• THAT   AND
  • THAT   AND


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


RefSeq Accession Definition Sequence Price Select
NM_000806 Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA. Full Lenth $1531.60
ORF Sequence $397.59


RefSeq Version NM_000806.5, 189083722
Length 4376 bp
Structure linear
Update Date 12-MAR-2011
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].


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
Exon (1)1..221
Exon (2)1..221
Exon (3)222..453
Exon (4)454..542
Exon (5)543..655
Exon (6)656..723
Exon (7)724..944
Exon (8)945..1027
Exon (9)1028..1171
Exon (10)1172..1324
Exon (11)1325..1527
Exon (12)1528..4376
Translation MRKSPGLSDCLWAWILLLSTLTGRSYGQPSLQDELKDNTTVFTRILDRLLDGYDNRLRPG LGERVTEVKTDIFVTSFGPVSDHDMEYTIDVFFRQSWKDERLKFKGPMTVLRLNNLMASK IWTPDTFFHNGKKSVAHNMTMPNKLLRITEDGTLLYTMRLTVRAECPMHLEDFPMDAHAC PLKFGSYAYTRAEVVYEWTREPARSVVVAEDGSRLNQYDLLGQTVDSGIVQSSTGEYVVM TTHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVPARTVFGVTTVLTMTTLSISA RNSLPKVAYATAMDWFIAVCYAFVFSALIEFATVNYFTKRGYAWDGKSVVPEKPKKVKDP LIKKNNTYAPTATSYTPNLARGDPGLATIAKSATIEPKEVKPETKPPEPKKTFNSVSKID RLSRIAFPLLFGIFNLVYWATYLNREPQLKAPTPHQ
Order your protein of interest with our Guaranteed or It's Free Service now! For details, please click here.
Position Chain Variation Link
20+c, gdbSNP:78561671
21+c, gdbSNP:11576000
23+c, gdbSNP:28364635
28+a, gdbSNP:11576001
31+, adbSNP:112361424
327+a, gdbSNP:12658835
416+a, cdbSNP:75583203
438+c, tdbSNP:4608967
476+a, gdbSNP:111452646
495+a, cdbSNP:113886269
543+a, cdbSNP:75423500
564+a, gdbSNP:76224028
624+c, tdbSNP:35166395
832+c, tdbSNP:1129648
886+a, gdbSNP:114536060
986..987+, cdbSNP:35223687
1433+a, cdbSNP:121434579
1547+a, cdbSNP:80337021
1614+c, tdbSNP:79593368
1623+a, cdbSNP:41308303
1752+a, gdbSNP:74873701
1856+a, cdbSNP:75679273
2024+a, cdbSNP:2168775
2121+a, cdbSNP:34235595
2164+a, tdbSNP:76047934
2281+a, tdbSNP:41311749
2309+a, gdbSNP:2290732
2338+g, tdbSNP:76835670
2406..2407+, adbSNP:113406057
2407+a, gdbSNP:80203789
2776+a, cdbSNP:41315924
complement(3345)-t, gdbSNP:998754
3536+a, gdbSNP:75337618
3591+g, tdbSNP:41303356
3633+c, gdbSNP:77720837
3634+c, tdbSNP:75746434
3660+g, tdbSNP:10059108
3768+c, tdbSNP:2290733
3788+a, tdbSNP:41311747
3874+a, gdbSNP:73317010
4123+a, gdbSNP:79312868
4127..4128+, cdbSNP:35777559
Gene SymbolGABRA1
Gene SynonymECA4; EJM; EJM5
Chromosome5
Locus Map5q34-q35
All Transcripts NM_000806 , NM_001127644 , NM_001127645 , NM_001127647 , NM_001127648 , NM_001127643 , NM_001127646
Title Protein kinase C phosphorylation regulates membrane insertion of .
Author Abramian,A.M., Comenencia-Ortiz,E., Vithlani,M., Tretter,E.V., Sieghart,W., Davies,P.A. and Moss,S.J.
Journal J. Biol. Chem. 285 (53), 41795-41805 (2010)
Title Altered GABA(A) receptor subunit expression and pharmacology in human Angelman syndrome cortex .
Author Roden,W.H., Peugh,L.D. and Jansen,L.A.
Journal Neurosci. Lett. 483 (3), 167-172 (2010)
Title Variation at the GABAA receptor gene, Rho 1 (GABRR1) associated with susceptibility to bipolar schizoaffective disorder .
Author Green,E.K., Grozeva,D., Moskvina,V., Hamshere,M.L., Jones,I.R., Jones,L., Forty,L., Caesar,S., Gordon-Smith,K., Fraser,C., Russell,E., St Clair,D., Young,A.H., Ferrier,N., Farmer,A., McGuffin,P., Holmans,P.A., Owen,M.J., O'Donovan,M.C. and Craddock,N.
Journal Am. J. Med. Genet. B Neuropsychiatr. Genet. 153B (7), 1347-1349 (2010)
Title Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study .
Author Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V., Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
Journal Diabetes Care 33 (10), 2250-2253 (2010)
Title Involvement and therapeutic potential of the GABAergic system in the fragile X syndrome .
Author Heulens,I., D'Hulst,C., Braat,S., Rooms,L. and Kooy,R.F.
Journal ScientificWorldJournal 10, 2198-2206 (2010)
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)

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

Secured Online Quotation
Email: gene@genscript.com
Phone: 1-877-436-7274 (Toll-Free) 1-732-885-9188
Fax: 1-732-210-0262 1-732-885-5878