LOCUS       NM_002633               2337 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens phosphoglucomutase 1 (PGM1), transcript variant 1,
            mRNA.
ACCESSION   NM_002633
VERSION     NM_002633.3
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 2337)
  AUTHORS   Liu,S., Deng,Y., Yu,Y. and Xia,X.
  TITLE     Knock-down of PGM1 inhibits cell viability, glycolysis, and
            oxidative phosphorylation in glioma under low glucose condition via
            the Myc signaling pathway
  JOURNAL   Biochem Biophys Res Commun 656, 38-45 (2023)
   PUBMED   36947965
  REMARK    GeneRIF: Knock-down of PGM1 inhibits cell viability, glycolysis,
            and oxidative phosphorylation in glioma under low glucose condition
            via the Myc signaling pathway.
REFERENCE   2  (bases 1 to 2337)
  AUTHORS   Stiers,K.M., Owuocha,L.F. and Beamer,L.J.
  TITLE     Effects of the T337M and G391V disease-related variants on human
            phosphoglucomutase 1: structural disruptions large and small
  JOURNAL   Acta Crystallogr F Struct Biol Commun 78 (Pt 5), 200-209 (2022)
   PUBMED   35506765
  REMARK    GeneRIF: Effects of the T337M and G391V disease-related variants on
            human phosphoglucomutase 1: structural disruptions large and small.
REFERENCE   3  (bases 1 to 2337)
  AUTHORS   Beamer,L.J.
  TITLE     Enzyme dysfunction at atomic resolution: Disease-associated
            variants of human phosphoglucomutase-1
  JOURNAL   Biochimie 183, 44-48 (2021)
   PUBMED   32898648
  REMARK    GeneRIF: Enzyme dysfunction at atomic resolution:
            Disease-associated variants of human phosphoglucomutase-1.
            Review article
REFERENCE   4  (bases 1 to 2337)
  AUTHORS   Conte,F., Morava,E., Bakar,N.A., Wortmann,S.B., Poerink,A.J.,
            Grunewald,S., Crushell,E., Al-Gazali,L., de Vries,M.C., Morkrid,L.,
            Hertecant,J., Brocke Holmefjord,K.S., Kronn,D., Feigenbaum,A.,
            Fingerhut,R., Wong,S.Y., van Scherpenzeel,M., Voermans,N.C. and
            Lefeber,D.J.
  TITLE     Phosphoglucomutase-1 deficiency: Early presentation, metabolic
            management and detection in neonatal blood spots
  JOURNAL   Mol Genet Metab 131 (1-2), 135-146 (2020)
   PUBMED   33342467
  REMARK    GeneRIF: Phosphoglucomutase-1 deficiency: Early presentation,
            metabolic management and detection in neonatal blood spots.
REFERENCE   5  (bases 1 to 2337)
  AUTHORS   Backe,P.H., Laerdahl,J.K., Kittelsen,L.S., Dalhus,B., Morkrid,L.
            and Bjoras,M.
  TITLE     Structural basis for substrate and product recognition in human
            phosphoglucomutase-1 (PGM1) isoform 2, a member of the
            alpha-D-phosphohexomutase superfamily
  JOURNAL   Sci Rep 10 (1), 5656 (2020)
   PUBMED   32221390
  REMARK    GeneRIF: Structural basis for substrate and product recognition in
            human phosphoglucomutase-1 (PGM1) isoform 2, a member of the
            alpha-D-phosphohexomutase superfamily.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2337)
  AUTHORS   Sparks,S.E. and Krasnewich,D.M.
  TITLE     Congenital Disorders of N-Linked Glycosylation and Multiple Pathway
            Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301507
REFERENCE   7  (bases 1 to 2337)
  AUTHORS   Dawson,S.J. and White,L.A.
  TITLE     Treatment of Haemophilus aphrophilus endocarditis with
            ciprofloxacin
  JOURNAL   J Infect 24 (3), 317-320 (1992)
   PUBMED   1602151
REFERENCE   8  (bases 1 to 2337)
  AUTHORS   Whitehouse,D.B., Putt,W., Lovegrove,J.U., Morrison,K.,
            Hollyoake,M., Fox,M.F., Hopkinson,D.A. and Edwards,Y.H.
  TITLE     Phosphoglucomutase 1: complete human and rabbit mRNA sequences and
            direct mapping of this highly polymorphic marker on human
            chromosome 1
  JOURNAL   Proc Natl Acad Sci U S A 89 (1), 411-415 (1992)
   PUBMED   1530890
REFERENCE   9  (bases 1 to 2337)
  AUTHORS   Drago,G.A., Hopkinson,D.A., Westwood,S.A. and Whitehouse,D.B.
  TITLE     Antigenic analysis of the major human phosphoglucomutase isozymes:
            PGM1, PGM2, PGM3 and PGM4
  JOURNAL   Ann Hum Genet 55 (4), 263-271 (1991)
   PUBMED   1840235
REFERENCE   10 (bases 1 to 2337)
  AUTHORS   Herbich,J., Szilvassy,J. and Schnedl,W.
  TITLE     Gene localisation of the PGM1 enzyme system and the Duffy blood
            groups on chromosome No. 1 by means of a new fragile site at 1p31
  JOURNAL   Hum Genet 70 (2), 178-180 (1985)
   PUBMED   3159642
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC019920.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_002633.2.
            
            Summary: The protein encoded by this gene is an isozyme of
            phosphoglucomutase (PGM) and belongs to the phosphohexose mutase
            family. There are several PGM isozymes, which are encoded by
            different genes and catalyze the transfer of phosphate between the
            1 and 6 positions of glucose. In most cell types, this PGM isozyme
            is predominant, representing about 90% of total PGM activity. In
            red cells, PGM2 is a major isozyme. This gene is highly
            polymorphic. Mutations in this gene cause glycogen storage disease
            type 14. Alternativley spliced transcript variants encoding
            different isoforms have been identified in this gene.[provided by
            RefSeq, Mar 2010].
            
            Transcript Variant: This variant (1) is dominant and encodes a
            protein of 562aa.
            
            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 :: BC001756.2, SRR3476690.1035358.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000371084.8/ ENSP00000360125.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2337              BC019920.1         136-2472
FEATURES             Location/Qualifiers
     source          1..2337
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p31.3"
     gene            1..2337
                     /gene="PGM1"
                     /gene_synonym="CDG1T; GSD14"
                     /note="phosphoglucomutase 1"
                     /db_xref="GeneID:5236"
                     /db_xref="HGNC:HGNC:8905"
                     /db_xref="MIM:171900"
     exon            1..324
                     /gene="PGM1"
                     /gene_synonym="CDG1T; GSD14"
                     /inference="alignment:Splign:2.1.0"
     CDS             79..1767
                     /gene="PGM1"
                     /gene_synonym="CDG1T; GSD14"
                     /EC_number="5.4.2.2"
                     /note="isoform 1 is encoded by transcript variant 1; PGM
                     1; glucose phosphomutase 1"
                     /codon_start=1
                     /product="phosphoglucomutase-1 isoform 1"
                     /protein_id="NP_002624.2"
                     /db_xref="CCDS:CCDS625.1"
                     /db_xref="GeneID:5236"
                     /db_xref="HGNC:HGNC:8905"
                     /db_xref="MIM:171900"
                     /translation="MVKIVTVKTQAYQDQKPGTSGLRKRVKVFQSSANYAENFIQSII
                     STVEPAQRQEATLVVGGDGRFYMKEAIQLIARIAAANGIGRLVIGQNGILSTPAVSCI
                     IRKIKAIGGIILTASHNPGGPNGDFGIKFNISNGGPAPEAITDKIFQISKTIEEYAVC
                     PDLKVDLGVLGKQQFDLENKFKPFTVEIVDSVEAYATMLRSIFDFSALKELLSGPNRL
                     KIRIDAMHGVVGPYVKKILCEELGAPANSAVNCVPLEDFGGHHPDPNLTYAADLVETM
                     KSGEHDFGAAFDGDGDRNMILGKHGFFVNPSDSVAVIAANIFSIPYFQQTGVRGFARS
                     MPTSGALDRVASATKIALYETPTGWKFFGNLMDASKLSLCGEESFGTGSDHIREKDGL
                     WAVLAWLSILATRKQSVEDILKDHWQKYGRNFFTRYDYEEVEAEGANKMMKDLEALMF
                     DRSFVGKQFSANDKVYTVEKADNFEYSDPVDGSISRNQGLRLIFTDGSRIVFRLSGTG
                     SAGATIRLYIDSYEKDVAKINQDPQVMLAPLISIALKVSQLQERTGRTAPTVIT"
     exon            325..487
                     /gene="PGM1"
                     /gene_synonym="CDG1T; GSD14"
                     /inference="alignment:Splign:2.1.0"
     exon            488..634
                     /gene="PGM1"
                     /gene_synonym="CDG1T; GSD14"
                     /inference="alignment:Splign:2.1.0"
     exon            635..760
                     /gene="PGM1"
                     /gene_synonym="CDG1T; GSD14"
                     /inference="alignment:Splign:2.1.0"
     exon            761..951
                     /gene="PGM1"
                     /gene_synonym="CDG1T; GSD14"
                     /inference="alignment:Splign:2.1.0"
     exon            952..1106
                     /gene="PGM1"
                     /gene_synonym="CDG1T; GSD14"
                     /inference="alignment:Splign:2.1.0"
     exon            1107..1222
                     /gene="PGM1"
                     /gene_synonym="CDG1T; GSD14"
                     /inference="alignment:Splign:2.1.0"
     exon            1223..1358
                     /gene="PGM1"
                     /gene_synonym="CDG1T; GSD14"
                     /inference="alignment:Splign:2.1.0"
     exon            1359..1542
                     /gene="PGM1"
                     /gene_synonym="CDG1T; GSD14"
                     /inference="alignment:Splign:2.1.0"
     exon            1543..1677
                     /gene="PGM1"
                     /gene_synonym="CDG1T; GSD14"
                     /inference="alignment:Splign:2.1.0"
     exon            1678..2337
                     /gene="PGM1"
                     /gene_synonym="CDG1T; GSD14"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2316..2321
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PGM1"
                     /gene_synonym="CDG1T; GSD14"
                     /note="hexamer: AATAAA"
     polyA_site      2337
                     /gene="PGM1"
                     /gene_synonym="CDG1T; GSD14"
                     /note="major polyA site"
ORIGIN      
        1 agagcagctg cagcctcagc cggccgcccc tccgccagcc aagtccgccg ctctgacccc
       61 cggcagcaag tcgccaccat ggtgaagatc gtgacagtta agacccaggc gtaccaggac
      121 cagaagccgg gcacgagcgg gctgcggaag cgggtgaagg tgttccagag cagcgccaac
      181 tacgcggaga acttcatcca gagtatcatc tccaccgtgg agccggcgca gcggcaggag
      241 gccacgctgg tggtgggcgg ggacggccgg ttctacatga aggaggccat ccagctcatc
      301 gctcgcatcg ctgccgccaa cgggatcggt cgcttggtta tcggacagaa tggaatcctc
      361 tccacccctg ctgtatcctg catcattaga aaaatcaaag ccattggtgg gatcattctg
      421 acagccagtc acaacccagg gggccccaat ggagattttg gaatcaaatt caatatttct
      481 aatggaggtc ctgctccaga agcaataact gataaaattt tccaaatcag caagacaatt
      541 gaagaatatg cagtttgccc tgacctgaaa gtagaccttg gtgttctggg aaagcagcag
      601 tttgacttgg aaaataagtt caaacccttc acagtggaaa ttgtggattc ggtagaagct
      661 tatgctacaa tgctgagaag catctttgat ttcagtgcac tgaaagaact actttctggg
      721 ccaaaccgac tgaagatccg tattgatgct atgcatggag ttgtgggacc gtatgtaaag
      781 aagatcctct gtgaagaact cggtgcccct gcgaactcgg cagttaactg cgttcctctg
      841 gaggactttg gaggccacca ccctgacccc aacctcacct atgcagctga cctggtggag
      901 accatgaagt caggagagca tgattttggg gctgcctttg atggagatgg ggatcgaaac
      961 atgattctgg gcaagcatgg gttctttgtg aacccttcag actctgtggc tgtcattgct
     1021 gccaacatct tcagcattcc gtatttccag cagactgggg tccgcggctt tgcacggagc
     1081 atgcccacga gtggtgctct ggaccgggtg gctagtgcta caaagattgc tttgtatgag
     1141 accccaactg gctggaagtt ttttgggaat ttgatggacg cgagcaaact gtccctttgt
     1201 ggggaggaga gcttcgggac cggttctgac cacatccgtg agaaagatgg actgtgggct
     1261 gtccttgcct ggctctccat cctagccacc cgcaagcaga gtgtggagga cattctcaaa
     1321 gatcattggc aaaagtatgg ccggaatttc ttcaccaggt atgattacga ggaggtggaa
     1381 gctgagggcg caaacaaaat gatgaaggac ttggaggccc tgatgtttga tcgctccttt
     1441 gtggggaagc agttctcagc aaatgacaaa gtttacactg tggagaaggc cgataacttt
     1501 gaatacagcg acccagtgga tggaagcatt tcaagaaatc agggcttgcg cctcattttc
     1561 acagatggtt ctcgaatcgt cttccgactg agcggcactg ggagtgccgg ggccaccatt
     1621 cggctgtaca tcgatagcta tgagaaggac gttgccaaga ttaaccagga cccccaggtc
     1681 atgttggccc cccttatttc cattgctctg aaagtgtccc agctgcagga gaggacggga
     1741 cgcactgcac ccactgtcat cacctaagaa gacaggcctg atgtggtacg tccctccacc
     1801 cccggaccca tccaagtcat ctgattgaag agcatgacag aaacaaaatg tattcaccaa
     1861 gcattttagg atttgacttt ttcactaacc agttgacgag cagtgcattt acaaggcact
     1921 gccaaacaag atgcccttgg gagctgtgag ggaaagagga cctgcgggct tagatcaatc
     1981 tcaattcctt ttcatgccct cctgcattgc tgctgcgtgg gtatttgtct ccttagccat
     2041 caggtacagt ttacactaca atgtaagcta taggtggagc atcagcagtg agtgaggcca
     2101 ttcttcatcc ttaggatgtg gcaatgaaat gatggtgcaa gttcctttct cttttgtgaa
     2161 tctttccccc catttcctgt ttacatgtaa cccaacaaaa tgcaatttct agtgccttct
     2221 gtccaatcag ttctttcctc tgagtgagac gtacttggct acagatttct gccttgtttt
     2281 gcgacattgt cccattcaca cagatatttt gggataataa aggaaaataa gctacaa
//
