Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA.
| RefSeq Version | NM_000162.3, 167621407 |
| Length | 2741 bp |
| Structure | linear |
| Update Date | 10-APR-2011 |
| 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]. 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 | Exon (1) | 1..515 | Exon (2) | 1..515 | Exon (3) | 516..678 | Exon (4) | 679..833 | Exon (5) | 834..953 | Exon (6) | 954..1049 | Exon (7) | 1050..1149 | Exon (8) | 1150..1333 | Exon (9) | 1334..1489 | Exon (10) | 1490..1723 | Exon (11) | 1724..2733 |
| Translation | MLDDRARMEAAKKEKVEQILAEFQLQEEDLKKVMRRMQKEMDRGLRLETHEEASVKMLPT
YVRSTPEGSEVGDFLSLDLGGTNFRVMLVKVGEGEEGQWSVKTKHQMYSIPEDAMTGTAE
MLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDIDKGILLNWTKGFKASGAEGNN
VVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDHQCEVGMIVGTGCNACYMEEMQN
VELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRLVDESSANPGQQLYEKLIGGKYMGE
LVRLVLLRLVDENLLFHGEASEQLRTRGAFETRFVSQVESDTGDRKQIYNILSTLGLRPS
TTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSEDVMRITVGVDGSVYKLHPSFK
ERFHASVRRLTPSCEITFIESEEGSGRGAALVSAVACKKACMLGQ
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| Position | Chain | Variation | Link |
| complement(204) | - | c, a | dbSNP:59914952 |
| complement(254) | - | g, c | dbSNP:73691419 |
| 256 | + | a, g | dbSNP:13306390 |
| 387 | + | c, g | dbSNP:13306391 |
| complement(501) | - | t, c | dbSNP:116093166 |
| complement(520) | - | t, c | dbSNP:113565983 |
| 770 | + | c, t | dbSNP:13306389 |
| complement(803) | - | g, a | dbSNP:61736250 |
| 861 | + | c, t | dbSNP:104894010 |
| complement(988) | - | , g | dbSNP:34389297 |
| 1026 | + | c, t | dbSNP:104894006 |
| 1099 | + | a, t | dbSNP:80356654 |
| 1111 | + | a, g | dbSNP:104894015 |
| 1153 | + | c, t | dbSNP:80356655 |
| 1251 | + | a, g | dbSNP:104894008 |
| 1260 | + | a, g | dbSNP:80356656 |
| 1263 | + | g, t | dbSNP:104894011 |
| 1305 | + | g, t | dbSNP:104894005 |
| 1365 | + | c, g | dbSNP:104894009 |
| complement(1418) | - | g, a | dbSNP:111715157 |
| 1602 | + | a, g | dbSNP:104894016 |
| 1603 | + | c, t | dbSNP:80356657 |
| 1660 | + | g, t | dbSNP:80356658 |
| 1833 | + | a, g | dbSNP:104894012 |
| 1837 | + | c, t | dbSNP:104894014 |
| complement(1884) | - | g, c | dbSNP:41282709 |
| 2200 | + | a, g | dbSNP:13306388 |
| complement(2274) | - | g, a | dbSNP:114431571 |
| 2345 | + | c, t | dbSNP:2908275 |
| complement(2627) | - | , g | dbSNP:55714218 |
| complement(2646..2647) | - | , gg | dbSNP:34322372 |
| 2665 | + | c, t | dbSNP:2908276 |
| complement(2715) | - | t, c | dbSNP:76374134 |
| complement(2726..2727) | - | , ta | dbSNP:35548117 |
| Gene Symbol | GCK |
| Gene Synonym | FGQTL3; GK; GLK; HHF3; HK4; HKIV; HXKP; LGLK; MODY2 |
| Chromosome | 7 |
| Locus Map | 7p15.3-p15.1 |
| All Transcripts | NM_000162 , NM_033507 , NM_033508 |
| Title | Insight into the biochemical characteristics of a novel glucokinase gene mutation . |
| Author | Shen,Y., Cai,M., Liang,H., Wang,H. and Weng,J. |
| Journal | Hum. Genet. 129 (3), 231-238 (2011) |
| Title | Association of a fasting glucose genetic risk score with subclinical atherosclerosis: The Atherosclerosis Risk in Communities (ARIC) study . |
| Author | Rasmussen-Torvik,L.J., Li,M., Kao,W.H., Couper,D., Boerwinkle,E., Bielinski,S.J., Folsom,A.R. and Pankow,J.S. |
| Journal | Diabetes 60 (1), 331-335 (2011) |
| Title | Genetic risk reclassification for type 2 diabetes by age below or above 50 years using 40 type 2 diabetes risk single nucleotide polymorphisms . |
| Author | de Miguel-Yanes,J.M., Shrader,P., Pencina,M.J., Fox,C.S., Manning,A.K., Grant,R.W., Dupuis,J., Florez,J.C., D'Agostino,R.B. Sr., Cupples,L.A. and Meigs,J.B. |
| Journal | Diabetes Care 34 (1), 121-125 (2011) |
| Title | Mutations in pancreatic ss-cell Glucokinase as a cause of hyperinsulinaemic hypoglycaemia and neonatal diabetes mellitus . |
| Author | Hussain,K. |
| Journal | Rev Endocr Metab Disord 11 (3), 179-183 (2010) |
| Title | [The functional analysis of glucokinase gene E339K mutation] . |
| Author | Shen,Y.F., Liang,H., Cai,M.Y. and Weng,J.P. |
| Journal | Zhonghua Nei Ke Za Zhi 49 (7), 582-586 (2010) |
| 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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