LOCUS       NM_006488               2397 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens ketohexokinase (KHK), transcript variant b, mRNA.
ACCESSION   NM_006488
VERSION     NM_006488.3
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 2397)
  AUTHORS   Park,S.H., Helsley,R.N., Fadhul,T., Willoughby,J.L.S., Noetzli,L.,
            Tu,H.C., Solheim,M.H., Fujisaka,S., Pan,H., Dreyfuss,J.M., Bons,J.,
            Rose,J., King,C.D., Schilling,B., Lusis,A.J., Pan,C., Gupta,M.,
            Kulkarni,R.N., Fitzgerald,K., Kern,P.A., Divanovic,S., Kahn,C.R.
            and Softic,S.
  TITLE     Fructose induced KHK-C can increase ER stress independent of its
            effect on lipogenesis to drive liver disease in diet-induced and
            genetic models of NAFLD
  JOURNAL   Metabolism 145, 155591 (2023)
   PUBMED   37230214
  REMARK    GeneRIF: Fructose induced KHK-C can increase ER stress independent
            of its effect on lipogenesis to drive liver disease in diet-induced
            and genetic models of NAFLD.
REFERENCE   2  (bases 1 to 2397)
  AUTHORS   Shen,Z., Li,Z., Liu,Y., Li,Y., Feng,X., Zhan,Y., Lin,M., Fang,C.,
            Fang,Y. and Deng,H.
  TITLE     GLUT5-KHK axis-mediated fructose metabolism drives proliferation
            and chemotherapy resistance of colorectal cancer
  JOURNAL   Cancer Lett 534, 215617 (2022)
   PUBMED   35257833
  REMARK    GeneRIF: GLUT5-KHK axis-mediated fructose metabolism drives
            proliferation and chemotherapy resistance of colorectal cancer.
REFERENCE   3  (bases 1 to 2397)
  AUTHORS   Deng,Q., Wu,M. and Deng,J.
  TITLE     USP36 promotes tumor growth of non-small cell lung cancer via
            increasing KHK-A expression by regulating c-MYC-hnRNPH1/H2 axis
  JOURNAL   Hum Cell 35 (2), 694-704 (2022)
   PUBMED   35133629
  REMARK    GeneRIF: USP36 promotes tumor growth of non-small cell lung cancer
            via increasing KHK-A expression by regulating c-MYC-hnRNPH1/H2
            axis.
REFERENCE   4  (bases 1 to 2397)
  AUTHORS   Johnston,J.A., Nelson,D.R., Bhatnagar,P., Curtis,S.E., Chen,Y. and
            MacKrell,J.G.
  TITLE     Prevalence and cardiometabolic correlates of ketohexokinase gene
            variants among UK Biobank participants
  JOURNAL   PLoS One 16 (2), e0247683 (2021)
   PUBMED   33621267
  REMARK    GeneRIF: Prevalence and cardiometabolic correlates of
            ketohexokinase gene variants among UK Biobank participants.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2397)
  AUTHORS   Kim,J., Kang,J., Kang,Y.L., Woo,J., Kim,Y., Huh,J. and Park,J.W.
  TITLE     Ketohexokinase-A acts as a nuclear protein kinase that mediates
            fructose-induced metastasis in breast cancer
  JOURNAL   Nat Commun 11 (1), 5436 (2020)
   PUBMED   33116123
  REMARK    GeneRIF: Ketohexokinase-A acts as a nuclear protein kinase that
            mediates fructose-induced metastasis in breast cancer.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2397)
  AUTHORS   Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
            Wiemann,S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   7  (bases 1 to 2397)
  AUTHORS   Hayward,B.E. and Bonthron,D.T.
  TITLE     Structure and alternative splicing of the ketohexokinase gene
  JOURNAL   Eur J Biochem 257 (1), 85-91 (1998)
   PUBMED   9799106
REFERENCE   8  (bases 1 to 2397)
  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   9  (bases 1 to 2397)
  AUTHORS   Bonthron,D.T., Brady,N., Donaldson,I.A. and Steinmann,B.
  TITLE     Molecular basis of essential fructosuria: molecular cloning and
            mutational analysis of human ketohexokinase (fructokinase)
  JOURNAL   Hum Mol Genet 3 (9), 1627-1631 (1994)
   PUBMED   7833921
REFERENCE   10 (bases 1 to 2397)
  AUTHORS   Bais,R., James,H.M., Rofe,A.M. and Conyers,R.A.
  TITLE     The purification and properties of human liver ketohexokinase. A
            role for ketohexokinase and fructose-bisphosphate aldolase in the
            metabolic production of oxalate from xylitol
  JOURNAL   Biochem J 230 (1), 53-60 (1985)
   PUBMED   2996495
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC013403.9.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_006488.2.
            
            Summary: This gene encodes ketohexokinase that catalyzes conversion
            of fructose to fructose-1-phosphate. The product of this gene is
            the first enzyme with a specialized pathway that catabolizes
            dietary fructose. Alternatively spliced transcript variants
            encoding different isoforms have been identified. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant utilizes the alternate exon 3c and
            encodes isoform b, which exhibits higher enzymatic activity than
            isoform a.
            
            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 :: AK130033.1, SRR5189664.22055.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000260598.10/ ENSP00000260598.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-580               AC013403.9         27472-28051
            581-697             AC013403.9         33032-33148
            698-832             AC013403.9         35500-35634
            833-905             AC013403.9         37429-37501
            906-1052            AC013403.9         38203-38349
            1053-1141           AC013403.9         39896-39984
            1142-1299           AC013403.9         40120-40277
            1300-2397           AC013403.9         40365-41462
FEATURES             Location/Qualifiers
     source          1..2397
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p23.3"
     gene            1..2397
                     /gene="KHK"
                     /gene_synonym="FRUCTU"
                     /note="ketohexokinase"
                     /db_xref="GeneID:3795"
                     /db_xref="HGNC:HGNC:6315"
                     /db_xref="MIM:614058"
     exon            1..580
                     /gene="KHK"
                     /gene_synonym="FRUCTU"
                     /inference="alignment:Splign:2.1.0"
     CDS             489..1385
                     /gene="KHK"
                     /gene_synonym="FRUCTU"
                     /EC_number="2.7.1.3"
                     /note="isoform b is encoded by transcript variant b;
                     hepatic fructokinase; testicular tissue protein Li 102"
                     /codon_start=1
                     /product="ketohexokinase isoform b"
                     /protein_id="NP_006479.1"
                     /db_xref="CCDS:CCDS1735.1"
                     /db_xref="GeneID:3795"
                     /db_xref="HGNC:HGNC:6315"
                     /db_xref="MIM:614058"
                     /translation="MEEKQILCVGLVVLDVISLVDKYPKEDSEIRCLSQRWQRGGNAS
                     NSCTVLSLLGAPCAFMGSMAPGHVADFLVADFRRRGVDVSQVAWQSKGDTPSSCCIIN
                     NSNGNRTIVLHDTSLPDVSATDFEKVDLTQFKWIHIEGRNASEQVKMLQRIDAHNTRQ
                     PPEQKIRVSVEVEKPREELFQLFGYGDVVFVSKDVAKHLGFQSAEEALRGLYGRVRKG
                     AVLVCAWAEEGADALGPDGKLLHSDAFPPPRVVDTLGAGDTFNASVIFSLSQGRSVQE
                     ALRFGCQVAGKKCGLQGFDGIV"
     exon            581..697
                     /gene="KHK"
                     /gene_synonym="FRUCTU"
                     /inference="alignment:Splign:2.1.0"
     exon            698..832
                     /gene="KHK"
                     /gene_synonym="FRUCTU"
                     /inference="alignment:Splign:2.1.0"
     exon            833..905
                     /gene="KHK"
                     /gene_synonym="FRUCTU"
                     /inference="alignment:Splign:2.1.0"
     exon            906..1052
                     /gene="KHK"
                     /gene_synonym="FRUCTU"
                     /inference="alignment:Splign:2.1.0"
     exon            1053..1141
                     /gene="KHK"
                     /gene_synonym="FRUCTU"
                     /inference="alignment:Splign:2.1.0"
     exon            1142..1299
                     /gene="KHK"
                     /gene_synonym="FRUCTU"
                     /inference="alignment:Splign:2.1.0"
     exon            1300..2397
                     /gene="KHK"
                     /gene_synonym="FRUCTU"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1584..1589
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KHK"
                     /gene_synonym="FRUCTU"
                     /note="hexamer: AATAAA"
     polyA_site      1604
                     /gene="KHK"
                     /gene_synonym="FRUCTU"
                     /note="major polyA site"
     regulatory      2366..2371
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KHK"
                     /gene_synonym="FRUCTU"
                     /note="hexamer: TATAAA"
     polyA_site      2378
                     /gene="KHK"
                     /gene_synonym="FRUCTU"
ORIGIN      
        1 aggcagggct gcagatgcga ggcccagctg tacctcgcgt gtcccgggtc gggagtcgga
       61 gacgcaggtg caggagagtg cggggcaagt agcgcatttt ctctttgcat tctcgagatc
      121 gcttagccgc gctttaaaaa ggtttgcatc agctgtgagt ccatctgaca agcgaggaaa
      181 ctaaggctga gaagtgggag gcgttgccat ctgcaggccc aggcaacctg ctacgggaag
      241 accggggacc aagacctctg ggttggcttt cctagacccg ctcgggtctt cgggtgtcgc
      301 gaggaagggc cctgctcctt tcgttccctg cacccctggc cgctgcaggt ggctccctgg
      361 aggaggagct cccacgcgga ggaggagcca gggcagctgg gagcggggac accatcctcc
      421 tggataagag gcagaggccg ggaggaaccc cgtcagccgg gcgggcagga agctctggga
      481 gtagcctcat ggaagagaag cagatcctgt gcgtggggct agtggtgctg gacgtcatca
      541 gcctggtgga caagtaccct aaggaggact cggagataag gtgtttgtcc cagagatggc
      601 agcgcggagg caacgcgtcc aactcctgca ccgttctctc cctgctcgga gccccctgtg
      661 ccttcatggg ctcaatggct cctggccatg ttgctgactt cctggtggcc gacttcaggc
      721 ggcggggcgt ggacgtgtct caggtggcct ggcagagcaa gggggacacc cccagctcct
      781 gctgcatcat caacaactcc aatggcaacc gtaccattgt gctccatgac acgagcctgc
      841 cagatgtgtc tgctacagac tttgagaagg ttgatctgac ccagttcaag tggatccaca
      901 ttgagggccg gaacgcatcg gagcaggtga agatgctgca gcggatagac gcacacaaca
      961 ccaggcagcc tccagagcag aagatccggg tgtccgtgga ggtggagaag ccacgagagg
     1021 agctcttcca gctgtttggc tacggagacg tggtgtttgt cagcaaagat gtggccaagc
     1081 acttggggtt ccagtcagca gaggaagcct tgaggggctt gtatggtcgt gtgaggaaag
     1141 gggctgtgct tgtctgtgcc tgggctgagg agggcgccga cgccctgggc cctgatggca
     1201 aattgctcca ctcggatgct ttcccgccac cccgcgtggt ggatacactg ggagctggag
     1261 acaccttcaa tgcctccgtc atcttcagcc tctcccaggg gaggagcgtg caggaagcac
     1321 tgagattcgg gtgccaggtg gccggcaaga agtgtggcct gcagggcttt gatggcatcg
     1381 tgtgagagca ggtgccggct cctcacacac catggagact accattgcgg ctgcatcgcc
     1441 ttctcccctc catccagcct ggcgtccagg ttgccctgtt caggggacag atgcaagctg
     1501 tggggaggac tctgcctgtg tcctgtgttc cccacaggga gaggctctgg ggggatggct
     1561 gggggatgca gagcctcaga gcaaataaat cttcctcaga gccagcttct cctctcaatg
     1621 tctgaactgc tctggctggg cattcctgag gctctgactc ttcgatcctc cctctttgtg
     1681 tccattcccc aaattaacct ctccgcccag gcccagagga ggggctgcct gggctagagc
     1741 agcgagaagt gccctgggct tgccaccagc tctgccctgg ctggggagga cactcggtgc
     1801 cccacaccca gtgaacctgc caaagaaacc gtgagagctc ttcggggccc tgcgttgtgc
     1861 agactctatt cccacagctc agaagctggg agtccacacc gctgagctga actgacaggc
     1921 cagtgggggg caggggtgcg cctcctctgc cctgcccacc agcctgtgat ttgatggggt
     1981 cttcattgtc cagaaatacc tcctcccgct gactgcccca gagcctgaaa gtctcaccct
     2041 tggagcccac cttggaatta agggcgtgcc tcagccacaa atgtgaccca ggatacagag
     2101 tgttgctgtc ctcagggagg tccgatctgg aacacatatt ggaattgggg ccaactccaa
     2161 tatagggtgg gtaaggcctt ataatgtaaa gagcatataa tgtaaagggc tttagagtga
     2221 gacagacctg gattaaaatc tgccatttaa ttagctgcat atcaccttag ggtacagcac
     2281 ttaacgcaat ctgcctcaat ttcttcatct gtcaaatgga accaattctg cttggctaca
     2341 gaattattgt gaggataaaa tcatatataa aatgcccagc atgatgcctg atgtgta
//
