LOCUS       NM_001357170            1839 bp    mRNA    linear   ROD 20-JUN-2024
DEFINITION  Mus musculus GDP-mannose pyrophosphorylase A (Gmppa), transcript
            variant 3, mRNA.
ACCESSION   NM_001357170 XM_006496536
VERSION     NM_001357170.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 1839)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 1839)
  AUTHORS   Franzka,P., Henze,H., Jung,M.J., Schuler,S.C., Mittag,S.,
            Biskup,K., Liebmann,L., Kentache,T., Morales,J., Martinez,B.,
            Katona,I., Herrmann,T., Huebner,A.K., Hennings,J.C., Groth,S.,
            Gresing,L., Horstkorte,R., Marquardt,T., Weis,J., Kaether,C.,
            Mutchinick,O.M., Ori,A., Huber,O., Blanchard,V., von Maltzahn,J.
            and Hubner,C.A.
  TITLE     GMPPA defects cause a neuromuscular disorder with
            alpha-dystroglycan hyperglycosylation
  JOURNAL   J Clin Invest 131 (9) (2021)
   PUBMED   33755596
  REMARK    GeneRIF: GMPPA defects cause a neuromuscular disorder with
            alpha-dystroglycan hyperglycosylation.
REFERENCE   3  (bases 1 to 1839)
  AUTHORS   Zheng,L., Liu,Z., Wang,Y., Yang,F., Wang,J., Huang,W., Qin,J.,
            Tian,M., Cai,X., Liu,X., Mo,X., Gao,N. and Jia,D.
  TITLE     Cryo-EM structures of human GMPPA-GMPPB complex reveal how cells
            maintain GDP-mannose homeostasis
  JOURNAL   Nat Struct Mol Biol 28 (5), 1-12 (2021)
   PUBMED   33986552
REFERENCE   4  (bases 1 to 1839)
  AUTHORS   Koehler,K., Malik,M., Mahmood,S., Giesselmann,S., Beetz,C.,
            Hennings,J.C., Huebner,A.K., Grahn,A., Reunert,J., Nurnberg,G.,
            Thiele,H., Altmuller,J., Nurnberg,P., Mumtaz,R.,
            Babovic-Vuksanovic,D., Basel-Vanagaite,L., Borck,G., Bramswig,J.,
            Muhlenberg,R., Sarda,P., Sikiric,A., Anyane-Yeboa,K., Zeharia,A.,
            Ahmad,A., Coubes,C., Wada,Y., Marquardt,T., Vanderschaeghe,D., Van
            Schaftingen,E., Kurth,I., Huebner,A. and Hubner,C.A.
  TITLE     Mutations in GMPPA cause a glycosylation disorder characterized by
            intellectual disability and autonomic dysfunction
  JOURNAL   Am J Hum Genet 93 (4), 727-734 (2013)
   PUBMED   24035193
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC114651.12.
            
            [WARNING] On Aug 1, 2024 this sequence was replaced by
            NM_001357170.2.
            
            On Oct 21, 2017 this sequence version replaced XM_006496536.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189670.96153.1,
                                           SRR7345562.1629810.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-377               AC114651.12        140354-140730
            378-438             AC114651.12        141196-141256
            439-536             AC114651.12        141355-141452
            537-640             AC114651.12        142669-142772
            641-827             AC114651.12        143260-143446
            828-887             AC114651.12        143763-143822
            888-1018            AC114651.12        144830-144960
            1019-1153           AC114651.12        145893-146027
            1154-1251           AC114651.12        146148-146245
            1252-1298           AC114651.12        146403-146449
            1299-1391           AC114651.12        146603-146695
            1392-1560           AC114651.12        146862-147030
            1561-1839           AC114651.12        147319-147597
FEATURES             Location/Qualifiers
     source          1..1839
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="1"
                     /map="1 39.04 cM"
     gene            1..1839
                     /gene="Gmppa"
                     /gene_synonym="1810012N01Rik"
                     /note="GDP-mannose pyrophosphorylase A"
                     /db_xref="GeneID:69080"
                     /db_xref="MGI:MGI:1916330"
     exon            1..377
                     /gene="Gmppa"
                     /gene_synonym="1810012N01Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            378..438
                     /gene="Gmppa"
                     /gene_synonym="1810012N01Rik"
                     /inference="alignment:Splign:2.1.0"
     CDS             399..1661
                     /gene="Gmppa"
                     /gene_synonym="1810012N01Rik"
                     /EC_number="2.7.7.13"
                     /note="isoform 1 is encoded by transcript variant 3;
                     mannose-1-phosphate guanyltransferase alpha;
                     GTP-mannose-1-phosphate guanylyltransferase alpha"
                     /codon_start=1
                     /product="mannose-1-phosphate guanyltransferase alpha
                     isoform 1"
                     /protein_id="NP_001344099.1"
                     /db_xref="CCDS:CCDS15072.1"
                     /db_xref="GeneID:69080"
                     /db_xref="MGI:MGI:1916330"
                     /translation="MLKAVILIGGPQKGTRFRPLSFEVPKPLFPVAGVPMIQHHIEAC
                     AQVPGMQEILLIGFYQPDEALTQFLEAAQQEFNLPVRYLQEFAPLGTGGGLYHFRDQI
                     LAGAPEAFFVLNADVCSDFPLSAMLEAHRRQRHPFLLLGTTANRTQSLNYGCIVENPQ
                     THEVLHYVEKPSTFISDIINCGIYLFSPEALKPLRDVFQRNQQDGQLEESPGSWPGAG
                     TIRLEQDVFSALAGQGQIYVHLTDGIWSQIKSAGSALYASRLYLGRYQITHPERLARH
                     TPGGPRIRGNVYIHPTAKVAPSAVLGPNVSIGKGVTIGEGVRLRESIVLHGATLQEHT
                     CVLHSIVGWGSTVGRWARVEGTPNDPNPNDPRARMDSESLFKDGKLLPAITILGCRVR
                     IPAEVLILNSIVLPHKELSRSFTNQIIL"
     exon            439..536
                     /gene="Gmppa"
                     /gene_synonym="1810012N01Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            537..640
                     /gene="Gmppa"
                     /gene_synonym="1810012N01Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            641..827
                     /gene="Gmppa"
                     /gene_synonym="1810012N01Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            828..887
                     /gene="Gmppa"
                     /gene_synonym="1810012N01Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            888..1018
                     /gene="Gmppa"
                     /gene_synonym="1810012N01Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1019..1153
                     /gene="Gmppa"
                     /gene_synonym="1810012N01Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1154..1251
                     /gene="Gmppa"
                     /gene_synonym="1810012N01Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1252..1298
                     /gene="Gmppa"
                     /gene_synonym="1810012N01Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1299..1391
                     /gene="Gmppa"
                     /gene_synonym="1810012N01Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1392..1560
                     /gene="Gmppa"
                     /gene_synonym="1810012N01Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1561..1839
                     /gene="Gmppa"
                     /gene_synonym="1810012N01Rik"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1813..1818
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Gmppa"
                     /gene_synonym="1810012N01Rik"
                     /note="hexamer: AATAAA"
     polyA_site      1835
                     /gene="Gmppa"
                     /gene_synonym="1810012N01Rik"
                     /note="major polyA site"
ORIGIN      
        1 gcgggttgta aggagacacg tacgcggaag gagcaagcag tggcaggcgg cagagctggc
       61 gtaaagggag ctagtggtaa aaggatctac atggtggagg gggtggtggg cagggtaagg
      121 tgtagcagac ggaccctgga cgtagggagg gctcacaggg cctgtctttc tctcctcatg
      181 cccacgcttg tgttggttct ataaccaatg gctacgagaa actgacgtct attggactga
      241 ctcagttgtg gggtccaggt cagcaatcaa tctttggaat ccagagattc cgcaccagtg
      301 gtcggtatgc gcacggctgg agtagtaggc tcagcgtttg acatgtcaac ggaacctgtc
      361 ttttgattcg agcacatgtt taggtaatag cgctcatcat gctcaaagct gtgattctca
      421 ttggaggccc ccagaagggg actcgcttca ggcctttgtc ttttgaggtg cccaaacctc
      481 tgtttcctgt ggcaggcgtt cccatgatcc agcaccatat agaagcctgt gcccaggtcc
      541 cagggatgca ggagattctt ctcattggct tctaccagcc tgatgaggcc ctcacccagt
      601 tcctggaagc tgcccagcag gagtttaacc ttccagtcag gtacctgcag gagtttgccc
      661 ccctcggcac agggggtggc ctctaccatt ttcgggacca gatcctggct ggggcacctg
      721 aggccttctt cgtgctcaat gctgacgtct gctctgactt ccccttgagc gccatgttgg
      781 aggctcacag gcgccagcgc caccctttct tactccttgg caccacggct aacaggacac
      841 aatccctcaa ctacggctgc atcgttgaga atccacagac tcatgaggtt ctgcactatg
      901 tggagaaacc cagcaccttt atcagtgaca tcatcaactg tggcatctac cttttctccc
      961 cagaagccct gaagcctctc cgggatgttt tccagcgtaa ccaacaggat gggcaactgg
     1021 aggagtcccc aggctcgtgg cctggcgcag ggaccatccg actagaacag gacgtgttct
     1081 cagccctggc tgggcagggc caaatctacg tgcacctcac cgatggtatc tggagccaga
     1141 tcaagtctgc aggctcagcc ctttatgcct cccgcctcta tctggggcga taccagatca
     1201 ctcacccaga acggctagcc agacacactc cagggggccc acgcatcaga ggaaatgttt
     1261 acatccatcc aaccgctaaa gtggccccat cagctgtgct gggccccaat gtctccattg
     1321 ggaagggggt gaccataggc gagggtgtgc gtctgcgaga gagcattgtc ctccatggag
     1381 ccactttgca ggaacacacc tgcgtccttc acagcattgt gggctggggg agcactgtgg
     1441 ggcgctgggc ccgtgtagag gggactccca atgaccccaa tccgaatgac ccccgagctc
     1501 gcatggacag tgagagcctc ttcaaagatg gaaagctgct tcctgccatc actatcctgg
     1561 gctgccgtgt tcggatccct gccgaggtgc tcatcttgaa ctcaattgtt ctaccacata
     1621 aggagctaag tcgaagcttc accaaccaaa tcatcctgtg aggatgctgc caaaaggccc
     1681 ccaggactcc cgcccacact cctttgggct gctgcctgcc tggctagctc tgtccagata
     1741 ggacctgagg aagccacctt gtagggagcc ttgtgtgtgg ccagggacac ctggcttccc
     1801 tccctactgc caaataaacc cctatgaacc ttggagcca
//
