LOCUS       NM_001354802            1610 bp    mRNA    linear   PRI 04-DEC-2024
DEFINITION  Homo sapiens glucokinase (GCK), transcript variant 5, mRNA.
ACCESSION   NM_001354802
VERSION     NM_001354802.1
KEYWORDS    RefSeq.
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 1610)
  AUTHORS   Lahnsteiner,A., Ellmer,V., Oberlercher,A., Liutkeviciute,Z.,
            Schonauer,E., Paulweber,B., Aigner,E. and Risch,A.
  TITLE     G-quadruplex forming regions in GCK and TM6SF2 are targets for
            differential DNA methylation in metabolic disease and
            hepatocellular carcinoma patients
  JOURNAL   Sci Rep 14 (1), 20215 (2024)
   PUBMED   39215018
  REMARK    GeneRIF: G-quadruplex forming regions in GCK and TM6SF2 are targets
            for differential DNA methylation in metabolic disease and
            hepatocellular carcinoma patients.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1610)
  AUTHORS   Gersing,S., Schulze,T.K., Cagiada,M., Stein,A., Roth,F.P.,
            Lindorff-Larsen,K. and Hartmann-Petersen,R.
  TITLE     Characterizing glucokinase variant mechanisms using a multiplexed
            abundance assay
  JOURNAL   Genome Biol 25 (1), 98 (2024)
   PUBMED   38627865
  REMARK    GeneRIF: Characterizing glucokinase variant mechanisms using a
            multiplexed abundance assay.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1610)
  AUTHORS   Wang,T., Zhu,M., Wang,Y., Hu,C., Fang,C. and Hu,J.
  TITLE     Two novel GCK mutations in Chinese patients with maturity-onset
            diabetes of the young
  JOURNAL   Endocrine 83 (1), 92-98 (2024)
   PUBMED   37847371
  REMARK    GeneRIF: Two novel GCK mutations in Chinese patients with
            maturity-onset diabetes of the young.
REFERENCE   4  (bases 1 to 1610)
  AUTHORS   Cho,J., Horikawa,Y., Oiwa,Y., Hosomichi,K., Yabe,D. and Imai,T.
  TITLE     Glucokinase Variant Proteins Are Resistant to Fasting-Induced
            Uridine Diphosphate Glucose-Dependent Degradation in Maturity-Onset
            Diabetes of the Young Type 2 Patients
  JOURNAL   Int J Mol Sci 24 (21), 15842 (2023)
   PUBMED   37958824
  REMARK    GeneRIF: Glucokinase Variant Proteins Are Resistant to
            Fasting-Induced Uridine Diphosphate Glucose-Dependent Degradation
            in Maturity-Onset Diabetes of the Young Type 2 Patients.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1610)
  AUTHORS   Naylor,R., Knight Johnson,A. and del Gaudio,D.
  TITLE     Maturity-Onset Diabetes of the Young Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   29792621
REFERENCE   6  (bases 1 to 1610)
  AUTHORS   De Leon,D.D. and Pinney,S.E.
  TITLE     Permanent Neonatal Diabetes Mellitus
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301620
REFERENCE   7  (bases 1 to 1610)
  AUTHORS   Gillis,D.
  TITLE     Nonsyndromic Genetic Hyperinsulinism Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301549
REFERENCE   8  (bases 1 to 1610)
  AUTHORS   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.
  TITLE     Missense glucokinase mutation in maturity-onset diabetes of the
            young and mutation screening in late-onset diabetes
  JOURNAL   Nat Genet 2 (2), 153-156 (1992)
   PUBMED   1303265
REFERENCE   9  (bases 1 to 1610)
  AUTHORS   Tanizawa,Y., Matsutani,A., Chiu,K.C. and Permutt,M.A.
  TITLE     Human glucokinase gene: isolation, structural characterization, and
            identification of a microsatellite repeat polymorphism
  JOURNAL   Mol Endocrinol 6 (7), 1070-1081 (1992)
   PUBMED   1354840
REFERENCE   10 (bases 1 to 1610)
  AUTHORS   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.
  TITLE     Linkage of type 2 diabetes to the glucokinase gene
  JOURNAL   Lancet 339 (8805), 1307-1310 (1992)
   PUBMED   1349989
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC006454.4.
            
            Summary: This gene encodes a member of the hexokinase family of
            proteins. Hexokinases phosphorylate glucose to produce
            glucose-6-phosphate, the first step in most glucose metabolism
            pathways. 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. The use of multiple promoters and
            alternative splicing of this gene result in distinct protein
            isoforms that exhibit tissue-specific expression in the pancreas
            and liver. In the pancreas, this enzyme plays a role in
            glucose-stimulated insulin secretion, while in the liver, this
            enzyme is important in glucose uptake and conversion to glycogen.
            Mutations in this gene that alter enzyme activity have been
            associated with multiple types of diabetes and hyperinsulinemic
            hypoglycemia. [provided by RefSeq, Aug 2017].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.300314.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2162568 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-236               AC006454.4         106456-106691
            237-470             AC006454.4         106870-107103
            471-586             AC006454.4         107320-107435
            587-1610            AC006454.4         108364-109387
FEATURES             Location/Qualifiers
     source          1..1610
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p13"
     gene            1..1610
                     /gene="GCK"
                     /gene_synonym="FGQTL3; GK; GLK; HHF3; HK4; HKIV; HXKP;
                     LGLK; MODY2; PNDM1"
                     /note="glucokinase"
                     /db_xref="GeneID:2645"
                     /db_xref="HGNC:HGNC:4195"
                     /db_xref="MIM:138079"
     exon            1..236
                     /gene="GCK"
                     /gene_synonym="FGQTL3; GK; GLK; HHF3; HK4; HKIV; HXKP;
                     LGLK; MODY2; PNDM1"
                     /inference="alignment:Splign:2.1.0"
     exon            237..470
                     /gene="GCK"
                     /gene_synonym="FGQTL3; GK; GLK; HHF3; HK4; HKIV; HXKP;
                     LGLK; MODY2; PNDM1"
                     /inference="alignment:Splign:2.1.0"
     CDS             358..588
                     /gene="GCK"
                     /gene_synonym="FGQTL3; GK; GLK; HHF3; HK4; HKIV; HXKP;
                     LGLK; MODY2; PNDM1"
                     /EC_number="2.7.1.1"
                     /note="isoform 5 is encoded by transcript variant 5;
                     hexokinase D, pancreatic isozyme; ATP:D-hexose
                     6-phosphotransferase; HK IV; hexokinase type IV;
                     glucokinase (hexokinase 4)"
                     /codon_start=1
                     /product="hexokinase-4 isoform 5"
                     /protein_id="NP_001341731.1"
                     /db_xref="GeneID:2645"
                     /db_xref="HGNC:HGNC:4195"
                     /db_xref="MIM:138079"
                     /translation="MCSAGLAGVINRMRESRSEDVMRITVGVDGSVYKLHPSFKERFH
                     ASVRRLTPSCEITFIESEEGSGRGAALVSAVA"
     exon            471..586
                     /gene="GCK"
                     /gene_synonym="FGQTL3; GK; GLK; HHF3; HK4; HKIV; HXKP;
                     LGLK; MODY2; PNDM1"
                     /inference="alignment:Splign:2.1.0"
     exon            587..1610
                     /gene="GCK"
                     /gene_synonym="FGQTL3; GK; GLK; HHF3; HK4; HKIV; HXKP;
                     LGLK; MODY2; PNDM1"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 ggcggggtcc ggacggggat gccaagagca gggatgggag cgagcctgcg tccgggcact
       61 ggtccccatc cgtgagtccc ctcggtgctc cctgcccgcc gtggccatcc tctcacatca
      121 ctcacaaccc caaggcgcgg catggttgac acccccacgt taggacggag accctgggct
      181 tagttagagg gggcagtact aaccagtccc tggcggaaac gctttggctg ggtgagcgac
      241 acgggcgacc gcaagcagat ctacaacatc ctgagcacgc tggggctgcg accctcgacc
      301 accgactgcg acatcgtgcg ccgcgcctgc gagagcgtgt ctacgcgcgc tgcgcacatg
      361 tgctcggcgg ggctggcggg cgtcatcaac cgcatgcgcg agagccgcag cgaggacgta
      421 atgcgcatca ctgtgggcgt ggatggctcc gtgtacaagc tgcaccccag cttcaaggag
      481 cggttccatg ccagcgtgcg caggctgacg cccagctgcg agatcacctt catcgagtcg
      541 gaggagggca gtggccgggg cgcggccctg gtctcggcgg tggcctgact gtggggacaa
      601 tctataaaga gtctgcgtca catgcatgaa gacacttcag tatctcggca atgccctcca
      661 gacagctcct ccagccatct gtgccaaggg gagtgtgagg agtgacagac caggctgtag
      721 gaacaggaat ggggtgtcat gggggatggc agagcagtgg acagtacact gcctggcccg
      781 ggcccctgct tgcctgccca tggaatgtgt gcagagggag tgccaggcca ggtgctgctc
      841 tggagaagtg ggggaatgag gctggtcctg ctgcaggtca gtctcagcac cgtcctgtcc
      901 agtcagagtc acttaggttt gccagtgagt aggggcccag atacatgttg gatttctaag
      961 gtccctccag atgctcctgt cagtggaacg cctatttaga gttagccaag cgtaggcata
     1021 atgccatctt tctgcagcat aaaatacagt gacatagaaa catatttgtg tgattttcat
     1081 gcattccttt tttgatgaga gatattaccc agctaattag gaacaactgt tttgtttcct
     1141 tcagatcata acccaaagtt gtgattttga aaagtcatgt cccccttcag atttcttgtt
     1201 ttctgctact tctcatgtgg aattgctttg gctcttctta gttctcttga gtctaaatta
     1261 ttccttataa gttggtgcaa gcatctgatt attttgttat cattactgtt atgctcaagc
     1321 attcacagag tggaacacat tttaatatca attgctttct atttctcctt tatattacag
     1381 ttcaggacat tgtattaatt attaaaattc tattcgtagg taggttatat gactgaattg
     1441 aaatagataa aatgaatttc ttttctagat aacaaaggag gtgtcataaa acacttgtta
     1501 tgggccagtg tgatggctca tgcctataat ctcagtgctt tgagaggctg aggtggagga
     1561 ttgcttgagg ccaggaattt gagaccagcc tggggcaaca tagcaagacc
//
