LOCUS AH005826 8607 bp DNA linear HUM 10-JUN-2016 DEFINITION Homo sapiens glucokinase (GCK) gene, complete cds, alternatively spliced. ACCESSION AH005826 AF041012 AF041013 AF041014 AF041015 AF041016 AF041017 AF041018 AF041019 AF041020 AF041021 AF041022 M93280 VERSION AH005826.2 KEYWORDS . SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 8607) AUTHORS 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. and Bell,G.I. TITLE Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus JOURNAL Proc. Natl. Acad. Sci. U.S.A. 89 (16), 7698-7702 (1992) PUBMED 1502186 REFERENCE 2 (bases 1 to 8607) AUTHORS Bell,G.I. TITLE Direct Submission JOURNAL Submitted (25-APR-1993) Howard Hughes Medical Institute, Depts of Biochemistry and Molecular Biology and of Medicine, The University of Chicago, 5841 South Maryland Avenue MC1028, Chicago, IL 60637, USA COMMENT On or before Jun 10, 2016 this sequence version replaced AF041012.1, AF041013.1, AF041014.1, AF041015.1, AF041016.1, AF041017.1, AF041018.1, AF041019.1, AF041020.1, AF041021.1, AF041022.1, AH005826.1. FEATURES Location/Qualifiers source 1..8607 /organism="Homo sapiens" /mol_type="genomic DNA" /db_xref="taxon:9606" /tissue_type="placenta" /clone_lib="Stratagene cat. no. 946203" gene 816..8607 /gene="GCK" mRNA join(816..1187,3437..3599,4047..4201,4592..4711, 5190..5285,5395..5494,5828..6011,6448..6603,6961..7194, 7605..8607) /gene="GCK" /product="glucokinase" /note="alternatively spliced; pancreatic beta cell specific form" exon 816..1187 /gene="GCK" /note="1a; alternative exon; pancreatic beta cell specific" CDS join(1143..1187,3437..3599,4047..4201,4592..4711, 5190..5285,5395..5494,5828..6011,6448..6603,6961..7194, 7605..7749) /gene="GCK" /note="alternatively spliced; pancreatic beta cell specific form" /codon_start=1 /product="glucokinase" /protein_id="AAB97680.1" /translation="MLDDRARMEAAKKEKVEQILAEFQLQEEDLKKVMRRMQKEMDRG LRLETHEEASVKMLPTYVRSTPEGSEVGDFLSLDLGGTNFRVMLVKVGEGEEGQWSVK TKHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDID KGILLNWTKGFKASGAEGNNVVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDH QCEVGMIVGTGCNACYMEEMQNVELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRL VDESSANPGQQLYEKLIGGKYMGELVRLVLLRLVDENLLFHGEASEQLRTRGAFETRF VSQVESDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINR MRESRSEDVMRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAA LVSAVACKKACMLGQ" gap 1404..1503 /estimated_length=unknown mRNA join(1893..2068,3437..3599,4047..4201,4592..4711, 5190..5285,5395..5494,5828..6011,6448..6603,6961..7194, 7605..8607) /gene="GCK" /product="glucokinase" /note="alternatively spliced; major liver specific form" exon 1893..2068 /gene="GCK" /note="1b; alternative exon; liver specific" CDS join(2021..2068,3437..3599,4047..4201,4592..4711, 5190..5285,5395..5494,5828..6011,6448..6603,6961..7194, 7605..7749) /gene="GCK" /note="alternatively spliced; major liver specific form" /codon_start=1 /product="glucokinase" /protein_id="AAB97681.1" /translation="MAMDVTRSQAQTALTLVEQILAEFQLQEEDLKKVMRRMQKEMDR GLRLETHEEASVKMLPTYVRSTPEGSEVGDFLSLDLGGTNFRVMLVKVGEGEEGQWSV KTKHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDI DKGILLNWTKGFKASGAEGNNVVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYED HQCEVGMIVGTGCNACYMEEMQNVELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDR LVDESSANPGQQLYEKLIGGKYMGELVRLVLLRLVDENLLFHGEASEQLRTRGAFETR FVSQVESDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVIN RMRESRSEDVMRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGA ALVSAVACKKACMLGQ" gap 2243..2342 /estimated_length=unknown mRNA join(2683..2806,3437..3599,4047..4201,4592..4711, 5190..5285,5395..5494,5828..6011,6448..6603,6961..7194, 7605..8607) /gene="GCK" /product="glucokinase" /note="alternatively spliced; minor liver specific form" exon 2683..2806 /gene="GCK" /note="1c; alternative exon; liver specific" CDS join(2765..2806,3437..3599,4047..4201,4592..4711, 5190..5285,5395..5494,5828..6011,6448..6603,6961..7194, 7605..7749) /gene="GCK" /note="alternatively spliced; minor liver specific form" /codon_start=1 /product="glucokinase" /protein_id="AAB97682.1" /translation="MPRPRSQLPQPNSQVEQILAEFQLQEEDLKKVMRRMQKEMDRGL RLETHEEASVKMLPTYVRSTPEGSEVGDFLSLDLGGTNFRVMLVKVGEGEEGQWSVKT KHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDIDK GILLNWTKGFKASGAEGNNVVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDHQ CEVGMIVGTGCNACYMEEMQNVELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRLV DESSANPGQQLYEKLIGGKYMGELVRLVLLRLVDENLLFHGEASEQLRTRGAFETRFV SQVESDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINRM RESRSEDVMRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAAL VSAVACKKACMLGQ" gap 2991..3090 /estimated_length=unknown exon 3437..3599 /gene="GCK" /number=2 gap 3828..3927 /estimated_length=unknown exon 4047..4201 /gene="GCK" /number=3 gap 4362..4461 /estimated_length=unknown exon 4592..4711 /gene="GCK" /number=4 gap 5033..5132 /estimated_length=unknown exon 5190..5285 /gene="GCK" /number=5 exon 5395..5494 /gene="GCK" /number=6 gap 5660..5759 /estimated_length=unknown exon 5828..6011 /gene="GCK" /number=7 gap 6252..6351 /estimated_length=unknown exon 6448..6603 /gene="GCK" /number=8 gap 6748..6847 /estimated_length=unknown exon 6961..7194 /gene="GCK" /number=9 gap 7380..7479 /estimated_length=unknown exon 7605..8607 /gene="GCK" /number=10 BASE COUNT 1541 a 2305 c 2311 g 1450 t ORIGIN 1 aggaggagcc agtccctgtg gcctctgttc tgacagtgtc aacctcagcc aggcttgtgg 61 gccaggtgta ctgttgtggt tcagatttca aggagatagt cagggcaggc cgcgcaaagc 121 cctccgatgg gctcccctac tgcctggcag acctgtccag ctttggactc tggccctgcg 181 acctgtccag ctttggactc tggccctgcg acctggaagt caggctgcca agaggtccag 241 gcagtggctc cactgtggag ggtctctgga gagtttacag ccctagatag gggggttagg 301 gatgtgagat ggtcccaggg gcctgctcct gagccacgcc aagctgcctg ctccctttcc 361 tctgcttcca gactcacggg atcctctgct catcagaaca ggagtgtggg agaccctgag 421 acactgcccc aggatctgaa caggtggcaa aggcttaaca ggctagcgtg cactgtagtg 481 acaaggcgat tgagtggtca ccatggtgat ggggatggag gctctttgcc accagtccca 541 gttttatgca tggcagctct aatgacagga tggtcagccc tgctgaggcc actcctggtc 601 accatgacaa ccacaggccc tctcaggagc acagtaagcc ctggcaggag aatcccccac 661 tccacacctg gctggagcag gaaatgccga gcggcgcctg agccccaggg aagcaggcta 721 ggatgtgaga gacacagtca cctgcagcct aattactcaa aagctgtccc caggtcacag 781 aagggagagg acatttccca ctgaatctgt ctgaaggaca ctaagcccca cagctcaaca 841 caaccaggag agaaagtgct gaggacgcca cccaagcgcc cagcaatggc cctgcctgga 901 gaacatccag gctcagtgag gaagggtcca gaagggaatg cttgccgact cgttggagaa 961 caatgaaaag gagaaactgt gactgaacct caaaccccaa accagcccga ggagaaccac 1021 attctcccag ggacccaggg cgggcctgac ccctgcggcg gagaagcctt ggatatttcc 1081 acttcagaag cctactgggg aaggctgagg ggtcccagct ccccacgctg gctgctgtgc 1141 agatgctgga cgacagagcc aggatggagg ccgccaagaa ggagaaggta tctcgccctc 1201 cattgggcat tctgggagtg tttgcttgcc tgtccccaac attccatggt ttgtttgagc 1261 ctcagaatct gattttatgc acaggctctt tgagaagggt cttgccaggg gtgccttctg 1321 gggcaggaag gcctactgcc tggcagaccc atccagcttt ggactctggt cctgcgaccc 1381 ggaagtcagg cgtccaagag gtcnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 1441 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 1501 nnngggatcc ccttgcctcc aagagcaagt ccagacctgc accagcgcgg gccaggcccc 1561 cttaggaccc cctccctgtc caagggcatt tcagtaagtg ttctgtggcc aaggcagcct 1621 ggtgactttc tgcccgcaca aggctgagga atggaagatg ggtaggctct gcacaccccc 1681 tcctgctggg cagcaatccc taccccatgt tcacagagtg tggccggctg ccccatggct 1741 ctgtccccgt ggccctgtca actgttaccc cacatgggcc taccctccct ttctggccct 1801 gcctctgacc ccatggcagg gggcagagta tttgagcagc cgccagctga gccctttcag 1861 tgcagaagcc ctgggctgcc agcctcaggc agctctccat ccaagcagcc gttgctgcca 1921 caggcgggcc ttacgctcca aggctacagc atgtgctagg cctcagcagg caggagcatc 1981 tctgcctccc aaagcatcta cctcttagcc cctcggagag atggcgatgg atgtcacaag 2041 gagccaggcc cagacagcct tgactctggt aagggtcaca ccaaagttag ggactttgca 2101 ctgggagagc agcacccagg gcagggcctt ggttttgcag attaccaaaa ctaaggctgg 2161 gggcagggaa ggcgagcagg cttggggcac cttggaagga ggcacatggg cttgggggtc 2221 ctggctaggg cagctgtgcc tcnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 2281 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 2341 nnctgcagca tctgcccagg gactgccctg gcccttggca tttcctcagg gacccacagc 2401 tccaccagcc ggcccctccc agtgctggaa tagacagttc ctcagtccac atctgccaaa 2461 ggcggcacta gaaggcatcc tgcctttttt actgcgttct ggaggtgggg tcacaaagca 2521 ctgctcactg cataaaaggg acagcatcct gcccctggca gccctgcctg accagctccg 2581 cctctcccac tgctatccaa cctgtacacc ctggtgacca tgtccaggcc agtggcctta 2641 aggactgtct ctgtactgat ggctccacat ctacctctcc agccagactc tcctctgaac 2701 tcgggcctca catggccaac tgctacttgg aacaaatcgc cccttggctg gcagatgtgt 2761 taacatgccc agaccaagat cccaactccc acaacccaac tcccaggtca gatggaacct 2821 cttcttccca ggcccttctg ttcctctcct cagcccctcc cacctccctt cagaataagt 2881 ctagactctt atcgctttca ccaagcctgc gcccagcatc cctgcacagg gattgttagg 2941 acagcctgac gccctgcttc caccctgccc caagatgccc tgctctgcag nnnnnnnnnn 3001 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 3061 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn gggacgaagc agggtgctac aggacgctgt 3121 gccacaggga tatcgtcagg gacagaagct actctgccct ctgctgctca cccctccaac 3181 acgctgtggg ctgcatttgt tgagtggctg gtaccagact ctgctcttct gactttccag 3241 ctggttttac ctgtagtaaa gtttgagaag atggtcatcc tgaccccggg gtcagaagac 3301 agaaggaggc ccatggcgtg tgggggagat gccccgtgag gccctcggtg tgcagatgcc 3361 tggtgacagc cccaccctga ggtccccagc ctaccccctc cccagcccga ctgctcccat 3421 ccccctccct gtgcaggtag agcagatcct ggcagagttc cagctgcagg aggaggacct 3481 gaagaaggtg atgagacgga tgcagaagga gatggaccgc ggcctgaggc tggagaccca 3541 tgaagaggcc agtgtgaaga tgctgcccac ctacgtgcgc tccaccccag aaggctcagg 3601 taccacatgg taaccggctc ctcatccaga agcagctgtg ggctcagcct agctgggaga 3661 agcaccccag gcactcccag actcacagcc agcccgagac agaatctcct ggggagcaat 3721 gaagtcctcg acttgggcca gttctcaccc ttggctcctc tggtccggcc ctggggcact 3781 cgggctcacc ctggagctgg caaacctcag gaaaactggc gttttaannn nnnnnnnnnn 3841 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 3901 nnnnnnnnnn nnnnnnnnnn nnnnnnntcc cttgtgcctt ccctcctcct ctttgtaata 3961 tccggctcag tcacctgggg cccacccagc ccaaggccag cctgtgggtg tccctgaggc 4021 tgacacactt ctctctgtgc ctttagaagt cggggacttc ctctccctgg acctgggtgg 4081 cactaacttc agggtgatgc tggtgaaggt gggagaaggt gaggaggggc agtggagcgt 4141 gaagaccaaa caccagatgt actccatccc cgaggacgcc atgaccggca ctgctgagat 4201 ggtgagcagc gcaggggccg gggcaggggg caaggcatgc aggatctcag ggcccagcta 4261 gtcctgacgg gaggtgccac ctgtctacca ggggtgggga gagcgggggc tggaggacca 4321 cccagcctca gaggcagctg gaggcctggg tgaacaggac tnnnnnnnnn nnnnnnnnnn 4381 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 4441 nnnnnnnnnn nnnnnnnnnn ngacaggcct ggcattcagt ggccaggtgt tgcagtgtcc 4501 ctgaggaata gcttggcttg aggccgtggg gagggctgcc ggccagcgca cccccccatg 4561 ccagatggtc accatggcgt gcatcttcca gctcttcgac tacatctctg agtgcatctc 4621 cgacttcctg gacaagcatc agatgaaaca caagaagctg cccctgggct tcaccttctc 4681 ctttcctgtg aggcacgaag acatcgataa ggtgggccgg gtggaggggc agaaggcaga 4741 tgaggggagg cacaggcacc ccagaggaac tctgccttca aatgtagccc ccataccctg 4801 tgctcagaag ggagatctgg attcaaattg tggccatgtc acctgccact ctaatgctgt 4861 ggaaaagaag catcacatta gctaattctg gctgtgcgcc ttgtgaggca ccagctatga 4921 tcaccccact ccagtggaaa gagcagctgg cagtagggtg gggctcaaac tcaggcagcc 4981 ggctctgggt catcagccag tcatgtcaca tgcctatgct agtcagaatg tgnnnnnnnn 5041 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 5101 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnccctagca ccctgcctcc agatatgtta 5161 gcagccacga ggcctatctc tccccacagg gcatccttct caactggacc aagggcttca 5221 aggcctcagg agcagaaggg aacaatgtcg tggggcttct gcgagacgct atcaaacgga 5281 gaggggtgag ggggcacctg tacctgccgg gggggctgcc ctgggccacc caccccagca 5341 ctgcctgcct ttctccttgg cttccagcac tgcagcttct gtgcttcttg gcaggacttt 5401 gaaatggatg tggtggcaat ggtgaatgac acggtggcca cgatgatctc ctgctactac 5461 gaagaccatc agtgcgaggt cggcatgatc gtgggtaagg gctccttgca cccctgcccc 5521 ttccagactg ccgaggctcc ctgtgtacaa caggcttcaa gggccctgtg ggtgagggcc 5581 aaactactta acaaccggtg atgtcagagc agagcctggt gctacagcct gggtggtctt 5641 ggggtatcaa gatggaagcn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 5701 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnng 5761 gcaggaacca ggccctactc cggggcagtg cagctctcgc tgacagtccc cccgacctcc 5821 accccaggca cgggctgcaa tgcctgctac atggaggaga tgcagaatgt ggagctggtg 5881 gagggggacg agggccgcat gtgcgtcaat accgagtggg gcgccttcgg ggactccggc 5941 gagctggacg agttcctgct ggagtatgac cgcctggtgg acgagagctc tgcaaacccc 6001 ggtcagcagc tgtaaggatg cccccctccc ccacaaccca ggccctgggc gctctggtgc 6061 agcggcagat gggagccggg ccattgcaga taatgggctt gtttttaaac aactctgggg 6121 aaaagcaaac tgacaatccg ttcgtaagct ccatcccttc tgctcagtca tgacctgccc 6181 ctgtgagaga tgaagggtta gtcccagttg tgatgtgata agcccagacc tctttccttc 6241 cgacaggtga tnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 6301 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn ncctcagtgg 6361 ggagcactgg ggccggctcc cggcttccac ctgcatgagg ggccctccct cgtgcctgct 6421 gatgtaatgg tcctgcccta tgtccaggta tgagaagctc ataggtggca agtacatggg 6481 cgagctggtg cggcttgtgc tgctcaggct cgtggacgaa aacctgctct tccacgggga 6541 ggcctccgag cagctgcgca cacgcggagc cttcgagacg cgcttcgtgt cgcaggtgga 6601 gaggtgtgcg gaggaggagg gtgggtgcaa agggcagggg ctggggtcgc ccgggcactg 6661 cagacttggt ctcagggcga cgctgagtcc caggcccggg gcgcagggac gggaaactag 6721 ggcctggggc gggattccgg gcgtgggnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 6781 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 6841 nnnnnnngct gggggacggc tggccggggc ccctccctgg agaacgagag gccgccgctg 6901 gagggggatg gactgtcgga gcgacactca gcgaccgccc tacctcctcc cgccccgcag 6961 cgacacgggc gaccgcaagc agatctacaa catcctgagc acgctggggc tgcgaccctc 7021 gaccaccgac tgcgacatcg tgcgccgcgc ctgcgagagc gtgtctacgc gcgctgcgca 7081 catgtgctcg gcggggctgg cgggcgtcat caaccgcatg cgcgagagcc gcagcgagga 7141 cgtaatgcgc atcactgtgg gcgtggatgg ctccgtgtac aagctgcacc ccaggtgagc 7201 ctgccccgct ctctccctgg taaagtgggg cccaaaaagc gcgcgctcca aggttccttg 7261 cggttcccaa gctccaagat ttcgtagtcc tcttctcgtc ccccttggcc tagatttggg 7321 ggaagggtcg actgcgtgca gggcgcccgg taatgaatgt ggaggatgag gtgggaggan 7381 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 7441 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnt agagtcttct cgaccccctt 7501 ggcctagatt tgggggaagg gtcgactgcg tgcagggcgc ccggtaatga atgtggagga 7561 tgaggtggga ggagggacgg cagccctgct tctcttctgc ccagcttcaa ggagcggttc 7621 catgccagcg tgcgcaggct gacgcccagc tgcgagatca ccttcatcga gtcggaggag 7681 ggcagtggcc ggggcgcggc cctggtctcg gcggtggcct gtaagaaggc ctgtatgctg 7741 ggccagtgag agcagtggcc gcaagcgcag ggaggatgcc acagccccac agcacccagg 7801 ctccatgggg aagtgctccc cacacgtgct cgcagcctgg cggggcagga ggcctggcct 7861 tgtcaggacc caggccgcct gccataccgc tggggaacag agcgggcctc ttccctcagt 7921 ttttcggtgg gacagcccca gggccctaac gggggtgcgg caggagcagg aacagagact 7981 ctggaagccc cccacctttc tcgctggaat caatttccca gaagggagtt gctcactcag 8041 gactttgatg catttccaca ctgtcagagc tgttggcctc gcctgggccc aggctctggg 8101 aaggggtgcc ctctggatcc tgctgtggcc tcacttccct gggaactcat cctgtgtggg 8161 gaggcagctc caacagcttg accagaccta gacctgggcc aaaagggcag ccaggggctg 8221 ctcatcaccc agtcctggcc attttcttgc ctgaggctca agaggcccag ggagcaatgg 8281 gagggggctc catggaggag gtgtcccaag ctttgaatac ccccagagac cttttctctc 8341 ccataccatc actgagtggc ttgtgattct gggatggacc ctcgcagcag gtgcaagaga 8401 cagagccccc aagcctctgc cccaaggggc ccacaaaggg gagaagggcc agccctacat 8461 cttcagctcc catagcgctg gctcaggaag aaaccccaag cagcattcag cacaccccaa 8521 gggacaaccc catcatatga catgccaccc tctccatgcc caacctaaga ttgtgtgggt 8581 tttttaatta aaaatgttaa aagtttt //