LOCUS       NM_000289               3090 bp    mRNA    linear   PRI 03-APR-2024
DEFINITION  Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant
            4, mRNA.
ACCESSION   NM_000289
VERSION     NM_000289.6
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 3090)
  AUTHORS   Voronkova,M.A., Hansen,H.L., Cooper,M.P., Miller,J., Sukumar,N.,
            Geldenhuys,W.J., Robart,A.R. and Webb,B.A.
  TITLE     Cancer-associated somatic mutations in human phosphofructokinase-1
            reveal a critical electrostatic interaction for allosteric
            regulation of enzyme activity
  JOURNAL   Biochem J 480 (17), 1411-1427 (2023)
   PUBMED   37622331
  REMARK    GeneRIF: Cancer-associated somatic mutations in human
            phosphofructokinase-1 reveal a critical electrostatic interaction
            for allosteric regulation of enzyme activity.
REFERENCE   2  (bases 1 to 3090)
  AUTHORS   Kobayashi,H., Takase,S., Nishimura,H., Matsumoto,K., Harada,H. and
            Yoshida,M.
  TITLE     RNAi screening reveals a synthetic chemical-genetic interaction
            between ATP synthase and PFK1 in cancer cells
  JOURNAL   Cancer Sci 114 (4), 1663-1671 (2023)
   PUBMED   36601784
  REMARK    GeneRIF: RNAi screening reveals a synthetic chemical-genetic
            interaction between ATP synthase and PFK1 in cancer cells.
REFERENCE   3  (bases 1 to 3090)
  AUTHORS   Xu,S., Cheuk,Y.C., Jia,Y., Chen,T., Chen,J., Luo,Y., Cao,Y.,
            Guo,J., Dong,L., Zhang,Y., Shi,Y. and Rong,R.
  TITLE     Bone marrow mesenchymal stem cell-derived exosomal miR-21a-5p
            alleviates renal fibrosis by attenuating glycolysis by targeting
            PFKM
  JOURNAL   Cell Death Dis 13 (10), 876 (2022)
   PUBMED   36253358
  REMARK    GeneRIF: Bone marrow mesenchymal stem cell-derived exosomal
            miR-21a-5p alleviates renal fibrosis by attenuating glycolysis by
            targeting PFKM.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3090)
  AUTHORS   Yamada,S., Nakajima,H. and Kuehn,M.R.
  TITLE     Novel testis- and embryo-specific isoforms of the
            phosphofructokinase-1 muscle type gene
  JOURNAL   Biochem Biophys Res Commun 316 (2), 580-587 (2004)
   PUBMED   15020257
  REMARK    GeneRIF: Identification of novel PFK-M transcripts in the testis
            and embryo.
REFERENCE   5  (bases 1 to 3090)
  AUTHORS   Howard,T.D., Akots,G. and Bowden,D.W.
  TITLE     Physical and genetic mapping of the muscle phosphofructokinase gene
            (PFKM): reassignment to human chromosome 12q
  JOURNAL   Genomics 34 (1), 122-127 (1996)
   PUBMED   8661033
REFERENCE   6  (bases 1 to 3090)
  AUTHORS   Vasconcelos,O., Sivakumar,K., Dalakas,M.C., Quezado,M., Nagle,J.,
            Leon-Monzon,M., Dubnick,M., Gajdusek,D.C. and Goldfarb,L.G.
  TITLE     Nonsense mutation in the phosphofructokinase muscle subunit gene
            associated with retention of intron 10 in one of the isolated
            transcripts in Ashkenazi Jewish patients with Tarui disease
  JOURNAL   Proc Natl Acad Sci U S A 92 (22), 10322-10326 (1995)
   PUBMED   7479776
REFERENCE   7  (bases 1 to 3090)
  AUTHORS   Yamasaki,T., Nakajima,H., Kono,N., Hotta,K., Yamada,K., Imai,E.,
            Kuwajima,M., Noguchi,T., Tanaka,T. and Tarui,S.
  TITLE     Structure of the entire human muscle phosphofructokinase-encoding
            gene: a two-promoter system
  JOURNAL   Gene 104 (2), 277-282 (1991)
   PUBMED   1833270
REFERENCE   8  (bases 1 to 3090)
  AUTHORS   Sharma,P.M., Reddy,G.R., Babior,B.M. and McLachlan,A.
  TITLE     Alternative splicing of the transcript encoding the human muscle
            isoenzyme of phosphofructokinase
  JOURNAL   J Biol Chem 265 (16), 9006-9010 (1990)
   PUBMED   2140567
REFERENCE   9  (bases 1 to 3090)
  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
REFERENCE   10 (bases 1 to 3090)
  AUTHORS   Kahn,A., Etiemble,J., Meienhofer,M.C. and Bovin,P.
  TITLE     Erythrocyte phosphofructokinase deficiency associated with an
            unstable variant of muscle phosphofructokinase
  JOURNAL   Clin Chim Acta 61 (3), 415-419 (1975)
   PUBMED   125160
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA525437.1, BC021203.2,
            BC000534.2 and BU683561.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jul 6, 2018 this sequence version replaced NM_000289.5.
            
            Summary: Three phosphofructokinase isozymes exist in humans:
            muscle, liver and platelet. These isozymes function as subunits of
            the mammalian tetramer phosphofructokinase, which catalyzes the
            phosphorylation of fructose-6-phosphate to
            fructose-1,6-bisphosphate. Tetramer composition varies depending on
            tissue type. This gene encodes the muscle-type isozyme. Mutations
            in this gene have been associated with glycogen storage disease
            type VII, also known as Tarui disease. Alternatively spliced
            transcript variants have been described.[provided by RefSeq, Nov
            2009].
            
            Transcript Variant: This variant (4, also known as type C) differs
            in the 5' UTR, lacks a portion of the 5' coding region, and
            initiates translation at a downstream start codon, compared to
            variant 1. The encoded isoform (2) is shorter than isoform 1.
            Variants 2, 3, 4, 12, 13, and 14 encode the same isoform (2).
            
            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 :: SRR1660807.163458.1,
                                           SRR1660805.57430.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000359794.11/ ENSP00000352842.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-14                DA525437.1         135-148
            15-2384             BC021203.2         1-2370
            2385-2414           BC000534.2         2349-2378
            2415-3090           BU683561.1         19-694              c
FEATURES             Location/Qualifiers
     source          1..3090
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.11"
     gene            1..3090
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /note="phosphofructokinase, muscle"
                     /db_xref="GeneID:5213"
                     /db_xref="HGNC:HGNC:8877"
                     /db_xref="MIM:610681"
     exon            1..43
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /inference="alignment:Splign:2.1.0"
     exon            44..136
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /inference="alignment:Splign:2.1.0"
     CDS             52..2394
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /EC_number="2.7.1.11"
                     /note="isoform 2 is encoded by transcript variant 4;
                     phosphofructokinase, polypeptide X; 6-phosphofructokinase,
                     muscle type; phosphofructo-1-kinase isozyme A;
                     phosphohexokinase; 6-phosphofructo-1-kinase;
                     phosphofructokinase 1; 6-phosphofructokinase type A;
                     ATP-dependent 6-phosphofructokinase, muscle type;
                     phosphofructokinase-M; protein phosphatase 1, regulatory
                     subunit 122"
                     /codon_start=1
                     /product="ATP-dependent 6-phosphofructokinase, muscle type
                     isoform 2"
                     /protein_id="NP_000280.1"
                     /db_xref="CCDS:CCDS8760.1"
                     /db_xref="GeneID:5213"
                     /db_xref="HGNC:HGNC:8877"
                     /db_xref="MIM:610681"
                     /translation="MTHEEHHAAKTLGIGKAIAVLTSGGDAQGMNAAVRAVVRVGIFT
                     GARVFFVHEGYQGLVDGGDHIKEATWESVSMMLQLGGTVIGSARCKDFREREGRLRAA
                     YNLVKRGITNLCVIGGDGSLTGADTFRSEWSDLLSDLQKAGKITDEEATKSSYLNIVG
                     LVGSIDNDFCGTDMTIGTDSALHRIMEIVDAITTTAQSHQRTFVLEVMGRHCGYLALV
                     TSLSCGADWVFIPECPPDDDWEEHLCRRLSETRTRGSRLNIIIVAEGAIDKNGKPITS
                     EDIKNLVVKRLGYDTRVTVLGHVQRGGTPSAFDRILGSRMGVEAVMALLEGTPDTPAC
                     VVSLSGNQAVRLPLMECVQVTKDVTKAMDEKKFDEALKLRGRSFMNNWEVYKLLAHVR
                     PPVSKSGSHTVAVMNVGAPAAGMNAAVRSTVRIGLIQGNRVLVVHDGFEGLAKGQIEE
                     AGWSYVGGWTGQGGSKLGTKRTLPKKSFEQISANITKFNIQGLVIIGGFEAYTGGLEL
                     MEGRKQFDELCIPFVVIPATVSNNVPGSDFSVGADTALNTICTTCDRIKQSAAGTKRR
                     VFIIETMGGYCGYLATMAGLAAGADAAYIFEEPFTIRDLQANVEHLVQKMKTTVKRGL
                     VLRNEKCNENYTTDFIFNLYSEEGKGIFDSRKNVLGHMQQGGSPTPFDRNFATKMGAK
                     AMNWMSGKIKESYRNGRIFANTPDSGCVLGMRKRALVFQPVAELKDQTDFEHRIPKEQ
                     WWLKLRPILKILAKYEIDLDTSDHAHLEHITRKRSGEAAV"
     exon            137..210
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /inference="alignment:Splign:2.1.0"
     exon            211..288
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /inference="alignment:Splign:2.1.0"
     exon            289..478
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /inference="alignment:Splign:2.1.0"
     exon            479..644
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /inference="alignment:Splign:2.1.0"
     exon            645..689
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /inference="alignment:Splign:2.1.0"
     exon            690..798
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /inference="alignment:Splign:2.1.0"
     exon            799..894
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /inference="alignment:Splign:2.1.0"
     exon            895..987
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /inference="alignment:Splign:2.1.0"
     exon            988..1113
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /inference="alignment:Splign:2.1.0"
     exon            1114..1178
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /inference="alignment:Splign:2.1.0"
     exon            1179..1242
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /inference="alignment:Splign:2.1.0"
     exon            1243..1392
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /inference="alignment:Splign:2.1.0"
     exon            1393..1463
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /inference="alignment:Splign:2.1.0"
     exon            1464..1551
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /inference="alignment:Splign:2.1.0"
     exon            1552..1704
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /inference="alignment:Splign:2.1.0"
     exon            1705..1869
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /inference="alignment:Splign:2.1.0"
     exon            1870..1931
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /inference="alignment:Splign:2.1.0"
     exon            1932..2043
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /inference="alignment:Splign:2.1.0"
     exon            2044..2143
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /inference="alignment:Splign:2.1.0"
     exon            2144..2249
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /inference="alignment:Splign:2.1.0"
     exon            2250..3090
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2767..2772
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /note="hexamer: AATAAA"
     polyA_site      2790
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /note="major polyA site"
     regulatory      3071..3076
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
                     /note="hexamer: AATAAA"
     polyA_site      3090
                     /gene="PFKM"
                     /gene_synonym="ATP-PFK; GSD7; PFK-1; PFK-A; PFK1; PFKA;
                     PFKX; PPP1R122"
ORIGIN      
        1 aatctgcaag aaagcagcgg cggaggagag ctaagactaa aagagtggat catgacccat
       61 gaagagcacc atgcagccaa aaccctgggg attggcaaag ccattgctgt cttaacctct
      121 ggtggagatg cccaaggtat gaatgctgct gtcagggctg tggttcgagt tggtatcttc
      181 accggtgccc gtgtcttctt tgtccatgag ggttatcaag gcctggtgga tggtggagat
      241 cacatcaagg aagccacctg ggagagcgtt tcgatgatgc ttcagctggg aggcacggtg
      301 attggaagtg cccggtgcaa ggactttcgg gaacgagaag gacgactccg agctgcctac
      361 aacctggtga agcgtgggat caccaatctc tgtgtcattg ggggtgatgg cagcctcact
      421 ggggctgaca ccttccgttc tgagtggagt gacttgttga gtgacctcca gaaagcaggt
      481 aagatcacag atgaggaggc tacgaagtcc agctacctga acattgtggg cctggttggg
      541 tcaattgaca atgacttctg tggcaccgat atgaccattg gcactgactc tgccctgcat
      601 cggatcatgg aaattgtaga tgccatcact accactgccc agagccacca gaggacattt
      661 gtgttagaag taatgggccg ccactgtgga tacctggccc ttgtcacctc tctgtcctgt
      721 ggggccgact gggtttttat tcctgaatgt ccaccagatg acgactggga ggaacacctt
      781 tgtcgccgac tcagcgagac aaggacccgt ggttctcgtc tcaacatcat cattgtggct
      841 gagggtgcaa ttgacaagaa tggaaaacca atcacctcag aagacatcaa gaatctggtg
      901 gttaagcgtc tgggatatga cacccgggtt actgtcttgg ggcatgtgca gaggggtggg
      961 acgccatcag cctttgacag aattctgggc agcaggatgg gtgtggaagc agtgatggca
     1021 cttttggagg ggaccccaga taccccagcc tgtgtagtga gcctctctgg taaccaggct
     1081 gtgcgcctgc ccctcatgga atgtgtccag gtgaccaaag atgtgaccaa ggccatggat
     1141 gagaagaaat ttgacgaagc cctgaagctg agaggccgga gcttcatgaa caactgggag
     1201 gtgtacaagc ttctagctca tgtcagaccc ccggtatcta agagtggttc gcacacagtg
     1261 gctgtgatga acgtgggggc tccggctgca ggcatgaatg ctgctgttcg ctccactgtg
     1321 aggattggcc ttatccaggg caaccgagtg ctcgttgtcc atgatggttt cgagggcctg
     1381 gccaaggggc agatagagga agctggctgg agctatgttg ggggctggac tggccaaggt
     1441 ggctctaaac ttgggactaa aaggactcta cccaagaaga gctttgaaca gatcagtgcc
     1501 aatataacta agtttaacat tcagggcctt gtcatcattg ggggctttga ggcttacaca
     1561 gggggcctgg aactgatgga gggcaggaag cagtttgatg agctctgcat cccatttgtg
     1621 gtcattcctg ctacagtctc caacaatgtc cctggctcag acttcagcgt tggggctgac
     1681 acagcactca atactatctg cacaacctgt gaccgcatca agcagtcagc agctggcacc
     1741 aagcgtcggg tgtttatcat tgagactatg ggtggctact gtggctacct ggctaccatg
     1801 gctggactgg cagctggggc cgatgctgcc tacatttttg aggagccctt caccattcga
     1861 gacctgcagg caaatgttga acatctggtg caaaagatga aaacaactgt gaaaaggggc
     1921 ttggtgttaa ggaatgaaaa gtgcaatgag aactatacca ctgacttcat tttcaacctg
     1981 tactctgagg aggggaaggg catcttcgac agcaggaaga atgtgcttgg tcacatgcag
     2041 cagggtggga gcccaacccc atttgatagg aattttgcca ctaagatggg cgccaaggct
     2101 atgaactgga tgtctgggaa aatcaaagag agttaccgta atgggcggat ctttgccaat
     2161 actccagatt cgggctgtgt tctggggatg cgtaagaggg ctctggtctt ccaaccagtg
     2221 gctgagctga aggaccagac agattttgag catcgaatcc ccaaggaaca gtggtggctg
     2281 aaactgaggc ccatcctcaa aatcctagcc aagtacgaga ttgacttgga cacttcagac
     2341 catgcccacc tggagcacat cacccggaag cggtccgggg aagctgccgt ctaaacctct
     2401 ctggagtgag gggaatagat tacctgatca tggtcagctc acaccctaat aagtccacat
     2461 cttctcagtg ttttagctgt ttttttcatt aggtttcctt ttattctgta ccttgcagcc
     2521 atgaccagtt ctggccagga gctggaggag caggcagtgg gtgggagctc cttttaggta
     2581 gaatttaaca tgacttctgc cccagcttta tctgtcacac aaggctgggc acctctagtg
     2641 ctactgctag atatcactta ctcagttaga attttcctaa aaataagctt tatttatttc
     2701 tttgtgataa caaagagtct tggttcctct actactttta ctacagtgac aaattgtaac
     2761 tacactaata aatgccaact ggtcactgtg cttttgcttc tcctgttatc atcttcctaa
     2821 gtggaatgta atactgtcag ccccatgtat cagacacttg tctgatgaag cagtaaagac
     2881 gttaagggta tcacaggggg tggaggaagg gattatctct agtacactac ttgctggctg
     2941 tctgaaaaat tgtcactgcc aaactctaaa aacagttcta aatagtgact gagaaggttt
     3001 gttgctggag tcagggaata aggcagccaa atactctttg cacagttctt tagtgggaag
     3061 agaaattaac aataaatatc aagcactgtg
//
