LOCUS       NM_175340               2308 bp    mRNA    linear   ROD 03-JUN-2024
DEFINITION  Mus musculus NHL repeat containing 1 (Nhlrc1), mRNA.
ACCESSION   NM_175340
VERSION     NM_175340.4
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 2308)
  AUTHORS   Skurat,A.V., Segvich,D.M., Contreras,C.J., Hu,Y.C., Hurley,T.D.,
            DePaoli-Roach,A.A. and Roach,P.J.
  TITLE     Impaired malin expression and interaction with partner proteins in
            Lafora disease
  JOURNAL   J Biol Chem 300 (5), 107271 (2024)
   PUBMED   38588813
REFERENCE   2  (bases 1 to 2308)
  AUTHORS   Roma-Mateo,C., Lorente-Pozo,S., Marquez-Thibaut,L.,
            Moreno-Estelles,M., Garces,C., Gonzalez,D., Lahuerta,M., Aguado,C.,
            Garcia-Gimenez,J.L., Sanz,P. and Pallardo,F.V.
  TITLE     Age-Related microRNA Overexpression in Lafora Disease Male Mice
            Provides Links between Neuroinflammation and Oxidative Stress
  JOURNAL   Int J Mol Sci 24 (2), 1089 (2023)
   PUBMED   36674605
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2308)
  AUTHORS   Mitra,S., Chen,B., Wang,P., Chown,E.E., Dear,M., Guisso,D.R.,
            Mariam,U., Wu,J., Gumusgoz,E. and Minassian,B.A.
  TITLE     Laforin targets malin to glycogen in Lafora progressive myoclonus
            epilepsy
  JOURNAL   Dis Model Mech 16 (1) (2023)
   PUBMED   36511140
  REMARK    GeneRIF: Laforin targets malin to glycogen in Lafora progressive
            myoclonus epilepsy.
REFERENCE   4  (bases 1 to 2308)
  AUTHORS   Rubio,T., Viana,R., Moreno-Estelles,M., Campos-Rodriguez,A. and
            Sanz,P.
  TITLE     TNF and IL6/Jak2 signaling pathways are the main contributors of
            the glia-derived neuroinflammation present in Lafora disease, a
            fatal form of progressive myoclonus epilepsy
  JOURNAL   Neurobiol Dis 176, 105964 (2023)
   PUBMED   36526090
REFERENCE   5  (bases 1 to 2308)
  AUTHORS   Pellegrini,P., Hervera,A., Varea,O., Brewer,M.K., Lopez-Soldado,I.,
            Guitart,A., Aguilera,M., Prats,N., Del Rio,J.A., Guinovart,J.J. and
            Duran,J.
  TITLE     Lack of p62 Impairs Glycogen Aggregation and Exacerbates Pathology
            in a Mouse Model of Myoclonic Epilepsy of Lafora
  JOURNAL   Mol Neurobiol 59 (2), 1214-1229 (2022)
   PUBMED   34962634
REFERENCE   6  (bases 1 to 2308)
  AUTHORS   Vernia,S., Rubio,T., Heredia,M., Rodriguez de Cordoba,S. and
            Sanz,P.
  TITLE     Increased endoplasmic reticulum stress and decreased proteasomal
            function in lafora disease models lacking the phosphatase laforin
  JOURNAL   PLoS One 4 (6), e5907 (2009)
   PUBMED   19529779
  REMARK    GeneRIF: laforin and malin play a role protecting cells from
            ER-stress, likely contributing to the elimination of unfolded
            proteins
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2308)
  AUTHORS   Vilchez,D., Ros,S., Cifuentes,D., Pujadas,L., Valles,J.,
            Garcia-Fojeda,B., Criado-Garcia,O., Fernandez-Sanchez,E.,
            Medrano-Fernandez,I., Dominguez,J., Garcia-Rocha,M., Soriano,E.,
            Rodriguez de Cordoba,S. and Guinovart,J.J.
  TITLE     Mechanism suppressing glycogen synthesis in neurons and its demise
            in progressive myoclonus epilepsy
  JOURNAL   Nat Neurosci 10 (11), 1407-1413 (2007)
   PUBMED   17952067
REFERENCE   8  (bases 1 to 2308)
  AUTHORS   Cheng,A., Zhang,M., Gentry,M.S., Worby,C.A., Dixon,J.E. and
            Saltiel,A.R.
  TITLE     A role for AGL ubiquitination in the glycogen storage disorders of
            Lafora and Cori's disease
  JOURNAL   Genes Dev 21 (19), 2399-2409 (2007)
   PUBMED   17908927
REFERENCE   9  (bases 1 to 2308)
  AUTHORS   Gentry,M.S., Worby,C.A. and Dixon,J.E.
  TITLE     Insights into Lafora disease: malin is an E3 ubiquitin ligase that
            ubiquitinates and promotes the degradation of laforin
  JOURNAL   Proc Natl Acad Sci U S A 102 (24), 8501-8506 (2005)
   PUBMED   15930137
REFERENCE   10 (bases 1 to 2308)
  AUTHORS   Chan,E.M., Young,E.J., Ianzano,L., Munteanu,I., Zhao,X.,
            Christopoulos,C.C., Avanzini,G., Elia,M., Ackerley,C.A.,
            Jovic,N.J., Bohlega,S., Andermann,E., Rouleau,G.A.,
            Delgado-Escueta,A.V., Minassian,B.A. and Scherer,S.W.
  TITLE     Mutations in NHLRC1 cause progressive myoclonus epilepsy
  JOURNAL   Nat Genet 35 (2), 125-127 (2003)
   PUBMED   12958597
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BY340986.1, BC118952.1, AK045746.1 and BX514773.1.
            
            On Jul 14, 2009 this sequence version replaced NM_175340.3.
            
            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.
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-31                BY340986.1         1-31
            32-1832             BC118952.1         1-1801
            1833-2229           AK045746.1         1804-2200
            2230-2308           BX514773.1         373-451
FEATURES             Location/Qualifiers
     source          1..2308
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="13"
                     /map="13 24.5 cM"
     gene            1..2308
                     /gene="Nhlrc1"
                     /gene_synonym="B230309E09Rik; EPM2B"
                     /note="NHL repeat containing 1"
                     /db_xref="GeneID:105193"
                     /db_xref="MGI:MGI:2145264"
     exon            1..2294
                     /gene="Nhlrc1"
                     /gene_synonym="B230309E09Rik; EPM2B"
                     /inference="alignment:Splign:2.1.0"
     CDS             72..1277
                     /gene="Nhlrc1"
                     /gene_synonym="B230309E09Rik; EPM2B"
                     /EC_number="2.3.2.27"
                     /note="NHL repeat-containing protein 1; malin; RING-type
                     E3 ubiquitin transferase NHLRC1"
                     /codon_start=1
                     /product="E3 ubiquitin-protein ligase NHLRC1"
                     /protein_id="NP_780549.1"
                     /db_xref="CCDS:CCDS26487.1"
                     /db_xref="GeneID:105193"
                     /db_xref="MGI:MGI:2145264"
                     /translation="MGEEATAVAAAGVRPELVREAEVSLLECKVCFERFGHWQQRRPR
                     NLPCGHVVCLACVAALAHPRTLGLECPFCRRACRACDTSDCLPVLHLLELLGSTLHAS
                     PAALSAAPFAPGTLTCYHAFGGWGTLVNPTGLALCPKTGRVVVVHDGKRRVKIFDSGG
                     GGAHQFGEKGDAAHDVKYPLDVAVTNDCHVVVTDAGDCSLKVFDFFGQIKLVVGKQFS
                     LPWGVEITPHNGVLVTDAEAGTLHLLEADFPEGVLRRIERLQAHLCSPRGLAVSWLTG
                     AIAVLEHPCAFGRTGCNNTRVKVFNSTMQLIGQVDSFGLNLLFPSKVTASAVTFDHQG
                     NVIVADTSGPAIVCLGKPEEFPALKPIITHGLSRPVALAFTKENSLLVLDTASHSIKV
                     FKVMEGNGG"
     regulatory      2272..2277
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Nhlrc1"
                     /gene_synonym="B230309E09Rik; EPM2B"
                     /note="hexamer: AATAAA"
     polyA_site      2294
                     /gene="Nhlrc1"
                     /gene_synonym="B230309E09Rik; EPM2B"
                     /note="major polyA site"
ORIGIN      
        1 atgccccgct ccgtgaccgt gaccgtggcc gtgactgagg gctgcgcgga ggcagcggag
       61 cagcgggagc aatgggggag gaggcgacgg cggtggcagc ggctggggtg cggcccgagc
      121 tggtgcggga ggcggaggtc agcctgctgg agtgcaaggt gtgcttcgag aggttcggcc
      181 actggcagca gcggcgcccg cgcaacctgc cctgcggcca cgtggtctgc ttggcctgtg
      241 tcgccgctct cgcgcacccg cggacgctgg gcctcgagtg tcccttctgc cggcgggcct
      301 gccgagcctg tgacaccagc gattgcctgc cggtgctgca cctcctggag ctcctgggct
      361 ccaccctcca cgcgtccccg gctgccctca gcgccgcccc cttcgcgccg gggactctca
      421 cctgctacca cgccttcggc gggtggggga ccctagtgaa ccccacaggg cttgcactgt
      481 gccccaagac cggacgggta gtggtcgtgc acgacgggaa gagacgggtc aagatctttg
      541 actccggagg aggaggtgca caccagtttg gagaaaaggg ggacgcagcg cacgacgtga
      601 agtacccact ggatgtcgcc gtcaccaacg actgccatgt ggttgtcacc gacgctggcg
      661 actgctccct caaagtgttt gatttctttg gccagatcaa gctggttgtg ggaaagcagt
      721 tttccctgcc ttggggtgtg gagatcaccc ctcacaatgg ggtcctggtg actgatgcag
      781 aggcagggac tttgcacctg ctggaagcgg atttccctga aggggtcctt cggaggattg
      841 agaggttgca agctcaccta tgcagtcccc gtgggttggc agtgtcatgg ctcacggggg
      901 ccatcgcggt cctagagcat ccttgtgcct ttgggaggac tggctgtaac aacacaaggg
      961 tgaaggtgtt caactccact atgcagctga ttggccaggt ggatagcttc gggctgaacc
     1021 tcctcttccc ctccaaagta actgcctctg ctgtgacctt cgatcaccaa ggaaacgtga
     1081 ttgttgctga cacctctggt ccagccatcg tctgcttggg gaaacccgaa gaattcccag
     1141 ccctgaagcc tataatcact cacggcctct cccgtcctgt ggcactggcc ttcaccaagg
     1201 agaattctct tcttgtgctg gatactgcat cccattctat aaaagtcttt aaagtgatgg
     1261 agggcaacgg agggtgatgg ggatcctgaa gccaggagtc agaaatcttg gtgtcattgg
     1321 gagtgaattg gtctcaccca tccatccaga cagaagtaat ggtaactgaa tggcaaaagc
     1381 agttactaag gcagttttaa aagactaata attaaatttg tcattcggtg aatgcctgtt
     1441 cccgtgttaa gaaatttgca gatcttagcc tgtttgcttc ttaacacaca gcgatgttaa
     1501 ttcctattat ccgtccactt gggagatgag aagacagacc cagagcattc agtatggttt
     1561 ctttagagtt gtattcactg ggacagttga attcagttct ggctccaaac cacttgctct
     1621 tagatatgat gttagatgtc gtcaacaaca acaaaaactg tgagctgtgt cttatgtatg
     1681 tatgttctcc ttacaagtgg gtaactggta aagtgcacaa agacaagaaa ggggtcttca
     1741 tggggatttt aggagaaaag ggaagttgtc catcaccttc agctgtgagc tcccccaaag
     1801 gtagagtaga tagcttatta ccagttccaa gatttgaaca agaaacaaag ttgagctctt
     1861 tccttataag gcaaaggctg ccaggatgat agtgtgtgcc agaactccaa atcctgagaa
     1921 gtggaggcag gaagttcaat gcaatctgca gcttagctac ctagtaattt tgaggctaag
     1981 ctggactagt gtgttctctc tctctccctc tctttctctc cctctctccc cctctttctt
     2041 cttcctctat gggcactggg aactatcccg cagtgataat ttgagaaaaa tctgcagagc
     2101 cactgcctgc tagcgtcatg ggcatatgag actcgtgtta attagatctt gccccagcac
     2161 attgatggca gaagtgattt tgtttggtgt ggtaaatctc tgacgcctga agcactttgt
     2221 gatggaggct tttctctgtg taatttgaaa tgtgattcaa acactgtact taataaacag
     2281 tcttcgtcct tttaaaaaaa aaaaaaaa
//
