LOCUS       NM_001486               2189 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens glucokinase regulator (GCKR), mRNA.
ACCESSION   NM_001486
VERSION     NM_001486.4
KEYWORDS    RefSeq; MANE Select.
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 2189)
  AUTHORS   Husseini,A.A.
  TITLE     Genotypic variation in CYP2E1, GCKR, and PNPLA3 among nonalcoholic
            steatohepatitis patients of Turkish origin
  JOURNAL   Mol Biol Rep 51 (1), 845 (2024)
   PUBMED   39042259
  REMARK    GeneRIF: Genotypic variation in CYP2E1, GCKR, and PNPLA3 among
            nonalcoholic steatohepatitis patients of Turkish origin.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2189)
  AUTHORS   Singh,C., Jin,B., Shrestha,N., Markhard,A.L., Panda,A., Calvo,S.E.,
            Deik,A., Pan,X., Zuckerman,A.L., Ben Saad,A., Corey,K.E.,
            Sjoquist,J., Osganian,S., AminiTabrizi,R., Rhee,E.P., Shah,H.,
            Goldberger,O., Mullen,A.C., Cracan,V., Clish,C.B., Mootha,V.K. and
            Goodman,R.P.
  TITLE     ChREBP is activated by reductive stress and mediates
            GCKR-associated metabolic traits
  JOURNAL   Cell Metab 36 (1), 144-158 (2024)
   PUBMED   38101397
  REMARK    GeneRIF: ChREBP is activated by reductive stress and mediates
            GCKR-associated metabolic traits.
REFERENCE   3  (bases 1 to 2189)
  AUTHORS   Shen,M., Jiang,L., Liu,H., Dai,H., Jiang,H., Qian,Y., Wang,Z.,
            Zheng,S., Chen,H., Yang,T., Fu,Q. and Xu,K.
  TITLE     Interaction between the GCKR rs1260326 variant and serum HDL
            cholesterol contributes to HOMA-beta and ISIMatusda in the
            middle-aged T2D individuals
  JOURNAL   J Hum Genet 68 (12), 835-842 (2023)
   PUBMED   37648893
  REMARK    GeneRIF: Interaction between the GCKR rs1260326 variant and serum
            HDL cholesterol contributes to HOMA-beta and ISIMatusda in the
            middle-aged T2D individuals.
REFERENCE   4  (bases 1 to 2189)
  AUTHORS   Zhu,M., Lv,Y., Peng,Y., Wu,Y., Feng,Y., Jia,T., Xu,S., Li,S.,
            Wang,W., Tian,J. and Sun,L.
  TITLE     GCKR and ADIPOQ gene polymorphisms in women with gestational
            diabetes mellitus
  JOURNAL   Acta Diabetol 60 (12), 1709-1718 (2023)
   PUBMED   37524927
  REMARK    GeneRIF: GCKR and ADIPOQ gene polymorphisms in women with
            gestational diabetes mellitus.
REFERENCE   5  (bases 1 to 2189)
  AUTHORS   Nisar,T., Arshad,K., Abbas,Z., Khan,M.A., Safdar,S., Shaikh,R.S.
            and Saeed,A.
  TITLE     Prevalence of GCKR rs1260326 Variant in Subjects with Obesity
            Associated NAFLD and T2DM: A Case-Control Study in South Punjab,
            Pakistan
  JOURNAL   J Obes 2023, 6661858 (2023)
   PUBMED   37829557
  REMARK    GeneRIF: Prevalence of GCKR rs1260326 Variant in Subjects with
            Obesity Associated NAFLD and T2DM: A Case-Control Study in South
            Punjab, Pakistan.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2189)
  AUTHORS   Brown,K.S., Kalinowski,S.S., Megill,J.R., Durham,S.K. and
            Mookhtiar,K.A.
  TITLE     Glucokinase regulatory protein may interact with glucokinase in the
            hepatocyte nucleus
  JOURNAL   Diabetes 46 (2), 179-186 (1997)
   PUBMED   9000692
REFERENCE   7  (bases 1 to 2189)
  AUTHORS   Hayward,B.E., Fantes,J.A., Warner,J.P., Intody,S., Leek,J.P.,
            Markham,A.F. and Bonthron,D.T.
  TITLE     Co-localization of the ketohexokinase and glucokinase regulator
            genes to a 500-kb region of chromosome 2p23
  JOURNAL   Mamm Genome 7 (6), 454-458 (1996)
   PUBMED   8662230
REFERENCE   8  (bases 1 to 2189)
  AUTHORS   Veiga-da-Cunha,M., Courtois,S., Michel,A., Gosselain,E. and Van
            Schaftingen,E.
  TITLE     Amino acid conservation in animal glucokinases. Identification of
            residues implicated in the interaction with the regulatory protein
  JOURNAL   J Biol Chem 271 (11), 6292-6297 (1996)
   PUBMED   8626423
REFERENCE   9  (bases 1 to 2189)
  AUTHORS   Warner,J.P., Leek,J.P., Intody,S., Markham,A.F. and Bonthron,D.T.
  TITLE     Human glucokinase regulatory protein (GCKR): cDNA and genomic
            cloning, complete primary structure, and chromosomal localization
  JOURNAL   Mamm Genome 6 (8), 532-536 (1995)
   PUBMED   8589523
REFERENCE   10 (bases 1 to 2189)
  AUTHORS   Vaxillaire,M., Vionnet,N., Vigouroux,C., Sun,F., Espinosa,R. 3rd,
            Lebeau,M.M., Stoffel,M., Lehto,M., Beckmann,J.S., Detheux,M. et al.
  TITLE     Search for a third susceptibility gene for maturity-onset diabetes
            of the young. Studies with eleven candidate genes
  JOURNAL   Diabetes 43 (3), 389-395 (1994)
   PUBMED   7508874
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA011063.1, BC130483.1,
            CD368544.1 and Z48475.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001486.3.
            
            Summary: This gene encodes a protein belonging to the GCKR
            subfamily of the SIS (Sugar ISomerase) family of proteins. The gene
            product is a regulatory protein that inhibits glucokinase in liver
            and pancreatic islet cells by binding non-covalently to form an
            inactive complex with the enzyme. This gene is considered a
            susceptibility gene candidate for a form of maturity-onset diabetes
            of the young (MODY). [provided by RefSeq, Jul 2008].
            
            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 :: Z48475.1, BC130481.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000264717.7/ ENSP00000264717.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-555               DA011063.1         1-555
            556-1402            BC130483.1         536-1382
            1403-1488           CD368544.1         268-353             c
            1489-2037           BC130483.1         1469-2017
            2038-2189           Z48475.1           2035-2186
FEATURES             Location/Qualifiers
     source          1..2189
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p23.3"
     gene            1..2189
                     /gene="GCKR"
                     /gene_synonym="FGQTL5; GKRP"
                     /note="glucokinase regulator"
                     /db_xref="GeneID:2646"
                     /db_xref="HGNC:HGNC:4196"
                     /db_xref="MIM:600842"
     exon            1..126
                     /gene="GCKR"
                     /gene_synonym="FGQTL5; GKRP"
                     /inference="alignment:Splign:2.1.0"
     CDS             67..1944
                     /gene="GCKR"
                     /gene_synonym="FGQTL5; GKRP"
                     /note="glucokinase (hexokinase 4) regulator; hexokinase 4
                     regulator"
                     /codon_start=1
                     /product="glucokinase regulatory protein"
                     /protein_id="NP_001477.2"
                     /db_xref="CCDS:CCDS1757.1"
                     /db_xref="GeneID:2646"
                     /db_xref="HGNC:HGNC:4196"
                     /db_xref="MIM:600842"
                     /translation="MPGTKRFQHVIETPEPGKWELSGYEAAVPITEKSNPLTQDLDKA
                     DAENIVRLLGQCDAEIFQEEGQALSTYQRLYSESILTTMVQVAGKVQEVLKEPDGGLV
                     VLSGGGTSGRMAFLMSVSFNQLMKGLGQKPLYTYLIAGGDRSVVASREGTEDSALHGI
                     EELKKVAAGKKRVIVIGISVGLSAPFVAGQMDCCMNNTAVFLPVLVGFNPVSMARNDP
                     IEDWSSTFRQVAERMQKMQEKQKAFVLNPAIGPEGLSGSSRMKGGSATKILLETLLLA
                     AHKTVDQGIAASQRCLLEILRTFERAHQVTYSQSPKIATLMKSVSTSLEKKGHVYLVG
                     WQTLGIIAIMDGVECIHTFGADFRDVRGFLIGDHSDMFNQKAELTNQGPQFTFSQEDF
                     LTSILPSLTEIDTVVFIFTLDDNLTEVQTIVEQVKEKTNHIQALAHSTVGQTLLIPLK
                     KLFPSIISITWPLLFFEYEGNFIQKFQRELSTKWVLNTVSTGAHVLLGKILQNHMLDL
                     RISNSKLFWRALAMLQRFSGQSKARCIESLLRAIHFPQPLSDDIRAAPISCHVQVAHE
                     KEQVIPIALLSLLFRCSITEAQAHLAAAPSVCEAVRSALAGPGQKRTADPLEILEPDV
                     Q"
     exon            127..282
                     /gene="GCKR"
                     /gene_synonym="FGQTL5; GKRP"
                     /inference="alignment:Splign:2.1.0"
     exon            283..351
                     /gene="GCKR"
                     /gene_synonym="FGQTL5; GKRP"
                     /inference="alignment:Splign:2.1.0"
     exon            352..420
                     /gene="GCKR"
                     /gene_synonym="FGQTL5; GKRP"
                     /inference="alignment:Splign:2.1.0"
     exon            421..494
                     /gene="GCKR"
                     /gene_synonym="FGQTL5; GKRP"
                     /inference="alignment:Splign:2.1.0"
     exon            495..561
                     /gene="GCKR"
                     /gene_synonym="FGQTL5; GKRP"
                     /inference="alignment:Splign:2.1.0"
     exon            562..615
                     /gene="GCKR"
                     /gene_synonym="FGQTL5; GKRP"
                     /inference="alignment:Splign:2.1.0"
     exon            616..710
                     /gene="GCKR"
                     /gene_synonym="FGQTL5; GKRP"
                     /inference="alignment:Splign:2.1.0"
     exon            711..816
                     /gene="GCKR"
                     /gene_synonym="FGQTL5; GKRP"
                     /inference="alignment:Splign:2.1.0"
     exon            817..935
                     /gene="GCKR"
                     /gene_synonym="FGQTL5; GKRP"
                     /inference="alignment:Splign:2.1.0"
     exon            936..1034
                     /gene="GCKR"
                     /gene_synonym="FGQTL5; GKRP"
                     /inference="alignment:Splign:2.1.0"
     exon            1035..1132
                     /gene="GCKR"
                     /gene_synonym="FGQTL5; GKRP"
                     /inference="alignment:Splign:2.1.0"
     exon            1133..1209
                     /gene="GCKR"
                     /gene_synonym="FGQTL5; GKRP"
                     /inference="alignment:Splign:2.1.0"
     exon            1210..1306
                     /gene="GCKR"
                     /gene_synonym="FGQTL5; GKRP"
                     /inference="alignment:Splign:2.1.0"
     exon            1307..1404
                     /gene="GCKR"
                     /gene_synonym="FGQTL5; GKRP"
                     /inference="alignment:Splign:2.1.0"
     exon            1405..1488
                     /gene="GCKR"
                     /gene_synonym="FGQTL5; GKRP"
                     /inference="alignment:Splign:2.1.0"
     exon            1489..1638
                     /gene="GCKR"
                     /gene_synonym="FGQTL5; GKRP"
                     /inference="alignment:Splign:2.1.0"
     exon            1639..1773
                     /gene="GCKR"
                     /gene_synonym="FGQTL5; GKRP"
                     /inference="alignment:Splign:2.1.0"
     exon            1774..2189
                     /gene="GCKR"
                     /gene_synonym="FGQTL5; GKRP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2167..2172
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GCKR"
                     /gene_synonym="FGQTL5; GKRP"
                     /note="hexamer: AATGAA"
     polyA_site      2189
                     /gene="GCKR"
                     /gene_synonym="FGQTL5; GKRP"
                     /note="major polyA site"
ORIGIN      
        1 attgtgacca gaggggtttg tgtggctgaa gaggcaggag gaacagtgta tccacagcgt
       61 gggaccatgc caggcacaaa acggtttcaa catgtcattg agaccccgga gcctggcaag
      121 tgggagttgt ctgggtacga ggcagctgtg ccaatcacgg agaagtcaaa cccactgacc
      181 caggatctag acaaagcaga tgctgagaac attgttcgac tgctagggca atgtgatgct
      241 gagatcttcc aggaggaggg gcaagccctg tccacatacc agagactcta cagcgaatcc
      301 attctgacca ccatggtaca ggtggctggg aaagttcagg aagtgctgaa ggagccagat
      361 ggggggctgg ttgtgctgag tggagggggc acctctggcc ggatggcatt cctcatgtcg
      421 gtgtccttta atcagctgat gaaaggtctg ggacagaaac ctctttacac ctacctcatt
      481 gcaggtggtg acaggtctgt ggtggcctct agggagggga cagaagatag tgccttgcac
      541 gggattgagg aactgaagaa ggtggctgcc gggaagaaga gagtgattgt cattggcatt
      601 tctgtgggac tctctgctcc ctttgtggca ggccagatgg actgctgcat gaacaacaca
      661 gctgtcttct tgccagtcct ggttggcttc aatccagtga gcatggccag aaatgacccc
      721 attgaagact ggagttcaac attccgacaa gtagcagagc ggatgcagaa aatgcaggag
      781 aaacagaaag cttttgtgct caatcctgcc atcgggcccg agggtctcag cggctcctcc
      841 cggatgaaag gtggaagtgc caccaagatt ctgctggaaa ccctgttatt agcagcccat
      901 aagactgtgg accagggcat tgcagcatct caaagatgcc tcctggaaat cttgcggaca
      961 tttgagcgag ctcatcaggt gacctacagc caaagcccca agattgccac cctgatgaag
     1021 agtgtcagca ccagtctgga gaagaaaggc cacgtgtacc tggttggctg gcagaccctg
     1081 ggcatcattg ccatcatgga tggagtagag tgcatccaca cctttggtgc tgatttccga
     1141 gatgtccgtg gctttctcat tggtgatcac agtgacatgt ttaaccagaa ggctgagctc
     1201 accaaccagg gtccccagtt caccttctcc caggaggact tcctgacttc catccttccc
     1261 tctctcacgg aaatcgatac tgtggtcttc attttcaccc tggatgacaa cctcacggag
     1321 gtgcagacta tagtggagca ggtgaaagag aagaccaacc acatccaggc cctggcacac
     1381 agcaccgtgg gtcagacctt gctgatccct ctgaagaagc tctttccctc catcatcagc
     1441 atcacatggc cactgctttt ctttgaatat gaagggaact tcatccagaa gttccagcgt
     1501 gagctaagca ccaaatgggt gctgaataca gtgagtacag gtgctcatgt gcttcttggt
     1561 aagatcctac aaaaccacat gttggacctt cggattagca actccaagct cttctggcgg
     1621 gcgctggcca tgctgcagcg gttctctgga cagtccaagg ctcgatgcat cgagagcctc
     1681 ctccgagcga tccactttcc ccagccactg tcagatgata ttcgggctgc tcccatctcc
     1741 tgccatgtcc aggttgcaca tgagaaggaa caggtgatac ccatcgcctt gctgagcctc
     1801 ctattccggt gctcgatcac tgaggctcag gcacacctgg ctgcagctcc ttctgtctgt
     1861 gaggctgtca ggagtgctct tgctgggcca ggtcagaagc gcactgcgga ccccctcgag
     1921 atcctagagc ctgacgttca gtgaacccat gtttctgggt gggtgaaagg ggcccaaccc
     1981 tgcccacttc agcccagccc gcccaagggg acttgtgcca gcagaacatg tgggaggaag
     2041 aagccccgtt tccagggcat ccgcagccca gggtagggag aaatattctc tccactttgg
     2101 gggagagttc ttgctctcga cctagtggtt tctactctca ccgacttatt ctgatttcag
     2161 aaataaaatg aaatgtctta ttttggaaa
//
