LOCUS       NM_002626               2907 bp    mRNA    linear   PRI 03-SEP-2024
DEFINITION  Homo sapiens phosphofructokinase, liver type (PFKL), transcript
            variant 2, mRNA.
ACCESSION   NM_002626
VERSION     NM_002626.6
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 2907)
  AUTHORS   Lynch,E.M., Hansen,H., Salay,L., Cooper,M., Timr,S., Kollman,J.M.
            and Webb,B.A.
  TITLE     Structural basis for allosteric regulation of human
            phosphofructokinase-1
  JOURNAL   Nat Commun 15 (1), 7323 (2024)
   PUBMED   39183237
  REMARK    GeneRIF: Structural basis for allosteric regulation of human
            phosphofructokinase-1.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2907)
  AUTHORS   Zhang,X., Geng,L., Tang,Y., Wang,Y., Zhang,Y., Zhu,C., Lei,H.,
            Xu,H., Zhu,Q., Wu,Y. and Gu,W.
  TITLE     Ubiquitin-specific protease 14 targets PFKL-mediated glycolysis to
            promote the proliferation and migration of oral squamous cell
            carcinoma
  JOURNAL   J Transl Med 22 (1), 193 (2024)
   PUBMED   38388430
  REMARK    GeneRIF: Ubiquitin-specific protease 14 targets PFKL-mediated
            glycolysis to promote the proliferation and migration of oral
            squamous cell carcinoma.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2907)
  AUTHORS   Pan,M., Luo,M., Liu,L., Chen,Y., Cheng,Z., Wang,K., Huang,L.,
            Tang,N., Qiu,J., Huang,A. and Xia,J.
  TITLE     EGR1 suppresses HCC growth and aerobic glycolysis by
            transcriptionally downregulating PFKL
  JOURNAL   J Exp Clin Cancer Res 43 (1), 35 (2024)
   PUBMED   38287371
  REMARK    GeneRIF: EGR1 suppresses HCC growth and aerobic glycolysis by
            transcriptionally downregulating PFKL.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2907)
  AUTHORS   Elson,A., Bernstein,Y., Degani,H., Levanon,D., Ben-Hur,H. and
            Groner,Y.
  TITLE     Gene dosage and Down's syndrome: metabolic and enzymatic changes in
            PC12 cells overexpressing transfected human liver-type
            phosphofructokinase
  JOURNAL   Somat Cell Mol Genet 18 (2), 143-161 (1992)
   PUBMED   1533471
REFERENCE   5  (bases 1 to 2907)
  AUTHORS   Polymeropoulos,M.H., Rath,D.S., Xiao,H. and Merril,C.R.
  TITLE     Dinucleotide repeat polymorphism at the human liver-type
            6-phosphofructokinase (PFKL) gene
  JOURNAL   Nucleic Acids Res 19 (9), 2517 (1991)
   PUBMED   1828296
REFERENCE   6  (bases 1 to 2907)
  AUTHORS   Elson,A., Levanon,D., Brandeis,M., Dafni,N., Bernstein,Y.,
            Danciger,E. and Groner,Y.
  TITLE     The structure of the human liver-type phosphofructokinase gene
  JOURNAL   Genomics 7 (1), 47-56 (1990)
   PUBMED   2139864
REFERENCE   7  (bases 1 to 2907)
  AUTHORS   Levanon,D., Danciger,E., Dafni,N., Bernstein,Y., Elson,A.,
            Moens,W., Brandeis,M. and Groner,Y.
  TITLE     The primary structure of human liver type phosphofructokinase and
            its comparison with other types of PFK
  JOURNAL   DNA 8 (10), 733-743 (1989)
   PUBMED   2533063
REFERENCE   8  (bases 1 to 2907)
  AUTHORS   Levanon,D., Danciger,E., Dafni,N. and Groner,Y.
  TITLE     Construction of a cDNA clone containing the entire coding region of
            the human liver-type phosphofructokinase
  JOURNAL   Biochem Biophys Res Commun 147 (3), 1182-1187 (1987)
   PUBMED   2822040
REFERENCE   9  (bases 1 to 2907)
  AUTHORS   Levanon,D., Danciger,E., Dafni,N. and Groner,Y.
  TITLE     Genomic clones of the human liver-type phosphofructokinase
  JOURNAL   Biochem Biophys Res Commun 141 (1), 374-380 (1986)
   PUBMED   2948503
REFERENCE   10 (bases 1 to 2907)
  AUTHORS   Kahn,A., Meienhofer,M.C., Cottreau,D., Lagrange,J.L. and
            Dreyfus,J.C.
  TITLE     Phosphofructokinase (PFK) isozymes in man. I. Studies of adult
            human tissues
  JOURNAL   Hum Genet 48 (1), 93-108 (1979)
   PUBMED   156693
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB997055.1, BU177678.1,
            BC018295.1 and BX351711.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_002626.5.
            
            Summary: This gene encodes the liver (L) subunit of an enzyme that
            catalyzes the conversion of D-fructose 6-phosphate to D-fructose
            1,6-bisphosphate, which is a key step in glucose metabolism
            (glycolysis). This enzyme is a tetramer that may be composed of
            different subunits encoded by distinct genes in different tissues.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Mar 2014].
            
            Transcript Variant: This variant (2) lacks three alternate exons in
            the 5' region and initiates translation at an alternate upstream
            start codon, compared to variant 1. The encoded isoform (b) has a
            distinct N-terminus and is longer 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 :: X15573.1, SRR1803614.169139.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000349048.9/ ENSP00000269848.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-418               CB997055.1         34-451
            419-989             BU177678.1         181-751
            990-2563            BC018295.1         303-1876
            2564-2564           BX351711.2         332-332             c
            2565-2907           BC018295.1         1878-2220
FEATURES             Location/Qualifiers
     source          1..2907
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     gene            1..2907
                     /gene="PFKL"
                     /gene_synonym="ATP-PFK; PFK-B; PFK-L"
                     /note="phosphofructokinase, liver type"
                     /db_xref="GeneID:5211"
                     /db_xref="HGNC:HGNC:8876"
                     /db_xref="MIM:171860"
     exon            1..138
                     /gene="PFKL"
                     /gene_synonym="ATP-PFK; PFK-B; PFK-L"
                     /inference="alignment:Splign:2.1.0"
     CDS             54..2396
                     /gene="PFKL"
                     /gene_synonym="ATP-PFK; PFK-B; PFK-L"
                     /EC_number="2.7.1.11"
                     /note="isoform b is encoded by transcript variant 2;
                     phosphohexokinase; phosphofructo-1-kinase isozyme B;
                     liver-type 1-phosphofructokinase; 6-phosphofructokinase,
                     liver type; 6-phosphofructokinase type B; ATP-dependent
                     6-phosphofructokinase, liver type"
                     /codon_start=1
                     /product="ATP-dependent 6-phosphofructokinase, liver type
                     isoform b"
                     /protein_id="NP_002617.3"
                     /db_xref="CCDS:CCDS33582.1"
                     /db_xref="GeneID:5211"
                     /db_xref="HGNC:HGNC:8876"
                     /db_xref="MIM:171860"
                     /translation="MAAVDLEKLRASGAGKAIGVLTSGGDAQGMNAAVRAVTRMGIYV
                     GAKVFLIYEGYEGLVEGGENIKQANWLSVSNIIQLGGTIIGSARCKAFTTREGRRAAA
                     YNLVQHGITNLCVIGGDGSLTGANIFRSEWGSLLEELVAEGKISETTARTYSHLNIAG
                     LVGSIDNDFCGTDMTIGTDSALHRIMEVIDAITTTAQSHQRTFVLEVMGRHCGYLALV
                     SALASGADWLFIPEAPPEDGWENFMCERLGETRSRGSRLNIIIIAEGAIDRNGKPISS
                     SYVKDLVVQRLGFDTRVTVLGHVQRGGTPSAFDRILSSKMGMEAVMALLEATPDTPAC
                     VVTLSGNQSVRLPLMECVQMTKEVQKAMDDKRFDEATQLRGGSFENNWNIYKLLAHQK
                     PPKEKSNFSLAILNVGAPAAGMNAAVRSAVRTGISHGHTVYVVHDGFEGLAKGQVQEV
                     GWHDVAGWLGRGGSMLGTKRTLPKGQLESIVENIRIYGIHALLVVGGFEAYEGVLQLV
                     EARGRYEELCIVMCVIPATISNNVPGTDFSLGSDTAVNAAMESCDRIKQSASGTKRRV
                     FIVETMGGYCGYLATVTGIAVGADAAYVFEDPFNIHDLKVNVEHMTEKMKTDIQRGLV
                     LRNEKCHDYYTTEFLYNLYSSEGKGVFDCRTNVLGHLQQGGAPTPFDRNYGTKLGVKA
                     MLWLSEKLREVYRKGRVFANAPDSACVIGLKKKAVAFSPVTELKKDTDFEHRMPREQW
                     WLSLRLMLKMLAQYRISMAAYVSGELEHVTRRTLSMDKGF"
     exon            139..212
                     /gene="PFKL"
                     /gene_synonym="ATP-PFK; PFK-B; PFK-L"
                     /inference="alignment:Splign:2.1.0"
     exon            213..290
                     /gene="PFKL"
                     /gene_synonym="ATP-PFK; PFK-B; PFK-L"
                     /inference="alignment:Splign:2.1.0"
     exon            291..480
                     /gene="PFKL"
                     /gene_synonym="ATP-PFK; PFK-B; PFK-L"
                     /inference="alignment:Splign:2.1.0"
     exon            481..646
                     /gene="PFKL"
                     /gene_synonym="ATP-PFK; PFK-B; PFK-L"
                     /inference="alignment:Splign:2.1.0"
     exon            647..691
                     /gene="PFKL"
                     /gene_synonym="ATP-PFK; PFK-B; PFK-L"
                     /inference="alignment:Splign:2.1.0"
     exon            692..800
                     /gene="PFKL"
                     /gene_synonym="ATP-PFK; PFK-B; PFK-L"
                     /inference="alignment:Splign:2.1.0"
     exon            801..896
                     /gene="PFKL"
                     /gene_synonym="ATP-PFK; PFK-B; PFK-L"
                     /inference="alignment:Splign:2.1.0"
     exon            897..989
                     /gene="PFKL"
                     /gene_synonym="ATP-PFK; PFK-B; PFK-L"
                     /inference="alignment:Splign:2.1.0"
     exon            990..1115
                     /gene="PFKL"
                     /gene_synonym="ATP-PFK; PFK-B; PFK-L"
                     /inference="alignment:Splign:2.1.0"
     exon            1116..1180
                     /gene="PFKL"
                     /gene_synonym="ATP-PFK; PFK-B; PFK-L"
                     /inference="alignment:Splign:2.1.0"
     exon            1181..1244
                     /gene="PFKL"
                     /gene_synonym="ATP-PFK; PFK-B; PFK-L"
                     /inference="alignment:Splign:2.1.0"
     exon            1245..1391
                     /gene="PFKL"
                     /gene_synonym="ATP-PFK; PFK-B; PFK-L"
                     /inference="alignment:Splign:2.1.0"
     exon            1392..1462
                     /gene="PFKL"
                     /gene_synonym="ATP-PFK; PFK-B; PFK-L"
                     /inference="alignment:Splign:2.1.0"
     exon            1463..1550
                     /gene="PFKL"
                     /gene_synonym="ATP-PFK; PFK-B; PFK-L"
                     /inference="alignment:Splign:2.1.0"
     exon            1551..1703
                     /gene="PFKL"
                     /gene_synonym="ATP-PFK; PFK-B; PFK-L"
                     /inference="alignment:Splign:2.1.0"
     exon            1704..1868
                     /gene="PFKL"
                     /gene_synonym="ATP-PFK; PFK-B; PFK-L"
                     /inference="alignment:Splign:2.1.0"
     exon            1869..1930
                     /gene="PFKL"
                     /gene_synonym="ATP-PFK; PFK-B; PFK-L"
                     /inference="alignment:Splign:2.1.0"
     exon            1931..2042
                     /gene="PFKL"
                     /gene_synonym="ATP-PFK; PFK-B; PFK-L"
                     /inference="alignment:Splign:2.1.0"
     exon            2043..2142
                     /gene="PFKL"
                     /gene_synonym="ATP-PFK; PFK-B; PFK-L"
                     /inference="alignment:Splign:2.1.0"
     exon            2143..2248
                     /gene="PFKL"
                     /gene_synonym="ATP-PFK; PFK-B; PFK-L"
                     /inference="alignment:Splign:2.1.0"
     exon            2249..2907
                     /gene="PFKL"
                     /gene_synonym="ATP-PFK; PFK-B; PFK-L"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2866..2871
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PFKL"
                     /gene_synonym="ATP-PFK; PFK-B; PFK-L"
                     /note="hexamer: AATAAA"
     polyA_site      2907
                     /gene="PFKL"
                     /gene_synonym="ATP-PFK; PFK-B; PFK-L"
                     /note="major polyA site"
ORIGIN      
        1 gacgcggcgc aggcggcggg agtgcgagct gggcccgtgt ttcggccgcc gccatggccg
       61 cggtggacct ggagaagctg cgggcgtcgg gcgcgggcaa ggccatcggc gtcctgacca
      121 gcggcggcga cgcgcaaggc atgaacgctg ctgtccgggc tgtgacgcgc atgggcattt
      181 atgtgggtgc caaagtcttc ctcatctacg agggctatga gggcctcgtg gagggaggtg
      241 agaacatcaa gcaggccaac tggctgagcg tctccaacat catccagctg ggcggcacta
      301 tcattggcag cgctcgctgc aaggccttta ccaccaggga ggggcgccgg gcagcggcct
      361 acaacctggt ccagcacggc atcaccaacc tgtgcgtcat cggcggggat ggcagcctca
      421 caggtgccaa catcttccgc agcgagtggg gcagcctgct ggaggagctg gtggcggaag
      481 gtaagatctc agagactaca gcccggacct actcgcacct gaacatcgcg ggcctagtgg
      541 gctccatcga taacgacttc tgcggcaccg acatgaccat cggcacggac tcggccctcc
      601 accgcatcat ggaggtcatc gatgccatca ccaccactgc ccagagccac cagaggacct
      661 tcgtgctgga agtgatgggc cggcactgcg ggtacctggc gctggtatct gcactggcct
      721 caggggccga ctggctgttc atccccgagg ctccacccga ggacggctgg gagaacttca
      781 tgtgtgagag gctgggtgag actcggagcc gtgggtcccg actgaacatc atcatcatcg
      841 ctgagggtgc cattgaccgc aacgggaagc ccatctcgtc cagctacgtg aaggacctgg
      901 tggttcagag gctgggcttc gacacccgtg taactgtgct gggccacgtg cagcggggag
      961 ggacgccctc tgccttcgac cggatcctga gcagcaagat gggcatggag gcggtgatgg
     1021 cgctgctgga agccacgcct gacacgccgg cctgcgtggt caccctctcg gggaaccagt
     1081 cagtgcggct gcccctcatg gagtgcgtgc agatgaccaa ggaagtgcag aaagccatgg
     1141 atgacaagag gtttgacgag gccacccagc tccgtggtgg gagcttcgag aacaactgga
     1201 acatttacaa gctcctcgcc caccagaagc cccccaagga gaagtctaac ttctccctgg
     1261 ccatcctgaa tgtgggggcc ccggcggctg gcatgaatgc ggccgtgcgc tcggcggtgc
     1321 ggaccggcat ctcccatgga cacacagtat acgtggtgca cgatggcttc gaaggcctag
     1381 ccaagggtca ggtgcaagaa gtaggctggc acgacgtggc cggctggttg gggcgtggtg
     1441 gctccatgct ggggaccaag aggaccctgc ccaagggcca gctggagtcc attgtggaga
     1501 acatccgcat ctatggtatt cacgccctgc tggtggtcgg tgggtttgag gcctatgaag
     1561 gggtgctgca gctggtggag gctcgcgggc gctacgagga gctctgcatc gtcatgtgtg
     1621 tcatcccagc caccatcagc aacaacgtcc ctggcaccga cttcagcctg ggctccgaca
     1681 ctgctgtaaa tgccgccatg gagagctgtg accgcatcaa acagtctgcc tcggggacca
     1741 agcgccgtgt gttcatcgtg gagaccatgg ggggttactg tggctacctg gccaccgtga
     1801 ctggcattgc tgtgggggcc gacgccgcct acgtcttcga ggaccctttc aacatccacg
     1861 acttaaaggt caacgtggag cacatgacgg agaagatgaa gacagacatt cagaggggcc
     1921 tggtgctgcg gaacgagaag tgccatgact actacaccac ggagttcctg tacaacctgt
     1981 actcatcaga gggcaagggc gtcttcgact gcaggaccaa tgtcctgggc cacctgcagc
     2041 agggtggcgc tccaaccccc tttgaccgga actatgggac caagctgggg gtgaaggcca
     2101 tgctgtggtt gtcggagaag ctgcgcgagg tttaccgcaa gggacgggtg ttcgccaatg
     2161 ccccagactc ggcctgcgtg atcggcctga agaagaaggc ggtggccttc agccccgtca
     2221 ctgagctcaa gaaagacact gatttcgagc accgcatgcc acgggagcag tggtggctga
     2281 gcctgcggct catgctgaag atgctggcac aataccgcat cagtatggcc gcctacgtgt
     2341 caggggagct ggagcacgtg acccgccgca ccctgagcat ggacaagggc ttctgaggcc
     2401 agccatgccc acgcccctcc ccagccccca cccatgccag cgcagcgcca gggctcagat
     2461 ggggcctggg ctgttgtgtc tggagcctgc aggcaggtgg gggctgcgtc cctgctcagc
     2521 ccatcccctg cctctatccc tggccacctg ccaggcctcc ctcgggctgg tgtcttgaga
     2581 ccagcctgcc aggccctcca gcaggaggac agagtgccct ggggcatcca ccttcctgcc
     2641 caggggacgt ggcgctgtcg gtgtttggag gctgctgccc cctggctttg gcgccccatg
     2701 ggccctcagc gtctccccat gctgggctca ctacatgggc cagcccttgc tctacctggc
     2761 cggtaggctg ctggcgccta ggttgtgttg agagggggat gcccctggcc ctgcctcact
     2821 gtgacctgct cctgcccacg tgcagcacct gtcacctttt ctagaaataa aatcaccctg
     2881 actgtggggt gcatcggtct ccggaga
//
