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    TPP1 tripeptidyl peptidase 1 [ Homo sapiens (human) ]

    Gene ID: 1200, updated on 31-Mar-2024

    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
    NEW
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (6612768..6619422, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (6671236..6677889, complement)
    105.20220307 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: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC21297

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables endopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables lysophosphatidic acid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables peptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables peptide binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables serine-type endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables serine-type peptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables sulfatide binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables tripeptidyl-peptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables tripeptidyl-peptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables tripeptidyl-peptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in bone resorption IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in central nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in epithelial cell differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in lipid metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in lysosomal protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lysosome organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in nervous system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neuromuscular process controlling balance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in peptide catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein catabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in protein localization to chromosome, telomeric region IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in proteolysis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in lysosomal lumen TAS
    Traceable Author Statement
    more info
     
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lysosome IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in melanosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane raft IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in recycling endosome IDA
    Inferred from Direct Assay
    more info
    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)

    NEW Try the new Transcript table

    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_000391.4NP_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:199557
      Peptidases_S53; Peptidase domain in the S53 family
      cd11377
      Location:34173
      Pro-peptidase_S53; Activation domain of S53 peptidases

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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)