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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 25-MAY-2014
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..1785
Misc Feature(6)1303..1368
Misc Feature(7)1405..1470
Misc Feature(8)1732..1797
Exon (1)1..221
Gene:GABRA1
Gene Synonym:ECA4; EIEE19; EJM; EJM5
Exon (2)222..453
Gene:GABRA1
Gene Synonym:ECA4; EIEE19; EJM; EJM5
Exon (3)454..542
Gene:GABRA1
Gene Synonym:ECA4; EIEE19; EJM; EJM5
Exon (4)543..655
Gene:GABRA1
Gene Synonym:ECA4; EIEE19; EJM; EJM5
Exon (5)656..723
Gene:GABRA1
Gene Synonym:ECA4; EIEE19; EJM; EJM5
Exon (6)724..944
Gene:GABRA1
Gene Synonym:ECA4; EIEE19; EJM; EJM5
Exon (7)945..1027
Gene:GABRA1
Gene Synonym:ECA4; EIEE19; EJM; EJM5
Exon (8)1028..1171
Gene:GABRA1
Gene Synonym:ECA4; EIEE19; EJM; EJM5
Exon (9)1172..1324
Gene:GABRA1
Gene Synonym:ECA4; EIEE19; EJM; EJM5
Exon (10)1325..1527
Gene:GABRA1
Gene Synonym:ECA4; EIEE19; EJM; EJM5
Exon (11)1528..4376
Gene:GABRA1
Gene Synonym:ECA4; EIEE19; 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:372778562
28+a, gdbSNP:11576001
31+, adbSNP:112361424
64+c, tdbSNP:181962869
98+a, gdbSNP:185145997
131+a, gdbSNP:368385541
167+a, cdbSNP:189181924
249+dbSNP:
249+c, tdbSNP:186477194
327+a, gdbSNP:12658835
370..371+, gdbSNP:371702713
416+a, cdbSNP:75583203
438+c, tdbSNP:4608967
459+dbSNP:
459+c, gdbSNP:376699435
465+c, tdbSNP:375475234
468+a, gdbSNP:376266596
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
555+a, gdbSNP:374399356
564+a, gdbSNP:76224028
624+c, tdbSNP:1129647
661+dbSNP:
661+a, gdbSNP:11549458
684+c, tdbSNP:200716712
733+dbSNP:
733+a, gdbSNP:146428720
747+c, tdbSNP:267600528
766+a, gdbSNP:267600529
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
989..990+, cdbSNP:138145692
1080+dbSNP:
1080+c, tdbSNP:374616425
1140+a, gdbSNP:372742479
1290+dbSNP:
1290+c, tdbSNP:142477850
1308+a, gdbSNP:150497014
1314+a, gdbSNP:139467768
1333+dbSNP:
1333+a, tdbSNP:189199636
1354+c, tdbSNP:149677108
1376+c, tdbSNP:267600530
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
1580+c, tdbSNP:372570305
1590+c, tdbSNP:370816784
1609+a, cdbSNP:371470198
1614+c, tdbSNP:79593368
1615+a, gdbSNP:375377575
1623+a, cdbSNP:41308303
1686+a, gdbSNP:371392768
1693+c, tdbSNP:139793542
1697+a, gdbSNP:376031361
1752+a, gdbSNP:74873701
1790+c, tdbSNP:145217327
1791+a, gdbSNP:138259457
1818+a, gdbSNP:142385746
1866+c, gdbSNP:369682969
1878+a, gdbSNP:201409177
1963+a, gdbSNP:190770358
2024+a, cdbSNP:2168775
2121+a, cdbSNP:34235595
2164+a, tdbSNP:76047934
2237+a, cdbSNP:374845401
2272+c, gdbSNP:140183311
2281+a, tdbSNP:41311749
2309+a, gdbSNP:2290732
2350+a, gdbSNP:372806449
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
2810+a, cdbSNP:369546620
2827+a, gdbSNP:182930988
2848+a, gdbSNP:142860832
2900+c, tdbSNP:374002978
3018+c, tdbSNP:377728451
3220+c, tdbSNP:187522588
3287+c, tdbSNP:193210849
complement(3345)-t, gdbSNP: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
3735+a, tdbSNP:368099176
3768+c, tdbSNP:2290733
3788+a, tdbSNP:41311747
3794+c, tdbSNP:376130796
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; EIEE19; EJM; EJM5
Chromosome5
Locus Map5q34
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
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_001127643 Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 2, 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
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_001127644 Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 3, mRNA. In-stock $509.00 $460.00 12
Title GABRA1 and STXBP1: novel genetic causes of Dravet syndrome .
Author Carvill GL, Weckhuysen S, McMahon JM, Hartmann C, Moller RS, Hjalgrim H, Cook J, Geraghty E, O'Roak BJ, Petrou S, Clarke A, Gill D, Sadleir LG, Muhle H, von Spiczak S, Nikanorova M, Hodgson BL, Gazina EV, Suls A, Shendure J, Dibbens LM, De Jonghe P, Helbig I, Berkovic SF, Scheffer IE and Mefford HC.
Journal Neurology 82 (14), 1245-1253 (2014)
Title Specificity of intersubunit general anesthetic-binding sites in the transmembrane domain of the human alpha1beta3gamma2 gamma-aminobutyric acid type A (GABAA) receptor .
Author Chiara DC, Jayakar SS, Zhou X, Zhang X, Savechenkov PY, Bruzik KS, Miller KW and Cohen JB.
Journal J. Biol. Chem. 288 (27), 19343-19357 (2013)
Title The quest for juvenile myoclonic epilepsy genes .
Author Delgado-Escueta AV, Koeleman BP, Bailey JN, Medina MT and Duron RM.
Journal Epilepsy Behav 28 (SUPPL 1), S52-S57 (2013)
Title Association between GABA(A) receptor subunit gene cluster and zolpidem-induced complex sleep behaviors in Han Chinese .
Author Tsai JH, Yang P, Lin HH, Cheng KH, Yang YH, Wu MT and Chen CC.
Journal Sleep 36 (2), 197-202 (2013)
Title A unified model of the GABA(A) receptor comprising agonist and benzodiazepine binding sites .
Author Bergmann R, Kongsbak K, Sorensen PL, Sander T and Balle T.
Journal PLoS ONE 8 (1), E52323 (2013)
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 DG, Kinane TB, Ercolani L, Pritchard GA and Miller LG.
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 KJ, Sander T, Hicks AA, van Marle A, Janz D, Mullan MJ, Riley BP and Darlison MG.
Journal Genomics 14 (3), 745-748 (1992)
Title Sequence and expression of human GABAA receptor alpha 1 and beta 1 subunits .
Author Schofield PR, Pritchett DB, Sontheimer H, Kettenmann H and Seeburg PH.
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 KM, Duman RS, Saito N, Blume AJ, Vitek MP and Tallman JF.
Journal Biochem. Biophys. Res. Commun. 156 (2), 1039-1045 (1988)

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