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    TPP1 tripeptidyl peptidase 1 [ Homo sapiens (human) ]

    Gene ID: 1200, updated on 4-Jan-2025

    Summary

    Official Symbol
    TPP1provided by HGNC
    Official Full Name
    tripeptidyl peptidase 1provided by HGNC
    Primary source
    HGNC:HGNC:2073
    See related
    Ensembl:ENSG00000166340 MIM:607998; AllianceGenome:HGNC:2073
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CLN2; GIG1; LPIC; SCAR7; TPP-1
    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]
    Annotation information
    Note: TPP1 (Gene ID: 1200) and ACD (Gene ID: 65057) share the TPP1 symbol/alias in common. TPP1 is a widely used alternative name for ACD, shelterin complex subunit and telomerase recruitment factor (ACD), which can be confused with the official symbol for TPP1 (tripeptidyl peptidase 1, GeneID 1200). [01 Jun 2018]
    Expression
    Ubiquitous expression in spleen (RPKM 90.7), appendix (RPKM 64.1) and 25 other tissues See more
    Orthologs
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    Genomic context

    See TPP1 in Genome Data Viewer
    Location:
    11p15.4
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (6612768..6619422, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (6671236..6677889, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (6633999..6640653, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 2811 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:6624079-6624620 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4344 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3104 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4345 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4346 Neighboring gene ribosomal RNA processing 8 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4347 Neighboring gene Sharpr-MPRA regulatory region 730 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:6632062-6632650 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:6632651-6633238 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3106 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4348 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4349 Neighboring gene TATA-box binding protein associated factor 10 Neighboring gene integrin linked kinase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3107 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4350 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4351 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4352 Neighboring gene dachsous cadherin-related 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:6662561-6663130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:6668387-6668887 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4353 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4354 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:6704113-6704875 Neighboring gene mitochondrial ribosomal protein L17

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • MGC21297

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables endopeptidase activity  
    enables endopeptidase activity PubMed 
    enables endopeptidase activity PubMed 
    enables lysophosphatidic acid binding PubMed 
    enables metal ion binding  
    enables peptidase activity PubMed 
    enables peptide binding  
    enables protein binding PubMed 
    enables serine-type endopeptidase activity  
    enables serine-type peptidase activity PubMed 
    enables sulfatide binding PubMed 
    enables tripeptidyl-peptidase activity  
    enables tripeptidyl-peptidase activity PubMed 
    enables tripeptidyl-peptidase activity PubMed 
    Process Evidence Code Pubs
    involved_in bone resorption PubMed 
    involved_in central nervous system development  
    involved_in epithelial cell differentiation PubMed 
    involved_in lipid metabolic process PubMed 
    involved_in lysosomal protein catabolic process  
    involved_in lysosome organization  
    involved_in nervous system development PubMed 
    involved_in neuromuscular process controlling balance  
    involved_in peptide catabolic process PubMed 
    involved_in protein catabolic process PubMed 
    involved_in protein localization to chromosome, telomeric region PubMed 
    involved_in proteolysis  
    involved_in proteolysis PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus PubMed 
    located_in extracellular exosome PubMed 
    located_in lysosomal lumen  
    located_in lysosome PubMed 
    located_in lysosome PubMed 
    located_in melanosome  
    located_in membrane raft PubMed 
    located_in recycling endosome PubMed 

    General protein information

    Preferred Names
    tripeptidyl-peptidase 1
    Names
    cell growth-inhibiting gene 1 protein
    growth-inhibiting protein 1
    lysosomal pepstatin insensitive protease
    lysosomal pepstatin-insensitive carboxypeptidase
    tripeptidyl aminopeptidase
    tripeptidyl peptidase I
    NP_000382.3

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008653.1 RefSeqGene

      Range
      5040..11694
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_830

    mRNA and Protein(s)

    1. NM_000391.4 → NP_000382.3  tripeptidyl-peptidase 1 preproprotein

      See identical proteins and their annotated locations for NP_000382.3

      Status: REVIEWED

      Source sequence(s)
      AC091564, AI023962, BC014863, BP279860
      Consensus CDS
      CCDS7770.1
      UniProtKB/Swiss-Prot
      O14773, Q53HT1, Q5JAK6, Q6UX56, Q71JP6, Q96C37
      UniProtKB/TrEMBL
      B2R608
      Related
      ENSP00000299427.6, ENST00000299427.12
      Conserved Domains (2) summary
      cd04056
      Location:199 → 557
      Peptidases_S53; Peptidase domain in the S53 family
      cd11377
      Location:34 → 173
      Pro-peptidase_S53; Activation domain of S53 peptidases

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      6612768..6619422 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      6671236..6677889 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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