LOCUS       NM_002627               2626 bp    mRNA    linear   PRI 12-AUG-2024
DEFINITION  Homo sapiens phosphofructokinase, platelet (PFKP), transcript
            variant 1, mRNA.
ACCESSION   NM_002627
VERSION     NM_002627.5
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 2626)
  AUTHORS   Liu,W., Ding,Z., Tao,Y., Liu,S., Jiang,M., Yi,F., Wang,Z., Han,Y.,
            Zong,H., Li,D., Zhu,Y., Xie,Z., Sang,S., Chen,X., Miao,M., Chen,X.,
            Lin,W., Zhao,Y., Zheng,G., Zafereo,M., Li,G., Wu,J., Zha,X. and
            Liu,Y.
  TITLE     A positive feedback loop between PFKP and c-Myc drives head and
            neck squamous cell carcinoma progression
  JOURNAL   Mol Cancer 23 (1), 141 (2024)
   PUBMED   38982480
  REMARK    GeneRIF: A positive feedback loop between PFKP and c-Myc drives
            head and neck squamous cell carcinoma progression.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2626)
  AUTHORS   Peng,Z.M., Han,X.J., Wang,T., Li,J.J., Yang,C.X., Tou,F.F. and
            Zhang,Z.
  TITLE     PFKP deubiquitination and stabilization by USP5 activate aerobic
            glycolysis to promote triple-negative breast cancer progression
  JOURNAL   Breast Cancer Res 26 (1), 10 (2024)
   PUBMED   38217030
  REMARK    GeneRIF: PFKP deubiquitination and stabilization by USP5 activate
            aerobic glycolysis to promote triple-negative breast cancer
            progression.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2626)
  AUTHORS   Yang,S., Wu,H., Li,Y., Li,L., Xiang,J., Kang,L., Yang,G. and
            Liang,Z.
  TITLE     Inhibition of PFKP in renal tubular epithelial cell restrains
            TGF-beta induced glycolysis and renal fibrosis
  JOURNAL   Cell Death Dis 14 (12), 816 (2023)
   PUBMED   38086793
  REMARK    GeneRIF: Inhibition of PFKP in renal tubular epithelial cell
            restrains TGF-beta induced glycolysis and renal fibrosis.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2626)
  AUTHORS   Huang,Y., Xiong,C., Wang,C., Deng,J., Zuo,Z., Wu,H., Xiong,J.,
            Wu,X., Lu,H., Hao,Q. and Zhou,X.
  TITLE     p53-responsive CMBL reprograms glucose metabolism and suppresses
            cancer development by destabilizing phosphofructokinase PFKP
  JOURNAL   Cell Rep 42 (11), 113426 (2023)
   PUBMED   37967006
  REMARK    GeneRIF: p53-responsive CMBL reprograms glucose metabolism and
            suppresses cancer development by destabilizing phosphofructokinase
            PFKP.
REFERENCE   5  (bases 1 to 2626)
  AUTHORS   Webb,B.A., Forouhar,F., Szu,F.E., Seetharaman,J., Tong,L. and
            Barber,D.L.
  TITLE     Structures of human phosphofructokinase-1 and atomic basis of
            cancer-associated mutations
  JOURNAL   Nature 523 (7558), 111-114 (2015)
   PUBMED   25985179
REFERENCE   6  (bases 1 to 2626)
  AUTHORS   Moon,J.S., Kim,H.E., Koh,E., Park,S.H., Jin,W.J., Park,B.W.,
            Park,S.W. and Kim,K.S.
  TITLE     Kruppel-like factor 4 (KLF4) activates the transcription of the
            gene for the platelet isoform of phosphofructokinase (PFKP) in
            breast cancer
  JOURNAL   J Biol Chem 286 (27), 23808-23816 (2011)
   PUBMED   21586797
  REMARK    GeneRIF: KLF4 plays a role in maintenance of high glycolytic
            metabolism by transcriptional activation of the PFKP gene in breast
            cancer cells.
REFERENCE   7  (bases 1 to 2626)
  AUTHORS   Morrison,N., Simpson,C., Fothergill-Gilmore,L., Boyd,E. and
            Connor,J.M.
  TITLE     Regional chromosomal assignment of the human platelet
            phosphofructokinase gene to 10p15
  JOURNAL   Hum Genet 89 (1), 105-106 (1992)
   PUBMED   1533608
REFERENCE   8  (bases 1 to 2626)
  AUTHORS   Simpson,C.J. and Fothergill-Gilmore,L.A.
  TITLE     Isolation and sequence of a cDNA encoding human platelet
            phosphofructokinase
  JOURNAL   Biochem Biophys Res Commun 180 (1), 197-203 (1991)
   PUBMED   1834056
REFERENCE   9  (bases 1 to 2626)
  AUTHORS   Meienhofer,M.C., Lagrange,J.L., Cottreau,D., Lenoir,G.,
            Dreyfus,J.C. and Kahn,A.
  TITLE     Phosphofructokinase in human blood cells
  JOURNAL   Blood 54 (2), 389-400 (1979)
   PUBMED   156568
REFERENCE   10 (bases 1 to 2626)
  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 BC029138.1, BC002536.1 and
            AL451164.13.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_002627.4.
            
            Summary: This gene encodes a member of the phosphofructokinase A
            protein family. The encoded enzyme is the platelet-specific isoform
            of phosphofructokinase and plays a key role in glycolysis
            regulation. This gene may play a role in metabolic reprogramming in
            some cancers, including clear cell renal cell carcinomas, and
            cancer of the bladder, breast, and lung. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Sep
            2016].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            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 :: SRR3476690.833132.1,
                                           SRR1803614.266192.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000381125.9/ ENSP00000370517.4
            RefSeq Select criteria :: based on expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-530               BC029138.1         29-558
            531-1328            BC002536.1         519-1316
            1329-1329           AL451164.13        13685-13685
            1330-2536           BC002536.1         1318-2524
            2537-2537           AL451164.13        36970-36970
            2538-2626           BC002536.1         2526-2614
FEATURES             Location/Qualifiers
     source          1..2626
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p15.2"
     gene            1..2626
                     /gene="PFKP"
                     /gene_synonym="ATP-PFK; PFK-C; PFK-P; PFKF"
                     /note="phosphofructokinase, platelet"
                     /db_xref="GeneID:5214"
                     /db_xref="HGNC:HGNC:8878"
                     /db_xref="MIM:171840"
     exon            1..160
                     /gene="PFKP"
                     /gene_synonym="ATP-PFK; PFK-C; PFK-P; PFKF"
                     /inference="alignment:Splign:2.1.0"
     CDS             49..2403
                     /gene="PFKP"
                     /gene_synonym="ATP-PFK; PFK-C; PFK-P; PFKF"
                     /EC_number="2.7.1.11"
                     /note="isoform 1 is encoded by transcript variant 1;
                     6-phosphofructokinase type C; phosphohexokinase;
                     phosphofructokinase 1; phosphofructo-1-kinase isozyme C;
                     6-phosphofructokinase, platelet type; ATP-dependent
                     6-phosphofructokinase, platelet type"
                     /codon_start=1
                     /product="ATP-dependent 6-phosphofructokinase, platelet
                     type isoform 1"
                     /protein_id="NP_002618.1"
                     /db_xref="CCDS:CCDS7059.1"
                     /db_xref="GeneID:5214"
                     /db_xref="HGNC:HGNC:8878"
                     /db_xref="MIM:171840"
                     /translation="MDADDSRAPKGSLRKFLEHLSGAGKAIGVLTSGGDAQGMNAAVR
                     AVVRMGIYVGAKVYFIYEGYQGMVDGGSNIAEADWESVSSILQVGGTIIGSARCQAFR
                     TREGRLKAACNLLQRGITNLCVIGGDGSLTGANLFRKEWSGLLEELARNGQIDKEAVQ
                     KYAYLNVVGMVGSIDNDFCGTDMTIGTDSALHRIIEVVDAIMTTAQSHQRTFVLEVMG
                     RHCGYLALVSALACGADWVFLPESPPEEGWEEQMCVKLSENRARKKRLNIIIVAEGAI
                     DTQNKPITSEKIKELVVTQLGYDTRVTILGHVQRGGTPSAFDRILASRMGVEAVIALL
                     EATPDTPACVVSLNGNHAVRLPLMECVQMTQDVQKAMDERRFQDAVRLRGRSFAGNLN
                     TYKRLAIKLPDDQIPKTNCNVAVINVGAPAAGMNAAVRSAVRVGIADGHRMLAIYDGF
                     DGFAKGQIKEIGWTDVGGWTGQGGSILGTKRVLPGKYLEEIATQMRTHSINALLIIGG
                     FEAYLGLLELSAAREKHEEFCVPMVMVPATVSNNVPGSDFSIGADTALNTITDTCDRI
                     KQSASGTKRRVFIIETMGGYCGYLANMGGLAAGADAAYIFEEPFDIRDLQSNVEHLTE
                     KMKTTIQRGLVLRNESCSENYTTDFIYQLYSEEGKGVFDCRKNVLGHMQQGGAPSPFD
                     RNFGTKISARAMEWITAKLKEARGRGKKFTTDDSICVLGISKRNVIFQPVAELKKQTD
                     FEHRIPKEQWWLKLRPLMKILAKYKASYDVSDSGQLEHVQPWSV"
     exon            161..234
                     /gene="PFKP"
                     /gene_synonym="ATP-PFK; PFK-C; PFK-P; PFKF"
                     /inference="alignment:Splign:2.1.0"
     exon            235..312
                     /gene="PFKP"
                     /gene_synonym="ATP-PFK; PFK-C; PFK-P; PFKF"
                     /inference="alignment:Splign:2.1.0"
     exon            313..502
                     /gene="PFKP"
                     /gene_synonym="ATP-PFK; PFK-C; PFK-P; PFKF"
                     /inference="alignment:Splign:2.1.0"
     exon            503..668
                     /gene="PFKP"
                     /gene_synonym="ATP-PFK; PFK-C; PFK-P; PFKF"
                     /inference="alignment:Splign:2.1.0"
     exon            669..713
                     /gene="PFKP"
                     /gene_synonym="ATP-PFK; PFK-C; PFK-P; PFKF"
                     /inference="alignment:Splign:2.1.0"
     exon            714..822
                     /gene="PFKP"
                     /gene_synonym="ATP-PFK; PFK-C; PFK-P; PFKF"
                     /inference="alignment:Splign:2.1.0"
     exon            823..918
                     /gene="PFKP"
                     /gene_synonym="ATP-PFK; PFK-C; PFK-P; PFKF"
                     /inference="alignment:Splign:2.1.0"
     exon            919..1011
                     /gene="PFKP"
                     /gene_synonym="ATP-PFK; PFK-C; PFK-P; PFKF"
                     /inference="alignment:Splign:2.1.0"
     exon            1012..1137
                     /gene="PFKP"
                     /gene_synonym="ATP-PFK; PFK-C; PFK-P; PFKF"
                     /inference="alignment:Splign:2.1.0"
     exon            1138..1202
                     /gene="PFKP"
                     /gene_synonym="ATP-PFK; PFK-C; PFK-P; PFKF"
                     /inference="alignment:Splign:2.1.0"
     exon            1203..1272
                     /gene="PFKP"
                     /gene_synonym="ATP-PFK; PFK-C; PFK-P; PFKF"
                     /inference="alignment:Splign:2.1.0"
     exon            1273..1419
                     /gene="PFKP"
                     /gene_synonym="ATP-PFK; PFK-C; PFK-P; PFKF"
                     /inference="alignment:Splign:2.1.0"
     exon            1420..1490
                     /gene="PFKP"
                     /gene_synonym="ATP-PFK; PFK-C; PFK-P; PFKF"
                     /inference="alignment:Splign:2.1.0"
     exon            1491..1578
                     /gene="PFKP"
                     /gene_synonym="ATP-PFK; PFK-C; PFK-P; PFKF"
                     /inference="alignment:Splign:2.1.0"
     exon            1579..1731
                     /gene="PFKP"
                     /gene_synonym="ATP-PFK; PFK-C; PFK-P; PFKF"
                     /inference="alignment:Splign:2.1.0"
     exon            1732..1896
                     /gene="PFKP"
                     /gene_synonym="ATP-PFK; PFK-C; PFK-P; PFKF"
                     /inference="alignment:Splign:2.1.0"
     exon            1897..1958
                     /gene="PFKP"
                     /gene_synonym="ATP-PFK; PFK-C; PFK-P; PFKF"
                     /inference="alignment:Splign:2.1.0"
     exon            1959..2070
                     /gene="PFKP"
                     /gene_synonym="ATP-PFK; PFK-C; PFK-P; PFKF"
                     /inference="alignment:Splign:2.1.0"
     exon            2071..2170
                     /gene="PFKP"
                     /gene_synonym="ATP-PFK; PFK-C; PFK-P; PFKF"
                     /inference="alignment:Splign:2.1.0"
     exon            2171..2273
                     /gene="PFKP"
                     /gene_synonym="ATP-PFK; PFK-C; PFK-P; PFKF"
                     /inference="alignment:Splign:2.1.0"
     exon            2274..2626
                     /gene="PFKP"
                     /gene_synonym="ATP-PFK; PFK-C; PFK-P; PFKF"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2602..2607
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PFKP"
                     /gene_synonym="ATP-PFK; PFK-C; PFK-P; PFKF"
                     /note="hexamer: ATTAAA"
     polyA_site      2626
                     /gene="PFKP"
                     /gene_synonym="ATP-PFK; PFK-C; PFK-P; PFKF"
                     /note="major polyA site"
ORIGIN      
        1 attgcctgct gcgcacccgg acgtgcggct cccctcggcc tcctcgccat ggacgcggac
       61 gactcccggg cccccaaggg ctccttgcgg aagttcctgg agcacctctc cggggccggc
      121 aaggccatcg gcgtgctgac cagcggcggg gatgctcaag gtatgaacgc tgccgtccgt
      181 gccgtggtgc gcatgggtat ctacgtgggg gccaaggtgt acttcatcta cgagggctac
      241 cagggcatgg tggacggagg ctcaaacatc gcagaggccg actgggagag tgtctccagc
      301 atcctgcaag tgggcgggac gatcattggc agtgcgcggt gccaggcctt ccgcacgcgg
      361 gaaggccgcc tgaaggctgc ttgcaacctg ctgcagcgcg gcatcaccaa cctgtgtgtg
      421 atcggcgggg acgggagcct caccggggcc aacctcttcc ggaaggagtg gagtgggctg
      481 ctggaggagc tggccaggaa cggccagatc gataaggagg ccgtgcagaa gtacgcctac
      541 ctcaacgtgg tgggcatggt gggctccatc gacaatgatt tctgcggcac cgacatgacc
      601 atcggcacgg actccgccct gcacaggatc atcgaggtcg tcgacgccat catgaccacg
      661 gcccagagcc accagaggac cttcgttctg gaggtgatgg gacgacactg tgggtacctg
      721 gccctggtga gtgccttggc ctgcggtgcg gactgggtgt tccttccaga atctccacca
      781 gaggaaggct gggaggagca gatgtgtgtc aaactctcgg agaaccgtgc ccggaaaaaa
      841 aggctgaata ttattattgt ggctgaagga gcaattgata cccaaaataa acccatcacc
      901 tctgagaaaa tcaaagagct tgtcgtcacg cagctgggct atgacacacg tgtgaccatc
      961 ctcgggcacg tgcagagagg agggacccct tcggcattcg acaggatctt ggccagccgc
     1021 atgggagtgg aggcagtcat cgccttgcta gaggccaccc cggacacccc agcttgcgtc
     1081 gtgtcactga acgggaacca cgccgtgcgc ctgccgctga tggagtgcgt gcagatgact
     1141 caggatgtgc agaaggcgat ggacgagagg agatttcaag atgcggttcg actccgaggg
     1201 aggagctttg cgggcaacct gaacacctac aagcgacttg ccatcaagct gccggatgat
     1261 cagatcccaa agaccaattg caacgtagct gtcatcaacg tgggggcacc cgcggctggg
     1321 atgaacgcag ccgtacgctc agctgtgcgc gtgggcattg ccgacggcca caggatgctc
     1381 gccatctatg atggctttga cggcttcgcc aagggccaga tcaaagaaat cggctggaca
     1441 gatgtcgggg gctggaccgg ccaaggaggc tccattcttg ggacaaaacg cgttctcccg
     1501 gggaagtact tggaagagat cgccacacag atgcgcacgc acagcatcaa cgcgctgctg
     1561 atcatcggtg gattcgaggc ctacctggga ctcctggagc tgtcagccgc ccgggagaag
     1621 cacgaggagt tctgtgtccc catggtcatg gttcccgcta ctgtgtccaa caatgtgccg
     1681 ggttccgatt tcagcatcgg ggcagacacc gccctgaaca ctatcaccga cacctgcgac
     1741 cgcatcaagc agtccgccag cggaaccaag cggcgcgtgt tcatcatcga gaccatgggc
     1801 ggctactgtg gctacctggc caacatgggg gggctcgcgg ccggagctga tgccgcatac
     1861 attttcgaag agcccttcga catcagggat ctgcagtcca acgtggagca cctgacggag
     1921 aaaatgaaga ccaccatcca gagaggcctt gtgctcagaa atgagagctg cagtgaaaac
     1981 tacaccaccg acttcattta ccagctgtat tcagaagagg gcaaaggcgt gtttgactgc
     2041 aggaagaacg tgctgggtca catgcagcag ggtggggcac cctctccatt tgatagaaac
     2101 tttggaacca aaatctctgc cagagctatg gagtggatca ctgcaaaact caaggaggcc
     2161 cggggcagag gaaaaaaatt taccaccgat gattccattt gtgtgctggg aataagcaaa
     2221 agaaacgtta tttttcaacc tgtggcagag ctgaagaagc aaacggattt tgagcacagg
     2281 attcccaaag aacagtggtg gctcaagcta cggcccctca tgaaaatcct ggccaagtac
     2341 aaggccagct atgacgtgtc ggactcaggc cagctggaac atgtgcagcc ctggagtgtc
     2401 tgacccagtc ccgcctgcat gtgcctgcag ccaccgtgga ctgtctgttt ttgtaacact
     2461 taagttattt tatcagcact ttatgcacgt attattgaca ttaataccta atcggcgagt
     2521 gcccatctgc cccacctgct ccagtgcgtg ctgtctgtgg agtgtgtctc atgctttcag
     2581 atgtgcatat gagcagaatt aattaaacat ttgcctatga ctccaa
//
