Sequence of HXK4_HUMAN
EC Number:2.7.1.1
EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
Reaction
ATP + D-glucose = ADP + D-glucose 6-phosphate
Other sequences found for EC No. 2.7.1.1
EC Number:2.7.1.2
EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
Reaction
ATP + D-glucose = ADP + D-glucose 6-phosphate
Other sequences found for EC No. 2.7.1.2
General information:
Sequence
0 MLDDRARMEA AKKEKVEQIL AEFQLQEEDL KKVMRRMQKE MDRGLRLETH EEASVKMLPT
60 YVRSTPEGSE VGDFLSLDLG GTNFRVMLVK VGEGEEGQWS VKTKHQMYSI PEDAMTGTAE
120 MLFDYISECI SDFLDKHQMK HKKLPLGFTF SFPVRHEDID KGILLNWTKG FKASGAEGNN
180 VVGLLRDAIK RRGDFEMDVV AMVNDTVATM ISCYYEDHQC EVGMIVGTGC NACYMEEMQN
240 VELVEGDEGR MCVNTEWGAF GDSGELDEFL LEYDRLVDES SANPGQQLYE KLIGGKYMGE
300 LVRLVLLRLV DENLLFHGEA SEQLRTRGAF ETRFVSQVES DTGDRKQIYN ILSTLGLRPS
360 TTDCDIVRRA CESVSTRAAH MCSAGLAGVI NRMRESRSED VMRITVGVDG SVYKLHPSFK
420 ERFHASVRRL TPSCEITFIE SEEGSGRGAA LVSAVACKKA CMLGQ
Download this sequence
in fasta formatDownload all sequences for 2.7.1.2
in fasta format
in csv (Excel, OpenOffice) formatSequence related references
Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
811274
Tanizawa Y.,Matsutani A.,Chiu K.C.,Permutt M.A.
Human glucokinase gene: isolation, structural characterization, and identification of a microsatellite repeat polymorphism.
Mol. Endocrinol.
6
1070-1081
1992
811275
Tanizawa Y.,Koranyi L.I.,Welling C.M.,Permutt M.A.
Human liver glucokinase gene: cloning and sequence determination of two alternatively spliced cDNAs.
Proc. Natl. Acad. Sci. U.S.A.
88
7294-7297
1991
811276
Nishi S.,Stoffel M.,Xiang K.S.,Shows T.B.,Bell G.I.,Takeda J.
Human pancreatic beta-cell glucokinase: cDNA sequence and localization of the polymorphic gene to chromosome 7, band p13.
Diabetologia
35
743-747
1992
811277
Koranyi L.I.,Tanizawa Y.,Welling C.M.,Rabin D.U.,Permutt M.A.
Human islet glucokinase gene. Isolation and sequence analysis of full-length cDNA.
Diabetes
41
807-811
1992
811278
Stoffel M.,Froguel P.,Takeda J.,Zouali H.,Vionnet N.,Nishi S.,Weber I.T.,Harrison R.W.,Pilkis S.J.,Lesage S.,Vaxillaire M.,Velho G.,Sun F.,Iris F.,Passa P.,Cohen D.,Bell G.I.
Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus.
Proc. Natl. Acad. Sci. U.S.A.
89
7698-7702
1992
811280
Sakura H.,Eto K.,Kadowaki H.,Simokawa K.,Ueno H.,Koda N.,Fukushima Y.,Akanuma Y.,Yazaki Y.,Kadowaki T.
Structure of the human glucokinase gene and identification of a missense mutation in a Japanese patient with early-onset non-insulin-dependent diabetes mellitus.
J. Clin. Endocrinol. Metab.
75
1571-1573
1992
811281
Ota T.,Suzuki Y.,Nishikawa T.,Otsuki T.,Sugiyama T.,Irie R.,Wakamatsu A.,Hayashi K.,Sato H.,Nagai K.,Kimura K.,Makita H.,Sekine M.,Obayashi M.,Nishi T.,Shibahara T.,Tanaka T.,Ishii S.,Yamamoto J.,Saito K.,Kawai Y.,Isono Y.,Nakamura Y.,Nagahari K.,Murakami K.,Yasuda T.,Iwayanagi T.,Wagatsuma M.,Shiratori A.,Sudo H.,Hosoiri T.,Kaku Y.,Kodaira H.,Kondo H.,Sugawara M.,Takahashi M.,Kanda K.,Yokoi T.,Furuya T.,Kikkawa E.,Omura Y.,Abe K.,Kamihara K.,Katsuta N.,Sato K.,Tanikawa M.,Yamazaki M.,Ninomiya K.,Ishibashi T.,Yamashita H.,Murakawa K.,Fujimori K.,Tanai H.,Kimata M.,Watanabe M.,Hiraoka S.,Chiba Y.,Ishida S.,Ono Y.,Takiguchi S.,Watanabe S.,Yosida M.,Hotuta T.,Kusano J.,Kanehori K.,Takahashi-Fujii A.,Hara H.,Tanase T.-O.,Nomura Y.,Togiya S.,Komai F.,Hara R.,Takeuchi K.,Arita M.,Imose N.,Musashino K.,Yuuki H.,Oshima A.,Sasaki N.,Aotsuka S.,Yoshikawa Y.,Matsunawa H.,Ichihara T.,Shiohata N.,Sano S.,Moriya S.,Momiyama H.,Satoh N.,Takami S.,Terashima Y.,Suzuki O.,Nakagawa S.,Senoh A.,Mizoguchi H.,Goto Y.,Shimizu F.,Wakebe H.,Hishigaki H.,Watanabe T.,Sugiyama A.,Takemoto M.,Kawakami B.,Yamazaki M.,Watanabe K.,Kumagai A.,Itakura S.,Fukuzumi Y.,Fujimori Y.,Komiyama M.,Tashiro H.,Tanigami A.,Fujiwara T.,Ono T.,Yamada K.,Fujii Y.,Ozaki K.,Hirao M.,Ohmori Y.,Kawabata A.,Hikiji T.,Kobatake N.,Inagaki H.,Ikema Y.,Okamoto S.,Okitani R.,Kawakami T.,Noguchi S.,Itoh T.,Shigeta K.,Senba T.,Matsumura K.,Nakajima Y.,Mizuno T.,Morinaga M.,Sasaki M.,Togashi T.,Oyama M.,Hata H.,Watanabe M.,Komatsu T.,Mizushima-Sugano J.,Satoh T.,Shirai Y.,Takahashi Y.,Nakagawa K.,Okumura K.,Nagase T.,Nomura N.,Kikuchi H.,Masuho Y.,Yamashita R.,Nakai K.,Yada T.,Nakamura Y.,Ohara O.,Isogai T.,Sugano S.
Complete sequencing and characterization of 21,243 full-length human cDNAs.
Nat. Genet.
36
40-45
2004
811282
Scherer S.W.,Cheung J.,MacDonald J.R.,Osborne L.R.,Nakabayashi K.,Herbrick J.-A.,Carson A.R.,Parker-Katiraee L.,Skaug J.,Khaja R.,Zhang J.,Hudek A.K.,Li M.,Haddad M.,Duggan G.E.,Fernandez B.A.,Kanematsu E.,Gentles S.,Christopoulos C.C.,Choufani S.,Kwasnicka D.,Zheng X.H.,Lai Z.,Nusskern D.R.,Zhang Q.,Gu Z.,Lu F.,Zeesman S.,Nowaczyk M.J.,Teshima I.,Chitayat D.,Shuman C.,Weksberg R.,Zackai E.H.,Grebe T.A.,Cox S.R.,Kirkpatrick S.J.,Rahman N.,Friedman J.M.,Heng H.H.Q.,Pelicci P.G.,Lo-Coco F.,Belloni E.,Shaffer L.G.,Pober B.,Morton C.C.,Gusella J.F.,Bruns G.A.P.,Korf B.R.,Quade B.J.,Ligon A.H.,Ferguson H.,Higgins A.W.,Leach N.T.,Herrick S.R.,Lemyre E.,Farra C.G.,Kim H.-G.,Summers A.M.,Gripp K.W.,Roberts W.,Szatmari P.,Winsor E.J.T.,Grzeschik K.-H.,Teebi A.,Minassian B.A.,Kere J.,Armengol L.,Pujana M.A.,Estivill X.,Wilson M.D.,Koop B.F.,Tosi S.,Moore G.E.,Boright A.P.,Zlotorynski E.,Kerem B.,Kroisel P.M.,Petek E.,Oscier D.G.,Mould S.J.,Doehner H.,Doehner K.,Rommens J.M.,Vincent J.B.,Venter J.C.,Li P.W.,Mural R.J.,Adams M.D.,Tsui L.-C.
Human chromosome 7: DNA sequence and biology.
Science
300
767-772
2003
811284
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Genome Res.
14
2121-2127
2004
811285
Xu L.Z.,Weber I.T.,Harrison R.W.,Gidh-Jain M.,Pilkis S.J.
Sugar specificity of human beta-cell glucokinase: correlation of molecular models with kinetic measurements.
Biochemistry
34
6083-6092
1995
811286
Velho G.,Petersen K.F.,Perseghin G.,Hwang J.H.,Rothman D.L.,Pueyo M.E.,Cline G.W.,Froguel P.,Shulman G.I.
Impaired hepatic glycogen synthesis in glucokinase-deficient (MODY-2) subjects.
J. Clin. Invest.
98
1755-1761
1996
811287
de la Iglesia N.,Veiga-da-Cunha M.,Van Schaftingen E.,Guinovart J.J.,Ferrer J.C.
Glucokinase regulatory protein is essential for the proper subcellular localisation of liver glucokinase.
FEBS Lett.
456
332-338
1999
811288
Pal P.,Miller B.G.
Activating mutations in the human glucokinase gene revealed by genetic selection.
Biochemistry
48
814-816
2009
811289
Hofmeister-Brix A.,Kollmann K.,Langer S.,Schultz J.,Lenzen S.,Baltrusch S.
Identification of the ubiquitin-like domain of midnolin as a new glucokinase interaction partner.
J. Biol. Chem.
288
35824-35839
2013
811290
St Charles R.,Harrison R.W.,Bell G.I.,Pilkis S.J.,Weber I.T.
Molecular model of human beta-cell glucokinase built by analogy to the crystal structure of yeast hexokinase B.
Diabetes
43
784-791
1994
811291
Kamata K.,Mitsuya M.,Nishimura T.,Eiki J.,Nagata Y.
Structural basis for allosteric regulation of the monomeric allosteric enzyme human glucokinase.
Structure
12
429-438
2004
811292
Mitsuya M.,Kamata K.,Bamba M.,Watanabe H.,Sasaki Y.,Sasaki K.,Ohyama S.,Hosaka H.,Nagata Y.,Eiki J.,Nishimura T.
Discovery of novel 3,6-disubstituted 2-pyridinecarboxamide derivatives as GK activators.
Bioorg. Med. Chem. Lett.
19
2718-2721
2009
811293
Petit P.,Antoine M.,Ferry G.,Boutin J.A.,Lagarde A.,Gluais L.,Vincentelli R.,Vuillard L.
The active conformation of human glucokinase is not altered by allosteric activators.
Acta Crystallogr. D
67
929-935
2011
811294
Beck T.,Miller B.G.
Structural basis for regulation of human glucokinase by glucokinase regulatory protein.
Biochemistry
52
6232-6239
2013
811295
Katagiri H.,Asano T.,Ishihara H.,Inukai K.,Anai M.,Miyazaki J.,Tsukuda K.,Kikuchi M.,Yazaki Y.,Oka Y.
Nonsense mutation of glucokinase gene in late-onset non-insulin-dependent diabetes mellitus.
Lancet
340
1316-1317
1992
811296
Stoffel M.,Patel P.,Lo Y.-M.D.,Hattersley A.T.,Lucassen A.M.,Page R.,Bell J.I.,Bell G.I.,Turner R.C.,Wainscoat J.S.
Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes.
Nat. Genet.
2
153-156
1992
811297
Chiu K.C.,Tanizawa Y.,Permutt M.A.
Glucokinase gene variants in the common form of NIDDM.
Diabetes
42
579-582
1993
811298
Stoffel M.,Bell K.L.,Blackburn C.L.,Powell K.L.,Seo T.S.,Takeda J.,Vionnet N.,Xiang K.-S.,Gidh-Jain M.,Pilkis S.J.,Ober C.,Bell G.I.
Identification of glucokinase mutations in subjects with gestational diabetes mellitus.
Diabetes
42
937-940
1993
811299
Takeda J.,Gidh-Jain M.,Xu L.Z.,Froguel P.,Velho G.,Vaxillaire M.,Cohen D.,Shimada F.,Makino H.,Nishi S.,Stoffel M.,Vionnet N.,St Charles R.,Harrison R.W.,Weber I.T.,Bell G.I.,Pilkis S.J.
Structure/function studies of human beta-cell glucokinase. Enzymatic properties of a sequence polymorphism, mutations associated with diabetes, and other site-directed mutants.
J. Biol. Chem.
268
15200-15204
1993
811300
Gidh-Jain M.,Takeda J.,Xu L.Z.,Lange A.J.,Vionnet N.,Stoffel M.,Froguel P.,Velho G.,Sun D.,Cohen D.,Patel P.,Lo Y.-M.D.,Hattersley A.T.,Luthman H.,Wedell A.,St Charles R.,Harrison R.W.,Weber I.T.,Bell G.I.,Pilkis S.J.
Glucokinase mutations associated with non-insulin-dependent (type 2) diabetes mellitus have decreased enzymatic activity: implications for structure/function relationships.
Proc. Natl. Acad. Sci. U.S.A.
90
1932-1936
1993
811301
Hager J.,Blanche H.,Sun F.,Vionnet N.,Vaxillaire M.,Poller W.,Cohen D.,Czernichow P.,Velho G.,Robert J.-J.,Cohen N.,Froguel P.
Six mutations in the glucokinase gene identified in MODY by using a nonradioactive sensitive screening technique.
Diabetes
43
730-733
1994
811302
Velho G.,Blanche H.,Vaxillaire M.,Bellanne-Chantelot C.,Pardini V.C.,Timsit J.,Passa P.,Deschamps I.,Robert J.-J.,Weber I.T.,Marotta D.,Pilkis S.J.,Lipkind G.M.,Bell G.I.,Froguel P.
Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families.
Diabetologia
40
217-224
1997
811303
Guazzini B.,Gaffi D.,Mainieri D.,Multari G.,Cordera R.,Bertolini S.,Pozza G.,Meschi F.,Barbetti F.
Three novel missense mutations in the glucokinase gene (G80S; E221K; G227C) in Italian subjects with maturity-onset diabetes of the young (MODY).
Hum. Mutat.
12
136-136
1998
811304
Hattersley A.T.,Beards F.,Ballantyne E.,Appleton M.,Harvey R.,Ellard S.
Mutations in the glucokinase gene of the fetus result in reduced birth weight.
Nat. Genet.
19
268-270
1998
811305
Glaser B.,Kesavan P.,Heyman M.,Davis E.,Cuesta A.,Buchs A.,Stanley C.A.,Thornton P.S.,Permutt M.A.,Matschinsky F.M.,Herold K.C.
Familial hyperinsulinism caused by an activating glucokinase mutation.
N. Engl. J. Med.
338
226-230
1998
811306
Ng M.C.Y.,Cockburn B.N.,Lindner T.H.,Yeung V.T.F.,Chow C.-C.,So W.-Y.,Li J.K.Y.,Lo Y.M.D.,Lee Z.S.K.,Cockram C.S.,Critchley J.A.J.H.,Bell G.I.,Chan J.C.N.
Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte nuclear factor-1alpha genes in patients with early-onset type 2 diabetes mellitus/MODY.
Diabet. Med.
16
956-963
1999
811307
Nam J.H.,Lee H.C.,Kim Y.H.,Cha B.S.,Song Y.D.,Lim S.K.,Kim K.R.,Huh K.B.
Identification of glucokinase mutation in subjects with post-renal transplantation diabetes mellitus.
Diabetes Res. Clin. Pract.
50
169-176
2000
811308
Njoelstad P.R.,Soevik O.,Cuesta-Munoz A.,Bjoerkhaug L.,Massa O.,Barbetti F.,Undlien D.E.,Shiota C.,Magnuson M.A.,Molven A.,Matschinsky F.M.,Bell G.I.
Neonatal diabetes mellitus due to complete glucokinase deficiency.
N. Engl. J. Med.
344
1588-1592
2001
811309
Christesen H.B.,Jacobsen B.B.,Odili S.,Buettger C.,Cuesta-Munoz A.,Hansen T.,Brusgaard K.,Massa O.,Magnuson M.A.,Shiota C.,Matschinsky F.M.,Barbetti F.
The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy.
Diabetes
51
1240-1246
2002
811310
Gloyn A.L.,Noordam K.,Willemsen M.A.,Ellard S.,Lam W.W.,Campbell I.W.,Midgley P.,Shiota C.,Buettger C.,Magnuson M.A.,Matschinsky F.M.,Hattersley A.T.
Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations.
Diabetes
52
2433-2440
2003
811311
Cuesta-Munoz A.L.,Huopio H.,Otonkoski T.,Gomez-Zumaquero J.M.,Naentoe-Salonen K.,Rahier J.,Lopez-Enriquez S.,Garcia-Gimeno M.A.,Sanz P.,Soriguer F.C.,Laakso M.
Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation.
Diabetes
53
2164-2168
2004
811312
Vits L.,Beckers D.,Craen M.,de Beaufort C.,Vanfleteren E.,Dahan K.,Nollet A.,Vanhaverbeke G.,Imschoot S.V.,Bourguignon J.P.,Beauloye V.,Storm K.,Massa G.,Giri M.,Nobels F.,De Schepper J.,Rooman R.,Van den Bruel A.,Mathieu C.,Wuyts W.
Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients.
Clin. Genet.
70
355-359
2006
811313
Heredia V.V.,Carlson T.J.,Garcia E.,Sun S.
Biochemical basis of glucokinase activation and the regulation by glucokinase regulatory protein in naturally occurring mutations.
J. Biol. Chem.
281
40201-40207
2006
811314
Estalella I.,Rica I.,Perez de Nanclares G.,Bilbao J.R.,Vazquez J.A.,San Pedro J.I.,Busturia M.A.,Castano L.
Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.
Clin. Endocrinol. (Oxf.)
67
538-546
2007
811315
Estalella I.,Garcia-Gimeno M.A.,Marina A.,Castano L.,Sanz P.
Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young (MODY2) patients.
J. Hum. Genet.
53
460-466
2008
811316
Barbetti F.,Cobo-Vuilleumier N.,Dionisi-Vici C.,Toni S.,Ciampalini P.,Massa O.,Rodriguez-Bada P.,Colombo C.,Lenzi L.,Garcia-Gimeno M.A.,Bermudez-Silva F.J.,Rodriguez de Fonseca F.,Banin P.,Aledo J.C.,Baixeras E.,Sanz P.,Cuesta-Munoz A.L.
Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene.
Mol. Endocrinol.
23
1983-1989
2009
811317
Kassem S.,Bhandari S.,Rodriguez-Bada P.,Motaghedi R.,Heyman M.,Garcia-Gimeno M.A.,Cobo-Vuilleumier N.,Sanz P.,Maclaren N.K.,Rahier J.,Glaser B.,Cuesta-Munoz A.L.
Large islets, beta-cell proliferation, and a glucokinase mutation.
N. Engl. J. Med.
362
1348-1350
2010
811319
Steele A.M.,Tribble N.D.,Caswell R.,Wensley K.J.,Hattersley A.T.,Gloyn A.L.,Ellard S.
The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY.
Diabetologia
54
2202-2205
2011
811320
Beer N.L.,Osbak K.K.,van de Bunt M.,Tribble N.D.,Steele A.M.,Wensley K.J.,Edghill E.L.,Colcough K.,Barrett A.,Valentinova L.,Rundle J.K.,Raimondo A.,Grimsby J.,Ellard S.,Gloyn A.L.
Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis.
Diabetes Care
35
1482-1484
2012
811321
Raimondo A.,Chakera A.J.,Thomsen S.K.,Colclough K.,Barrett A.,De Franco E.,Chatelas A.,Demirbilek H.,Akcay T.,Alawneh H.,Flanagan S.E.,Van De Bunt M.,Hattersley A.T.,Gloyn A.L.,Ellard S.
Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.
Hum. Mol. Genet.
23
6432-6440
2014
811322
Martinez R.,Gutierrez-Nogues A.,Fernandez-Ramos C.,Velayos T.,Vela A.,Navas M.A.,Castano L.
Heterogeneity in phenotype of hyperinsulinism caused by activating glucokinase mutations: a novel mutation and its functional characterization.
Clin. Endocrinol. (Oxf.)
86
778-783
2017
