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Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 2, mRNA.

RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000171 Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 2, mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12

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RefSeq Version NM_000171.3, 225690547
Length 1811 bp
Structure linear
Update Date 21-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 2, mRNA.
Product glycine receptor subunit alpha-1 isoform 2 precursor

Summary: The protein encoded by this gene is a subunit of a pentameric inhibitory glycine receptor. The receptor mediates postsynaptic inhibition in the central nervous system. Defects in this gene are a cause of startle disease (STHE), also known as hereditary hyperekplexia or congenital stiff-person syndrome. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009].

Transcript Variant: This variant (2) uses an alternate in-frame splice site at the 5' end of the last exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

RefSeq NP_000162.2
CDS 288..1637
Misc Feature(1)282..284
Misc Feature(2)306..1601
Misc Feature(3)306..1601
Misc Feature(4)411..1031
Misc Feature(5)960..977
Misc Feature(6)1029..1109
Misc Feature(7)1050..>1289
Misc Feature(8)1128..1181
Misc Feature(9)1224..1295
Misc Feature(10)<1350..1592
Misc Feature(11)1542..1544
Misc Feature(12)1548..1601
Exon (1)1..343
Gene Synonym:HKPX1; STHE
Exon (2)344..471
Gene Synonym:HKPX1; STHE
Exon (3)472..539
Gene Synonym:HKPX1; STHE
Exon (4)540..763
Gene Synonym:HKPX1; STHE
Exon (5)764..846
Gene Synonym:HKPX1; STHE
Exon (6)847..984
Gene Synonym:HKPX1; STHE
Exon (7)985..1199
Gene Synonym:HKPX1; STHE
Exon (8)1200..1346
Gene Synonym:HKPX1; STHE
Exon (9)1347..1797
Gene Synonym:HKPX1; STHE
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Position Chain Variation Link
complement(92)-t, cdbSNP:2071221
complement(186)-g, adbSNP:193282890
complement(277)-g, cdbSNP:202202750
complement(305)-t, adbSNP:200604203
complement(310)-g, cdbSNP:74542605
complement(326)-g, cdbSNP:141704405
complement(327)-t, cdbSNP:139362887
complement(376)-t, cdbSNP:199910297
complement(379)-g, adbSNP:200171902
complement(404)-g, cdbSNP:149023945
complement(430)-t, cdbSNP:151029950
complement(485)-g, adbSNP:200606738
complement(486)-t, cdbSNP:142888296
complement(545)-g, adbSNP:148952106
complement(564)-g, adbSNP:199547699
complement(575)-t, gdbSNP:281864912
complement(581)-t, gdbSNP:199639315
complement(585)-, cdbSNP:281864915
complement(586)-g, adbSNP:281864914
complement(625)-g, adbSNP:202233543
complement(677)-g, adbSNP:112970419
complement(722)-t, cdbSNP:143377552
complement(777)-g, adbSNP:201280023
complement(809)-g, adbSNP:114046477
complement(810)-g, adbSNP:121918414
complement(880)-g, cdbSNP:202247813
complement(944)-t, cdbSNP:146034962
complement(977)-c, adbSNP:121918415
complement(985)-g, adbSNP:2229962
complement(1010)-g, cdbSNP:76872663
complement(1019)-t, cdbSNP:112560122
complement(1024)-g, adbSNP:281864916
complement(1064)-g, cdbSNP:121918417
complement(1088)-g, cdbSNP:281864917
complement(1095)-g, adbSNP:201471742
complement(1102)-t, adbSNP:121918409
complement(1119)-c, adbSNP:121918413
complement(1125)-g, adbSNP:139058916
complement(1126)-g, adbSNP:281864918
complement(1149)-g, adbSNP:121918416
1169+c, g, tdbSNP:121918411
1171+a, gdbSNP:267606848
complement(1175)-t, g, adbSNP:192326771
complement(1179)-t, adbSNP:281864920
complement(1183)-t, g, adbSNP:121918408
complement(1197)-g, adbSNP:121918412
complement(1202)-t, cdbSNP:150716717
complement(1207)-g, c, adbSNP:121918410
complement(1208)-, tdbSNP:281864921
complement(1258)-c, adbSNP:121918418
complement(1280)-g, adbSNP:17112272
complement(1308)-g, cdbSNP:200218897
complement(1309)-t, cdbSNP:77451630
complement(1315)-g, adbSNP:148221542
complement(1317)-t, cdbSNP:281864913
complement(1318)-t, cdbSNP:199618583
complement(1319)-t, cdbSNP:78363193
complement(1327)-g, cdbSNP:147156518
complement(1328)-t, cdbSNP:75463357
complement(1333)-t, cdbSNP:139213838
complement(1369)-t, cdbSNP:147471585
complement(1380)-c, adbSNP:146911085
complement(1395)-t, cdbSNP:116474260
complement(1453)-t, gdbSNP:138173310
complement(1468)-g, adbSNP:62636581
complement(1480)-g, cdbSNP:140420721
complement(1497)-t, adbSNP:151276682
complement(1501)-t, cdbSNP:199561280
complement(1511)-g, adbSNP:62636580
complement(1545)-g, adbSNP:182383995
complement(1546)-g, adbSNP:281864919
complement(1583)-c, adbSNP:141039714
complement(1612)-t, cdbSNP:200130685
complement(1626)-t, gdbSNP:146481873
complement(1737)-g, adbSNP:184946186
complement(1740..1743)-, gtaadbSNP:144976473
Gene SymbolGLRA1
Gene SynonymHKPX1; STHE
Locus Map5q32
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000171 Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 2, mRNA. In-stock $509.00 $460.00 12
NM_001146040 Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA. On-demand $699.00 18
Title Glycine receptor autoimmune spectrum with stiff-man syndrome phenotype .
Author McKeon,A., Martinez-Hernandez,E., Lancaster,E., Matsumoto,J.Y., Harvey,R.J., McEvoy,K.M., Pittock,S.J., Lennon,V.A. and Dalmau,J.
Journal JAMA Neurol 70 (1), 44-50 (2013)
Title Inhibition of the ethanol-induced potentiation of alpha1 glycine receptor by a small peptide that interferes with Gbetagamma binding .
Author San Martin,L., Cerda,F., Jimenez,V., Fuentealba,J., Munoz,B., Aguayo,L.G. and Guzman,L.
Journal J. Biol. Chem. 287 (48), 40713-40721 (2012)
Title The importance of TM3-4 loop subdomains for functional reconstitution of glycine receptors by independent domains .
Author Unterer,B., Becker,C.M. and Villmann,C.
Journal J. Biol. Chem. 287 (46), 39205-39215 (2012)
Title Novel mutation of GLRA1 in Omani families with hyperekplexia and mild mental retardation .
Author Al-Futaisi,A.M., Al-Kindi,M.N., Al-Mawali,A.M., Koul,R.L., Al-Adawi,S. and Al-Yahyaee,S.A.
Journal Pediatr. Neurol. 46 (2), 89-93 (2012)
Title The alpha1K276E startle disease mutation reveals multiple intermediate states in the gating of glycine receptors .
Author Lape,R., Plested,A.J., Moroni,M., Colquhoun,D. and Sivilotti,L.G.
Journal J. Neurosci. 32 (4), 1336-1352 (2012)
Title Mutational analysis of familial and sporadic hyperekplexia .
Author Shiang,R., Ryan,S.G., Zhu,Y.Z., Fielder,T.J., Allen,R.J., Fryer,A., Yamashita,S., O'Connell,P. and Wasmuth,J.J.
Journal Ann. Neurol. 38 (1), 85-91 (1995)
Title Importance of Arg-219 for correct biogenesis of alpha 1 homooligomeric glycine receptors .
Author Langosch,D., Herbold,A., Schmieden,V., Borman,J. and Kirsch,J.
Journal FEBS Lett. 336 (3), 540-544 (1993)
Title Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis .
Author Ryan,S.G., Sherman,S.L., Terry,J.C., Sparkes,R.S., Torres,M.C. and Mackey,R.W.
Journal Ann. Neurol. 31 (6), 663-668 (1992)
Title Phosphorylation of the 48-kDa subunit of the glycine receptor by protein kinase C .
Author Ruiz-Gomez,A., Vaello,M.L., Valdivieso,F. and Mayor,F. Jr.
Journal J. Biol. Chem. 266 (1), 559-566 (1991)
Title Alpha subunit variants of the human glycine receptor: primary structures, functional expression and chromosomal localization of the corresponding genes .
Author Grenningloh,G., Schmieden,V., Schofield,P.R., Seeburg,P.H., Siddique,T., Mohandas,T.K., Becker,C.M. and Betz,H.
Journal EMBO J. 9 (3), 771-776 (1990)

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