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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 25-MAY-2014
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
Comment

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. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014].


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)411..1031
Misc Feature(4)960..977
Misc Feature(5)1029..1109
Misc Feature(6)1050..1592
Misc Feature(7)1128..1181
Misc Feature(8)1224..1295
Misc Feature(9)1542..1544
Misc Feature(10)1548..1601
Exon (1)1..343
Gene:GLRA1
Gene Synonym:HKPX1; STHE
Exon (2)344..471
Gene:GLRA1
Gene Synonym:HKPX1; STHE
Exon (3)472..539
Gene:GLRA1
Gene Synonym:HKPX1; STHE
Exon (4)540..763
Gene:GLRA1
Gene Synonym:HKPX1; STHE
Exon (5)764..846
Gene:GLRA1
Gene Synonym:HKPX1; STHE
Exon (6)847..984
Gene:GLRA1
Gene Synonym:HKPX1; STHE
Exon (7)985..1199
Gene:GLRA1
Gene Synonym:HKPX1; STHE
Exon (8)1200..1346
Gene:GLRA1
Gene Synonym:HKPX1; STHE
Exon (9)1347..1797
Gene:GLRA1
Gene Synonym:HKPX1; STHE
Translation MYSFNTLRLYLWETIVFFSLAASKEAEAARSAPKPMSPSDFLDKLMGRTSGYDARIRPNF KGPPVNVSCNIFINSFGSIAETTMDYRVNIFLRQQWNDPRLAYNEYPDDSLDLDPSMLDS IWKPDLFFANEKGAHFHEITTDNKLLRISRNGNVLYSIRITLTLACPMDLKNFPMDVQTC IMQLESFGYTMNDLIFEWQEQGAVQVADGLTLPQFILKEEKDLRYCTKHYNTGKFTCIEA RFHLERQMGYYLIQMYIPSLLIVILSWISFWINMDAAPARVGLGITTVLTMTTQSSGSRA SLPKVSYVKAIDIWMAVCLLFVFSALLEYAAVNFVSRQHKELLRFRRKRRHHKEDEAGEG RFNFSAYGMGPACLQAKDGISVKGANNSNTTNPPPAPSKSPEEMRKLFIQRAKKIDKISR IGFPMAFLIFNMFYWIIYKIVRREDVHNQ
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Position Chain Variation Link
92+dbSNP:
92+c, tdbSNP:2071221
complement(186)-g, adbSNP:193282890
complement(233)-g, adbSNP:368269982
complement(277)-g, cdbSNP:202202750
complement(281)-g, adbSNP:377268097
complement(302)-t, adbSNP:373114110
complement(305)-t, adbSNP:200604203
complement(310)-g, cdbSNP:74542605
complement(312)-g, cdbSNP:370920306
complement(326)-g, cdbSNP:141704405
complement(337)-g, adbSNP:376426309
complement(375)-dbSNP:
complement(375)-t, gdbSNP:369873008
complement(376)-t, cdbSNP:199910297
complement(379)-g, adbSNP:200171902
complement(380)-g, adbSNP:376610236
complement(404)-g, cdbSNP:149023945
complement(411)-g, adbSNP:267600494
complement(430)-t, cdbSNP:151029950
complement(485)-dbSNP:
complement(485)-g, adbSNP:200606738
complement(486)-t, cdbSNP:142888296
complement(545)-dbSNP:
complement(545)-g, adbSNP:148952106
complement(564)-g, adbSNP:199547699
575+g, tdbSNP:281864912
complement(578)-g, adbSNP:375840161
complement(581)-t, gdbSNP:199639315
complement(584)-g, adbSNP:369500388
585+, cdbSNP:281864915
586+a, gdbSNP:281864914
complement(597)-t, cdbSNP:374949730
complement(625)-g, adbSNP:202233543
complement(626)-t, cdbSNP:374319634
complement(677)-g, adbSNP:112970419
complement(720)-g, adbSNP:371496582
complement(722)-t, cdbSNP:143377552
complement(735)-g, adbSNP:374834686
complement(760)-g, adbSNP:371331129
complement(777)-dbSNP:
complement(777)-g, adbSNP:201280023
complement(809)-g, adbSNP:114046477
810+a, gdbSNP:121918414
complement(823)-g, adbSNP:372452903
complement(872)-dbSNP:
complement(872)-g, adbSNP:370809444
880+c, gdbSNP:202247813
complement(923)-t, cdbSNP:377524694
complement(944)-t, cdbSNP:146034962
977+a, cdbSNP:121918415
complement(983)-t, cdbSNP:374982085
985+dbSNP:
985+a, gdbSNP:2229962
complement(1009)-t, cdbSNP:375819582
complement(1010)-g, cdbSNP:76872663
complement(1019)-t, cdbSNP:112560122
1024+a, g, tdbSNP:281864916
1064+c, gdbSNP:121918417
complement(1071)-t, cdbSNP:369800907
1088+c, gdbSNP:281864917
complement(1095)-g, adbSNP:201471742
1102+a, tdbSNP:121918409
1119+a, cdbSNP:121918413
complement(1125)-g, adbSNP:139058916
1126+a, gdbSNP:281864918
1149+a, gdbSNP:121918416
1169+c, g, tdbSNP:121918411
1171+a, gdbSNP:267606848
complement(1175)-t, g, adbSNP:192326771
complement(1177)-c, adbSNP:373120024
1179+a, tdbSNP:281864920
1183+a, g, tdbSNP:121918408
complement(1187)-t, adbSNP:369314432
1197+a, gdbSNP:121918412
complement(1202)-dbSNP:
complement(1202)-t, cdbSNP:150716717
1207+a, c, gdbSNP:121918410
1208+, tdbSNP:281864921
1258+a, cdbSNP:121918418
complement(1277)-g, adbSNP:377190917
complement(1280)-g, adbSNP:17112272
complement(1308)-g, cdbSNP:200218897
complement(1309)-t, cdbSNP:77451630
complement(1315)-g, adbSNP:148221542
1317+c, tdbSNP: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(1361)-dbSNP:
complement(1361)-t, cdbSNP:377129430
complement(1369)-t, cdbSNP:147471585
complement(1380)-c, adbSNP:146911085
complement(1384)-t, gdbSNP:372342365
complement(1395)-t, cdbSNP:116474260
complement(1453)-t, gdbSNP:138173310
complement(1468)-g, adbSNP:62636581
complement(1472)-g, adbSNP:368049933
complement(1480)-g, cdbSNP:140420721
complement(1497)-t, adbSNP:151276682
complement(1500)-g, adbSNP:375152105
complement(1501)-t, cdbSNP:199561280
complement(1509)-t, adbSNP:367564392
complement(1511)-g, adbSNP:62636580
complement(1545)-g, adbSNP:182383995
1546+a, gdbSNP:281864919
complement(1583)-c, adbSNP:141039714
complement(1612)-t, cdbSNP:200130685
complement(1626)-t, gdbSNP:146481873
complement(1641)-t, cdbSNP:376388353
complement(1647..1648)-, tdbSNP:377345722
complement(1737)-g, adbSNP:184946186
complement(1740..1743)-, gtaadbSNP:144976473
Gene SymbolGLRA1
Gene SynonymHKPX1; STHE
Chromosome5
Locus Map5q32
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001292000 Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 3, mRNA. On-demand $549.00 14
NM_001146040 Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA. On-demand $699.00 18
NM_000171 Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 2, mRNA. In-stock $509.00 $460.00 12
XM_005268412 PREDICTED: Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant X2, mRNA. On-demand $449.00 14
Title New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms .
Author Bode A, Wood SE, Mullins JG, Keramidas A, Cushion TD, Thomas RH, Pickrell WO, Drew CJ, Masri A, Jones EA, Vassallo G, Born AP, Alehan F, Aharoni S, Bannasch G, Bartsch M, Kara B, Krause A, Karam EG, Matta S, Jain V, Mandel H, Freilinger M, Graham GE, Hobson E, Chatfield S, Vincent-Delorme C, Rahme JE, Afawi Z, Berkovic SF, Howell OW, Vanbellinghen JF, Rees MI, Chung SK and Lynch JW.
Journal J. Biol. Chem. 288 (47), 33745-33759 (2013)
Title Analysis of hyperekplexia mutations identifies transmembrane domain rearrangements that mediate glycine receptor activation .
Author Bode A and Lynch JW.
Journal J. Biol. Chem. 288 (47), 33760-33771 (2013)
Title Open-channel structures of the human glycine receptor alpha1 full-length transmembrane domain .
Author Mowrey DD, Cui T, Jia Y, Ma D, Makhov AM, Zhang P, Tang P and Xu Y.
Journal Structure 21 (10), 1897-1904 (2013)
Title Glycine receptor autoimmune spectrum with stiff-man syndrome phenotype .
Author McKeon A, Martinez-Hernandez E, Lancaster E, Matsumoto JY, Harvey RJ, McEvoy KM, Pittock SJ, Lennon VA 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 LG and Guzman L.
Journal J. Biol. Chem. 287 (48), 40713-40721 (2012)
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 Hyperekplexia .
Author Tijssen,M.A.J. and Rees,M.I.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis .
Author Ryan SG, Sherman SL, Terry JC, Sparkes RS, Torres MC and Mackey RW.
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 ML, 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 PR, Seeburg PH, Siddique T, Mohandas TK, Becker CM and Betz H.
Journal EMBO J. 9 (3), 771-776 (1990)

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