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[1]
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NUCLEOTIDE SEQUENCE [MRNA].
DOI=10.1016/0014-5793(89)80563-0; PubMed=2465923 [NCBI, ExPASy, EBI, Israel, Japan]
Schofield P.R.,
Pritchett D.B.,
Sontheimer H.,
Kettenmann H.,
Seeburg P.H.;
"Sequence and expression of human GABAA receptor alpha 1 and beta 1 subunits.";
FEBS Lett. 244:361-364(1989).
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[2]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Brain;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[3]
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NUCLEOTIDE SEQUENCE [MRNA] OF 1-364.
TISSUE=Cerebellum;
DOI=10.1016/S0006-291X(88)80949-5; PubMed=2847710 [NCBI, ExPASy, EBI, Israel, Japan]
Garrett K.M.,
Duman R.S.,
Saito N.,
Blume A.J.,
Vitek M.P.,
Tallman J.F.;
"Isolation of a cDNA clone for the alpha subunit of the human GABA-A receptor.";
Biochem. Biophys. Res. Commun. 156:1039-1045(1988).
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[4]
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VARIANT EJM ASP-322.
DOI=10.1038/ng885; PubMed=11992121 [NCBI, ExPASy, EBI, Israel, Japan]
Cossette P.,
Liu L.,
Brisebois K.,
Dong H.,
Lortie A.,
Vanasse M.,
Saint-Hilaire J.-M.,
Carmant L.,
Verner A.,
Lu W.-Y.,
Tian Wang Y.,
Rouleau G.A.;
"Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy.";
Nat. Genet. 31:184-189(2002).
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[5]
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INVOLVEMENT IN ECA4.
DOI=10.1002/ana.20874; PubMed=16718694 [NCBI, ExPASy, EBI, Israel, Japan]
Maljevic S.,
Krampfl K.,
Cobilanschi J.,
Tilgen N.,
Beyer S.,
Weber Y.G.,
Schlesinger F.,
Ursu D.,
Melzer W.,
Cossette P.,
Bufler J.,
Lerche H.,
Heils A.;
"A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy.";
Ann. Neurol. 59:983-987(2006).
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- FUNCTION: GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel.
- SUBUNIT: Binds UBQLN1 (By similarity). Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho.
- SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.
- DISEASE: Defects in GABRA1 are a cause of juvenile myoclonic epilepsy (EJM) [MIM:606904]. EJM is a subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue.
- DISEASE: Defects in GABRA1 are the cause of childhood absence epilepsy type 4 (ECA4) [MIM:611136]. ECA4 is a subtype of idiopathic generalized epilepsy (IGE) characterized by onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. During adolescence, tonic-clonic and myoclonic seizures develop. Absence seizures may either remit or persist into adulthood.
- SIMILARITY: Belongs to the ligand-gated ionic channel (TC 1.A.9) family [view classification].
- WEB RESOURCE: Name=Protein Spotlight; Note=Forbidden fruit - Issue 56 of March 2005; URL="http://www.expasy.org/spotlight/back_issues/sptlt056.shtml";.
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Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms.
Distributed under the Creative Commons Attribution-NoDerivs License.
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| Length: 456 AA [This is the length of the unprocessed precursor] |
Molecular weight: 51802 Da [This is the MW of the unprocessed precursor] |
CRC64: F81EC9ECBE64E94D [This is a checksum on the sequence] |
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10 20 30 40 50 60
MRKSPGLSDC LWAWILLLST LTGRSYGQPS LQDELKDNTT VFTRILDRLL DGYDNRLRPG
70 80 90 100 110 120
LGERVTEVKT DIFVTSFGPV SDHDMEYTID VFFRQSWKDE RLKFKGPMTV LRLNNLMASK
130 140 150 160 170 180
IWTPDTFFHN GKKSVAHNMT MPNKLLRITE DGTLLYTMRL TVRAECPMHL EDFPMDAHAC
190 200 210 220 230 240
PLKFGSYAYT RAEVVYEWTR EPARSVVVAE DGSRLNQYDL LGQTVDSGIV QSSTGEYVVM
250 260 270 280 290 300
TTHFHLKRKI GYFVIQTYLP CIMTVILSQV SFWLNRESVP ARTVFGVTTV LTMTTLSISA
310 320 330 340 350 360
RNSLPKVAYA TAMDWFIAVC YAFVFSALIE FATVNYFTKR GYAWDGKSVV PEKPKKVKDP
370 380 390 400 410 420
LIKKNNTYAP TATSYTPNLA RGDPGLATIA KSATIEPKEV KPETKPPEPK KTFNSVSKID
430 440 450
RLSRIAFPLL FGIFNLVYWA TYLNREPQLK APTPHQ
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P14867 in FASTA format |
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ExPASy Home page
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