LOCUS       NM_000391               3492 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens tripeptidyl peptidase 1 (TPP1), mRNA.
ACCESSION   NM_000391
VERSION     NM_000391.4
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 3492)
  AUTHORS   Wang,Q.L., Gong,C., Meng,X.Y., Fu,M., Yang,H., Zhou,F., Wu,Q. and
            Zhou,Y.
  TITLE     TPP1 is associated with risk of advanced precursors and cervical
            cancer survival
  JOURNAL   PLoS One 19 (5), e0298118 (2024)
   PUBMED   38722833
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3492)
  AUTHORS   Lourenco,C.M., Sallum,J.M.F., Pereira,A.M., Girotto,P.N., Kok,F.,
            Vilela,D.R.F., Barron,E., Pessoa,A. and Oliveira,B.M.
  TITLE     A needle in a haystack? The impact of a targeted epilepsy gene
            panel in the identification of a treatable but rapidly progressive
            metabolic epilepsy: CLN2 disease
  JOURNAL   Arq Neuropsiquiatr 82 (5), 1-8 (2024)
   PUBMED   38763144
  REMARK    GeneRIF: A needle in a haystack? The impact of a targeted epilepsy
            gene panel in the identification of a treatable but rapidly
            progressive metabolic epilepsy: CLN2 disease.
REFERENCE   3  (bases 1 to 3492)
  AUTHORS   Bertrand,A., Ba,I., Kermasson,L., Pirabakaran,V., Chable,N.,
            Lainey,E., Menard,C., Kallel,F., Picard,C., Hadiji,S.,
            Coolen-Allou,N., Blanchard,E., de Villartay,J.P., Moshous,D.,
            Roelens,M., Callebaut,I., Kannengiesser,C. and Revy,P.
  TITLE     Characterization of novel mutations in the TEL-patch domain of the
            telomeric factor TPP1 associated with telomere biology disorders
  JOURNAL   Hum Mol Genet 33 (7), 612-623 (2024)
   PUBMED   38176734
REFERENCE   4  (bases 1 to 3492)
  AUTHORS   Steigerwald,C., Borsuk,J., Pappas,J., Galey,M., Scott,A.,
            Devaney,J.M., Miller,D.E. and Abreu,N.J.
  TITLE     CLN2 disease resulting from a novel homozygous deep intronic splice
            variant in TPP1 discovered using long-read sequencing
  JOURNAL   Mol Genet Metab 140 (4), 107713 (2023)
   PUBMED   37922835
  REMARK    GeneRIF: CLN2 disease resulting from a novel homozygous deep
            intronic splice variant in TPP1 discovered using long-read
            sequencing.
REFERENCE   5  (bases 1 to 3492)
  AUTHORS   Lin,L., Sohar,I., Lackland,H. and Lobel,P.
  TITLE     The human CLN2 protein/tripeptidyl-peptidase I is a serine protease
            that autoactivates at acidic pH
  JOURNAL   J Biol Chem 276 (3), 2249-2255 (2001)
   PUBMED   11054422
REFERENCE   6  (bases 1 to 3492)
  AUTHORS   Liu,C.G., Sleat,D.E., Donnelly,R.J. and Lobel,P.
  TITLE     Structural organization and sequence of CLN2, the defective gene in
            classical late infantile neuronal ceroid lipofuscinosis
  JOURNAL   Genomics 50 (2), 206-212 (1998)
   PUBMED   9653647
REFERENCE   7  (bases 1 to 3492)
  AUTHORS   Sleat,D.E., Donnelly,R.J., Lackland,H., Liu,C.G., Sohar,I.,
            Pullarkat,R.K. and Lobel,P.
  TITLE     Association of mutations in a lysosomal protein with classical
            late-infantile neuronal ceroid lipofuscinosis
  JOURNAL   Science 277 (5333), 1802-1805 (1997)
   PUBMED   9295267
REFERENCE   8  (bases 1 to 3492)
  AUTHORS   Page,A.E., Fuller,K., Chambers,T.J. and Warburton,M.J.
  TITLE     Purification and characterization of a tripeptidyl peptidase I from
            human osteoclastomas: evidence for its role in bone resorption
  JOURNAL   Arch Biochem Biophys 306 (2), 354-359 (1993)
   PUBMED   8215436
REFERENCE   9  (bases 1 to 3492)
  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 and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301601
REFERENCE   10 (bases 1 to 3492)
  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 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 BP279860.1, BC014863.1,
            AC091564.12 and AI023962.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_000391.3.
            
            Summary: This gene encodes a member of the sedolisin family of
            serine proteases. The protease functions in the lysosome to cleave
            N-terminal tripeptides from substrates, and has weaker
            endopeptidase activity. It is synthesized as a
            catalytically-inactive enzyme which is activated and
            auto-proteolyzed upon acidification. Mutations in this gene result
            in late-infantile neuronal ceroid lipofuscinosis, which is
            associated with the failure to degrade specific neuropeptides and a
            subunit of ATP synthase in the lysosome. [provided by RefSeq, Jul
            2008].
            
            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 :: SRR1803616.99248.1,
                                           SRR1803617.135364.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000299427.12/ ENSP00000299427.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-10                BP279860.1         29-38
            11-1138             BC014863.1         1-1128
            1139-1139           AC091564.12        13531-13531         c
            1140-2511           BC014863.1         1130-2501
            2512-3342           AC091564.12        10416-11246         c
            3343-3492           AI023962.1         10-159              c
FEATURES             Location/Qualifiers
     source          1..3492
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..3492
                     /gene="TPP1"
                     /gene_synonym="CLN2; GIG1; LPIC; SCAR7; TPP-1"
                     /note="tripeptidyl peptidase 1"
                     /db_xref="GeneID:1200"
                     /db_xref="HGNC:HGNC:2073"
                     /db_xref="MIM:607998"
     exon            1..39
                     /gene="TPP1"
                     /gene_synonym="CLN2; GIG1; LPIC; SCAR7; TPP-1"
                     /inference="alignment:Splign:2.1.0"
     CDS             23..1714
                     /gene="TPP1"
                     /gene_synonym="CLN2; GIG1; LPIC; SCAR7; TPP-1"
                     /EC_number="3.4.14.9"
                     /note="tripeptidyl aminopeptidase; tripeptidyl peptidase
                     I; lysosomal pepstatin insensitive protease;
                     growth-inhibiting protein 1; cell growth-inhibiting gene 1
                     protein; lysosomal pepstatin-insensitive carboxypeptidase"
                     /codon_start=1
                     /product="tripeptidyl-peptidase 1 preproprotein"
                     /protein_id="NP_000382.3"
                     /db_xref="CCDS:CCDS7770.1"
                     /db_xref="GeneID:1200"
                     /db_xref="HGNC:HGNC:2073"
                     /db_xref="MIM:607998"
                     /translation="MGLQACLLGLFALILSGKCSYSPEPDQRRTLPPGWVSLGRADPE
                     EELSLTFALRQQNVERLSELVQAVSDPSSPQYGKYLTLENVADLVRPSPLTLHTVQKW
                     LLAAGAQKCHSVITQDFLTCWLSIRQAELLLPGAEFHHYVGGPTETHVVRSPHPYQLP
                     QALAPHVDFVGGLHRFPPTSSLRQRPEPQVTGTVGLHLGVTPSVIRKRYNLTSQDVGS
                     GTSNNSQACAQFLEQYFHDSDLAQFMRLFGGNFAHQASVARVVGQQGRGRAGIEASLD
                     VQYLMSAGANISTWVYSSPGRHEGQEPFLQWLMLLSNESALPHVHTVSYGDDEDSLSS
                     AYIQRVNTELMKAAARGLTLLFASGDSGAGCWSVSGRHQFRPTFPASSPYVTTVGGTS
                     FQEPFLITNEIVDYISGGGFSNVFPRPSYQEEAVTKFLSSSPHLPPSSYFNASGRAYP
                     DVAALSDGYWVVSNRVPIPWVSGTSASTPVFGGILSLINEHRILSGRPPLGFLNPRLY
                     QQHGAGLFDVTRGCHESCLDEEVEGQGFCSGPGWDPVTGWGTPNFPALLKTLLNP"
     exon            40..111
                     /gene="TPP1"
                     /gene_synonym="CLN2; GIG1; LPIC; SCAR7; TPP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            112..251
                     /gene="TPP1"
                     /gene_synonym="CLN2; GIG1; LPIC; SCAR7; TPP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            252..402
                     /gene="TPP1"
                     /gene_synonym="CLN2; GIG1; LPIC; SCAR7; TPP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            403..530
                     /gene="TPP1"
                     /gene_synonym="CLN2; GIG1; LPIC; SCAR7; TPP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            531..709
                     /gene="TPP1"
                     /gene_synonym="CLN2; GIG1; LPIC; SCAR7; TPP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            710..908
                     /gene="TPP1"
                     /gene_synonym="CLN2; GIG1; LPIC; SCAR7; TPP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            909..1097
                     /gene="TPP1"
                     /gene_synonym="CLN2; GIG1; LPIC; SCAR7; TPP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1098..1167
                     /gene="TPP1"
                     /gene_synonym="CLN2; GIG1; LPIC; SCAR7; TPP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1168..1288
                     /gene="TPP1"
                     /gene_synonym="CLN2; GIG1; LPIC; SCAR7; TPP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1289..1447
                     /gene="TPP1"
                     /gene_synonym="CLN2; GIG1; LPIC; SCAR7; TPP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1448..1573
                     /gene="TPP1"
                     /gene_synonym="CLN2; GIG1; LPIC; SCAR7; TPP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1574..3492
                     /gene="TPP1"
                     /gene_synonym="CLN2; GIG1; LPIC; SCAR7; TPP-1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3469..3474
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TPP1"
                     /gene_synonym="CLN2; GIG1; LPIC; SCAR7; TPP-1"
                     /note="hexamer: ATTAAA"
     polyA_site      3492
                     /gene="TPP1"
                     /gene_synonym="CLN2; GIG1; LPIC; SCAR7; TPP-1"
                     /note="major polyA site"
ORIGIN      
        1 agcagatccg cggaagggca gaatgggact ccaagcctgc ctcctagggc tctttgccct
       61 catcctctct ggcaaatgca gttacagccc ggagcccgac cagcggagga cgctgccccc
      121 aggctgggtg tccctgggcc gtgcggaccc tgaggaagag ctgagtctca cctttgccct
      181 gagacagcag aatgtggaaa gactctcgga gctggtgcag gctgtgtcgg atcccagctc
      241 tcctcaatac ggaaaatacc tgaccctaga gaatgtggct gatctggtga ggccatcccc
      301 actgaccctc cacacggtgc aaaaatggct cttggcagcc ggagcccaga agtgccattc
      361 tgtgatcaca caggactttc tgacttgctg gctgagcatc cgacaagcag agctgctgct
      421 ccctggggct gagtttcatc actatgtggg aggacctacg gaaacccatg ttgtaaggtc
      481 cccacatccc taccagcttc cacaggcctt ggccccccat gtggactttg tggggggact
      541 gcaccgtttt cccccaacat catccctgag gcaacgtcct gagccgcagg tgacagggac
      601 tgtaggcctg catctggggg taaccccctc tgtgatccgt aagcgataca acttgacctc
      661 acaagacgtg ggctctggca ccagcaataa cagccaagcc tgtgcccagt tcctggagca
      721 gtatttccat gactcagacc tggctcagtt catgcgcctc ttcggtggca actttgcaca
      781 tcaggcatca gtagcccgtg tggttggaca acagggccgg ggccgggccg ggattgaggc
      841 cagtctagat gtgcagtacc tgatgagtgc tggtgccaac atctccacct gggtctacag
      901 tagccctggc cggcatgagg gacaggagcc cttcctgcag tggctcatgc tgctcagtaa
      961 tgagtcagcc ctgccacatg tgcatactgt gagctatgga gatgatgagg actccctcag
     1021 cagcgcctac atccagcggg tcaacactga gctcatgaag gctgccgctc ggggtctcac
     1081 cctgctcttc gcctcaggtg acagtggggc cgggtgttgg tctgtctctg gaagacacca
     1141 gttccgccct accttccctg cctccagccc ctatgtcacc acagtgggag gcacatcctt
     1201 ccaggaacct ttcctcatca caaatgaaat tgttgactat atcagtggtg gtggcttcag
     1261 caatgtgttc ccacggcctt cataccagga ggaagctgta acgaagttcc tgagctctag
     1321 cccccacctg ccaccatcca gttacttcaa tgccagtggc cgtgcctacc cagatgtggc
     1381 tgcactttct gatggctact gggtggtcag caacagagtg cccattccat gggtgtccgg
     1441 aacctcggcc tctactccag tgtttggggg gatcctatcc ttgatcaatg agcacaggat
     1501 ccttagtggc cgcccccctc ttggctttct caacccaagg ctctaccagc agcatggggc
     1561 aggactcttt gatgtaaccc gtggctgcca tgagtcctgt ctggatgaag aggtagaggg
     1621 ccagggtttc tgctctggtc ctggctggga tcctgtaaca ggctggggaa cacccaactt
     1681 cccagctttg ctgaagactc tactcaaccc ctgacccttt cctatcagga gagatggctt
     1741 gtcccctgcc ctgaagctgg cagttcagtc ccttattctg ccctgttgga agccctgctg
     1801 aaccctcaac tattgactgc tgcagacagc ttatctccct aaccctgaaa tgctgtgagc
     1861 ttgacttgac tcccaaccct accatgctcc atcatactca ggtctcccta ctcctgcctt
     1921 agattcctca ataagatgct gtaactagca ttttttgaat gcctctccct ccgcatctca
     1981 tctttctctt ttcaatcagg cttttccaaa gggttgtata cagactctgt gcactatttc
     2041 acttgatatt cattccccaa ttcactgcaa ggagacctct actgtcaccg tttactcttt
     2101 cctaccctga catccagaaa caatggcctc cagtgcatac ttctcaatct ttgctttatg
     2161 gcctttccat catagttgcc cactccctct ccttacttag cttccaggtc ttaacttctc
     2221 tgactactct tgtcttcctc tctcatcaat ttctgcttct tcatggaatg ctgaccttca
     2281 ttgctccatt tgtagatttt tgctcttctc agtttactca ttgtcccctg gaacaaatca
     2341 ctgacatcta caaccattac catctcacta aataagactt tctatccaat aatgattgat
     2401 acctcaaatg taagatgcgt gatactcaac atttcatcgt ccaccttccc aaccccaaac
     2461 aattccatct cgtttcttct tggtaaatga tgctatgctt tttccaacca agccagaaac
     2521 ctgtgtcatc ttttcacccc accttcaatc aacaagtcct caatcaacaa gtcctactga
     2581 ctgcacatct taaatatatc tttatcagtc cacaagtcct tccaattata tttcccaagt
     2641 atatctagaa cttatccact tatatcccca ctgctactac cttagtttag ggctatattc
     2701 tcttgaaaaa aagtgtcctt acttcctgcc aatccccaag tcatcttcca gagtaaaatg
     2761 caaatcccat caggccactt ggatgaaaac ccttcaagga ttactggata gaattcaggc
     2821 tttcccctcc agcccccaat catagctcac aaaccttcct tgctatttgt tcttaagtaa
     2881 aaaatcattt ttcctcctcc ctccccaaac cccaaggaac tctcactctt gctcaagctg
     2941 ttccgtcccc ttaccacccc tgatacaact gccaggttaa tttccagaat tcttgcaaga
     3001 ctcagttcag aagtcacctt ctttcgtgaa tgttttgatt ccctgaggct actttatttt
     3061 ggtatggctg aaaaatccta gattttctaa acaaaacctg tttgaatctt ggttctgata
     3121 tggactagga gagagactgg gtcaagtaag cttatctccc tgaggctgtt tcctcgtctg
     3181 ttaagtgtga atatcaatac ctgcctttca taatcaccag ggaataaagt ggaataatgt
     3241 tgataacagt gcttggcacc tggaagtagg tggcagatgt taacgccctt cctcccttgc
     3301 actgcgcccc ctgtgcctac ctctagcatt gtaacgacca cgtagtattg aaatggccag
     3361 tttacttgtc tgccttcctt tccaagaccg ttggtgccta gaggactaga atcgtgtcct
     3421 atttaacttt gtgttcccag gtcctagctc aggagttggc aaataagaat taaatgtctg
     3481 ctacaccgaa aa
//
