LOCUS       NM_015599               6079 bp    mRNA    linear   PRI 06-OCT-2024
DEFINITION  Homo sapiens phosphoglucomutase 3 (PGM3), transcript variant 2,
            mRNA.
ACCESSION   NM_015599
VERSION     NM_015599.3
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 6079)
  AUTHORS   Jacob,M., Masood,A. and Abdel Rahman,A.M.
  TITLE     Multi-Omics Profiling in PGM3 and STAT3 Deficiencies: A Tale of Two
            Patients
  JOURNAL   Int J Mol Sci 24 (3), 2406 (2023)
   PUBMED   36768728
  REMARK    GeneRIF: Multi-Omics Profiling in PGM3 and STAT3 Deficiencies: A
            Tale of Two Patients.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 6079)
  AUTHORS   Zhang,N., Liu,S., Xu,J., Ning,T., Xie,S., Min,L., Zhu,S., Zhang,S.
            and Zhu,S.
  TITLE     PGM3 regulates beta-catenin activity to promote colorectal cancer
            cell progression
  JOURNAL   Exp Biol Med (Maywood) 247 (17), 1518-1528 (2022)
   PUBMED   35723049
  REMARK    GeneRIF: PGM3 regulates beta-catenin activity to promote colorectal
            cancer cell progression.
REFERENCE   3  (bases 1 to 6079)
  AUTHORS   Lee,H., Cai,F., Kelekar,N., Velupally,N.K. and Kim,J.
  TITLE     Targeting PGM3 as a Novel Therapeutic Strategy in KRAS/LKB1
            Co-Mutant Lung Cancer
  JOURNAL   Cells 11 (1), 176 (2022)
   PUBMED   35011738
  REMARK    GeneRIF: Targeting PGM3 as a Novel Therapeutic Strategy in
            KRAS/LKB1 Co-Mutant Lung Cancer.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 6079)
  AUTHORS   Pang,H., Amano,S., Inagaki,Y., Okamoto,T., Yamada,K., Kimura,H.,
            Koda,Y. and Yamagishi,S.I.
  TITLE     N-acetylglucosamine-phosphate mutase genotype and diabetic
            microvascular complications
  JOURNAL   Diabet Med 20 (5), 419-420 (2003)
   PUBMED   12752494
REFERENCE   5  (bases 1 to 6079)
  AUTHORS   Pang,H., Koda,Y., Soejima,M. and Kimura,H.
  TITLE     Identification of human phosphoglucomutase 3 (PGM3) as
            N-acetylglucosamine-phosphate mutase (AGM1)
  JOURNAL   Ann Hum Genet 66 (Pt 2), 139-144 (2002)
   PUBMED   12174217
  REMARK    GeneRIF: PGM(3) is identical to AGM(1).
REFERENCE   6  (bases 1 to 6079)
  AUTHORS   Mio,T., Yamada-Okabe,T., Arisawa,M. and Yamada-Okabe,H.
  TITLE     Functional cloning and mutational analysis of the human cDNA for
            phosphoacetylglucosamine mutase: identification of the amino acid
            residues essential for the catalysis
  JOURNAL   Biochim Biophys Acta 1492 (2-3), 369-376 (2000)
   PUBMED   11004509
REFERENCE   7  (bases 1 to 6079)
  AUTHORS   Li,C., Rodriguez,M. and Banerjee,D.
  TITLE     Cloning and characterization of complementary DNA encoding human
            N-acetylglucosamine-phosphate mutase protein
  JOURNAL   Gene 242 (1-2), 97-103 (2000)
   PUBMED   10721701
REFERENCE   8  (bases 1 to 6079)
  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   9  (bases 1 to 6079)
  AUTHORS   Yoshida,H., Abe,T. and Nakamura,F.
  TITLE     Studies on the frequencies of PGM1, PGM3 and Es-D types from hair
            roots in Japanese subjects and the determination of these types
            from old hair roots
  JOURNAL   Forensic Sci Int 14 (1), 1-7 (1979)
   PUBMED   468082
REFERENCE   10 (bases 1 to 6079)
  AUTHORS   Chen,S.H., Anderson,J.E., Giblett,E.R. and Stamatoyannopoulos,G.
  TITLE     Isozyme patterns in erythrocytes from human fetuses
  JOURNAL   Am J Hematol 3, 23-28 (1977)
   PUBMED   203189
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB004046.1, AF180371.1 and
            AL121716.16.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 16, 2018 this sequence version replaced NM_015599.2.
            
            Summary: This gene encodes a member of the phosphohexose mutase
            family. The encoded protein mediates both glycogen formation and
            utilization by catalyzing the interconversion of
            glucose-1-phosphate and glucose-6-phosphate. A non-synonymous
            single nucleotide polymorphism in this gene may play a role in
            resistance to diabetic nephropathy and neuropathy. Alternatively
            spliced transcript variants encoding multiple isoforms have been
            observed for this gene. [provided by RefSeq, Dec 2010].
            
            Transcript Variant: This variant (2) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and initiates translation at an
            alternate start codon, compared to variant 1. The encoded isoform
            (2) has a distinct N-terminus and is shorter than isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR1803611.156420.1,
                                           SRR1803614.231276.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000513973.6/ ENSP00000424874.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-49                DB004046.1         29-77
            50-2043             AF180371.1         1-1994
            2044-6079           AL121716.16        17646-21681
FEATURES             Location/Qualifiers
     source          1..6079
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q14.1"
     gene            1..6079
                     /gene="PGM3"
                     /gene_synonym="AGM1; IMD23; PAGM; PGM 3"
                     /note="phosphoglucomutase 3"
                     /db_xref="GeneID:5238"
                     /db_xref="HGNC:HGNC:8907"
                     /db_xref="MIM:172100"
     exon            1..87
                     /gene="PGM3"
                     /gene_synonym="AGM1; IMD23; PAGM; PGM 3"
                     /inference="alignment:Splign:2.1.0"
     exon            88..293
                     /gene="PGM3"
                     /gene_synonym="AGM1; IMD23; PAGM; PGM 3"
                     /inference="alignment:Splign:2.1.0"
     CDS             90..1718
                     /gene="PGM3"
                     /gene_synonym="AGM1; IMD23; PAGM; PGM 3"
                     /EC_number="5.4.2.3"
                     /note="isoform 2 is encoded by transcript variant 2;
                     acetylglucosamine phosphomutase; phosphoacetylglucosamine
                     mutase; N-acetylglucosamine-phosphate mutase 1"
                     /codon_start=1
                     /product="phosphoacetylglucosamine mutase isoform 2"
                     /protein_id="NP_056414.1"
                     /db_xref="CCDS:CCDS4997.1"
                     /db_xref="GeneID:5238"
                     /db_xref="HGNC:HGNC:8907"
                     /db_xref="MIM:172100"
                     /translation="MDLGAITKYSALHAKPNGLILQYGTAGFRTKAEHLDHVMFRMGL
                     LAVLRSKQTKSTIGVMVTASHNPEEDNGVKLVDPLGEMLAPSWEEHATCLANAEEQDM
                     QRVLIDISEKEAVNLQQDAFVVIGRDTRPSSEKLSQSVIDGVTVLGGQFHDYGLLTTP
                     QLHYMVYCRNTGGRYGKATIEGYYQKLSKAFVELTKQASCSGDEYRSLKVDCANGIGA
                     LKLREMEHYFSQGLSVQLFNDGSKGKLNHLCGADFVKSHQKPPQGMEIKSNERCCSFD
                     GDADRIVYYYHDADGHFHLIDGDKIATLISSFLKELLVEIGESLNIGVVQTAYANGSS
                     TRYLEEVMKVPVYCTKTGVKHLHHKAQEFDIGVYFEANGHGTALFSTAVEMKIKQSAE
                     QLEDKKRKAAKMLENIIDLFNQAAGDAISDMLVIEAILALKGLTVQQWDALYTDLPNR
                     QLKVQVADRRVISTTDAERQAVTPPGLQEAINDLVKKYKLSRAFVRPSGTEDVVRVYA
                     EADSQESADHLAHEVSLAVFQLAGGIGERPQPGF"
     exon            294..478
                     /gene="PGM3"
                     /gene_synonym="AGM1; IMD23; PAGM; PGM 3"
                     /inference="alignment:Splign:2.1.0"
     exon            479..546
                     /gene="PGM3"
                     /gene_synonym="AGM1; IMD23; PAGM; PGM 3"
                     /inference="alignment:Splign:2.1.0"
     exon            547..680
                     /gene="PGM3"
                     /gene_synonym="AGM1; IMD23; PAGM; PGM 3"
                     /inference="alignment:Splign:2.1.0"
     exon            681..876
                     /gene="PGM3"
                     /gene_synonym="AGM1; IMD23; PAGM; PGM 3"
                     /inference="alignment:Splign:2.1.0"
     exon            877..1034
                     /gene="PGM3"
                     /gene_synonym="AGM1; IMD23; PAGM; PGM 3"
                     /inference="alignment:Splign:2.1.0"
     exon            1035..1118
                     /gene="PGM3"
                     /gene_synonym="AGM1; IMD23; PAGM; PGM 3"
                     /inference="alignment:Splign:2.1.0"
     exon            1119..1217
                     /gene="PGM3"
                     /gene_synonym="AGM1; IMD23; PAGM; PGM 3"
                     /inference="alignment:Splign:2.1.0"
     exon            1218..1331
                     /gene="PGM3"
                     /gene_synonym="AGM1; IMD23; PAGM; PGM 3"
                     /inference="alignment:Splign:2.1.0"
     exon            1332..1454
                     /gene="PGM3"
                     /gene_synonym="AGM1; IMD23; PAGM; PGM 3"
                     /inference="alignment:Splign:2.1.0"
     exon            1455..1628
                     /gene="PGM3"
                     /gene_synonym="AGM1; IMD23; PAGM; PGM 3"
                     /inference="alignment:Splign:2.1.0"
     exon            1629..6079
                     /gene="PGM3"
                     /gene_synonym="AGM1; IMD23; PAGM; PGM 3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2026..2031
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PGM3"
                     /gene_synonym="AGM1; IMD23; PAGM; PGM 3"
                     /note="hexamer: ATTAAA"
     polyA_site      2043
                     /gene="PGM3"
                     /gene_synonym="AGM1; IMD23; PAGM; PGM 3"
                     /note="major polyA site"
     regulatory      4340..4345
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PGM3"
                     /gene_synonym="AGM1; IMD23; PAGM; PGM 3"
                     /note="hexamer: AATAAA"
     polyA_site      4365
                     /gene="PGM3"
                     /gene_synonym="AGM1; IMD23; PAGM; PGM 3"
     regulatory      5451..5456
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PGM3"
                     /gene_synonym="AGM1; IMD23; PAGM; PGM 3"
                     /note="hexamer: AATAAA"
     polyA_site      5472
                     /gene="PGM3"
                     /gene_synonym="AGM1; IMD23; PAGM; PGM 3"
     regulatory      6054..6059
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PGM3"
                     /gene_synonym="AGM1; IMD23; PAGM; PGM 3"
                     /note="hexamer: AATAAA"
     polyA_site      6079
                     /gene="PGM3"
                     /gene_synonym="AGM1; IMD23; PAGM; PGM 3"
ORIGIN      
        1 gcggttctga ggactgggtt tgggtgcaga cgttgttgct tgggcgcttc tccgctgcgt
       61 gtaggtgaag ggggcttcct gaccgagaca tggatttagg tgctattaca aaatactcag
      121 cattacacgc caagcccaat ggactgatcc ttcaatacgg gactgctgga tttcgaacga
      181 aggcagaaca tcttgatcat gtcatgtttc gcatgggatt attagctgtc ctgaggtcaa
      241 aacagacaaa atccactata ggagtcatgg taacagcgtc ccacaatcct gaggaagaca
      301 atggtgtaaa attggttgat cctttgggtg aaatgttggc accatcctgg gaggaacatg
      361 ccacctgttt agcaaatgct gaggaacaag atatgcagag agtgcttatt gacatcagcg
      421 agaaagaagc tgtgaatctg caacaagatg cctttgtagt tattggtaga gataccaggc
      481 ccagcagtga gaaactttca caatctgtaa tagatggtgt gactgttcta ggaggtcaat
      541 tccatgatta tggcttgtta acaacacccc agctgcacta catggtgtat tgtcgaaaca
      601 cgggtggccg atatggaaag gcaactatag aaggttacta ccagaaactc tctaaggctt
      661 ttgtggaact caccaaacag gcttcttgca gtggagatga atacagatca cttaaggttg
      721 actgtgcaaa tggcataggg gccctgaagc taagggaaat ggaacactac ttctcacagg
      781 gcctgtcagt tcagctgttt aatgatgggt ccaagggcaa actcaatcat ttatgtggag
      841 ctgactttgt gaaaagtcat cagaaacctc cacagggaat ggaaattaag tccaatgaaa
      901 gatgctgttc ttttgatgga gatgcagaca gaattgttta ttactaccat gatgcagatg
      961 gccactttca tctcatagat ggagacaaga tagcaacgtt aattagcagt ttccttaaag
     1021 agctcctggt ggagattgga gaaagtttga atattggtgt tgtacaaact gcatatgcaa
     1081 atggaagttc aacacggtat cttgaagaag ttatgaaggt acctgtctat tgcactaaga
     1141 ctggtgtaaa acatttgcac cacaaggctc aagagtttga cattggagtt tattttgaag
     1201 caaatgggca tggcactgca ctgtttagta cagctgttga aatgaagata aaacaatcag
     1261 cagaacaact ggaagataag aaaagaaaag ctgctaagat gcttgaaaac attattgact
     1321 tgtttaacca ggcagctggt gatgctattt ctgacatgct ggtgattgaa gcaatcttgg
     1381 ctctgaaggg cttgactgta caacagtggg atgctctcta tacagatctt ccaaacagac
     1441 aacttaaagt tcaggttgca gacaggagag ttattagcac taccgatgct gaaagacaag
     1501 cagttacacc cccaggatta caggaggcaa tcaatgacct ggtgaagaag tacaagcttt
     1561 ctcgagcttt tgtccggccc tctggtacag aagatgtcgt ccgagtatat gcagaagcag
     1621 actcacaaga aagtgcagat caccttgcac atgaagtgag cttggcagta tttcagctgg
     1681 ctggaggaat tggagaaagg ccccaaccag gtttctgaag ataattttca tattcctgag
     1741 aaactggact ttttacaagt ctttacaaaa ctgtcaataa taatggcagt actaagagat
     1801 ttataatcat aatgtttaca atgcagccta ctggattgtc tctagatctg tttttcttaa
     1861 acactaacag aataattctt tataaatagg taagccttac acttgttaaa gaaatttacc
     1921 tctaatttca gtctcactaa tgtaaaatac tgggacttaa gtatacaatt cagtcactaa
     1981 ctgtacagtt ttatgtgggg aacaattcat gcaggctact ggaaaattaa atcttattac
     2041 caactccttg tgatatcttt gccatcacca tcacatgagc aagatgatgt tttgcagcat
     2101 tccccattgc tgatacaaat ggagagggca gagaagactt tatacaacca gtttttccat
     2161 tgcagagtct taagaaagat tattagatga cttacctata tgactaatgc catcaggaac
     2221 tcagaggtat gaataggggg ttgtccatcc ctcttccata ctgaggtgga gatgctcatg
     2281 caatactttt aaggatgcat ggtccagcct tcagttattc ttcactgctc ttggtgaagg
     2341 tatgtgggag aaaaactaat tataatacgt ttcccagcct ctgatggaga aggaacacca
     2401 ttctgatacc agaacatggt taataaggaa aagagaaaaa tccccaacca atcttaattg
     2461 aaccaagtct gaaaccaatg gaaaaaaaaa atgggtagtg tatattttgc aggtttaaga
     2521 caactcagga caataaaaac aatggacttt acatgtgtat atatatagct ctcttaggca
     2581 ccataatcag tatgagccaa caatatttaa acttgattca ggccacattc agacatttgc
     2641 tcttatatac aaatatttaa attaaataca atctgaaatg tgttctgtta catacaaaaa
     2701 aggaaaaact atacaacgca gagcagtgtg tgtgttttaa ataattacat ttacatgtaa
     2761 gctaaatgga accagcaatg gtgctcaagt ttttatcatc ccttccagaa aatctttttc
     2821 taccatctct tctatttttt gcctggcttt gctggaacat ggtttgtggt tctccagttt
     2881 catgtcctta ttagggaagg catttgagta gaggatagga ctccctgagt gtcctccaca
     2941 tcggcttgtg actttgctgt tgaagacttg actgagcaca ttgaagaacg gcaggagctg
     3001 ctccatactg cgcacggtgc agatggtgag cagcaagtgc cctggctccc aacccaatgt
     3061 tctccctgag ttgtcttcct ctggattttt ctgcagaaaa caaaaagtga actggtatta
     3121 atacaacaga caatgtggta tgttagaaaa attaaaaata tataaacttt ggcaattggt
     3181 caagaaatga atacaaatga cattaagttt ctaactcctg acctgatcaa aacccttggt
     3241 gcttctgaga ccttttactg ccatttatta gttttacatg gagcagtcta acattgtagt
     3301 aatagttccc aactagaatg cgcagataag cttagttaac agaaatagct ttgaacagga
     3361 atagagtcaa acataaaagt tttatgttgt gctttgtatt tactcaaaaa gctcccaggt
     3421 ttctgaaccc tcactactgt aaccaaggac taggtcacaa aattactaca gaaaaaagga
     3481 acaaagtgct ttatacattt cataatatat ccccttttat tataattagt taattccctt
     3541 ttatctaaat ggcctaaatt tgccatgatg gtagcagtgt ccaaagtgaa taattactgt
     3601 cagtactgca tcacagagaa aggaagggat ccctcaggag acactgctgt ctccttctgg
     3661 gttgtgctaa acaacatagg gaggaaagct ggacctggag tcaaaggaat tgagttagtg
     3721 tgctggctct gccatactta cggcaccctt gggcaggata tacaaaggtt cctcacttat
     3781 aaaatgggac agtctaaaac taccttttag tagagaagtc aaatgagaag gtatgtgaaa
     3841 actctgtcaa ctaaatataa agactaataa tttgggtatt aagaggctag tttgagaagc
     3901 cacctgaatt acacaaacac agctacagac atcattctgt ctagagaaag ataagagaga
     3961 acaggttggt tgaacttggg cagaatcaca gatacaattc cacactaaag aatgaaaata
     4021 agcaatgaac tagacagaag gaagaaatca tgaagactta ggaagcagaa ttacaatctg
     4081 tcatattaac aaatggagtt tgccttctaa gatcagatgt tgctcagaaa ctttcattgt
     4141 ttacctaata atttaatatc actagtttcc tagtgggtca agcagatgca aaatccagct
     4201 tattttcttc tatgtgctct caagcttatt gcttatttta aagtaaaatc ctgaaaaagg
     4261 aaaatattag gttggtgcaa acgtaattgc ggtttttgca ttgttgaaat ttgccgtttt
     4321 atattggagt acattcttaa ataaatgtgg ttatgttata catcatttta agcatatttc
     4381 tcactttttt tttgctaatg acttattgct gtttatattt attttagact atggaaatga
     4441 tgttagacaa aaatcaaatt tagcgatttt ctgagttcaa aataggttat aaagcagcag
     4501 agacaacaca caacatcaac aatgcatttg gcccaggaac tgctaatgaa catacagtgc
     4561 cgtgatggct caagaagttt tgcaaaggag actagagcct tgaagatgag gagtgcagtg
     4621 gccagtcatc ggaaattgat aatgaccaat tgagaacatc atcgaagctg atcctcttac
     4681 aactataaga gagctgccca agaactcaat gttgaccatt ttatggtcgt tcggcatttg
     4741 aagcaaattg aaaaggtgaa aaagctcaat aaatgggtgc ctcatgagct gagtgaaaaa
     4801 taaaaaaatt cgttgttttg aagtgtcatt ttctctattc tatgcaacaa taatgaatca
     4861 tttctctatc ggattgtgat gtgtgccaaa aggtggattt tatacgacaa ctggcgatga
     4921 ccagctcagt ggctggactg aaagaagctc caaagcactt cccaaagcca aacttgctcc
     4981 aaaaaatggt catggtcatt gtttggtggt ttgctgccag tctgatccac tacagctttc
     5041 tgaatccagg tgaaaccatt acatctgata agtatgctca gcaaatcaat gagatgcacc
     5101 aaaaactgca atgcctgcag ccggcattgg ccaccagaaa gggcccaatt cttttcacga
     5161 caacactggg ccgcacgttg cacaaccaac gcttcgaaaa ttgaactaat tgggctatga
     5221 agttttgcct catctgccat attcacctga cctcttgcca acaaactacc acttctttag
     5281 gcatctcagc aacgttttgc agggaaattg cttccacaac tagcaggaca cagaaaatgc
     5341 tttccaagag ttcgtcaaat ttggaagcat ggatttttat gctacaggag taaacaaact
     5401 tatttctcat tggcaaaaat gtgttgattg taatggttcc tattttaatt aataaagatt
     5461 tgtgtgaacc tagttataat gacttaaaat tcatggtccc aaacagcaat tacttttgca
     5521 ccaaactaaa aatataagtt aaaatggaag agtctaggag caaaccaaga aaagatcacc
     5581 tacttcatca tctctggtca aaaacaaacc aaaaaactta acagctatca cttaagtttg
     5641 cttcctagca attatttagc ttccagtcta gattacagga tatataaaac tttctttctt
     5701 tctttcttaa ctatgacact ggcaccaatg agagtcctgt gactgacttt cacatttcca
     5761 ccattactca attactggta ccataccacc tctaatcccc taaatcaaac tgcaattcaa
     5821 caataaaggg cgtacagaga tgactttgtc ctgaaggaaa atgaatatcc ttgtaccctc
     5881 tatatagcta acttccaaat gtaagagaac tatggggtaa ccttttgttt ctattcctat
     5941 caagatgagc ctttaagaga gggactttta ttaagctctt gaccaagaag aatacacttg
     6001 attcagagtt tctgatgctc ttaatcagaa ctatatgtat tgtctcaata ttaaataaag
     6061 tcaaatgttt ccatacaaa
//
