LOCUS       NM_001724               1711 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens bisphosphoglycerate mutase (BPGM), transcript variant
            1, mRNA.
ACCESSION   NM_001724
VERSION     NM_001724.5
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 1711)
  AUTHORS   van Dijk,M.J., van Oirschot,B.A., Stam-Slob,M.C., Waanders,E., van
            der Zwaag,B., van Beers,E.J., Jans,J.J.M., van der Linden,P.W.,
            Torregrosa Diaz,J.M., Gardie,B., Girodon,F., Schots,R., Thielen,N.
            and van Wijk,R.
  TITLE     Heterozygosity for bisphosphoglycerate mutase deficiency expressing
            clinically as congenital erythrocytosis: A case series and
            literature review
  JOURNAL   Br J Haematol 200 (2), 249-255 (2023)
   PUBMED   36177683
  REMARK    GeneRIF: Heterozygosity for bisphosphoglycerate mutase deficiency
            expressing clinically as congenital erythrocytosis: A case series
            and literature review.
            Review article
REFERENCE   2  (bases 1 to 1711)
  AUTHORS   Lim,M., Brown,H.M., Rose,R.D., Thompson,J.G. and Dunning,K.R.
  TITLE     Dysregulation of bisphosphoglycerate mutase during in vitro
            maturation of oocytes
  JOURNAL   J Assist Reprod Genet 38 (6), 1363-1372 (2021)
   PUBMED   34052998
  REMARK    GeneRIF: Dysregulation of bisphosphoglycerate mutase during in
            vitro maturation of oocytes.
REFERENCE   3  (bases 1 to 1711)
  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   4  (bases 1 to 1711)
  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   5  (bases 1 to 1711)
  AUTHORS   Aldrich,H.C., McDowell,L., Barbosa,M.F., Yomano,L.P., Scopes,R.K.
            and Ingram,L.O.
  TITLE     Immunocytochemical localization of glycolytic and fermentative
            enzymes in Zymomonas mobilis
  JOURNAL   J Bacteriol 174 (13), 4504-4508 (1992)
   PUBMED   1320611
REFERENCE   6  (bases 1 to 1711)
  AUTHORS   Craescu,C.T., Schaad,O., Garel,M.C., Rosa,R. and Edelstein,S.
  TITLE     Structural modeling of the human erythrocyte bisphosphoglycerate
            mutase
  JOURNAL   Biochimie 74 (6), 519-526 (1992)
   PUBMED   1387804
REFERENCE   7  (bases 1 to 1711)
  AUTHORS   Rosa,R., Blouquit,Y., Calvin,M.C., Prome,D., Prome,J.C. and Rosa,J.
  TITLE     Isolation, characterization, and structure of a mutant 89
            Arg----Cys bisphosphoglycerate mutase. Implication of the active
            site in the mutation
  JOURNAL   J Biol Chem 264 (14), 7837-7843 (1989)
   PUBMED   2542247
REFERENCE   8  (bases 1 to 1711)
  AUTHORS   Joulin,V., Garel,M.C., Le Boulch,P., Valentin,C., Rosa,R., Rosa,J.
            and Cohen-Solal,M.
  TITLE     Isolation and characterization of the human 2,3-bisphosphoglycerate
            mutase gene
  JOURNAL   J Biol Chem 263 (30), 15785-15790 (1988)
   PUBMED   2844822
REFERENCE   9  (bases 1 to 1711)
  AUTHORS   Haggarty,N.W., Dunbar,B. and Fothergill,L.A.
  TITLE     The complete amino acid sequence of human erythrocyte
            diphosphoglycerate mutase
  JOURNAL   EMBO J 2 (7), 1213-1220 (1983)
   PUBMED   6313356
REFERENCE   10 (bases 1 to 1711)
  AUTHORS   Rosa,R., Prehu,M.O., Beuzard,Y. and Rosa,J.
  TITLE     The first case of a complete deficiency of diphosphoglycerate
            mutase in human erythrocytes
  JOURNAL   J Clin Invest 62 (5), 907-915 (1978)
   PUBMED   152321
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC017050.1 and BU608668.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001724.4.
            
            Summary: 2,3-diphosphoglycerate (2,3-DPG) is a small molecule found
            at high concentrations in red blood cells where it binds to and
            decreases the oxygen affinity of hemoglobin. This gene encodes a
            multifunctional enzyme that catalyzes 2,3-DPG synthesis via its
            synthetase activity, and 2,3-DPG degradation via its phosphatase
            activity. The enzyme also has phosphoglycerate phosphomutase
            activity. Deficiency of this enzyme increases the affinity of cells
            for oxygen. Mutations in this gene result in hemolytic anemia.
            Multiple alternatively spliced variants, encoding the same protein,
            have been identified. [provided by RefSeq, Sep 2009].
            
            Transcript Variant: This variant (1) differs in the 5' UTR compared
            to variant 2. Variants 1, 2, and 3 encode the same protein.
            
            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 :: HM005615.1, SRR3476690.1129680.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000344924.8/ ENSP00000342032.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1703              BC017050.1         46-1748
            1704-1711           BU608668.1         16-23               c
FEATURES             Location/Qualifiers
     source          1..1711
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q33"
     gene            1..1711
                     /gene="BPGM"
                     /gene_synonym="DPGM; ECYT8"
                     /note="bisphosphoglycerate mutase"
                     /db_xref="GeneID:669"
                     /db_xref="HGNC:HGNC:1093"
                     /db_xref="MIM:613896"
     exon            1..85
                     /gene="BPGM"
                     /gene_synonym="DPGM; ECYT8"
                     /inference="alignment:Splign:2.1.0"
     exon            86..747
                     /gene="BPGM"
                     /gene_synonym="DPGM; ECYT8"
                     /inference="alignment:Splign:2.1.0"
     CDS             147..926
                     /gene="BPGM"
                     /gene_synonym="DPGM; ECYT8"
                     /EC_number="5.4.2.4"
                     /EC_number="5.4.2.11"
                     /note="erythrocyte 2,3-bisphosphoglycerate mutase;
                     2,3-diphosphoglycerate mutase; 2,3-bisphosphoglycerate
                     synthase; 2,3-bisphosphoglycerate mutase, erythrocyte;
                     BPG-dependent PGAM; testis secretory sperm-binding protein
                     Li 202a"
                     /codon_start=1
                     /product="bisphosphoglycerate mutase"
                     /protein_id="NP_001715.1"
                     /db_xref="CCDS:CCDS5833.1"
                     /db_xref="GeneID:669"
                     /db_xref="HGNC:HGNC:1093"
                     /db_xref="MIM:613896"
                     /translation="MSKYKLIMLRHGEGAWNKENRFCSWVDQKLNSEGMEEARNCGKQ
                     LKALNFEFDLVFTSVLNRSIHTAWLILEELGQEWVPVESSWRLNERHYGALIGLNREQ
                     MALNHGEEQVRLWRRSYNVTPPPIEESHPYYQEIYNDRRYKVCDVPLDQLPRSESLKD
                     VLERLLPYWNERIAPEVLRGKTILISAHGNSSRALLKHLEGISDEDIINITLPTGVPI
                     LLELDENLRAVGPHQFLGDQEAIQAAIKKVEDQGKVKQAKK"
     exon            748..1711
                     /gene="BPGM"
                     /gene_synonym="DPGM; ECYT8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1682..1687
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BPGM"
                     /gene_synonym="DPGM; ECYT8"
                     /note="hexamer: AATAAA"
     polyA_site      1711
                     /gene="BPGM"
                     /gene_synonym="DPGM; ECYT8"
                     /note="major polyA site"
ORIGIN      
        1 gatgagtcct aggaggcgct ggctctttgg cggctcggag gagcggctgc tgctgctgct
       61 gctgctgctg gtggcccctt tgcagatgta ttgctgtcct tgaatattag cccatttgaa
      121 aacgcctggg aagttcagcc atcagtatgt ccaagtacaa acttattatg ttaagacatg
      181 gagagggtgc ttggaataag gagaaccgtt tttgtagctg ggtggatcag aaactcaaca
      241 gcgaaggaat ggaggaagct cggaactgtg ggaagcaact caaagcgtta aactttgagt
      301 ttgatcttgt attcacatct gtccttaatc ggtccattca cacagcctgg ctgatcctgg
      361 aagagctagg ccaggaatgg gtgcctgtgg aaagctcctg gcgtctaaat gagcgtcact
      421 atggggcctt gatcggtctc aacagggagc agatggcttt gaatcatggt gaagaacaag
      481 tgaggctctg gagaagaagc tacaatgtaa ccccgcctcc cattgaggag tctcatcctt
      541 actaccaaga aatctacaac gaccggaggt ataaagtatg cgatgtgccc ttggatcaac
      601 tgccacggtc ggaaagctta aaggatgttc tggagagact ccttccctat tggaatgaaa
      661 ggattgctcc cgaagtatta cgtggcaaaa ccattctgat atctgctcat ggaaatagca
      721 gtagggcact cctaaaacac ctggaaggta tctcagatga agacatcatc aacattactc
      781 ttcctactgg agtccccatt cttctggaat tggatgaaaa cctgcgtgct gttgggcctc
      841 atcagttcct gggtgaccaa gaggcgatcc aagcagccat taagaaagta gaagatcaag
      901 gaaaagtgaa acaagctaaa aaatagtctt tctcaactgt tggctaagaa gaaatgcaaa
      961 agaagtggca taggagtgtg ttatgggtgc tgaactctct ctctttttcc ccgattttcc
     1021 agagctaggc tgtggagtag agtttgtata ggtaactagg taacttattg tggcccagat
     1081 aaggctttag gatgcctcag tgcttatgtc atagccttat gagttagctt tcttgctagc
     1141 cccctagtcg gtcaccaaac tagtaactag tggggcttaa tgaaggtcat aagtttctga
     1201 gatgggagag caacaagtag agatgaagtt aaaggtattt atcattcaag aaatcattat
     1261 tgagtcacca ttgacaggca ctattctaat cagtagttca ctttaatatt taataagatt
     1321 ttctgggata acagtaaggg atattagata atataccgta tgtatttatt actagtcttt
     1381 tcctctagga aaagggatac tttgataatt aaggccagag gcccattagt tgagaaagtc
     1441 acagatatat ttctccaaga aagccaacaa ccaccaccac aatgacagaa atgacaacaa
     1501 ggccctttaa cttgtcttct agtttagaga catccttcat ttgacattta gtagaattcc
     1561 tctttggcca caagaataag cagcaaataa acaactatgg ctgttgaggt tctcattttg
     1621 gtttgtttta attttttgaa ctttgggtac ctgtaattag tttaaaaata aagttcctga
     1681 taataaagtg actgaaaatg gcatccccaa a
//
