LOCUS       NM_008917               2493 bp    mRNA    linear   ROD 17-JUL-2024
DEFINITION  Mus musculus palmitoyl-protein thioesterase 1 (Ppt1), mRNA.
ACCESSION   NM_008917
VERSION     NM_008917.3
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 2493)
  AUTHORS   Bagh,M.B., Appu,A.P., Sadhukhan,T., Mondal,A., Plavelil,N.,
            Raghavankutty,M., Supran,A.M., Sadhukhan,S., Liu,A. and
            Mukherjee,A.B.
  TITLE     Disruption of lysosomal nutrient sensing scaffold contributes to
            pathogenesis of a fatal neurodegenerative lysosomal storage disease
  JOURNAL   J Biol Chem 300 (2), 105641 (2024)
   PUBMED   38211816
REFERENCE   2  (bases 1 to 2493)
  AUTHORS   Ni,H., Wang,Y., Yao,K., Wang,L., Huang,J., Xiao,Y., Chen,H.,
            Liu,B., Yang,C.Y. and Zhao,J.
  TITLE     Cyclical palmitoylation regulates TLR9 signalling and systemic
            autoimmunity in mice
  JOURNAL   Nat Commun 15 (1), 1 (2024)
   PUBMED   38169466
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2493)
  AUTHORS   Peviani,M., Das,S., Patel,J., Jno-Charles,O., Kumar,R., Zguro,A.,
            Mathews,T.D., Cabras,P., Milazzo,R., Cavalca,E., Poletti,V. and
            Biffi,A.
  TITLE     An innovative hematopoietic stem cell gene therapy approach
            benefits CLN1 disease in the mouse model
  JOURNAL   EMBO Mol Med 15 (4), e15968 (2023)
   PUBMED   36876653
REFERENCE   4  (bases 1 to 2493)
  AUTHORS   Dearborn,J.T., Nelvagal,H.R., Rensing,N.R., Takahashi,K.,
            Hughes,S.M., Wishart,T.M., Cooper,J.D., Wong,M. and Sands,M.S.
  TITLE     Effects of chronic cannabidiol in a mouse model of naturally
            occurring neuroinflammation, neurodegeneration, and spontaneous
            seizures
  JOURNAL   Sci Rep 12 (1), 11286 (2022)
   PUBMED   35789177
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2493)
  AUTHORS   Zhang,X., Wang,M., Feng,B., Zhang,Q., Tong,J., Wang,M., Lu,C. and
            Peng,S.
  TITLE     Seizures in PPT1 Knock-In Mice Are Associated with Inflammatory
            Activation of Microglia
  JOURNAL   Int J Mol Sci 23 (10), 5586 (2022)
   PUBMED   35628400
  REMARK    GeneRIF: Seizures in PPT1 Knock-In Mice Are Associated with
            Inflammatory Activation of Microglia.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2493)
  AUTHORS   Fehr,C., Shirley,R.L., Belknap,J.K., Crabbe,J.C. and Buck,K.J.
  TITLE     Congenic mapping of alcohol and pentobarbital withdrawal liability
            loci to a <1 centimorgan interval of murine chromosome 4:
            identification of Mpdz as a candidate gene
  JOURNAL   J Neurosci 22 (9), 3730-3738 (2002)
   PUBMED   11978849
REFERENCE   7  (bases 1 to 2493)
  AUTHORS   Gupta,P., Soyombo,A.A., Atashband,A., Wisniewski,K.E.,
            Shelton,J.M., Richardson,J.A., Hammer,R.E. and Hofmann,S.L.
  TITLE     Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in
            knockout mice
  JOURNAL   Proc Natl Acad Sci U S A 98 (24), 13566-13571 (2001)
   PUBMED   11717424
REFERENCE   8  (bases 1 to 2493)
  AUTHORS   Isosomppi,J., Heinonen,O., Hiltunen,J.O., Greene,N.D., Vesa,J.,
            Uusitalo,A., Mitchison,H.M., Saarma,M., Jalanko,A. and Peltonen,L.
  TITLE     Developmental expression of palmitoyl protein thioesterase in
            normal mice
  JOURNAL   Brain Res Dev Brain Res 118 (1-2), 1-11 (1999)
   PUBMED   10611498
REFERENCE   9  (bases 1 to 2493)
  AUTHORS   Zhang,Z., Mandal,A.K., Wang,N., Keck,C.L., Zimonjic,D.B.,
            Popescu,N.C. and Mukherjee,A.B.
  TITLE     Palmitoyl-protein thioesterase gene expression in the developing
            mouse brain and retina: implications for early loss of vision in
            infantile neuronal ceroid lipofuscinosis
  JOURNAL   Gene 231 (1-2), 203-211 (1999)
   PUBMED   10231585
REFERENCE   10 (bases 1 to 2493)
  AUTHORS   Salonen,T., Hellsten,E., Horelli-Kuitunen,N., Peltonen,L. and
            Jalanko,A.
  TITLE     Mouse palmitoyl protein thioesterase: gene structure and expression
            of cDNA
  JOURNAL   Genome Res 8 (7), 724-730 (1998)
   PUBMED   9685319
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CB600397.1, AK151107.1 and AK169579.1.
            
            On Dec 10, 2010 this sequence version replaced NM_008917.2.
            
            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 :: AK014561.1, AK152940.1 [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
            1-15                CB600397.1         4-18
            16-827              AK151107.1         2-813
            828-2493            AK169579.1         903-2568
FEATURES             Location/Qualifiers
     source          1..2493
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="4"
                     /map="4 57.27 cM"
     gene            1..2493
                     /gene="Ppt1"
                     /gene_synonym="9530043G02Rik; CLN1; D4Ertd184e; INCL; PPT"
                     /note="palmitoyl-protein thioesterase 1"
                     /db_xref="GeneID:19063"
                     /db_xref="MGI:MGI:1298204"
     exon            1..153
                     /gene="Ppt1"
                     /gene_synonym="9530043G02Rik; CLN1; D4Ertd184e; INCL; PPT"
                     /inference="alignment:Splign:2.1.0"
     exon            154..263
                     /gene="Ppt1"
                     /gene_synonym="9530043G02Rik; CLN1; D4Ertd184e; INCL; PPT"
                     /inference="alignment:Splign:2.1.0"
     exon            264..391
                     /gene="Ppt1"
                     /gene_synonym="9530043G02Rik; CLN1; D4Ertd184e; INCL; PPT"
                     /inference="alignment:Splign:2.1.0"
     exon            392..462
                     /gene="Ppt1"
                     /gene_synonym="9530043G02Rik; CLN1; D4Ertd184e; INCL; PPT"
                     /inference="alignment:Splign:2.1.0"
     exon            463..565
                     /gene="Ppt1"
                     /gene_synonym="9530043G02Rik; CLN1; D4Ertd184e; INCL; PPT"
                     /inference="alignment:Splign:2.1.0"
     exon            566..656
                     /gene="Ppt1"
                     /gene_synonym="9530043G02Rik; CLN1; D4Ertd184e; INCL; PPT"
                     /inference="alignment:Splign:2.1.0"
     exon            657..755
                     /gene="Ppt1"
                     /gene_synonym="9530043G02Rik; CLN1; D4Ertd184e; INCL; PPT"
                     /inference="alignment:Splign:2.1.0"
     exon            756..827
                     /gene="Ppt1"
                     /gene_synonym="9530043G02Rik; CLN1; D4Ertd184e; INCL; PPT"
                     /inference="alignment:Splign:2.1.0"
     exon            828..2493
                     /gene="Ppt1"
                     /gene_synonym="9530043G02Rik; CLN1; D4Ertd184e; INCL; PPT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1717..1722
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Ppt1"
                     /gene_synonym="9530043G02Rik; CLN1; D4Ertd184e; INCL; PPT"
                     /note="hexamer: ATTAAA"
     polyA_site      1738
                     /gene="Ppt1"
                     /gene_synonym="9530043G02Rik; CLN1; D4Ertd184e; INCL; PPT"
                     /note="major polyA site"
     regulatory      2291..2296
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Ppt1"
                     /gene_synonym="9530043G02Rik; CLN1; D4Ertd184e; INCL; PPT"
                     /note="hexamer: AATAAA"
     polyA_site      2309
                     /gene="Ppt1"
                     /gene_synonym="9530043G02Rik; CLN1; D4Ertd184e; INCL; PPT"
                     /note="major polyA site"
     regulatory      2371..2376
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Ppt1"
                     /gene_synonym="9530043G02Rik; CLN1; D4Ertd184e; INCL; PPT"
                     /note="hexamer: AACAAG"
     polyA_site      2392
                     /gene="Ppt1"
                     /gene_synonym="9530043G02Rik; CLN1; D4Ertd184e; INCL; PPT"
     regulatory      2419..2424
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Ppt1"
                     /gene_synonym="9530043G02Rik; CLN1; D4Ertd184e; INCL; PPT"
                     /note="hexamer: CATAAA"
     polyA_site      2450
                     /gene="Ppt1"
                     /gene_synonym="9530043G02Rik; CLN1; D4Ertd184e; INCL; PPT"
ORIGIN      
        1 acagtccccg cggtcatgtg attgctaaga tggcgtcgtc ctgttcgcgg aggctgctag
       61 ctgccgctct gctgccttgg tgctgcgccg cctgggccct ggggcatctg gacccacctt
      121 caccaccacc gctggtgatc tggcatggga tgggggacag ctgttgtaac cccatgagca
      181 tgggtgtcat taaaaagatg gttgaaaaag aaatacctgg gatttacgtc ctgtctctag
      241 agattgggaa gaacatgatg gaggatgtgg agaacagctt cttcttgaat gttaatgtcc
      301 aagtcaacat ggtgtgtcag attctggaaa aggatcctaa gttgcagcag ggatacaatg
      361 ctattggctt ctcccaggga ggccagttcc tgagggcagt ggctcagaga tgcccaacac
      421 ctcccatgat gaccctgatc tcagttggag gacaacatca aggtgtcttt ggactccccc
      481 gatgcccagg agagagttct cacatctgcg acttcatcag gaagtcactt aatgccggtg
      541 cttactccaa acttgtgcaa gaacgcctgg tgcaagcaca gtactggcat gaccctatca
      601 aggagagtgt gtaccgaaac tacagcatct tcttggcaga cataaatcaa gagaggtgtg
      661 tcaatgagtc ctacaagaag aacctgatgg ccctcaagaa gtttgtgatg gtgaaattct
      721 ttaatgattc cattgtggac cctgtcgact ctgagtggtt tggattttac agaagtggcc
      781 aagctaagga aaccattccc ctccaggaga gcactctata cacagaggac cgcctggggc
      841 taaagaaaat ggacaaagca ggaaagctag tgtttctggc taaggaaggg gaccatcttc
      901 aaatatctaa agaatggttt actgcccaca tcataccttt tcttaagtga agccctggca
      961 ctttatagca gagttcatga aaccacagct cttccaagcc atgtacatag ttcatgctca
     1021 gccctgaact ctaatctagc ctgcaaccag cccttctctc ctcttatcat ctaacatacc
     1081 ctacttggaa agatctaaga tctcaatctt atcctttgcc gcctgctatc accatatggt
     1141 gttggattca agtttaatta gctaataacc atggagattg ttttacaact ttgtgatatg
     1201 gtcaagctcc cgtttaagaa atgggagtct gttgttgcag atcagtaatt gtgcctaaaa
     1261 gagacagaag tgaaaaagag acaagctctg agggcaaaac ccatacaaat ttggagcaaa
     1321 taaaagccca ggtctgagat gttcacacaa gcaatttctc tgcactgctg tgtgggccgt
     1381 gcatgatgtt tccccatcat ttcttaagac tgttttcctg tgtaagtgtt gccctctaga
     1441 ggtacctagc agtcacccca caagcctacc atcacgtccc cttcagagct caccttgtat
     1501 ccttaatcct cagtaacaga attagtcaca caggggggaa ctgccagcag ggttgcttag
     1561 gaaaggaaat ggaccttctc ttctcttctc ttctttgaga cagggtttca ctcactttgt
     1621 aaccctagct ggcctggaat tcactatgta gagcagactg gtcttgaact cacagtcaca
     1681 gagatcacct gccccctctg cctttcaagt acagggatta aaggcatgca tcaccacagc
     1741 ctacagcaat gtgtgtctta tatactatga gatagtgagg gagtatagaa gtgaaaacca
     1801 ggtgtctgtt cttgccctta atattataag tggcataaat gtcacaccat tgcaaagaac
     1861 gggagaaata gtctaaaaag gtggggcttt ggcattccta ccctacatcc tatttaccag
     1921 catacatcaa actgctgctg atttgattcc tcaagaaaat gattggggaa tattgtagac
     1981 ttcttttccc tcctattaaa cagatgataa ctttgattgt taaagaagaa accaccctga
     2041 tcccccattt cctacagttg agcatggact ccctagtgcc catgctgaga tctcagcatg
     2101 ttctagatgg gtcctctaga gcacgggttt ggagaaatga ctgttttcat gaaagcacca
     2161 ttagcaccac agaattcacc cactgcctgt ttttcctttt cctttctcaa acctactcaa
     2221 ataaaaggat gagggttaag ggcaggaagt gggaggatct aaaaatagtt ttgagattgt
     2281 ctttaaaaat aataaagagt agtttcttat acttggtatc attttcagta ttttcacatc
     2341 tctgtactga aaacatcagg tgaataacta aacaagtttg gtattaactt tattctattt
     2401 tctgtataat tttaagtaca taaaggttta tttccacagg cctcaggtaa tgggcagaag
     2461 tcacaggaca atctttcttc ctcttttccc acc
//
