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


RefSeq Accession Definition Services Price Order
NM_000162 Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA. ORF Sequence $405.42
Peptide Services
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Protein Services


RefSeq Version NM_000162.3, 167621407
Length 2741 bp
Structure linear
Update Date 21-APR-2013
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(254)-g, cdbSNP:73691419
complement(256)-g, adbSNP:13306390
complement(272)-g, adbSNP:183018696
complement(373)-g, adbSNP:200216829
complement(387)-g, cdbSNP:13306391
complement(454)-g, adbSNP:190731555
complement(466)-t, cdbSNP: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
complement(527)-g, cdbSNP:193922308
complement(544)-t, gdbSNP:193922325
complement(546)-t, cdbSNP:193922329
complement(573)-t, adbSNP:193922259
complement(577)-g, cdbSNP:193922261
complement(587)-g, adbSNP:193922270
complement(601)-g, adbSNP:193922279
complement(616)-c, adbSNP:193922286
complement(645)-t, cdbSNP:193922287
complement(683)-dbSNP:
complement(683)-g, adbSNP:143128547
complement(684)-g, adbSNP:193922289
complement(723)-t, adbSNP:193922290
complement(734)-t, cdbSNP:139817377
complement(770)-t, cdbSNP:13306389
complement(774)-t, adbSNP:193922291
complement(792)-t, gdbSNP:193922292
complement(803)-g, adbSNP:61736250
complement(809)-g, adbSNP:149412035
complement(861)-dbSNP:
complement(861)-t, cdbSNP:104894010
complement(863)-g, adbSNP:139139350
complement(863)-, cdbSNP:193922295
complement(903)-g, adbSNP:150779253
complement(910)-g, adbSNP:193922296
complement(919)-t, cdbSNP:193922297
complement(920)-t, cdbSNP:193922299
complement(927)-t, cdbSNP:193922300
complement(933)-g, adbSNP:193922301
complement(953)-g, adbSNP:193922302
complement(979)-dbSNP:
complement(979)-t, gdbSNP:193922303
complement(989)-, gdbSNP:34389297
complement(997)-g, cdbSNP:193922304
complement(1002)-g, adbSNP:193922305
complement(1012)-t, cdbSNP:193922306
complement(1026)-t, cdbSNP:104894006
complement(1033)-t, cdbSNP:193922307
complement(1057)-dbSNP:
complement(1057)-g, adbSNP:193922309
complement(1074)-g, adbSNP:193922310
complement(1075)-t, cdbSNP:193922311
complement(1085)-g, cdbSNP:193922312
complement(1088)-t, cdbSNP:142817246
complement(1099)-t, adbSNP:80356654
complement(1100)-t, gdbSNP:193922313
complement(1105..1107)-, cctdbSNP:193922314
complement(1105)-g, adbSNP:150077934
complement(1111)-g, adbSNP:104894015
complement(1115)-g, c, adbSNP:144723656
complement(1119)-t, cdbSNP:147065275
complement(1128)-t, cdbSNP:193922315
complement(1129)-g, adbSNP:193922316
complement(1130)-g, adbSNP:142952813
complement(1131)-g, adbSNP:193922317
complement(1136)-t, cdbSNP:193922318
complement(1146)-t, cdbSNP:148311934
complement(1147)-t, cdbSNP:193922319
1153+dbSNP:
1153+c, tdbSNP:80356655
complement(1164)-g, adbSNP:193922322
complement(1174)-t, cdbSNP:193922323
complement(1193)-g, adbSNP:193922324
complement(1222)-t, cdbSNP:193922326
complement(1228)-t, g, cdbSNP:193921400
complement(1230)-c, adbSNP:193922327
complement(1238)-g, cdbSNP:193922328
complement(1249)-t, cdbSNP:193922330
complement(1251)-g, adbSNP:104894008
complement(1257)-t, cdbSNP:193922331
complement(1260)-g, adbSNP:193929373
complement(1263)-t, gdbSNP:104894011
complement(1282)-t, cdbSNP:193922332
complement(1296)-g, cdbSNP:143387473
complement(1303)-t, adbSNP:193922333
complement(1304)-g, adbSNP:200071687
complement(1305)-t, g, cdbSNP:104894005
complement(1306)-t, cdbSNP:143484733
complement(1319)-g, adbSNP:199851776
complement(1322)-g, adbSNP:145323719
complement(1341)-dbSNP:
complement(1341)-t, adbSNP:193922335
complement(1365)-g, cdbSNP:104894009
complement(1377)-t, cdbSNP:193922336
complement(1387)-t, cdbSNP:193922337
complement(1414)-t, adbSNP:193922338
complement(1417)-t, adbSNP:193922339
complement(1418)-g, adbSNP:111715157
complement(1422)-t, gdbSNP:193922340
complement(1424)-g, cdbSNP:145764627
complement(1441)-t, cdbSNP:193922341
complement(1472..1473)-cg, aadbSNP:193922252
complement(1473..1474)-, aadbSNP:193922253
complement(1473)-, gdbSNP:193922254
complement(1488)-g, adbSNP:193922255
complement(1512)-dbSNP:
complement(1512)-t, adbSNP:193922260
complement(1584)-t, gdbSNP:193922262
complement(1594)-t, cdbSNP:193922263
complement(1600)-g, adbSNP:193922264
complement(1602)-g, adbSNP:104894016
complement(1603)-t, cdbSNP:193929374
complement(1606)-c, adbSNP:193922265
complement(1612)-t, gdbSNP:193922266
complement(1623)-g, adbSNP:193922267
complement(1627)-t, cdbSNP:193922268
complement(1630)-t, c, adbSNP:193921338
complement(1639)-t, c, adbSNP:193921340
complement(1645)-t, gdbSNP:193922269
complement(1660)-t, gdbSNP:193929375
complement(1677)-g, cdbSNP:193922271
complement(1710)-g, adbSNP:193922272
complement(1738)-dbSNP:
complement(1738)-t, adbSNP:193922273
complement(1749..1828)-ttacadbSNP:193922274
complement(1753..1754)-, gcdbSNP:193922275
complement(1755)-t, gdbSNP:140672134
complement(1756)-t, cdbSNP:146683328
complement(1758)-t, cdbSNP:193922276
complement(1759)-t, cdbSNP:193922277
complement(1761)-t, cdbSNP:188718376
complement(1777)-t, adbSNP:193922278
complement(1799)-t, cdbSNP:140886210
complement(1802)-, cdbSNP:193922280
complement(1809)-g, cdbSNP:193922281
complement(1815)-g, adbSNP:193922282
complement(1828)-t, cdbSNP:193922283
complement(1833)-g, adbSNP:104894012
complement(1837)-t, cdbSNP:104894014
complement(1842..1843)-, aadbSNP:193922284
complement(1856)-t, gdbSNP:193922285
complement(1879)-g, adbSNP:200698755
complement(1884)-g, cdbSNP:41282709
complement(1998..1999)-, gdbSNP:139354711
complement(2200)-g, adbSNP:13306388
complement(2224)-t, cdbSNP:146107173
complement(2274)-g, adbSNP:114431571
complement(2311)-t, cdbSNP:201235980
complement(2345)-t, cdbSNP:2908275
complement(2378)-g, adbSNP:141645300
complement(2601)-g, adbSNP:138562953
complement(2627)-t, cdbSNP:200628800
complement(2627)-, gdbSNP:55714218
complement(2632)-g, adbSNP:185418856
complement(2649..2650)-, 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
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000162 Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA. Full Length $794.89
ORF Sequence $405.42
NM_033507 Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 2, mRNA. Full Length $708.18
ORF Sequence $406.29
NM_033508 Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 3, mRNA. Full Length $744.14
ORF Sequence $404.55
Title Metabolite profiling reveals normal metabolic control in carriers of mutations in the glucokinase gene (MODY2) .
Author Spegel,P., Ekholm,E., Tuomi,T., Groop,L., Mulder,H. and Filipsson,K.
Journal Diabetes 62 (2), 653-661 (2013)
Title MODY 2: mutation identification and molecular ancestry in a Brazilian family .
Author Mota,A.J., Bruggemann,S. and Costa,F.F.
Journal Gene 512 (2), 486-491 (2013)
Title GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation .
Author Negahdar,M., Aukrust,I., Johansson,B.B., Molnes,J., Molven,A., Matschinsky,F.M., Sovik,O., Kulkarni,R.N., Flatmark,T., Njolstad,P.R. and Bjorkhaug,L.
Journal Biochim. Biophys. Acta 1822 (11), 1705-1715 (2012)
Title MODY2 caused by a novel mutation of GCK gene .
Author Pulst,K., Arbo,T., Kahre,T., Peet,A. and Tillmann,V.
Journal J. Pediatr. Endocrinol. Metab. 25 (7-8), 801-803 (2012)
Title Expression of the human glucokinase gene: important roles of the 5' flanking and intron 1 sequences .
Author Wang,Y., Guo,T., Zhao,S., Li,Z., Mao,Y., Li,H., Wang,X., Wang,R., Xu,W., Song,R., Jin,L., Li,X., Irwin,D.M., Niu,G. and Tan,H.
Journal PLoS ONE 7 (9), E45824 (2012)
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 Glucokinase and NIDDM. A candidate gene that paid off .
Author Permutt,M.A., Chiu,K.C. and Tanizawa,Y.
Journal Diabetes 41 (11), 1367-1372 (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,Y.M., Hattersley,A.T., Lucassen,A.M., Page,R., Bell,J.I., Bell,G.I., Turner,R.C. and Wainscoat,J.S.
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,K.C. and Permutt,M.A.
Journal Mol. Endocrinol. 6 (7), 1070-1081 (1992)
Title Linkage of type 2 diabetes to the glucokinase gene .
Author Hattersley,A.T., Turner,R.C., Permutt,M.A., Patel,P., Tanizawa,Y., Chiu,K.C., O'Rahilly,S., Watkins,P.J. and Wainscoat,J.S.
Journal Lancet 339 (8805), 1307-1310 (1992)

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