LOCUS EU008605 1398 bp mRNA linear HUM 24-JUL-2007
DEFINITION Homo sapiens glucokinase (GCK) mRNA, complete cds.
ACCESSION EU008605
VERSION EU008605.1
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 1398)
AUTHORS Loddo,M., Cavallo,R., Schirru,P.L., Ledda,A., Lorini,R., D'
Amato,E., Zavattari,P., Barbetti,F., Ciusa,M.L., Orru',G. and
Songini,M.
TITLE A novel missense mutation in GCK gene in a Sardinian family with
MODY2 phenotype
JOURNAL Unpublished
REFERENCE 2 (bases 1 to 1398)
AUTHORS Loddo,M., Cavallo,R., Schirru,P.L., Ledda,A., Lorini,R., D'
Amato,E., Zavattari,P., Barbetti,F., Ciusa,M.L., Orru',G. and
Songini,M.
TITLE Direct Submission
JOURNAL Submitted (29-JUN-2007) Diabetologia, Azienda Ospedaliera Brotzu,
via Peretti, Cagliari, Ca 09134, Italy
FEATURES Location/Qualifiers
source 1..1398
/db_xref="H-InvDB:HIT000484266"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
gene 1..1398
/gene="GCK"
/gene_synonym="MODY2"
CDS 1..1398
/gene="GCK"
/gene_synonym="MODY2"
/note="hexokinase 4, maturity onset diabetes of the young
2"
/codon_start=1
/product="glucokinase"
/protein_id="ABS31137.1"
/translation="MLDDRARMEAAKKEKVEQILAEFQLQEEDLKKVMRRMQKEMDRG
LRLETHEEASVKMLPTYVRSTPEGSEVGDFLSLDLGGTNFRVMLVKVGEGEEGQWSVK
TKHQMYSIPEDAMTGTAEMLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDID
KGILLNWTKGFKASGAEGNNVVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDH
QCEVGMIVGTGCNACYMEEMQNVELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRL
VDESSANPGQQLYEKLIGGKYMGELVRLVLLRLVDENLPFHGEASEQLRTRGAFETRF
VSQVESDTGDRKQIYNILSTLGLRPSTTDCDIVRRACESVSTRAAHMCSAGLAGVINR
MRESRSEDVMRITVGVDGSVYKLHPSFKERFHASVRRLTPSCEITFIESEEGSGRGAA
LVSAVACKKACMLGQ"
BASE COUNT 303 a 374 c 484 g 237 t
ORIGIN
1 atgctggacg acagagccag gatggaggcc gccaagaagg agaaggtaga gcagatcctg
61 gcagagttcc agctgcagga ggaggacctg aagaaggtga tgagacggat gcagaaggag
121 atggaccgcg gcctgaggct ggagacccat gaagaggcca gtgtgaagat gctgcccacc
181 tacgtgcgct ccaccccaga aggctcagaa gtcggggact tcctctccct ggacctgggt
241 ggcactaact tcagggtgat gctggtgaag gtgggagaag gtgaggaggg gcagtggagc
301 gtgaagacca aacaccagat gtactccatc cccgaggacg ccatgaccgg cactgctgag
361 atgctcttcg actacatctc tgagtgcatc tccgacttcc tggacaagca tcagatgaaa
421 cacaagaagc tgcccctggg cttcaccttc tcctttcctg tgaggcacga agacatcgat
481 aagggcatcc ttctcaactg gaccaagggc ttcaaggcct caggagcaga agggaacaat
541 gtcgtggggc ttctgcgaga cgctatcaaa cggagagggg actttgaaat ggatgtggtg
601 gcaatggtga atgacacggt ggccacgatg atctcctgct actacgaaga ccatcagtgc
661 gaggtcggca tgatcgtggg cacgggctgc aatgcctgct acatggagga gatgcagaat
721 gtggagctgg tggaggggga cgagggccgc atgtgcgtca ataccgagtg gggcgccttc
781 ggggactccg gcgagctgga cgagttcctg ctggagtatg accgcctggt ggacgagagc
841 tctgcaaacc ccggtcagca gctgtatgag aagctcatag gtggcaagta catgggcgag
901 ctggtgcggc ttgtgctgct caggctcgtg gacgaaaacc tgcccttcca cggggaggcc
961 tccgagcagc tgcgcacacg cggagccttc gagacgcgct tcgtgtcgca ggtggagagc
1021 gacacgggcg accgcaagca gatctacaac atcctgagca cgctggggct gcgaccctcg
1081 accaccgact gcgacatcgt gcgccgcgcc tgcgagagcg tgtctacgcg cgctgcgcac
1141 atgtgctcgg cggggctggc gggcgtcatc aaccgcatgc gcgagagccg cagcgaggac
1201 gtaatgcgca tcactgtggg cgtggatggc tccgtgtaca agctgcaccc cagcttcaag
1261 gagcggttcc atgccagcgt gcgcaggctg acgcccagct gcgagatcac cttcatcgag
1321 tcggaggagg gcagtggccg gggcgcggcc ctggtctcgg cggtggcctg taagaaggcc
1381 tgtatgctgg gccagtag
//