LOCUS       NM_001033242            2418 bp    mRNA    linear   ROD 12-MAY-2024
DEFINITION  Mus musculus ceroid-lipofuscinosis, neuronal 5 (Cln5), mRNA.
ACCESSION   NM_001033242 XM_001003197 XM_905923 XM_974555
VERSION     NM_001033242.2
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 2418)
  AUTHORS   Doccini,S., Marchese,M., Morani,F., Gammaldi,N., Mero,S.,
            Pezzini,F., Soliymani,R., Santi,M., Signore,G., Ogi,A.,
            Rocchiccioli,S., Kanninen,K.M., Simonati,A., Lalowski,M.M. and
            Santorelli,F.M.
  TITLE     Lysosomal Proteomics Links Disturbances in Lipid Homeostasis and
            Sphingolipid Metabolism to CLN5 Disease
  JOURNAL   Cells 11 (11), 1840 (2022)
   PUBMED   35681535
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2418)
  AUTHORS   Luebben,A.V., Bender,D., Becker,S., Crowther,L.M., Erven,I.,
            Hofmann,K., Soding,J., Klemp,H., Bellotti,C., Stauble,A., Qiu,T.,
            Kathayat,R.S., Dickinson,B.C., Gartner,J., Sheldrick,G.M.,
            Kratzner,R. and Steinfeld,R.
  TITLE     Cln5 represents a new type of cysteine-based S-depalmitoylase
            linked to neurodegeneration
  JOURNAL   Sci Adv 8 (15), eabj8633 (2022)
   PUBMED   35427157
REFERENCE   3  (bases 1 to 2418)
  AUTHORS   Collin,G.B., Gogna,N., Chang,B., Damkham,N., Pinkney,J., Hyde,L.F.,
            Stone,L., Naggert,J.K., Nishina,P.M. and Krebs,M.P.
  TITLE     Mouse Models of Inherited Retinal Degeneration with Photoreceptor
            Cell Loss
  JOURNAL   Cells 9 (4), 931 (2020)
   PUBMED   32290105
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2418)
  AUTHORS   Singh,Y., Leinonen,H., Fazaludeen,F., Jaronen,M., Guest,D.,
            Buckley,N., Byts,N., Oksa,P., Jalkanen,K., Iqbal,I., Huuskonen,M.,
            Savchenko,E., Keksa-Goldsteine,V., Chew,S., Myllyharju,J.,
            Tanila,H., Ooi,L., Koistinaho,J., Kanninen,K.M. and Malm,T.
  TITLE     Loss of Cln5 leads to altered Gad1 expression and deficits in
            interneuron development in mice
  JOURNAL   Hum Mol Genet 28 (19), 3309-3322 (2019)
   PUBMED   31294445
  REMARK    GeneRIF: Results show that loss of CLN5 triggers alterations in
            development and defects in embryonic interneurons. This may occur
            through increased binding of REST to Gad1. The study presents
            evidence that CLN5 functions as a critical modulator of key
            parameters required for proper neuronal development and maturation,
            and that the neurodegenerative processes of CLN5 disease
            pathophysiology have a neurodevelopmental component.
REFERENCE   5  (bases 1 to 2418)
  AUTHORS   Danyukova,T., Ariunbat,K., Thelen,M., Brocke-Ahmadinejad,N.,
            Mole,S.E. and Storch,S.
  TITLE     Loss of CLN7 results in depletion of soluble lysosomal proteins and
            impaired mTOR reactivation
  JOURNAL   Hum Mol Genet 27 (10), 1711-1722 (2018)
   PUBMED   29514215
  REMARK    GeneRIF: Quantification revealed that the amounts of 12 different
            soluble lysosomal proteins were significantly reduced in Cln7 ko
            MEFs compared with wild-type controls. One of the most
            significantly depleted lysosomal proteins was Cln5 protein that
            underlies another distinct neuronal ceroid lipofuscinosis disorder
REFERENCE   6  (bases 1 to 2418)
  AUTHORS   von Schantz,C., Saharinen,J., Kopra,O., Cooper,J.D., Gentile,M.,
            Hovatta,I., Peltonen,L. and Jalanko,A.
  TITLE     Brain gene expression profiles of Cln1 and Cln5 deficient mice
            unravels common molecular pathways underlying neuronal degeneration
            in NCL diseases
  JOURNAL   BMC Genomics 9, 146 (2008)
   PUBMED   18371231
  REMARK    GeneRIF: because the role of the functionally uncharacterized Cln5
            protein remains unclear these studies may offer clues to the
            unraveling of its possible function(s)
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2418)
  AUTHORS   Cho,S.K., Gao,N., Pearce,D.A., Lehrman,M.A. and Hofmann,S.L.
  TITLE     Characterization of lipid-linked oligosaccharide accumulation in
            mouse models of Batten disease
  JOURNAL   Glycobiology 15 (6), 637-648 (2005)
   PUBMED   15647513
REFERENCE   8  (bases 1 to 2418)
  AUTHORS   Kopra,O., Vesa,J., von Schantz,C., Manninen,T., Minye,H.,
            Fabritius,A.L., Rapola,J., van Diggelen,O.P., Saarela,J.,
            Jalanko,A. and Peltonen,L.
  TITLE     A mouse model for Finnish variant late infantile neuronal ceroid
            lipofuscinosis, CLN5, reveals neuropathology associated with early
            aging
  JOURNAL   Hum Mol Genet 13 (23), 2893-2906 (2004)
   PUBMED   15459177
REFERENCE   9  (bases 1 to 2418)
  AUTHORS   Holmberg,V., Jalanko,A., Isosomppi,J., Fabritius,A.L., Peltonen,L.
            and Kopra,O.
  TITLE     The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene
            encodes a soluble lysosomal glycoprotein expressed in the
            developing brain
  JOURNAL   Neurobiol Dis 16 (1), 29-40 (2004)
   PUBMED   15207259
  REMARK    GeneRIF: Mouse Cln5 is a soluble lysosomal glycoprotein expressed
            throughout embryonic brain, increasing during development;
            prominent expression is observed in cerebellar Purkinje cells,
            cerebral neurons, hippocampal pyramidal cells, and hippocampal
            interneurons.
REFERENCE   10 (bases 1 to 2418)
  AUTHORS   Peterson,K.A., King,B.L., Hagge-Greenberg,A., Roix,J.J., Bult,C.J.
            and O'Brien,T.P.
  TITLE     Functional and comparative genomic analysis of the piebald deletion
            region of mouse chromosome 14
  JOURNAL   Genomics 80 (2), 172-184 (2002)
   PUBMED   12160731
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC102815.31.
            
            On Jan 25, 2023 this sequence version replaced NM_001033242.1.
            
            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 :: BC025487.1, AK085741.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-225               AC102815.31        121057-121281
            226-391             AC102815.31        122448-122613
            392-617             AC102815.31        124001-124226
            618-2418            AC102815.31        126642-128442
FEATURES             Location/Qualifiers
     source          1..2418
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="14"
                     /map="14 51.71 cM"
     gene            1..2418
                     /gene="Cln5"
                     /gene_synonym="A730075N08Rik"
                     /note="ceroid-lipofuscinosis, neuronal 5"
                     /db_xref="GeneID:211286"
                     /db_xref="MGI:MGI:2442253"
     exon            1..225
                     /gene="Cln5"
                     /gene_synonym="A730075N08Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            226..391
                     /gene="Cln5"
                     /gene_synonym="A730075N08Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            392..617
                     /gene="Cln5"
                     /gene_synonym="A730075N08Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            618..2418
                     /gene="Cln5"
                     /gene_synonym="A730075N08Rik"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2397..2402
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Cln5"
                     /gene_synonym="A730075N08Rik"
                     /note="hexamer: AATAAA"
     polyA_site      2418
                     /gene="Cln5"
                     /gene_synonym="A730075N08Rik"
                     /note="major polyA site"
ORIGIN      
        1 acacggccaa gccggcgctg gtgcttggct ggctcctcgc ggcggcgcgc acgcaaggcc
       61 gacgccgggg ccccggagcc tccgggatct cagggagccg cggatgctgc gcggggggcc
      121 atgtggagcg cactggcgcc cggcgctcgc gctggcgctg ctcgggctgg cgacgattct
      181 gggcgcgtcc ccgacgtctg ggcaacgctg gccggtgccc tacaagcgct tctctttccg
      241 tccgaagaca gatccctact gtcaagctaa gtatactttc tgtcctaccg gctcgcccat
      301 cccagttatg aaggacaatg acgtcatcga ggtcttacga ctacaagccc cgatttggga
      361 atttaaatat ggagacctcc tgggacactt taaacttatg catgacgccg tgggattcag
      421 gagcacactg acaggcaaga actacacaat tgagtggtat gaacttttcc agctgggcaa
      481 ctgtacattt ccccacctcc ggcctgacaa gagcgctccc ttctggtgta accaaggggc
      541 agcctgcttt tttgaaggaa tagatgataa acactggaag gaaaacggga cactgtcagt
      601 cgttgcaacc atatccggaa acacatttaa caaagtggcc gagtgggtga agcaggacaa
      661 tgaaactggg atttattatg agacatggac ggtccgagcc ggcccaggac aaggggccca
      721 gacgtggttc gagtcctacg actgttcgaa ttttgtctta aggacatata agaaattggc
      781 tgaatttgga acagaattca agaagataga aacaaactat acgaaaatat ttctttacag
      841 tggagagcct atttacctgg gaaatgaaac atctattttt gggcccaaag gaaacaagac
      901 tcttgctttg gccataaaaa aattttatgg ccccttcaga ccgtatttgt caaccaaaga
      961 ttttctgatg aatttcttga aaatttttga tacagtgatt atacacagac agttctactt
     1021 gttttataac tttgagtatt ggtttctacc aatgaaaccc ccctttgtca aaataacata
     1081 cgaagaaacc ccgttaccta cccgacatac aacatttacc gacttgtgac aacttccact
     1141 ctgctgctct ccagacagca gcatccatgt tcttccaggg ctgtgtctac agtggtgtct
     1201 ttattcacct tccctccctg gggctcactg ttggaagtgc agtatctgga catttcaaga
     1261 ctcttgcaga gtagcagaaa ccgtaattgt actggccaaa gtgaatgggt tgtaatcgtt
     1321 atttgagaat tactccatct cagctatgga gagcctttga tcccaaggta gcatttttct
     1381 cgggctactt tttctgttac agtagtgctg tttcgtagtt taagggtttt tttttggggg
     1441 gggggtcatc taaagaattg ctgtttttat agttattacc gccttaggtt ccaggtctat
     1501 tttctattca caaggtttta aaaccttgtt tggactctgt tactggaata gtgcctctag
     1561 ccatggcaaa tacagaaaaa tttttggcta gctggctgtt gtgacagaag caatttaaca
     1621 tctctagatt tatgtcctta cctctaaagt gattcatcta ccaggagtat gtagattggg
     1681 ggcacctatg taggcacagg aaggcacacg gagtgcatat acggtgtcca ctgggactaa
     1741 aagaacacaa actgccatcc ttgaatttgc ctgacgtacg tacaggccat ccattcctgg
     1801 gtaattgctg agactttgag ctggcacagt acacattgct tctttagtac aggccatgga
     1861 agcttctggc tccagacatg gctaggtgaa gtgtccttct gacttcctgt gcatgtcctc
     1921 tggtttctct cccaccatca tcagagagag cacactttcc tggaaaggac agaagtttgt
     1981 caagggcctt tgttagcttg ctatgttgct tttaggggca ttagacaggc tatcaagctc
     2041 ctgtattttg atcagttgaa ctcattttgt tttcctatct aacactagca taataatgga
     2101 aaagtctttt aatatagaaa catgccagtt attaatttcc taatttacta atagctggct
     2161 gcttcttgag acatcagtac actactgtgt cttaagaagt ctcatctacg tatctgctgg
     2221 cccagatgtc agggcttagc aagataaagt gacctggaat taggttctca ctcaggatac
     2281 actggaggct ttccagcact cttcagattg tggcctttag accggtatct gtgcaccaaa
     2341 tgttaccagt ctgtgttatt gttcagtcta ataaaaaaca taaacaaaac aaaaaaaata
     2401 aactcaagaa aaaaacca
//
