• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001038 Homo sapiens sodium channel, non-voltage-gated 1 alpha subunit (SCNN1A), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $849.00 20

*Business Day

Related Services

RefSeq Version NM_001038.5, 227430285
Length 3345 bp
Structure linear
Update Date 29-APR-2013
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..2173
Misc Feature(3)449..2173
Misc Feature(4)548..619
Misc Feature(5)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
Order your protein of interest with our Guaranteed or It's Free Service now! For details, please click here.
Position Chain Variation Link
complement(14)-dbSNP:
complement(14)-t, cdbSNP:72645142
complement(37)-g, adbSNP:72645141
complement(51)-g, adbSNP: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(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(292)-t, cdbSNP:111550798
complement(315)-t, cdbSNP:142937915
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(422)-g, cdbSNP:200068111
complement(432)-c, adbSNP:185241340
complement(436)-g, adbSNP:200770604
complement(447)-t, cdbSNP:201823143
complement(472)-c, adbSNP:61758859
complement(504)-g, adbSNP:141606008
complement(505)-g, adbSNP:138613452
complement(530)-t, cdbSNP:61759860
complement(607)-g, adbSNP:148261445
complement(608)-t, cdbSNP:144763378
complement(629)-g, adbSNP:61759861
complement(674)-c, adbSNP:141756749
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(903)-t, cdbSNP:147866964
complement(907)-t, cdbSNP:146402291
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(1110)-g, adbSNP:150033111
complement(1129)-g, adbSNP:139335335
complement(1130)-g, cdbSNP:201553658
complement(1149)-g, adbSNP:151302962
complement(1267)-dbSNP:
complement(1267)-g, adbSNP:61731141
complement(1286)-dbSNP:
complement(1286)-g, adbSNP:146177203
complement(1289)-t, cdbSNP:11542844
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(1418)-g, adbSNP:193920773
complement(1443)-dbSNP:
complement(1443)-t, cdbSNP:201214012
complement(1457)-t, cdbSNP:200557019
complement(1465)-g, adbSNP:72657575
complement(1472)-t, cdbSNP:201365745
complement(1474)-g, cdbSNP:202151383
complement(1494)-c, adbSNP:13306616
complement(1505)-t, gdbSNP:149484264
complement(1529)-g, adbSNP:138011635
complement(1578)-dbSNP:
complement(1578)-t, cdbSNP:200026546
complement(1650)-dbSNP:
complement(1650)-c, adbSNP:72657557
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(1766)-t, cdbSNP:5742912
complement(1773)-g, adbSNP:148749888
complement(1774)-t, gdbSNP:3764873
complement(1775)-t, cdbSNP:200923755
complement(1793)-dbSNP:
complement(1793)-c, adbSNP:143688923
complement(1809)-g, adbSNP:148959452
complement(1811)-t, cdbSNP:137852634
complement(1828)-g, adbSNP:138108545
complement(1848)-dbSNP:
complement(1848)-g, cdbSNP:72657550
complement(1871..1873)-, ttcdbSNP:61759913
complement(1899)-t, cdbSNP:11542843
complement(1917)-g, adbSNP:72657549
complement(1974)-dbSNP:
complement(1974)-t, cdbSNP:137852635
complement(1975)-t, cdbSNP:199526819
complement(1982)-t, adbSNP:200443896
complement(1995)-g, adbSNP:72657541
complement(2006)-t, cdbSNP:59142484
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(2275)-t, cdbSNP:17846607
complement(2276)-g, adbSNP:2228576
complement(2293)-, gdbSNP:61759914
complement(2308)-t, cdbSNP:72657539
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(2595)-g, adbSNP:55981728
complement(2635)-t, cdbSNP:72657537
complement(2651)-t, cdbSNP:72657536
complement(2766)-t, gdbSNP:140681881
complement(2794..2795)-, 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(3315..3318)-, aacadbSNP:58510764
complement(3317..3319)-, caadbSNP:201016824
Gene SymbolSCNN1A
Gene SynonymBESC2; ENaCa; ENaCalpha; SCNEA; SCNN1
Chromosome12
Locus Map12p13
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001038 Homo sapiens sodium channel, non-voltage-gated 1 alpha subunit (SCNN1A), transcript variant 1, mRNA. On-demand $849.00 20
NM_001159575 Homo sapiens sodium channel, non-voltage-gated 1 alpha subunit (SCNN1A), transcript variant 3, mRNA. On-demand TBD TBD
NM_001159576 Homo sapiens sodium channel, non-voltage-gated 1 alpha subunit (SCNN1A), transcript variant 2, mRNA. On-demand TBD TBD
Title Ubiquitin-specific peptidase 8 (USP8) regulates endosomal trafficking of the epithelial Na+ channel .
Author Zhou,R., Tomkovicz,V.R., Butler,P.L., Ochoa,L.A., Peterson,Z.J. and Snyder,P.M.
Journal J. Biol. Chem. 288 (8), 5389-5397 (2013)
Title Urinary plasmin activates collecting duct ENaC current in preeclampsia .
Author Buhl,K.B., Friis,U.G., Svenningsen,P., Gulaveerasingam,A., Ovesen,P., Frederiksen-Moller,B., Jespersen,B., Bistrup,C. and Jensen,B.L.
Journal Hypertension 60 (5), 1346-1351 (2012)
Title Multiple residues in the distal C terminus of the alpha-subunit have roles in modulating human epithelial sodium channel activity .
Author Mueller,G.M., Yan,W., Copelovitch,L., Jarman,S., Wang,Z., Kinlough,C.L., Tolino,M.A., Hughey,R.P., Kleyman,T.R. and Rubenstein,R.C.
Journal Am. J. Physiol. Renal Physiol. 303 (2), F220-F228 (2012)
Title Activation of the epithelial Na+ channel triggers prostaglandin E(2) release and production required for embryo implantation .
Author Ruan,Y.C., Guo,J.H., Liu,X., Zhang,R., Tsang,L.L., Dong,J.D., Chen,H., Yu,M.K., Jiang,X., Zhang,X.H., Fok,K.L., Chung,Y.W., Huang,H., Zhou,W.L. and Chan,H.C.
Journal Nat. Med. 18 (7), 1112-1117 (2012)
Title An inhibitory peptide derived from the alpha-subunit of the epithelial sodium channel (ENaC) shows a helical conformation .
Author Haerteis,S., Schaal,D., Brauer,F., Bruschke,S., Schweimer,K., Rauh,R., Sticht,H., Rosch,P., Schwarzinger,S. and Korbmacher,C.
Journal Cell. Physiol. Biochem. 29 (5-6), 761-774 (2012)
Title Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease .
Author Azad,A.K., 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,J.J., Korbmacher,C. and Cuppens,H.
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,S.S., Grunder,S., Hanukoglu,A., Rosler,A., Mathew,P.M., Hanukoglu,I., Schild,L., Lu,Y., Shimkets,R.A., Nelson-Williams,C., Rossier,B.C. and Lifton,R.P.
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,M.H., Barrow,L.L., Canessa,C.M. and Rossier,B.C.
Journal Genomics 24 (1), 185-186 (1994)
Title Cloning, expression, and tissue distribution of a human amiloride-sensitive Na+ channel .
Author McDonald,F.J., Snyder,P.M., McCray,P.B. Jr. and Welsh,M.J.
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,M.G., Waldmann,R., Lazdunski,M. and Barbry,P.
Journal Proc. Natl. Acad. Sci. U.S.A. 91 (1), 247-251 (1994)


Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.

Learn more about the GenEZ ORF Cloning Service.