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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?

Phenotypes

Associated conditions

Description Tests
Autosomal recessive spinocerebellar ataxia 7
MedGen: C1836474 OMIM: 609270 GeneReviews: Not available
Compare labs
Neuronal ceroid lipofuscinosis 2
MedGen: C1876161 OMIM: 204500 GeneReviews: Not available
Compare labs

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_000391.4NP_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_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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