSNP:368942111
complement(1267)-dbSNP:
complement(1267)-g, adbSNP:61731141
complement(1286)-dbSNP:
complement(1286)-g, adbSNP:146177203
complement(1289)-t, cdbSNP:11542844
complement(1298)-t, cdbSNP:375310967
complement(1312)-g, cdbSNP:371971622
complement(1324)-t, cdbSNP:199671336
complement(1337)-g, adbSNP:181065138
complement(1341)-g, adbSNP:139861603
complement(1351)-g, adbSNP:199947703
complement(1352)-t, cdbSNP:189376498
complement(1363)-t, cdbSNP:149430403
complement(1367)-c, adbSNP:375159701
complement(1396)-g, cdbSNP:369734906
complement(1398)-t, cdbSNP:372873824
complement(1406)-t, cdbSNP:368471914
1418+a, gdbSNP:193920773
complement(1443)-dbSNP:
complement(1443)-t, cdbSNP:201214012
complement(1449)-g, adbSNP:373986349
complement(1457)-t, cdbSNP:200557019
complement(1465)-g, adbSNP:72657575
complement(1472)-t, cdbSNP:201365745
complement(1474)-t, g, cdbSNP:202151383
1494+a, cdbSNP:13306616
complement(1494)-t, gdbSNP:386528019
complement(1505)-t, gdbSNP:149484264
complement(1529)-g, adbSNP:138011635
complement(1578)-dbSNP:
complement(1578)-t, cdbSNP:200026546
complement(1588)-g, adbSNP:375712066
complement(1596)-t, gdbSNP:372997123
complement(1650)-dbSNP:
complement(1650)-c, adbSNP:72657557
complement(1683)-g, adbSNP:369382063
complement(1715)-g, adbSNP:113622727
complement(1716)-t, cdbSNP:72657556
complement(1724)-g, adbSNP:201873521
complement(1729)-dbSNP:
complement(1729)-g, adbSNP:146304310
complement(1730)-t, cdbSNP:201693951
complement(1764)-c, adbSNP:372568407
1766+c, tdbSNP:5742912
complement(1773)-g, adbSNP:148749888
complement(1774)-t, gdbSNP:386585793
1774+g, tdbSNP:3764873
complement(1775)-t, cdbSNP:200923755
complement(1809)-dbSNP:
complement(1809)-g, adbSNP:148959452
complement(1810)-t, cdbSNP:368914240
1811+c, tdbSNP:137852634
complement(1828)-g, adbSNP:138108545
complement(1848)-dbSNP:
complement(1848)-g, cdbSNP:72657550
1871..1873+, ttcdbSNP:61759913
complement(1888)-g, adbSNP:374460984
1899+c, tdbSNP:11542843
complement(1917)-g, adbSNP:72657549
1974+dbSNP:
1974+c, tdbSNP:137852635
complement(1975)-t, cdbSNP:199526819
complement(1982)-t, adbSNP:200443896
complement(1995)-g, adbSNP:72657541
complement(2006)-t, cdbSNP:59142484
complement(2022)-g, adbSNP:367983061
complement(2050)-c, adbSNP:201759987
complement(2061)-t, cdbSNP:140175017
complement(2079)-t, cdbSNP:202038572
complement(2083)-t, cdbSNP:200891555
complement(2085)-g, cdbSNP:72657540
complement(2142)-c, adbSNP:3741913
complement(2224)-g, adbSNP:370406973
complement(2238)-t, cdbSNP:367681929
complement(2275)-t, cdbSNP:17846607
2276+a, gdbSNP:2228576
complement(2308)-t, cdbSNP:72657539
complement(2342)-t, cdbSNP:370593306
complement(2350)-t, cdbSNP:377669906
complement(2362)-t, cdbSNP:188694128
complement(2369)-g, adbSNP:72657538
complement(2375)-t, cdbSNP:183604895
complement(2412)-g, adbSNP:62620999
complement(2457)-g, adbSNP:188712065
complement(2556)-t, cdbSNP:374436303
complement(2595)-g, adbSNP:55981728
complement(2596)-t, cdbSNP:370775523
complement(2635)-t, cdbSNP:72657537
complement(2651)-t, cdbSNP:72657536
complement(2766)-t, gdbSNP:140681881
complement(2791..2792)-, gdbSNP:71450140
complement(2808)-c, adbSNP:150966071
complement(2836)-g, adbSNP:72657535
complement(2864)-g, adbSNP:72657534
complement(2887)-t, cdbSNP:192846033
complement(2932)-c, adbSNP:62618735
complement(3111)-t, cdbSNP:72657533
complement(3149)-g, adbSNP:62627411
complement(3213)-t, cdbSNP:62619209
complement(3219)-g, adbSNP:72657532
complement(3263)-t, cdbSNP:72657531
complement(3287)-g, cdbSNP:72657530
complement(3311..3314)-, aacadbSNP:398088152
complement(3315..3318)-, aacadbSNP:58510764
complement(3317..3319)-, caadbSNP:201016824
Gene SymbolSCNN1A
Gene SynonymBESC2; ENaCa; ENaCalpha; SCNEA; SCNN1
Chromosome12
Locus Map12p13
Title Gene regulation by glucocorticoid in ENaC-mediated Na(+) transport by middle ear epithelial cells .
Author Kim BG, Kim JY, Kim M, Kim CH, Choi JY and Kim SH.
Journal Laryngoscope 124 (2), E27-E33 (2014)
Title Molecular basis for pH-dependent mucosal dehydration in cystic fibrosis airways .
Author Garland AL, Walton WG, Coakley RD, Tan CD, Gilmore RC, Hobbs CA, Tripathy A, Clunes LA, Bencharit S, Stutts MJ, Betts L, Redinbo MR and Tarran R.
Journal Proc. Natl. Acad. Sci. U.S.A. 110 (40), 15973-15978 (2013)
Title WNK4 inhibition of ENaC is independent of Nedd4-2-mediated ENaC ubiquitination .
Author Yu L, Cai H, Yue Q, Alli AA, Wang D, Al-Khalili O, Bao HF and Eaton DC.
Journal Am. J. Physiol. Renal Physiol. 305 (1), F31-F41 (2013)
Title The Lhs1/GRP170 chaperones facilitate the endoplasmic reticulum-associated degradation of the epithelial sodium channel .
Author Buck TM, Plavchak L, Roy A, Donnelly BF, Kashlan OB, Kleyman TR, Subramanya AR and Brodsky JL.
Journal J. Biol. Chem. 288 (25), 18366-18380 (2013)
Title Novel mutations in the SCNN1A gene causing Pseudohypoaldosteronism type 1 .
Author Wang J, Yu T, Yin L, Li J, Yu L, Shen Y, Yu Y, Shen Y and Fu Q.
Journal PLoS ONE 8 (6), E65676 (2013)
Title Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease .
Author Azad AK, Rauh R, Vermeulen F, Jaspers M, Korbmacher J, Boissier B, Bassinet L, Fichou Y, des Georges M, Stanke F, De Boeck K, Dupont L, Balascakova M, Hjelte L, Lebecque P, Radojkovic D, Castellani C, Schwartz M, Stuhrmann M, Schwarz M, Skalicka V, de Monestrol I, Girodon E, Ferec C, Claustres M, Tummler B, Cassiman JJ, Korbmacher
Journal Hum. Mutat. 30 (7), 1093-1103 (2009)
Title Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1 .
Author Chang SS, Grunder S, Hanukoglu A, Rosler A, Mathew PM, Hanukoglu I, Schild L, Lu Y, Shimkets RA, Nelson-Williams C, Rossier BC and Lifton RP.
Journal Nat. Genet. 12 (3), 248-253 (1996)
Title SCNN1, an epithelial cell sodium channel gene in the conserved linkage group on mouse chromosome 6 and human chromosome 12 .
Author Meisler MH, Barrow LL, Canessa CM and Rossier BC.
Journal Genomics 24 (1), 185-186 (1994)
Title Cloning, expression, and tissue distribution of a human amiloride-sensitive Na+ channel .
Author McDonald FJ, Snyder PM, McCray PB Jr and Welsh MJ.
Journal Am. J. Physiol. 266 (6 PT 1), L728-L734 (1994)
Title The lung amiloride-sensitive Na+ channel: biophysical properties, pharmacology, ontogenesis, and molecular cloning .
Author Voilley N, Lingueglia E, Champigny G, Mattei MG, Waldmann R, Lazdunski M and Barbry P.
Journal Proc. Natl. Acad. Sci. U.S.A. 91 (1), 247-251 (1994)

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