LOCUS       NM_000290                837 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens phosphoglycerate mutase 2 (PGAM2), mRNA.
ACCESSION   NM_000290 XM_498188
VERSION     NM_000290.4
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 837)
  AUTHORS   Li,Z., Ning,K., Zhao,D., Zhou,Z., Zhao,J., Long,X., Yang,Z.,
            Chen,D., Cai,X., Hong,L., Zhang,L., Zhou,F., Wang,J. and Li,Y.
  TITLE     Targeting the Metabolic Enzyme PGAM2 Overcomes Enzalutamide
            Resistance in Castration-Resistant Prostate Cancer by Inhibiting
            BCL2 Signaling
  JOURNAL   Cancer Res 83 (22), 3753-3766 (2023)
   PUBMED   37676279
  REMARK    GeneRIF: Targeting the Metabolic Enzyme PGAM2 Overcomes
            Enzalutamide Resistance in Castration-Resistant Prostate Cancer by
            Inhibiting BCL2 Signaling.
REFERENCE   2  (bases 1 to 837)
  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   3  (bases 1 to 837)
  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   4  (bases 1 to 837)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (bases 1 to 837)
  AUTHORS   Xu,Y., Li,F., Lv,L., Li,T., Zhou,X., Deng,C.X., Guan,K.L., Lei,Q.Y.
            and Xiong,Y.
  TITLE     Oxidative stress activates SIRT2 to deacetylate and stimulate
            phosphoglycerate mutase
  JOURNAL   Cancer Res 74 (13), 3630-3642 (2014)
   PUBMED   24786789
  REMARK    GeneRIF: These results reveal a mechanism of PGAM2 regulation and
            NADPH homeostasis in response to oxidative stress that impacts cell
            proliferation and tumor growth.
REFERENCE   6  (bases 1 to 837)
  AUTHORS   Castella-Escola,J., Ojcius,D.M., LeBoulch,P., Joulin,V.,
            Blouquit,Y., Garel,M.C., Valentin,C., Rosa,R., Climent-Romeo,F. and
            Cohen-Solal,M.
  TITLE     Isolation and characterization of the gene encoding the
            muscle-specific isozyme of human phosphoglycerate mutase
  JOURNAL   Gene 91 (2), 225-232 (1990)
   PUBMED   2145198
REFERENCE   7  (bases 1 to 837)
  AUTHORS   Castella-Escola,J., Mattei,M.G., Ojcius,D.M., Passage,E.,
            Valentin,C. and Cohen-Solal,M.
  TITLE     In situ mapping of the muscle-specific form of phosphoglycerate
            mutase gene to human chromosome 7p12-7p13
  JOURNAL   Hum Genet 84 (2), 210-212 (1990)
   PUBMED   2153628
REFERENCE   8  (bases 1 to 837)
  AUTHORS   Tsujino,S., Sakoda,S., Mizuno,R., Kobayashi,T., Suzuki,T.,
            Kishimoto,S., Shanske,S., DiMauro,S. and Schon,E.A.
  TITLE     Structure of the gene encoding the muscle-specific subunit of human
            phosphoglycerate mutase
  JOURNAL   J Biol Chem 264 (26), 15334-15337 (1989)
   PUBMED   2549058
REFERENCE   9  (bases 1 to 837)
  AUTHORS   Shanske,S., Sakoda,S., Hermodson,M.A., DiMauro,S. and Schon,E.A.
  TITLE     Isolation of a cDNA encoding the muscle-specific subunit of human
            phosphoglycerate mutase
  JOURNAL   J Biol Chem 262 (30), 14612-14617 (1987)
   PUBMED   2822696
REFERENCE   10 (bases 1 to 837)
  AUTHORS   Omenn,G.S. and Cheung,S.C.
  TITLE     Phosphoglycerate mutase isozyme marker for tissue differentiation
            in man
  JOURNAL   Am J Hum Genet 26 (3), 393-399 (1974)
   PUBMED   4827367
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC001904.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000290.3.
            
            Summary: Phosphoglycerate mutase (PGAM) catalyzes the reversible
            reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate
            (2-PGA) in the glycolytic pathway. The PGAM is a dimeric enzyme
            containing, in different tissues, different proportions of a
            slow-migrating muscle (MM) isozyme, a fast-migrating brain (BB)
            isozyme, and a hybrid form (MB). This gene encodes muscle-specific
            PGAM subunit. Mutations in this gene cause muscle phosphoglycerate
            mutase eficiency, also known as glycogen storage disease X.
            [provided by RefSeq, Sep 2009].
            
            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 :: BC001904.1, SRR5189655.214859.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000297283.4/ ENSP00000297283.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-837               BC001904.1         29-865
FEATURES             Location/Qualifiers
     source          1..837
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p13"
     gene            1..837
                     /gene="PGAM2"
                     /gene_synonym="GSD10; PGAM-M; PGAMM"
                     /note="phosphoglycerate mutase 2"
                     /db_xref="GeneID:5224"
                     /db_xref="HGNC:HGNC:8889"
                     /db_xref="MIM:612931"
     exon            1..452
                     /gene="PGAM2"
                     /gene_synonym="GSD10; PGAM-M; PGAMM"
                     /inference="alignment:Splign:2.1.0"
     CDS             39..800
                     /gene="PGAM2"
                     /gene_synonym="GSD10; PGAM-M; PGAMM"
                     /EC_number="5.4.2.4"
                     /EC_number="5.4.2.11"
                     /note="BPG-dependent PGAM 2; phosphoglycerate mutase
                     isozyme M; muscle-specific phosphoglycerate mutase;
                     phosphoglycerate mutase 2 (muscle)"
                     /codon_start=1
                     /product="phosphoglycerate mutase 2"
                     /protein_id="NP_000281.2"
                     /db_xref="CCDS:CCDS34624.1"
                     /db_xref="GeneID:5224"
                     /db_xref="HGNC:HGNC:8889"
                     /db_xref="MIM:612931"
                     /translation="MATHRLVMVRHGESTWNQENRFCGWFDAELSEKGTEEAKRGAKA
                     IKDAKMEFDICYTSVLKRAIRTLWAILDGTDQMWLPVVRTWRLNERHYGGLTGLNKAE
                     TAAKHGEEQVKIWRRSFDIPPPPMDEKHPYYNSISKERRYAGLKPGELPTCESLKDTI
                     ARALPFWNEEIVPQIKAGKRVLIAAHGNSLRGIVKHLEGMSDQAIMELNLPTGIPIVY
                     ELNKELKPTKPMQFLGDEETVRKAMEAVAAQGKAK"
     exon            453..633
                     /gene="PGAM2"
                     /gene_synonym="GSD10; PGAM-M; PGAMM"
                     /inference="alignment:Splign:2.1.0"
     exon            634..837
                     /gene="PGAM2"
                     /gene_synonym="GSD10; PGAM-M; PGAMM"
                     /inference="alignment:Splign:2.1.0"
     regulatory      816..821
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PGAM2"
                     /gene_synonym="GSD10; PGAM-M; PGAMM"
                     /note="hexamer: AATAAA"
     polyA_site      837
                     /gene="PGAM2"
                     /gene_synonym="GSD10; PGAM-M; PGAMM"
                     /note="major polyA site"
ORIGIN      
        1 gtccccgtcc agagtcctct gtggtccctg ctgccaccat ggccactcac cgcctcgtga
       61 tggtccggca cggcgagagc acatggaacc aggagaaccg tttctgtggc tggttcgatg
      121 cagagctgag tgaaaagggg accgaggagg ccaagcgggg agccaaggcc atcaaggatg
      181 ccaagatgga gtttgacatc tgctacacgt cagtgctgaa gcgggccatc cgcaccctct
      241 gggccatcct ggacggcacg gaccagatgt ggctgcctgt ggtgcgcact tggcgcctca
      301 atgagcggca ttacgggggc ctcacaggcc tcaacaaggc agaaacggcc gccaagcacg
      361 gggaggagca ggtgaagatc tggaggcgct ccttcgacat cccgccgccc ccgatggacg
      421 agaagcaccc ctactacaac tccattagca aggagcgtcg gtacgcaggc ctgaagcccg
      481 gggaactccc cacctgcgag agcctcaagg acaccattgc ccgggccctg cccttctgga
      541 acgaggagat tgttccccag atcaaggccg gcaagcgagt gctcattgca gcccacggga
      601 acagcctgcg gggcattgtc aagcacctgg aagggatgtc agaccaggcg atcatggagc
      661 tgaacctgcc cacggggatc cccattgtgt atgagctgaa caaggagctg aagcccacca
      721 agcccatgca gttcctgggt gatgaggaaa cggtgcggaa ggccatggag gctgtggctg
      781 cccagggcaa ggccaagtga ggggtgggct tgggcaataa aggcacctcc cccaaca
//
