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    TPP1 tripeptidyl peptidase 1 [ Homo sapiens (human) ]

    Gene ID: 1200, updated on 22-Apr-2017
    Official Symbol
    TPP1provided by HGNC
    Official Full Name
    tripeptidyl peptidase 1provided by HGNC
    Primary source
    HGNC:HGNC:2073
    See related
    Ensembl:ENSG00000166340 MIM:607998; Vega:OTTHUMG00000133404
    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]
    Orthologs
    Location:
    11p15.4
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (6612766..6619461, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (6633997..6640692, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984305 Neighboring gene integrin linked kinase Neighboring gene TATA-box binding protein associated factor 10 Neighboring gene dachsous cadherin-related 1 Neighboring gene mitochondrial ribosomal protein L17

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • IRE1alpha activates chaperones, organism-specific biosystem (from REACTOME)
      IRE1alpha activates chaperones, organism-specific biosystemIRE1-alpha is a single-pass transmembrane protein that resides in the endoplasmic reticulum (ER) membrane. The C-terminus of IRE1-alpha is located in the cytosol; the N-terminus is located in the ER ...
    • Lysosome, organism-specific biosystem (from KEGG)
      Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • Lysosome, conserved biosystem (from KEGG)
      Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Unfolded Protein Response (UPR), organism-specific biosystem (from REACTOME)
      Unfolded Protein Response (UPR), organism-specific biosystemThe Unfolded Protein Response (UPR) is a regulatory system that protects the Endoplasmic Reticulum (ER) from overload. The UPR is provoked by the accumulation of improperly folded protein in the ER d...
    • XBP1(S) activates chaperone genes, organism-specific biosystem (from REACTOME)
      XBP1(S) activates chaperone genes, organism-specific biosystemXbp-1 (S) binds the sequence CCACG in ER Stress Responsive Elements (ERSE, consensus sequence CCAAT (N)9 CCACG) located upstream from many genes. The ubiquitous transcription factor NF-Y, a heterotri...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC21297

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    peptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    peptide binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    serine-type endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    serine-type peptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    tripeptidyl-peptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    tripeptidyl-peptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    IRE1-mediated unfolded protein response TAS
    Traceable Author Statement
    more info
     
    bone resorption IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    central nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    epithelial cell differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    lipid metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    lysosome organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nervous system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neuromuscular process controlling balance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    peptide catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein catabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    proteolysis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lysosomal lumen TAS
    Traceable Author Statement
    more info
     
    lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lysosome IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    melanosome IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    tripeptidyl-peptidase 1
    Names
    cell growth-inhibiting gene 1 protein
    growth-inhibiting protein 1
    lysosomal pepstatin insensitive protease
    tripeptidyl aminopeptidase
    tripeptidyl peptidase I
    NP_000382.3

    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
      5001..11696
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000391.3NP_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, BP287220
      Consensus CDS
      CCDS7770.1
      UniProtKB/Swiss-Prot
      O14773
      Related
      ENSP00000299427.6, OTTHUMP00000164588, ENST00000299427.10, OTTHUMT00000257261
      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: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      6612766..6619461 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      6632898..6639593 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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