LOCUS       NM_000310               2284 bp    mRNA    linear   PRI 01-OCT-2024
DEFINITION  Homo sapiens palmitoyl-protein thioesterase 1 (PPT1), transcript
            variant 1, mRNA.
ACCESSION   NM_000310
VERSION     NM_000310.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2284)
  AUTHORS   Luo,Q., Hu,S., Tang,Y., Yang,D. and Chen,Q.
  TITLE     PPT1 Promotes Growth and Inhibits Ferroptosis of Oral Squamous Cell
            Carcinoma Cells
  JOURNAL   Curr Cancer Drug Targets 24 (10), 1047-1060 (2024)
   PUBMED   38299399
  REMARK    GeneRIF: PPT1 Promotes Growth and Inhibits Ferroptosis of Oral
            Squamous Cell Carcinoma Cells.
REFERENCE   2  (bases 1 to 2284)
  AUTHORS   Tian,W., Li,C., Ren,J., Li,P., Zhao,J., Li,S. and Dong,D.
  TITLE     Identification of PPT1 as a lysosomal core gene with prognostic
            value in hepatocellular carcinoma
  JOURNAL   Biosci Rep 43 (5) (2023)
   PUBMED   37103469
  REMARK    GeneRIF: Identification of PPT1 as a lysosomal core gene with
            prognostic value in hepatocellular carcinoma.
REFERENCE   3  (bases 1 to 2284)
  AUTHORS   Thirumal Kumar,D., Shaikh,N., Udhaya Kumar,S. and George Priya
            Doss,C.
  TITLE     Computational and structural investigation of Palmitoyl-Protein
            Thioesterase 1 (PPT1) protein causing Neuronal Ceroid
            Lipofuscinoses (NCL)
  JOURNAL   Adv Protein Chem Struct Biol 132, 89-109 (2022)
   PUBMED   36088080
  REMARK    GeneRIF: Computational and structural investigation of
            Palmitoyl-Protein Thioesterase 1 (PPT1) protein causing Neuronal
            Ceroid Lipofuscinoses (NCL).
REFERENCE   4  (bases 1 to 2284)
  AUTHORS   Balouch,B., Nagorsky,H., Pham,T., LaGraff,J.T. and Chu-LaGraff,Q.
  TITLE     Human INCL fibroblasts display abnormal mitochondrial and lysosomal
            networks and heightened susceptibility to ROS-induced cell death
  JOURNAL   PLoS One 16 (2), e0239689 (2021)
   PUBMED   33561134
  REMARK    GeneRIF: Human INCL fibroblasts display abnormal mitochondrial and
            lysosomal networks and heightened susceptibility to ROS-induced
            cell death.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2284)
  AUTHORS   Crews,C.M., Lane,W.S. and Schreiber,S.L.
  TITLE     Didemnin binds to the protein palmitoyl thioesterase responsible
            for infantile neuronal ceroid lipofuscinosis
  JOURNAL   Proc Natl Acad Sci U S A 93 (9), 4316-4319 (1996)
   PUBMED   8633062
REFERENCE   6  (bases 1 to 2284)
  AUTHORS   Vesa,J., Hellsten,E., Verkruyse,L.A., Camp,L.A., Rapola,J.,
            Santavuori,P., Hofmann,S.L. and Peltonen,L.
  TITLE     Mutations in the palmitoyl protein thioesterase gene causing
            infantile neuronal ceroid lipofuscinosis
  JOURNAL   Nature 376 (6541), 584-587 (1995)
   PUBMED   7637805
REFERENCE   7  (bases 1 to 2284)
  AUTHORS   Camp,L.A., Verkruyse,L.A., Afendis,S.J., Slaughter,C.A. and
            Hofmann,S.L.
  TITLE     Molecular cloning and expression of palmitoyl-protein thioesterase
  JOURNAL   J Biol Chem 269 (37), 23212-23219 (1994)
   PUBMED   7916016
REFERENCE   8  (bases 1 to 2284)
  AUTHORS   Hellsten,E., Vesa,J., Speer,M.C., Makela,T.P., Jarvela,I.,
            Alitalo,K., Ott,J. and Peltonen,L.
  TITLE     Refined assignment of the infantile neuronal ceroid lipofuscinosis
            (INCL, CLN1) locus at 1p32: incorporation of linkage disequilibrium
            in multipoint analysis
  JOURNAL   Genomics 16 (3), 720-725 (1993)
   PUBMED   8325646
REFERENCE   9  (bases 1 to 2284)
  AUTHORS   Mole,S.E. and Williams,R.E.
  TITLE     Neuronal Ceroid-Lipofuscinoses - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH,
            Gripp KW and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301601
REFERENCE   10 (bases 1 to 2284)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH,
            Gripp KW and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA504318.1, BC008426.1 and
            AL512599.33.
            
            On Nov 21, 2019 this sequence version replaced NM_000310.3.
            
            Summary: The protein encoded by this gene is a small glycoprotein
            involved in the catabolism of lipid-modified proteins during
            lysosomal degradation. The encoded enzyme removes thioester-linked
            fatty acyl groups such as palmitate from cysteine residues. Defects
            in this gene are a cause of infantile neuronal ceroid
            lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis
            4 (CLN4). Two transcript variants encoding different isoforms have
            been found for this gene.[provided by RefSeq, Dec 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript 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 :: BC008426.1, U44772.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142670, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000642050.2/ ENSP00000493153.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 DA504318.1         219-220
            3-1502              BC008426.1         1-1500
            1503-2284           AL512599.33        35702-36483         c
FEATURES             Location/Qualifiers
     source          1..2284
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.2"
     gene            1..2284
                     /gene="PPT1"
                     /gene_synonym="CLN1; INCL; PPT"
                     /note="palmitoyl-protein thioesterase 1"
                     /db_xref="GeneID:5538"
                     /db_xref="HGNC:HGNC:9325"
                     /db_xref="MIM:600722"
     exon            1..138
                     /gene="PPT1"
                     /gene_synonym="CLN1; INCL; PPT"
                     /inference="alignment:Splign:2.1.0"
     CDS             15..935
                     /gene="PPT1"
                     /gene_synonym="CLN1; INCL; PPT"
                     /EC_number="3.1.2.22"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; ceroid-palmitoyl-palmitoyl-protein thioesterase
                     1; palmitoyl-protein hydrolase 1"
                     /codon_start=1
                     /product="palmitoyl-protein thioesterase 1 isoform 1
                     precursor"
                     /protein_id="NP_000301.1"
                     /db_xref="CCDS:CCDS447.1"
                     /db_xref="GeneID:5538"
                     /db_xref="HGNC:HGNC:9325"
                     /db_xref="MIM:600722"
                     /translation="MASPGCLWLLAVALLPWTCASRALQHLDPPAPLPLVIWHGMGDS
                     CCNPLSMGAIKKMVEKKIPGIYVLSLEIGKTLMEDVENSFFLNVNSQVTTVCQALAKD
                     PKLQQGYNAMGFSQGGQFLRAVAQRCPSPPMINLISVGGQHQGVFGLPRCPGESSHIC
                     DFIRKTLNAGAYSKVVQERLVQAEYWHDPIKEDVYRNHSIFLADINQERGINESYKKN
                     LMALKKFVMVKFLNDSIVDPVDSEWFGFYRSGQAKETIPLQETSLYTQDRLGLKEMDN
                     AGQLVFLATEGDHLQLSEEWFYAHIIPFLG"
     exon            139..248
                     /gene="PPT1"
                     /gene_synonym="CLN1; INCL; PPT"
                     /inference="alignment:Splign:2.1.0"
     exon            249..376
                     /gene="PPT1"
                     /gene_synonym="CLN1; INCL; PPT"
                     /inference="alignment:Splign:2.1.0"
     exon            377..447
                     /gene="PPT1"
                     /gene_synonym="CLN1; INCL; PPT"
                     /inference="alignment:Splign:2.1.0"
     exon            448..550
                     /gene="PPT1"
                     /gene_synonym="CLN1; INCL; PPT"
                     /inference="alignment:Splign:2.1.0"
     exon            551..641
                     /gene="PPT1"
                     /gene_synonym="CLN1; INCL; PPT"
                     /inference="alignment:Splign:2.1.0"
     exon            642..740
                     /gene="PPT1"
                     /gene_synonym="CLN1; INCL; PPT"
                     /inference="alignment:Splign:2.1.0"
     exon            741..812
                     /gene="PPT1"
                     /gene_synonym="CLN1; INCL; PPT"
                     /inference="alignment:Splign:2.1.0"
     exon            813..2284
                     /gene="PPT1"
                     /gene_synonym="CLN1; INCL; PPT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2266..2271
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PPT1"
                     /gene_synonym="CLN1; INCL; PPT"
                     /note="hexamer: AATAAA"
     polyA_site      2284
                     /gene="PPT1"
                     /gene_synonym="CLN1; INCL; PPT"
                     /note="major polyA site"
ORIGIN      
        1 gtgacacagc gaagatggcg tcgcccggct gcctgtggct cttggctgtg gctctcctgc
       61 catggacctg cgcttctcgg gcgctgcagc atctggaccc gccggcgccg ctgccgttgg
      121 tgatctggca tgggatggga gacagctgtt gcaatccctt aagcatgggt gctattaaaa
      181 aaatggtgga gaagaaaata cctggaattt acgtcttatc tttagagatt gggaagaccc
      241 tgatggagga cgtggagaac agcttcttct tgaatgtcaa ttcccaagta acaacagtgt
      301 gtcaggcact tgctaaggat cctaaattgc agcaaggcta caatgctatg ggattctccc
      361 agggaggcca atttctgagg gcagtggctc agagatgccc ttcacctccc atgatcaatc
      421 tgatctcggt tgggggacaa catcaaggtg tttttggact ccctcgatgc ccaggagaga
      481 gctctcacat ctgtgacttc atccgaaaaa cactgaatgc tggggcgtac tccaaagttg
      541 ttcaggaacg cctcgtgcaa gccgaatact ggcatgaccc cataaaggag gatgtgtatc
      601 gcaaccacag catcttcttg gcagatataa atcaggagcg gggtatcaat gagtcctaca
      661 agaaaaacct gatggccctg aagaagtttg tgatggtgaa attcctcaat gattccattg
      721 tggaccctgt agattcggag tggtttggat tttacagaag tggccaagcc aaggaaacca
      781 ttcccttaca ggagacctcc ctgtacacac aggaccgcct ggggctaaag gaaatggaca
      841 atgcaggaca gctagtgttt ctggctacag aaggggacca tcttcagttg tctgaagaat
      901 ggttttatgc ccacatcata ccattccttg gatgaaaccc gtatagttca caatagagct
      961 cagggagccc ctaactcttc caaaccacat gggagacagt ttccttcatg cccaagcctg
     1021 agctcagatc cagcttgcaa ctaatccttc tatcatctaa catgccctac ttggaaagat
     1081 ctaagatctg aatcttatcc tttgccatct tctgttacca tatggtgttg aatgcaagtt
     1141 taattaccat ggagattgtt ttacaaactt ttgatgtggt caagttcagt tttagaaaag
     1201 ggagtctgtt ccagatcagt gccagaactg tgcccaggcc caaaggagac aactaactaa
     1261 agtagtgaga tagattctaa gggcaaacat ttttccaagt cttgccatat ttcaagcaaa
     1321 gaggtgccca ggcctgaggt actcacataa atgctttgtt ttgctggtga tttaaccagt
     1381 gcttggaaaa atcttgcttg gctatttctg catcatttct taaggctgcc ttcctctctc
     1441 agtacgttgc cctctgtgct atcatcttat catcaattat tagacaaatc ccactggcct
     1501 acagtcttgc ttctgcagca cccactttgt ctcctcaggt agtgatgaat tagttgctgt
     1561 cacaaaagga gggaagtagc acccaaatta agttgcttaa gagaggaaat gtacatcttg
     1621 tataacttag ggagcgaaga aaatgtaggc gcgaaagtga aaagtgaggc agctagttct
     1681 tcctattcca ttctcgacca acctgccctt tcttaatatg actagtggtc ttgatgctag
     1741 agtcaactta ctctgttgct ggctttagca gagaatagga ggaaccatat gaaaaagatc
     1801 aggctttctg acttccatcc ccaaaacaca tttaccagca tactccaaac tgtttctgat
     1861 gtgttccatg agaaaaggat tgtttgctca aaaagcttgg aaaatactac acactccctt
     1921 tctccttctg gagatcaacc cacattagag tgtctaagga ctcctgagaa ttcctgttac
     1981 agtaaacaaa actaacgtaa tctaccattt cctacactat ttgagcatgg aaatcatagt
     2041 ccccactctg tgaaaactta acgctttttg gaagacattt ctgtagcatg tcagtttgga
     2101 gaaatgatga gctacgcctt gatgaaagaa ccgtgttggt gctgctaagt ttagccatta
     2161 tggtttttcc tttctctctc ttaagcctta ttcttcaact aaaagatgag gattaagagc
     2221 aagaagttgg gggggatgtg aaaataattt tatgaggttg tctaaaataa agagtagttt
     2281 ctta
//
