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Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000806 Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12

*Business Day

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RefSeq Version NM_000806.5, 189083722
Length 4376 bp
Structure linear
Update Date 29-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.
Product gamma-aminobutyric acid receptor subunit alpha-1 precursor
Comment

Summary: This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (1) uses the 5'-most alternate exon in the 5' UTR. Variants 1-7 encode the same protein.

RefSeq NP_000797.2
CDS 469..1839
Misc Feature(1)451..453
Misc Feature(2)508..1794
Misc Feature(3)595..1218
Misc Feature(4)1222..1287
Misc Feature(5)1237..>1488
Misc Feature(6)1303..1368
Misc Feature(7)1405..1470
Misc Feature(8)<1714..1785
Misc Feature(9)1732..1797
Exon (1)1..221
Gene:GABRA1
Gene Synonym:ECA4; EJM; EJM5
Exon (2)222..453
Gene:GABRA1
Gene Synonym:ECA4; EJM; EJM5
Exon (3)454..542
Gene:GABRA1
Gene Synonym:ECA4; EJM; EJM5
Exon (4)543..655
Gene:GABRA1
Gene Synonym:ECA4; EJM; EJM5
Exon (5)656..723
Gene:GABRA1
Gene Synonym:ECA4; EJM; EJM5
Exon (6)724..944
Gene:GABRA1
Gene Synonym:ECA4; EJM; EJM5
Exon (7)945..1027
Gene:GABRA1
Gene Synonym:ECA4; EJM; EJM5
Exon (8)1028..1171
Gene:GABRA1
Gene Synonym:ECA4; EJM; EJM5
Exon (9)1172..1324
Gene:GABRA1
Gene Synonym:ECA4; EJM; EJM5
Exon (10)1325..1527
Gene:GABRA1
Gene Synonym:ECA4; EJM; EJM5
Exon (11)1528..4376
Gene:GABRA1
Gene Synonym:ECA4; EJM; EJM5
Translation MRKSPGLSDCLWAWILLLSTLTGRSYGQPSLQDELKDNTTVFTRILDRLLDGYDNRLRPG LGERVTEVKTDIFVTSFGPVSDHDMEYTIDVFFRQSWKDERLKFKGPMTVLRLNNLMASK IWTPDTFFHNGKKSVAHNMTMPNKLLRITEDGTLLYTMRLTVRAECPMHLEDFPMDAHAC PLKFGSYAYTRAEVVYEWTREPARSVVVAEDGSRLNQYDLLGQTVDSGIVQSSTGEYVVM TTHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVPARTVFGVTTVLTMTTLSISA RNSLPKVAYATAMDWFIAVCYAFVFSALIEFATVNYFTKRGYAWDGKSVVPEKPKKVKDP LIKKNNTYAPTATSYTPNLARGDPGLATIAKSATIEPKEVKPETKPPEPKKTFNSVSKID RLSRIAFPLLFGIFNLVYWATYLNREPQLKAPTPHQ
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Position Chain Variation Link
20..21+dbSNP:
20..21+, cdbSNP:141813020
20+c, gdbSNP:190043578
20+, gdbSNP:201310567
21+c, gdbSNP:11576000
22..23+, cdbSNP:199848639
22+c, gdbSNP:184629690
23+c, gdbSNP:28364635
28+, adbSNP:112361424
28+a, gdbSNP:11576001
64+c, tdbSNP:181962869
98+a, gdbSNP:185145997
167+a, cdbSNP:189181924
249+dbSNP:
249+c, tdbSNP:186477194
327+a, gdbSNP:12658835
416+a, cdbSNP:75583203
438+c, tdbSNP:4608967
476+a, gdbSNP:111452646
495+a, cdbSNP:113886269
536+c, gdbSNP:199819387
543+dbSNP:
543+a, c, tdbSNP:75423500
553+c, tdbSNP:143815396
554+c, tdbSNP:200218956
564+a, gdbSNP:76224028
624+c, tdbSNP:1129647
661+dbSNP:
661+a, gdbSNP:11549458
684+c, tdbSNP:200716712
733+dbSNP:
733+a, gdbSNP:146428720
832+c, tdbSNP:1129648
853+c, tdbSNP:146134200
886+a, gdbSNP:199689997
907+c, tdbSNP:139163545
909+g, tdbSNP:190024862
969+dbSNP:
969+a, gdbSNP:200750234
986..987+, cdbSNP:35223687
987..988+, cdbSNP:138145692
1290+dbSNP:
1290+c, tdbSNP:142477850
1308+a, gdbSNP:150497014
1314+a, gdbSNP:139467768
1333+dbSNP:
1333+a, tdbSNP:189199636
1354+c, tdbSNP:149677108
1433+a, cdbSNP:121434579
1434+c, tdbSNP:201133616
1440+g, tdbSNP:145617915
1476+c, tdbSNP:200228901
1547+dbSNP:
1547+a, cdbSNP:80337021
1554+c, tdbSNP:187648029
1614+c, tdbSNP:79593368
1623+a, cdbSNP:41308303
1693+c, tdbSNP:139793542
1752+a, gdbSNP:74873701
1790+c, tdbSNP:145217327
1791+a, gdbSNP:138259457
1818+a, gdbSNP:142385746
1878+a, gdbSNP:201409177
1963+a, gdbSNP:190770358
2024+a, cdbSNP:2168775
2121+a, cdbSNP:34235595
2164+a, tdbSNP:76047934
2272+c, gdbSNP:140183311
2281+a, tdbSNP:41311749
2309+a, gdbSNP:2290732
2406..2407+, adbSNP:113406057
2407+a, gdbSNP:80203789
2478+a, gdbSNP:187108662
2691+c, tdbSNP:190302700
2720+g, tdbSNP:141928377
2776+a, cdbSNP:41315924
2785+a, cdbSNP:139554086
2827+a, gdbSNP:182930988
2848+a, gdbSNP:142860832
3220+c, tdbSNP:187522588
3287+c, tdbSNP:193210849
3345+g, tdbSNP:998754
3536+a, gdbSNP:75337618
3591+g, tdbSNP:41303356
3596+a, cdbSNP:151076324
3633+c, gdbSNP:77720837
3634+c, tdbSNP:75746434
3660+g, tdbSNP:10059108
3768+c, tdbSNP:2290733
3788+a, tdbSNP:41311747
3848+c, gdbSNP:139565984
3874+a, gdbSNP:73317010
3937+c, tdbSNP:147837301
3964+g, tdbSNP:189237787
3998+, tdbSNP:149385481
4029+g, tdbSNP:192225130
4053+a, gdbSNP:141464277
4127..4128+, cdbSNP:35777559
Gene SymbolGABRA1
Gene SynonymECA4; EJM; EJM5
Chromosome5
Locus Map5q34
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000806 Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA. In-stock $509.00 $460.00 12
NM_001127643 Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 2, mRNA. In-stock $509.00 $460.00 12
NM_001127644 Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 3, mRNA. In-stock $509.00 $460.00 12
NM_001127645 Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 4, mRNA. In-stock $509.00 $460.00 12
NM_001127648 Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 7, mRNA. In-stock $509.00 $460.00 12
Title miR-155 is up-regulated in primary and secondary glioblastoma and promotes tumour growth by inhibiting GABA receptors .
Author D'Urso,P.I., D'Urso,O.F., Storelli,C., Mallardo,M., Gianfreda,C.D., Montinaro,A., Cimmino,A., Pietro,C. and Marsigliante,S.
Journal Int. J. Oncol. 41 (1), 228-234 (2012)
Title [Relationship between gene polymorphism of GABAA receptors gene and childhood autism] .
Author Lu,G.B., Ou,P., Xu,L.P., Huang,H.L., Cheng,L., Yang,S.W., Qian,Q.F., Huang,Y., Xie,Y.Q., Yu,Q.J., Wang,Z.Q. and Lin,Y.
Journal Zhonghua Yu Fang Yi Xue Za Zhi 46 (5), 460-464 (2012)
Title Mapping general anesthetic binding site(s) in human alpha1beta3 gamma-aminobutyric acid type A receptors with [(3)H]TDBzl-etomidate, a photoreactive etomidate analogue .
Author Chiara,D.C., Dostalova,Z., Jayakar,S.S., Zhou,X., Miller,K.W. and Cohen,J.B.
Journal Biochemistry 51 (4), 836-847 (2012)
Title Down-regulation of GABA(A) receptor via promiscuity with the vasoactive peptide urotensin II receptor. Potential involvement in astrocyte plasticity .
Author Desrues,L., Lefebvre,T., Lecointre,C., Schouft,M.T., Leprince,J., Compere,V., Morin,F., Proust,F., Gandolfo,P., Tonon,M.C. and Castel,H.
Journal PLoS ONE 7 (5), E36319 (2012)
Title [The expression of GABA(A) receptor alpha1 and GABA(B) receptor 1 in medulla oblongata solitary nucleus and ambiguous nucleus in the cases of tramadol intoxication] .
Author Zhang,S., Guan,D.W., Wang,L., Wang,H.X., Zhang,G.H., Zhao,R. and Fan,Y.Y.
Journal Fa Yi Xue Za Zhi 27 (6), 401-404 (2011)
Title gamma-Aminobutyric acidA receptors displaying association of gamma 3-subunits with beta 2/3 and different alpha-subunits exhibit unique pharmacological properties .
Author Togel,M., Mossier,B., Fuchs,K. and Sieghart,W.
Journal J. Biol. Chem. 269 (17), 12993-12998 (1994)
Title Isolation and characterization of the promoter of the human GABAA receptor alpha 1 subunit gene .
Author Kang,I., Lindquist,D.G., Kinane,T.B., Ercolani,L., Pritchard,G.A. and Miller,L.G.
Journal J. Neurochem. 62 (4), 1643-1646 (1994)
Title Confirmation of the localization of the human GABAA receptor alpha 1-subunit gene (GABRA1) to distal 5q by linkage analysis .
Author Johnson,K.J., Sander,T., Hicks,A.A., van Marle,A., Janz,D., Mullan,M.J., Riley,B.P. and Darlison,M.G.
Journal Genomics 14 (3), 745-748 (1992)
Title Sequence and expression of human GABAA receptor alpha 1 and beta 1 subunits .
Author Schofield,P.R., Pritchett,D.B., Sontheimer,H., Kettenmann,H. and Seeburg,P.H.
Journal FEBS Lett. 244 (2), 361-364 (1989)
Title Isolation of a cDNA clone for the alpha subunit of the human GABA-A receptor .
Author Garrett,K.M., Duman,R.S., Saito,N., Blume,A.J., Vitek,M.P. and Tallman,J.F.
Journal Biochem. Biophys. Res. Commun. 156 (2), 1039-1045 (1988)


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