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TPP1 tripeptidyl peptidase 1 [ Homo sapiens (human) ]

Gene ID: 1200, updated on 12-Oct-2019

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
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

Genomic context

See TPP1 in Genome Data Viewer
Location:
11p15.4
Exon count:
13
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (6612768..6619422, 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 dynein heavy chain domain 1 Neighboring gene ribosomal RNA processing 8 Neighboring gene Sharpr-MPRA regulatory region 730 Neighboring gene TATA-box binding protein associated factor 10 Neighboring gene integrin linked kinase Neighboring gene dachsous cadherin-related 1 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 BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC21297

Gene Ontology Provided by GOA

Function Evidence Code Pubs
endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
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
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proteolysis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
extracellular exosome HDA 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
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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)

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
    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: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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