LOCUS       NM_199236               2842 bp    mRNA    linear   ROD 31-MAR-2024
DEFINITION  Rattus norvegicus NHL repeat containing E3 ubiquitin protein ligase
            1 (Nhlrc1), mRNA.
ACCESSION   NM_199236 XM_344577
VERSION     NM_199236.2
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 2842)
  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   2  (bases 1 to 2842)
  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   3  (bases 1 to 2842)
  AUTHORS   DePaoli-Roach,A.A., Contreras,C.J., Segvich,D.M., Heiss,C.,
            Ishihara,M., Azadi,P. and Roach,P.J.
  TITLE     Glycogen phosphomonoester distribution in mouse models of the
            progressive myoclonic epilepsy, Lafora disease
  JOURNAL   J Biol Chem 290 (2), 841-850 (2015)
   PUBMED   25416783
REFERENCE   4  (bases 1 to 2842)
  AUTHORS   Garyali,P., Segvich,D.M., DePaoli-Roach,A.A. and Roach,P.J.
  TITLE     Protein degradation and quality control in cells from laforin and
            malin knockout mice
  JOURNAL   J Biol Chem 289 (30), 20606-20614 (2014)
   PUBMED   24914213
REFERENCE   5  (bases 1 to 2842)
  AUTHORS   Nitschke,F., Wang,P., Schmieder,P., Girard,J.M., Awrey,D.E.,
            Wang,T., Israelian,J., Zhao,X., Turnbull,J., Heydenreich,M.,
            Kleinpeter,E., Steup,M. and Minassian,B.A.
  TITLE     Hyperphosphorylation of glucosyl C6 carbons and altered structure
            of glycogen in the neurodegenerative epilepsy Lafora disease
  JOURNAL   Cell Metab 17 (5), 756-767 (2013)
   PUBMED   23663739
REFERENCE   6  (bases 1 to 2842)
  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    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2842)
  AUTHORS   Worby,C.A., Gentry,M.S. and Dixon,J.E.
  TITLE     Malin decreases glycogen accumulation by promoting the degradation
            of protein targeting to glycogen (PTG)
  JOURNAL   J Biol Chem 283 (7), 4069-4076 (2008)
   PUBMED   18070875
REFERENCE   8  (bases 1 to 2842)
  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 2842)
  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 2842)
  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
            JAXUCZ010000017.1.
            
            On Sep 30, 2022 this sequence version replaced NM_199236.1.
            
            ##Evidence-Data-START##
            Transcript is intronless :: BK001524.1, SRR26643292.57378.1
                                        [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2842              JAXUCZ010000017.1  17880570-17883411
FEATURES             Location/Qualifiers
     source          1..2842
                     /organism="Rattus norvegicus"
                     /mol_type="mRNA"
                     /strain="BN"
                     /db_xref="taxon:10116"
                     /chromosome="17"
                     /map="17p14"
     gene            1..2842
                     /gene="Nhlrc1"
                     /gene_synonym="Epm2b"
                     /note="NHL repeat containing E3 ubiquitin protein ligase
                     1"
                     /db_xref="GeneID:364682"
                     /db_xref="RGD:735081"
     exon            1..2842
                     /gene="Nhlrc1"
                     /gene_synonym="Epm2b"
                     /inference="alignment:Splign:2.1.0"
     CDS             73..1263
                     /gene="Nhlrc1"
                     /gene_synonym="Epm2b"
                     /EC_number="2.3.2.27"
                     /note="NHL repeat-containing protein 1; malin; NHL repeat
                     containing 1; RING-type E3 ubiquitin transferase NHLRC1"
                     /codon_start=1
                     /product="E3 ubiquitin-protein ligase NHLRC1"
                     /protein_id="NP_954706.1"
                     /db_xref="GeneID:364682"
                     /db_xref="RGD:735081"
                     /translation="MGEEAAGVRPELVREAEVSLLECKVCFERFGHRQQRRPRNLPCG
                     HVVCLACVAALAHPRTLALECPFCRRACRACDTSDCLPVLHLLELLGSTLHASPAALS
                     AASCAPGALTCYHAFGGWGTLVNPTGLALCPKTGRVVVVHDGKRRVKIFDSGGGGAHQ
                     FGEKGDAAHDVKYPLDVAVTNDCHVVVTDAGDCSLKVFDFFGQIKLVVGKQFSLPWGV
                     EITPHNGVLVTDAEAGTLHLLEADFPEGVLRRIERLQAHLCNPRGVAVSWLTGAIAVL
                     EHPCALGTSSGNNTRVKVFNSSMQLIGQVDSFGLNLLFPSKITASAVTFDHQGNVIVA
                     DTSGPAIVCLGKPEEFPALKPMVTHGLSRPVALVFTKENSLLVLDSASHSIKVFKVME
                     GNGG"
ORIGIN      
        1 agagcgcatg ccccgccccg tgaccgtggc cgtgaccgag ggctgcgccg gggctgcggc
       61 gcggcgggag cgatggggga ggaggcagcg ggggtgcggc ccgagctggt gcgcgaggcg
      121 gaggtcagcc tgctggagtg caaggtgtgc ttcgagaggt tcggccaccg gcagcagcgg
      181 cgcccgcgca acctgccctg cggccacgtg gtctgcttgg cctgcgtcgc cgccctcgcg
      241 cacccgcgga cgctggccct cgagtgtccc ttctgccggc gggcctgccg agcttgtgac
      301 accagcgatt gcctgccggt gctgcacctt ctggagctcc tgggctccac cctccacgcg
      361 tccccggctg ccctcagcgc cgcctcctgt gcgcccgggg ctctcacctg ctaccatgcc
      421 tttggcgggt gggggaccct agtgaacccc acggggcttg cactgtgccc caagaccgga
      481 cgggtagtag tcgtgcacga cggtaagaga cgggtcaaga tcttcgattc cggaggagga
      541 ggtgcacacc agtttggaga gaagggggac gcagcgcatg acgtgaagta cccactggat
      601 gtcgcggtca ccaacgactg ccatgtggtt gtcaccgacg ccggcgactg ctccctcaaa
      661 gtgtttgatt tctttggcca gatcaagctg gttgtgggaa agcagttttc cctgccttgg
      721 ggtgtagaga taacccctca caacggggtc ctggtgactg acgcagaggc agggactttg
      781 cacctgctgg aagcggattt ccctgaaggg gtccttcgga gaattgagag gttgcaagct
      841 cacctgtgta atccccgtgg ggtggcagtg tcatggctca ccggggccat cgcggtccta
      901 gagcatcctt gtgccttggg gacgtcaagc ggtaacaaca caagggtgaa ggtgttcaac
      961 tccagtatgc agctgattgg ccaggtggac agcttcggac tgaacctcct cttcccctcc
     1021 aaaataaccg cctcagctgt gaccttcgat caccaaggaa acgtgattgt tgctgatacc
     1081 tctgggccag ccatcgtatg cttggggaaa cctgaggaat ttccagccct gaagcctatg
     1141 gttactcatg gcctttcccg tcctgtggca ctggtcttca ccaaggagaa ttctcttctt
     1201 gtgctggatt ctgcatccca ttctataaaa gtctttaaag tgatggaggg taatggaggg
     1261 tgatggggat cccgaagcgt gcagtcaaat cttggtgtcg ttgggagtgt cactcatcca
     1321 tccagatggg gatgatggta actgcctggc gaaagtggtt attaaggcag ttagtaagga
     1381 ctaataatta aacttgtcat tcagtgaatg cctattcccg tgttaagaag tttgcaaatc
     1441 ttagcccatt tgctccctaa cacacggtga tgtcattcct atcatcagtt catttcagag
     1501 atgagaaaat agacgcagag cattcaatat ggtttcttta gagttgtact aactgggaca
     1561 gttgaattca attctggctc caaaccactt gctcttcaat atgatgccag aggtcaaaga
     1621 aaaaaaccct gtgagctgtg tcttgggtgt gttctcccta caagtcgata actggttaaa
     1681 tgcacaaaga cacaaaagaa aggggtctcc atggagtttt tctttaggag aaaagtgaag
     1741 gtgtctgtca cctttatctg tgacctcctc caaaggcaga gtagatggtt tattaccaat
     1801 tccaagattt gaacaaggaa caaagttgag ctttttccct ataaggtaaa ggctgccagg
     1861 atgatagtgt gtgctactaa gtcttccaac acttggaaag tggaggcagg aagttcagtg
     1921 caatcttacc tagtaagttt gaggctaggc tgggctactg aagtgtgtta tctccctctc
     1981 cttccccctt cccctcctca cattccccca tctccctcct ccctccctcc tccctttcac
     2041 catcctccct ccttctttcc ctctcccctt cccttcctcc tctctcttcc tctctctctc
     2101 ccccttgccc tctccctctc tctctccctg ccccacctct ccttcctcca tgggcactgg
     2161 gaactatccc tcagtgatag ttagagaaaa atctgcagac ctgctgcctg ctagtgtcac
     2221 aggcagatga gaccagcgtt aatcagacgt caccccagca cattgatggc aggagtgatt
     2281 ttatgtgctg tgtggtgaat ctctgccacc tgaagcactc tgtgatgggg gttttctctg
     2341 tgtagtttga aatgtgactc aaacactgta tactcaataa acagtcctcg tccttttaga
     2401 gtgctggaaa cgtaccttga actggagcac agccttgacc aacagaaggg ctcctcggtg
     2461 ctgtaattaa gggaggaata ggatattttt ggtgaagtgc tgatcctggc tacattttta
     2521 tttttttaag caagtgaaga agtctttgag ttcagggctg ttggaatcat atccaataac
     2581 ttatacccct gaagcaactt cagaatgctt tctggggcat gcttttgaaa ggtgagagtt
     2641 tgctttagat aagaactgat gctgtggcct ggagagatgg ctcagcggtt aagagtactg
     2701 atcgctcttc cagaggtact gagttcaaat tccaacaccc acttggtggc tcacaaccat
     2761 ctgtaatggg atctgaggcc ctcttctgaa gacaatgaca gtgtactcat acgtagataa
     2821 ataaatctgt aaaacaaaag aa
//
