LOCUS       NM_001276762            1143 bp    mRNA    linear   ROD 09-FEB-2025
DEFINITION  Rattus norvegicus EPM2A glucan phosphatase, laforin (Epm2a), mRNA.
ACCESSION   NM_001276762 XM_002725446 XM_003748648
VERSION     NM_001276762.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Rattus norvegicus (Norway rat)
  ORGANISM  Rattus norvegicus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Rattus.
REFERENCE   1  (bases 1 to 1143)
  AUTHORS   Rai,A., Mishra,R. and Ganesh,S.
  TITLE     Suppression of leptin signaling reduces polyglucosan inclusions and
            seizure susceptibility in a mouse model for Lafora disease
  JOURNAL   Hum Mol Genet 26 (24), 4778-4785 (2017)
   PUBMED   28973665
REFERENCE   2  (bases 1 to 1143)
  AUTHORS   Nitschke,F., Sullivan,M.A., Wang,P., Zhao,X., Chown,E.E.,
            Perri,A.M., Israelian,L., Juana-Lopez,L., Bovolenta,P., Rodriguez
            de Cordoba,S., Steup,M. and Minassian,B.A.
  TITLE     Abnormal glycogen chain length pattern, not hyperphosphorylation,
            is critical in Lafora disease
  JOURNAL   EMBO Mol Med 9 (7), 906-917 (2017)
   PUBMED   28536304
REFERENCE   3  (bases 1 to 1143)
  AUTHORS   Upadhyay,M., Agarwal,S., Bhadauriya,P. and Ganesh,S.
  TITLE     Loss of laforin or malin results in increased Drp1 level and
            concomitant mitochondrial fragmentation in Lafora disease mouse
            models
  JOURNAL   Neurobiol Dis 100, 39-51 (2017)
   PUBMED   28063983
REFERENCE   4  (bases 1 to 1143)
  AUTHORS   Munoz-Ballester,C., Berthier,A., Viana,R. and Sanz,P.
  TITLE     Homeostasis of the astrocytic glutamate transporter GLT-1 is
            altered in mouse models of Lafora disease
  JOURNAL   Biochim Biophys Acta 1862 (6), 1074-1083 (2016)
   PUBMED   26976331
REFERENCE   5  (bases 1 to 1143)
  AUTHORS   Jain,N., Mishra,R. and Ganesh,S.
  TITLE     FoxO3a-mediated autophagy is down-regulated in the laforin
            deficient mice, an animal model for Lafora progressive myoclonus
            epilepsy
  JOURNAL   Biochem Biophys Res Commun 474 (2), 321-327 (2016)
   PUBMED   27107699
  REMARK    Erratum:[Biochem Biophys Res Commun. 2018 Sep 5;503(2):1175-1176.
            doi: 10.1016/j.bbrc.2018.07.052.. PMID: 30025895]
REFERENCE   6  (bases 1 to 1143)
  AUTHORS   Ganesh,S., Delgado-Escueta,A.V., Sakamoto,T., Avila,M.R.,
            Machado-Salas,J., Hoshii,Y., Akagi,T., Gomi,H., Suzuki,T.,
            Amano,K., Agarwala,K.L., Hasegawa,Y., Bai,D.S., Ishihara,T.,
            Hashikawa,T., Itohara,S., Cornford,E.M., Niki,H. and Yamakawa,K.
  TITLE     Targeted disruption of the Epm2a gene causes formation of Lafora
            inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and
            impaired behavioral response in mice
  JOURNAL   Hum Mol Genet 11 (11), 1251-1262 (2002)
   PUBMED   12019206
REFERENCE   7  (bases 1 to 1143)
  AUTHORS   Wang,J., Stuckey,J.A., Wishart,M.J. and Dixon,J.E.
  TITLE     A unique carbohydrate binding domain targets the lafora disease
            phosphatase to glycogen
  JOURNAL   J Biol Chem 277 (4), 2377-2380 (2002)
   PUBMED   11739371
REFERENCE   8  (bases 1 to 1143)
  AUTHORS   Ganesh,S., Agarwala,K.L., Amano,K., Suzuki,T., Delgado-Escueta,A.V.
            and Yamakawa,K.
  TITLE     Regional and developmental expression of Epm2a gene and its
            evolutionary conservation
  JOURNAL   Biochem Biophys Res Commun 283 (5), 1046-1053 (2001)
   PUBMED   11355878
REFERENCE   9  (bases 1 to 1143)
  AUTHORS   Ganesh,S., Agarwala,K.L., Ueda,K., Akagi,T., Shoda,K., Usui,T.,
            Hashikawa,T., Osada,H., Delgado-Escueta,A.V. and Yamakawa,K.
  TITLE     Laforin, defective in the progressive myoclonus epilepsy of Lafora
            type, is a dual-specificity phosphatase associated with
            polyribosomes
  JOURNAL   Hum Mol Genet 9 (15), 2251-2261 (2000)
   PUBMED   11001928
REFERENCE   10 (bases 1 to 1143)
  AUTHORS   Minassian,B.A., Lee,J.R., Herbrick,J.A., Huizenga,J., Soder,S.,
            Mungall,A.J., Dunham,I., Gardner,R., Fong,C.Y., Carpenter,S.,
            Jardim,L., Satishchandra,P., Andermann,E., Snead,O.C. 3rd,
            Lopes-Cendes,I., Tsui,L.C., Delgado-Escueta,A.V., Rouleau,G.A. and
            Scherer,S.W.
  TITLE     Mutations in a gene encoding a novel protein tyrosine phosphatase
            cause progressive myoclonus epilepsy
  JOURNAL   Nat Genet 20 (2), 171-174 (1998)
   PUBMED   9771710
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            JAXUCZ010000001.1.
            
            On or before Mar 1, 2013 this sequence version replaced
            XM_002725446.2, XM_003748648.1.
            
            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.
            
            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 :: AF347030.1, SRR26643296.55.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA5760383, SAMEA5760386
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-301               JAXUCZ010000001.1  7547369-7547669
            302-476             JAXUCZ010000001.1  7603028-7603202
            477-718             JAXUCZ010000001.1  7654013-7654254
            719-1143            JAXUCZ010000001.1  7664934-7665358
FEATURES             Location/Qualifiers
     source          1..1143
                     /organism="Rattus norvegicus"
                     /mol_type="mRNA"
                     /strain="BN"
                     /db_xref="taxon:10116"
                     /chromosome="1"
                     /map="1p13"
     gene            1..1143
                     /gene="Epm2a"
                     /note="EPM2A glucan phosphatase, laforin"
                     /db_xref="GeneID:114005"
                     /db_xref="RGD:71047"
     CDS             1..996
                     /gene="Epm2a"
                     /EC_number="3.1.3.16"
                     /EC_number="3.1.3.48"
                     /note="LAFPTPase; lafora PTPase; epilepsy, progressive
                     myoclonic epilepsy, type 2 gene alpha; glucan phosphatase;
                     epilepsy, progressive myoclonus type 2A; EPM2A, laforin
                     glucan phosphatase"
                     /codon_start=1
                     /product="laforin"
                     /protein_id="NP_001263691.1"
                     /db_xref="GeneID:114005"
                     /db_xref="RGD:71047"
                     /translation="MLFRFGVVVPPAVAGTRLELLLAGSRPELGRWEPRGAVRLRPAG
                     TAAGAAALALQEPGLWLAEVELAPEEEAADGAEPGRIDTFWYKFLQREPGGELHWEGN
                     GPHHDRCCTYNENNLVDGVYCLPVGHWIEATGHTNEMKHTTDFYFNIAGHQAMHYSRI
                     LPNIWLGSCPRQLEHVTIKLKHELGITAVMNFQTEWDIIQNSSGCNRYPEPMTPDTMM
                     KLYKEEGLAYIWMPTPDMSTEGRVQMLPQAVCLLHALLENGHTVYVHCNAGVGRSTAA
                     VCGWLHYVIGWSLRKVQYFIMAKRPAVYIDEEALAQAQQDFFQKFGKVHSSICTL"
     exon            1..301
                     /gene="Epm2a"
                     /inference="alignment:Splign:2.1.0"
     exon            302..476
                     /gene="Epm2a"
                     /inference="alignment:Splign:2.1.0"
     exon            477..718
                     /gene="Epm2a"
                     /inference="alignment:Splign:2.1.0"
     exon            719..1143
                     /gene="Epm2a"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 atgctcttcc gcttcggcgt ggtggtgccg cccgcggtgg ccggcactcg gctggagctg
       61 ctgctcgcag gatcgcggcc cgagttgggg cgctgggagc cgcgcggcgc cgtgcgtctc
      121 aggccggcgg gtaccgcggc gggcgcggcc gcgctggcat tgcaggagcc tggcctgtgg
      181 ctcgctgagg tggagctggc tccggaggag gaggcggccg atggggcgga gccgggccgt
      241 attgacacgt tctggtacaa gttcctgcag cgcgagccgg gaggcgagct gcactgggaa
      301 ggaaatggac ctcaccatga ccgttgctgc acatataatg aaaacaactt ggtggatggt
      361 gtttattgtc tcccagtagg acactggatt gaggccactg ggcacaccaa cgaaatgaag
      421 cacaccacag acttctattt taatattgca ggccaccaag ccatgcatta ttcaagaatt
      481 ctaccaaata tctggttggg tagctgccct cgacaactgg agcatgtgac catcaaactg
      541 aagcatgaac tgggaattac ggctgtcatg aatttccaga ctgaatggga tatcatccag
      601 aattcttcag gctgcaaccg ctacccggaa cccatgactc cagacaccat gatgaagctg
      661 tataaggaag aaggcttggc ctatatctgg atgcctactc cagacatgag cactgagggc
      721 cgcgtgcaga tgctgccaca ggctgtgtgt ctcctgcacg cgcttctgga gaacggacac
      781 acggtgtatg tccactgcaa cgctggcgtg ggccgctcca ctgctgcggt atgcggctgg
      841 ctccactacg tcatcggctg gagtctgcgc aaggtgcagt acttcatcat ggccaagagg
      901 cctgcggtct atatcgacga agaagctttg gcccaagcac aacaagactt ttttcagaag
      961 ttcgggaagg ttcactcttc catatgcact ttgtaggtga ccaaccaccc cttctaactg
     1021 ccttagtaag gaacttgggg gtgtggctag tggaagacct ggagacaaag ttgccatctg
     1081 aataggggac ggtgttacct ggagatacct tctattgtgg cttggttggg cttaggtgtg
     1141 aaa
//
