LOCUS       NM_002625               2039 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1
            (PFKFB1), transcript variant 1, mRNA.
ACCESSION   NM_002625
VERSION     NM_002625.4
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 2039)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 2039)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2039)
  AUTHORS   Tiazhka,O.V., Minchenko,D.O., Davydov,V.V., Moliavko,O.S.,
            Budreiko,O.A., Kulieshova,D.K. and Minchenko,O.H.
  TITLE     [EXPRESSION OF GENES, WHICH CONTROL GLUCOSE METABOLISM, IN BLOOD
            CELLS OF THE OBESE BOYS WITH INSULIN RESISTANCE]
  JOURNAL   Lik Sprava (3-4), 66-71 (2015)
   PUBMED   26827442
  REMARK    GeneRIF: Insulin resistance in obese boys leads to up-regulation of
            INSIG2 gene expression as well as to down-regulation of PFKFB1,
            PFKFB3, and HK2 genes in the blood cells as compared to obese
            patients with normal insulin sensitivity.
REFERENCE   4  (bases 1 to 2039)
  AUTHORS   Hogan,K.J., Burmester,J.K., Caldwell,M.D., Hogan,Q.H.,
            Coursin,D.B., Green,D.N., Selzer,R.M., Broderick,T.P., Rusy,D.A.,
            Poroli,M., Lutz,A.L., Sanders,A.M., Oldenburg,M.C., Koelbl,J.A., de
            Arruda-Indig,M., Halsey,J.L., Day,S.P. and Domanico,M.J.
  TITLE     Perioperative genomic profiles using structure-specific
            oligonucleotide probes
  JOURNAL   Clin Med Res 7 (3), 69-84 (2009)
   PUBMED   19474452
  REMARK    GeneRIF: Observational study of genetic testing. (HuGE Navigator)
REFERENCE   5  (bases 1 to 2039)
  AUTHORS   Ross,M.T., Grafham,D.V., Coffey,A.J., Scherer,S., McLay,K.,
            Muzny,D., Platzer,M., Howell,G.R., Burrows,C., Bird,C.P.,
            Frankish,A., Lovell,F.L., Howe,K.L., Ashurst,J.L., Fulton,R.S.,
            Sudbrak,R., Wen,G., Jones,M.C., Hurles,M.E., Andrews,T.D.,
            Scott,C.E., Searle,S., Ramser,J., Whittaker,A., Deadman,R.,
            Carter,N.P., Hunt,S.E., Chen,R., Cree,A., Gunaratne,P., Havlak,P.,
            Hodgson,A., Metzker,M.L., Richards,S., Scott,G., Steffen,D.,
            Sodergren,E., Wheeler,D.A., Worley,K.C., Ainscough,R.,
            Ambrose,K.D., Ansari-Lari,M.A., Aradhya,S., Ashwell,R.I.,
            Babbage,A.K., Bagguley,C.L., Ballabio,A., Banerjee,R., Barker,G.E.,
            Barlow,K.F., Barrett,I.P., Bates,K.N., Beare,D.M., Beasley,H.,
            Beasley,O., Beck,A., Bethel,G., Blechschmidt,K., Brady,N.,
            Bray-Allen,S., Bridgeman,A.M., Brown,A.J., Brown,M.J., Bonnin,D.,
            Bruford,E.A., Buhay,C., Burch,P., Burford,D., Burgess,J.,
            Burrill,W., Burton,J., Bye,J.M., Carder,C., Carrel,L., Chako,J.,
            Chapman,J.C., Chavez,D., Chen,E., Chen,G., Chen,Y., Chen,Z.,
            Chinault,C., Ciccodicola,A., Clark,S.Y., Clarke,G., Clee,C.M.,
            Clegg,S., Clerc-Blankenburg,K., Clifford,K., Cobley,V., Cole,C.G.,
            Conquer,J.S., Corby,N., Connor,R.E., David,R., Davies,J., Davis,C.,
            Davis,J., Delgado,O., Deshazo,D., Dhami,P., Ding,Y., Dinh,H.,
            Dodsworth,S., Draper,H., Dugan-Rocha,S., Dunham,A., Dunn,M.,
            Durbin,K.J., Dutta,I., Eades,T., Ellwood,M., Emery-Cohen,A.,
            Errington,H., Evans,K.L., Faulkner,L., Francis,F., Frankland,J.,
            Fraser,A.E., Galgoczy,P., Gilbert,J., Gill,R., Glockner,G.,
            Gregory,S.G., Gribble,S., Griffiths,C., Grocock,R., Gu,Y.,
            Gwilliam,R., Hamilton,C., Hart,E.A., Hawes,A., Heath,P.D.,
            Heitmann,K., Hennig,S., Hernandez,J., Hinzmann,B., Ho,S., Hoffs,M.,
            Howden,P.J., Huckle,E.J., Hume,J., Hunt,P.J., Hunt,A.R.,
            Isherwood,J., Jacob,L., Johnson,D., Jones,S., de Jong,P.J.,
            Joseph,S.S., Keenan,S., Kelly,S., Kershaw,J.K., Khan,Z.,
            Kioschis,P., Klages,S., Knights,A.J., Kosiura,A., Kovar-Smith,C.,
            Laird,G.K., Langford,C., Lawlor,S., Leversha,M., Lewis,L., Liu,W.,
            Lloyd,C., Lloyd,D.M., Loulseged,H., Loveland,J.E., Lovell,J.D.,
            Lozado,R., Lu,J., Lyne,R., Ma,J., Maheshwari,M., Matthews,L.H.,
            McDowall,J., McLaren,S., McMurray,A., Meidl,P., Meitinger,T.,
            Milne,S., Miner,G., Mistry,S.L., Morgan,M., Morris,S., Muller,I.,
            Mullikin,J.C., Nguyen,N., Nordsiek,G., Nyakatura,G., O'Dell,C.N.,
            Okwuonu,G., Palmer,S., Pandian,R., Parker,D., Parrish,J.,
            Pasternak,S., Patel,D., Pearce,A.V., Pearson,D.M., Pelan,S.E.,
            Perez,L., Porter,K.M., Ramsey,Y., Reichwald,K., Rhodes,S.,
            Ridler,K.A., Schlessinger,D., Schueler,M.G., Sehra,H.K.,
            Shaw-Smith,C., Shen,H., Sheridan,E.M., Shownkeen,R., Skuce,C.D.,
            Smith,M.L., Sotheran,E.C., Steingruber,H.E., Steward,C.A.,
            Storey,R., Swann,R.M., Swarbreck,D., Tabor,P.E., Taudien,S.,
            Taylor,T., Teague,B., Thomas,K., Thorpe,A., Timms,K., Tracey,A.,
            Trevanion,S., Tromans,A.C., d'Urso,M., Verduzco,D., Villasana,D.,
            Waldron,L., Wall,M., Wang,Q., Warren,J., Warry,G.L., Wei,X.,
            West,A., Whitehead,S.L., Whiteley,M.N., Wilkinson,J.E.,
            Willey,D.L., Williams,G., Williams,L., Williamson,A.,
            Williamson,H., Wilming,L., Woodmansey,R.L., Wray,P.W., Yen,J.,
            Zhang,J., Zhou,J., Zoghbi,H., Zorilla,S., Buck,D., Reinhardt,R.,
            Poustka,A., Rosenthal,A., Lehrach,H., Meindl,A., Minx,P.J.,
            Hillier,L.W., Willard,H.F., Wilson,R.K., Waterston,R.H., Rice,C.M.,
            Vaudin,M., Coulson,A., Nelson,D.L., Weinstock,G., Sulston,J.E.,
            Durbin,R., Hubbard,T., Gibbs,R.A., Beck,S., Rogers,J. and
            Bentley,D.R.
  TITLE     The DNA sequence of the human X chromosome
  JOURNAL   Nature 434 (7031), 325-337 (2005)
   PUBMED   15772651
REFERENCE   6  (bases 1 to 2039)
  AUTHORS   Batra,R.S., Hatchwell,E., Rider,S., Brown,R., Brown,G.K. and
            Craig,I.W.
  TITLE     Localization of human liver
            6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase (PFKFB1)
            within a YAC contig in Xp11.21
  JOURNAL   Genomics 40 (2), 358-361 (1997)
   PUBMED   9119406
REFERENCE   7  (bases 1 to 2039)
  AUTHORS   Pilkis,S.J., Claus,T.H., Kurland,I.J. and Lange,A.J.
  TITLE     6-Phosphofructo-2-kinase/fructose-2,6-bisphosphatase: a metabolic
            signaling enzyme
  JOURNAL   Annu Rev Biochem 64, 799-835 (1995)
   PUBMED   7574501
  REMARK    Review article
REFERENCE   8  (bases 1 to 2039)
  AUTHORS   Lange,A.J. and Pilkis,S.J.
  TITLE     Sequence of human liver
            6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase
  JOURNAL   Nucleic Acids Res 18 (12), 3652 (1990)
   PUBMED   2163524
REFERENCE   9  (bases 1 to 2039)
  AUTHORS   Marker,A.J., Colosia,A.D., Tauler,A., Solomon,D.H., Cayre,Y.,
            Lange,A.J., el-Maghrabi,M.R. and Pilkis,S.J.
  TITLE     Glucocorticoid regulation of hepatic
            6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase gene
            expression
  JOURNAL   J Biol Chem 264 (12), 7000-7004 (1989)
   PUBMED   2540168
REFERENCE   10 (bases 1 to 2039)
  AUTHORS   Algaier,J. and Uyeda,K.
  TITLE     Molecular cloning, sequence analysis, and expression of a human
            liver cDNA coding for
            fructose-6-P,2-kinase:fructose-2,6-bisphosphatase
  JOURNAL   Biochem Biophys Res Commun 153 (1), 328-333 (1988)
   PUBMED   2837207
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL020991.1, X52638.1,
            AK314089.1, AL703826.1 and AL049732.11.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_002625.3.
            
            Summary: This gene encodes a member of the family of bifunctional
            6-phosphofructo-2-kinase:fructose-2,6-biphosphatase enzymes. The
            enzyme forms a homodimer that catalyzes both the synthesis and
            degradation of fructose-2,6-biphosphate using independent catalytic
            domains. Fructose-2,6-biphosphate is an activator of the glycolysis
            pathway and an inhibitor of the gluconeogenesis pathway.
            Consequently, regulating fructose-2,6-biphosphate levels through
            the activity of this enzyme is thought to regulate glucose
            homeostasis. Multiple alternatively spliced transcript variants
            have been found for this gene. [provided by RefSeq, Nov 2012].
            
            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 :: SRR5189664.85930.1, X52638.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            MANE Ensembl match               :: ENST00000375006.8/
                                                ENSP00000364145.3
            RefSeq Select criteria           :: based on conservation,
                                                expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-110               AL020991.1         56480-56589
            111-115             X52638.1           9-13
            116-795             AK314089.1         222-901
            796-1094            X52638.1           694-992
            1095-1597           AK314089.1         1201-1703
            1598-1843           X52638.1           1496-1741
            1844-1866           AL703826.1         401-423
            1867-2039           AL049732.11        99482-99654         c
FEATURES             Location/Qualifiers
     source          1..2039
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.21"
     gene            1..2039
                     /gene="PFKFB1"
                     /gene_synonym="F6PK; HL2K; PFRX"
                     /note="6-phosphofructo-2-kinase/fructose-2,6-biphosphatase
                     1"
                     /db_xref="GeneID:5207"
                     /db_xref="HGNC:HGNC:8872"
                     /db_xref="MIM:311790"
     exon            1..278
                     /gene="PFKFB1"
                     /gene_synonym="F6PK; HL2K; PFRX"
                     /inference="alignment:Splign:2.1.0"
     exon            279..404
                     /gene="PFKFB1"
                     /gene_synonym="F6PK; HL2K; PFRX"
                     /inference="alignment:Splign:2.1.0"
     exon            405..498
                     /gene="PFKFB1"
                     /gene_synonym="F6PK; HL2K; PFRX"
                     /inference="alignment:Splign:2.1.0"
     exon            499..565
                     /gene="PFKFB1"
                     /gene_synonym="F6PK; HL2K; PFRX"
                     /inference="alignment:Splign:2.1.0"
     exon            566..640
                     /gene="PFKFB1"
                     /gene_synonym="F6PK; HL2K; PFRX"
                     /inference="alignment:Splign:2.1.0"
     exon            641..697
                     /gene="PFKFB1"
                     /gene_synonym="F6PK; HL2K; PFRX"
                     /inference="alignment:Splign:2.1.0"
     exon            698..819
                     /gene="PFKFB1"
                     /gene_synonym="F6PK; HL2K; PFRX"
                     /inference="alignment:Splign:2.1.0"
     exon            820..1027
                     /gene="PFKFB1"
                     /gene_synonym="F6PK; HL2K; PFRX"
                     /inference="alignment:Splign:2.1.0"
     exon            1028..1174
                     /gene="PFKFB1"
                     /gene_synonym="F6PK; HL2K; PFRX"
                     /inference="alignment:Splign:2.1.0"
     exon            1175..1279
                     /gene="PFKFB1"
                     /gene_synonym="F6PK; HL2K; PFRX"
                     /inference="alignment:Splign:2.1.0"
     exon            1280..1409
                     /gene="PFKFB1"
                     /gene_synonym="F6PK; HL2K; PFRX"
                     /inference="alignment:Splign:2.1.0"
     exon            1410..1472
                     /gene="PFKFB1"
                     /gene_synonym="F6PK; HL2K; PFRX"
                     /inference="alignment:Splign:2.1.0"
     exon            1473..1537
                     /gene="PFKFB1"
                     /gene_synonym="F6PK; HL2K; PFRX"
                     /inference="alignment:Splign:2.1.0"
     exon            1538..2039
                     /gene="PFKFB1"
                     /gene_synonym="F6PK; HL2K; PFRX"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1818..1823
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PFKFB1"
                     /gene_synonym="F6PK; HL2K; PFRX"
                     /note="hexamer: AATAAA"
     polyA_site      1839
                     /gene="PFKFB1"
                     /gene_synonym="F6PK; HL2K; PFRX"
                     /note="major polyA site"
ORIGIN      
        1 agaggaaaga agagagggga ctgaagacag actttgagag ggctcagaaa cccagtacac
       61 cccctgtccc agccctgtcc acctgctgct gtggccacag cgagagaaaa gacagctagt
      121 aagataggaa gtgaggccag gtaccttgtg ggcagtgatg tcattcggtg cgactcctaa
      181 gatgtctcca gagatgggag agctcaccca aaccaggttg cagaagatct ggattccaca
      241 cagcagcggc agcagcaggc tgcaacggag aaggggctca tccatacccc agtttaccaa
      301 ttcccccaca atggtgatca tggtgggttt accagctcga ggcaagacct atatctccac
      361 aaagctcaca cgatatctca actggatagg aacaccaact aaagtgttta atttaggcca
      421 gtatcgacga gaggcagtga gctacaagaa ctatgaattc tttcttccag acaacatgga
      481 agccctgcaa atcaggaagc agtgcgccct ggcagccctg aaggatgttc acaactatct
      541 cagccatgag gaaggtcatg ttgcggtttt tgatgccacc aacactacca gagaacgacg
      601 gtcactgatc ctgcagtttg caaaagaaca tggttacaag gtgtttttca ttgagtccat
      661 ttgtaatgac cctggcataa ttgcagaaaa catcaggcaa gtgaaacttg gcagccctga
      721 ttatatagac tgtgaccggg aaaaggttct ggaagacttt ctaaagagaa ttgagtgcta
      781 tgaggtcaac taccaaccct tggatgagga actggacagc cacctgtcct acatcaagat
      841 cttcgacgtg ggcacacgct acatggtgaa ccgagtgcag gatcacatcc agagccgcac
      901 agtctactac ctcatgaata tccatgtcac acctcgctcc atctaccttt gccgacatgg
      961 cgagagtgaa ctcaacatca gaggccgcat cggaggtgac tctggcctct cagttcgcgg
     1021 caagcagtat gcctatgccc tggccaactt cattcagtcc cagggcatca gctccctgaa
     1081 ggtgtggacc agtcacatga agaggaccat ccagacagct gaggccctgg gtgtccccta
     1141 tgagcagtgg aaggccctga atgagattga tgcgggtgtc tgtgaggaga tgacctatga
     1201 agaaatccag gaacattacc ctgaagaatt tgcactgcga gaccaagata aatatcgcta
     1261 ccgctatccc aagggagagt cctatgagga tctggttcag cgtctggagc cagtgataat
     1321 ggagctagaa cgacaggaga atgtactggt gatctgccac caggctgtca tgcggtgcct
     1381 cctggcctat ttcctggata aaagttcaga tgagcttcca tatctcaagt gccctctgca
     1441 cacagtgctc aaactcactc ctgtggctta tggctgcaaa gtggaatcca tctacctgaa
     1501 tgtggaggcc gtgaacacac accgggagaa gcctgagaat gtggacatca cccgggaacc
     1561 tgaggaagcc ctggatactg tcccagccca ctactgagcc ctttccaaga agtcaaactg
     1621 cctgtgtcct catcgccttc cacctttagg aaatgctatc tttgctcttc tcctactctg
     1681 ccttggcctc actgaggcac cccacttcca gtgaagaagt cctccgcaac tcccaaacaa
     1741 gcctcgcttg ctggccgcaa ccaaggagct atctagctct ggaggaaact ttctttctta
     1801 attcctattc tctgacgaat aaagacttac tgcctacaag aggagaggag gaggtcatgg
     1861 cgaggctttt ccagttgttc tcaaggtact gaccctaatc ctgacccagc tctgctgctg
     1921 tgagggcatg gaatgggtga ggatttcctg gagggaaaag ttctacagta gcacctccaa
     1981 agatggggga gaagataggt gcctgtgagt tcctgtgggc cttgttccag caaggtggc
//
