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Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu18369 Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA. pcDNA3.1+-DYK In-stock $99.00 5-7
OHu18369C Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA. Customized vector In-stock $149.00 5-7

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Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_000162.3, 167621407
Length 1398 bp
Structure linear
Update Date 03-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA.
Product glucokinase isoform 1
Comment

Summary: Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. Alternative splicing of this gene results in three tissue-specific forms of glucokinase, one found in pancreatic islet beta cells and two found in liver. The protein localizes to the outer membrane of mitochondria. In contrast to other forms of hexokinase, this enzyme is not inhibited by its product glucose-6-phosphate but remains active while glucose is abundant. Mutations in this gene have been associated with non-insulin dependent diabetes mellitus (NIDDM), maturity onset diabetes of the young, type 2 (MODY2) and persistent hyperinsulinemic hypoglycemia of infancy (PHHI). [provided by RefSeq, Apr 2009].


Transcript Variant: This variant (1) encodes the isoform expressed specifically in pancreatic islet beta cells. Its first exon is specific to this variant, which has a unique 5' UTR. Isoform 1 has a distinct N-terminus; the remainder of the protein is identical to isoforms 2 and 3.

RefSeq NP_000153.1
CDS 471..1868
Misc Feature(1)375..377
Misc Feature(2)492..1844
Misc Feature(3)492..1844
Misc Feature(4)693..1304
Misc Feature(5)order(702..713,717..719,723..725,1083..1085,1143..1154)
Misc Feature(6)921..926
Misc Feature(7)972..977
Misc Feature(8)1080..1085
Misc Feature(9)1125..1838
Exon (1)1..515
Gene:GCK
Gene Synonym:FGQTL3; GK; GLK; HHF3; HK4; HKIV; HXKP; LGLK; MODY2
Exon (2)516..678
Gene:GCK
Gene Synonym:FGQTL3; GK; GLK; HHF3; HK4; HKIV; HXKP; LGLK; MODY2
Exon (3)679..833
Gene:GCK
Gene Synonym:FGQTL3; GK; GLK; HHF3; HK4; HKIV; HXKP; LGLK; MODY2
Exon (4)834..953
Gene:GCK
Gene Synonym:FGQTL3; GK; GLK; HHF3; HK4; HKIV; HXKP; LGLK; MODY2
Exon (5)954..1049
Gene:GCK
Gene Synonym:FGQTL3; GK; GLK; HHF3; HK4; HKIV; HXKP; LGLK; MODY2
Exon (6)1050..1149
Gene:GCK
Gene Synonym:FGQTL3; GK; GLK; HHF3; HK4; HKIV; HXKP; LGLK; MODY2
Exon (7)1150..1333
Gene:GCK
Gene Synonym:FGQTL3; GK; GLK; HHF3; HK4; HKIV; HXKP; LGLK; MODY2
Exon (8)1334..1489
Gene:GCK
Gene Synonym:FGQTL3; GK; GLK; HHF3; HK4; HKIV; HXKP; LGLK; MODY2
Exon (9)1490..1723
Gene:GCK
Gene Synonym:FGQTL3; GK; GLK; HHF3; HK4; HKIV; HXKP; LGLK; MODY2
Exon (10)1724..2733
Gene:GCK
Gene Synonym:FGQTL3; GK; GLK; HHF3; HK4; HKIV; HXKP; LGLK; MODY2
Translation MLDDRARMEAAKKEKVEQILAEFQLQEEDLKKVMRRMQKEMDRGLRLETHEEASVKMLPT YVRSTPEGSEVGDFLSLDLGGTNFRVMLVKVGEGEEGQWSVKTKHQMYSIPEDAMTGTAE MLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDIDKGILLNWTKGFKASGAEGNN VVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDHQCEVGMIVGTGCNACYMEEMQN VELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRLVDESSANPGQQLYEKLIGGKYMGE LVRLVLLRLVDENLLFHGEASEQLRTRGAFETRFVSQVESDTGDRKQIYNILSTLGLRPS TTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSEDVMRITVGVDGSVYKLHPSFK ERFHASVRRLTPSCEITFIESEEGSGRGAALVSAVACKKACMLGQ
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Position Chain Variation Link
complement(16)-dbSNP:
complement(16)-t, cdbSNP:140894490
complement(18)-g, adbSNP:191795044
complement(19)-t, cdbSNP:187173652
complement(204)-c, adbSNP:59914952
complement(224)-t, cdbSNP:376294398
complement(254)-g, cdbSNP:73691419
complement(256)-g, adbSNP:13306390
complement(272)-g, adbSNP:183018696
complement(373)-g, adbSNP:200216829
387+c, gdbSNP:13306391
complement(427)-t, cdbSNP:369065537
complement(447)-g, cdbSNP:372823615
complement(454)-g, adbSNP:190731555
466+c, tdbSNP:193922251
complement(479)-g, adbSNP:142553382
complement(480)-t, cdbSNP:202091228
complement(501)-t, cdbSNP:116093166
complement(518)-dbSNP:
complement(518)-t, cdbSNP:201152574
complement(520)-t, cdbSNP:113565983
527+c, gdbSNP:193922308
544+g, tdbSNP:193922325
546+c, tdbSNP:193922329
573+a, tdbSNP:193922259
577+c, gdbSNP:193922261
587+a, gdbSNP:193922270
complement(600)-t, cdbSNP:267601516
601+a, gdbSNP:193922279
616+a, cdbSNP:193922286
645+c, tdbSNP:193922287
complement(668)-t, cdbSNP:377410513
complement(673)-t, cdbSNP:373418736
complement(683)-dbSNP:
complement(683)-g, adbSNP:143128547
684+a, gdbSNP:193922289
723+a, tdbSNP:193922290
complement(734)-t, cdbSNP:139817377
770+c, tdbSNP:13306389
774+a, tdbSNP:193922291
792+g, tdbSNP:193922292
complement(803)-g, adbSNP:61736250
complement(809)-g, adbSNP:149412035
complement(855)-dbSNP:
complement(855)-g, adbSNP:377106269
861+c, tdbSNP:104894010
863+, cdbSNP:193922295
complement(863)-g, adbSNP:139139350
complement(885)-t, adbSNP:368137186
complement(903)-g, adbSNP:150779253
910+a, gdbSNP:193922296
919+c, tdbSNP:193922297
920+c, tdbSNP:193922299
927+c, tdbSNP:193922300
933+a, gdbSNP:193922301
953+a, gdbSNP:193922302
979+dbSNP:
979+g, tdbSNP:193922303
complement(988)-, gdbSNP:34389297
complement(988)-g, adbSNP:370966942
997+c, gdbSNP:193922304
1002+a, gdbSNP:193922305
1012+c, tdbSNP:193922306
1026+c, tdbSNP:104894006
1033+c, tdbSNP:193922307
complement(1034)-g, adbSNP:377355289
complement(1044)-t, gdbSNP:373262279
complement(1047)-g, cdbSNP:376050856
1057+dbSNP:
1057+a, gdbSNP:193922309
complement(1064)-g, adbSNP:376713590
1074+a, gdbSNP:193922310
1075+c, tdbSNP:193922311
1085+c, gdbSNP:193922312
complement(1088)-t, cdbSNP:142817246
1099+a, tdbSNP:80356654
1100+g, tdbSNP:193922313
1105..1107+, cctdbSNP:193922314
complement(1105)-g, adbSNP:150077934
1111+a, gdbSNP:104894015
complement(1115)-g, c, adbSNP:144723656
complement(1119)-t, cdbSNP:147065275
1128+c, tdbSNP:193922315
1129+a, gdbSNP:193922316
complement(1130)-g, adbSNP:142952813
1131+a, gdbSNP:193922317
1136+c, tdbSNP:193922318
complement(1146)-t, cdbSNP:148311934
1147+c, tdbSNP:193922319
1153+dbSNP:
1153+c, tdbSNP:80356655
complement(1154)-t, cdbSNP:371616363
1164+a, gdbSNP:193922322
1174+c, tdbSNP:193922323
1193+a, gdbSNP:193922324
complement(1196)-t, cdbSNP:373582283
complement(1219)-t, cdbSNP:370375148
1222+c, tdbSNP:193922326
1228+c, g, tdbSNP:193921400
1230+a, cdbSNP:193922327
1238+c, gdbSNP:193922328
1249+c, tdbSNP:193922330
1251+a, gdbSNP:104894008
1257+c, tdbSNP:193922331
1260+a, gdbSNP:193929373
1263+g, tdbSNP:104894011
1282+c, tdbSNP:193922332
complement(1296)-g, cdbSNP:143387473
1303+a, tdbSNP:193922333
complement(1304)-g, adbSNP:200071687
1305+c, g, tdbSNP:104894005
complement(1306)-t, cdbSNP:143484733
complement(1319)-g, adbSNP:199851776
complement(1322)-g, adbSNP:145323719
1341+dbSNP:
1341+a, tdbSNP:193922335
1365+c, gdbSNP:104894009
1377+c, tdbSNP:193922336
1387+c, tdbSNP:193922337
1414+a, tdbSNP:193922338
1417+a, tdbSNP:193922339
complement(1418)-g, adbSNP:111715157
1422+g, tdbSNP:193922340
complement(1424)-g, cdbSNP:145764627
1441+c, tdbSNP:193922341
1472..1473+aa, cgdbSNP:193922252
1473..1474+, aadbSNP:193922253
1473+, gdbSNP:193922254
1485+a, gdbSNP:397514580
1488+a, gdbSNP:193922255
1512+dbSNP:
1512+a, tdbSNP:193922260
complement(1538)-c, adbSNP:369103069
1584+g, tdbSNP:193922262
1594+c, tdbSNP:193922263
1600+a, gdbSNP:193922264
1602+a, gdbSNP:104894016
1603+c, tdbSNP:193929374
1606+a, cdbSNP:193922265
1612+g, tdbSNP:193922266
1623+a, gdbSNP:193922267
1627+c, tdbSNP:193922268
1630+a, c, tdbSNP:193921338
1639+a, c, tdbSNP:193921340
1645+g, tdbSNP:193922269
complement(1659)-g, adbSNP:370464857
1660+g, tdbSNP:193929375
1677+c, gdbSNP:193922271
1710+a, gdbSNP:193922272
1738+dbSNP:
1738+a, tdbSNP:193922273
1749..1828+ttacadbSNP:193922274
1753..1754+, gcdbSNP:193922275
complement(1755)-t, gdbSNP:140672134
complement(1756)-t, cdbSNP:146683328
1758+c, tdbSNP:193922276
1759+c, tdbSNP:193922277
complement(1761)-t, cdbSNP:188718376
1777+a, tdbSNP:193922278
complement(1799)-t, cdbSNP:140886210
1802+, cdbSNP:193922280
1809+c, gdbSNP:193922281
1815+a, gdbSNP:193922282
1828+c, tdbSNP:193922283
complement(1833..1834)-, ccccdbSNP:377247972
1833+a, gdbSNP:104894012
1837+c, tdbSNP:104894014
1842..1843+, aadbSNP:193922284
1856+g, tdbSNP:193922285
complement(1874)-t, cdbSNP:369520128
complement(1879)-g, adbSNP:200698755
complement(1884)-g, cdbSNP:41282709
complement(1998..1999)-, gdbSNP:139354711
2200+a, gdbSNP:13306388
complement(2224)-t, cdbSNP:146107173
complement(2274)-g, adbSNP:114431571
complement(2311)-t, cdbSNP:201235980
complement(2345)-t, cdbSNP:2908275
2378+a, gdbSNP:141645300
complement(2601)-g, adbSNP:138562953
complement(2627)-t, cdbSNP:200628800
complement(2627)-, gdbSNP:55714218
complement(2632)-g, adbSNP:185418856
complement(2646..2647)-, ggdbSNP:34322372
complement(2665)-t, cdbSNP:2908276
complement(2715)-t, cdbSNP:76374134
complement(2726..2727)-, tadbSNP:35548117
Gene SymbolGCK
Gene SynonymFGQTL3; GK; GLK; HHF3; HK4; HKIV; HXKP; LGLK; MODY2
Chromosome7
Locus Map7p15.3-p15.1
Title Prevalence of vascular complications among patients with glucokinase mutations and prolonged, mild hyperglycemia .
Author Steele AM, Shields BM, Wensley KJ, Colclough K, Ellard S and Hattersley AT.
Journal JAMA 311 (3), 279-286 (2014)
Title Structural basis for regulation of human glucokinase by glucokinase regulatory protein .
Author Beck T and Miller BG.
Journal Biochemistry 52 (36), 6232-6239 (2013)
Title Maturity onset diabetes of the young: identification and diagnosis .
Author McDonald TJ and Ellard S.
Journal Ann. Clin. Biochem. 50 (PT 5), 403-415 (2013)
Title Large scale meta-analyses of fasting plasma glucose raising variants in GCK, GCKR, MTNR1B and G6PC2 and their impacts on type 2 diabetes mellitus risk .
Author Wang H, Liu L, Zhao J, Cui G, Chen C, Ding H and Wang DW.
Journal PLoS ONE 8 (6), E67665 (2013)
Title Permanent Neonatal Diabetes Mellitus .
Author De Leon,D.D. and Stanley,C.A.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Familial Hyperinsulinism .
Author Glaser,B.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Nonsense mutation of glucokinase gene in late-onset non-insulin-dependent diabetes mellitus .
Author Katagiri H, Asano T, Ishihara H, Inukai K, Anai M, Miyazaki J, Tsukuda K, Kikuchi M, Yazaki Y and Oka Y.
Journal Lancet 340 (8831), 1316-1317 (1992)
Title Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes .
Author Stoffel M, Patel P, Lo YM, Hattersley AT, Lucassen AM, Page R, Bell JI, Bell GI, Turner RC and Wainscoat JS.
Journal Nat. Genet. 2 (2), 153-156 (1992)
Title Human glucokinase gene: isolation, structural characterization, and identification of a microsatellite repeat polymorphism .
Author Tanizawa Y, Matsutani A, Chiu KC and Permutt MA.
Journal Mol. Endocrinol. 6 (7), 1070-1081 (1992)
Title Linkage of type 2 diabetes to the glucokinase gene .
Author Hattersley AT, Turner RC, Permutt MA, Patel P, Tanizawa Y, Chiu KC, O'Rahilly S, Watkins PJ and Wainscoat JS.
Journal Lancet 339 (8805), 1307-1310 (1992)

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